HsaINT0129572 @ hg38
Intron Retention
Gene
ENSG00000130714 | POMT1
Description
protein O-mannosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:9202]
Coordinates
chr9:131519389-131520193:+
Coord C1 exon
chr9:131519389-131519486
Coord A exon
chr9:131519487-131520079
Coord C2 exon
chr9:131520080-131520193
Length
593 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
3' ss Seq
AGGCCTCTGCTTTGTTCCAGTGG
3' ss Score
6.78
Exon sequences
Seq C1 exon
GCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAG
Seq A exon
GTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAAGGGACTGTGTGTGACACCCCTGGCCCACACCTTGTGGCCCTGTGGTCAGGAATAATAGGGACCCAGGAGGTTCTGCAACATCGCCAGGGTGTCTTAAGGCCCCCAGGCAGCGAAATGGGCCACACTCAACAGAGCCCAAGAGAAGTCACAATCAGAAACTCACGGTCACAAATCTGAACGTGACCTTAGAGAGCATTCAGCCCAATCACTTCGTCTACAGAGGAGGTAACTGGAGCACATAGGGTGGGGCGACCCTCCCAAGGCCACATTCAGGGCTGGAATCCAGGTTCTCATCATGCTGCCTCCGATGCATGATCCGAATGAACTTGAGCTGGGCCAGTCCACGTGCAAGGGGCAGCAGTGTACTCCTTTGACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGGCCTCTGCTTTGTTCCAG
Seq C2 exon
TGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130714:ENST00000372228:16
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.333 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
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:
GCCAGGAGCAGAGGGAGC
R:
CCTGGGGTGCAGCCAGTA
Band lengths:
206-799
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