HsaEX6063596 @ hg38
Exon Skipping
Gene
ENSG00000130714 | POMT1
Description
protein O-mannosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:9202]
Coordinates
chr9:131518837-131520193:+
Coord C1 exon
chr9:131518837-131518957
Coord A exon
chr9:131519389-131519486
Coord C2 exon
chr9:131520080-131520193
Length
98 bp
Sequences
Splice sites
3' ss Seq
GCCCTTGTCTGTTCTGCCAGGCC
3' ss Score
8.47
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
CTGAGCGGGGCTCACCTCCCTGACTGGGGGTATCGGCAACTGGAGATCGTCGGGGAGAAGCTGTCCCGGGGCTACCACGGGAGCACGGTGTGGAACGTGGAGGAGCACCGATACGGCGCGA
Seq A exon
GCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAG
Seq C2 exon
TGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130714-'35-32,'35-30,37-32
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.333 C2=0.000
Domain overlap (PFAM):
C1:
PF0281514=MIR=PD(21.0=90.2)
A:
NO
C2:
NO
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:
GGTATCGGCAACTGGAGATCG
R:
GGCAATATTGGTGTCCAGGGT
Band lengths:
183-281
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains