MPLKIP

M-phase specific PLK1 interacting protein

Basic information

Region (hg38): 7:40126027-40134622

Previous symbols: [ "C7orf11" ]

Links

ENSG00000168303 ∙ NCBI:136647 ∙ OMIM:609188 ∙ HGNC:16002 ∙ Uniprot:Q8TAP9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• trichothiodystrophy 4, nonphotosensitive (Definitive), mode of inheritance: AR
• trichothiodystrophy 4, nonphotosensitive (Strong), mode of inheritance: AR
• trichothiodystrophy 4, nonphotosensitive (Strong), mode of inheritance: AR
• trichothiodystrophy (Supportive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Trichothiodystrophy 4, nonphotosensitive	AR	Allergy/Immunology/Infectious	A number of individuals have been reported with frequent infections, and awareness and prompt and aggressive treatment of infections may be beneficial	Allergy/Immunology/Infectious; Dental; Dermatologic; Genitourinary; Neurologic; Ophthalmologic	4847854; 984047; 2333887; 15645389; 1634754; 16977596; 18603627; 21959366

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MPLKIP gene.

• not_provided (127 variants)
• Inborn_genetic_diseases (33 variants)
• Trichothiodystrophy_4,_nonphotosensitive (12 variants)
• MPLKIP-related_disorder (3 variants)
• Trichothiodystrophy_1,_photosensitive (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MPLKIP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000138701.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	41		42
missense		2	77		2	81
nonsense	3	1	2			6
start loss			1			1
frameshift	9	4	1			14
splice donor/acceptor (+/-2bp)	1					1
Total	13	7	82	41	2

Highest pathogenic variant AF is 0.0000217983

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MPLKIP	protein_coding	protein_coding	ENST00000306984	2	8637

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000164	0.460	125705	0	11	125716	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.176	106	101	1.05	0.00000471	1108
Missense in Polyphen		31	31.948	0.97034		290
Synonymous	-0.597	47	42.1	1.12	0.00000192	377
Loss of Function	0.276	6	6.77	0.886	2.93e-7	64

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000616	0.0000616
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in maintenance of cell cycle integrity by regulating mitosis or cytokinesis. {ECO:0000269|PubMed:17310276}.
• Disease: DISEASE: Trichothiodystrophy 4, non-photosensitive (TTD4) [MIM:234050]: A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non- photosensitive forms of the disorder. TTD4 patients do not manifest cutaneous photosensitivity. {ECO:0000269|PubMed:15645389}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Recessive Scores

• pRec: 0.142

Haploinsufficiency Scores

• pHI: 0.181
• hipred: N
• hipred_score: 0.297
• ghis: 0.657

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Mplkip

Gene ontology

• Biological process: cell cycle;cell division
• Cellular component: nucleus;nucleoplasm;cytoplasm;Golgi apparatus;centrosome;midbody;intracellular membrane-bounded organelle
• Molecular function: protein binding