HsaINT0171033 @ hg38
Intron Retention
Gene
ENSG00000186283 | TOR3A
Description
torsin family 3 member A [Source:HGNC Symbol;Acc:HGNC:11997]
Coordinates
chr1:179082940-179085893:+
Coord C1 exon
chr1:179082940-179083053
Coord A exon
chr1:179083054-179085627
Coord C2 exon
chr1:179085628-179085893
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:ENST00000367627:2
Average complexity
IR
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