ZW10

zw10 kinetochore protein, the group of RZZ complex|NRZ tethering complex

Basic information

Region (hg38): 11:113733187-113773735

Links

ENSG00000086827 ∙ NCBI:9183 ∙ OMIM:603954 ∙ HGNC:13194 ∙ Uniprot:O43264 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZW10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZW10 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						0
missense			28	2		30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	2	0

Variants in ZW10

This is a list of pathogenic ClinVar variants found in the ZW10 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-113733727-T-G		not specified	Uncertain significance (Jun 28, 2022)
11-113733749-C-T		not specified	Uncertain significance (Sep 30, 2022)
11-113736720-T-C		not specified	Uncertain significance (Dec 06, 2022)
11-113736737-G-A		not specified	Uncertain significance (Dec 06, 2022)
11-113738268-C-T		not specified	Uncertain significance (Jun 16, 2024)
11-113738269-G-A		not specified	Uncertain significance (Dec 21, 2023)
11-113738341-T-C		not specified	Uncertain significance (Nov 16, 2021)
11-113739234-C-A		not specified	Uncertain significance (Mar 31, 2024)
11-113739264-A-G		not specified	Uncertain significance (May 04, 2023)
11-113739310-C-A		not specified	Uncertain significance (Aug 12, 2021)
11-113739332-C-G		not specified	Uncertain significance (Jul 14, 2021)
11-113743823-G-C		not specified	Uncertain significance (May 14, 2024)
11-113743845-C-T		not specified	Uncertain significance (Nov 08, 2022)
11-113743880-C-T		not specified	Uncertain significance (Jul 27, 2022)
11-113743887-T-C		not specified	Uncertain significance (Apr 23, 2024)
11-113743929-C-G		not specified	Uncertain significance (Jun 13, 2024)
11-113743989-C-A		not specified	Uncertain significance (Apr 22, 2024)
11-113743994-T-C		not specified	Uncertain significance (Jul 25, 2023)
11-113747584-C-T		not specified	Uncertain significance (May 24, 2024)
11-113747626-G-A		not specified	Uncertain significance (Apr 30, 2024)
11-113748400-G-T		not specified	Uncertain significance (May 26, 2022)
11-113757742-G-A		not specified	Uncertain significance (Dec 12, 2022)
11-113757754-T-G		not specified	Uncertain significance (Jun 13, 2024)
11-113757760-C-T		not specified	Uncertain significance (Aug 23, 2021)
11-113757844-A-C		not specified	Uncertain significance (Apr 25, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZW10	protein_coding	protein_coding	ENST00000200135	16	40625

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00149	0.999	125673	0	75	125748	0.000298

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.441	385	410	0.939	0.0000204	5141
Missense in Polyphen		97	118.49	0.81861		1554
Synonymous	0.967	135	150	0.900	0.00000746	1453
Loss of Function	3.81	12	37.1	0.324	0.00000157	512

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000245	0.000244
Ashkenazi Jewish	0.00151	0.00149
East Asian	0.000217	0.000217
Finnish	0.00102	0.00102
European (Non-Finnish)	0.000195	0.000193
Middle Eastern	0.000217	0.000217
South Asian	0.000173	0.000163
Other	0.000329	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex (PubMed:11590237, PubMed:15485811, PubMed:15824131). Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum (ER); the function is proposed to depend on its association in the interphase NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:15029241). {ECO:0000269|PubMed:11590237, ECO:0000269|PubMed:15029241, ECO:0000269|PubMed:15094189, ECO:0000269|PubMed:15485811, ECO:0000269|PubMed:15824131, ECO:0000305}.
• Pathway: Signal Transduction;Vesicle-mediated transport;Membrane Trafficking;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Amplification of signal from the kinetochores;Mitotic Spindle Checkpoint;Cell Cycle Checkpoints;RHO GTPases Activate Formins;RHO GTPase Effectors;Signaling by Rho GTPases;COPI-dependent Golgi-to-ER retrograde traffic;Golgi-to-ER retrograde transport;Mitotic Prometaphase;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;Cell Cycle;Resolution of Sister Chromatid Cohesion;Cell Cycle, Mitotic;Intra-Golgi and retrograde Golgi-to-ER traffic (Consensus)

Recessive Scores

• pRec: 0.126

Intolerance Scores

• loftool: 0.757
• rvis_EVS: -0.97
• rvis_percentile_EVS: 8.9

Haploinsufficiency Scores

• pHI: 0.435
• hipred: Y
• hipred_score: 0.683
• ghis: 0.621

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.988

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zw10

Gene ontology

• Biological process: mitotic sister chromatid segregation;establishment of mitotic spindle orientation;endoplasmic reticulum to Golgi vesicle-mediated transport;retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;Golgi organization;mitotic metaphase plate congression;mitotic cell cycle checkpoint;mitotic spindle assembly checkpoint;regulation of exit from mitosis;protein transport;protein localization to kinetochore;cell division;meiotic cell cycle;protein-containing complex assembly
• Cellular component: kinetochore;condensed chromosome kinetochore;spindle pole;nucleus;endoplasmic reticulum;endoplasmic reticulum membrane;kinetochore microtubule;cytosol;membrane;Dsl1/NZR complex;RZZ complex
• Molecular function: protein binding;centromeric DNA binding