Special

HsaEX0056593 @ hg38

Exon Skipping

Gene
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
chr2:166293231-166293372
Coord C2 exon
chr2:166288437-166288643
Length
142 bp
Sequences
Splice sites
3' ss Seq
ATGTTCTTTCTCGTGTGTAGTCA
3' ss Score
8.19
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
GCCTCTTATGTGAGGAGCTGAAGAGGAATTAAAATATACAGGATGAAAAGATGGCAATGTTGCCTCCCCCAGGACCTCAGAGCTTTGTCCATTTCACAAAACAGTCTCTTGCCCTCATTGAACAACGCATTGCTGAAAGAAAATCAAAGGAACCCAAAGAAGAAAAGAAAGATGATGATGAAGAAGCCCCAAAGCCAAGCAGTGACTTGGAAGCTGGCAAACAGCTGCCCTTCATCTATGGGGACATTCCTCCCGGCATGGTGTCAGAGCCCCTGGAGGACTTGGACCCCTACTATGCAGACAAAAAG
Seq A exon
TCAGTGTCCAGAGGGGTACACCTGTGTGAAAATTGGCAGAAACCCTGATTATGGCTACACGAGCTTTGACACTTTCAGCTGGGCCTTCTTAGCCTTGTTTAGGCTAATGACCCAAGATTACTGGGAAAACCTTTACCAACAG
Seq C2 exon
ACGCTGCGTGCTGCTGGCAAAACCTACATGATCTTCTTTGTCGTAGTGATTTTCCTGGGCTCCTTTTATCTAATAAACTTGATCCTGGCTGTGGTTGCCATGGCATATGAAGAACAGAACCAGGCAAACATTGAAGAAGCTAAACAGAAAGAATTAGAATTTCAACAGATGTTAGACCGTCTTAAAAAAGAGCAAGAAGAAGCTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169432_MULTIEX2-9/9=C1-C2
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.384 A=0.000 C2=0.014
Domain overlap (PFAM):

C1:
NO
A:
PF0052026=Ion_trans=FE(19.0=100),PF0253517=Zip=PU(11.2=41.7)
C2:
PF0052026=Ion_trans=PD(12.5=44.9),PF0253517=Zip=FE(38.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000303354fB6142


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
([1])
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGTGACTTGGAAGCTGGCAA
R:
GCTTCTTCAATGTTTGCCTGGT
Band lengths:
249-391
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development