HsaEX0049160 @ hg38
Exon Skipping
Gene
ENSG00000130714 | POMT1
Description
protein O-mannosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:9202]
Coordinates
chr9:131509743-131510415:+
Coord C1 exon
chr9:131509743-131509808
Coord A exon
chr9:131509903-131509996
Coord C2 exon
chr9:131510260-131510415
Length
94 bp
Sequences
Splice sites
3' ss Seq
TTTCTGTCATGTCTTTGCAGCAT
3' ss Score
10.2
5' ss Seq
AATGTAGGT
5' ss Score
5.12
Exon sequences
Seq C1 exon
CCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGG
Seq A exon
CATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAAT
Seq C2 exon
GTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130714_MULTIEX1-7/9=6-8
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=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0236613=PMT=FE(10.3=100)
A:
PF0236613=PMT=FE(14.6=100)
C2:
PF0236613=PMT=PD(15.5=63.5)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTGGCTAACACTGACAGGGG
R:
GGACATGATTTGGTCGTGGGG
Band lengths:
175-269
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