HsaEX0049159 @ hg38
Exon Skipping
Gene
ENSG00000130714 | POMT1
Description
protein O-mannosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:9202]
Coordinates
chr9:131508911-131510415:+
Coord C1 exon
chr9:131508911-131509022
Coord A exon
chr9:131509743-131509808
Coord C2 exon
chr9:131510260-131510415
Length
66 bp
Sequences
Splice sites
3' ss Seq
CTGCTTTGTTTTTATTCCAGCCC
3' ss Score
7.98
5' ss Seq
GGGGTGAGT
5' ss Score
7.93
Exon sequences
Seq C1 exon
AGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAG
Seq A exon
CCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGG
Seq C2 exon
GTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130714_MULTIEX1-6/9=5-8
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0236613=PMT=FE(17.4=100)
A:
PF0236613=PMT=FE(10.3=100)
C2:
PF0236613=PMT=PD(15.5=63.5)
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:
GCCGTGTTGTCCTACCTGAAG
R:
GGACATGATTTGGTCGTGGGG
Band lengths:
176-242
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