Special

HsaEX6016336 @ hg19

Exon Skipping

Gene
Description
sodium channel, voltage-gated, type III, alpha subunit [Source:HGNC Symbol;Acc:10590]
Coordinates
chr2:166003249-166012413:-
Coord C1 exon
chr2:166012272-166012413
Coord A exon
chr2:166010962-166011168
Coord C2 exon
chr2:166003249-166003539
Length
207 bp
Sequences
Splice sites
3' ss Seq
TTATCCCCCATTTCCCCTAGACA
3' ss Score
8.91
5' ss Seq
CAGGTACTG
5' ss Score
9.04
Exon sequences
Seq C1 exon
CCAGTGTCCAGAAGGATACATCTGTGTGAAGGCTGGTCGAAACCCCAACTATGGCTACACAAGCTTTGACACCTTTAGCTGGGCTTTCCTGTCTCTATTTCGACTCATGACTCAAGACTACTGGGAAAATCTTTACCAGTTG
Seq A exon
ACATTACGTGCTGCTGGGAAAACATACATGATATTTTTTGTCCTGGTCATTTTCTTGGGCTCATTTTATTTGGTGAATTTGATCCTGGCTGTGGTGGCCATGGCCTATGAGGAGCAGAATCAGGCCACCTTGGAAGAAGCAGAACAAAAAGAGGCCGAATTTCAGCAGATGCTCGAACAGCTTAAAAAGCAACAGGAAGAAGCTCAG
Seq C2 exon
GCAGTTGCGGCAGCATCAGCTGCTTCAAGAGATTTCAGTGGAATAGGTGGGTTAGGAGAGCTGTTGGAAAGTTCTTCAGAAGCATCAAAGTTGAGTTCCAAAAGTGCTAAAGAATGGAGGAACCGAAGGAAGAAAAGAAGACAGAGAGAGCACCTTGAAGGAAACAACAAAGGAGAGAGAGACAGCTTTCCCAAATCCGAATCTGAAGACAGCGTCAAAAGAAGCAGCTTCCTTTTCTCCATGGATGGAAACAGACTGACCAGTGACAAAAAATTCTGCTCCCCTCATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000153253-'12-13,'12-12,13-13=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=0.101 C2=0.433
Domain overlap (PFAM):

C1:
PF0052026=Ion_trans=FE(17.5=100)
A:
PF0052026=Ion_trans=PD(11.6=44.9)
C2:
PF119333=DUF3451=PU(31.4=73.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
AGCTGGGCTTTCCTGTCTCTA
R:
AGCTGCTTCTTTTGACGCTGT
Band lengths:
295-502
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains