HsaINT0148380 @ hg38
Intron Retention
Gene
ENSG00000143379 | SETDB1
Description
SET domain bifurcated 1 [Source:HGNC Symbol;Acc:HGNC:10761]
Coordinates
chr1:150943920-150945108:+
Coord C1 exon
chr1:150943920-150943993
Coord A exon
chr1:150943994-150944917
Coord C2 exon
chr1:150944918-150945108
Length
924 bp
Sequences
Splice sites
5' ss Seq
CACGTGAGT
5' ss Score
9.3
3' ss Seq
CTACTTCTTCCTTGAAACAGTGA
3' ss Score
6.33
Exon sequences
Seq C1 exon
GTTTCTCATTTTCTTTGATGATGGCTATGCTTCCTATGTCACACAGTCGGAACTGTATCCCATTTGCCGGCCAC
Seq A exon
GTGAGTGTTTCTCCCTTATTCCTTAGCTCAGTTTTCTCCTCTACCTTGTATTTCTTCTTAGGACATCCAGTTGAAAAGCCCTAGTGTTTTTGGTATTTCAGTCTCAAAGAGCATAAGTTTGGTTGATGTCTTTTGCTCCCAAAGGTCAGTTTGCTCCCAAAAGAGATACAGTTTTATTGTTCATCTCCAGGACTGGGTCTTTGTAGACAAAGAGTGAGACACTAGAAGATCATGAATGGCCTTGAGTAGACTGCTCACGTTATAGATGTGCTTCAATTTCATTTCTAAGTGAGTTACGTTGGAAAAGGTGTTACTTCTTTCCTAGTGTCATACTGCACCTAACATTTGTATAAATGTGTAGTCTGCATAATGCTTTCCACAGAAGCTGTGTTAGATGGAACCTCATAGTGTCCACTATATTTGTTACCCTGGCTTGGGAGCAGACTCCTATGGAAACAATCATTTTTAACTGCAGAAGAATCAACTAACACTTTTGTTTACACATAACATGACAGTAAACACATTCTGAGTCTCTTAAAAACCTGATAGAGAATGAGAAGGAAGGACTAATTTTTTTCATTTCATGATGCCACCTGATCTTTTTAAATTTACCACTAGACTGATCAACAAGTGAGCAAGAATTTCCACTTGAATTTTCCAGAGGAGAAACATCCATTTGTGTAAAATAAGTGAATCACCTATATTGTACATTTCTTATTTAGTATTTACTTGATTTGTAAGTATGTACAGTTTGTACATTAGGTTTATTACTTAGGTGGTCTTGGCTTTGCTTCCCTTGAGGTTCTGATTTTACTTTTTCTCTCCTTTTCAACTTAAAAAGTATCAAATGTCTCCTGGCCAAGTCTTTTCCCTATCAAGACATGCCCTACCTGCCCTCTCAGTTCTACTTCTTCCTTGAAACAG
Seq C2 exon
TGAAAAAGACTTGGGAGGACATAGAAGACATCTCCTGCCGTGACTTCATAGAGGAGTATGTCACTGCCTACCCCAACCGCCCCATGGTACTGCTCAAGAGTGGCCAGCTTATCAAGACTGAGTGGGAAGGCACGTGGTGGAAGTCCCGAGTTGAGGAGGTGGATGGCAGCCTAGTCAGGATCCTCTTCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143379:ENST00000271640:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.005 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF150571=DUF4537=FE(20.7=100)
A:
NA
C2:
PF150571=DUF4537=PD(5.8=10.9)
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:
GTTTCTCATTTTCTTTGATGATGGCT
R:
GGAAGAGGATCCTGACTAGGCT
Band lengths:
263-1187
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