HsaINT0037731 @ hg38
Intron Retention
Gene
ENSG00000100473 | COCH
Description
cochlin [Source:HGNC Symbol;Acc:HGNC:2180]
Coordinates
chr14:30885796-30890616:+
Coord C1 exon
chr14:30885796-30886312
Coord A exon
chr14:30886313-30889615
Coord C2 exon
chr14:30889616-30890616
Length
3303 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
3' ss Seq
TTAAAATGTTTTCATTGTAGGAA
3' ss Score
9.65
Exon sequences
Seq C1 exon
GCTGTCTGTCGGAATAATGGCTTCTTCTCTTACCACATGCCCAACTGGTTTGGCACCACAAAATACGTAAAGCCTCTGGTACAGAAGCTGTGCACTCATGAACAAATGATGTGCAGCAAGACCTGTTATAACTCAGTGAACATTGCCTTTCTAATTGATGGCTCCAGCAGTGTTGGAGATAGCAATTTCCGCCTCATGCTTGAATTTGTTTCCAACATAGCCAAGACTTTTGAAATCTCGGACATTGGTGCCAAGATAGCTGCTGTACAGTTTACTTATGATCAGCGCACGGAGTTCAGTTTCACTGACTATAGCACCAAAGAGAATGTCCTAGCTGTCATCAGAAACATCCGCTATATGAGTGGTGGAACAGCTACTGGTGATGCCATTTCCTTCACTGTTAGAAATGTGTTTGGCCCTATAAGGGAGAGCCCCAACAAGAACTTCCTAGTAATTGTCACAGATGGGCAGTCCTATGATGATGTCCAAGGCCCTGCAGCTGCTGCACATGATGCAG
Seq A exon
GTAAGGTCCTTGTTCTTTATAGGAGAAGGGAACAGAAAAAACGGTTCAGTGAATTTAGGAGTAAATAAAAATTTAAGCATTTATTTCATTAAACAAACACCTGTGGCTTTACCCAATATTAACTGTTAAAGCAGCCCTACTCATCTCATTCTACAGATAAGGAAGCAAACTTCCTGGAAATGACATTTCTAGTAAGTGGCAAGGCCAAGATCCAAACCCAGGCATTCTGGCTCCAGAGTGCACATTCCTAACCACTGTATTGTTGGGAGAATTGCCATGAGAACCATGTCACATTAAGGAAATATGCTTATACATATACAATTAAGGTGCTCATATTTAGCTCAAACTTGGACTATATCTCCAAATAGCCAGCTTATAACCTACCATGAATCTGCCATTCAGTAATTTATCCTAACTTTCTTGTGTATGAAACAGGTAATTGCTCTGTCACCAGGCTGGAGTGCAGTGGCATGTAGTGAGCTACAACCTCCAACTATTGGGCTCAAGCAATCCTCCTGTGTCAGCCTTCCAAATAGCTAGGACGACAGGCACATGCCACTGCCCCTGGCTAATTTTTAAATTTTTTTGGGGAGAGACGGGGGTCTCACTTTGTTGCCCAGGCTGATCTCAAACTCCTGGGCTCAAGCAATCCTCACACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCACACCCAACCCTAACTTTTATTTTAGTCAAGTTTTGTCTGGCATGAGTTTCCTAAGATAAGGTCTCCCATAGACTTTACCTATCCCATCAAAATTTCCTTGGCCAGGTGCAGTGGCTCACATCTGTAATTCAGCACTTTGGGAGGCTGAGGTGGGCGGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCGGGCCAACATGGTAAAACCCAGTCTCTATTAAAAATACAAAAATTAGCTGGGTGTGGTAACATACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAATGAACTGAGATCGTGCCATTGTACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAGAAAAAAAAAAAAAAAAAAAAACTTTTTCCCCCCCGCTTAAGATAATAAAAACACACTCTGGTGTTATAAAAGGGTATAAGAAGGGTTTCTTTCTTCCTCACCCCAGCCTTAATATTACTTTTGGCACAGGCCTCGTTCCTGAAGACATTAACGTAATGTGTTAGAGATCAAATAGGCCAACAAAAAGCTAAGATTCCCTTTCTGAGGATATAACTGAGTGACAGGAGGGAAGAATCAATGGACTTGTTTTTTTTAACACTCTTCTGTACCTCATTTTCCCTACTTAATTCCTAATGACATAACCTTTTTCCTTTCTACACATTAGTACCTCTGCCAATGTACTCACATATTTTTACAGATACTGATGAAAGATTATTCTTAAAACAGAGAACACATGCAATTTAAGTTCCACATCTAGCTTGTAAAAAGTATTTTTTATACATCAGCAACTAGCCTGTGAAGTAAAGACCTGTTTACTATCATATTCCTTAATACTTAGCTTACTGAACTTATAGTTAACAGGATTGTATTCAGGCTATAAAGTGATTAGGTTGATTAAAGTTCAGGAGGCTGGACTACACCAATATTGATTCGTGAAAATTATCCCTTAGTGATATTGAAAGTTGCAAAAGCCAGAAAATAGGGTAGGATTTTAGGGGTAGATCACAACAGTTTTTATTTATTTTCAGGGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTGTGATTATTTTTTTTTTTAACTGTAATTATATGCTGGGCTTGAGCTAAACAATCTGAACTAGAATGTAGAACTGAAAAGAAGTGAGGAAAACTGAGGGGGAGGAAAAAAATATTTTGACTTTTTTTTTTTTTAACCAGGGAGTGAGAGTCAGGAAAAGGAGACTGGAACAATTGGACATTGTTCCAAGTAGCTTTTACATCATCTAAACCTGCTGCATATCTTAGGTATTTACCACTCTGAGCACTGTATACCACTAGAAGGGGAATGAAACCTTAGATCTGTAGAGGAAAACTATTACAGAAACTCCAAAAGTTATAGAAAATTGCACCCAGCATTAGATAGATGGTACTCTACACTAAGAATCTGCTAAATGAGGCCAGGTGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCGCTTGAGCCCTGGAGTTCGAGATGAGACCAGCCTGAACAACATGGTGAAACCCCATCTCTACAAAGAAATTTAAAAATTAGCTGGGCTTAGTGGCATGCGCTTGTAGTCCCAGCTATTTGAGGATGGGGGTGCTGAGGAGGATAGTTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCCTTGATTGTACCACTGCACTCCAGCATGGGCAAAAGAGCCAGACCCTGTCTGAGAAAAAAAAAAAAAAAAGATTAAATGAAAACTTCTACAATTGGGATTGGGGTGAATCCAACTAATGTATTATTACCCTAAATGTACAGTTGTACTAAAAGCCTTCTAGTAACTAAAGTGAATGGAAATAGAATACCTCAATGAAACTGGAAGAAATTACTCCAGTTTCATAAGATCCCTCTTGGGCAGTACTTTTTAGTCACTAGTTTTGCTTTGGGATTATAGGCTGACATTTTCTGATTATTAGACAGTTTGCCAATATAAAGATTGAAATGGAAGAGGATTTTTCATTATCAGAGGACTAGTCACCATTCCTCAAACAATGCAACCTTTGAACACTTTTGCTATTTACTTATCCCATCTCTTGTGCCATTCTTCCTTGCTTTAATGGATTGTGACTCTGACTCCAGTATACTGTTTGATGCAGGCCAACCTCATACGGAAAATTTTCACCATCCGCATTTACTGTAGGATTTTAAAAAAGATACTGTGGATCAGGTTAAAAGTCTTCTTCTATTCCTAGTTTATAGGTGTGTTCTGTCATTAATGGATATTGAACTTTATCAAATTATTTCTTATCAGTGATGACTTACCTGTTAATGTGGCGAATTACAGATATAGCAGAGTTTCTGGTTTGGACCACTCTTTTGCCACTCTCGTCACAATGACTGTGAAAACTTAATTTGTTCAGGGGATTTAATTGTCCAGAAATTAGTAAGCAGTTTTCGCTGCAACTATGTAACAGTGTATGGAAAACATATAGACATAATTCCATATATTAGCTAGACCTGATTTTCAATTCACTTTAAAATGTTTTCATTGTAG
Seq C2 exon
GAATCACTATCTTCTCTGTTGGTGTGGCTTGGGCACCTCTGGATGACCTGAAAGATATGGCTTCTAAACCGAAGGAGTCTCATGCTTTCTTCACAAGAGAGTTCACAGGATTAGAACCAATTGTTTCTGATGTCATCAGAGGCATTTGTAGAGATTTCTTAGAATCCCAGCAATAATGGTAACATTTTGACAACTGAAAGAAAAAGTACAAGGGGATCCAGTGTGTAAATTGTATTCTCATAATACTGAAATGCTTTAGCATACTAGAATCAGATACAAAACTATTAAGTATGTCAACAGCCATTTAGGCAAATAAGCACTCCTTTAAAGCCGCTGCCTTCTGGTTACAATTTACAGTGTACTTTGTTAAAAACACTGCTGAGGCTTCATAATCATGGCTCTTAGAAACTCAGGAAAGAGGAGATAATGTGGATTAAAACCTTAAGAGTTCTAACCATGCCTACTAAATGTACAGATATGCAAATTCCATAGCTCAATAAAAGAATCTGATACTTAGACCAAAAGCAACATTCGTTCTCTAACCATTCTGTATTGATTATATAAGCAAAATGAAAAGAGAAACTTAAATGAACACAGCTCTTTAACATGGTTCAGGTACACATATTTTGACCCAAGTGGATATTTTCTTAAAACCAATCAATAATAGCTAGCTATTACTGCAGACTATAAAATCTGGATATAGAAAGGAGACCTGTATCAAACTGCTTTTGTAGTGTGTTTTCATAACAACTTATGACTAAAAATATCACACTGAATAAGAGAGCAGGATTGCCAGGTATTTTTCTATTTCTCTCCTTAATTTTATATGTATATAGATATATTTGGCTTATATTCTAAGTCACCTAAGTACTTAAAAGTTAAGTTGGTAAAGTATTTACTGACTGCTTATAAACATTTAAAGACAAAGACATTTCAAATAACTGCAGAAAAAATATTGTAGTTTGAATATTTAAGCAATAAAACTGCTAGTGAGTTATTGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100473:ENST00000460581:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.001 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0009223=VWA=PD(3.7=3.5),PF0009223=VWA=PU(72.8=72.8)
A:
NA
C2:
PF0009223=VWA=PD(26.6=78.0)
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development