HsaEX6066581 @ hg19
Exon Skipping
Gene
ENSG00000196876 | SCN8A
Description
sodium channel, voltage gated, type VIII, alpha subunit [Source:HGNC Symbol;Acc:10596]
Coordinates
chr12:52174433-52182532:+
Coord C1 exon
chr12:52174433-52174555
Coord A exon
chr12:52180326-52180610
Coord C2 exon
chr12:52182479-52182532
Length
285 bp
Sequences
Splice sites
3' ss Seq
AACCTCCCCTTCCAATGCAGGTG
3' ss Score
9.52
5' ss Seq
GTAGTAAGT
5' ss Score
8.01
Exon sequences
Seq C1 exon
GTCTCTTTAGTCAGCCTTATAGCTAATGCCCTGGGCTACTCGGAACTAGGTGCCATAAAGTCCCTTAGGACCCTAAGAGCTTTGAGACCCTTAAGAGCCTTATCACGATTTGAAGGGATGAGG
Seq A exon
GTGGTGGTGAATGCCTTGGTGGGCGCCATCCCCTCCATCATGAATGTGCTGCTGGTGTGTCTCATCTTCTGGCTGATTTTCAGCATCATGGGAGTTAACTTGTTTGCGGGAAAGTACCACTACTGCTTTAATGAGACTTCTGAAATCCGATTTGAAATTGAAGATGTCAACAATAAAACTGAATGTGAAAAGCTTATGGAGGGGAACAATACAGAGATCAGATGGAAGAACGTGAAGATCAACTTTGACAATGTTGGGGCAGGATACCTGGCCCTTCTTCAAGTA
Seq C2 exon
GCAACCTTCAAAGGCTGGATGGACATCATGTATGCAGCTGTAGATTCCCGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196876-'27-29,'27-28,29-29=AN
Average complexity
A_C2
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=FE(17.4=100)
A:
PF0052026=Ion_trans=FE(62.3=100)
C2:
PF0052026=Ion_trans=FE(11.3=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TTTAGTCAGCCTTATAGCTAATGCCC
R:
CTTCCGGGAATCTACAGCTGC
Band lengths:
172-457
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)