HsaEX0056536 @ hg38
Exon Skipping
Gene
ENSG00000144285 | SCN1A
Description
sodium voltage-gated channel alpha subunit 1 [Source:HGNC Symbol;Acc:HGNC:10585]
Coordinates
chr2:166039423-166042424:-
Coord C1 exon
chr2:166042292-166042424
Coord A exon
chr2:166041231-166041469
Coord C2 exon
chr2:166039423-166039596
Length
239 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTCTTAATCTAGAAC
3' ss Score
8.81
5' ss Seq
TTGGTAAGC
5' ss Score
8.72
Exon sequences
Seq C1 exon
GGAACAACCACTGAAACTGAAATGAGAAAGAGAAGGTCAAGTTCTTTCCACGTTTCCATGGACTTTCTAGAAGATCCTTCCCAAAGGCAACGAGCAATGAGTATAGCCAGCATTCTAACAAATACAGTAGAAG
Seq A exon
AACTTGAAGAATCCAGGCAGAAATGCCCACCCTGTTGGTATAAATTTTCCAACATATTCTTAATCTGGGACTGTTCTCCATATTGGTTAAAAGTGAAACATGTTGTCAACCTGGTTGTGATGGACCCATTTGTTGACCTGGCCATCACCATCTGTATTGTCTTAAATACTCTTTTCATGGCCATGGAGCACTATCCAATGACGGACCATTTCAATAATGTGCTTACAGTAGGAAACTTG
Seq C2 exon
GTTTTCACTGGGATCTTTACAGCAGAAATGTTTCTGAAAATTATTGCCATGGATCCTTACTATTATTTCCAAGAAGGCTGGAATATCTTTGACGGTTTTATTGTGACGCTTAGCCTGGTAGAACTTGGACTCGCCAATGTGGAAGGATTATCTGTTCTCCGTTCATTTCGATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144285-'29-46,'29-45,30-46
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.231 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF119333=DUF3451=PD(15.7=82.2)
A:
PF0052026=Ion_trans=PU(1.6=3.8)
C2:
PF0052026=Ion_trans=FE(30.0=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:
GGAACAACCACTGAAACTGAAA
R:
TCGAAATGAACGGAGAACAGA
Band lengths:
304-543
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