HsaEX0049155 @ hg38
Exon Skipping
Gene
ENSG00000130714 | POMT1
Description
protein O-mannosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:9202]
Coordinates
chr9:131502925-131506453:+
Coord C1 exon
chr9:131502925-131503073
Coord A exon
chr9:131506114-131506220
Coord C2 exon
chr9:131506403-131506453
Length
107 bp
Sequences
Splice sites
3' ss Seq
GTTGTTGTTTTTTTTTCTAGTTT
3' ss Score
8.36
5' ss Seq
GAGGTAGGA
5' ss Score
8.24
Exon sequences
Seq C1 exon
CCCGCAGGCTCGGTGAATCGAACGTTGAGCAGGGCGGTGGGTGGTGCGGAGTGCCGAGCGGCCTCACCCCCAACCGTCGGCCCAGTCGGACGGTTCCGAGGCGTTGCCGGGAGCCGGGCGCGGCTCTGTGTGGACTCGGAGAAACGCGG
Seq A exon
TTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAG
Seq C2 exon
GTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130714_MULTIEX1-2/9=C1-3
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
PF0236613=PMT=PU(10.3=95.7)
C2:
PF0236613=PMT=FE(13.8=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:
GGCTCGGTGAATCGAACGTT
R:
CTGCTCCAATTCTGTTCCACA
Band lengths:
194-301
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