HsaEX0066553 @ hg38
Exon Skipping
Gene
ENSG00000136816 | TOR1B
Description
torsin family 1 member B [Source:HGNC Symbol;Acc:HGNC:11995]
Coordinates
chr9:129804073-129809032:+
Coord C1 exon
chr9:129804073-129804338
Coord A exon
chr9:129807188-129807363
Coord C2 exon
chr9:129808905-129809032
Length
176 bp
Sequences
Splice sites
3' ss Seq
TTCTTTCATGGTTGGTCCAGGAC
3' ss Score
5.71
5' ss Seq
CAGGTCAGC
5' ss Score
7.16
Exon sequences
Seq C1 exon
CTCTCAAGCTGGATTTGGAGGAGAAGCTGTTTGGACAGCATCTAGCCACGGAAGTGATTTTCAAGGCGCTGACTGGCTTCAGGAACAACAAAAATCCCAAGAAACCACTGACCCTTTCCTTACACGGCTGGGCTGGCACAGGCAAGAATTTTGTCAGTCAAATTGTGGCTGAAAATCTTCACCCAAAAGGTCTGAAGAGTAACTTTGTCCACCTGTTTGTATCGACTCTGCACTTCCCTCATGAGCAGAAGATAAAACTGTACCAG
Seq A exon
GACCAGTTACAGAAGTGGATCCGCGGTAATGTGAGTGCATGTGCGAACTCTGTTTTCATATTTGACGAGATGGATAAATTGCACCCCGGGATCATTGACGCAATCAAGCCGTTTCTAGACTACTACGAGCAGGTTGACGGAGTGTCTTACCGCAAAGCCATCTTCATCTTTCTCAG
Seq C2 exon
CAATGCAGGCGGGGACCTTATAACTAAGACGGCTCTTGACTTTTGGCGGGCCGGAAGAAAGAGGGAAGACATTCAGCTGAAGGACCTGGAACCTGTACTGTCTGTCGGAGTCTTCAATAATAAACACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136816-'2-9,'2-6,10-9
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF063096=Torsin=FE(69.8=100)
A:
PF063096=Torsin=PD(15.9=33.9)
C2:
NO
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGACTGGCTTCAGGAACAA
R:
GCCAAAAGTCAAGAGCCGTCT
Band lengths:
246-422
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