HsaINT0148365 @ hg38
Intron Retention
Gene
ENSG00000143379 | SETDB1
Description
SET domain bifurcated 1 [Source:HGNC Symbol;Acc:HGNC:10761]
Coordinates
chr1:150950458-150951481:+
Coord C1 exon
chr1:150950458-150951090
Coord A exon
chr1:150951091-150951364
Coord C2 exon
chr1:150951365-150951481
Length
274 bp
Sequences
Splice sites
5' ss Seq
CAAGTGAGT
5' ss Score
9.1
3' ss Seq
TATTTCCCTCTGTCATATAGGTC
3' ss Score
8.56
Exon sequences
Seq C1 exon
ATCACCTTTAGGCTCCACAGCCTCTGCCCCAGCACCCTCAGCACTCCCGGCCCCTCCAGCACCCCCAGTCTTCCATGGCATGCTGGAGCGGGCCCCAGCAGAGCCCTCCTACCGTGCTCCCATGGAGAAGCTTTTCTACTTACCTCATGTCTGCAGCTATACCTGTCTGTCTCGAGTCAGACCTATGAGGAATGAGCAGTACCGGGGCAAGAACCCTCTGCTGGTCCCGTTACTATATGACTTCCGGCGGATGACAGCCCGGCGTCGAGTTAACCGCAAGATGGGCTTTCATGTTATCTATAAGACACCTTGTGGTCTCTGCCTTCGGACAATGCAGGAGATAGAACGCTACCTTTTCGAGACTGGCTGTGACTTCCTCTTCCTGGAGATGTTCTGTTTGGATCCATATGTTCTTGTGGACCGAAAGTTTCAGCCCTATAAGCCTTTTTACTATATTTTGGACATCACTTATGGGAAGGAAGATGTTCCCCTATCCTGTGTCAATGAGATTGACACAACCCCTCCACCCCAGGTGGCCTACAGCAAGGAACGTATCCCGGGCAAGGGTGTTTTCATTAACACAGGCCCTGAATTTCTGGTTGGCTGTGACTGCAAGGATGGGTGTCGGGACAA
Seq A exon
GTGAGTTGGTGGGGGGAATTGCTGCCCCTGCTTCCAACTTTGTTATGGTGTCTGTTTCACCTCTTCCTTTGCCTTGTATCTGTACTGCTTTCCCCATCTTCCTTTACCTCCTCCCTCACCTGGAACTCCTGCTATAAGGCCTCCATGAAAGCTATGAGGTAGGGAGGCTGGAGTCTGACATGGCCACACTGAGCAACCTTGGGTACATGTGTATTGTGTTATTTTTGTTCTCTGATCCCCCCGCTCCTTTCCTTTATTTCCCTCTGTCATATAG
Seq C2 exon
GTCCAAGTGTGCCTGCCATCAACTAACTATCCAGGCTACAGCCTGTACCCCAGGAGGCCAAATCAACCCTAACTCTGGCTACCAGTACAAGAGACTAGAAGAGTGTCTACCCACAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143379:ENST00000271640:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.162 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0142914=MBD=WD(100=35.4),PF0503311=Pre-SET=PU(49.6=26.9)
A:
NA
C2:
PF0503311=Pre-SET=FE(33.9=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:
TGGCTGTGACTTCCTCTTCCT
R:
AGTTGATGGCAGGCACACTTG
Band lengths:
294-568
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