Special

HsaINT0148381 @ hg38

Intron Retention

Gene
ENSG00000136169 | SETDB2
Description
SET domain bifurcated 2 [Source:HGNC Symbol;Acc:HGNC:20263]
Coordinates
chr13:49485630-49488630:+
Coord C1 exon
chr13:49485630-49485723
Coord A exon
chr13:49485724-49488289
Coord C2 exon
chr13:49488290-49488630
Length
2566 bp
Sequences
Splice sites
5' ss Seq
AAAGTAGGC
5' ss Score
5
3' ss Seq
CCTTCCAAAATGTCTATTAGAGG
3' ss Score
3.02
Exon sequences
Seq C1 exon
GAATTTGTTTCCTCGGAGTCTGTCACTCCAGAAGATAATGATGGATTTAAACCACCCCGAGAGCATCTGAACTCTAAAACCAAGGGAGCACAAA
Seq A exon
GTAGGCTTTGTTTCTTCTGTGAATGCCTACCTCTTCTGCCTGTTTCTCTGTCTCTTGCTCAATACCTGTAGCTCATTTTCTTAGATTCCATAATAAACATGCTGCATTTGTCAGAAAGGTTACAACTTGTCTACATAAGAGATCAGCAAAATATCGTGTGTGGGCCAAATCTGGCCCTCTACCTGTTCAGTATGGCATGTGAGCTAAGAATGATATTTATGTTTTTAAATAGTTGAAAAAAATCAGAAGGTGATAATATTTTGACACTTGAAAATTATATGAAATTACAATTTTAGTGTCCAGAAATAAAGTTTTGGCCAGGTGCAGTAGCTCACGCCCGTAATCTTAGCACTTTGGGAAGCCAAGGCAGGAGGGCTGCTTGAGGCTATGAGTCTGGGCAATGTAGCAAGATCTTGTCTCAACAACAACAAAATAGCCAGGTGTGGTGGTGCACACCTGAGGTCTTAGCTACTCAGGGGGCTGAGGTGGGAGGATTGTTGAGGTCAGGAGTTTGAGGTTACAGTGAACTATGATTGTGCCACGGTACTGCAGCCTGGGCGATAGAACAAGACCCTGTCTCAAAAAAAAAAATAAAATGTAAGTTTTATTGGAATACAGCCAATTTACATTATATATTGTCTGCTTCAACATTACAGCAAGAGTTGAATAATCACAACAGAGACCACCACATGGCCAGCAAAGCCTGAAATATTTGCTATTTTGCCTTCTGCAGGAGAACTTTGCTGACCTCTGGTCTAATTGCCAGTAGTGACTTGATGCATGACAAGAGGGGTGGGCTGGAAAACTCTTGAGTCTTTGTGGTGCACAGGTGTTGTCCGTGGCTTTGGAACCATTGTGCAAAGCAGCCACTTTCAAACTCTTTGTAGACGCCTTTAAAAATAAACACACATCACTTTCCTGCAATTGCCTAGCCAATACTGCCGCAGAGCATACTCAGCTTGACTCTGGCAAAAGGCTAAAATATTGCCACCCTGAGTCCTTGTGTTTCAGAGTTACTAGTCCTTGCCATAGTTAATATTACAACTGGACAAACATTGTTTTTGGTACTTTTGCATTTCACTGTGTCCTTCACAAGGAGACATTGCTGAGAGATATCCGTTTGTGAAGAATTGGTGAGCCACTGCTGTCTCTTCCCCCCTGCAACCGCAGCTCTCCACCTAATATTAAAGGATGGAGATTGGAGGAGACATGGCAGTTCCTTGATAGAAAAGGTCTATCAAAAAAGGGGATTTTGTGTATTATATTTATTTTATCATGCATGTGAGCCACAGTGCATACCGTTGCTTTTGGTTCTTTTGCCCTTTTCATTGACTGCTACAATATATATAGCGGGTACTCCAAAAGTCAAAAGCTACATACTTTTTGTATAAAAAAATCCAAAGTTGTATTATGGCTTACACGTAACCCATGATTAAAATATAAGTACATATAGGAACAGCAGCCAGCAACAACAGTGATGATTAAATCAAGAGCCTCAATTTTAGACAAGTATAATTTCTTTGCGCCATTGAATTAGGTGGTCCAAATAGCTTTGTGGCTCTTTTAAAGTAAGTAATTTATACTTACTCCATCTGACATGCATTCATATCTTTTCTTTTTTTTTTAAAGAGAGACAGCGACTCATTCTGTCACCCAAGCTGGAGTGCAGTGGTGGGATCATAGCTCACTGTACCTTCCAATTCCTGGGCTCAAACAGTCCTCCCACCTCAGTCTCCTGAGCAAACAGGACTACAGGCACACACCCCCTTGTTGGCTAATTTCTTTTTTTTAAAATTTTTTGTAGAGATGGGGTCTCACTTTGTTGCCCAGGCTGGTCTTGAATTCCTGGCCTCAAGCATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCATATTCATACTCTTGAATACTCTCAAAAAATTATTTTCCTTATTGGATAAGAAAAACGATTAAGCAGTGCATCTGCTTTTAAAGGATTATTGTTTACAAAGGTGTAATTATTGAATGGTCATCTAGTAAAACACCAAACACTAATATGTGCAAAACCCCTAGCAATACAGTTGTCACTGCTGGGACTTGTGGAAGGTGTCTCTGTCAGGGTTAGGCCTTTTATTGGCAGCATAAAGGCCTAGAGTGCCTCCAAAACACCCACTCTGTTACATTTGTTTAGAATATACTTAAGTGCAGATTCCAGAATTAAAGAGAAGAAAGTCAGTTTATTATGAGTAGAGATTAAATATAATAATGAAGAAGCAAGATGTAGATTCATAAAAAGGCATTGTTACGTAGTAGAAAGAAGGCAGACTTTGGGATTCAAACATTTCTAGGTTTGTTACCCCAGTTCTCGTTATTGTGGGTCAGATGAATTCCTTAATCCCTCAGAGAAAGTTTCCTTTATACAATTAAAATAATACTACCTGCCTAACACATTGTAAGGATCGATAATTAAAGCACCTAGCATCTAATTAGTGTTGTTAATTTCAGCACTATTGCTCAGCAAGTATATTTCCTGATGTTTCCTTCCAAAATGTCTATTAG
Seq C2 exon
AGGACTCAAGTTCAAACCATGTTGATGAGTTTGAAGATAATCTGCTGATTGAATCAGATGTGATAGATATAACTAAATATAGAGAAGAAACTCCACCAAGGAGCAGATGTAACCAGGCGACCACATTGGATAATCAGAATATTAAAAAGGCAATTGAGGTTCAAATTCAGAAACCCCAAGAGGGACGATCTACAGCATGTCAAAGACAGCAGGTATTTTGTGATGAAGAGTTGCTAAGTGAAACCAAGAATACTTCATCTGATTCTCTAACAAAGTTCAATAAAGGGAATGTGTTTTTATTGGATGCCACAAAAGAAGGAAATGTCGGCCGCTTCCTTAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136169:ENST00000354234:12
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.927 A=NA C2=0.401
Domain overlap (PFAM):

C1:
PF0085623=SET=PD(20.7=61.8)
A:
NA
C2:
PF0085623=SET=FE(35.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
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