HsaEX6016359 @ hg38
Exon Skipping
Gene
ENSG00000136531 | SCN2A
Description
sodium voltage-gated channel alpha subunit 2 [Source:HGNC Symbol;Acc:HGNC:10588]
Coordinates
chr2:165315471-165326984:+
Coord C1 exon
chr2:165315471-165315758
Coord A exon
chr2:165323156-165323500
Coord C2 exon
chr2:165326852-165326984
Length
345 bp
Sequences
Splice sites
3' ss Seq
TCTTCTCTTGTTATTCATAGTCC
3' ss Score
7.56
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
Exon sequences
Seq C1 exon
GCGGCAGCTGCAGCCGCATCTGCTGAATCAAGAGACTTCAGTGGTGCTGGTGGGATAGGAGTTTTTTCAGAGAGTTCTTCAGTAGCATCTAAGTTGAGCTCCAAAAGTGAAAAAGAGCTGAAAAACAGAAGAAAGAAAAAGAAACAGAAAGAACAGTCTGGAGAAGAAGAGAAAAATGACAGAGTCCGAAAATCGGAATCTGAAGACAGCATAAGAAGAAAAGGTTTCCGTTTTTCCTTGGAAGGAAGTAGGCTGACATATGAAAAGAGATTTTCTTCTCCACACCAG
Seq A exon
TCCTTACTGAGCATCCGTGGCTCCCTTTTCTCTCCAAGACGCAACAGTAGGGCGAGCCTTTTCAGCTTCAGAGGTCGAGCAAAGGACATTGGCTCTGAGAATGACTTTGCTGATGATGAGCACAGCACCTTTGAGGACAATGACAGCCGAAGAGACTCTCTGTTCGTGCCGCACAGACATGGAGAACGGCGCCACAGCAATGTCAGCCAGGCCAGCCGTGCCTCCAGGGTGCTCCCCATCCTGCCCATGAATGGGAAGATGCATAGCGCTGTGGACTGCAATGGTGTGGTCTCCCTGGTCGGGGGCCCTTCTACCCTCACATCTGCTGGGCAGCTCCTACCAGAG
Seq C2 exon
GGCACAACTACTGAAACAGAAATAAGAAAGAGACGGTCCAGTTCTTATCATGTTTCCATGGATTTATTGGAAGATCCTACATCAAGGCAAAGAGCAATGAGTATAGCCAGTATTTTGACCAACACCATGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136531-'29-35,'29-34,32-35
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.412 A=0.534 C2=0.333
Domain overlap (PFAM):
C1:
PF0253517=Zip=PD(45.6=80.2),PF0043013=ATP-synt_B=PD(17.9=14.6),PF119333=DUF3451=PU(85.2=71.9)
A:
PF119333=DUF3451=FE(51.1=100)
C2:
PF119333=DUF3451=PD(16.6=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:
AGAGACTTCAGTGGTGCTGGT
R:
TGCTCTTTGCCTTGATGTAGGA
Band lengths:
354-699
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains