HsaEX0056537 @ hg38
Exon Skipping
Gene
ENSG00000144285 | SCN1A
Description
sodium voltage-gated channel alpha subunit 1 [Source:HGNC Symbol;Acc:HGNC:10585]
Coordinates
chr2:166002472-166009841:-
Coord C1 exon
chr2:166009719-166009841
Coord A exon
chr2:166007230-166007293
Coord C2 exon
chr2:166002472-166002753
Length
64 bp
Sequences
Splice sites
3' ss Seq
TATATTTCTATTTTGTATAGGAT
3' ss Score
7.53
5' ss Seq
TGGGTACTG
5' ss Score
2.97
Exon sequences
Seq C1 exon
GTTTCATTGGTCAGTTTAACAGCAAATGCCTTGGGTTACTCAGAACTTGGAGCCATCAAATCTCTCAGGACACTAAGAGCTCTGAGACCTCTAAGAGCCTTATCTCGATTTGAAGGGATGAGG
Seq A exon
GATAATCTTGCTCCAACTTGGATGGGGTGGAGCGCTGGTTCCTCCCCTGAGCCCTTTATTATGG
Seq C2 exon
GTGGTTGTGAATGCCCTTTTAGGAGCAATTCCATCCATCATGAATGTGCTTCTGGTTTGTCTTATATTCTGGCTAATTTTCAGCATCATGGGCGTAAATTTGTTTGCTGGCAAATTCTACCACTGTATTAACACCACAACTGGTGACAGGTTTGACATCGAAGACGTGAATAATCATACTGATTGCCTAAAACTAATAGAAAGAAATGAGACTGCTCGATGGAAAAATGTGAAAGTAAACTTTGATAATGTAGGATTTGGGTATCTCTCTTTGCTTCAAGTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144285_MULTIEX1-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
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=PD(11.0=45.5)
C2:
PF0052026=Ion_trans=FE(40.6=100)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGCAAATGCCTTGGGTTACT
R:
TGGAATTGCTCCTAAAAGGGCA
Band lengths:
138-202
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