HsaEX6066579 @ hg19
Exon Skipping
Gene
ENSG00000196876 | SCN8A
Description
sodium channel, voltage gated, type VIII, alpha subunit [Source:HGNC Symbol;Acc:10596]
Coordinates
chr12:52182479-52184286:+
Coord C1 exon
chr12:52182479-52182532
Coord A exon
chr12:52183065-52183202
Coord C2 exon
chr12:52184182-52184286
Length
138 bp
Sequences
Splice sites
3' ss Seq
TTTATCCTGTCCTTTGACAGCCT
3' ss Score
8.89
5' ss Seq
AAGATAGGT
5' ss Score
2.1
Exon sequences
Seq C1 exon
GCAACCTTCAAAGGCTGGATGGACATCATGTATGCAGCTGTAGATTCCCGGAAG
Seq A exon
CCTGATGAGCAGCCTAAGTATGAGGACAATATCTACATGTACATCTATTTTGTCATCTTCATCATCTTCGGCTCCTTCTTCACCCTGAACCTGTTCATTGGTGTCATCATTGATAACTTCAATCAACAAAAGAAAAAG
Seq C2 exon
TTCGGAGGTCAGGACATCTTCATGACCGAAGAACAGAAGAAGTACTACAATGCCATGAAAAAGCTGGGCTCAAAGAAGCCACAGAAACCTATTCCCCGCCCCTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196876-'30-31,'30-30,31-31=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=FE(11.3=100)
A:
PF0052026=Ion_trans=PD(23.2=76.1)
C2:
NO
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:
CCTTCAAAGGCTGGATGGACA
R:
AAGGGGCGGGGAATAGGTTTC
Band lengths:
154-292
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)