HsaEX6016340 @ hg38
Exon Skipping
Gene
ENSG00000153253 | SCN3A
Description
sodium voltage-gated channel alpha subunit 3 [Source:HGNC Symbol;Acc:HGNC:10590]
Coordinates
chr2:165131244-165139608:-
Coord C1 exon
chr2:165139476-165139608
Coord A exon
chr2:165137879-165138117
Coord C2 exon
chr2:165131244-165131417
Length
239 bp
Sequences
Splice sites
3' ss Seq
CCTTGTTATTGTCCCTCCAGAAC
3' ss Score
10.04
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
Exon sequences
Seq C1 exon
GGCACCACCACAGAAACGGAAGTCAGAAAGAGAAGGTTAAGCTCTTACCAGATTTCAATGGAGATGCTGGAGGATTCCTCTGGAAGGCAAAGAGCCGTGAGCATAGCCAGCATTCTGACCAACACAATGGAAG
Seq A exon
AACTTGAAGAATCTAGACAGAAATGTCCGCCATGCTGGTATAGATTTGCCAATGTGTTCTTGATCTGGGACTGCTGTGATGCATGGTTAAAAGTAAAACATCTTGTGAATTTAATTGTTATGGATCCATTTGTTGATCTTGCCATCACTATTTGCATTGTCTTAAATACCCTCTTTATGGCCATGGAGCACTACCCCATGACTGAGCAATTCAGTAGTGTGTTGACTGTAGGAAACCTG
Seq C2 exon
GTCTTTACTGGGATTTTCACAGCAGAAATGGTTCTCAAGATCATTGCCATGGATCCTTATTACTATTTCCAAGAAGGCTGGAATATCTTTGATGGAATTATTGTCAGCCTCAGTTTAATGGAGCTTGGTCTGTCAAATGTGGAGGGATTGTCTGTACTGCGATCATTCAGACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000153253-'13-34,'13-26,24-34=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.222 A=0.003 C2=0.000
Domain overlap (PFAM):
C1:
PF119333=DUF3451=PD(16.4=82.2)
A:
PF119333=DUF3451=PD(5.3=15.0),PF0052026=Ion_trans=PU(1.6=3.8)
C2:
PF0052026=Ion_trans=FE(30.0=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CAAAACCAGCTAATGAAATGGTTGA
R:
TCAGTAAAACAAGCTTCCGGT
Band lengths:
220-459
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains