HsaEX6016335 @ hg19
Exon Skipping
Gene
ENSG00000153253 | SCN3A
Description
sodium channel, voltage-gated, type III, alpha subunit [Source:HGNC Symbol;Acc:10590]
Coordinates
chr2:166010962-166018881:-
Coord C1 exon
chr2:166018818-166018881
Coord A exon
chr2:166012272-166012413
Coord C2 exon
chr2:166010962-166011168
Length
142 bp
Sequences
Splice sites
3' ss Seq
TCCATTTCTCTCTCTTATAGCCA
3' ss Score
10.75
5' ss Seq
TTGGTAAGG
5' ss Score
8.92
Exon sequences
Seq C1 exon
GTCACTTTTATGTTTTGGATGGGCAAAAAGACCCTTTACTCTGTGGAAATGGCTCAGATGCAGG
Seq A exon
CCAGTGTCCAGAAGGATACATCTGTGTGAAGGCTGGTCGAAACCCCAACTATGGCTACACAAGCTTTGACACCTTTAGCTGGGCTTTCCTGTCTCTATTTCGACTCATGACTCAAGACTACTGGGAAAATCTTTACCAGTTG
Seq C2 exon
ACATTACGTGCTGCTGGGAAAACATACATGATATTTTTTGTCCTGGTCATTTTCTTGGGCTCATTTTATTTGGTGAATTTGATCCTGGCTGTGGTGGCCATGGCCTATGAGGAGCAGAATCAGGCCACCTTGGAAGAAGCAGAACAAAAAGAGGCCGAATTTCAGCAGATGCTCGAACAGCTTAAAAAGCAACAGGAAGAAGCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000153253-'11-12,'11-11,12-12=AN
Average complexity
A_S
Mappability confidence:
100%=50=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.101
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(7.8=100)
A:
PF0052026=Ion_trans=FE(17.5=100)
C2:
PF0052026=Ion_trans=PD(11.6=44.9)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGCAAAAAGACCCTTTACTCTGT
R:
CTGAGCTTCTTCCTGTTGCTT
Band lengths:
251-393
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)