HsaEX7001522 @ hg38
Exon Skipping
Gene
ENSG00000136531 | SCN2A
Description
sodium voltage-gated channel alpha subunit 2 [Source:HGNC Symbol;Acc:HGNC:10588]
Coordinates
chr2:165380592-165387016:+
Coord C1 exon
chr2:165380592-165380729
Coord A exon
chr2:165381093-165381197
Coord C2 exon
chr2:165386746-165387016
Length
105 bp
Sequences
Splice sites
3' ss Seq
TGTTGCTTTCATTTCTTTACTTT
3' ss Score
0.77
5' ss Seq
GCTGTAAGA
5' ss Score
4.19
Exon sequences
Seq C1 exon
GTAGAATTACAACCCAAGTATGAAGACAACCTGTACATGTATCTTTATTTTGTCATCTTTATTATTTTTGGTTCATTCTTTACCTTGAATCTTTTCATTGGTGTCATCATAGATAACTTCAACCAACAGAAAAAGAAG
Seq A exon
TTTGGAGGTCAAGACATTTTTATGACAGAAGAACAGAAGAAATACTACAATGCAATGAAAAAACTGGGTTCAAAGAAACCACAAAAACCCATACCTCGACCTGCT
Seq C2 exon
AACAAATTCCAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTCATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACAAACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTGAAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTGGTGGTCATTCTCTCCATTGTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136531-'55-57,'55-56,56-57=AN
Average complexity
A_S
Mappability confidence:
83%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=PD(15.3=76.1)
A:
NO
C2:
PF0052026=Ion_trans=PU(20.4=47.3)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCCAAGTATGAAGACAACCTGT
R:
CTCTGGTCATCGGTTTCCACC
Band lengths:
243-348
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains