HsaEX0066556 @ hg19
Exon Skipping
Gene
ENSG00000160404 | TOR2A
Description
torsin family 2, member A [Source:HGNC Symbol;Acc:11996]
Coordinates
chr9:130494843-130496843:-
Coord C1 exon
chr9:130496578-130496843
Coord A exon
chr9:130495664-130495839
Coord C2 exon
chr9:130494843-130494970
Length
176 bp
Sequences
Splice sites
3' ss Seq
CTCCTGTCTCTCCCCTACAGAAG
3' ss Score
11.21
5' ss Seq
CAGGTGGGG
5' ss Score
6.92
Exon sequences
Seq C1 exon
GTCTGGAGTGTGACCTGGCTCAGCACCTGGCCGGCCAGCATCTGGCCAAGGCGCTGGTGGTGAAGGCGCTGAAGGCCTTTGTGCGGGACCCAGCCCCCACCAAGCCGCTGGTCCTCTCCCTGCACGGCTGGACCGGCACCGGCAAATCCTATGTCAGCTCCCTGCTGGCGCACTACCTCTTCCAGGGCGGCCTCCGCAGCCCCCGCGTGCACCACTTTTCTCCCGTCCTCCACTTCCCCCACCCCAGCCACATCGAGCGCTACAAG
Seq A exon
AAGGATCTGAAGAGCTGGGTCCAAGGGAACCTCACTGCCTGTGGCCGCTCCCTCTTCCTCTTCGATGAGATGGACAAGATGCCCCCAGGCCTGATGGAAGTCCTGCGGCCTTTCCTGGGCTCCTCCTGGGTGGTATACGGGACCAATTACCGCAAAGCCATCTTCATCTTCATCAG
Seq C2 exon
CAACACGGGTGGCAAGCAGATCAACCAGGTGGCATTGGAGGCGTGGCGCAGCCGGCGGGACCGCGAGGAGATCCTCCTGCAGGAGCTGGAGCCGGTCATCTCCCGCGCGGTGCTGGACAACCCGCACC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160404-'1-3,'1-1,3-3
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.002 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 Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGGCGCTGAAGGCCTTT
R:
CCAATGCCACCTGGTTGATCT
Band lengths:
243-419
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development
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)