HsaEX0056566 @ hg19
Exon Skipping
Gene
ENSG00000196876 | SCN8A
Description
sodium channel, voltage gated, type VIII, alpha subunit [Source:HGNC Symbol;Acc:10596]
Coordinates
chr12:52159455-52163119:+
Coord C1 exon
chr12:52159455-52159811
Coord A exon
chr12:52161897-52161956
Coord C2 exon
chr12:52162649-52163119
Length
60 bp
Sequences
Splice sites
3' ss Seq
GCCTTACTCTTCTTCCCAAGTAT
3' ss Score
5.12
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
Exon sequences
Seq C1 exon
CTCCGAGTCTTCAAATTGGCCAAATCCTGGCCCACCCTGAACATGCTAATCAAGATTATTGGAAATTCAGTGGGTGCCCTGGGCAACCTGACACTGGTGCTGGCCATTATTGTCTTCATCTTTGCCGTGGTGGGGATGCAACTCTTTGGAAAAAGCTACAAAGAGTGTGTCTGCAAGATCAACCAGGACTGTGAACTCCCTCGCTGGCATATGCATGACTTTTTCCATTCCTTCCTCATTGTCTTTCGAGTGTTGTGCGGGGAGTGGATTGAGACCATGTGGGACTGCATGGAAGTGGCAGGCCAGGCCATGTGCCTCATTGTCTTTATGATGGTCATGGTGATTGGCAACTTGGTG
Seq A exon
TATGACAAAGTAAGGACCAAGTGTAAATCAAGAAGTGAGCACCTCTCCCACTCCTAAAAA
Seq C2 exon
GTGCTGAACCTGTTTCTGGCCTTGCTCCTGAGCTCCTTCAGTGCAGACAACCTGGCTGCCACAGATGACGATGGGGAAATGAACAACCTCCAGATCTCAGTGATCCGTATCAAGAAGGGTGTGGCCTGGACCAAACTAAAGGTGCACGCCTTCATGCAGGCCCACTTTAAGCAGCGTGAGGCTGATGAGGTGAAGCCTCTGGATGAGTTGTATGAAAAGAAGGCCAACTGTATCGCCAATCACACCGGTGCAGACATCCACCGGAATGGTGACTTCCAGAAGAATGGCAATGGCACAACCAGCGGCATTGGCAGCAGCGTGGAGAAGTACATCATTGATGAGGACCACATGTCCTTCATCAACAACCCCAACTTGACTGTACGGGTACCCATTGCTGTGGGCGAGTCTGACTTTGAGAACCTCAACACAGAGGATGTTAGCAGCGAGTCGGATCCTGAAGGCAGCAAAGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196876-'20-22,'20-21,21-22
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.223
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=PD(65.9=97.6)
A:
PF0052026=Ion_trans=PD(0.1=0.0)
C2:
PF0052026=Ion_trans=PD(4.2=5.1),PF065128=Na_trans_assoc=PU(61.0=84.7)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGACCATGTGGGACTGCATG
R:
CCAGGTTGTCTGCACTGAAGG
Band lengths:
142-202
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
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)