HsaEX6016440 @ hg19
Exon Skipping
Gene
ENSG00000136546 | SCN7A
Description
sodium channel, voltage-gated, type VII, alpha subunit [Source:HGNC Symbol;Acc:10594]
Coordinates
chr2:167273217-167279942:-
Coord C1 exon
chr2:167279769-167279942
Coord A exon
chr2:167277700-167277807
Coord C2 exon
chr2:167273217-167273495
Length
108 bp
Sequences
Splice sites
3' ss Seq
TTTTTAAAAAAAATATATAGGTG
3' ss Score
3.74
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
GCTTTTGAAGATATATATATGGATCAGAGAAAGACAATTAAAATTTTATTAGAATATGCTGACATGATCTTTACTTATATCTTCATTCTGGAAATGCTTCTAAAATGGATGGCATATGGTTTTAAGGCCTATTTCTCTAATGGCTGGTACAGGCTGGACTTCGTGGTTGTTATT
Seq A exon
GTGTTTTGTCTTAGCTTAATAGGCAAAACTCGGGAAGAACTAAAACCTCTTATTTCCATGAAATTCCTTCGGCCCCTCAGAGTTCTATCTCAATTTGAAAGAATGAAG
Seq C2 exon
GTGGTTGTGAGAGCTTTGATCAAAACAACCTTACCCACTTTGAATGTGTTTCTTGTCTGCCTGATGATCTGGCTGATTTTTAGTATCATGGGAGTAGACTTATTTGCTGGCAGATTCTATGAATGCATTGACCCAACAAGTGGAGAAAGGTTTCCTTCATCTGAAGTCATGAATAAGAGTCGGTGTGAAAGCCTTCTGTTTAACGAATCCATGCTATGGGAAAATGCAAAAATGAACTTTGATAATGTTGGAAATGGTTTCCTTTCTCTGCTTCAAGTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136546-'24-23,'24-22,25-23=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=PU(17.5=67.2)
A:
PF0052026=Ion_trans=FE(15.7=100)
C2:
PF0052026=Ion_trans=FE(41.3=100)
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:
GGCCTATTTCTCTAATGGCTGGT
R:
ACAGAAGGCTTTCACACCGAC
Band lengths:
248-356
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)