HsaEX6016335 @ hg38
Exon Skipping
Gene
ENSG00000153253 | SCN3A
Description
sodium voltage-gated channel alpha subunit 3 [Source:HGNC Symbol;Acc:HGNC:10590]
Coordinates
chr2:165137879-165162371:-
Coord C1 exon
chr2:165162308-165162371
Coord A exon
chr2:165155762-165155903
Coord C2 exon
chr2:165137879-165138117
Length
142 bp
Sequences
Splice sites
3' ss Seq
TCCATTTCTCTCTCTTATAGCCA
3' ss Score
10.75
5' ss Seq
TTGGTAAGG
5' ss Score
8.92
Exon sequences
Seq C1 exon
GTCACTTTTATGTTTTGGATGGGCAAAAAGACCCTTTACTCTGTGGAAATGGCTCAGATGCAGG
Seq A exon
CCAGTGTCCAGAAGGATACATCTGTGTGAAGGCTGGTCGAAACCCCAACTATGGCTACACAAGCTTTGACACCTTTAGCTGGGCTTTCCTGTCTCTATTTCGACTCATGACTCAAGACTACTGGGAAAATCTTTACCAGTTG
Seq C2 exon
AACTTGAAGAATCTAGACAGAAATGTCCGCCATGCTGGTATAGATTTGCCAATGTGTTCTTGATCTGGGACTGCTGTGATGCATGGTTAAAAGTAAAACATCTTGTGAATTTAATTGTTATGGATCCATTTGTTGATCTTGCCATCACTATTTGCATTGTCTTAAATACCCTCTTTATGGCCATGGAGCACTACCCCATGACTGAGCAATTCAGTAGTGTGTTGACTGTAGGAAACCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000153253-'12-26,'12-18,14-26=AN
Average complexity
A_C3
Mappability confidence:
100%=60=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.003
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(7.8=100)
A:
PF0052026=Ion_trans=FE(17.5=100)
C2:
PF119333=DUF3451=PD(5.3=15.0),PF0052026=Ion_trans=PU(1.6=3.8)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCCTTTACTCTGTGGAAATGGC
R:
TGCTCAGTCATGGGGTAGTGC
Band lengths:
242-384
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains