HsaEX6016362 @ hg19
Exon Skipping
Gene
ENSG00000136531 | SCN2A
Description
sodium channel, voltage-gated, type II, alpha subunit [Source:HGNC Symbol;Acc:10588]
Coordinates
chr2:166168535-166170618:+
Coord C1 exon
chr2:166168535-166168598
Coord A exon
chr2:166170130-166170271
Coord C2 exon
chr2:166170412-166170618
Length
142 bp
Sequences
Splice sites
3' ss Seq
TTCCTCTAACCTAATTATAGCCA
3' ss Score
4.57
5' ss Seq
CTGGTGAGA
5' ss Score
7.54
Exon sequences
Seq C1 exon
GTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAACAGCTCAGATGCAGG
Seq A exon
CCAGTGTCCTGAAGGATACATCTGTGTGAAGGCTGGTAGAAACCCCAACTATGGCTACACGAGCTTTGACACCTTTAGTTGGGCCTTTTTGTCCTTATTTCGTCTCATGACTCAAGACTTCTGGGAAAACCTTTATCAACTG
Seq C2 exon
ACACTACGTGCTGCTGGGAAAACGTACATGATATTTTTTGTGCTGGTCATTTTCTTGGGCTCATTCTATCTAATAAATTTGATCTTGGCTGTGGTGGCCATGGCCTATGAGGAACAGAATCAGGCCACATTGGAAGAGGCTGAACAGAAGGAAGCTGAATTTCAGCAGATGCTCGAACAGTTGAAAAAGCAACAAGAAGAAGCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136531-'10-11,'10-10,11-11=AN
Average complexity
A_S
Mappability confidence:
100%=75=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.056
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(7.8=100)
A:
PF0052026=Ion_trans=FE(17.5=100),PF0253517=Zip=PU(12.4=43.8)
C2:
PF0052026=Ion_trans=PD(11.6=44.9),PF0253517=Zip=FE(40.2=100),PF0043013=ATP-synt_B=PU(79.5=89.9),PF0293211=Neur_chan_memb=PU(26.8=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:
AGAGGGGCAAAATGATGCTCTG
R:
TGTTGCTTTTTCAACTGTTCGAGC
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
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)