HsaEX6016338 @ hg38
Exon Skipping
Gene
ENSG00000153253 | SCN3A
Description
sodium voltage-gated channel alpha subunit 3 [Source:HGNC Symbol;Acc:HGNC:10590]
Coordinates
chr2:165139476-165147029:-
Coord C1 exon
chr2:165146739-165147029
Coord A exon
chr2:165140651-165140998
Coord C2 exon
chr2:165139476-165139608
Length
348 bp
Sequences
Splice sites
3' ss Seq
CCTTTTTGCTTTCTCTGCAGTCT
3' ss Score
10.04
5' ss Seq
GAGGTGATA
5' ss Score
3.13
Exon sequences
Seq C1 exon
GCAGTTGCGGCAGCATCAGCTGCTTCAAGAGATTTCAGTGGAATAGGTGGGTTAGGAGAGCTGTTGGAAAGTTCTTCAGAAGCATCAAAGTTGAGTTCCAAAAGTGCTAAAGAATGGAGGAACCGAAGGAAGAAAAGAAGACAGAGAGAGCACCTTGAAGGAAACAACAAAGGAGAGAGAGACAGCTTTCCCAAATCCGAATCTGAAGACAGCGTCAAAAGAAGCAGCTTCCTTTTCTCCATGGATGGAAACAGACTGACCAGTGACAAAAAATTCTGCTCCCCTCATCAG
Seq A exon
TCTCTCTTGAGTATCCGTGGCTCCCTGTTTTCCCCAAGACGCAATAGCAAAACAAGCATTTTCAGTTTCAGAGGTCGGGCAAAGGATGTTGGATCTGAAAATGACTTTGCTGATGATGAACACAGCACATTTGAAGACAGCGAAAGCAGGAGAGACTCACTGTTTGTGCCGCACAGACATGGAGAGCGACGCAACAGTAACGTTAGTCAGGCCAGTATGTCATCCAGGATGGTGCCAGGGCTTCCAGCAAATGGGAAGATGCACAGCACTGTGGATTGCAATGGTGTGGTTTCCTTGGTGGGTGGACCTTCAGCTCTAACGTCACCTACTGGACAACTTCCCCCAGAG
Seq C2 exon
GGCACCACCACAGAAACGGAAGTCAGAAAGAGAAGGTTAAGCTCTTACCAGATTTCAATGGAGATGCTGGAGGATTCCTCTGGAAGGCAAAGAGCCGTGAGCATAGCCAGCATTCTGACCAACACAATGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000153253-'16-25,'16-23,21-25
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.433 A=0.642 C2=0.222
Domain overlap (PFAM):
C1:
PF119333=DUF3451=PU(31.4=73.2)
A:
PF119333=DUF3451=FE(50.9=100)
C2:
PF119333=DUF3451=PD(16.4=82.2)
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:
AGGTGGGTTAGGAGAGCTGTT
R:
GGCTATGCTCACGGCTCTTTG
Band lengths:
355-703
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains