CDC27

cell division cycle 27, the group of Anaphase promoting complex |Tetratricopeptide repeat domain containing

Basic information

Region (hg38): 17:47117703-47189422

Previous symbols: [ "D0S1430E", "D17S978E" ]

Links

ENSG00000004897 ∙ NCBI:996 ∙ OMIM:116946 ∙ HGNC:1728 ∙ Uniprot:P30260 ∙ 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 CDC27 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDC27 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				3		3
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region						0
non coding						0
Total	0	0	1	3	0

Variants in CDC27

This is a list of pathogenic ClinVar variants found in the CDC27 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-47137153-A-G		Hepatocellular carcinoma • Small cell lung carcinoma • Lung cancer	Pathogenic (Jun 15, 2021)
17-47137238-A-T		Hepatocellular carcinoma • Small cell lung carcinoma • Lung cancer	Pathogenic (Jun 15, 2021)
17-47137288-C-T		Pulmonary artery atresia	Pathogenic (-)
17-47137307-T-C			Likely benign (Jul 01, 2024)
17-47154771-T-C			Benign/Likely benign (Mar 01, 2023)
17-47157038-T-A			Likely benign (Jul 01, 2024)
17-47157040-CA-C		Hepatocellular carcinoma • Small cell lung carcinoma • Lung cancer	Pathogenic (Jun 15, 2021)
17-47157045-G-T		Lung cancer	Pathogenic (Jun 15, 2021)
17-47157359-T-A			Likely benign (Sep 01, 2023)
17-47189144-A-G			Uncertain significance (Apr 04, 2024)
17-47189169-T-C		Esophageal atresia;Pyloric stenosis	Uncertain significance (May 22, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CDC27	protein_coding	protein_coding	ENST00000531206	19	71720

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.997	0.00325	124558	0	1152	125710	0.00459

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.20	211	388	0.543	0.0000186	5254
Missense in Polyphen		41	126.64	0.32374		1752
Synonymous	0.729	129	140	0.922	0.00000698	1501
Loss of Function	5.25	6	43.3	0.139	0.00000215	601

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00976	0.00955
Ashkenazi Jewish	0.0117	0.00977
East Asian	0.00428	0.00392
Finnish	0.00458	0.00426
European (Non-Finnish)	0.00415	0.00370
Middle Eastern	0.00428	0.00392
South Asian	0.00700	0.00573
Other	0.00749	0.00654

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. {ECO:0000269|PubMed:18485873}.
• Pathway: Cell cycle - Homo sapiens (human);Oocyte meiosis - Homo sapiens (human);Ubiquitin mediated proteolysis - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Senescence-Associated Secretory Phenotype (SASP);Cellular Senescence;Cellular responses to stress;Inactivation of APC/C via direct inhibition of the APC/C complex;Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components;Mitotic Spindle Checkpoint;Cell Cycle Checkpoints;Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;DNA Replication;Switching of origins to a post-replicative state;Class I MHC mediated antigen processing & presentation;Synthesis of DNA;S Phase;Cellular responses to external stimuli;TGF_beta_Receptor;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;Regulation of APC/C activators between G1/S and early anaphase;Phosphorylation of the APC/C;CDK-mediated phosphorylation and removal of Cdc6;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;APC-Cdc20 mediated degradation of Nek2A;APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint;APC/C:Cdc20 mediated degradation of Cyclin B;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdc20 mediated degradation of mitotic proteins;Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Autodegradation of Cdh1 by Cdh1:APC/C;APC/C-mediated degradation of cell cycle proteins;Regulation of mitotic cell cycle;Cell Cycle;Cell Cycle, Mitotic (Consensus)

Recessive Scores

• pRec: 0.154

Intolerance Scores

• loftool: 0.684
• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.89

Haploinsufficiency Scores

• pHI: 0.944
• hipred: Y
• hipred_score: 0.639
• ghis: 0.615

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.741

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cdc27

Gene ontology

• Biological process: metaphase/anaphase transition of mitotic cell cycle;cell population proliferation;anaphase-promoting complex-dependent catabolic process;protein K11-linked ubiquitination;regulation of mitotic cell cycle phase transition
• Cellular component: nucleus;nucleoplasm;anaphase-promoting complex;cytoplasm;centrosome;spindle;cytosol;spindle microtubule
• Molecular function: protein binding;protein phosphatase binding