HsaEX6016444 @ hg38
Exon Skipping
Gene
ENSG00000136546 | SCN7A
Description
sodium voltage-gated channel alpha subunit 7 [Source:HGNC Symbol;Acc:HGNC:10594]
Coordinates
chr2:166409665-166412667:-
Coord C1 exon
chr2:166412530-166412667
Coord A exon
chr2:166410220-166410324
Coord C2 exon
chr2:166409665-166409935
Length
105 bp
Sequences
Splice sites
3' ss Seq
TTTTTCTTTCCTTTCTTTACCTG
3' ss Score
2.5
5' ss Seq
TTAGTAAGA
5' ss Score
3.78
Exon sequences
Seq C1 exon
GTTAATATACAGCCTCATTTTGAAGTCAACATCTACATGTATTGTTACTTTATCAACTTTATTATATTTGGAGTATTTCTCCCTCTGAGTATGCTGATTACTGTTATTATTGATAATTTCAACAAGCATAAAATAAAG
Seq A exon
CTGGGAGGCTCAAATATCTTTATAACGGTTAAACAGAGAAAACAGTACCGCAGGCTGAAGAAGCTAATGTATGAGGATTCTCAAAGACCAGTACCTCGCCCATTA
Seq C2 exon
AACAAGCTCCAAGGATTCATCTTTGATGTGGTAACAAGCCAAGCTTTTAATGTCATTGTTATGGTTCTTATATGTTTCCAAGCAATAGCCATGATGATAGACACTGATGTTCAGAGTCTACAAATGTCCATTGCTCTCTACTGGATTAACTCAATTTTTGTTATGCTATATACTATGGAATGTATACTGAAGCTCATCGCTTTCCGTTGTTTTTATTTCACCATTGCGTGGAACATTTTTGATTTTATGGTGGTTATTTTCTCCATCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136546-'36-45,'36-44,37-45=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=PD(15.7=76.1)
A:
NO
C2:
PF0052026=Ion_trans=PU(20.4=47.3)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCTCTGAGTATGCTGATTACTGT
R:
GCGATGAGCTTCAGTATACATTCCA
Band lengths:
258-363
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains