HsaINT0171006 @ hg38
Intron Retention
Gene
ENSG00000136827 | TOR1A
Description
torsin family 1 member A [Source:HGNC Symbol;Acc:HGNC:3098]
Coordinates
chr9:129818520-129818920:-
Coord C1 exon
chr9:129818745-129818920
Coord A exon
chr9:129818648-129818744
Coord C2 exon
chr9:129818520-129818647
Length
97 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
3' ss Seq
CCACTGGGATTGTTTTGCAGCAA
3' ss Score
7.02
Exon sequences
Seq C1 exon
GATCAGTTACAGTTGTGGATTCGAGGCAACGTGAGTGCCTGTGCGAGGTCCATCTTCATATTTGATGAAATGGATAAGATGCATGCAGGCCTCATAGATGCCATCAAGCCTTTCCTCGACTATTATGACCTGGTGGATGGGGTCTCCTACCAGAAAGCCATGTTCATATTTCTCAG
Seq A exon
GTAAGGTCAGGGCTAGGACATGATGGATGGGCCCCGAGCCCAAGCCTCTGAGCTCCAGGAGAAAACCCTGTCCTTACCCACTGGGATTGTTTTGCAG
Seq C2 exon
CAATGCTGGAGCAGAAAGGATCACAGATGTGGCTTTGGATTTCTGGAGGAGTGGAAAGCAGAGGGAAGACATCAAGCTCAAAGACATTGAACACGCGTTGTCTGTGTCGGTTTTCAATAACAAGAACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136827:ENST00000351698:3
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF063096=Torsin=PD(15.9=33.9)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
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:
TGGATAAGATGCATGCAGGCC
R:
TCCCTCTGCTTTCCACTCCTC
Band lengths:
172-269
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains