HsaEX0049152 @ hg38
Exon Skipping
Gene
ENSG00000130714 | POMT1
Description
protein O-mannosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:9202]
Coordinates
chr9:131512041-131515522:+
Coord C1 exon
chr9:131512041-131512136
Coord A exon
chr9:131513239-131513331
Coord C2 exon
chr9:131515426-131515522
Length
93 bp
Sequences
Splice sites
3' ss Seq
GACAGCACTGTGTCTTCCAGGCA
3' ss Score
6.15
5' ss Seq
CACGTGAGT
5' ss Score
9.3
Exon sequences
Seq C1 exon
ATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAG
Seq A exon
GCACCAGCTGGTGGTGAGCAGCCCTCCGAGACCTGTGAGGCACGGGGACATGGTGCAGCTGGTCCACGGCATGACCACCCGCTCCCTGAACAC
Seq C2 exon
GCATGATGTTGCAGCCCCCCTGAGCCCCCATTCACAGGAGGTCTCCTGCTACATTGACTATAACATCTCCATGCCCGCCCAGAACCTCTGGAGACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130714_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.027 A=0.267 C2=0.152
Domain overlap (PFAM):
C1:
PF0281514=MIR=FE(18.2=100)
A:
PF0281514=MIR=FE(17.6=100)
C2:
PF0281514=MIR=FE(18.2=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATATGAGAACGGCCGAGGCAG
R:
GGCGGGCATGGAGATGTTATA
Band lengths:
175-268
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