HsaEX6016360 @ hg19
Exon Skipping
Gene
ENSG00000136531 | SCN2A
Description
sodium channel, voltage-gated, type II, alpha subunit [Source:HGNC Symbol;Acc:10588]
Coordinates
chr2:166170412-166180010:+
Coord C1 exon
chr2:166170412-166170618
Coord A exon
chr2:166171981-166172268
Coord C2 exon
chr2:166179666-166180010
Length
288 bp
Sequences
Splice sites
3' ss Seq
CATACTTTGCGCCCTTCTAGGCG
3' ss Score
9.57
5' ss Seq
CAGGTAAAA
5' ss Score
8.59
Exon sequences
Seq C1 exon
ACACTACGTGCTGCTGGGAAAACGTACATGATATTTTTTGTGCTGGTCATTTTCTTGGGCTCATTCTATCTAATAAATTTGATCTTGGCTGTGGTGGCCATGGCCTATGAGGAACAGAATCAGGCCACATTGGAAGAGGCTGAACAGAAGGAAGCTGAATTTCAGCAGATGCTCGAACAGTTGAAAAAGCAACAAGAAGAAGCTCAG
Seq A exon
GCGGCAGCTGCAGCCGCATCTGCTGAATCAAGAGACTTCAGTGGTGCTGGTGGGATAGGAGTTTTTTCAGAGAGTTCTTCAGTAGCATCTAAGTTGAGCTCCAAAAGTGAAAAAGAGCTGAAAAACAGAAGAAAGAAAAAGAAACAGAAAGAACAGTCTGGAGAAGAAGAGAAAAATGACAGAGTCCGAAAATCGGAATCTGAAGACAGCATAAGAAGAAAAGGTTTCCGTTTTTCCTTGGAAGGAAGTAGGCTGACATATGAAAAGAGATTTTCTTCTCCACACCAG
Seq C2 exon
TCCTTACTGAGCATCCGTGGCTCCCTTTTCTCTCCAAGACGCAACAGTAGGGCGAGCCTTTTCAGCTTCAGAGGTCGAGCAAAGGACATTGGCTCTGAGAATGACTTTGCTGATGATGAGCACAGCACCTTTGAGGACAATGACAGCCGAAGAGACTCTCTGTTCGTGCCGCACAGACATGGAGAACGGCGCCACAGCAATGTCAGCCAGGCCAGCCGTGCCTCCAGGGTGCTCCCCATCCTGCCCATGAATGGGAAGATGCATAGCGCTGTGGACTGCAATGGTGTGGTCTCCCTGGTCGGGGGCCCTTCTACCCTCACATCTGCTGGGCAGCTCCTACCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136531-'12-14,'12-12,14-14=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.056 A=0.405 C2=0.543
Domain overlap (PFAM):
C1:
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)
A:
PF0253517=Zip=PD(45.6=80.2),PF0043013=ATP-synt_B=PD(17.9=14.6),PF0293211=Neur_chan_memb=FE(41.1=100),PF119333=DUF3451=PU(30.9=71.9)
C2:
PF0293211=Neur_chan_memb=PD(30.7=61.7),PF119333=DUF3451=FE(51.1=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CACTACGTGCTGCTGGGAAAA
R:
AGAGCCAATGTCCTTTGCTCG
Band lengths:
302-590
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)