HsaINT0037737 @ hg38
Intron Retention
Gene
ENSG00000100473 | COCH
Description
cochlin [Source:HGNC Symbol;Acc:HGNC:2180]
Coordinates
chr14:30880452-30880734:+
Coord C1 exon
chr14:30880452-30880496
Coord A exon
chr14:30880497-30880586
Coord C2 exon
chr14:30880587-30880734
Length
90 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
3' ss Seq
ACTGGTTTGGTTGTTCGCAGATT
3' ss Score
9.13
Exon sequences
Seq C1 exon
GTAAACGACTAAAGAAAACACCCGAGAAGAAAACTGGCAATAAAG
Seq A exon
GTAAGAATCAAGATCTCCATTTGGGAAGGTAGCATTTTCCCTCCCTCCTCTTGAGACTGCTAATGAGGGGACTGGTTTGGTTGTTCGCAG
Seq C2 exon
ATTGTAAAGCAGACATTGCATTTCTGATTGATGGAAGCTTTAATATTGGGCAGCGCCGATTTAATTTACAGAAGAATTTTGTTGGAAAAGTGGCTCTAATGTTGGGAATTGGAACAGAAGGACCACATGTGGGCCTTGTTCAAGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100473:ENST00000460581:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.744 A=NA C2=0.007
Domain overlap (PFAM):
C1:
PF0381514=LCCL=PD(0.1=0.0)
A:
NA
C2:
PF0009223=VWA=PU(27.6=90.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACACCCGAGAAGAAAACTGGC
R:
GCTTGAACAAGGCCCACATGT
Band lengths:
173-263
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