HsaINT0129568 @ hg38
Intron Retention
Gene
ENSG00000130714 | POMT1
Description
protein O-mannosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:9202]
Coordinates
chr9:131513239-131515522:+
Coord C1 exon
chr9:131513239-131513331
Coord A exon
chr9:131513332-131515425
Coord C2 exon
chr9:131515426-131515522
Length
2094 bp
Sequences
Splice sites
5' ss Seq
CACGTGAGT
5' ss Score
9.3
3' ss Seq
TCTCGGTCTTGGTTTTCCAGGCA
3' ss Score
9.07
Exon sequences
Seq C1 exon
GCACCAGCTGGTGGTGAGCAGCCCTCCGAGACCTGTGAGGCACGGGGACATGGTGCAGCTGGTCCACGGCATGACCACCCGCTCCCTGAACAC
Seq A exon
GTGAGTGTGCCCGCCGTCTGCTCTGCTGCACCTGTGGGTTTCCTCTGTGGTTCTCTGTTCAGACCAAAACGTGAGCCCTGCCTTGGGCCGCTGCCCCCTGTCTACCCATCATCTGCATGTGTAGCAGCTCTTAGACCTACATTTGATGCCGGGAGGGGACCCAGGCCTGGCCGCGGAAGGGAGCGGGGTTAAGAGGAAGCAGGGGCTCTGTGAGGACTGGACAGAAGCACCTAGCACAGCCCATCCTAGGAGAGCTCAGGGCCCCGTGGATGAGTGTACAAGGACAGGCTGGGAATGTTGACCCGCTTTCTATGCAGAGAATGGAGTTTGGGCACACCTCCTTAAAGTGGTCAAGCTTAAAGTATGAGTGAGTCCAAGAAGCCTGGAAGCTCGGGCACGAGTGGAGCCGTGAAGGCTTCTTCCTTCTCAGTCCTTCGTCCTTGTCCGACTTGCCTTCCCGTGGTGCTGGGCACAGTTGCTCACACCCTCCTCCTTCCTCCCTGACTGCTCTCTCCACCGCCTCCTTTTCCTCTGTTGCTCTCAGTCTCTGAGGGCCCTCCGGCCTTGCTGCCTCTGCACAGGCCCAGTCCCGGGGCTACCTCTCCTGGACTTCCACCCGGCTGCCCGGGGCTCACCTCCAGCTCTCCACGACTCCCAGCTCCACAGGGGCGGTCTCTGGCCCTGGCTTTTCTGGTTCTCCCTGGAAAGGGCCCAGTAGCTGAGGCATCACCTGACTCCTTCCCCTCCCCTCCCATTGCATGTTGATTCCATTGGGAGATCCTGTTTCTCAACCTTCAGAACCAGCCCTGGGTAGGGGTCCTTCCTTCTCCCTCTACTCCCACCTCCTGGGGCCTGACCTCTCTACCTCGCAGCAGCCTGTCCGGCCTGCGGACCGTGCACAACCCACTTGCGTTGTTCCTCTGTGCTCAGTGACTCCCGTCACCCGCCAAGGTCCCTGGTGACCCTGACACACTTCACCCCCGCCACCCTGGCTCCCCCCAGCCCTGAAACAACCACCTGCGGGCCCCTTGGGGGCTTCACACTTGCTCCCTCTGCGAGAATGTTCTTGGACTTGGCTCCCCCATGGCCCCTCTATGTAGGGGTCTGCTGGGATGTCACTGCATCCAAAAGTGCCTCCTGGGTGCTGTCCCCCACCATTTGTTTTATTAGTGGCACTCCTACAGGTGCACGCTCTGCCCACCGGCATGATGGCTGTTTCCCAGAGGGCTGTGAGGGCCTTGTCTTGTTCACAGCTGGGTGGCTGCTCCTAGACAGTGCCAGGTGCATGGTGCGGTACCACATGGTTACTGAGTGTGTGGATTAAGAGGAAGTGGGTGTTCCTGACCGGGCGTGCTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATTTGAGGTCAGGAGTTGGAGACAAGCTGGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTAGACAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCTGAGATCGCGCCATTTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAACAAAAAAGAAGTGGGTGTTCGTTAACATTGAGGTTGATAGCCTTTTCTCCCAGCTTATCTGCTGCGTCCCCAGGCCAGCTGGGCGCAGGGGCGGGCAGCTCAGCCCTGCAAGTTGTAGCATTGGTACTGCCAGCTGGCATCGCAGCAGTACCGGATCGGGCCTGGGCGCACGGTTCCTTCCTCTGAAACTTGGTTCGCTCGTCTAACAGGTGGAAGGTTCCACAGCAGAGTGTCCTTTTCTTTTGGAGATGTTCCCACAGGGCCTCCTGCCTGTTTAGTGTCCACTCCCATCGCCGAGCCTCAAGACCTCCGTCCTCAGTAGCAGCAACTCATGGGACTGGGCCACCCCTTATGGCTGAGCCGGCTTTGTTTCTGAAAAGCAACCTTTTCCTGCCTGAAAGATTTAGTAATTGCCTTCCAGAGGAGTTCAAGGAATTTTCTGAAATCTCGGTCTTGGTTTTCCAG
Seq C2 exon
GCATGATGTTGCAGCCCCCCTGAGCCCCCATTCACAGGAGGTCTCCTGCTACATTGACTATAACATCTCCATGCCCGCCCAGAACCTCTGGAGACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130714:ENST00000372228:12
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.267 A=NA C2=0.152
Domain overlap (PFAM):
C1:
PF0281514=MIR=FE(17.6=100)
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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