HsaEX0056561 @ hg38
Exon Skipping
Gene
ENSG00000136546 | SCN7A
Description
sodium voltage-gated channel alpha subunit 7 [Source:HGNC Symbol;Acc:HGNC:10594]
Coordinates
chr2:166403573-166410324:-
Coord C1 exon
chr2:166410220-166410324
Coord A exon
chr2:166409665-166409935
Coord C2 exon
chr2:166403573-166406646
Length
271 bp
Sequences
Splice sites
3' ss Seq
CCTGTTGATTTTACCCACAGAAC
3' ss Score
9.56
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
CTGGGAGGCTCAAATATCTTTATAACGGTTAAACAGAGAAAACAGTACCGCAGGCTGAAGAAGCTAATGTATGAGGATTCTCAAAGACCAGTACCTCGCCCATTA
Seq A exon
AACAAGCTCCAAGGATTCATCTTTGATGTGGTAACAAGCCAAGCTTTTAATGTCATTGTTATGGTTCTTATATGTTTCCAAGCAATAGCCATGATGATAGACACTGATGTTCAGAGTCTACAAATGTCCATTGCTCTCTACTGGATTAACTCAATTTTTGTTATGCTATATACTATGGAATGTATACTGAAGCTCATCGCTTTCCGTTGTTTTTATTTCACCATTGCGTGGAACATTTTTGATTTTATGGTGGTTATTTTCTCCATCACAG
Seq C2 exon
GACTATGTCTGCCTATGACAGTAGGATCCTACCTTGTGCCTCCTTCACTTGTGCAACTGATACTTCTCTCACGGATCATTCACATGCTGCGTCTTGGAAAAGGACCAAAGGTGTTTCATAATCTGATGCTTCCTTTGATGCTGTCCCTCCCAGCATTATTGAACATCATTCTTCTCATCTTCCTGGTCATGTTCATCTATGCCGTATTTGGAATGTATAATTTTGCCTATGTTAAAAAAGAAGCTGGAATTAATGATGTGTCTAATTTTGAAACCTTTGGCAACAGTATGCTCTGTCTTTTTCAAGTTGCAATATTTGCTGGTTGGGATGGGATGCTTGATGCAATTTTCAACAGTAAATGGTCTGACTGTGATCCTGATAAAATTAACCCTGGGACTCAAGTTAGAGGAGATTGTGGGAACCCCTCTGTTGGGATTTTTTATTTTGTCAGTTATATCCTCATATCATGGCTGATCATTGTAAATATGTACATTGTTGTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136546_CASSETTE1
Average complexity
S*
Mappability confidence:
100%=50=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.045
Domain overlap (PFAM):
C1:
NO
A:
PF0052026=Ion_trans=PU(20.4=47.3)
C2:
PF0052026=Ion_trans=PD(79.1=46.9)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGACCAGTACCTCGCCCATTA
R:
ACTGTTGCCAAAGGTTTCAAA
Band lengths:
308-579
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