HsaEX0056538 @ hg38
Exon Skipping
Gene
ENSG00000144285 | SCN1A
Description
sodium voltage-gated channel alpha subunit 1 [Source:HGNC Symbol;Acc:HGNC:10585]
Coordinates
chr2:165999723-166009841:-
Coord C1 exon
chr2:166009719-166009841
Coord A exon
chr2:166002472-166002753
Coord C2 exon
chr2:165999723-165999776
Length
282 bp
Sequences
Splice sites
3' ss Seq
TTTTTCCATTTGTGTATTAGGTG
3' ss Score
9.22
5' ss Seq
GTTGTAAGT
5' ss Score
8.3
Exon sequences
Seq C1 exon
GTTTCATTGGTCAGTTTAACAGCAAATGCCTTGGGTTACTCAGAACTTGGAGCCATCAAATCTCTCAGGACACTAAGAGCTCTGAGACCTCTAAGAGCCTTATCTCGATTTGAAGGGATGAGG
Seq A exon
GTGGTTGTGAATGCCCTTTTAGGAGCAATTCCATCCATCATGAATGTGCTTCTGGTTTGTCTTATATTCTGGCTAATTTTCAGCATCATGGGCGTAAATTTGTTTGCTGGCAAATTCTACCACTGTATTAACACCACAACTGGTGACAGGTTTGACATCGAAGACGTGAATAATCATACTGATTGCCTAAAACTAATAGAAAGAAATGAGACTGCTCGATGGAAAAATGTGAAAGTAAACTTTGATAATGTAGGATTTGGGTATCTCTCTTTGCTTCAAGTT
Seq C2 exon
GCCACATTCAAAGGATGGATGGATATAATGTATGCAGCAGTTGATTCCAGAAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144285-'40-62,'40-59,43-62
Average complexity
C2
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(17.5=100)
A:
PF0052026=Ion_trans=FE(40.6=100)
C2:
PF0052026=Ion_trans=FE(7.4=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ATTGGTCAGTTTAACAGCAAATGCC
R:
ATTTCTGGAATCAACTGCTGCA
Band lengths:
172-454
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development