HsaEX6066577 @ hg19
Exon Skipping
Gene
ENSG00000196876 | SCN8A
Description
sodium channel, voltage gated, type VIII, alpha subunit [Source:HGNC Symbol;Acc:10596]
Coordinates
chr12:52184182-52202297:+
Coord C1 exon
chr12:52184182-52184286
Coord A exon
chr12:52188155-52188425
Coord C2 exon
chr12:52200066-52202297
Length
271 bp
Sequences
Splice sites
3' ss Seq
TTCCTTCCCTTCCTCCCCAGAAC
3' ss Score
11.74
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
Exon sequences
Seq C1 exon
TTCGGAGGTCAGGACATCTTCATGACCGAAGAACAGAAGAAGTACTACAATGCCATGAAAAAGCTGGGCTCAAAGAAGCCACAGAAACCTATTCCCCGCCCCTTG
Seq A exon
AACAAAATCCAAGGAATCGTCTTTGATTTTGTCACTCAGCAAGCCTTTGACATTGTTATCATGATGCTCATCTGCCTTAACATGGTGACAATGATGGTGGAGACAGACACTCAAAGCAAGCAGATGGAGAACATCCTCTACTGGATTAACCTGGTGTTTGTTATCTTCTTCACCTGTGAGTGTGTGCTCAAAATGTTTGCGTTGAGGCACTACTACTTCACCATTGGCTGGAACATCTTCGACTTCGTGGTAGTCATCCTCTCCATTGTGG
Seq C2 exon
GAATGTTCCTGGCAGATATAATTGAGAAATACTTTGTTTCCCCAACCCTATTCCGAGTCATCCGATTGGCCCGTATTGGGCGCATCTTGCGTCTGATCAAAGGCGCCAAAGGGATTCGTACCCTGCTCTTTGCCTTAATGATGTCCTTGCCTGCCCTGTTCAACATCGGCCTTCTGCTCTTCCTGGTCATGTTCATCTTCTCCATTTTTGGGATGTCCAATTTTGCATATGTGAAGCACGAGGCTGGTATCGATGACATGTTCAACTTTGAGACATTTGGCAACAGCATGATCTGCCTGTTTCAAATCACAACCTCAGCTGGTTGGGATGGCCTGCTGCTGCCCATCCTAAACCGCCCCCCTGACTGCAGCCTAGATAAGGAACACCCAGGGAGTGGCTTTAAGGGAGATTGTGGGAACCCCTCAGTGGGCATCTTCTTCTTTGTAAGCTACATCATCATCTCTTTCCTAATTGTCGTGAACATGTACATTGCCATCATC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196876-'32-33,'32-32,33-33=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=0.000 A=0.000 C2=0.175
Domain overlap (PFAM):
C1:
NO
A:
PF0052026=Ion_trans=PU(20.5=47.3)
C2:
PF0052026=Ion_trans=PD(79.0=43.3),PF0061222=IQ=WD(100=5.5)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GGGCTCAAAGAAGCCACAGAA
R:
TGTCATCGATACCAGCCTCGT
Band lengths:
298-569
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)