HsaINT0148378 @ hg38
Intron Retention
Gene
ENSG00000143379 | SETDB1
Description
SET domain bifurcated 1 [Source:HGNC Symbol;Acc:HGNC:10761]
Coordinates
chr1:150942563-150943053:+
Coord C1 exon
chr1:150942563-150942688
Coord A exon
chr1:150942689-150942851
Coord C2 exon
chr1:150942852-150943053
Length
163 bp
Sequences
Splice sites
5' ss Seq
TTGGTATGT
5' ss Score
7.12
3' ss Seq
TATCTTTCCCTTTTACTCAGGGC
3' ss Score
8.82
Exon sequences
Seq C1 exon
GAACCTTGAGTCAGATGTCTGGAGAACTAAGCAAAGATGGTGACCTGATAGTCAGCATGCGAATTCTGGGCAAGAAGAGAACTAAGACTTGGCACAAAGGCACCCTTATTGCCATCCAGACAGTTG
Seq A exon
GTATGTGCAAACTTGGAGGAACCACTCCTGAAAGGCAACCTGCACCCTCCACTGCTGATTGTTTCTTTTCCCCATAACCTTCCCATTTGTCTCTCACATAGCAGCCTGGATTTATACAGAAACTGGCAGTGTTTAAAAAGATTTATCTTTCCCTTTTACTCAG
Seq C2 exon
GGCCAGGGAAGAAATACAAGGTGAAATTTGACAACAAAGGAAAGAGTCTACTGTCGGGGAACCATATTGCCTATGATTACCACCCTCCTGCTGACAAGCTGTATGTGGGCAGTCGGGTGGTCGCCAAATACAAAGATGGGAATCAGGTCTGGCTCTATGCTGGCATTGTAGCTGAGACACCAAACGTCAAAAACAAGCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143379:ENST00000271640:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.140 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF150571=DUF4537=PU(17.4=48.8)
A:
NA
C2:
PF150571=DUF4537=FE(55.4=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTCAGCATGCGAATTCTGGG
R:
GTCTCAGCTACAATGCCAGCA
Band lengths:
255-418
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