HsaEX6016357 @ hg19
Exon Skipping
Gene
ENSG00000136531 | SCN2A
Description
sodium channel, voltage-gated, type II, alpha subunit [Source:HGNC Symbol;Acc:10588]
Coordinates
chr2:166183362-166198979:+
Coord C1 exon
chr2:166183362-166183494
Coord A exon
chr2:166187840-166188078
Coord C2 exon
chr2:166198806-166198979
Length
239 bp
Sequences
Splice sites
3' ss Seq
TCTAACTTTTTTTCTTCCAGAAC
3' ss Score
10.8
5' ss Seq
CTGGTAAGC
5' ss Score
8.69
Exon sequences
Seq C1 exon
GGCACAACTACTGAAACAGAAATAAGAAAGAGACGGTCCAGTTCTTATCATGTTTCCATGGATTTATTGGAAGATCCTACATCAAGGCAAAGAGCAATGAGTATAGCCAGTATTTTGACCAACACCATGGAAG
Seq A exon
AACTTGAAGAATCCAGACAGAAATGCCCACCATGCTGGTATAAATTTGCTAATATGTGTTTGATTTGGGACTGTTGTAAACCATGGTTAAAGGTGAAACACCTTGTCAACCTGGTTGTAATGGACCCATTTGTTGACCTGGCCATCACCATCTGCATTGTCTTAAATACACTCTTCATGGCTATGGAGCACTATCCCATGACGGAGCAGTTCAGCAGTGTACTGTCTGTTGGAAACCTG
Seq C2 exon
GTCTTCACAGGGATCTTCACAGCAGAAATGTTTCTCAAGATAATTGCCATGGATCCATATTATTACTTTCAAGAAGGCTGGAATATTTTTGATGGTTTTATTGTGAGCCTTAGTTTAATGGAACTTGGTTTGGCAAATGTGGAAGGATTGTCAGTTCTCCGATCATTCCGGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136531-'17-18,'17-17,19-18=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.333 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF119333=DUF3451=PD(16.6=82.2)
A:
PF0052026=Ion_trans=PU(1.6=3.8)
C2:
PF0052026=Ion_trans=FE(30.0=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GGCACAACTACTGAAACAGAAA
R:
GCCGGAATGATCGGAGAACTG
Band lengths:
305-544
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)