HsaINT0129574 @ hg38
Intron Retention
Gene
ENSG00000130714 | POMT1
Description
protein O-mannosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:9202]
Coordinates
chr9:131521346-131522224:+
Coord C1 exon
chr9:131521346-131521472
Coord A exon
chr9:131521473-131522046
Coord C2 exon
chr9:131522047-131522224
Length
574 bp
Sequences
Splice sites
5' ss Seq
AGGGTTAGT
5' ss Score
5.02
3' ss Seq
GCTCGAGCCCTTTCCTATAGATG
3' ss Score
4.45
Exon sequences
Seq C1 exon
GCTCAGATCCACCTACTTGGAAACATAGTGATCTGGGTTTCGGGCAGCCTCGCTCTGGCCATCTACGCCCTGCTGTCCTTGTGGTACCTGCTCCGACGGCGAAGAAATGTCCATGACCTCCCTCAGG
Seq A exon
GTTAGTACCTCTCCCACATGGCTTTCTTTCTTTTTAATATAGACATGGGGTCTTGCTGTGTTGTCCAGGGTGTTCTTGAACTCCTGGGCTTAAGCGATCCTCCTGCCTCGGCCTCCCATAGTGCTAGGATTACAGGTGTGCGCTGAGCATTCACCGCCTCAAGTGACAAACCGACTTCATAGGAACCTACCCCTTAACGCGGCCTCTTTGTTTCTGTATTGTGGAATCTTAAATTATGTTTGTCTCCCAAGAGACAAAATGTTAAGTTCCCATGTTGCGTTAGAGGTGTCTCCAGTCGAGTGCAGCGTATTGGGCAGGAATTGCCCTCTTGGTCCCATGTTGCCCGTATGCGCTGGAAATGGCTGGGTAACACAGGCAGCCAGGCCGGGCGCGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGGGAGTCACCTGAGGCCAGGAGTTCAAAACCAGCCTGGGCAACATAGTAAGAACCCTCTCTCTAAAAAAGCAAAAGAGAGAGAAGACCCGGCCTGTGGGAGCAGCAGAGTCGGTGTAGCTCGAGCCCTTTCCTATAG
Seq C2 exon
ATGCCTGGCTGCGCTGGGTGCTGGCTGGGGCGCTGTGTGCCGGTGGCTGGGCAGTGAACTACCTCCCGTTCTTCCTGATGGAGAAGACACTCTTCCTCTACCACTACCTGCCCGCACTCACCTTCCAAATCCTTCTGCTCCCTGTGGTCCTGCAGCACATCAGCGACCACCTGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130714:ENST00000372228:18
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:
NO
A:
NA
C2:
NO
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:
GCTCAGATCCACCTACTTGG
R:
CACAGGTGGTCGCTGATGTG
Band lengths:
302-876
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