HsaINT0171031 @ hg19
Intron Retention
Gene
ENSG00000160404 | TOR2A
Description
torsin family 2, member A [Source:HGNC Symbol;Acc:11996]
Coordinates
chr9:130496578-130497604:-
Coord C1 exon
chr9:130497399-130497604
Coord A exon
chr9:130496844-130497398
Coord C2 exon
chr9:130496578-130496843
Length
555 bp
Sequences
Splice sites
5' ss Seq
CGGGTGAGG
5' ss Score
8.48
3' ss Seq
CCATCCTCCTGTGGCCCTAGGTC
3' ss Score
9.98
Exon sequences
Seq C1 exon
GCAGTTCCCGGGCGAGGCAGTTGACTGCCCCACAACGAGCTCGGGCCTCACCCGGATGGCGGCTGCGACGCGCGGCTGCCGGCCCTGGGGCTCGCTCCTCGGGCTGCTCGGGCTGGTCTCGGCCGCGGCCGCCGCCTGGGACCTGGCTTCCCTGCGCTGCACCTTGGGCGCCTTTTGCGAATGCGACTTCCGGCCCGACTTGCCGG
Seq A exon
GTGAGGCGCCAGGGAGCCCGGAGCGAGGGGCGGGCGGACGCGGGCAGACGCGGGAGCGCTGGGAGCCCTGGGAGCCCGGCTGGCGCCGGCCAGAGAAGCTGAGGACCCAGAGGGTGGGACCGAGGGGCGGGGCCCGCAGACTTGGGAGGGTGGAGGGTACCCGTTGAGGTCCAGGAGGCCCTGCCAACCTGGAGAGAGGCCTCAGCCAGCAGAACCCTTGGTGGAAGTTCTTGGGCCTCCCCGGAATGGCCTGGCCGTCAAAGGAGAAGTGCAGTGCGCCTTGGGGATGGGCGGGGTCTGCGGCTGACCCCGTTGACAGCTCGCATTTAGAGCTGAGTGCAATCTAGAGGACCGCCTGGTGGGGGCGCTGCCGAGCTGAATCAGGCCCGAAGGTGGCTCTTTTCCGCCACAGACCCCAAGGTTTGCGTGCCATGTGCATAGGCAGCTTGGACAAACGTAAGGACACAGGAGTCCCAGACCAGGTTCCAGACATGATGTTCTCCTTGAACCTCTGCCTCGGTGGGATGTGTCCTCACCATCCTCCTGTGGCCCTAG
Seq C2 exon
GTCTGGAGTGTGACCTGGCTCAGCACCTGGCCGGCCAGCATCTGGCCAAGGCGCTGGTGGTGAAGGCGCTGAAGGCCTTTGTGCGGGACCCAGCCCCCACCAAGCCGCTGGTCCTCTCCCTGCACGGCTGGACCGGCACCGGCAAATCCTATGTCAGCTCCCTGCTGGCGCACTACCTCTTCCAGGGCGGCCTCCGCAGCCCCCGCGTGCACCACTTTTCTCCCGTCCTCCACTTCCCCCACCCCAGCCACATCGAGCGCTACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160404-TOR2A:NM_130459:1
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF063096=Torsin=PU(12.7=31.4)
A:
NA
C2:
PF063096=Torsin=FE(69.8=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTGACTGCCCCACAACGAG
R:
TGACATAGGATTTGCCGGTGC
Band lengths:
343-898
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
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)