Special

HsaINT0148388 @ hg19

Intron Retention

Gene
ENSG00000136169 | SETDB2
Description
SET domain, bifurcated 2 [Source:HGNC Symbol;Acc:20263]
Coordinates
chr13:50054355-50055252:+
Coord C1 exon
chr13:50054355-50054471
Coord A exon
chr13:50054472-50055082
Coord C2 exon
chr13:50055083-50055252
Length
611 bp
Sequences
Splice sites
5' ss Seq
TGGGTAAGG
5' ss Score
9.08
3' ss Seq
TTTGCATATTTTGTTGACAGCAT
3' ss Score
5.1
Exon sequences
Seq C1 exon
AACAAAATGTGCATGTCTTCAACTGACAGCAAGGAATGCCAAAACTTCCCCCTTGTCAAGTGACAAAATAACCACTGGATATAAATATAAAAGACTACAGAGACAGATTCCTACTGG
Seq A exon
GTAAGGTACCTTGAGGATTTGTTGCAGGGTGTGTATATCTTTGAAGGTGGGTACTTTTTATTGTGGTCCAAAATCTTATAGATGTTAAATCTGGTTTAATTTGGTTCTAATACCAAAAATCTAAATTATTAAGGAATAAAAATCCTGTGTATTGTTCGTGGAAATGGTAGTCAGAGACCACACATACATCATGCAGAGTGTACTTGAACACTCATCTGCTTTGAGTCTGGCTCTTACCCCTCTAGTATCAGCCTACTTTGGGCAGCCATTTCTCCGTTTAAAAATAACTGTCTAGAACTCATTTGAGAATTGGGAATTTTCAACCTTTCAAGGTACTGACTCACTTAATCTTCACAAAGCAGCCCTATGAGGGAGGTATTGTCATATAATCCCCATTTTAAAAATGTGAAGATAAAGCACAGAAAAGTTAAATAACTCATCCAAGATAATACAGCTAGTAAATGTGGAAGCTGTGATGGGAACCCAGGCACTCTACCTCTAAGAGCTTTCACATTTAGCCTGCTTCCCTCAGTAGTTATCAGTGTCAGTGAAGTGTCAATAAACTGCTTTTTGAGATGTCTGATTTTCTCTTTTGCATATTTTGTTGACAG
Seq C2 exon
CATTTATGAATGCAGCCTTTTGTGCAAATGTAATCGACAATTGTGTCAAAACCGAGTTGTCCAACATGGTCCTCAAGTGAGGTTACAGGTGTTCAAAACTGAGCAGAAGGGATGGGGTGTACGCTGTCTAGATGACATTGACAGAGGGACATTTGTTTGCATTTATTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136169-SETDB2:NM_001160308:6
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:
PF0503311=Pre-SET=FE(33.9=100)
A:
NA
C2:
PF0503311=Pre-SET=PD(15.7=31.0),PF0085623=SET=PU(12.2=34.5)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ACAAAATGTGCATGTCTTCAACTGA
R:
CTGAATAAATGCAAACAAATGTCCCT
Band lengths:
286-897
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