HsaEX6016351 @ hg19
Exon Skipping
Gene
ENSG00000136531 | SCN2A
Description
sodium channel, voltage-gated, type II, alpha subunit [Source:HGNC Symbol;Acc:10588]
Coordinates
chr2:166226636-166231476:+
Coord C1 exon
chr2:166226636-166226809
Coord A exon
chr2:166229735-166229857
Coord C2 exon
chr2:166231195-166231476
Length
123 bp
Sequences
Splice sites
3' ss Seq
GTGTTGCTTTTTCTGTATAGGTC
3' ss Score
10.28
5' ss Seq
AGGGTAAGA
5' ss Score
9.21
Exon sequences
Seq C1 exon
GCCTTTGAAGATATATACATTGAGCAGCGAAAAACCATTAAGACCATGTTAGAATATGCTGACAAGGTTTTCACTTACATATTCATTCTGGAAATGCTGCTAAAGTGGGTTGCATATGGTTTTCAAGTGTATTTTACCAATGCCTGGTGCTGGCTAGACTTCCTGATTGTTGAT
Seq A exon
GTCTCACTGGTTAGCTTAACTGCAAATGCCTTGGGTTACTCAGAACTTGGTGCCATCAAATCCCTCAGAACACTAAGAGCTCTGAGGCCACTGAGAGCTTTGTCCCGGTTTGAAGGAATGAGG
Seq C2 exon
GTTGTTGTAAATGCTCTTTTAGGAGCCATTCCATCTATCATGAATGTACTTCTGGTTTGTCTGATCTTTTGGCTAATATTCAGTATCATGGGAGTGAATCTCTTTGCTGGCAAGTTTTACCATTGTATTAATTACACCACTGGAGAGATGTTTGATGTAAGCGTGGTCAACAACTACAGTGAGTGCAAAGCTCTCATTGAGAGCAATCAAACTGCCAGGTGGAAAAATGTGAAAGTAAACTTTGATAACGTAGGACTTGGATATCTGTCTCTACTTCAAGTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136531-'25-25,'25-24,26-25=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=PU(17.0=67.2)
A:
PF0052026=Ion_trans=FE(17.5=100)
C2:
PF0052026=Ion_trans=FE(40.6=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGCTGGCTAGACTTCCTGA
R:
TCCACCTGGCAGTTTGATTGC
Band lengths:
252-375
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)