HsaINT0171028 @ hg19
Intron Retention
Gene
ENSG00000160404 | TOR2A
Description
torsin family 2, member A [Source:HGNC Symbol;Acc:11996]
Coordinates
chr9:130493803-130494970:-
Coord C1 exon
chr9:130494843-130494970
Coord A exon
chr9:130494558-130494842
Coord C2 exon
chr9:130493803-130494557
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
CAACACGGGTGGCAAGCAGATCAACCAGGTGGCATTGGAGGCGTGGCGCAGCCGGCGGGACCGCGAGGAGATCCTCCTGCAGGAGCTGGAGCCGGTCATCTCCCGCGCGGTGCTGGACAACCCGCACC
Seq A exon
GTGAGTCTGGCTCAGCAGCCCCCTCCCGGGCAGCTTCACCCCACACCCAGGGGCCAGGCTCTCCCGGGGTCTCATGCTTTGCCCACTGACCCGGCAGTTCTGAGCCTGGCTTTGGCACTCCCAGCTTTGTGACTTTGGGTGAGCCTTACAGCCCCTGAGTCCTACACCCAGAAGGCGGCTGAGGGAACTGAGGCCAGCATTTTTCCTCCTGCCCCTGGGGGTTTGGGGCCGGCTTCTCCCCTCTTGTGAAGCACAAAGTCCCCTCCCCACCTACCCTTCCTGCAG
Seq C2 exon
ATGGCTTCTCAAACTCGGGCATCATGGAAGAGCGCCTCCTAGACGCAGTGGTGCCCTTCCTCCCGCTCCAGCGGCACCACGTCCGGCACTGCGTGCTCAACGAGCTGGCCCAGCTGGGCCTGGAGCCAAGGGATGAGGTTGTCCAGGCTGTGCTGGACAGCACCACCTTCTTCCCTGAAGACGAGCAGCTCTTCTCCTCCAACGGCTGCAAGACCGTGGCCTCCCGAATCGCCTTCTTCCTCTGACTCTCTGAGTGGTGTCCTCGGCCCCCCTGATGGCCAGGCCATGCAGGAAAGGCCAGGGGCCTCTGTCACAGGAACCCAGAGCACCAAGTGAGATGAACGGAGTGTCGGCTAGGCCACGGGACAGATGGCCAGGAAGGGCCCTGGCCTCTAAACTGGCTCGAGAGCATCTTGGCCCCGGCCACCTTCCCCAGGGAAACCCCTGGTCACCCCAGAACCTCACTGAGCCTTGACCTCCCCCTGCAGCCTGAGCCTTCTTACTGTGAATTATAACTCAGGGACTGTGGCTCGTGGCGGTGCTCCCTCCTCAGTCTGCCACCCTTGCCCCTTGCCTCCTTGGTCGGGCACCATACCTCCTCCCCTCCACCCCACACCCTGTGTCCATATCAAGCCAGGTGGAGCCTTCTCAGTTTCCAGAAATGGAGGGACTCAAGCTGCCACTTGGGCCTGGTTTTAGATGTTTTTAATTTTGTAAAAGAAAACAAGTATAATAAACTCAGCTGTGGGACCAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160404-TOR2A:NM_001085347:4
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
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:
GCAGATCAACCAGGTGGCATT
R:
CTTCAGGGAAGAAGGTGGTGC
Band lengths:
293-578
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)