HsaINT0129571 @ hg38
Intron Retention
Gene
ENSG00000130714 | POMT1
Description
protein O-mannosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:9202]
Coordinates
chr9:131518837-131519486:+
Coord C1 exon
chr9:131518837-131518957
Coord A exon
chr9:131518958-131519388
Coord C2 exon
chr9:131519389-131519486
Length
431 bp
Sequences
Splice sites
5' ss Seq
CGAGTGAGT
5' ss Score
8.49
3' ss Seq
GCCCTTGTCTGTTCTGCCAGGCC
3' ss Score
8.47
Exon sequences
Seq C1 exon
CTGAGCGGGGCTCACCTCCCTGACTGGGGGTATCGGCAACTGGAGATCGTCGGGGAGAAGCTGTCCCGGGGCTACCACGGGAGCACGGTGTGGAACGTGGAGGAGCACCGATACGGCGCGA
Seq A exon
GTGAGTCCGCGGCGTGGCTTCCGCCGCTCCTGGAATGTACTTTCAGCTGCTCAATATTTGATAACACCCCAGAGTTCTCATTTTGGTGGGAAGGGAACTGAGCACATTCTCCATGCTCGGTGGCAGGTCATCTCCCTCCCTGCACCCTGCACTCAGCTGCTGCAGTAATAACTCAAGACGCTTCTTCCGAGGTGTCGCTGGAAGGCAACCAGTTTATCCCCGTGCAAGTGGAGCTTTCTCAGGGTCGAAATCACCTCATTTGACCGGGCAGTCTTGGGTGTGGTGGGGAAAGCTAAGTGGAATGATGCGGTTCGATAAGGGGTCTTTGTTAGAAAGGCAGGAAGCCAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAG
Seq C2 exon
GCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130714:ENST00000372228:15
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=0.333
Domain overlap (PFAM):
C1:
PF0281514=MIR=PD(21.0=90.2)
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:
GGCTCACCTCCCTGACTGG
R:
CTGCAGCTCCGAGAATCTC
Band lengths:
211-642
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