Special

HsaEX6055160 @ hg19

Exon Skipping

Gene
ENSG00000185313 | SCN10A
Description
sodium channel, voltage-gated, type X, alpha subunit [Source:HGNC Symbol;Acc:10582]
Coordinates
chr3:38830447-38835501:-
Coord C1 exon
chr3:38835232-38835501
Coord A exon
chr3:38833541-38833659
Coord C2 exon
chr3:38830447-38830527
Length
119 bp
Sequences
Splice sites
3' ss Seq
TCTGTTTTGTTTTGTTTCAGACA
3' ss Score
10.9
5' ss Seq
CTCATATCC
5' ss Score
-13.36
Exon sequences
Seq C1 exon
ATGGAATTCCCCATTGGATCCCTCGAAACTAACAACTTCCGTCGCTTTACTCCGGAGTCACTGGTGGAGATAGAGAAGCAAATTGCTGCCAAGCAGGGAACAAAGAAAGCCAGAGAGAAGCATAGGGAGCAGAAGGACCAAGAAGAGAAGCCTCGGCCCCAGCTGGACTTGAAAGCCTGCAACCAGCTGCCCAAGTTCTATGGTGAGCTCCCAGCAGAACTGATCGGGGAGCCCCTGGAGGATCTAGATCCGTTCTACAGCACACACCGG
Seq A exon
ACATTTATGGTGCTGAACAAAGGGAGGACCATTTCCCGGTTTAGTGCCACTCGGGCCCTGTGGCTATTCAGTCCTTTCAACCTGATCAGAAGAACGGCCATCAAAGTGTCTGTCCACTC
Seq C2 exon
GTGGTTCAGTTTATTTATTACGGTCACTATTTTGGTTAATTGTGTGTGCATGACCCGAACTGACCTTCCAGAGAAAATTGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185313-'0-1,'0-0,1-1=AN
Average complexity
A_NA
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.289 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0052026=Ion_trans=PU(0.8=7.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal3)
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCCAAGCAGGGAACAAAGAA
R:
TGGAAGGTCAGTTCGGGTCAT
Band lengths:
254-373
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains