HsaINT0171028 @ hg38
Intron Retention
Gene
ENSG00000160404 | TOR2A
Description
torsin family 2 member A [Source:HGNC Symbol;Acc:HGNC:11996]
Coordinates
chr9:127731912-127732874:-
Coord C1 exon
chr9:127732564-127732874
Coord A exon
chr9:127732279-127732563
Coord C2 exon
chr9:127731912-127732278
Length
285 bp
Sequences
Splice sites
5' ss Seq
ACCGTGAGT
5' ss Score
9.4
3' ss Seq
CCCACCTACCCTTCCTGCAGATG
3' ss Score
11.57
Exon sequences
Seq C1 exon
GTGAATTACAGGGGCCATGGATGTGGACACCATGGAGGGGGAAGTGGAGCGTTTTCAGTGGAGTTGGCTCCTCCCCGCACTGAGCCATGTTCCTATGTCAGGTGGCAGCGGGGAAGCGAGGGTCCAATCCTGCCCTGCGCTAGTCCTCATCTGAGTCTCAGCCTGGGTCCCCCATGGTTTTAGCAACACGGGTGGCAAGCAGATCAACCAGGTGGCATTGGAGGCGTGGCGCAGCCGGCGGGACCGCGAGGAGATCCTCCTGCAGGAGCTGGAGCCGGTCATCTCCCGCGCGGTGCTGGACAACCCGCACC
Seq A exon
GTGAGTCTGGCTCAGCAGCCCCCTCCCGGGCAGCTTCACCCCACACCCAGGGGCCAGGCTCTCCCGGGGTCTCATGCTTTGCCCACTGACCCGGCAGTTCTGAGCCTGGCTTTGGCACTCCCAGCTTTGTGACTTTGGGTGAGCCTTACAGCCCCTGAGTCCTACACCCAGAAGGCGGCTGAGGGAACTGAGGCCAGCATTTTTCCTCCTGCCCCTGGGGGTTTGGGGCCGGCTTCTCCCCTCTTGTGAAGCACAAAGTCCCCTCCCCACCTACCCTTCCTGCAG
Seq C2 exon
ATGGCTTCTCAAACTCGGGCATCATGGAAGAGCGCCTCCTAGACGCAGTGGTGCCCTTCCTCCCGCTCCAGCGGCACCACGTCCGGCACTGCGTGCTCAACGAGCTGGCCCAGCTGGGCCTGGAGCCAAGGGATGAGGTTGTCCAGGCTGTGCTGGACAGCACCACCTTCTTCCCTGAAGACGAGCAGCTCTTCTCCTCCAACGGCTGCAAGACCGTGGCCTCCCGAATCGCCTTCTTCCTCTGACTCTCTGAGTGGTGTCCTCGGCCCCCCTGATGGCCAGGCCATGCAGGAAAGGCCAGGGGCCTCTGTCACAGGAACCCAGAGCACCAAGTGAGATGAACGGAGTGTCGGCTAGGCCACGGGAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160404:ENST00000494135:1
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=0.254
Domain overlap (PFAM):
C1:
NO
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:
GGGAAGTGGAGCGTTTTCAGT
R:
TGATGCCCGAGTTTGAGAAGC
Band lengths:
297-582
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains