HsaINT0171025 @ hg38
Intron Retention
Gene
ENSG00000136816 | TOR1B
Description
torsin family 1 member B [Source:HGNC Symbol;Acc:HGNC:11995]
Coordinates
chr9:129807188-129809032:+
Coord C1 exon
chr9:129807188-129807363
Coord A exon
chr9:129807364-129808904
Coord C2 exon
chr9:129808905-129809032
Length
1541 bp
Sequences
Splice sites
5' ss Seq
CAGGTCAGC
5' ss Score
7.16
3' ss Seq
TATTTCTCTGGCAAACTCAGCAA
3' ss Score
0.42
Exon sequences
Seq C1 exon
GACCAGTTACAGAAGTGGATCCGCGGTAATGTGAGTGCATGTGCGAACTCTGTTTTCATATTTGACGAGATGGATAAATTGCACCCCGGGATCATTGACGCAATCAAGCCGTTTCTAGACTACTACGAGCAGGTTGACGGAGTGTCTTACCGCAAAGCCATCTTCATCTTTCTCAG
Seq A exon
GTCAGCGGGAGGCGGTTTTTTGGGGCACACAAGCCCTTCATTCTCTCAATGATAAAATGAGGTCCTGAGGACCATCAGCACTTTGTTTACCAGGACGAAAGTGCCTGCTTGGCACAAGGCACTTACCTACTGCTTTACTTTTCCTTTGCCAGTCTCAGCATGGCACACAGTGTGGGTTGTGGAAATGAACTAAAGAAATAATCACTGGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCATGGCGGGCGGATCACCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCATCTACTCGGGAGACTGAGGCAAGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGGGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAATAATCACTGATAGCAGGCAATTTTAGCTGGGCATCGTGGCATGTGCCTGGAGTCCCAGCTCCTGGGGAAGTCGAGGCAGGAGGATTGGTTGAGCCCAGGAGTTCAAGGTTTTATTGAGCTATGATCATACCACTGCACTCCTGCCTGGGTGACAATCAAGACCCCGACCCTAAAAATGAAACAGAAATGAAAACAGTTAATTTTATTAACTGTGCATGTTGGTTTTTAGGGTTATAAAGGGCCATAGCATTATCCCAGCTAGTTGTGAATAAACACTTTAAGTTCCATGAGAGCACACTTTTTTGTCTAGTAGCACTCAGTAAATATTCCTTGATGAAAAATAGATCTTCGGCCGGGTGTGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAGGATTTCAAGACCAGGCTGGCCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAATTAGAAGGGGCGTCGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGAAGAATCACTTGAACCCGGAAGGTGGAGGTTGCAGTGAGCTGATATTGCGCCACTGCACTCCAGCCTGCGTGACAGAGTGTCTCAAAAGGAAAAATAGACTTAGAGCAGATTCATTTCTTGGTAAGACACAGAAGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACCGAGTTTCATTTTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCGCTGCAACCTCCACCTCCCGGATTCAAACGATTCTCCCACCTCAGCCTCCCATGTAGCTGGGATTACAGGCATGCACCACCATTAGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTACTCTATGTTGGTCAGGCTGGCCTTGAACTCCCGACCTCAGGTGATCTACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCAGCAGACACAGAAGTCTTAATATGTGATTTTAATCTTTATTTCTCTGGCAAACTCAG
Seq C2 exon
CAATGCAGGCGGGGACCTTATAACTAAGACGGCTCTTGACTTTTGGCGGGCCGGAAGAAAGAGGGAAGACATTCAGCTGAAGGACCTGGAACCTGTACTGTCTGTCGGAGTCTTCAATAATAAACACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136816:ENST00000259339:3
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=PD(15.9=33.9)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGTTACAGAAGTGGATCCGCG
R:
ATTATTGAAGACTCCGACAGACAGT
Band lengths:
294-1835
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains