HsaINT0171023 @ hg38
Intron Retention
Gene
ENSG00000136816 | TOR1B
Description
torsin family 1 member B [Source:HGNC Symbol;Acc:HGNC:11995]
Coordinates
chr9:129803153-129804338:+
Coord C1 exon
chr9:129803153-129803411
Coord A exon
chr9:129803412-129804072
Coord C2 exon
chr9:129804073-129804338
Length
661 bp
Sequences
Splice sites
5' ss Seq
CGGGTACGG
5' ss Score
8.92
3' ss Seq
TTCTGGGGCTGTTCTTGCAGCTC
3' ss Score
7.48
Exon sequences
Seq C1 exon
TCCTGCCGCTTGGCCGCGGGGCGCCTGGCTCAGTGGCTTCTGCGGGCTTCGAGGAGCGGGATGTTGCGGGCTGGGTGGCTCCGGGGCGCGGCGGCGCTGGCGCTGCTGCTGGCGGCCCGAGTGGTGGCGGCGTTCGAGCCCATCACCGTGGGCCTAGCCATCGGGGCCGCGTCGGCCATCACCGGCTACCTGTCCTACAATGACATCTACTGCCGCTTCGCCGAGTGCTGCCGCGAGGAGCGGCCGCTCAACGCTTCGG
Seq A exon
GTACGGCGCGCGCGCGAGCTGTGGGTCGGCGCTGCGGGGGGCGCGGGGGCGCGGGGGCGCGGAGGGACGGCCTCGTGGGCGCCTGGCACGGACCGGGCCCGTGGCATCTAGACGGCGGTGGTCCCAGCTGGGGTGGGCGGGGAGCGGATGGGGCGGCCCCGGAACCGTTCGCGGGAACGCAGAAGCGGTGCCTTCGCAAACAGTCTCCAGATCGTGGGGCTGCCCCAGCGCCTTTCTAAAGCTCCCGTTCCTTGGGATCACAGGTGGAAGAAACGGAAAGTAGGCGGGCGGCCCTTCTGCGCCCTGCCAACCCTATTAAGTAGTTTTCAGACGTGCTGCGTCGCCCAGAAAGCCCACATTTGGCCCCTGGTTTTCCTGCAGGTCAGCAAGGGTGGCTGGGATTAGCAAGCGCTCAGTCAAGCGATGGTTCATCTCTGAATGAATGAACATTTAGCTTCCTTATCAGACCCCGAAGCGTTAAGGACCTCCACATAATCTTGAAAGTGGCATCGTTTGACTGCCTCGGCCCTAGGGTGTGGCAGACACCCTGCTGTGTCCCTGGATAATCTGTGCTTCTTGCTTTGGCCAGCTAAGAAAGTGCTGCGTTGCTGATGCATTTTTAAGGTCTGTTTCTCTCTTTGTTCTGGGGCTGTTCTTGCAG
Seq C2 exon
CTCTCAAGCTGGATTTGGAGGAGAAGCTGTTTGGACAGCATCTAGCCACGGAAGTGATTTTCAAGGCGCTGACTGGCTTCAGGAACAACAAAAATCCCAAGAAACCACTGACCCTTTCCTTACACGGCTGGGCTGGCACAGGCAAGAATTTTGTCAGTCAAATTGTGGCTGAAAATCTTCACCCAAAAGGTCTGAAGAGTAACTTTGTCCACCTGTTTGTATCGACTCTGCACTTCCCTCATGAGCAGAAGATAAAACTGTACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136816:ENST00000259339:1
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=23.9)
A:
NA
C2:
PF063096=Torsin=FE(69.8=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCGAGGAGCGGGATGTTG
R:
CAGCCGTGTAAGGAAAGGGTC
Band lengths:
343-1004
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains