HsaEX6066583 @ hg19
Exon Skipping
Gene
ENSG00000196876 | SCN8A
Description
sodium channel, voltage gated, type VIII, alpha subunit [Source:HGNC Symbol;Acc:10596]
Coordinates
chr12:52162649-52164467:+
Coord C1 exon
chr12:52162649-52163119
Coord A exon
chr12:52163652-52163769
Coord C2 exon
chr12:52164313-52164467
Length
118 bp
Sequences
Splice sites
3' ss Seq
CCTTTTCCTTGCGTGTCTAGAAA
3' ss Score
9.22
5' ss Seq
AAGGTGAAA
5' ss Score
4.51
Exon sequences
Seq C1 exon
GTGCTGAACCTGTTTCTGGCCTTGCTCCTGAGCTCCTTCAGTGCAGACAACCTGGCTGCCACAGATGACGATGGGGAAATGAACAACCTCCAGATCTCAGTGATCCGTATCAAGAAGGGTGTGGCCTGGACCAAACTAAAGGTGCACGCCTTCATGCAGGCCCACTTTAAGCAGCGTGAGGCTGATGAGGTGAAGCCTCTGGATGAGTTGTATGAAAAGAAGGCCAACTGTATCGCCAATCACACCGGTGCAGACATCCACCGGAATGGTGACTTCCAGAAGAATGGCAATGGCACAACCAGCGGCATTGGCAGCAGCGTGGAGAAGTACATCATTGATGAGGACCACATGTCCTTCATCAACAACCCCAACTTGACTGTACGGGTACCCATTGCTGTGGGCGAGTCTGACTTTGAGAACCTCAACACAGAGGATGTTAGCAGCGAGTCGGATCCTGAAGGCAGCAAAGAT
Seq A exon
AAACTAGATGACACCAGCTCCTCTGAAGGAAGCACCATTGATATCAAACCAGAAGTAGAAGAGGTCCCTGTGGAACAGCCTGAGGAATACTTGGATCCAGATGCCTGCTTCACAGAAG
Seq C2 exon
GTTGTGTCCAGCGGTTCAAGTGCTGCCAGGTCAACATCGAGGAAGGGCTAGGCAAGTCTTGGTGGATCCTGCGGAAAACCTGCTTCCTCATCGTGGAGCACAACTGGTTTGAGACCTTCATCATCTTCATGATTCTGCTGAGCAGTGGCGCCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196876-'22-24,'22-23,23-24=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=0.223 A=0.575 C2=0.000
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=PD(4.2=5.1),PF065128=Na_trans_assoc=PU(61.0=84.7)
A:
PF065128=Na_trans_assoc=FE(17.9=100)
C2:
PF065128=Na_trans_assoc=PD(20.2=84.6)
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:
AATCACACCGGTGCAGACATC
R:
CACTTGAACCGCTGGACACAA
Band lengths:
256-374
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)