HsaEX0049153 @ hg38
Exon Skipping
Gene
ENSG00000130714 | POMT1
Description
protein O-mannosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:9202]
Coordinates
chr9:131519389-131521472:+
Coord C1 exon
chr9:131519389-131519486
Coord A exon
chr9:131520080-131520193
Coord C2 exon
chr9:131521346-131521472
Length
114 bp
Sequences
Splice sites
3' ss Seq
AGGCCTCTGCTTTGTTCCAGTGG
3' ss Score
6.78
5' ss Seq
AGCGTAAGC
5' ss Score
6.06
Exon sequences
Seq C1 exon
GCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAG
Seq A exon
TGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGC
Seq C2 exon
GCTCAGATCCACCTACTTGGAAACATAGTGATCTGGGTTTCGGGCAGCCTCGCTCTGGCCATCTACGCCCTGCTGTCCTTGTGGTACCTGCTCCGACGGCGAAGAAATGTCCATGACCTCCCTCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130714_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.333 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
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:
GAGCAGAGGGAGCGGGAA
R:
CCTGAGGGAGGTCATGGACAT
Band lengths:
220-334
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