HsaEX6016443 @ hg19
Exon Skipping
Gene
ENSG00000136546 | SCN7A
Description
sodium channel, voltage-gated, type VII, alpha subunit [Source:HGNC Symbol;Acc:10594]
Coordinates
chr2:167266730-167269631:-
Coord C1 exon
chr2:167269578-167269631
Coord A exon
chr2:167269040-167269177
Coord C2 exon
chr2:167266730-167266834
Length
138 bp
Sequences
Splice sites
3' ss Seq
TGCTTATTTTAAACTTCTAGGTT
3' ss Score
8.72
5' ss Seq
AAGATAAGT
5' ss Score
2.82
Exon sequences
Seq C1 exon
GCAACATTTAATGGATGGATCACTATTATGAATTCAGCAATTGATTCTGTTGCT
Seq A exon
GTTAATATACAGCCTCATTTTGAAGTCAACATCTACATGTATTGTTACTTTATCAACTTTATTATATTTGGAGTATTTCTCCCTCTGAGTATGCTGATTACTGTTATTATTGATAATTTCAACAAGCATAAAATAAAG
Seq C2 exon
CTGGGAGGCTCAAATATCTTTATAACGGTTAAACAGAGAAAACAGTACCGCAGGCTGAAGAAGCTAATGTATGAGGATTCTCAAAGACCAGTACCTCGCCCATTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136546-'27-26,'27-25,28-26=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=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(7.6=100)
A:
PF0052026=Ion_trans=PD(15.7=76.1)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAACATTTAATGGATGGATCACT
R:
ATGGGCGAGGTACTGGTCTTT
Band lengths:
157-295
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)