HsaALTA1028097-1/2 @ hg38
Alternative 3'ss
Gene
ENSG00000136816 | TOR1B
Description
torsin family 1 member B [Source:HGNC Symbol;Acc:HGNC:11995]
Coordinates
chr9:129804073-129807217:+
Coord C1 exon
chr9:129804073-129804338
Coord A exon
NA
Coord C2 exon
chr9:129807188-129807217
Length
0 bp
Sequences
Splice sites
5' ss Seq
CAGGCAAGA
5' ss Score
3.01
3' ss Seq
TTCTTTCATGGTTGGTCCAGGAC
3' ss Score
5.71
Exon sequences
Seq C1 exon
CTCTCAAGCTGGATTTGGAGGAGAAGCTGTTTGGACAGCATCTAGCCACGGAAGTGATTTTCAAGGCGCTGACTGGCTTCAGGAACAACAAAAATCCCAAGAAACCACTGACCCTTTCCTTACACGGCTGGGCTGGCACAGGCAAGAATTTTGTCAGTCAAATTGTGGCTGAAAATCTTCACCCAAAAGGTCTGAAGAGTAACTTTGTCCACCTGTTTGTATCGACTCTGCACTTCCCTCATGAGCAGAAGATAAAACTGTACCAG
Seq A exon
NA
Seq C2 exon
GACCAGTTACAGAAGTGGATCCGCGGTAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136816-2-6,2-5-1/2
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=FE(69.8=100)
A:
NA
C2:
PF063096=Torsin=PD(15.9=33.9)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACCCTTTCCTTACACGGCTG
R:
CCGCGGATCCACTTCTGTAAC
Band lengths:
183-268
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains