HsaEX0056586 @ hg38
Exon Skipping
Gene
ENSG00000169432 | SCN9A
Description
sodium voltage-gated channel alpha subunit 9 [Source:HGNC Symbol;Acc:HGNC:10597]
Coordinates
chr2:166288437-166311806:-
Coord C1 exon
chr2:166311499-166311806
Coord A exon
chr2:166306956-166307074
Coord C2 exon
chr2:166288437-166288643
Length
119 bp
Sequences
Splice sites
3' ss Seq
CTTTCTTTTTCCTCCTGCAGACT
3' ss Score
12.64
5' ss Seq
CTCATATCC
5' ss Score
-13.36
Exon sequences
Seq C1 exon
GCCTCTTATGTGAGGAGCTGAAGAGGAATTAAAATATACAGGATGAAAAGATGGCAATGTTGCCTCCCCCAGGACCTCAGAGCTTTGTCCATTTCACAAAACAGTCTCTTGCCCTCATTGAACAACGCATTGCTGAAAGAAAATCAAAGGAACCCAAAGAAGAAAAGAAAGATGATGATGAAGAAGCCCCAAAGCCAAGCAGTGACTTGGAAGCTGGCAAACAGCTGCCCTTCATCTATGGGGACATTCCTCCCGGCATGGTGTCAGAGCCCCTGGAGGACTTGGACCCCTACTATGCAGACAAAAAG
Seq A exon
ACTTTCATAGTATTGAACAAAGGGAAAACAATCTTCCGTTTCAATGCCACACCTGCTTTATATATGCTTTCTCCTTTCAGTCCTCTAAGAAGAATATCTATTAAGATTTTAGTACACTC
Seq C2 exon
ACGCTGCGTGCTGCTGGCAAAACCTACATGATCTTCTTTGTCGTAGTGATTTTCCTGGGCTCCTTTTATCTAATAAACTTGATCCTGGCTGTGGTTGCCATGGCATATGAAGAACAGAACCAGGCAAACATTGAAGAAGCTAAACAGAAAGAATTAGAATTTCAACAGATGTTAGACCGTCTTAAAAAAGAGCAAGAAGAAGCTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169432_MULTIEX2-1/9=C1-C2
Average complexity
C2*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.384 A=0.000 C2=0.014
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0052026=Ion_trans=PD(12.5=44.9),PF0253517=Zip=FE(38.0=100)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGTGACTTGGAAGCTGGCAA
R:
GCTTCTTCAATGTTTGCCTGGT
Band lengths:
249-368
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development