HsaINT0171024 @ hg19
Intron Retention
Gene
ENSG00000136816 | TOR1B
Description
torsin family 1, member B (torsin B) [Source:HGNC Symbol;Acc:11995]
Coordinates
chr9:132566352-132569642:+
Coord C1 exon
chr9:132566352-132566617
Coord A exon
chr9:132566618-132569466
Coord C2 exon
chr9:132569467-132569642
Length
2849 bp
Sequences
Splice sites
5' ss Seq
CAGGCAAGA
5' ss Score
3.01
3' ss Seq
TTCTTTCATGGTTGGTCCAGGAC
3' ss Score
5.71
Exon sequences
Seq C1 exon
CTCTCAAGCTGGATTTGGAGGAGAAGCTGTTTGGACAGCATCTAGCCACGGAAGTGATTTTCAAGGCGCTGACTGGCTTCAGGAACAACAAAAATCCCAAGAAACCACTGACCCTTTCCTTACACGGCTGGGCTGGCACAGGCAAGAATTTTGTCAGTCAAATTGTGGCTGAAAATCTTCACCCAAAAGGTCTGAAGAGTAACTTTGTCCACCTGTTTGTATCGACTCTGCACTTCCCTCATGAGCAGAAGATAAAACTGTACCAG
Seq A exon
GCAAGAGAACCCGCTATTATCTCGTCTGCAGGCCAGTCGGACTGGTCCGGGTGACCTGCTCACTAACTCTGGCCTCTGCTTCTCTTTCCTTTGTGTTGCTGTAGCCCCCGGCTCCACTGAGTTAAGGCACACTTAGTCCAGGTAGTTACAAAGCTCTCCTACAACATTTCTCTTACTTGGTTCCAAAACAGTCCAGTGGGGTAGGGGATGTTATTTCCATTAAAAGATGGGGAGCCAAGGGCCTGGCGCCGTGGCTCACGCCTGTAATCCCAGCATTTTGGGGAAGCCGAGGCGGGCGGATCATTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCTAAAAGTACCAAAATTACCTGAGCACGGTGGCACGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGTGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACCGTACTCGGTCTCAAAAAAAAAAAAAAAAAAAAGGCCTGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGGGGGCGGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTGAGACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGGATGGTGGCGGGCACCTGTTGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCCTGAACCCGGGAGGCGGAGCTTGCACTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAGAAAAAAAAAAAAAAAAGAGAGATGTAGTCAGGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATCCGCCAAGGCGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTGAAAATACAAAATTAGCCGGGCGTGATGGCGTGCGCCTGTAATTCAAGCTACTTGGGAGGCTGAGGTTGCAGTCAGCTGAGAATGGGCCACTGCACCCCAGCCTGGGCAACAGAATGAGACTCTGTCTCAAAAAAAAAGAAAAAAAAAAAAGATGGAGCCTGGAGCCCAGAGGCAAGGTGACTTACTCCTACAATCTTTGTAGCAGAACAGGACCTTTGTAGCAGAACCAAAACCTCCCAACTCCCAGTTGACATGGTAGCCACCTTCTCTGGTGAGTGAAGGGATTCCACATCCCCAGCAGTGCAGTTGGTGAGAAGGGGCAGTCAGTCTTCAAGGATTTGCTCCGGTGTGGCTTCATTCAATGCTGCCCACCTCTGGTGCAGCCTCAGCTTTGCCTCTGCTCTTTGCAATGTAGCCTAGAGGTCTTTTTTCTCCTTAACAGGTTTTATTCCCTTTGTTCCTCCCATCCTTCATGTCCTTGGCATTGCTTTCTTCAAAGGAAGCCTCAAAGAACTGAACCTTGAGACTGTTTCTCCTTTTGAGATATTGTTTCCACATTCATTTTATATTAAGTTGTCTAGGAGGGTTAGTTCTCATTTAAATGAATGTTGTCCTTGTCAAGGTTAACATTCCCACTGGCAACATAGCAAGACTCCATCTCTACAAAAAATAAAAAAATTAGCCAGGTGTAGTGGCATGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGATGGGAGGATCGCTTGAGCCCGGGAGGCTGAGCCTACAATGAACCATGGTCATGTCACTGCATTCCAGTCTGGGCGACAGAGTAAGACTCTATCTCAAAAAAAAAAAAAAAAAATTCCTCCTGTTAGGTGGGGACTGAAGAAAGAAATAGAAACTTAACTGAACAAGGAAGTAGAAGTGTTTGCCCAACAAACTGACGTGAGACAGGGAAGACTGCTAAAAAGGAAGGAAGGAAGGATTTTCTTGTTCTTTACATTCTTCATAAATCTCCGGAAACAGAGTAATATAAATGGTTGAGGGCATGTCTGGGGGAGTTTCCTGGTATAGCCTTTCACGCTTTGGGGTTGAGGGCTTGTTGCTTGAGTGTCTTTATGTTTGTTTGAAGAAAACATCTGGAACAGATGCTTTTCATGAAATGTCATTGAGTCAGCTCTGTTGGTCTGGGGCACTGTGTACTGTGCAGGTCTTGATCTAGTTCCTTATTCCTCAGTATGTCTGATAGTACTAACTTGAGATTGTAGTCCAAGAGAGATGAAAACTATGGCTACGTTAGCAGTGAATGATATTCACGGATCTTGCCGGGTGGCTCATTCCTGTAATCTCAGCACTTTGGGAGGGTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTGAGACGAGCCTGGCCAACATGGCACAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGCAGGGGATCGGGGCGCCTGTAGTCCCAACTACACGGGGGGCTGAGGCCGGGGAATCGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTACACACCAGCCTGGGGGATAGAGTGAGACCCTGTTTCCAAAGACAAAAAAGAGAAGAAAAGAATCACGGATCTTGTACCTCTTATACCTTTAAAAAGTCAGATTTAATAGTCATTTGAGTTAGGAAAAAACTTCTCTGCATTTTAGCATCTATCTCTGCCAATTTCCACTTTTTAGAGATAAGGTTTTAGAAAAGCTGCTACCTAGCGAGTGGGGGTGAGGGTGCCATTCTAAGAGCTCTGACCTCGTCCTTCAGTGCATGAGGAGCAGATGGAGCCTGCGCGCCTCTTGGTGCACCCTTTGAGCTTCGCATCCTGTTTCTTCTTTCATGGTTGGTCCAG
Seq C2 exon
GACCAGTTACAGAAGTGGATCCGCGGTAATGTGAGTGCATGTGCGAACTCTGTTTTCATATTTGACGAGATGGATAAATTGCACCCCGGGATCATTGACGCAATCAAGCCGTTTCTAGACTACTACGAGCAGGTTGACGGAGTGTCTTACCGCAAAGCCATCTTCATCTTTCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136816-TOR1B:NM_014506:2
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=FE(69.8=100)
A:
NA
C2:
PF063096=Torsin=PD(15.9=33.9)
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:
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
- Genotype-Tissue Expression Project (GTEx)
- 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)