HsaINT0171004 @ hg19
Intron Retention
Gene
ENSG00000136827 | TOR1A
Description
torsin family 1, member A (torsin A) [Source:HGNC Symbol;Acc:3098]
Coordinates
chr9:132584860-132586441:-
Coord C1 exon
chr9:132586187-132586441
Coord A exon
chr9:132585126-132586186
Coord C2 exon
chr9:132584860-132585125
Length
1061 bp
Sequences
Splice sites
5' ss Seq
AGGGTAGGC
5' ss Score
7.26
3' ss Seq
ATTGGCTTTGTCTTTCCCAGCAC
3' ss Score
8.26
Exon sequences
Seq C1 exon
GAACCGGAAGCGTGGGTCTGGCGGCTGCACCGGTTCGCGGTCGGCGCGAGAACAAGCAGGGTGGCGCGGGTCCGGGCATGAAGCTGGGCCGGGCCGTGCTGGGCCTGCTGCTGCTGGCGCCGTCCGTGGTGCAGGCGGTGGAGCCCATCAGCCTGGGACTGGCCCTGGCCGGCGTCCTCACCGGCTACATCTACCCGCGTCTCTACTGCCTCTTCGCCGAGTGCTGCGGGCAGAAGCGGAGCCTTAGCCGGGAGG
Seq A exon
GTAGGCTGGGGCGGGGGCTGGAGGCTGGGGCTGGGGCTGGGGCTGGGCGATGGCACTAGGGCTGAACTAGGACCAGGGCATGGAGAATGGAGGATGGAGGCCGGGGGATGGCACCAGGGCCGGGCTAGGACTAGGGCTGGAGCGGGGCCTGGGGGCTGGGGCTGGGCGATGGCACTAGGGCCGGGTTGGGGCTGGGGCTGGGGCTGGGGGATGGAGCGGGGCCCGGGGGCTGGGGGTGGGGCTGGGGGATCGCACTAGGGCTGGGTTAAGACCAGGGCGGTTGGCTGGGGCTAGGGGATTGAGGATGGTGGATGGAGGCTGGGGGATGGCAGTAGGGCCGGGCTAGGACTGGGGCTGGAGCGGAGTTTGGGGGCTGGGGCTCAGGAGCGGGGGCTGGGGCTGGGGCTGGGGCTGGGGGATGGCACTAGGGCCAGGCCGGGGTAGGGGTCACATCCCAGGAGGGCCGGGCCTGGGCAGAGCTGAGTCCGCGGGGGCCGGACCCCGGAAGCCAAGCGGCCGGCCTGCAGGATGAGGCCTGGCTCCTCGGCCATGACCACAGACGTGCCAGACTTAAGTCGGAGACCTGAGGAGCCAGGCTGCAGGTTGGCCTACTTTGCGCTAAGCTGGGGGTGGACCAGTGGTAACCTCCCTCCGAAGTGGGTTCTGCCTCCTTTCTAGCCTAGCGGGAGACAGGAAGGATGGTGAGGACTCTTCCGCAGCCGACCAGGAGGGACCAAACTGTTTCCTTTCCCGGCTCTGCCTTGGGGTGGGAGGAGCAGCACAGGGGTTAGGGGTGCAAACTGGTGGCAGTGGCAGTGGCACCAAGGGGCTTTTCGGGAAGGAGTCGGGCCAGGGCTTTAGAATAGGCAGGACCAGCAAAGGGAGGGCTCCCTGGACCGCCGTCCCCTCTGGGCCAGGAGCTTACAGACCGCAGTACTTGAGGTTTCGCAAGGTGCTTGGAGGGCGTCTAGACGGCTTTGCTGGCTTTCTTATGGGCTGTAAATGTGGCTACATTTTGCCGCTGTTTCTTCCCCACTCCTGATTGGCTTTGTCTTTCCCAG
Seq C2 exon
CACTGCAGAAGGATCTGGACGACAACCTCTTTGGACAGCATCTTGCAAAGAAAATCATCTTAAATGCCGTGTTTGGTTTCATAAACAACCCAAAGCCCAAGAAACCTCTCACGCTCTCCCTGCACGGGTGGACAGGCACCGGCAAAAATTTCGTCAGCAAGATCATCGCAGAGAATATTTACGAGGGTGGTCTGAACAGTGACTATGTCCACCTGTTTGTGGCCACATTGCACTTTCCACATGCTTCAAACATCACCTTGTACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136827-TOR1A:NM_000113:1
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
No protein impact description available
No structure available
Features
Disorder rate (Iupred):
C1=0.033 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF063096=Torsin=PU(12.7=26.7)
A:
NA
C2:
PF063096=Torsin=FE(69.8=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
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:
CGTCCTCACCGGCTACATCTA
R:
AAGGTGATGTTTGAAGCATGTGG
Band lengths:
342-1403
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)