HsaEX6016337 @ hg38
Exon Skipping
Gene
ENSG00000153253 | SCN3A
Description
sodium voltage-gated channel alpha subunit 3 [Source:HGNC Symbol;Acc:HGNC:10590]
Coordinates
chr2:165140651-165154658:-
Coord C1 exon
chr2:165154452-165154658
Coord A exon
chr2:165146739-165147029
Coord C2 exon
chr2:165140651-165140998
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-'13-26,'13-21,16-26=AN
Average complexity
A_C3
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=0.642
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 Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TGAAATGGTTGATTCCCCACTCT
R:
TCAGTCATGGGGTAGTGCTCC
Band lengths:
293-584
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains