HsaEX6063424 @ hg38
Exon Skipping
Gene
ENSG00000136827 | TOR1A
Description
torsin family 1 member A [Source:HGNC Symbol;Acc:HGNC:3098]
Coordinates
chr9:129818520-129822846:-
Coord C1 exon
chr9:129822581-129822846
Coord A exon
chr9:129818745-129818920
Coord C2 exon
chr9:129818520-129818647
Length
176 bp
Sequences
Splice sites
3' ss Seq
TTTTTCCCCTTTTAATTCAGGAT
3' ss Score
9.84
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
Exon sequences
Seq C1 exon
CACTGCAGAAGGATCTGGACGACAACCTCTTTGGACAGCATCTTGCAAAGAAAATCATCTTAAATGCCGTGTTTGGTTTCATAAACAACCCAAAGCCCAAGAAACCTCTCACGCTCTCCCTGCACGGGTGGACAGGCACCGGCAAAAATTTCGTCAGCAAGATCATCGCAGAGAATATTTACGAGGGTGGTCTGAACAGTGACTATGTCCACCTGTTTGTGGCCACATTGCACTTTCCACATGCTTCAAACATCACCTTGTACAAG
Seq A exon
GATCAGTTACAGTTGTGGATTCGAGGCAACGTGAGTGCCTGTGCGAGGTCCATCTTCATATTTGATGAAATGGATAAGATGCATGCAGGCCTCATAGATGCCATCAAGCCTTTCCTCGACTATTATGACCTGGTGGATGGGGTCTCCTACCAGAAAGCCATGTTCATATTTCTCAG
Seq C2 exon
CAATGCTGGAGCAGAAAGGATCACAGATGTGGCTTTGGATTTCTGGAGGAGTGGAAAGCAGAGGGAAGACATCAAGCTCAAAGACATTGAACACGCGTTGTCTGTGTCGGTTTTCAATAACAAGAACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136827-'5-7,'5-5,11-7
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF063096=Torsin=FE(69.8=100)
A:
PF063096=Torsin=PD(15.9=33.9)
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:
ACCCAAAGCCCAAGAAACCTC
R:
TCCCTCTGCTTTCCACTCCTC
Band lengths:
245-421
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains