HsaEX6016359 @ hg19
Exon Skipping
Gene
ENSG00000136531 | SCN2A
Description
sodium channel, voltage-gated, type II, alpha subunit [Source:HGNC Symbol;Acc:10588]
Coordinates
chr2:166171981-166183494:+
Coord C1 exon
chr2:166171981-166172268
Coord A exon
chr2:166179666-166180010
Coord C2 exon
chr2:166183362-166183494
Length
345 bp
Sequences
Splice sites
3' ss Seq
TCTTCTCTTGTTATTCATAGTCC
3' ss Score
7.56
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
Exon sequences
Seq C1 exon
GCGGCAGCTGCAGCCGCATCTGCTGAATCAAGAGACTTCAGTGGTGCTGGTGGGATAGGAGTTTTTTCAGAGAGTTCTTCAGTAGCATCTAAGTTGAGCTCCAAAAGTGAAAAAGAGCTGAAAAACAGAAGAAAGAAAAAGAAACAGAAAGAACAGTCTGGAGAAGAAGAGAAAAATGACAGAGTCCGAAAATCGGAATCTGAAGACAGCATAAGAAGAAAAGGTTTCCGTTTTTCCTTGGAAGGAAGTAGGCTGACATATGAAAAGAGATTTTCTTCTCCACACCAG
Seq A exon
TCCTTACTGAGCATCCGTGGCTCCCTTTTCTCTCCAAGACGCAACAGTAGGGCGAGCCTTTTCAGCTTCAGAGGTCGAGCAAAGGACATTGGCTCTGAGAATGACTTTGCTGATGATGAGCACAGCACCTTTGAGGACAATGACAGCCGAAGAGACTCTCTGTTCGTGCCGCACAGACATGGAGAACGGCGCCACAGCAATGTCAGCCAGGCCAGCCGTGCCTCCAGGGTGCTCCCCATCCTGCCCATGAATGGGAAGATGCATAGCGCTGTGGACTGCAATGGTGTGGTCTCCCTGGTCGGGGGCCCTTCTACCCTCACATCTGCTGGGCAGCTCCTACCAGAG
Seq C2 exon
GGCACAACTACTGAAACAGAAATAAGAAAGAGACGGTCCAGTTCTTATCATGTTTCCATGGATTTATTGGAAGATCCTACATCAAGGCAAAGAGCAATGAGTATAGCCAGTATTTTGACCAACACCATGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136531-'14-15,'14-14,16-15=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.405 A=0.543 C2=0.333
Domain overlap (PFAM):
C1:
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)
A:
PF0293211=Neur_chan_memb=PD(30.7=61.7),PF119333=DUF3451=FE(51.1=100)
C2:
PF119333=DUF3451=PD(16.6=82.2)
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:
AGAGACTTCAGTGGTGCTGGT
R:
TGCTCTTTGCCTTGATGTAGGA
Band lengths:
354-699
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)