HsaINT0145147 @ hg38
Intron Retention
Gene
ENSG00000100241 | SBF1
Description
SET binding factor 1 [Source:HGNC Symbol;Acc:HGNC:10542]
Coordinates
chr22:50459470-50460159:-
Coord C1 exon
chr22:50459952-50460159
Coord A exon
chr22:50459667-50459951
Coord C2 exon
chr22:50459470-50459666
Length
285 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
3' ss Seq
ACGCCTCTGCCTCCTCTCAGCTA
3' ss Score
8.3
Exon sequences
Seq C1 exon
TGTCGGAGGAGCTGGAGCCCAGCACGCTGACCCCGTCCTCAGCCCTGAAGCCCTCCGACCGCATGACCATGAGCAGCCTGGTGGAAAGGGCTTGCTGTCGCGACTACCAGCGCCTCGGTCTGGGCACCCTGAGCAGCAGCCTGAGCCGGGCCAAGTCTGAGCCCTTCCGCATTTCTCCGGTCAACCGCATGTATGCCATCTGCCGCAG
Seq A exon
GTGAGGGCCGGCCAGGGCTGGCCCGGGTGGTGGACACGTGACTGGGTGTCTTCCCTGCCCGCTGTGGGCCTGGGCCACGGCTTCTGGTCATGTAAGGAATGTGGAGGGGGAGACTCCGGGCAGAGGGACGGGCCACAGGGCTGGGGGGTGGCTGGGGGGCCCCGTGGCTGAGCTGGAAGCGCCTCCTGCTGGGAGCCATGGGCTGGCTCCTCTTGCCCTGCTTGGGGCGTGAGCCTGGAGGCGGGTGGGGTCGCCAGCCACCTTCACGCCTCTGCCTCCTCTCAG
Seq C2 exon
CTACCCAGGGCTGCTGATCGTGCCCCAGAGTGTCCAGGACAACGCCCTGCAGCGCGTGTCCCGCTGCTACCGCCAGAACCGCTTCCCCGTGGTCTGCTGGCGCAGCGGGCGGTCCAAGGCGGTGCTGCTGCGCTCTGGAGGCCTGCATGGCAAAGGTGTCGTCGGCCTCTTCAAGGCCCAGAACGCACCTTCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100241:ENST00000380817:26
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.329 A=NA C2=0.119
Domain overlap (PFAM):
C1:
PF066029=Myotub-related=PU(14.7=91.4)
A:
NA
C2:
PF066029=Myotub-related=FE(15.2=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATGAGCAGCCTGGTGGAAAG
R:
GACGACACCTTTGCCATGCAG
Band lengths:
304-589
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
- Pre-implantation embryo development