HsaEX0056542 @ hg38
Exon Skipping
Gene
ENSG00000136531 | SCN2A
Description
sodium voltage-gated channel alpha subunit 2 [Source:HGNC Symbol;Acc:HGNC:10588]
Coordinates
chr2:165326852-165331568:+
Coord C1 exon
chr2:165326852-165326984
Coord A exon
chr2:165328404-165328538
Coord C2 exon
chr2:165331330-165331568
Length
135 bp
Sequences
Splice sites
3' ss Seq
GCTCCTCCCTGTCCCTCCAGGTA
3' ss Score
12.7
5' ss Seq
AGGGTAAGT
5' ss Score
10.45
Exon sequences
Seq C1 exon
GGCACAACTACTGAAACAGAAATAAGAAAGAGACGGTCCAGTTCTTATCATGTTTCCATGGATTTATTGGAAGATCCTACATCAAGGCAAAGAGCAATGAGTATAGCCAGTATTTTGACCAACACCATGGAAG
Seq A exon
GTAAATCTTTTGAAGATTGTCTGGCCTTCCGCTCCTTGCCATAGCAAAACCACTGAGAGGAAGCTGCCAGTGGTTCTGCTACCGATGTCAGCAGCATGTCTGCTCCCTAAAGCAGGAAGTAGAGAAGGAGACAGG
Seq C2 exon
AACTTGAAGAATCCAGACAGAAATGCCCACCATGCTGGTATAAATTTGCTAATATGTGTTTGATTTGGGACTGTTGTAAACCATGGTTAAAGGTGAAACACCTTGTCAACCTGGTTGTAATGGACCCATTTGTTGACCTGGCCATCACCATCTGCATTGTCTTAAATACACTCTTCATGGCTATGGAGCACTATCCCATGACGGAGCAGTTCAGCAGTGTACTGTCTGTTGGAAACCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136531_CASSETTE3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.333 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF119333=DUF3451=PD(16.6=82.2)
A:
NO
C2:
PF0052026=Ion_trans=PU(1.6=3.8)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCCAGTATTTTGACCAACACCA
R:
GTACACTGCTGAACTGCTCCG
Band lengths:
251-386
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development