HsaINT0148373 @ hg38
Intron Retention
Gene
ENSG00000143379 | SETDB1
Description
SET domain bifurcated 1 [Source:HGNC Symbol;Acc:HGNC:10761]
Coordinates
chr1:150963530-150964083:+
Coord C1 exon
chr1:150963530-150963741
Coord A exon
chr1:150963742-150963994
Coord C2 exon
chr1:150963995-150964083
Length
253 bp
Sequences
Splice sites
5' ss Seq
AACGTGAGA
5' ss Score
5.13
3' ss Seq
TCCTGTCCTTAAACCTACAGCAC
3' ss Score
7.4
Exon sequences
Seq C1 exon
GTCCAATGAAGCGTCAAGTGGCAGTAAAATCAACCCGAGGCTTTGCTCTTAAATCAACCCATGGGATTGCAATTAAATCAACCAACATGGCCTCTGTGGACAAGGGGGAGAGCGCACCTGTTCGTAAGAACACACGCCAATTCTATGATGGCGAGGAGTCTTGCTACATCATTGATGCCAAGCTTGAAGGCAACCTGGGCCGCTACCTCAAC
Seq A exon
GTGAGACCCCTCTCCCCACCTCTAGATGCTGGATTATCCCATGGTCCTCAGATTTCTTTTAACATACTCTATAAGCCCTTTTCTTGTTATAAACTCTTGATCTCAAAGGATCTTAAAGAGGTAGCTTTCTTTCAAAGCATCTATTATAATGGGGAGGGTCAGATGGCATCATTTTTCTTCCAACTCTCACTCTCCCTGCAAAGCCAGGTTCAGTTTCCCTGGTTCTTATTTGATCCTGTCCTTAAACCTACAG
Seq C2 exon
CACAGTTGCAGCCCCAACCTGTTTGTCCAGAATGTCTTCGTGGATACCCATGATCTTCGCTTCCCCTGGGTGGCCTTCTTTGCCAGCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143379:ENST00000271640:20
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.308 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0085623=SET=PD(19.2=75.0)
A:
NA
C2:
PF0085623=SET=FE(6.4=100)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCAATGAAGCGTCAAGTGGC
R:
GCAAAGAAGGCCACCCAGG
Band lengths:
294-547
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains