Special

HsaINT0145147 @ hg19

Intron Retention

Gene
Description
SET binding factor 1 [Source:HGNC Symbol;Acc:10542]
Coordinates
chr22:50897899-50898588:-
Coord C1 exon
chr22:50898381-50898588
Coord A exon
chr22:50898096-50898380
Coord C2 exon
chr22:50897899-50898095
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-SBF1:NM_002972:26
Average complexity
IR-S
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


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
LOW PSI
Chicken
(galGal3)
LOW PSI
Zebrafish
(danRer10)
LOW PSI
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