HsaINT0129566 @ hg38
Intron Retention
Gene
ENSG00000130714 | POMT1
Description
protein O-mannosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:9202]
Coordinates
chr9:131511337-131512136:+
Coord C1 exon
chr9:131511337-131511467
Coord A exon
chr9:131511468-131512040
Coord C2 exon
chr9:131512041-131512136
Length
573 bp
Sequences
Splice sites
5' ss Seq
GATGTAAGG
5' ss Score
6.35
3' ss Seq
TCTTTGTTGACTTCACACAGATA
3' ss Score
6.47
Exon sequences
Seq C1 exon
GGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGAT
Seq A exon
GTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAG
Seq C2 exon
ATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130714:ENST00000372228:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.002 A=NA C2=0.027
Domain overlap (PFAM):
C1:
PF0281514=MIR=PU(6.2=25.0)
A:
NA
C2:
PF0281514=MIR=FE(18.2=100)
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:
GGAGGACTAGCTCGGATCACT
R:
CCTGGGATCCTTTACAATCCACC
Band lengths:
225-798
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development