HsaEX6016339 @ hg19
Exon Skipping
Gene
ENSG00000153253 | SCN3A
Description
sodium channel, voltage-gated, type III, alpha subunit [Source:HGNC Symbol;Acc:10590]
Coordinates
chr2:165994389-165997508:-
Coord C1 exon
chr2:165997161-165997508
Coord A exon
chr2:165995986-165996118
Coord C2 exon
chr2:165994389-165994627
Length
133 bp
Sequences
Splice sites
3' ss Seq
CATCAGTATTTGGTTTGCAGGGC
3' ss Score
5.44
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
TCTCTCTTGAGTATCCGTGGCTCCCTGTTTTCCCCAAGACGCAATAGCAAAACAAGCATTTTCAGTTTCAGAGGTCGGGCAAAGGATGTTGGATCTGAAAATGACTTTGCTGATGATGAACACAGCACATTTGAAGACAGCGAAAGCAGGAGAGACTCACTGTTTGTGCCGCACAGACATGGAGAGCGACGCAACAGTAACGTTAGTCAGGCCAGTATGTCATCCAGGATGGTGCCAGGGCTTCCAGCAAATGGGAAGATGCACAGCACTGTGGATTGCAATGGTGTGGTTTCCTTGGTGGGTGGACCTTCAGCTCTAACGTCACCTACTGGACAACTTCCCCCAGAG
Seq A exon
GGCACCACCACAGAAACGGAAGTCAGAAAGAGAAGGTTAAGCTCTTACCAGATTTCAATGGAGATGCTGGAGGATTCCTCTGGAAGGCAAAGAGCCGTGAGCATAGCCAGCATTCTGACCAACACAATGGAAG
Seq C2 exon
AACTTGAAGAATCTAGACAGAAATGTCCGCCATGCTGGTATAGATTTGCCAATGTGTTCTTGATCTGGGACTGCTGTGATGCATGGTTAAAAGTAAAACATCTTGTGAATTTAATTGTTATGGATCCATTTGTTGATCTTGCCATCACTATTTGCATTGTCTTAAATACCCTCTTTATGGCCATGGAGCACTACCCCATGACTGAGCAATTCAGTAGTGTGTTGACTGTAGGAAACCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000153253-'16-16,'16-15,17-16=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.634 A=0.189 C2=0.000
Domain overlap (PFAM):
C1:
PF119333=DUF3451=FE(50.9=100)
A:
PF119333=DUF3451=PD(16.4=82.2)
C2:
PF0052026=Ion_trans=PU(1.6=3.8)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGGTGGACCTTCAGCTCTA
R:
TCAGTCATGGGGTAGTGCTCC
Band lengths:
256-389
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)