HsaINT0145164 @ hg38
Intron Retention
Gene
ENSG00000100241 | SBF1
Description
SET binding factor 1 [Source:HGNC Symbol;Acc:HGNC:10542]
Coordinates
chr22:50466605-50467448:-
Coord C1 exon
chr22:50467338-50467448
Coord A exon
chr22:50466711-50467337
Coord C2 exon
chr22:50466605-50466710
Length
627 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
3' ss Seq
CGATCCTTTTTTTGCTGCAGAGG
3' ss Score
8.6
Exon sequences
Seq C1 exon
AACAGCCTTGGCCTCATCTATGCCATCCACGTGGAGGGCCTGAATGTGTGCCTGGAGAACGTGATTGGGAACCTGCTGACGTGCACTGTGCCCCTGGCTGGGGGCTCGCAG
Seq A exon
GTGAGTTTTGGAGGCAGCTGGTATCTGCACAGCCACAGGCCCTCCTGCTGGGGCCCTGGTAGGTATTTGGAGCCCAGCCAGAGCCACACACAGCTGGAGGCCTTGGATGCTCCCTCTTGCGTCCTCGTGCCACCATTGCCCCCAACAGTCCTGGCCTGCTTACCTGGCCCTCGCACCTGTGCTCTGGGCCTGTGTCGTTCAGCCTCTCTGTCCACTCCTTTGATGGTGTGTGCCTGTCTCTGGATGTTGATGTCAGCTTGTTTGTCTGCTCCCTGCCCTGTGCCTGGGTGTGTTGGAGTGTCTAACCGTGTCTTTCTGCCCGTCTGTCCTGTGCAGCTGGACTCTGTTGAGGAAGGAGCGGTATGGATTCTTTGTTTCTTCCGCCCACCTAGGCCCCATCCCTACCCCCAAGTCAAAAGCAGCCACTCCTGTCCTGAGTTTTCTCTGCAGCTGCTTGGGACAACAGAGGCAGGGCATGGCGTTTCCCTCTTGCCATGTTGCCCATCCCAGCCAGTCCCACCTCGGGTCTGTCAGTACACCAGGGTCTGCCTGGGGACACAGAGCTCTGGGCTGACTCTGGGCTGGCTCTGGCCAAACTACTGAGCCCCGATCCTTTTTTTGCTGCAG
Seq C2 exon
AGGACGATCTCTTTGGGGGCTGGTGACCGGCAGGTCATCCAGACTCCACTGGCCGACTCGCTGCCCGTCAGCCGCTGCAGCGTGGCCCTGCTCTTCCGCCAGCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100241:ENST00000380817:5
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:
PF0214116=DENN=FE(19.7=100)
A:
NA
C2:
PF0214116=DENN=FE(19.1=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:
CAGCCTTGGCCTCATCTATGC
R:
CTAGCTGGCGGAAGAGCAGG
Band lengths:
215-842
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