HsaINT1044907 @ hg38
Intron Retention
Gene
ENSG00000136827 | TOR1A
Description
torsin family 1 member A [Source:HGNC Symbol;Acc:HGNC:3098]
Coordinates
chr9:129822581-129824134:-
Coord C1 exon
chr9:129823908-129824134
Coord A exon
chr9:129822847-129823907
Coord C2 exon
chr9:129822581-129822846
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
ACCGGTTCGCGGTCGGCGCGAGAACAAGCAGGGTGGCGCGGGTCCGGGCATGAAGCTGGGCCGGGCCGTGCTGGGCCTGCTGCTGCTGGCGCCGTCCGTGGTGCAGGCGGTGGAGCCCATCAGCCTGGGACTGGCCCTGGCCGGCGTCCTCACCGGCTACATCTACCCGCGTCTCTACTGCCTCTTCGCCGAGTGCTGCGGGCAGAAGCGGAGCCTTAGCCGGGAGG
Seq A exon
GTAGGCTGGGGCGGGGGCTGGAGGCTGGGGCTGGGGCTGGGGCTGGGCGATGGCACTAGGGCTGAACTAGGACCAGGGCATGGAGAATGGAGGATGGAGGCCGGGGGATGGCACCAGGGCCGGGCTAGGACTAGGGCTGGAGCGGGGCCTGGGGGCTGGGGCTGGGCGATGGCACTAGGGCCGGGTTGGGGCTGGGGCTGGGGCTGGGGGATGGAGCGGGGCCCGGGGGCTGGGGGTGGGGCTGGGGGATCGCACTAGGGCTGGGTTAAGACCAGGGCGGTTGGCTGGGGCTAGGGGATTGAGGATGGTGGATGGAGGCTGGGGGATGGCAGTAGGGCCGGGCTAGGACTGGGGCTGGAGCGGAGTTTGGGGGCTGGGGCTCAGGAGCGGGGGCTGGGGCTGGGGCTGGGGCTGGGGGATGGCACTAGGGCCAGGCCGGGGTAGGGGTCACATCCCAGGAGGGCCGGGCCTGGGCAGAGCTGAGTCCGCGGGGGCCGGACCCCGGAAGCCAAGCGGCCGGCCTGCAGGATGAGGCCTGGCTCCTCGGCCATGACCACAGACGTGCCAGACTTAAGTCGGAGACCTGAGGAGCCAGGCTGCAGGTTGGCCTACTTTGCGCTAAGCTGGGGGTGGACCAGTGGTAACCTCCCTCCGAAGTGGGTTCTGCCTCCTTTCTAGCCTAGCGGGAGACAGGAAGGATGGTGAGGACTCTTCCGCAGCCGACCAGGAGGGACCAAACTGTTTCCTTTCCCGGCTCTGCCTTGGGGTGGGAGGAGCAGCACAGGGGTTAGGGGTGCAAACTGGTGGCAGTGGCAGTGGCACCAAGGGGCTTTTCGGGAAGGAGTCGGGCCAGGGCTTTAGAATAGGCAGGACCAGCAAAGGGAGGGCTCCCTGGACCGCCGTCCCCTCTGGGCCAGGAGCTTACAGACCGCAGTACTTGAGGTTTCGCAAGGTGCTTGGAGGGCGTCTAGACGGCTTTGCTGGCTTTCTTATGGGCTGTAAATGTGGCTACATTTTGCCGCTGTTTCTTCCCCACTCCTGATTGGCTTTGTCTTTCCCAG
Seq C2 exon
CACTGCAGAAGGATCTGGACGACAACCTCTTTGGACAGCATCTTGCAAAGAAAATCATCTTAAATGCCGTGTTTGGTTTCATAAACAACCCAAAGCCCAAGAAACCTCTCACGCTCTCCCTGCACGGGTGGACAGGCACCGGCAAAAATTTCGTCAGCAAGATCATCGCAGAGAATATTTACGAGGGTGGTCTGAACAGTGACTATGTCCACCTGTTTGTGGCCACATTGCACTTTCCACATGCTTCAAACATCACCTTGTACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136827:ENST00000351698:1
Average complexity
IR
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=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
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]
SPECIAL DATASETS
- Autistic and control brains