HsaALTA1032729-1/2 @ hg38
Alternative 3'ss
Gene
ENSG00000144285 | SCN1A
Description
sodium voltage-gated channel alpha subunit 1 [Source:HGNC Symbol;Acc:HGNC:10585]
Coordinates
chr2:166002472-166123324:-
Coord C1 exon
chr2:166123224-166123324
Coord A exon
NA
Coord C2 exon
chr2:166002472-166002753
Length
0 bp
Sequences
Splice sites
5' ss Seq
TTTGCAAAT
5' ss Score
-10.03
3' ss Seq
TTTTTCCATTTGTGTATTAGGTG
3' ss Score
9.22
Exon sequences
Seq C1 exon
AGTGTTTACATCCCCCATAGTGGCCAGGACACAGGAGCTGCTTGGAGGGATTTGAACAAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Seq A exon
NA
Seq C2 exon
GTGGTTGTGAATGCCCTTTTAGGAGCAATTCCATCCATCATGAATGTGCTTCTGGTTTGTCTTATATTCTGGCTAATTTTCAGCATCATGGGCGTAAATTTGTTTGCTGGCAAATTCTACCACTGTATTAACACCACAACTGGTGACAGGTTTGACATCGAAGACGTGAATAATCATACTGATTGCCTAAAACTAATAGAAAGAAATGAGACTGCTCGATGGAAAAATGTGAAAGTAAACTTTGATAATGTAGGATTTGGGTATCTCTCTTTGCTTCAAGTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144285-4-59,4-58-1/2
Average complexity
Alt3
Mappability confidence:
NA
Protein Impact
5' UTR
No structure available
Features
Disorder rate (Iupred):
C1=NA A=NA C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
NA
C2:
PF0052026=Ion_trans=FE(40.6=100)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TACATCCCCCATAGTGGCCAG
R:
CGATGTCAAACCTGTCACCAGT
Band lengths:
255-410
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains