Special

HsaINT0171026 @ hg38

Intron Retention

Gene
Description
torsin family 1 member B [Source:HGNC Symbol;Acc:HGNC:11995]
Coordinates
chr9:129808905-129811281:+
Coord C1 exon
chr9:129808905-129809032
Coord A exon
chr9:129809033-129809341
Coord C2 exon
chr9:129809342-129811281
Length
309 bp
Sequences
Splice sites
5' ss Seq
ACAGTGAGT
5' ss Score
8.34
3' ss Seq
AGCTGTGTCTTGTTCTGCAGGTG
3' ss Score
10.72
Exon sequences
Seq C1 exon
CAATGCAGGCGGGGACCTTATAACTAAGACGGCTCTTGACTTTTGGCGGGCCGGAAGAAAGAGGGAAGACATTCAGCTGAAGGACCTGGAACCTGTACTGTCTGTCGGAGTCTTCAATAATAAACACA
Seq A exon
GTGAGTCCACCAGGGTAAAGGAGCCCCTTAACTGTCCAGCAGTGAGCCGTCTGCTCTTTCATTGAGTGTTTCACAAAGCCACAGGATCCCACTGGATTTCCTCACTTTGCTAAAGTCAGGAATTTTCTTAGGGCATACTGTGCTAGAAACCAGTGAGTGAGTGTCCAGCTGAGTCCTGCATGGGCTTGTTGCACACTGACAAGAGACTCTCTCAAGGGGTACGGACATGAGGAATGTGCTGAGGGTCGGGACTGGAGCTTGGCCAGGTGGCGGTGGTGGCAGGAAACCCAGCTGTGTCTTGTTCTGCAG
Seq C2 exon
GTGGCCTGTGGCACAGTGGACTGATCGACAAAAACCTCATTGATTACTTTATCCCCTTCCTGCCTTTGGAGTACAGACATGTGAAAATGTGTGTGAGGGCCGAGATGAGGGCCCGTGGTTCTGCCATAGATGAAGACATTGTCACAAGAGTGGCAGAGGAAATGACGTTTTTCCCCAGAGACGAGAAAATCTACTCAGACAAGGGCTGCAAGACTGTGCAGTCGCGGCTGGATTTCCACTGAGCTCCTATCCAGATGGGGTAGGAGACAGCTGGGAGGCTCCGCACGCCAGAGGCCTTGCCTTTCAGAAGAACCCTGAAGACCGCTTTGGGGTTTTGCCTGTTTGCACCTTAGACTTTTGGGTATAGAATCTTTTTTTTGAGAAGAGGTCTCACTCCGTCATCCAAGCTGGAGTGCAGTGGTGCAATCCTCAACTCACTGCAACCTCCGCTCCCGGTTTGAGTGATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCTGGGATATAGAATCTAAGAGTTGATTGTGGAAAACACGTGAATCTATTGCGCGCATTTGTCATTTAGCAAGATGGCAGCAGTCCAGCTGTTCTTTGCAGCTGGAGATGAACTTTTAAAAATCCCCTTCACACTTAATGTACTGACCGAGACAGAAGTACCTGAAAACAGCTGTGCATGGCAGGCCCGGCAATAGCTTCTGACCCACAGCACCCGCGCCTCAGAAGCTACGGTCACAACTAAAGGAGTCCAGGGACTTGCTGCAGGCTGGGGGGCACTGGGTGGTTCTCACCAGCAGGCTGCGGGGCACTGTGTTCTCATTGGCCAAAAACATCCTTTTGCTCTGTCTCGTTCTTTACACAGAGTTCACTGACTTGAAGTATACTCAGTTAAAATCGGGGCTGGAGGTGCAGACGGTGTCTGACCGGAGGATGTGGCCGTGCCCGCCGAGCACTCTTGATCTGAGCTGACCTGTGTGTGTGTGTGTGGGGGGGTGGGGCCTTCACCTAAGACCTCTGCAGCAGACCTGGACAGACAGGCCCCTCCCGCCTGTCCATCGCTCTAGCTGCTAATACAGCCCTGGCTGTGGAATCCTTCACCGTCTCAGCTGGTATCAGCCCCAGCCTGCCTTGTGCCATATCTCAGCTTGGATCTCTGCTAGAGTCCCCCCAACCATATATCATAGAGTTGAATCACAATGAGACCGTTGGCTTTGAATTTGAGTCGTTGGTTCCCATGGTGAGATGCTTGTTAAGACTTTATACTTGGGTCAATCTCTCACTTTATTTTGTAGAACCATTTGAAATCCTAGGATGTGCTTGTTCTGGAAGGATGACATGGGCCCAGACTGAACAAGTCAGCTTGATGATCTTAAATGATGGAAGTATAGGACGTTGCTTATTTTAAAACAAGGGAAGGACACAAAATGGAATGACTGCTTAGTCCTTTCTCAGATACTCTTAAAACAATTTTTTATTGTTAAATTTGTGGTAATACATGGTCACAACCGTGGATCAAACAAGGTCAGTCTAAAGTGGCAGGTCCTAGGTGTGACCTGATACCACCACCCTTTGTGGCAGCACCGGGCTGGACTGCCCTGATCCCTGGGACGTGAGACTTAGCTTCCAGCCAGTGTGAATCATTGTATCTGTCTCATAATCACAGCACAGCTGCAGACACAACAACGTGCAGCATTTTTTACATAAAAATATGGTAGAATTAATTTATGACATGGAAATGCCTTACGTGGTATCACACTTAGTCTTGAAAAAAACACCAAGGTGACGTTTAAAATTTTTAGTACATATCCTCAAATTGGAGCTAAGTTATACTTCTTTTATAACCTTTTGGGCATCTGGTCGAGAGAAGACAAGATTTTCTCTATTTACAGTGAGGCAATAAATATGTTTGCCACCTTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136816:ENST00000259339:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCGGAAGAAAGAGGGAAGAC
R:
AGCTGTCTCCTACCCCATCTG
Band lengths:
351-660
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