HsaEX6016442 @ hg38
Exon Skipping
Gene
ENSG00000136546 | SCN7A
Description
sodium voltage-gated channel alpha subunit 7 [Source:HGNC Symbol;Acc:HGNC:10594]
Coordinates
chr2:166412530-166416985:-
Coord C1 exon
chr2:166416707-166416985
Coord A exon
chr2:166413068-166413121
Coord C2 exon
chr2:166412530-166412667
Length
54 bp
Sequences
Splice sites
3' ss Seq
AATGCATTTTATTTTTACAGGCA
3' ss Score
8.45
5' ss Seq
GCTGTAAGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
GTGGTTGTGAGAGCTTTGATCAAAACAACCTTACCCACTTTGAATGTGTTTCTTGTCTGCCTGATGATCTGGCTGATTTTTAGTATCATGGGAGTAGACTTATTTGCTGGCAGATTCTATGAATGCATTGACCCAACAAGTGGAGAAAGGTTTCCTTCATCTGAAGTCATGAATAAGAGTCGGTGTGAAAGCCTTCTGTTTAACGAATCCATGCTATGGGAAAATGCAAAAATGAACTTTGATAATGTTGGAAATGGTTTCCTTTCTCTGCTTCAAGTA
Seq A exon
GCAACATTTAATGGATGGATCACTATTATGAATTCAGCAATTGATTCTGTTGCT
Seq C2 exon
GTTAATATACAGCCTCATTTTGAAGTCAACATCTACATGTATTGTTACTTTATCAACTTTATTATATTTGGAGTATTTCTCCCTCTGAGTATGCTGATTACTGTTATTATTGATAATTTCAACAAGCATAAAATAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136546-'33-43,'33-42,35-43=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(41.3=100)
A:
PF0052026=Ion_trans=FE(7.6=100)
C2:
PF0052026=Ion_trans=PD(15.7=76.1)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCGGTGTGAAAGCCTTCTGT
R:
TGTTGACTTCAAAATGAGGCTGT
Band lengths:
132-186
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains