CENPV

centromere protein V

Basic information

Region (hg38): 17:16342534-16353656

Previous symbols: [ "PRR6" ]

Links

ENSG00000166582 ∙ NCBI:201161 ∙ OMIM:608139 ∙ HGNC:29920 ∙ Uniprot:Q7Z7K6 ∙ 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 CENPV gene.

• not_specified (36 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CENPV gene is commonly pathogenic or not. These statistics are base on transcript: NM_000181716.3. 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						0
missense			35	1	1	37
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	35	1	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CENPV	protein_coding	protein_coding	ENST00000299736	5	11123

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.332	0.654	125745	0	2	125747	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.44	75	119	0.629	0.00000633	1721
Missense in Polyphen		18	29.871	0.6026		346
Synonymous	0.164	46	47.4	0.970	0.00000248	559
Loss of Function	2.08	2	8.55	0.234	3.61e-7	123

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for distribution of pericentromeric heterochromatin in interphase nuclei and for centromere formation and organization, chromosome alignment and cytokinesis. {ECO:0000269|PubMed:18772885}.

Recessive Scores

• pRec: 0.156

Haploinsufficiency Scores

• pHI: 0.448
• hipred: N
• hipred_score: 0.373
• ghis: 0.632

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cenpv

Gene ontology

• Biological process: ameboidal-type cell migration;cell cycle;pericentric heterochromatin assembly;positive regulation of cytokinesis;regulation of chromosome organization;centromere complex assembly;cell division
• Cellular component: kinetochore;condensed chromosome kinetochore;nucleus;cytoplasm;microtubule cytoskeleton;spindle midzone
• Molecular function: molecular_function;carbon-sulfur lyase activity