HsaEX6016400 @ hg38
Exon Skipping
Gene
ENSG00000144285 | SCN1A
Description
sodium voltage-gated channel alpha subunit 1 [Source:HGNC Symbol;Acc:HGNC:10585]
Coordinates
chr2:166046770-166048949:-
Coord C1 exon
chr2:166048886-166048949
Coord A exon
chr2:166047627-166047768
Coord C2 exon
chr2:166046770-166046976
Length
142 bp
Sequences
Splice sites
3' ss Seq
TTCTTTTACCCCACTTGCAGCCA
3' ss Score
8.71
5' ss Seq
CTGGTGAGA
5' ss Score
7.54
Exon sequences
Seq C1 exon
GATATCATTATTTCCTGGAGGGTTTTTTAGATGCACTACTATGTGGAAATAGCTCTGATGCAGG
Seq A exon
CCAATGTCCAGAGGGATATATGTGTGTGAAAGCTGGTAGAAATCCCAATTATGGCTACACAAGCTTTGATACCTTCAGTTGGGCTTTTTTGTCCTTGTTTCGACTAATGACTCAGGACTTCTGGGAAAATCTTTATCAACTG
Seq C2 exon
ACATTACGTGCTGCTGGGAAAACGTACATGATATTTTTTGTATTGGTCATTTTCTTGGGCTCATTCTACCTAATAAATTTGATCCTGGCTGTGGTGGCCATGGCCTACGAGGAACAGAATCAGGCCACCTTGGAAGAAGCAGAACAGAAAGAGGCCGAATTTCAGCAGATGATTGAACAGCTTAAAAAGCAACAGGAGGCAGCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144285-'20-40,'20-39,21-40
Average complexity
C1
Mappability confidence:
88%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.188
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(7.9=100)
A:
PF0052026=Ion_trans=FE(17.6=100),PF0253517=Zip=PU(12.0=41.7)
C2:
PF0052026=Ion_trans=PD(11.6=44.9),PF0253517=Zip=FE(40.7=100),PF0293211=Neur_chan_memb=PU(33.0=89.9)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGATGCACTACTATGTGGAAATAGCT
R:
TGAGCTGCCTCCTGTTGCTTT
Band lengths:
242-384
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains