Special

HsaINT0148367 @ hg38

Intron Retention

Gene
ENSG00000143379 | SETDB1
Description
SET domain bifurcated 1 [Source:HGNC Symbol;Acc:HGNC:10761]
Coordinates
chr1:150959178-150961191:+
Coord C1 exon
chr1:150959178-150959347
Coord A exon
chr1:150959348-150960562
Coord C2 exon
chr1:150960563-150961191
Length
1215 bp
Sequences
Splice sites
5' ss Seq
CAGGTTGGT
5' ss Score
8.08
3' ss Seq
TTAATTCTCTTCATTCTCAGGCA
3' ss Score
8.72
Exon sequences
Seq C1 exon
GGTATATGAGTGTAACAAACGCTGCAAATGTGACCCAAACATGTGCACAAACCGGTTGGTGCAACATGGACTACAAGTTCGGCTACAGCTATTCAAGACACAGAACAAGGGCTGGGGTATCCGCTGCTTGGATGACATTGCCAAAGGCTCTTTTGTTTGTATTTATGCAG
Seq A exon
GTTGGTGATAAAATATAAGGGTTGTTTCCTGAGACTGGGACATGGTAGGGAATTGAACCAGAGACAAATTGAACATAAGAAGAAAGTGCTTGACATGTGAACTGGAGTAAGAGGAGGCCAGGGACTTCTACAAAGAACGTGATGAGTGATGTACCTGTCTAGCTAGACCAGAGAGGGACACAAGTGTTTCACAAATAAGAGAATGAAAAGGGATGAAATTTTGGACATGGTGATATTTCAGAGAACAGACATGATTATAGAGTCCAGTGTATCATTTTCTCCCATGTCACTCCACTCAGAGATCTTTTAGCATAGCCCAGTACTCTGTTTCAATAAAGTAGAAGAAATGGAAAGACAGAAAGGGCAAGATTTAAAATGACAGTAAGTTCTCCATACTTTCATAGTTAAGATACAAAGGGAGGTATTATCAAAGAGAAACACTGGGCCGGCGTGGTGGCTCATGCCTGTAATCCCAAAACTTTGGGAGGCCGAAGTGGGTGGATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATAGTTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGGATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTTGAGGCAGAGATTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAAAAGCGAAACTCTGTCTCAAAAACAAAACAAAAAAAAAAACAGAAATGAGAGACCAGAATGGAGGCTTTTTGACTCTATATGCTGGTAGAGCGGGTATTGATGGAATAATCCTTATTCTTTCTAATAGGTCCCCGTGGCCGGGTGCGGTGGCTAACACCTGTAATCCCAACACTGTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACGCCATCTCTACCAAAAATACAAAAAAAATTAGCCAGGCATGGTGGCGTGCACCTGTAGTCCTATCTACTCAGGAGGCTAAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTGGAAAAAAAAAAAAAAAAAAGCAAACAAAAAAAAAAACTAATAGGTCCCCATAACCCTAGAAGGCCTTTAATTCTCTTCATTCTCAG
Seq C2 exon
GCAAAATCCTGACAGATGACTTTGCAGACAAGGAGGGTCTGGAAATGGGTGATGAGTACTTTGCAAATCTGGACCATATCGAGAGCGTGGAGAACTTCAAAGAAGGATATGAGAGTGATGCCCCCTGTTCCTCTGACAGCAGTGGTGTAGACTTGAAGGACCAGGAAGATGGCAACAGCGGTACAGAGGACCCTGAAGAGTCCAATGATGATAGCTCAGATGATAACTTCTGTAAGGATGAGGACTTCAGCACCAGTTCAGTGTGGCGGAGCTATGCTACCCGGAGGCAGACCCGGGGCCAGAAAGAGAACGGACTCTCTGAGACAACTTCCAAGGACTCCCACCCCCCAGATCTTGGACCCCCACATATTCCTGTTCCTCCCTCAATCCCTGTAGGTGGCTGCAATCCACCTTCCTCCGAAGAGACACCCAAGAACAAGGTGGCCTCATGGTTGAGCTGCAATAGTGTCAGTGAAGGTGGTTTTGCTGACTCTGATAGCCATTCATCCTTCAAGACTAATGAAGGTGGGGAGGGCCGGGCTGGGGGAAGCCGAATGGAGGCTGAGAAGGCCTCCACCTCAGGACTAGGCATCAAGGATGAGGGAGACATCAAACAGGCCAAGAAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143379:ENST00000271640:15
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=0.767
Domain overlap (PFAM):

C1:
PF0503311=Pre-SET=PD(15.7=31.0),PF0085623=SET=PU(4.4=34.5)
A:
NA
C2:
PF0085623=SET=FE(46.1=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGAACAAGGGCTGGGGTAT
R:
CATAGCTCCGCCACACTGAAC
Band lengths:
347-1562
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains