HsaINT0129570 @ hg38
Intron Retention
Gene
ENSG00000130714 | POMT1
Description
protein O-mannosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:9202]
Coordinates
chr9:131518445-131518957:+
Coord C1 exon
chr9:131518445-131518537
Coord A exon
chr9:131518538-131518836
Coord C2 exon
chr9:131518837-131518957
Length
299 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
3' ss Seq
CTCTCCTGCGGTGTCACCAGCTG
3' ss Score
6.37
Exon sequences
Seq C1 exon
GAAATTGTGAACAGAGGATCTGACACAGACGTCTGGAAGACCATCCTCTCAGAGGTCCGCTTTGTGCACGTGAACACTTCCGCTGTCTTAAAG
Seq A exon
GTAAGGACACTGTCCGTGGCTTGGCCTGTCCTGAGCTGTGGGCTCCAGTCTGTTTCCCAAGCCCCTCAGGCTTCACCGCCTCTCTGCAGGCGGAACGCTTCATTTGAGTCATCATGGCTTCCTCTTACACTGAGGGAGGGCGGCTTTTGTAACTTCTCAGGATGGAATCCCAATGTGAATCTCCCACAAGGGGCACCTGCTGACAGCGTGACCCGGGCAGGGGTTCCCCTTCCAACCCAAGTGGACACGGGAGCCACGGCCTTCCCATCACGCCCTTTACTCTCCTGCGGTGTCACCAG
Seq C2 exon
CTGAGCGGGGCTCACCTCCCTGACTGGGGGTATCGGCAACTGGAGATCGTCGGGGAGAAGCTGTCCCGGGGCTACCACGGGAGCACGGTGTGGAACGTGGAGGAGCACCGATACGGCGCGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130714:ENST00000372228:14
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0281514=MIR=FE(17.0=100)
A:
NA
C2:
PF0281514=MIR=PD(21.0=90.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAGGATCTGACACAGACGTCT
R:
CCGTATCGGTGCTCCTCCA
Band lengths:
197-496
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