HsaALTA1038952-2/2 @ hg38
Alternative 3'ss
Gene
ENSG00000160404 | TOR2A
Description
torsin family 2 member A [Source:HGNC Symbol;Acc:HGNC:11996]
Coordinates
chr9:127734299-127735292:-
Coord C1 exon
chr9:127735120-127735292
Coord A exon
chr9:127734380-127734564
Coord C2 exon
chr9:127734299-127734379
Length
185 bp
Sequences
Splice sites
5' ss Seq
CGGGTGAGG
5' ss Score
8.48
3' ss Seq
CCATCCTCCTGTGGCCCTAGGTC
3' ss Score
9.98
Exon sequences
Seq C1 exon
AACGAGCTCGGGCCTCACCCGGATGGCGGCTGCGACGCGCGGCTGCCGGCCCTGGGGCTCGCTCCTCGGGCTGCTCGGGCTGGTCTCGGCCGCGGCCGCCGCCTGGGACCTGGCTTCCCTGCGCTGCACCTTGGGCGCCTTTTGCGAATGCGACTTCCGGCCCGACTTGCCGG
Seq A exon
GTCTGGAGTGTGACCTGGCTCAGCACCTGGCCGGCCAGCATCTGGCCAAGGCGCTGGTGGTGAAGGCGCTGAAGGCCTTTGTGCGGGACCCAGCCCCCACCAAGCCGCTGGTCCTCTCCCTGCACGGCTGGACCGGCACCGGCAAATCCTATGTCAGCTCCCTGCTGGCGCACTACCTCTTCCAG
Seq C2 exon
GGCGGCCTCCGCAGCCCCCGCGTGCACCACTTTTCTCCCGTCCTCCACTTCCCCCACCCCAGCCACATCGAGCGCTACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160404-0-2,0-1-2/2
Average complexity
Alt3
Mappability confidence:
NA
Protein Impact
Protein isoform when splice site is used (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF063096=Torsin=PU(12.7=31.4)
A:
NA
C2:
PF063096=Torsin=FE(69.8=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACGAGCTCGGGCCTCAC
R:
CTTGTAGCGCTCGATGTGGC
Band lengths:
254-439
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains