MPLKIP |
- 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)