HsaINT0129576 @ hg38
Intron Retention
Gene
ENSG00000130714 | POMT1
Description
protein O-mannosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:9202]
Coordinates
chr9:131504189-131506220:+
Coord C1 exon
chr9:131504189-131504340
Coord A exon
chr9:131504341-131506113
Coord C2 exon
chr9:131506114-131506220
Length
1773 bp
Sequences
Splice sites
5' ss Seq
GGTGTAAGC
5' ss Score
4.48
3' ss Seq
GTTGTTGTTTTTTTTTCTAGTTT
3' ss Score
8.36
Exon sequences
Seq C1 exon
GGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGT
Seq A exon
GTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAG
Seq C2 exon
TTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130714:ENST00000372228:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0236613=PMT=PU(17.1=51.2)
A:
NA
C2:
PF0236613=PMT=PU(10.3=95.7)
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:
CTGCCTGAGCCCGCTTTTCTA
R:
CTCCCAAGGCCAGCACCAT
Band lengths:
254-2027
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