HsaINT0148388 @ hg38
Intron Retention
Gene
ENSG00000136169 | SETDB2
Description
SET domain bifurcated 2 [Source:HGNC Symbol;Acc:HGNC:20263]
Coordinates
chr13:49480219-49481116:+
Coord C1 exon
chr13:49480219-49480335
Coord A exon
chr13:49480336-49480946
Coord C2 exon
chr13:49480947-49481116
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:ENST00000354234:8
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=0.000
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
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
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