HsaEX6016336 @ hg38
Exon Skipping
Gene
ENSG00000153253 | SCN3A
Description
sodium voltage-gated channel alpha subunit 3 [Source:HGNC Symbol;Acc:HGNC:10590]
Coordinates
chr2:165146739-165155903:-
Coord C1 exon
chr2:165155762-165155903
Coord A exon
chr2:165154452-165154658
Coord C2 exon
chr2:165146739-165147029
Length
207 bp
Sequences
Splice sites
3' ss Seq
TTATCCCCCATTTCCCCTAGACA
3' ss Score
8.91
5' ss Seq
CAGGTACTG
5' ss Score
9.04
Exon sequences
Seq C1 exon
CCAGTGTCCAGAAGGATACATCTGTGTGAAGGCTGGTCGAAACCCCAACTATGGCTACACAAGCTTTGACACCTTTAGCTGGGCTTTCCTGTCTCTATTTCGACTCATGACTCAAGACTACTGGGAAAATCTTTACCAGTTG
Seq A exon
ACATTACGTGCTGCTGGGAAAACATACATGATATTTTTTGTCCTGGTCATTTTCTTGGGCTCATTTTATTTGGTGAATTTGATCCTGGCTGTGGTGGCCATGGCCTATGAGGAGCAGAATCAGGCCACCTTGGAAGAAGCAGAACAAAAAGAGGCCGAATTTCAGCAGATGCTCGAACAGCTTAAAAAGCAACAGGAAGAAGCTCAG
Seq C2 exon
GCAGTTGCGGCAGCATCAGCTGCTTCAAGAGATTTCAGTGGAATAGGTGGGTTAGGAGAGCTGTTGGAAAGTTCTTCAGAAGCATCAAAGTTGAGTTCCAAAAGTGCTAAAGAATGGAGGAACCGAAGGAAGAAAAGAAGACAGAGAGAGCACCTTGAAGGAAACAACAAAGGAGAGAGAGACAGCTTTCCCAAATCCGAATCTGAAGACAGCGTCAAAAGAAGCAGCTTCCTTTTCTCCATGGATGGAAACAGACTGACCAGTGACAAAAAATTCTGCTCCCCTCATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000153253-'14-21,'14-20,15-21
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.101 C2=0.433
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(17.5=100)
A:
PF0052026=Ion_trans=PD(11.6=44.9)
C2:
PF119333=DUF3451=PU(31.4=73.2)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCTGGGCTTTCCTGTCTCTA
R:
AGCTGCTTCTTTTGACGCTGT
Band lengths:
295-502
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains