HsaEX6016361 @ hg38
Exon Skipping
Gene
ENSG00000136531 | SCN2A
Description
sodium voltage-gated channel alpha subunit 2 [Source:HGNC Symbol;Acc:HGNC:10588]
Coordinates
chr2:165313620-165315758:+
Coord C1 exon
chr2:165313620-165313761
Coord A exon
chr2:165313902-165314108
Coord C2 exon
chr2:165315471-165315758
Length
207 bp
Sequences
Splice sites
3' ss Seq
ATCTCTCTTCCATTTTGCAGACA
3' ss Score
10.12
5' ss Seq
CAGGTATAG
5' ss Score
8.73
Exon sequences
Seq C1 exon
CCAGTGTCCTGAAGGATACATCTGTGTGAAGGCTGGTAGAAACCCCAACTATGGCTACACGAGCTTTGACACCTTTAGTTGGGCCTTTTTGTCCTTATTTCGTCTCATGACTCAAGACTTCTGGGAAAACCTTTATCAACTG
Seq A exon
ACACTACGTGCTGCTGGGAAAACGTACATGATATTTTTTGTGCTGGTCATTTTCTTGGGCTCATTCTATCTAATAAATTTGATCTTGGCTGTGGTGGCCATGGCCTATGAGGAACAGAATCAGGCCACATTGGAAGAGGCTGAACAGAAGGAAGCTGAATTTCAGCAGATGCTCGAACAGTTGAAAAAGCAACAAGAAGAAGCTCAG
Seq C2 exon
GCGGCAGCTGCAGCCGCATCTGCTGAATCAAGAGACTTCAGTGGTGCTGGTGGGATAGGAGTTTTTTCAGAGAGTTCTTCAGTAGCATCTAAGTTGAGCTCCAAAAGTGAAAAAGAGCTGAAAAACAGAAGAAAGAAAAAGAAACAGAAAGAACAGTCTGGAGAAGAAGAGAAAAATGACAGAGTCCGAAAATCGGAATCTGAAGACAGCATAAGAAGAAAAGGTTTCCGTTTTTCCTTGGAAGGAAGTAGGCTGACATATGAAAAGAGATTTTCTTCTCCACACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136531-'26-32,'26-31,27-32=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.057 C2=0.412
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(16.2=100),PF0253517=Zip=PU(12.4=43.8)
A:
PF0052026=Ion_trans=PD(10.7=44.9),PF0253517=Zip=FE(40.2=100),PF0043013=ATP-synt_B=PU(79.5=89.9)
C2:
PF0253517=Zip=PD(45.6=80.2),PF0043013=ATP-synt_B=PD(17.9=14.6),PF119333=DUF3451=PU(85.2=71.9)

Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAAGGCTGGTAGAAACCCCA
R:
TCGGACTCTGTCATTTTTCTCT
Band lengths:
305-512
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains