HsaEX6016366 @ hg38
Exon Skipping
Gene
ENSG00000136531 | SCN2A
Description
sodium voltage-gated channel alpha subunit 2 [Source:HGNC Symbol;Acc:HGNC:10588]
Coordinates
chr2:165295773-165307937:+
Coord C1 exon
chr2:165295773-165296090
Coord A exon
chr2:165297017-165297135
Coord C2 exon
chr2:165307848-165307937
Length
119 bp
Sequences
Splice sites
3' ss Seq
TGTTGTGTTTTCTTTTTCAGACG
3' ss Score
12.15
5' ss Seq
TTCATATCC
5' ss Score
-14.87
Exon sequences
Seq C1 exon
CACTTTCTTATGCAAGGAGCTAAACAGTGATTAAAGGAGCAGGATGAAAAGATGGCACAGTCAGTGCTGGTACCGCCAGGACCTGACAGCTTCCGCTTCTTTACCAGGGAATCCCTTGCTGCTATTGAACAACGCATTGCAGAAGAGAAAGCTAAGAGACCCAAACAGGAACGCAAGGATGAGGATGATGAAAATGGCCCAAAGCCAAACAGTGACTTGGAAGCAGGAAAATCTCTTCCATTTATTTATGGAGACATTCCTCCAGAGATGGTGTCAGTGCCCCTGGAGGATCTGGACCCCTACTATATCAATAAGAAA
Seq A exon
ACGTTTATAGTATTGAATAAAGGGAAAGCAATCTCTCGATTCAGTGCCACCCCTGCCCTTTACATTTTAACTCCCTTCAACCCTATTAGAAAATTAGCTATTAAGATTTTGGTACATTC
Seq C2 exon
TTTATTCAATATGCTCATTATGTGCACGATTCTTACCAACTGTGTATTTATGACCATGAGTAACCCTCCAGACTGGACAAAGAATGTGGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136531-'15-22,'15-21,18-22=AN
Average complexity
A_S
Mappability confidence:
90%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.348 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0052026=Ion_trans=PU(12.8=92.5)
C2:
PF0052026=Ion_trans=FE(10.3=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGACCCAAACAGGAACGCAA
R:
CCACATTCTTTGTCCAGTCTGGA
Band lengths:
252-371
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains