HsaEX6016337 @ hg19
Exon Skipping
Gene
ENSG00000153253 | SCN3A
Description
sodium channel, voltage-gated, type III, alpha subunit [Source:HGNC Symbol;Acc:10590]
Coordinates
chr2:165997161-166011168:-
Coord C1 exon
chr2:166010962-166011168
Coord A exon
chr2:166003249-166003539
Coord C2 exon
chr2:165997161-165997508
Length
291 bp
Sequences
Splice sites
3' ss Seq
CTGGCTTTGTTTTATGACAGGCA
3' ss Score
6.97
5' ss Seq
CAGGTATGA
5' ss Score
9.46
Exon sequences
Seq C1 exon
ACATTACGTGCTGCTGGGAAAACATACATGATATTTTTTGTCCTGGTCATTTTCTTGGGCTCATTTTATTTGGTGAATTTGATCCTGGCTGTGGTGGCCATGGCCTATGAGGAGCAGAATCAGGCCACCTTGGAAGAAGCAGAACAAAAAGAGGCCGAATTTCAGCAGATGCTCGAACAGCTTAAAAAGCAACAGGAAGAAGCTCAG
Seq A exon
GCAGTTGCGGCAGCATCAGCTGCTTCAAGAGATTTCAGTGGAATAGGTGGGTTAGGAGAGCTGTTGGAAAGTTCTTCAGAAGCATCAAAGTTGAGTTCCAAAAGTGCTAAAGAATGGAGGAACCGAAGGAAGAAAAGAAGACAGAGAGAGCACCTTGAAGGAAACAACAAAGGAGAGAGAGACAGCTTTCCCAAATCCGAATCTGAAGACAGCGTCAAAAGAAGCAGCTTCCTTTTCTCCATGGATGGAAACAGACTGACCAGTGACAAAAAATTCTGCTCCCCTCATCAG
Seq C2 exon
TCTCTCTTGAGTATCCGTGGCTCCCTGTTTTCCCCAAGACGCAATAGCAAAACAAGCATTTTCAGTTTCAGAGGTCGGGCAAAGGATGTTGGATCTGAAAATGACTTTGCTGATGATGAACACAGCACATTTGAAGACAGCGAAAGCAGGAGAGACTCACTGTTTGTGCCGCACAGACATGGAGAGCGACGCAACAGTAACGTTAGTCAGGCCAGTATGTCATCCAGGATGGTGCCAGGGCTTCCAGCAAATGGGAAGATGCACAGCACTGTGGATTGCAATGGTGTGGTTTCCTTGGTGGGTGGACCTTCAGCTCTAACGTCACCTACTGGACAACTTCCCCCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000153253-'13-14,'13-13,14-14=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.101 A=0.433 C2=0.634
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=PD(11.6=44.9)
A:
PF119333=DUF3451=PU(31.4=73.2)
C2:
PF119333=DUF3451=FE(50.9=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TTACGTGCTGCTGGGAAAACA
R:
ATCCAACATCCTTTGCCCGAC
Band lengths:
298-589
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)