HsaINT0037739 @ hg38
Intron Retention
Gene
ENSG00000100473 | COCH
Description
cochlin [Source:HGNC Symbol;Acc:HGNC:2180]
Coordinates
chr14:30884553-30885620:+
Coord C1 exon
chr14:30884553-30884656
Coord A exon
chr14:30884657-30885393
Coord C2 exon
chr14:30885394-30885620
Length
737 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
3' ss Seq
TGCTTCTTTTTCAAATTTAGGAA
3' ss Score
10.77
Exon sequences
Seq C1 exon
TGAACATCCCAAAATAGAATTTTACTTGAAAAACTTTACATCAGCCAAAGATGTTTTGTTTGCCATAAAGGAAGTAGGTTTCAGAGGGGGTAATTCCAATACAG
Seq A exon
GTAAGTAGACTTTGATACCTGGGATGTAACATAGGAGAGGGTTATCAGTGATCAGACATGTAAAACAGTATTATGCTATTTTATATGAGCAGATGTGAAATCCTCCTGGAACTGAAATCTTGGCTAGGTCTGCATTTGATCATCTGAGATAAATTTTCAATTTATAATGGAAGTATACCAAAGTGTTGATATTTCTTATTTTAAAAAATATAAAGCATGGTGATTTAGAATTCTCATACATTGGATTGACTAGATATAACATTGGAGAAGTATCTCTTTGTAATGCTAAAAAGAAGTGAAAATCAACAGACTTATCTAATGAATGCAGATGTGGCAGAAAGAATGAGTAGCACTACCGTTGACTCTGAAGAGAGACTTCTTAGAGGTACTAATCAGTCACCAAAGGGCTACATAGAGAGCACATGCATGGAAGTGGGAATCAGTTTTGTGTTTCTAACTGGCGATTGATGTGGGGTAAACAAATGTGAGGCTTCTAGGAGGTGGAGGGGGAACTAATATGGCTTGTGAAGATAAATAGGCCTGGTAGATAATTAAACTTTCCCAGCTGATGCATCTGTTACAGAACTGGGTTCTATATAATTCTTTTTTGTGTGCCCCGCCCCACTGCCAGTTCTATATATAATTCTTAAACTTTGCAGCATCAAATGCTACAGGGAAACAGAAATGTGGTTTGAGCAGTGGTAAAGGCTATTTGTTTGCTTCTTTTTCAAATTTAG
Seq C2 exon
GAAAAGCCTTGAAGCATACTGCTCAGAAATTCTTCACGGTAGATGCTGGAGTAAGAAAAGGGATCCCCAAAGTGGTGGTGGTATTTATTGATGGTTGGCCTTCTGATGACATCGAGGAAGCAGGCATTGTGGCCAGAGAGTTTGGTGTCAATGTATTTATAGTTTCTGTGGCCAAGCCTATCCCTGAAGAACTGGGGATGGTTCAGGATGTCACATTTGTTGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100473:ENST00000460581:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.007 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0009223=VWA=FE(21.5=100)
A:
NA
C2:
PF0009223=VWA=PD(47.1=94.7)
Main Inclusion Isoform:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTACTTGAAAAACTTTACATCAGCCA
R:
CTTGTCAACAAATGTGACATCCTGA
Band lengths:
310-1047
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