Special

HsaINT0051724 @ hg38

Intron Retention

Gene
Description
dolichyl-phosphate mannosyltransferase subunit 2, regulatory [Source:HGNC Symbol;Acc:HGNC:3006]
Coordinates
chr9:127936553-127937523:-
Coord C1 exon
chr9:127937434-127937523
Coord A exon
chr9:127936656-127937433
Coord C2 exon
chr9:127936553-127936655
Length
778 bp
Sequences
Splice sites
5' ss Seq
TTGGTATGT
5' ss Score
7.12
3' ss Seq
AGCTCTTCCCTCGATGCCAGCCA
3' ss Score
3.72
Exon sequences
Seq C1 exon
GCCACGGGGACAGACCAGGTGGTGGGACTCGGCCTCGTCGCCGTTAGCCTGATCATCTTCACCTACTACACCGCCTGGGTGATTCTCTTG
Seq A exon
GTATGTCATTCTCCCCGTCCGCTGCTCACCTTCCCCGAGCCCTGGCACCGCCAGAGCAACTACTATATAGGCTCTAGGCACGGCGCTGGCTTCATTGCCTGCCTCATCTCTTGAACTCTCCAGAACAACTCTATGAGGAAGATGCCAGTGGTACCGCATTTTATAGATGAGATAGCTGAGGCTAGGGGAGAAGGATCTGGCCCAAGATTGCATCCTTAGCCGCTACACTTATAACTCTGTTTCCGGCTTGCTTTGACTTTTGGGGGAGTTCTGTTCCTTCTGGGTTAGCCTGCTGACTCTTAGGCATGGCAAACGCCAGTGATATTTGTGAAGGCCTTTAGGATATTTTTTTCTTGTGGGAAAACTTGTTGGTTATTGCTTAAGAAGTGCAGTGTGTCTGGAAGTGCAGAACTTGGTATCCTTTAGAGAAAAAATATTAGTGAAGAAGCCCTGGAGGCCCAGGTTGGGAGTCAGTCGAGGATTCCTCAAGTACCATTTGCTAGGCTGTGAGGTGCCTTAGGGCAGGTCTCTTGTGCCCTGTTCTCTTGTCCCCACCACCAACCTATAGCAGGCACCAAAGCAAGTGCCCGGTAAATACCAATAAGAAATTAAGGAAAGAAACAAACCACGACACCCAAATGCCGTAATCTTAAAGAAAAGCAAATGCAGTCCCAGTCCTCTGAATGGGTCAGCCCCTTAGATGGAGGAGGTGGGACGTTTGGGCTTGGGGGCTCGGCAAGGCAAGCAAGACACACCAGAGCTCTTCCCTCGATGCCAG
Seq C2 exon
CCATTCATCGACAGTCAGCATGTCATCCACAAGTATTTCCTGCCCCGAGCCTATGCTGTCGCCATCCCACTGGCTGCAGGCCTCCTGCTGCTCCTGTTTGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136908:ENST00000314392:2
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=0.015
Domain overlap (PFAM):

C1:
PF072977=DPM2=PU(33.8=90.0),PF085107=PIG-P=PU(32.5=86.7)
A:
NA
C2:
PF072977=DPM2=FE(42.5=100),PF085107=PIG-P=FE(42.5=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACGGGGACAGACCAGGT
R:
CACAAACAGGAGCAGCAGGAG
Band lengths:
190-968
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