HsaEX0056293 @ hg38
Exon Skipping
Gene
ENSG00000100241 | SBF1
Description
SET binding factor 1 [Source:HGNC Symbol;Acc:HGNC:10542]
Coordinates
chr22:50456492-50459392:-
Coord C1 exon
chr22:50459255-50459392
Coord A exon
chr22:50457034-50457111
Coord C2 exon
chr22:50456492-50456673
Length
78 bp
Sequences
Splice sites
3' ss Seq
TCTCTCTGCTGTGCCCTCAGTTC
3' ss Score
9.19
5' ss Seq
GAGGTACCG
5' ss Score
8.5
Exon sequences
Seq C1 exon
GCCAGTCCCAGGCGGACTCGAGTAGCCTGGAGCAGGAGAAGTACCTGCAGGCTGTGGTCAGCTCCATGCCCCGCTACGCCGACGCGTCGGGACGCAACACGCTTAGCGGCTTCTCCTCAGCCCACATGGGCAGTCACG
Seq A exon
TTCCCAGCCCCAGAGCCAGGGTCACCACGCTGTCCAACCCCATGGCGGCCTCGGCCTCCAGACGGACCGCACCCCGAG
Seq C2 exon
GTAAGTGGGGCAGTGTCCGGACCAGTGGACGCAGCAGTGGCCTTGGCACCGATGTGGGCTCCCGGCTAGCTGGCAGAGACGCGCTGGCCCCACCCCAGGCCAACGGGGGCCCTCCCGACCCGGGCTTCCTGCGTCCGCAGCGAGCAGCCCTCTATATCCTTGGGGACAAAGCCCAGCTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100241-'46-76,'46-74,50-76
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.532 A=1.000 C2=0.680
Domain overlap (PFAM):
C1:
PF066029=Myotub-related=FE(10.6=100)
A:
PF066029=Myotub-related=FE(5.6=100)
C2:
PF066029=Myotub-related=FE(13.8=100)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGAAGTACCTGCAGGCTGTG
R:
TCTCTGCCAGCTAGCCGG
Band lengths:
182-260
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development