HsaEX0016171 @ hg38
Exon Skipping
Gene
ENSG00000100473 | COCH
Description
cochlin [Source:HGNC Symbol;Acc:HGNC:2180]
Coordinates
chr14:30885796-30895065:+
Coord C1 exon
chr14:30885796-30886312
Coord A exon
chr14:30889616-30889793
Coord C2 exon
chr14:30894913-30895065
Length
178 bp
Sequences
Splice sites
3' ss Seq
TTAAAATGTTTTCATTGTAGGAA
3' ss Score
9.65
5' ss Seq
ATGGTAACA
5' ss Score
4.87
Exon sequences
Seq C1 exon
TGGCTTCTTCTCTTACCACATGCCCAACTGGTTTGGCACCACAAAATACGTAAAGCCTCTGGTACAGAAGCTGTGCACTCATGAACAAATGATGTGCAGCAAGACCTGTTATAACTCAGTGAACATTGCCTTTCTAATTGATGGCTCCAGCAGTGTTGGAGATAGCAATTTCCGCCTCATGCTTGAATTTGTTTCCAACATAGCCAAGACTTTTGAAATCTCGGACATTGGTGCCAAGATAGCTGCTGTACAGTTTACTTATGATCAGCGCACGGAGTTCAGTTTCACTGACTATAGCACCAAAGAGAATGTCCTAGCTGTCATCAGAAACATCCGCTATATGAGTGGTGGAACAGCTACTGGTGATGCCATTTCCTTCACTGTTAGAAATGTGTTTGGCCCTATAAGGGAGAGCCCCAACAAGAACTTCCTAGTAATTGTCACAGATGGGCAGTCCTATGATGATGTCCAAGGCCCTGCAGCTGCTGCACATGATGCAG
Seq A exon
GAATCACTATCTTCTCTGTTGGTGTGGCTTGGGCACCTCTGGATGACCTGAAAGATATGGCTTCTAAACCGAAGGAGTCTCATGCTTTCTTCACAAGAGAGTTCACAGGATTAGAACCAATTGTTTCTGATGTCATCAGAGGCATTTGTAGAGATTTCTTAGAATCCCAGCAATAATG
Seq C2 exon
CAAAATAAGTTTAAAAGGGAATCTGTGGCATTCAACCGATAAACAGAAGATCACTAAGAGATGAAAAAAAGCTACTCTTGGAGCTCACTTCCCCCAACAAGAGCACCACATTCCTAACCCCTAAGGCAGCACACAGAGTCCAAAAAAAAAAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100473-'21-27,'21-26,22-27
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.001 A=0.000 C2=0.500
Domain overlap (PFAM):
C1:
PF0009223=VWA=PD(3.7=3.5),PF0009223=VWA=PU(72.8=72.8)
A:
PF0009223=VWA=PD(26.6=78.0)
C2:
PF0009223=VWA=PD(0.8=33.3)
Main Inclusion Isoform:
ENST00000475087fB1715
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAACAGCTACTGGTGATGCC
R:
CTTGTTGGGGGAAGTGAGCTC
Band lengths:
252-430
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