HsaINT0145153 @ hg38
Intron Retention
Gene
ENSG00000100241 | SBF1
Description
SET binding factor 1 [Source:HGNC Symbol;Acc:HGNC:10542]
Coordinates
chr22:50455481-50456395:-
Coord C1 exon
chr22:50456216-50456395
Coord A exon
chr22:50455583-50456215
Coord C2 exon
chr22:50455481-50455582
Length
633 bp
Sequences
Splice sites
5' ss Seq
CAGGTCTCT
5' ss Score
1.07
3' ss Seq
GAGGCCGCCTGTCCCTGCAGATC
3' ss Score
9.36
Exon sequences
Seq C1 exon
GGTGTGCGGTCAGACCCCCTGCAGCAGTGGGAGCTGGTGCCCATTGAGGTATTCGAGGCACGGCAGGTGAAGGCTAGCTTCAAGAAGCTGCTGAAAGCATGTGTCCCAGGCTGCCCCGCTGCTGAGCCCAGCCCAGCCTCCTTCCTGCGCTCACTGGAGGACTCAGAGTGGCTGATCCAG
Seq A exon
GTCTCTGCACTGCCCCGTCCCTCTGCCCGCCTTGGTGCTGGGCCCTCCCCTTGGGTAGAGCCAAGTGGACGGGTCTAGGTTTGCTTGTCTGACAGTGTGGAGCGCTGGAAGGAGGAGGTGACAGCCACTTCCCACCCAGGCTCTGGTGCCTAGAAGGCAGCTGGGAGGCTGGGCCTGGCTGGGGCCAGCTGACAGTGAGAGTGGCCAGGGCTTGGGCATGGGTATGTCGGAGCAGCCTGCTGGGCCCACGTGGGCTGATGACCACACGGGGGATGCAGTTTATGGTTCTGGGCCCCTGCTGCATTCTCTCGGGGGTGGGTACTGACAGGATGCTGGCTTGGTAAACACTGGAGGGCTTGAAGGTAGGGCCACCGGCATCTTGAGGGACAGGGACGTCCCTCAGTCCTAGAGGGCTTGGAAGGGGGTGGGCTGTGACCAGCAGGCTGGAGGCGGTGGTCGGCACACCCAGAGCGAGCTGTGTTTGTCCAGTGCTCTGCCCGCATACAGGGCTTGGGGGGCTGTGGACAGGGCCTGCCTCCCCGCTGCCTGTGGACATGCGGGTCTCTGGCCTGGTGAGTGGCCAGGCGGGAGGGCGGTGGGTCCCCGAGGTGCTGAGGCCGCCTGTCCCTGCAG
Seq C2 exon
ATCCACAAGCTGCTGCAGGTGTCTGTGCTGGTGGTGGAGCTCCTGGATTCAGGCTCCTCCGTGCTGGTGGGCCTGGAGGATGGCTGGGACATCACCACCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100241:ENST00000380817:31
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF066029=Myotub-related=FE(13.6=100)
A:
NA
C2:
PF066029=Myotub-related=FE(7.6=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:
GTGTGCGGTCAGACCCCC
R:
GGTGGTGATGTCCCAGCCAT
Band lengths:
278-911
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development