MPLKIP

M-phase specific PLK1 interacting protein

Basic information

Region (hg38): 7:40126026-40134622

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 (8 variants)
• Trichothiodystrophy 4, nonphotosensitive (4 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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				39		39
missense	1		61		2	64
nonsense	2		2			4
start loss			1			1
frameshift	6	1	1			8
inframe indel			2			2
splice donor/acceptor (+/-2bp)	1					1
splice region				1	1	2
non coding				7	4	11
Total	10	1	67	46	6

Highest pathogenic variant AF is 0.0000197

Variants in MPLKIP

This is a list of pathogenic ClinVar variants found in the MPLKIP region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-40132833-C-T			Likely benign (Jul 05, 2018)
7-40132906-T-G			Benign (Jul 10, 2018)
7-40133067-A-G			Uncertain significance (Oct 03, 2020)
7-40133069-T-C			Uncertain significance (Feb 08, 2022)
7-40133070-A-G		Inborn genetic diseases	Uncertain significance (Jan 03, 2024)
7-40133082-T-C		Inborn genetic diseases	Uncertain significance (Aug 09, 2022)
7-40133082-T-G			Uncertain significance (Jun 13, 2022)
7-40133088-T-G		Inborn genetic diseases	Uncertain significance (Apr 25, 2022)
7-40133093-G-GT		Trichothiodystrophy 1, photosensitive	Pathogenic (-)
7-40133097-G-A			Uncertain significance (Feb 12, 2022)
7-40133102-T-C			Uncertain significance (Oct 18, 2023)
7-40133105-C-A		Trichothiodystrophy 4, nonphotosensitive • Inborn genetic diseases	Uncertain significance (Oct 02, 2023)
7-40133112-G-T			Uncertain significance (Dec 11, 2023)
7-40133113-T-C			Likely benign (Jan 26, 2022)
7-40133131-A-T			Likely benign (Mar 04, 2022)
7-40133134-T-C			Likely benign (Nov 15, 2023)
7-40133143-T-TA			Uncertain significance (Jun 19, 2021)
7-40133147-C-G			Benign (Mar 08, 2023)
7-40133148-C-T			Uncertain significance (Jul 16, 2021)
7-40133152-C-T			Uncertain significance (Aug 21, 2022)
7-40133169-T-C		Trichothiodystrophy 4, nonphotosensitive	Pathogenic (Jan 04, 2024)
7-40133170-T-C			Likely benign (Aug 17, 2023)
7-40133176-C-T			Likely benign (Jun 03, 2023)
7-40133198-T-C			Uncertain significance (Jan 08, 2024)
7-40133202-A-TCC		Trichothiodystrophy 4, nonphotosensitive	Likely pathogenic (-)

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