DOSEN PROFIL LENGKAP

An intron is any nucleotide sequence within a gene that is not expressed or operative in the final RNA product. The word intron is derived from the term...

Epstein–Barr virus stable intronic-sequence RNAs (ebv-sisRNAs) are a class of non-coding RNAs generated by repeat introns in the Epstein–Barr virus. After...

RNF216 intronic transcript 1 is a protein encoded by the RNF216-IT1 gene in humans. GRCh38: Ensembl release 89: ENSG00000237738 – Ensembl, May 2017 "Human...

Epstein–Barr virus reveal conserved RNA structures and a novel stable intronic sequence RNA". BMC Genomics. 14: 543. doi:10.1186/1471-2164-14-543. PMC 3751371...

opposite the coding sequence of a larger gene A nested intronic gene lies within the non-coding intronic region of a larger gene, and occurs relatively frequently...

(acceptor site). However, it is noted that the specific sequence of intronic splicing elements and the number of nucleotides between the branchpoint...

alternative splicing outcomes as dictated by the exonic sequences and intronic sequences (yellow and green bands) that influence splicing. These sequences...

Mutations in these sequences may lead to retention of large segments of intronic DNA by the mRNA, or to entire exons being spliced out of the mRNA. These...

 influence the formation of circRNAs. It is important that the flanking intronic Alu elements are complementary, as this enables RNA pairing, which in turn...

of tandem duplication in exons in human, fly, and worm. Analysis of the intronic region has produced further 4,660 unidentified duplicated exons referred...

whole new class of ncRNA. Their DNA sequences reside in the intergenic or intronic regions of the genome, which is often called junk DNA. Broadly speaking...

tumor suppressor genes. The observed methylation pattern of CpG within intronic regions with enhancer-related chromatin marks in multiple myeloma is similar...

a splicing factor that serves as a splicing activator when bound to an intronic enhancer element may serve as a repressor when bound to its splicing element...

Wayback Machine at Online Mendelian Inheritance in Animals. An L1 element intronic insertion in the black-eyed white (Mitf[mi-bw]) gene: the loss of a single...

"Canine Polydactyl Mutations With Heterogeneous Origin in the Conserved Intronic Sequence of LMBR1". Genetics. 179 (4): 2163–2172. doi:10.1534/genetics...

been reported, including missense, nonsense, frame-shift, splice-site and intronic variants. In 2012, more than 180 mutations of this transporter protein...

explaining the pale color of their flesh. In laboratory house mice, an intronic single nucleotide polymorphism in the Myosin heavy polypeptide 4 gene causes...

in genome size correlates with the vast expansion of noncoding (i.e., intronic, intergenic, and interspersed repeat sequences) and repeat DNA (e.g., satellite...

Molecular function N6-methyladenosine-containing RNA binding pre-mRNA intronic binding miRNA binding single-stranded telomeric DNA binding mRNA 3'-UTR...

"Alu and B1 Repeats Have Been Selectively Retained in the Upstream and Intronic Regions of Genes of Specific Functional Classes". PLOS Computational Biology...

substitutions of single amino acids but can also handle synonymous or intronic variants. Many genetic disorders can be caused by mutation of a single...

PMC 10834484. Downs, Louise M.; Mellersh, Cathryn S. (2014-04-04). "An Intronic SINE Insertion in FAM161A that Causes Exon-Skipping Is Associated with...

intron (normally expressing COLDAIR) is similarly silenced, however, the intronic sequence itself serves as a physical 3’ anchor point for the repressive...

mainly attributed to other non-coding variants, such as non-coding deep-intronic point mutations or structural variants, both results in the transcription...

Retrieved 2017-02-10. Murgiano, Leonardo; Waluk, Dominik (2016). "An Intronic MBTPS2 Variant Results in a Splicing Defect in Horses with Brindle Coat...

expression data Gene ontology Molecular function protein binding pre-mRNA intronic binding nucleic acid binding RNA binding mRNA 3'-UTR binding mRNA CDS binding...

PE inclusion in SRSF10 is linked to acute lymphoblastic leukemia (ALL). Intronic mutations can lead to PE inclusion, such as in the case of SCN1A, where...

Fucheng; Li, Zhuxi; Zhan, Di; Luo, Xiaoping (2024-12-18). "A novel homozygous intronic variant in CDT1 that alters splicing causes Meier–Gorlin syndrome, and...

whole-genome sequencing as disease may be caused by mutations in deep intronic (non-coding) regions of the genome. Medically supervised sodium, chloride...

patterns the extending anterior-posterior axis of the embryo. The ASE is an intronic enhancer bound by the fork head domain transcription factor Fox1. Early...

constitute only a tiny fraction of the overall amount of intergenic or intronic DNA. In humans, intergenic regions comprise about 50% of the genome, whereas...

PMID 15634332. S2CID 32923462. Kim YK, Kim VN (February 2007). "Processing of intronic microRNAs". The EMBO Journal. 26 (3): 775–83. doi:10.1038/sj.emboj.7601512...

"[clarification needed] Another study investigated the frequency of RFC1 intronic repeat expansions, a phenomenon implicated in CANVAS; a disease with a...

Bendlová B, Graessler J, Schwarz PE, Schulze J (2002). "Mutations and intronic variants in the HNF-1 beta gene in a group of German and Czech Caucasians...

In molecular biology, MEST intronic transcript 1, antisense RNA (non-protein coding), also known as MESTIT1 or PEG1-AS is a long non-coding RNA. It is...

complex; NR, not reported; Tsn, Tudor-staphylococcal nuclease; Vig, vasa intronic gene. Regardless, it is apparent that Argonaute proteins are present and...

Asthana S, Bowen RL, Atwood CS (2008). "A luteinizing hormone receptor intronic variant is significantly associated with decreased risk of Alzheimer's...

strategy makes a permanent change to the SMN2 gene itself by disrupting intronic splicing silencers like ISS-N1 and ISS+100. A single intravenous treatment...

"Canine Polydactyl Mutations With Heterogeneous Origin in the Conserved Intronic Sequence of LMBR1". Genetics. 179 (4): 2163–72. doi:10.1534/genetics.108...

MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its...

RCP9 REPIN1: replication initiator 1 RNF216-IT1: encoding protein RNF216 intronic transcript 1 SCIN: scinderin SCRN1: secernin 1 SEMA3E: encoding protein...

SNORD79, SNORD78, SNORD44, SNORD77, SNORD76, SNORD75 and SNORD74. These intronic sequences are more conserved than the exons of the host gene, these sorts...

intronic enhancer of Fra-1 there were two conserved MyoD binding sites discovered. There is cooperative action of MyoD and pRb at the Fra-1 intronic enhancer...

software has to account for short reads that overlap exon-exon junctions (in red) and thereby skip intronic sections of the pre-mRNA and reference genome....

increases the expression of FAAH, both via its lncRNA product and through an intronic enhancer called FAAH-AMP. Loss of FAAH-OUT also changes the expression...

Masakazu; Yoshino, Shinichi; Mabuchi, Akihiko; Sekine, Akihiro (2003). "An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter...

PMC 1356129. PMID 16344560. Fradin D, Bougneres P (2007). "Three common intronic variants in the maternal and fetal thiamine pyrophosphokinase gene (TPK1)...

from which TUFs are transcribed are generally located in intergenic or intronic regions of the genome. See also junk RNA. transcriptase See RNA polymerase...

methods in data analysis. Ruby, JG; Jan, CH; Bartel, DP (Jul 5, 2007). "Intronic microRNA precursors that bypass Drosha processing". Nature. 448 (7149):...

Pardo-Manuel de Villena, Fernando; Pomp, Daniel (2013-12-01). "A novel intronic single nucleotide polymorphism in the myosin heavy polypeptide 4 gene is...

with lactic acidosis (HML), the most common pathogenic mutation is the intronic IVS5+382 G>C (rs767000507). There are two groups of DNA that affect the...

to mediate viral latency. Endogenously expressed miRNAs, including both intronic and intergenic miRNAs, are most important in translational repression and...

Loebel DA, Tsoi B, Wong N, Tam PP (June 2005). "A conserved noncoding intronic transcript at the mouse Dnm3 locus". Genomics. 85 (6): 782–9. doi:10.1016/j...

occurred in 60% of untranslated mature portions of mRNAs, and in 20% of intronic and intergenic regions. If this is true, this would imply that much non-coding...

members of this family called mir-33a and mir-33b, which are located in intronic regions within two protein-coding genes for Sterol regulatory element-binding...

about 4% of cases, the disease is caused by a (missense, nonsense, or intronic) point mutation, with an expansion in one allele and a point mutation in...

are two copies of an 18 S rRNA intronic region that is highly expressed during viral replication. Although these intronic regions also exist in other mimiviruses...

PMID 7823908. S2CID 10545108. Scamborova P, Wong A, Steitz JA (March 2004). "An intronic enhancer regulates splicing of the twintron of Drosophila melanogaster...

change in gene expression, yet causes hair lightening. An example of an intronic VUS controlling gene expression is the SNP found in an intron of the FTO...

1997). "A new regulatory protein, KSRP, mediates exon inclusion through an intronic splicing enhancer". Genes Dev. 11 (8): 1023–36. doi:10.1101/gad.11.8.1023...

receptor gamma2 alternative splicing via a distal downstream UCAU-rich intronic splicing enhancer". Mol. Cell. Biol. 23 (13): 4687–700. doi:10.1128/MCB...

happen in one of two ways. The first mutation discovered was a homozygous intronic point mutation of an A to a C at the 169 position that resulted in 19 bases...

intracranial volume is also associated with this pathway, in particular with AKT3 intronic variants. Thyroid hormone was originally identified as the primary regulator...

downstream targets of TAL1 fusion genes which works by binding to the intronic regulatory element of ALDH1a2, thereby inducing a T-ALL specific isoform...

ISBN 978-1-119-13058-1. Murgiano, Leonardo; Waluk, Dominik (2016). "An Intronic MBTPS2 Variant Results in a Splicing Defect in Horses with Brindle Coat...

experimental autoimmune encephalo-myelitis (EAE) than the wild type mice. Intronic single nucleotide polymorphism (SNP) mostly in third intron of the STAT4...

[citation needed] Apparently, due to some unknown selection pressure, intronic and extragenic sequences have been drastically reduced within the pufferfish...

and interferon pathways, and in neurodegenerative disease genetics, with intronic variants such as rs12637471 associated with altered gene expression and...

represented the second highest number of known mutations. Furthermore, a 25-bp intronic MYBPC3 deletion leading to protein truncation is present in 4% of the population...

personality traits, for example neuroticism was reported to be associated with intronic variant in MAGI1 and openness with variants near RASA1. Recently, UK Biobank...

may also occur due to mutations within a splicing regulatory element. Intronic mutations that fall outside of splice sites also fall under splicing mutations...

Noncoding DNA in Drosophila Reveals Similar Constraints in Intergenic and Intronic Sequences". Genome Research. 11 (8): 1335–1345. doi:10.1101/gr.178701....

2043–50. doi:10.1093/hmg/6.12.2043. PMID 9328467. Kan JL, Moran RG (1997). "Intronic polyadenylation in the human glycinamide ribonucleotide formyltransferase...

the neonates covered all genomic compartments (promoters, intergenic, intronic and exonic regions). However, some genes become hypermethylated with age...

consists of 15 protein-coding genes, 2 rRNAs, 25 tRNAs, one intron and one intronic ORF. Approximately 84% of the mitochondrial genome are the structural genes...

intracellular cobalamin metabolism disorders. (MTRR):c.903+469T>C – Deep intronic insertion between exons 6 and 7 (r.903_904ins140). Threonine to cysteine...

Stern, David L. (2016). "Natural courtship song variation caused by an intronic retroelement in an ion channel gene". Nature. 536 (7616): 329–332. Bibcode:2016Natur...

first drug approved to treat SMA, an anti-sense oligonucleotide targeting intronic splicing silencer N1 (ISS-N1), also alters mRNA splicing of SMN2. Risdiplam...

"Correction of aberrant FGFR1 alternative RNA splicing through targeting of intronic regulatory elements". Human Molecular Genetics. 13 (20): 2409–20. doi:10...

polymerase II transcription regulatory region sequence-specific DNA binding intronic transcription regulatory region sequence-specific DNA binding DNA-binding...

The Dunaliella salina organelle genomes: large sequences, inflated with intronic and intergenic DNA." BMA Plant Biology, 2010. DOI: 10.1186/1471-2229-10-83...

R, Takahashi M, Romeo G (November 1993). "Exon structure and flanking intronic sequences of the human RET proto-oncogene". Biochemical and Biophysical...

recognition motif (RRM) domains that bind RNAs. This protein binds to the intronic polypyrimidine tracts that requires pre-mRNA splicing and acts via the...

post-transcriptional modifications are: the addition of a 5' m7G cap, splicing of intronic sequences, and 3' cleavage and polyadenylation. According to Schönemann...

Carrère J, Fonalleras E, Gómez A, Villanueva A, Esteller M (June 2012). "Intronic RNAs mediate EZH2 regulation of epigenetic targets". Nature Structural...

broadly consistent rise in the amount of non-protein-coding intergenic and intronic DNA with developmental complexity, a relationship that proves nothing but...

of polymorphisms, splice variants, and proximal coding mutations using intronic sequences of the Alzheimer's S182 gene, (2000). Transgenic mouse expressing...

caused by a mutation in the nuclear genome (specifically, expansion of an intronic GAA triplet repeat in the FXN gene, which encodes the protein frataxin...

purposes. Other microsatellites are located in regulatory flanking or intronic regions of genes, or directly in codons of genes – microsatellite mutations...

allele is an ultra-rare intronic mutation. It can also be caused by recessive homozygous intronic mutations. These intronic mutations result in a milder...

example of overt but non-pathological phenotype change by one SNP. An intronic SNP in DNA mismatch repair gene PMS2 (rs1059060, Ser775Asn) is associated...

morphology of the left visceral organs. Expression of Pitx2 is controlled by an intronic enhancer ASE and Nodal. It appears that while Nodal controls cranial expression...

Synergistic Action of Sox9-Regulated Wwp1 and Wwp2 E3 Ubiquitin Ligases and Intronic miR-140". Neuron. 100 (5): 1097–1115.e15. doi:10.1016/j.neuron.2018.10...

transmitted to their female offspring. All XLPDR probands shared the same unique intronic variant mapping to intron 13 of POLA1, (NM_016937.3:c.1375-354A>G). XLPDR...

Xing Y, Davidson BL (March 2010). "Structure and activity of putative intronic miRNA promoters". RNA. 16 (3): 495–505. doi:10.1261/rna.1731910. PMC 2822915...

et al. (2007). "HMGA2 regulates transcription of the Imp2 gene via an intronic regulatory element in cooperation with nuclear factor-kappaB". Mol. Cancer...

species, with considerable differences in the amount and type of non-coding (intronic) sequences. All five species investigated (U. halei, U. mutabilis, U. subfusca...

Polke, James; Ilyas, Muhammad (2019-03-29). "Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia". Nature Genetics...

remaining 95% represented distal DHSs, divided in a uniform way between intronic and intergenic regions. The data gives an idea of the great complexity...

directing site-specific 2'-O-methylation of substrate RNAs. U50 is an intronic snoRNA gene located on chromosome 6q15, at the breakpoint of chromosomal...

small nucleolar RNA at Rfam Page for EBER1 at Rfam Page for v-snoRNA1 at Rfam Page for IRES_EBNA at Rfam Epstein–Barr virus stable intronic sequence RNAs...

shuffling. intronic gene A gene whose DNA sequence is nested within an intron of another gene and hence surrounded by non-coding intronic sequences. invagination...

been shown to interact with: BRD4, HDAC1, PCNA, RELA and RFC3. Biallelic intronic repeat expansions (a series of repeating nucleotide sequences) in the replication...

Doxiadis GG, de Groot N, Bontrop RE (July 2008). "Impact of endogenous intronic retroviruses on major histocompatibility complex class II diversity and...

CYLD to blood leukocytes but little or none to hair follicles; 2) deep intronic mutations (i.e. mutations that occur deep within a CYLD gene's introns)...

Margolis JM, Schoser BG, Moseley ML, Day JW, Ranum LP (Jun 2006). "DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or...

Hernández-Hernández O, et al. (September 2017). "A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7-CAG Expansion...

13060. PMID 31703157. S2CID 207956113. Page for CDKN2B antisense RNA 1 intronic conserved region at Rfam Human CDKN2B-AS genome location and CDKN2B-AS...

weaknesses of not providing explicit genomic coordinates of gene flanking and intronic regions as well as showing awkwardly large coordinates that change with...

study done in 2015 found evidence for an association between three SNPS in intronic regions of the gene and AIS. They were as follows: rs6570507 (A>G), with...

Paradas, Carmen; Wallace, Mary; Schiffmann, Raphael (2015-04-01). "Deep IntronicGBE1Mutation in Manifesting Heterozygous Patients With Adult Polyglucosan...

Tasheva ES, Roufa DJ (1995). "Regulation of human RPS14 transcription by intronic antisense RNAs and ribosomal protein S14". Genes Dev. 9 (3): 304–16. doi:10...

Zielenski J, Tsui LC, et al. (August 2008). "A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich...

exon skipping. The single stranded pre-mRNA molecules need to have their intronic and exonic regions spliced in order to be translated. ESSs silence splice...

Manzi S, Bontempo F, Nestlerode C, Kamboh MI (October 2004). "Role of an intronic polymorphism in the PDCD1 gene with the risk of sporadic systemic lupus...

caused by DNMT3a2 predominantly occur in intergenic and intronic regions. These intergenic and intronic DNA methylations were thought to likely regulate enhancer...

decrease in co-clustering of AChR with rapsyn. A third mutation is the intronic base alteration IVS1-15C>A, which causes abnormal splicing of RAPSN RNA...

retained and then succeeded by a 12 amino acid stretch from an adjacent intronic region. The integrin beta-1B isoform appears to act as a dominant negative...

editing complementary sequence (ECS) is found in an intronic sequence close to the exon. The intronic sequence includes a 5' splice site. The predicted...

corresponding mRNA is 2786 base pairs in length (the remaining DNA sequence is intronic). The structure of the DHCR7 rat gene is very similar to the structure...

A. M.; Kiechle, Marion (2010-08-29). "Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase...

computational screening of vertebrate genomes for conserved C/D box motifs within intronic regions and expression experimentally verified by northern blotting. The...

1159689. PMC 5898235. PMID 18703739. Lin SL, Miller JD, Ying SY (2006). "Intronic microRNA (miRNA)". Journal of Biomedicine and Biotechnology. 2006 (4) 026818:...

epithelial cells. It was first described in 2007 during a search for non-intronic sequence proximal to PSMB5 locus in mouse genome. The PSMB5 locus encodes...

A, Bitko V, Barik S (March 2008). "Ectopic expression of miR-126*, an intronic product of the vascular endothelial EGF-like 7 gene, regulates prostein...

factor (REST) regulates human synaptophysin gene transcription through an intronic sequence-specific DNA-binding site". European Journal of Biochemistry....

that include: four missense mutations, two exonic polymorphisms and two intronic polymorphisms. Histidenemia is characterized by increased levels of histidine...

Iijima K, Nozu Y, Ikegami E, Imai T, Fu XJ, et al. (November 2009). "A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome". Pediatric Research...

apo-E-enriched LDL cholesterol and Ab protein. Insertion/deletion is an intronic polymorphism of LRPAP gene, Influencing DD genotype and D allele for the...

(1996). "Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion". Science. 271 (5254): 1423–7. Bibcode:1996Sci...

PMC 3353893. PMID 22615936. Ruby JG, Jan CH, Bartel DP (July 2007). "Intronic microRNA precursors that bypass Drosha processing". Nature. 448 (7149):...

effects on the expression of the downstream gene OCA2. In particular, two intronic SNPs, rs916977 and rs12913832, have been reported as good predictors of...

transcript variants seem to be present for this gene and some appear to have intronic regions in the mRNA. Presently, only two transcript variants are fully...

Xing Y, Davidson BL (March 2010). "Structure and activity of putative intronic miRNA promoters". RNA. 16 (3): 495–505. doi:10.1261/rna.1731910. PMC 2822915...

Lv J, Spradling AC, Bellen HJ (2015). "A genetic toolkit for tagging intronic MiMIC containing genes". eLife. 4 e08469. doi:10.7554/elife.08469. PMC 4499919...

associates with RISC which effects RNA interference. miR-338 is located in an intronic region within the gene for apoptosis-associated tyrosine kinase (AATK)...

Singh RN (2009). "A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy"...

Burrows NP, Nicholls AC, Richards AJ, et al. (1998). "A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos...

acyltransferase activity transferase activity beta-catenin binding pre-mRNA intronic binding zinc ion binding chromatin binding damaged DNA binding protein...

3). The mature mRNA sequence is 2498 base-pairs long with 5 exons and 4 intronic regions that translates a protein that is 229 amino acids long and two...

amino acids for the α isoform and 931 amino acids for the β isoform. An intronic sequence of the synemin β isoform is used as a coding sequence for synemin...

reference skip. This occurs, for example, if a base in the reference genome is intronic and a read maps to two flanking exons. If quality scores are given in a...

encoded by the PTBP2 gene. The protein encoded by this gene binds to the intronic cluster of RNA regulatory elements, downstream control sequence (DCS)....

enhancers (ESEs), exonic splicing silencers (ESSs), intronic splicing enhancers (ISEs) and intronic splicing silencers (ISSs) and depending on their location...

capacity to function as an activator and a repressor. Notably, RBM4 binds to intronic CU-rich elements in a skeletal muscle-specific isoform of α-tropomyosin...

gene (RPL3): sequence analysis and identification of U43 and of two novel intronic small nucleolar RNAs". Biochim Biophys Acta. 1490 (3): 225–36. doi:10...

"Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon". European Journal...

Synergistic Action of Sox9-Regulated Wwp1 and Wwp2 E3 Ubiquitin Ligases and Intronic miR-140". Neuron. 100 (5): 1097–1115.e15. doi:10.1016/j.neuron.2018.10...

to Transcriptome Diversity in Human Population and Are Associated with Intronic Genetic Variants". PLOS ONE. 9 (8) e104567. Bibcode:2014PLoSO...9j4567G...

elevated in the lytic stage. In Epstein-Barr virus, mir-BART1 is found in the intronic regions of the BART (Bam HI-A region rightward transcript) gene whose function...

2130310. PMC 2941103. PMID 20705646. De la Peña M, García-Robles I (2010). "Intronic hammerhead ribozymes are ultraconserved in the human genome". EMBO Rep...

GWAS study in Han Chinese women positively identified two variants in intronic regions near SIRT1 and LHPP with a genome-wide significant association...

lymphocyte trafficking are deficient. The NEDD9 rs760678 SNP located in an intronic region, has been studied for a possible association with late onset Alzheimer's...

patient, it may help to do a gene sequencing of the three exons and their intronic regions for a genetic analysis. CISD2-Wolfram syndrome is the rarest and...

descent, a particular single nucleotide polymorphism (SNP) (rs2490272) in an intronic region of FOXO3 and neighboring SNPs in the promoter region, had the strongest...

self-splicing introns of the RNA world were unsuitable for exon-shuffling by intronic recombination. These introns had an essential function and therefore could...

depends on the expression of an antisense transcript that complements the intronic 5' splice site. Therefore, the ectopic expression of the antisense transcript...

Weedon MN, Ellard S (Jan 2013). "Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism...

Dan; Ast, Gil (23 April 2004). "Minimal conditions for exonization of intronic sequences: 5' splice site formation in alu exons". Molecular Cell. 14 (2):...

editing in kainate receptor GluR5 and GluR6 pre-mRNAs requires distant intronic sequences". Proceedings of the National Academy of Sciences of the United...

PMC 1544249. PMID 16864782. "A protein complex regulates RNA processing of intronic heterochromatin-containing genes in Arabidopsis". Huang, Huan; Liu, Ruie;...

retrotransposal insertion in the 3'-untranslated region. The second is a deep-intronic point mutation c.647+2084G>T. This second mutation has only been found...

are mostly conserved between the two species, while most intergenic and intronic sequences are divergent. Areas of similarity between the sequences of the...

virus common to all four EBNA1 transcripts. Epstein–Barr virus stable intronic-sequence RNAs Isaksson A, Berggren M, Ricksten A (January 2003). "Epstein-Barr...

filtering out all known benign polymorphisms, synonymous changes, and intronic changes (that do not affect splice sites), only potentially pathogenic...

exonic splicing silencers (ESSs) present in introns: intronic splicing enhancers (ISEs), intronic splicing silencers (ISSs). Wang, Zefeng; Christopher...

editing complementary sequence (ECS) is found in an intronic sequence close to the exon. The intronic sequence includes a 5' splice site, and the predicted...

Zhang X, Merkler KA, McLean MP (Jul 2008). "Characterization of regulatory intronic and exonic sequences involved in alternative splicing of scavenger receptor...

protein binding nuclear receptor coactivator activity RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding signaling...

than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences". Am. J. Hum. Genet. 58 (6): 1373–7. PMC 1915070. PMID 8651316...

activity, RNA polymerase II-specific protein binding RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding sequence-specific...

mapping of the human tryptophan hydroxylase gene on chromosome 11, using an intronic conformational polymorphism". Am. J. Hum. Genet. 51 (6): 1366–71. PMC 1682899...

3'-end (the 3'-UTR) of viral DNA polymerase mRNA. Epstein–Barr virus stable intronic sequence RNAs Hutzinger R, Feederle R, Mrazek J, Schiefermeier N, Balwierz...

Garraway LA, Song JS, Granter SR, Turley SJ, Fisher DE, Novina CD (2010). "Intronic miR-211 assumes the tumor suppressive function of its host gene in melanoma"...

breakpoint in chromosome 4 in the C4orf45 gene in a patient with MM. An intronic variant found in C4orf45 suggests that the gene may contain variants associated...

Liang D, Zhou H, Zhang P, et al. (2002). "A novel gene organization: intronic snoRNA gene clusters from Oryza sativa". Nucleic Acids Res. 30 (14): 3262–72...

PMID 17121874. S2CID 7569257. Kim YK, Kim VN (February 2007). "Processing of intronic microRNAs". The EMBO Journal. 26 (3): 775–783. doi:10.1038/sj.emboj.7601512...

snRNA binding U1 snRNA binding U2 snRNA binding U5 snRNA binding pre-mRNA intronic binding Cellular component nuclear speck catalytic step 2 spliceosome membrane...

followed additional columns "genomic_function" (e.g. with values "exonic" or "intronic") and "coding_variant_function" (e.g. with values "synonymous SNV" or "non-synonymous...

PMID 9336428. Krynetski EY, Fessing MY, Yates CR, et al. (1998). "Promoter and intronic sequences of the human thiopurine S-methyltransferase (TPMT) gene isolated...

Bell ML, Buvoli M, Leinwand LA (2010). "Uncoupling of expression of an intronic microRNA and its myosin host gene by exon skipping". Mol. Cell. Biol. 30...

renin binding protein: complete genomic sequence and association of an intronic T/C polymorphism with the prorenin level in males". Hum. Mol. Genet. 6...

Tello J, et al. (2016). "The handedness-associated PCSK6 locus spans an intronic promoter regulating novel transcripts". Human Molecular Genetics. 25 (9):...

become altered through mutation. The genes may be encoded by mutated genes, intronic sequences, or translated alternative open reading frames, pseudogenes,...

Chua M, Chu F, Aronne L, Huma Z, et al. (September 1997). "Exonic and intronic sequence variation in the human leptin receptor gene (LEPR)". Diabetes...

Natalia N. Singh and Elliot J. Androphy, he investigated the function of the intronic splicing silencer N1 (ISS-N1) in the SMN2 gene, its involvement in exon...

Schreiner S, Neumüller N, Reither G, Haas SA, Bindereif A (Jun 2005). "Intronic CA-repeat and CA-rich elements: a new class of regulators of mammalian...

was found to have these domains which spanned over three exons with two intronic sequences. Exon A encodes a putative signal peptide, the arginine vasopressin...

elevated in the lytic stage. In Epstein-Barr virus, mir-BART2 is found in the intronic regions of the BART (Bam HI-A region rightward transcript) gene whose function...

for insertions or deletions due to creations of cryptic splice sites. Intronic splice site base changes leading to alternative splicing and in-frame exon...

gene (RPL3): sequence analysis and identification of U43 and of two novel intronic small nucleolar RNAs". Biochim. Biophys. Acta. 1490 (3): 225–36. doi:10...

(August 2023). "Differentiation block in acute myeloid leukemia regulated by intronic sequences of FTO". iScience. 26 (8) 107319. doi:10.1016/j.isci.2023.107319...

coding region in introns and exons, rather than only in intergenic and intronic regions. Second, mitochondrial DNA integrated into animal nuclear genomes...

variants including intronic variants c.418+382G>C, g.7044G>C, and IVS5+382 G>C as well as a c.149G>A missense mutation in exon 3. The intronic mutations have...

protein-protein alignments; Determination of the distribution of exonic and intronic regions of a gene; Detection of gene family members of a specific gene...

09.001. PMID 14636845. Adamia S, Reiman T, Crainie M, et al. (2005). "Intronic splicing of hyaluronan synthase 1 (HAS1): a biologically relevant indicator...

molecular level, expression of the gene RUNX1 is upregulated by the RUNX1 intronic cis-regulatory element (+23 RUNX1 enhancer). This +23 RUNX1 enhancer contains...

S2CID 24842898. Young WJ, Smith SM, Chang C (Jan 1997). "Induction of the intronic enhancer of the human ciliary neurotrophic factor receptor (CNTFRalpha)...

sequence. Bidirectional analysis of all 47 exons (including ~20bp flanking intronic regions) reveals homozygous mutation in exon 19, where threonine nucleotide...

expression of the breast cancer 1 associated ring domain 1 (BARD1) gene through intronic DNA sequence". Mol. Cell. Endocrinol. 267 (1–2): 106–15. doi:10.1016/j...

sequence-specific DNA binding DNA-binding transcription factor activity intronic transcription regulatory region sequence-specific DNA binding chromatin...

upstream of exon 2 and another highly conserved region termed the fms intronic regulatory element (FIRE). The FIRE is a 250-bp region in intron 2 that...

"Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease". Molecular...

Synergistic Action of Sox9-Regulated Wwp1 and Wwp2 E3 Ubiquitin Ligases and Intronic miR-140". Neuron. 100 (5): 1097–1115.e15. doi:10.1016/j.neuron.2018.10...

sequences only. In the majority of A to I editing the ECS is found within an intronic sequence. The editing is highly conserved having been observed in squid...

R, Costella A, Carrozza C, Zuppi C, Capoluongo E (June 2017). "CYP21A2 intronic variants causing 21-hydroxylase deficiency". Metabolism: Clinical and Experimental...

(January 2011). "Vernalization-mediated epigenetic silencing by a long intronic noncoding RNA". Science. 331 (6013): 76–79. Bibcode:2011Sci...331...76H...

gene (RPL3): sequence analysis and identification of U43 and of two novel intronic small nucleolar RNAs". Biochimica et Biophysica Acta (BBA) - Gene Structure...

development. This regulation leads to increased DNA methylation at the gene's intronic enhancer, and its reduced expression, which have lasting effects on reproductive...

phenotypes and pathologies. It is thought that microsatellites that form in intronic/non-coding regions leads to the formation of secondary DNA structures (e...

the partial coding sequence of SLC36A1 exon 2 with part of the flanking intronic regions for one non-champagne horse and one champagne horse were deposited...

Yamada R, Chang X, Suzuki A, Kochi Y, Sawada T, et al. (Dec 2003). "An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter...

R, Costella A, Carrozza C, Zuppi C, Capoluongo E (June 2017). "CYP21A2 intronic variants causing 21-hydroxylase deficiency". Metabolism. 71: 46–51. doi:10...

special case of de novo gene birth, in which, for example, often-repetitive intronic sequences acquire splice sites through mutation, leading to de novo exons...

binding protein 2 beta)". Tsukada S, Tanaka Y, Maegawa H, et al. (2006). "Intronic polymorphisms within TFAP2B regulate transcriptional activity and affect...

expansion to about 90–125 copies. The triplet is formed. They also acquried an intronic HERV(K) insertion which possibly increases transcription. Humans would...

nuclear specific genes (such as Malat1 in mammals) and increased ratio of intronic reads provide evidence for nucleus incorporation in RNA-seq analysis. Neuron...

the same DNA molecule as the gene they regulate. They may reside within intronic regions or beyond adjacent genes, exerting their regulatory influence over...

transferase activity RNA polymerase II complex binding RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding protein binding...

Matkovich SJ, Van Booven DJ, Cappola TP, Dorn GW (2010). "Association of an intronic, but not any exonic, FRMD4B sequence variant and heart failure". Clin Transl...

only necessary for an individual to have one complement of the mutated intronic sequence to appear affected. Differing from the similar Denys-Drash syndrome...

Sironen A, Thomsen B, Andersson M, Ahola V, Vilkki J (March 2006). "An intronic insertion in KPL2 results in aberrant splicing and causes the immotile...

only a number of intronic sequences. Vectorette PCR has been found to be beneficial when it comes to the characterization of these intronic sequences when...

decrease in co-clustering of AChR with raspyn. A third mutation is the intronic base alteration IVS1-15C>A and it causes abnormal splicing of RAPSN RNA...

Martin GM, Deeb SS (1998). "The human FE65 gene: genomic structure and an intronic biallelic polymorphism associated with sporadic dementia of the Alzheimer...

PMID 16059895. Shima Y, Teruya K, Ohta H (2006). "Association between intronic SNP in urate-anion exchanger gene, SLC22A12, and serum uric acid levels...

essential splicing proteins, known as intron-encoded proteins or IEPs, in intronic ORFs. The length of these introns can, as a result, be up to 3 kb. Splicing...

the human integrin variant beta4E is produced by partial retention of intronic sequences". Biochemical and Biophysical Research Communications. 235 (3):...

should be offered as a sibling recurrence is 25% with each conception. An intronic single nucleotide polymorphism (SNP) in SKIV2L on genome wide association...

is composed of four exons (only one contains coding region) and three intronic elements. Expression of the genomic sequence is regulated via three promoters...

transporter system A gene by amino acid availability is mediated by an intronic element". J. Biol. Chem. 279 (5): 3463–71. doi:10.1074/jbc.M310483200....

the studied population. The identified MRAP2 eight variants were either: intronic, synonymous, non-synonymous, and coding. Studying the effect of those variants...

spontaneous mutations have been reported in plants that are caused by intronic Helitron insertions that result in the generation of chimeric transcript...

GluR6 pre-mRNA occurs in an asymmetrical loop of three exonic and four intronic nucleotides. The Q/R editing site is also observed in GluR2 and GluR5....

also show high expression of nfyc and CDH1 genes. The expression of these intronic microRNAs is essential for maintaining the differentiated phenotype of...

accumulation of methylation and gene silencing nucleosomes reduces expression of intronic miRNA affecting. This has been observed in cancers which benefit from the...

S, Takahashi A, Tsunoda T, Nakamura Y, Yamamoto K (December 2003). "An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter...

Li J, Li S, Chen L, Ding H, Zhao Q, Fan M, Shen B, Shao N (June 2010). "Intronic miR-301 feedback regulates its host gene, ska2, in A549 cells by targeting...

Chauvin, M.; Derouin, F.; Lorenzo, F. (2004-09-15). "Polymorphisms and intronic structures in the 18S subunit ribosomal RNA gene of the fungi Scytalidium...

named R63 and Z106 respectively. Factors involved in the processing of the intronic snoRNA have recently been elucidated. Galardi, S.; Fatica, A.; Bachi, A...

PRRL14 and YWHAH genes. The clinical relevance of this gene includes an intronic SNP (rs1012068) that has been associated with a 2-fold hepatocellular carcinoma-risk...

occurs in exonic and intronic sequences at the same time. There is a high level of conservation of the last 150 nucleotides of the intronic region and the start...

a glucocorticoid response-like element composed of a GTT repeat and an intronic CCCCT repeat". Genomics. 29 (2): 390–396. doi:10.1006/geno.1995.9990. PMID 8666386...

variants for FAM89A. The gene is composed of two exons flanking one large intronic region. FAM89A is neighboring the genes TRIM67 (Tripartite Motif Containing...

IFI44L protein (change notated as His73Arg); and b) rs1333969 which has an intronic change (i.e., a change that does not alter the amino acid sequence of the...

exon-intron junctions. In addition, they discovered that two different intronic structures existed, defining what they called group I and group II introns...

"The Dunaliella salina organelle genomes: large sequences, inflated with intronic and intergenic DNA". BMC Plant Biology. 10: 83. doi:10.1186/1471-2229-10-83...

2021-09-14. de la Peña, Marcos; García-Robles, Inmaculada (2010-09-01). "Intronic hammerhead ribozymes are ultraconserved in the human genome". EMBO Reports...

diseases. The vast majority of single nucleotide variants in LNPEP are intronic variants that are part of an extended haplotype that functions as a transcriptional...

Martens GJ, Kolk SM, Aschrafi A (2012). "A potential regulatory role for intronic microRNA-338-3p for its host gene encoding apoptosis-associated tyrosine...

Fathallah, Rajaa (2023-02-08). "A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing". EMBO Molecular...

transcription repressor activity, RNA polymerase II-specific RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding DNA-binding...

gene (RPL3): sequence analysis and identification of U43 and of two novel intronic small nucleolar RNAs". Biochimica et Biophysica Acta (BBA) - Gene Structure...

Ramaswamy S, Maheswaran S, Diederichs S, Haber DA (December 2013). "The IGF2 intronic miR-483 selectively enhances transcription from IGF2 fetal promoters and...

"Bioinformatics analysis of plant orthologous introns: identification of an intronic tRNA-like sequence". Gene. 548 (1): 81–90. doi:10.1016/j.gene.2014.07.012...

gene (RPL3): sequence analysis and identification of U43 and of two novel intronic small nucleolar RNAs". Biochimica et Biophysica Acta (BBA) - Gene Structure...

Achal K.; Mukerji, Mitali (September 2017). "A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7-CAG Expansion...

Retrieved 2016-04-24. de la Peña M, García-Robles I (September 2010). "Intronic hammerhead ribozymes are ultraconserved in the human genome". EMBO Reports...

(snoRNAs), and other short RNAs. Long non-coding RNAs include lincRNAs, intronic ncRNAs, circular and linear ncRNA. Long intergenic Non-coding RNA (LincRNA)...

pituitary tumour cells. Han J, Denli AM, Gage FH (2012). "The enemy within: intronic miR-26b represses its host gene, ctdsp2, to regulate neurogenesis". Genes...

A, St-Onge J, Gaspar C, Dion Y, et al. (October 2009). "Association of intronic variants of the BTBD9 gene with Tourette syndrome". Archives of Neurology...

fertility. A genome-wide association study (GWAS) in horses has linked an intronic polymorphism in SLC39A12 to endurance racing performance in Arabian horses...

protein binding DNA-binding transcription factor activity RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding RNA polymerase...

mutations have been identified in patients with developmental delay. Several intronic variants have been associated with addiction and were found to alter the...

sequences (CDS) are discontinuous, and, to ensure their proper identification, intronic regions must be filtered. To do so, annotation pipelines must find the...

activity, RNA polymerase II-specific metal ion binding RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding DNA-binding...

Kleinman JE, Weinberger DR, Weickert CS (January 2007). "Disease-associated intronic variants in the ErbB4 gene are related to altered ErbB4 splice-variant...

(also known as vacuole membrane protein). Although it resides within the intronic region of this gene and shares the same direction of transcription, miR-21...