HsaEX0049154 @ hg38
Exon Skipping
Gene
ENSG00000130714 | POMT1
Description
protein O-mannosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:9202]
Coordinates
chr9:131502925-131506220:+
Coord C1 exon
chr9:131502925-131503073
Coord A exon
chr9:131504189-131504340
Coord C2 exon
chr9:131506114-131506220
Length
152 bp
Sequences
Splice sites
3' ss Seq
GCTCCTCCCTTCTTTTCTAGGGC
3' ss Score
12.3
5' ss Seq
GGTGTAAGC
5' ss Score
4.48
Exon sequences
Seq C1 exon
CCCGCAGGCTCGGTGAATCGAACGTTGAGCAGGGCGGTGGGTGGTGCGGAGTGCCGAGCGGCCTCACCCCCAACCGTCGGCCCAGTCGGACGGTTCCGAGGCGTTGCCGGGAGCCGGGCGCGGCTCTGTGTGGACTCGGAGAAACGCGG
Seq A exon
GGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGT
Seq C2 exon
TTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130714_MULTIEX1-1/9=C1-2
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
Show structural model
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
PF0236613=PMT=PU(17.1=51.2)
C2:
PF0236613=PMT=PU(10.3=95.7)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCGGTGAATCGAACGTTGAGC
R:
CAAGGCCAGCACCATGTGG
Band lengths:
243-395
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