Special

HsaINT0129576 @ hg19

Intron Retention

Gene
Description
protein-O-mannosyltransferase 1 [Source:HGNC Symbol;Acc:9202]
Coordinates
chr9:134379576-134381607:+
Coord C1 exon
chr9:134379576-134379727
Coord A exon
chr9:134379728-134381500
Coord C2 exon
chr9:134381501-134381607
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-POMT1:NM_007171:2
Average complexity
IR-C
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


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
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