HsaEX0016170 @ hg38
Exon Skipping
Gene
ENSG00000100473 | COCH
Description
cochlin [Source:HGNC Symbol;Acc:HGNC:2180]
Coordinates
chr14:30884553-30885620:+
Coord C1 exon
chr14:30884553-30884656
Coord A exon
chr14:30884985-30885041
Coord C2 exon
chr14:30885394-30885620
Length
57 bp
Sequences
Splice sites
3' ss Seq
GACTTATCTAATGAATGCAGATG
3' ss Score
4.02
5' ss Seq
GAGGTACTA
5' ss Score
6.36
Exon sequences
Seq C1 exon
TGAACATCCCAAAATAGAATTTTACTTGAAAAACTTTACATCAGCCAAAGATGTTTTGTTTGCCATAAAGGAAGTAGGTTTCAGAGGGGGTAATTCCAATACAG
Seq A exon
ATGTGGCAGAAAGAATGAGTAGCACTACCGTTGACTCTGAAGAGAGACTTCTTAGAG
Seq C2 exon
GAAAAGCCTTGAAGCATACTGCTCAGAAATTCTTCACGGTAGATGCTGGAGTAAGAAAAGGGATCCCCAAAGTGGTGGTGGTATTTATTGATGGTTGGCCTTCTGATGACATCGAGGAAGCAGGCATTGTGGCCAGAGAGTTTGGTGTCAATGTATTTATAGTTTCTGTGGCCAAGCCTATCCCTGAAGAACTGGGGATGGTTCAGGATGTCACATTTGTTGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100473-'17-23,'17-22,18-23
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.007 A=0.173 C2=0.000
Domain overlap (PFAM):
C1:
PF0009223=VWA=FE(21.5=100)
A:
PF0009223=VWA=PD(18.2=90.0),PF0009223=VWA=PU(4.6=20.0)
C2:
PF0009223=VWA=PD(47.1=94.7)
Main Inclusion Isoform:
ENST00000396618fB1714
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAAGTAGGTTTCAGAGGGGGT
R:
TGTCATCAGAAGGCCAACCAT
Band lengths:
146-203
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development