HsaEX1036202 @ hg38
Exon Skipping
Gene
ENSG00000136531 | SCN2A
Description
sodium voltage-gated channel alpha subunit 2 [Source:HGNC Symbol;Acc:HGNC:10588]
Coordinates
chr2:165354192-165365263:+
Coord C1 exon
chr2:165354192-165354671
Coord A exon
chr2:165357774-165357857
Coord C2 exon
chr2:165365143-165365263
Length
84 bp
Sequences
Splice sites
3' ss Seq
ACCATTCTTACTTCTCACAGGAG
3' ss Score
8.05
5' ss Seq
CAGGTTACC
5' ss Score
-1.62
Exon sequences
Seq C1 exon
GTTCTGAACCTCTTCTTGGCCTTGCTTTTGAGTTCCTTCAGTTCTGACAATCTTGCTGCCACTGATGATGATAACGAAATGAATAATCTCCAGATTGCTGTGGGAAGGATGCAGAAAGGAATCGATTTTGTTAAAAGAAAAATACGTGAATTTATTCAGAAAGCCTTTGTTAGGAAGCAGAAAGCTTTAGATGAAATTAAACCGCTTGAAGATCTAAATAATAAAAAAGACAGCTGTATTTCCAACCATACCACCATAGAAATAGGCAAAGACCTCAATTATCTCAAAGACGGAAATGGAACTACTAGTGGCATAGGCAGCAGTGTAGAAAAATATGTCGTGGATGAAAGTGATTACATGTCATTTATAAACAACCCTAGCCTCACTGTGACAGTACCAATTGCTGTTGGAGAATCTGACTTTGAAAATTTAAATACTGAAGAATTCAGCAGCGAGTCAGATATGGAGGAAAGCAAAGAG
Seq A exon
GAGTAAAATCAAGCTGGAGCCATCAAGAATGCAGCTCTGGTGTTTTTTAACCAGCCAGAGGCTCGTGCCACCACTTTTACCCAG
Seq C2 exon
AAGCTAAATGCAACTAGTTCATCTGAAGGCAGCACGGTTGATATTGGAGCTCCCGCCGAGGGAGAACAGCCTGAGGTTGAACCTGAGGAATCCCTTGAACCTGAAGCCTGTTTTACAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136531-'45-45,'45-44,46-45
Average complexity
S
Mappability confidence:
100%=75=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.121 A=1.000 C2=0.799
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=PD(4.2=5.0),PF065128=Na_trans_assoc=PU(61.3=85.0)
A:
PF065128=Na_trans_assoc=PD(0.1=0.0)
C2:
PF065128=Na_trans_assoc=FE(18.0=100)
Main Inclusion Isoform:
ENST00000636071fB25252
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
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:
AGCCTCACTGTGACAGTACCA
R:
AACCTCAGGCTGTTCTCCCTC
Band lengths:
180-264
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains