HsaINT0171030 @ hg19
Intron Retention
Gene
ENSG00000160404 | TOR2A
Description
torsin family 2, member A [Source:HGNC Symbol;Acc:11996]
Coordinates
chr9:130493803-130497604:-
Coord C1 exon
chr9:130497399-130497604
Coord A exon
chr9:130495840-130497398
Coord C2 exon
chr9:130493803-130495839
Length
1559 bp
Sequences
Splice sites
5' ss Seq
CGGGTGAGG
5' ss Score
8.48
3' ss Seq
CTCCTGTCTCTCCCCTACAGAAG
3' ss Score
11.21
Exon sequences
Seq C1 exon
GCAGTTCCCGGGCGAGGCAGTTGACTGCCCCACAACGAGCTCGGGCCTCACCCGGATGGCGGCTGCGACGCGCGGCTGCCGGCCCTGGGGCTCGCTCCTCGGGCTGCTCGGGCTGGTCTCGGCCGCGGCCGCCGCCTGGGACCTGGCTTCCCTGCGCTGCACCTTGGGCGCCTTTTGCGAATGCGACTTCCGGCCCGACTTGCCGG
Seq A exon
GTGAGGCGCCAGGGAGCCCGGAGCGAGGGGCGGGCGGACGCGGGCAGACGCGGGAGCGCTGGGAGCCCTGGGAGCCCGGCTGGCGCCGGCCAGAGAAGCTGAGGACCCAGAGGGTGGGACCGAGGGGCGGGGCCCGCAGACTTGGGAGGGTGGAGGGTACCCGTTGAGGTCCAGGAGGCCCTGCCAACCTGGAGAGAGGCCTCAGCCAGCAGAACCCTTGGTGGAAGTTCTTGGGCCTCCCCGGAATGGCCTGGCCGTCAAAGGAGAAGTGCAGTGCGCCTTGGGGATGGGCGGGGTCTGCGGCTGACCCCGTTGACAGCTCGCATTTAGAGCTGAGTGCAATCTAGAGGACCGCCTGGTGGGGGCGCTGCCGAGCTGAATCAGGCCCGAAGGTGGCTCTTTTCCGCCACAGACCCCAAGGTTTGCGTGCCATGTGCATAGGCAGCTTGGACAAACGTAAGGACACAGGAGTCCCAGACCAGGTTCCAGACATGATGTTCTCCTTGAACCTCTGCCTCGGTGGGATGTGTCCTCACCATCCTCCTGTGGCCCTAGGTCTGGAGTGTGACCTGGCTCAGCACCTGGCCGGCCAGCATCTGGCCAAGGCGCTGGTGGTGAAGGCGCTGAAGGCCTTTGTGCGGGACCCAGCCCCCACCAAGCCGCTGGTCCTCTCCCTGCACGGCTGGACCGGCACCGGCAAATCCTATGTCAGCTCCCTGCTGGCGCACTACCTCTTCCAGGGCGGCCTCCGCAGCCCCCGCGTGCACCACTTTTCTCCCGTCCTCCACTTCCCCCACCCCAGCCACATCGAGCGCTACAAGGTAGGCTGGATGCGTCCTTGACCACTGTTCTCACCATGGGGTGCCACCCTAGGGAGTAAGTCCTGAGCCCAGACAGGGGAGTCACCTGCTCCAGGCCACACACGGCTGCAGCCCCAGCCCTCAGGACCCATCCTGCACAGAACTTGGGAAGGTGTCATTCTACCTGGCAGGGAGTACTTTGATTCCTTGGGGCAGTAAGGAACCCTGGCAGTACCTACATGCCAGGGTTGTTGTGAGGGACATGAGATTATACCATTGCAGATATCATTTATGGAGCACCTATGTTTGTCAGATAATCTGCACTGTTGTCTTGCTGGAAATCAGCCCCAATTTGTGGCTCAGAGGAAGCATCAGGAAATATTGGCTCTTACTACTACTGTTGTTGATTGCAGGGTACCCACCAGGCTGATCAGTTTCAGCCGTCAACACTGCTGTGTAGTTTCAGGGAGCAGGAAGGAGCCTTCCCCTTTTATAGAAAGCAGCAAGTGTCGTGGAAGGAGCTCTGAACAGGGAAGTGGGAGGCTTGGGTTTGAGTCCCTGTTCTGACTGGCTGTGTGACTTTGGGCAAGTCTCTGCCCCAATCTGGGATACAGTTTCACCATCAGTCTCACTAAGAGGTTGGTGCTCTCTGGAAGACCACATCCTTCCCTAGAAAGGAGATTAGTTTTGGTTTGGGAAGAGGTCTGGTGTTGGGGGAGTTTCTCCAGCTCCCCTGGAACTCCTGTCTCTCCCCTACAG
Seq C2 exon
AAGGATCTGAAGAGCTGGGTCCAAGGGAACCTCACTGCCTGTGGCCGCTCCCTCTTCCTCTTCGATGAGATGGACAAGATGCCCCCAGGCCTGATGGAAGTCCTGCGGCCTTTCCTGGGCTCCTCCTGGGTGGTATACGGGACCAATTACCGCAAAGCCATCTTCATCTTCATCAGGTGGGGCCCGGCTTTGCAGTGGGCACAGTGGGGGGGCCACTTCTCAGAGGTTCAGCTCTACAGCCTTAGCCTGTGCTCCCAGCAGAATCCAGTTCCCCATGGGCTTAGCTGGGCTTTCCCAGTGCCCTCCGCCACTCTCAGAGATGACATTGTCATTCCGCCTGGTTGATTTCCCTTTGGACATTCTCAGCAAATTCTGGGCTCAGTCTTTTTGATCGCCACTTCTTTGTGGAAGCCCTGCCAGGTCAAGAAGTTTTCCCTCTTTTGTGGTGAGGAGGACACAGGCCTGGGAAAAATAGGAACAGAGTTCTTGTCCTTTAGTCCCAGCTCTCAGAATCCTCGCTGTGTTTCCTCAGGCAGCATGGCTCCGCCTCTCTGAGCCTCTGTCTCTGCTTCTGAACAGCGGGGCCAATAATGATGCCCCGATGCCTTCCTGGAAGTTCAGTGAGGGAAAGTCAGTTGAGGGACACAAAAGTGTTTTGTAAACTATAAAGTACGTGGCATGTGTAGGTGAATTACAGGGGCCATGGATGTGGACACCATGGAGGGGGAAGTGGAGCGTTTTCAGTGGAGTTGGCTCCTCCCCGCACTGAGCCATGTTCCTATGTCAGGTGGCAGCGGGGAAGCGAGGGTCCAATCCTGCCCTGCGCTAGTCCTCATCTGAGTCTCAGCCTGGGTCCCCCATGGTTTTAGCAACACGGGTGGCAAGCAGATCAACCAGGTGGCATTGGAGGCGTGGCGCAGCCGGCGGGACCGCGAGGAGATCCTCCTGCAGGAGCTGGAGCCGGTCATCTCCCGCGCGGTGCTGGACAACCCGCACCGTGAGTCTGGCTCAGCAGCCCCCTCCCGGGCAGCTTCACCCCACACCCAGGGGCCAGGCTCTCCCGGGGTCTCATGCTTTGCCCACTGACCCGGCAGTTCTGAGCCTGGCTTTGGCACTCCCAGCTTTGTGACTTTGGGTGAGCCTTACAGCCCCTGAGTCCTACACCCAGAAGGCGGCTGAGGGAACTGAGGCCAGCATTTTTCCTCCTGCCCCTGGGGGTTTGGGGCCGGCTTCTCCCCTCTTGTGAAGCACAAAGTCCCCTCCCCACCTACCCTTCCTGCAGATGGCTTCTCAAACTCGGGCATCATGGAAGAGCGCCTCCTAGACGCAGTGGTGCCCTTCCTCCCGCTCCAGCGGCACCACGTCCGGCACTGCGTGCTCAACGAGCTGGCCCAGCTGGGCCTGGAGCCAAGGGATGAGGTTGTCCAGGCTGTGCTGGACAGCACCACCTTCTTCCCTGAAGACGAGCAGCTCTTCTCCTCCAACGGCTGCAAGACCGTGGCCTCCCGAATCGCCTTCTTCCTCTGACTCTCTGAGTGGTGTCCTCGGCCCCCCTGATGGCCAGGCCATGCAGGAAAGGCCAGGGGCCTCTGTCACAGGAACCCAGAGCACCAAGTGAGATGAACGGAGTGTCGGCTAGGCCACGGGACAGATGGCCAGGAAGGGCCCTGGCCTCTAAACTGGCTCGAGAGCATCTTGGCCCCGGCCACCTTCCCCAGGGAAACCCCTGGTCACCCCAGAACCTCACTGAGCCTTGACCTCCCCCTGCAGCCTGAGCCTTCTTACTGTGAATTATAACTCAGGGACTGTGGCTCGTGGCGGTGCTCCCTCCTCAGTCTGCCACCCTTGCCCCTTGCCTCCTTGGTCGGGCACCATACCTCCTCCCCTCCACCCCACACCCTGTGTCCATATCAAGCCAGGTGGAGCCTTCTCAGTTTCCAGAAATGGAGGGACTCAAGCTGCCACTTGGGCCTGGTTTTAGATGTTTTTAATTTTGTAAAAGAAAACAAGTATAATAAACTCAGCTGTGGGACCAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160404-TOR2A:NM_001134431:1
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
No protein impact description available
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.087
Domain overlap (PFAM):
C1:
PF063096=Torsin=PU(12.7=31.4)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Skipping 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:
CTTTGCGGTAATTGGTCCCGT
Band lengths:
344-1903
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)