HsaEX6070896 @ hg38
Exon Skipping
Gene
ENSG00000100473 | COCH
Description
cochlin [Source:HGNC Symbol;Acc:HGNC:2180]
Coordinates
chr14:30879423-30880734:+
Coord C1 exon
chr14:30879423-30879485
Coord A exon
chr14:30880452-30880496
Coord C2 exon
chr14:30880587-30880734
Length
45 bp
Sequences
Splice sites
3' ss Seq
AAGTGCATCTTTTATTTCAGGTA
3' ss Score
7.46
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
AAGGCAAAAGTAGTACACAGGAGGCCACAGGACAAGCAGTGTCCACAGCACATCCACCAACAG
Seq A exon
GTAAACGACTAAAGAAAACACCCGAGAAGAAAACTGGCAATAAAG
Seq C2 exon
ATTGTAAAGCAGACATTGCATTTCTGATTGATGGAAGCTTTAATATTGGGCAGCGCCGATTTAATTTACAGAAGAATTTTGTTGGAAAAGTGGCTCTAATGTTGGGAATTGGAACAGAAGGACCACATGTGGGCCTTGTTCAAGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100473-'13-19,'13-18,14-19=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.722 A=0.744 C2=0.007
Domain overlap (PFAM):
C1:
PF0381514=LCCL=PD(2.0=20.0)
A:
PF0381514=LCCL=PD(0.1=0.0)
C2:
PF0009223=VWA=PU(27.6=90.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCCACAGCACATCCACCAAC
R:
GGTCCTTCTGTTCCAATTCCCA
Band lengths:
147-192
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains