HsaEX0066555 @ hg38
Exon Skipping
Gene
ENSG00000160404 | TOR2A
Description
torsin family 2 member A [Source:HGNC Symbol;Acc:HGNC:11996]
Coordinates
chr9:127733385-127735292:-
Coord C1 exon
chr9:127735120-127735292
Coord A exon
chr9:127734299-127734564
Coord C2 exon
chr9:127733385-127733560
Length
266 bp
Sequences
Splice sites
3' ss Seq
CCATCCTCCTGTGGCCCTAGGTC
3' ss Score
9.98
5' ss Seq
AAGGTAGGC
5' ss Score
10.08
Exon sequences
Seq C1 exon
AACGAGCTCGGGCCTCACCCGGATGGCGGCTGCGACGCGCGGCTGCCGGCCCTGGGGCTCGCTCCTCGGGCTGCTCGGGCTGGTCTCGGCCGCGGCCGCCGCCTGGGACCTGGCTTCCCTGCGCTGCACCTTGGGCGCCTTTTGCGAATGCGACTTCCGGCCCGACTTGCCGG
Seq A exon
GTCTGGAGTGTGACCTGGCTCAGCACCTGGCCGGCCAGCATCTGGCCAAGGCGCTGGTGGTGAAGGCGCTGAAGGCCTTTGTGCGGGACCCAGCCCCCACCAAGCCGCTGGTCCTCTCCCTGCACGGCTGGACCGGCACCGGCAAATCCTATGTCAGCTCCCTGCTGGCGCACTACCTCTTCCAGGGCGGCCTCCGCAGCCCCCGCGTGCACCACTTTTCTCCCGTCCTCCACTTCCCCCACCCCAGCCACATCGAGCGCTACAAG
Seq C2 exon
AAGGATCTGAAGAGCTGGGTCCAAGGGAACCTCACTGCCTGTGGCCGCTCCCTCTTCCTCTTCGATGAGATGGACAAGATGCCCCCAGGCCTGATGGAAGTCCTGCGGCCTTTCCTGGGCTCCTCCTGGGTGGTATACGGGACCAATTACCGCAAAGCCATCTTCATCTTCATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160404-'2-4,'2-1,3-4=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.015
Domain overlap (PFAM):
C1:
PF063096=Torsin=PU(12.7=31.4)
A:
PF063096=Torsin=FE(69.8=100)
C2:
PF063096=Torsin=PD(15.9=33.9)
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCGCTGCCGAGCTGAATC
R:
CTGATGAAGATGAAGATGGCTTTGC
Band lengths:
268-534
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