HsaEX0066557 @ hg19
Exon Skipping
Gene
ENSG00000160404 | TOR2A
Description
torsin family 2, member A [Source:HGNC Symbol;Acc:11996]
Coordinates
chr9:130493803-130495839:-
Coord C1 exon
chr9:130495664-130495839
Coord A exon
chr9:130494843-130494970
Coord C2 exon
chr9:130493803-130494557
Length
128 bp
Sequences
Splice sites
3' ss Seq
TGGGTCCCCCATGGTTTTAGCAA
3' ss Score
4.96
5' ss Seq
ACCGTGAGT
5' ss Score
9.4
Exon sequences
Seq C1 exon
AAGGATCTGAAGAGCTGGGTCCAAGGGAACCTCACTGCCTGTGGCCGCTCCCTCTTCCTCTTCGATGAGATGGACAAGATGCCCCCAGGCCTGATGGAAGTCCTGCGGCCTTTCCTGGGCTCCTCCTGGGTGGTATACGGGACCAATTACCGCAAAGCCATCTTCATCTTCATCAG
Seq A exon
CAACACGGGTGGCAAGCAGATCAACCAGGTGGCATTGGAGGCGTGGCGCAGCCGGCGGGACCGCGAGGAGATCCTCCTGCAGGAGCTGGAGCCGGTCATCTCCCGCGCGGTGCTGGACAACCCGCACC
Seq C2 exon
ATGGCTTCTCAAACTCGGGCATCATGGAAGAGCGCCTCCTAGACGCAGTGGTGCCCTTCCTCCCGCTCCAGCGGCACCACGTCCGGCACTGCGTGCTCAACGAGCTGGCCCAGCTGGGCCTGGAGCCAAGGGATGAGGTTGTCCAGGCTGTGCTGGACAGCACCACCTTCTTCCCTGAAGACGAGCAGCTCTTCTCCTCCAACGGCTGCAAGACCGTGGCCTCCCGAATCGCCTTCTTCCTCTGACTCTCTGAGTGGTGTCCTCGGCCCCCCTGATGGCCAGGCCATGCAGGAAAGGCCAGGGGCCTCTGTCACAGGAACCCAGAGCACCAAGTGAGATGAACGGAGTGTCGGCTAGGCCACGGGACAGATGGCCAGGAAGGGCCCTGGCCTCTAAACTGGCTCGAGAGCATCTTGGCCCCGGCCACCTTCCCCAGGGAAACCCCTGGTCACCCCAGAACCTCACTGAGCCTTGACCTCCCCCTGCAGCCTGAGCCTTCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160404-'3-4,'3-3,4-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.002 A=0.000 C2=0.254
Domain overlap (PFAM):
C1:
PF063096=Torsin=PD(15.9=33.9)
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCTCCTGGGTGGTATACGG
R:
AGGAGAAGAGCTGCTCGTCTT
Band lengths:
255-383
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
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)