Special

HsaINT0171023 @ hg19

Intron Retention

Gene
Description
torsin family 1, member B (torsin B) [Source:HGNC Symbol;Acc:11995]
Coordinates
chr9:132565432-132566617:+
Coord C1 exon
chr9:132565432-132565690
Coord A exon
chr9:132565691-132566351
Coord C2 exon
chr9:132566352-132566617
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-TOR1B:NM_014506:1
Average complexity
IR-S
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


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
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