HsaINT0171033 @ hg19
Intron Retention
Gene
ENSG00000186283 | TOR3A
Description
torsin family 3, member A [Source:HGNC Symbol;Acc:11997]
Coordinates
chr1:179052075-179055028:+
Coord C1 exon
chr1:179052075-179052188
Coord A exon
chr1:179052189-179054762
Coord C2 exon
chr1:179054763-179055028
Length
2574 bp
Sequences
Splice sites
5' ss Seq
CAGGTTGGA
5' ss Score
5.59
3' ss Seq
TACCTCTTTCCTGTCCTTAGGCT
3' ss Score
10.73
Exon sequences
Seq C1 exon
GCTGGCGCCTTCCTCTGTTGGGCCAGCGGTACCTGGACCTCCTGACCACGTGGTACTGCAGCTTCAAAGACTGCTGCCCTAGAGGGGATTGCAGAATCTCCAACAACTTTACAG
Seq A exon
GTTGGACCCCGCATGGCTTCAAGGGGCTAGGGATCTGTGGGGAGGGGAGGCAGTCCAGGGGAAATGGTTAGATGCAAGGGACCTTTCGTCATCCTGCCCAGCCTCCCGACAAGCAGGAACTGCCACAGTCTGACTGAAGTTTTGAGGGAGTACCAAATGCTTGAGTCAGGGAAGCCCCTTTTTAGCCTCTAGCTTAATAGCCCAGGCAAACTGAGCTGTTTGTCAGGCCCAGAGCACCTTGTTTCACTCTAAACAGAAACAGCTACCTCTCAGAGGGGGCTGGAACTATCCAGAGAGAACTGATCAGAAATTCTGGGTTGTGATTAAAAGTGTCCCTTTCTTTTCTTTTTTTTTTTTGAGACGGAGGCTTGCTCTGTCACCCACACTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCACCCTCCGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACGTCCGGCTAATTTCTGTATTTTTAGTAGAGGCGGGGGGGGGGGGGGGGGGCGGGTTTCACCATGTTGGCCAGGCCGGTCTCGAACTCCTGACCTTGTGATTTGCCTGCCTTGGCCTCCAAGAGTGCTGTGATTACAGGCGTGAGCCACTGTGCCATGGCAACCAGTATTTTCTAATTAGTTTGGGTTGCTTGATTTGCATATCGCAGTTGATTTGCATTTTCACTCTCACAAGGTGATCTTTGGCCCCATGTTCTGAAACCTGTTCAGACATTTGCAAAAGCTTCCTCTCTTTTCCCCAGGAGCAATTTCTTGCCCAGAGTTCTCCTGATCCCAGGTCCTTCAATCTCCATAAATGAGGCCCACCCCAGATATTTAGGTCACTTAATTGGCCAAAATGCCAATAACACAGTGTGTTTAGGGACACAGTCTGGCTCAGGACAGAAGATAGGACTACATACAGGTCAGGAAGTCTTAATTTGGATCACTGCTGACTTGGATAAGACCCTAGGTAGCAATTAGCAAGTTACTTTCTGTCCTCAACATGCCTTTTGTTCGACAAGGGCCTGGATATCCAAATTGTTCTGGCCAGCGGATTGGAGACCCCTCCTAGTCGTGCCTCTTCCTTGCTGGCAAACTGAAGAGTCCTTCCCAAGTGTCCGTTTCCTCAGCTGTATTTTATTTTATTTTTTTTACTTATTTATTTTGAGACCAAGTCAGTCTCTGTCACCTAGGCTGGAGCAATCTCGTCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCGATTCTCTTCCCTCAGCCTCCCGAGTGGCTGGGATTATAGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAGGCGGGAACCACCTCGCCCAGCCAGTTTCCTCAGCTTTAAATGGGAATAATAATGCCTGCCTTGCAGAATTGTGAAGACCAAATGTAAAACACTTAGCCCAGTTCTGAATACAGAGAAAAAAGCAGCAAATGTTAATTTTCTTCTATGTCACTACTACTTTTGGAGCAATGTGTGATGCCCTCAATGTTTTATCATAGACCTTGACCTCCCAAGGCTCCAGAATACCTGCTCTGGGCTGGCTTAAGGTGTTCAACCAATTGATCCTGGATTTGGAATGCTCACCCACAGCTGGCCGCACACCCTGCCTGTCTGCACTGTGGCTCCTGGTAGCGCCATCTCCAAATCCTACAACCTCACGTCTGACAGGAGGAAGTTAGACCTAGCAGAAGGCTTTGCACACTGGAGCTGCTCTCACCAAGTGTTGGCTGAATTGAATGAGAATGAATAAAATCAGGCTTCTCCATAAAACAGGGAGCCCTGAAACCAAGGGATGGGAGCAGCCTCAGGACATGGGGGACAGGGTTCCTCCCTAGACAGGTCTGTGCCAACTGTTCTGGGTATCTGCAGGATCTTTAGGAAGGGTGATTCCACTCTCCCTGAGTCCCATCTTGATTTCCCAAACTCTTCAAAAAGTAGTCCTTGAGGCTGGGCGCAATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCTCGAGGTCAGGAGTTCAAGACCAGCCTAGCCAACCTGGTGAAACCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTATGGTGGTGGGCACCTGTAATCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGTAGTCCTTGAATCCCTTCTGCTACAAAGTCTGCCCTCTGGCTTCTTATTCTAAGGCCAAACAGGAGGAGTAACTGATTCCACCCGAGAGAGATTCAGAGTTGCTTGGTTTCTTGGCTGTTGGCTGTTGTGGTGGATGGGCCTGTGTGTGCCTTTTGCTGTGACTACCTCTTTCCTGTCCTTAG
Seq C2 exon
GCTTAGAGTGGGACCTGAATGTGCGGCTGCATGGCCAGCATTTGGTCCAGCAGCTGGTCCTAAGAACAGTGAGGGGCTACTTAGAGACGCCCCAGCCAGAAAAGGCCCTTGCTCTGTCGTTCCACGGCTGGTCTGGCACAGGCAAGAACTTCGTGGCACGGATGCTGGTGGAGAACCTGTATCGGGACGGGCTGATGAGTGACTGTGTCAGGATGTTCATCGCCACGTTCCACTTTCCTCACCCCAAATATGTGGACCTGTACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186283-TOR3A:NM_022371:2
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF063096=Torsin=PU(14.7=48.7)
A:
NA
C2:
PF063096=Torsin=FE(68.2=100)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- 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)