HsaALTA1010493-2/2 @ hg38
Alternative 3'ss
Gene
ENSG00000100473 | COCH
Description
cochlin [Source:HGNC Symbol;Acc:HGNC:2180]
Coordinates
chr14:30878811-30879485:+
Coord C1 exon
chr14:30878811-30878944
Coord A exon
chr14:30879423-30879425
Coord C2 exon
chr14:30879426-30879485
Length
3 bp
Sequences
Splice sites
5' ss Seq
CTAGTAGGT
5' ss Score
4.34
3' ss Seq
GCTTATTTTTATTTTAACAGAAG
3' ss Score
7.05
Exon sequences
Seq C1 exon
GGGAGTAATCAGCAACTCAGGGGGACCTGTACGAGTCTATAGCCTACCTGGTCGAGAAAACTATTCCTCAGTAGATGCCAATGGCATCCAGTCTCAAATGCTTTCTAGATGGTCTGCTTCTTTCACAGTAACTA
Seq A exon
AAG
Seq C2 exon
GCAAAAGTAGTACACAGGAGGCCACAGGACAAGCAGTGTCCACAGCACATCCACCAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100473-10-17,10-16-2/2
Average complexity
Alt3
Mappability confidence:
NA
Protein Impact
Protein isoform when splice site is used (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.003 A=NA C2=0.722
Domain overlap (PFAM):
C1:
PF0381514=LCCL=PD(45.6=89.1)
A:
NA
C2:
PF0381514=LCCL=PD(2.0=20.0)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGCATCCAGTCTCAAATGCT
R:
GTGGATGTGCTGTGGACACTG
Band lengths:
107-110
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains