HsaINT0129569 @ hg38
Intron Retention
Gene
ENSG00000130714 | POMT1
Description
protein O-mannosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:9202]
Coordinates
chr9:131515426-131518537:+
Coord C1 exon
chr9:131515426-131515522
Coord A exon
chr9:131515523-131518444
Coord C2 exon
chr9:131518445-131518537
Length
2922 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGT
5' ss Score
10.1
3' ss Seq
CTTGAGATGTCTTTTTGCAGGAA
3' ss Score
6.86
Exon sequences
Seq C1 exon
GCATGATGTTGCAGCCCCCCTGAGCCCCCATTCACAGGAGGTCTCCTGCTACATTGACTATAACATCTCCATGCCCGCCCAGAACCTCTGGAGACTG
Seq A exon
GTGAGTAAGGCTGCGGCTATAGCAGCCACAACCGTCAGTAATGAACACTCCCTCACACGGAGCACTTCCTCACCCGGAGCACTCCCTAACACAGAGCACTTCCTAACAGAACACTTCATCACACGGAGCACTTCCTCTAACACGGAGCACTTCCTCTAACACAGGACACTTCCTCACACGGAACACTTCCTCACACGGAGCACTTCCTGTAACAGGACACTTCCTCACACGGAGCACTTCCTCTAACATGGAGCACTTCCTGTAACACAGGACACTTCCTCACACGGAGCACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACAGGGAGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAACACTTCCTCTAACACAGGACACTTCCTCTCACACTCACACGGAGCACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACACGGAGCACTTCCTCTAACACAGGACACTTCCTCACACGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAACACTTCCTCTAACACAGGACACTCTCACACTCACACGGAGCACTTCCTCTAACACAGGACACTTCCTCACACAGAGCACTTCCTCACACGGAGCACTTCCTCACACGGAACACTTCCTCACACGGAACACTTCCTCACACGGAACACCTCCTCACACGGAACACTTCCTCACACGGAGCACTTCCTCACACGGAACACCTCCTCACACGGAGCACTTCCTCACACGGAGCACTTCCTCTAACAGAACACTTCCTCACACGGAGCACTTCCTCACAGGGAGCACTCCATCACACGGAGCACTTGCTCACACGGAGCACTTCCTGACATGGAATGTTTGAAACTGCCGTTGAGAATAATCATTTTTCCTTTTTTTCAGTTTACCCAGTTGAGGTTGGATATTTAGAATAATTCTGATTCAGATGTAAAGTTACATAAGTTTTATTCGTACATAAAGTCACAGATGTTTTCACAGGGAACCGATGCGTCTTCCTTGGTGGAACTGGGGAACCTGGTGGTTTCCTGCATCAGAGGCCTGTGTTCACTGAGATTCTAAATGCTTTGTGTTTGCTCCATGTTGGGTGCCAGGTGCGCTTGAGGCTCTGCCAGGTGAAAGTTCTCCCAACCTGTTTAGCCTCAGGAGCAGGTCCTGAACACAGGACACGAGCTCCAGCCACCCCTCTGCCACCATGATCCAGGAGAAATTCCATTTCTCAGGATTTCCCTGGGGACAGGCTTAGCCGTGAGTGCGGGGGATGTTCCTGAGGCGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAGCGCTTTCTGCCTACGCAGGCTCAGCCCTGTTTCGCTTGACAGAGTTAGCACCACGTCCTCATGGCCAGCCCTCACAGCAAAGCCAGGTATCTGCTGATGTTCTTTTTTTTTTTTTGCGACTGGGTCTCACTCTGTCACCCAGGCTGAAGTGCAGTGGCGTGATCTTGGCTTACTGCAGTGTTGGCCTCCCAAGCTTAGGTGATCCTCCCACCTCTGCCTCTTGGTATTACAGGTTAGCCACCATGCCTGGCCCCTGTTAATTTTGAATATTTAATTTTTAAAATATTTTTTCTATTCCAGGACAGTCTGATTTTTAAAATTTTTTGTGGAGATGGGGTCTTGCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGACTCAAGCCGTCCTCTTACCTCAGCCTCCCAGAGTCGCTGGGATGACAAGTGTGAGCCACTGCTCCAGATTGGCTGTTCCATTTTTGTGCAGAGTGCGCCCCTCTGCCCCACTCGCCGTCTCTGTGCTCTGCATATCTGTGTGCGTTCTGCATTTCCATCCCCGCCCCCCCACAGTCCTTCCCTGACGTGAGTGCTGTGCCCCTTCTCACGGGCACCCTTCTCTGTCCTTTCTGATGGCCCCTTTGGCACCAGGAGCCCACATTTCAGGTGTCTGAAGTTCATAGAACAAGGAAGGAGGGAGCATGCGTGAGGTGTGCGCGCCCGGCCTGCGGCATGGACCGCGGCCAGGCCTCCTCATGCCTGCTCCTGCCTAGCTTCTTGGGTTCTCTGGTTGTGACAGTATGGGAAAATGACAGTCATGTGATGTCATGGGGTCATTGTGAGGCTCCAGTATGTCAGGCTGTGACAAGGCAAAGTGCCTTTCAGATGTTAGTTGTCTTTTTTATTACTCGATGCGAGGAAATCTCTAAGCTGTGTCTGGCAGGGACAGTGTCTGGCCTTCATCTGAGCTGTCTGCGAGTCCTGCCAGATAGGGACTGAGACTTGCTCACTTTTTGGCCAGGGCTCTGAGCCCTATGAATAGGCTTTGCAGAGAGGCACGAAGAACATCAGGCTTTGTATTTTCTGTGAGGAGGCCTCTTGTACGGCCTTGGCGAGGAGGAGGGTGCACTTCCCCAGCGACCCTCGGAGCAGCCCGGGGTGCTGTGGGCATTGGGAAGGAAGGCCAGTACCAGCCCCTTATAGCTTCCCTCACTTGGGGACTTGTCCCTTTGTCTCAGGCTCAAGTCAGTATCATTGTTTGGTGACAGGTCTTTATTTTTACATTGAAGGAAATTTGAAAAGGAATGAAATAATCCTTGAGATGTCTTTTTGCAG
Seq C2 exon
GAAATTGTGAACAGAGGATCTGACACAGACGTCTGGAAGACCATCCTCTCAGAGGTCCGCTTTGTGCACGTGAACACTTCCGCTGTCTTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130714:ENST00000372228:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.152 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0281514=MIR=FE(18.2=100)
A:
NA
C2:
PF0281514=MIR=FE(17.0=100)
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
NA
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