HsaEX6016422 @ hg38
Exon Skipping
Gene
ENSG00000169432 | SCN9A
Description
sodium voltage-gated channel alpha subunit 9 [Source:HGNC Symbol;Acc:HGNC:10597]
Coordinates
chr2:166233340-166242656:-
Coord C1 exon
chr2:166242502-166242656
Coord A exon
chr2:166238094-166238267
Coord C2 exon
chr2:166233340-166233462
Length
174 bp
Sequences
Splice sites
3' ss Seq
CTTGAATATTATTTCCACAGGCT
3' ss Score
6.44
5' ss Seq
GATGTAGGT
5' ss Score
4.9
Exon sequences
Seq C1 exon
GTTGTGTATGGAGGTTCTCATGCTGCCAAGTTAACATAGAGTCAGGGAAAGGAAAAATCTGGTGGAACATCAGGAAAACCTGCTACAAGATTGTTGAACACAGTTGGTTTGAAAGCTTCATTGTCCTCATGATCCTGCTCAGCAGTGGTGCCCTG
Seq A exon
GCTTTTGAAGATATTTATATTGAAAGGAAAAAGACCATTAAGATTATCCTGGAGTATGCAGACAAGATCTTCACTTACATCTTCATTCTGGAAATGCTTCTAAAATGGATAGCATATGGTTATAAAACATATTTCACCAATGCCTGGTGTTGGCTGGATTTCCTAATTGTTGAT
Seq C2 exon
GTTTCTTTGGTTACTTTAGTGGCAAACACTCTTGGCTACTCAGATCTTGGCCCCATTAAATCCCTTCGGACACTGAGAGCTTTAAGACCTCTAAGAGCCTTATCTAGATTTGAAGGAATGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169432-'37-46,'37-44,39-46=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=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF065128=Na_trans_assoc=PD(19.9=84.6)
A:
PF0052026=Ion_trans=PU(17.0=67.2)
C2:
PF0052026=Ion_trans=FE(17.5=100)
Main Skipping Isoform:
ENST00000303354fB6143
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAGGTTCTCATGCTGCCAAG
R:
AGGCTCTTAGAGGTCTTAAAGCT
Band lengths:
246-420
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains