HsaEX0056560 @ hg38
Exon Skipping
Gene
ENSG00000136546 | SCN7A
Description
sodium voltage-gated channel alpha subunit 7 [Source:HGNC Symbol;Acc:HGNC:10594]
Coordinates
chr2:166477463-166494247:-
Coord C1 exon
chr2:166493968-166494247
Coord A exon
chr2:166486856-166486968
Coord C2 exon
chr2:166477463-166477710
Length
113 bp
Sequences
Splice sites
3' ss Seq
TTAGAACTGTTTTGCAACAGGTC
3' ss Score
6.21
5' ss Seq
CAGGTATTT
5' ss Score
7.51
Exon sequences
Seq C1 exon
CTCCACTGGACATCTGGGTAGGAGGGGTCTCTGGGTCAGTGGCTGGAGAGTCGCCCCAGTGAGTCGGTGTCTAACTGGCCATTTAGTGGGGCCCATTTACTGCAGAGCCACAGCTGGTGAGGACAGACGCCAGCCTAACAGCAGCTTCTGTACAACTAGAGCTCAGAAAACCCGAGAGATCCGTGGAGAAAGAGAAGCCCAGGAGGAGGAAAGGGCTCCAAGGAGCCCTGCTCCTGAAGGGTCCCTCAGGCACTGGTGGAGACCTGTCGCTTCGTAGCAA
Seq A exon
GTCCTCCACCATGTGAATGCCAACATGGCCAGGTCATTAGAGCTGAGGGAAAACTAGTGCCCAAAGATATGAAAAGAGTGTGGATCTTCTGGAGAAGTGCTGTTGTTCAACAG
Seq C2 exon
GTACAAAATTGGAAATGTTGGCTTCACCAGAACCTAAGGGCCTTGTTCCCTTCACTAAAGAGTCTTTTGAACTTATAAAACAGCATATTGCTAAAACACATAATGAAGACCATGAAGAAGAAGACTTAAAGCCAACTCCTGATTTGGAAGTTGGCAAAAAGCTTCCATTTATTTATGGAAACCTTTCTCAAGGAATGGTGTCAGAGCCCTTGGAAGATGTGGACCCATATTACTACAAGAAAAAAAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136546_MULTIEX1-1/2=C1-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
5' UTR
No structure available
Features
Disorder rate (Iupred):
C1=NA A=NA C2=0.141
Domain overlap (PFAM):
C1:
NA
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TAGTGGGGCCCATTTACTGCA
R:
ACAAGGCCCTTAGGTTCTGGT
Band lengths:
243-356
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development