HsaEX1036209 @ hg38
Exon Skipping
Gene
ENSG00000153253 | SCN3A
Description
sodium voltage-gated channel alpha subunit 3 [Source:HGNC Symbol;Acc:HGNC:10590]
Coordinates
chr2:165115455-165128101:-
Coord C1 exon
chr2:165127631-165128101
Coord A exon
chr2:165122816-165122899
Coord C2 exon
chr2:165115455-165115575
Length
84 bp
Sequences
Splice sites
3' ss Seq
ACCATTCTTACTTCTCACAGGAG
3' ss Score
8.05
5' ss Seq
CAGGTTATC
5' ss Score
-0.23
Exon sequences
Seq C1 exon
GTTCTGAACCTCTTTCTGGCCTTATTGTTGAGTTCATTTAGCTCAGACAACCTTGCTGCTACTGATGATGACAATGAAATGAATAATCTGCAGATTGCAGTAGGAAGAATGCAAAAGGGAATTGATTATGTGAAAAATAAGATGCGGGAGTGTTTCCAAAAAGCCTTTTTTAGAAAGCCAAAAGTTATAGAAATCCATGAAGGCAATAAGATAGACAGCTGCATGTCCAATAATACTGGAATTGAAATAAGCAAAGAGCTTAATTATCTTAGAGATGGGAATGGAACCACCAGTGGTGTAGGTACTGGAAGCAGTGTTGAAAAATACGTAATCGATGAAAATGATTATATGTCATTCATAAACAACCCCAGCCTCACCGTCACAGTGCCAATTGCTGTTGGAGAGTCTGACTTTGAAAACTTAAATACTGAAGAGTTCAGCAGTGAGTCAGAACTAGAAGAAAGCAAAGAG
Seq A exon
GAGTAAAATCAAGCTGGAGCCATCAAGAATGCAGCTCTGGTGTTTTTTAACCAGCCAGAGGCTCGTGCCACCACTTTTACCCAG
Seq C2 exon
AAATTAAATGCAACCAGCTCATCTGAAGGAAGCACAGTTGATGTTGTTCTACCCCGAGAAGGTGAACAAGCTGAAACTGAACCCGAAGAAGACCTTAAACCGGAAGCTTGTTTTACTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000153253_MULTIEX1-1/4=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=0.146 A=1.000 C2=0.630
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=PD(4.2=5.1),PF065128=Na_trans_assoc=PU(60.7=84.7)
A:
PF065128=Na_trans_assoc=PD(0.1=0.0)
C2:
PF065128=Na_trans_assoc=FE(18.3=100)
Main Inclusion Isoform:
ENST00000283254fB25255
Associated events
Conservation
Cow
(bosTau6)
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:
CTCACCGTCACAGTGCCAATT
R:
CAGCTTGTTCACCTTCTCGGG
Band lengths:
172-256
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains