HsaEX0056579 @ hg38
Exon Skipping
Gene
ENSG00000169432 | SCN9A
Description
sodium voltage-gated channel alpha subunit 9 [Source:HGNC Symbol;Acc:HGNC:10597]
Coordinates
chr2:166294599-166303302:-
Coord C1 exon
chr2:166303090-166303302
Coord A exon
chr2:166302092-166302300
Coord C2 exon
chr2:166294599-166294662
Length
209 bp
Sequences
Splice sites
3' ss Seq
TCTAAACAATTATCCCCTAGCAT
3' ss Score
4.69
5' ss Seq
AAGGTCAGG
5' ss Score
6.23
Exon sequences
Seq C1 exon
GCCTGAAGACAATTGTAGGGGCTTTGATCCAGTCAGTGAAGAAGCTTTCTGATGTCATGATCCTGACTGTGTTCTGTCTGAGTGTGTTTGCACTAATTGGACTACAGCTGTTCATGGGAAACCTGAAGCATAAATGTTTTCGAAATTCACTTGAAAATAATGAAACATTAGAAAGCATAATGAATACCCTAGAGAGTGAAGAAGACTTTAGAA
Seq A exon
CATGGTGTCTCTCACTGGAACGGTTGATGAATATTGGATGAAGATATGATCAAGATTGTACTTTCTGTCTGACACCTGGAATGTATCTATCTGATGGTGCCCACGTGAATACATAAATCTTAATAGATAATTTGACCCAGGTGTGGTATGGAAGTCACGAAACCTTTCAAATATATGTGCTGTTGCCAAAAGGAAATGAGGGAGGAAAG
Seq C2 exon
AATATTTTTATTACTTGGAAGGATCCAAAGATGCTCTCCTTTGTGGTTTCAGCACAGATTCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169432_MULTIEX2-7/9=6-8
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(28.6=100)
A:
PF0052026=Ion_trans=PD(4.5=50.0)
C2:
PF0052026=Ion_trans=FE(8.5=100)
Main Inclusion Isoform:
ENST00000303354fB6142
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTGAAGACAATTGTAGGGGC
R:
CCTGAATCTGTGCTGAAACCAC
Band lengths:
277-486
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Autistic and control brains
- Pre-implantation embryo development