HsaINT0129578 @ hg38
Intron Retention
Gene
ENSG00000130714 | POMT1
Description
protein O-mannosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:9202]
Coordinates
chr9:131506403-131507514:+
Coord C1 exon
chr9:131506403-131506453
Coord A exon
chr9:131506454-131507367
Coord C2 exon
chr9:131507368-131507514
Length
914 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAAA
5' ss Score
8.59
3' ss Seq
CAGTGTGGTTGCTTTTCCAGAAT
3' ss Score
6.86
Exon sequences
Seq C1 exon
GTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAG
Seq A exon
GTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAG
Seq C2 exon
AATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130714:ENST00000372228:4
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:
PF0236613=PMT=FE(13.8=100)
A:
NA
C2:
PF0236613=PMT=PU(16.7=96.2)
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:
GTTATTTAGGAGGATTCGATGGCA
R:
CGATAAGCATCAACAGAGCAGC
Band lengths:
198-1112
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