• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MPLKIP (HGNC:16002) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
M-phase specific PLK1 interacting protein
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C7orf11
Alias symbols
ORF20, TTDN1
%HI
22.22(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.67(Read more about gnomAD LOEUF score)
Cytoband
7p14.1
Genomic Coordinates
GRCh37/hg19: chr7:40165626-40174221 NCBI Ensembl UCSC
GRCh38/hg38: chr7:40126027-40134622 NCBI Ensembl UCSC
MANE Select Transcript
NM_138701.4 ENST00000306984.8 (Read more about MANE Select)
Function
May play a role in maintenance of cell cycle integrity by regulating mitosis or cytokinesis. {ECO:0000269|PubMed:17310276}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-10746
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • trichothiodystrophy 4, nonphotosensitive Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)