CDCA8

cell division cycle associated 8, the group of Chromosomal passenger complex

Basic information

Region (hg38): 1:37692480-37709719

Links

ENSG00000134690 ∙ NCBI:55143 ∙ OMIM:609977 ∙ HGNC:14629 ∙ Uniprot:Q53HL2 ∙ 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 CDCA8 gene.

• Inborn genetic diseases (10 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDCA8 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			8	2		10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	8	2	0

Variants in CDCA8

This is a list of pathogenic ClinVar variants found in the CDCA8 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-37692751-C-T		not specified	Uncertain significance (May 11, 2022)
1-37692917-T-C		not specified	Uncertain significance (Jul 11, 2023)
1-37692928-G-C		not specified	Likely benign (Aug 17, 2022)
1-37692976-A-G		not specified	Uncertain significance (Sep 21, 2021)
1-37698925-A-C		not specified	Uncertain significance (May 18, 2022)
1-37700443-G-C		not specified	Uncertain significance (Jul 20, 2022)
1-37700499-G-A		not specified	Likely benign (Mar 27, 2023)
1-37701789-G-C		not specified	Uncertain significance (Jul 25, 2023)
1-37703259-C-T		not specified	Uncertain significance (Feb 05, 2024)
1-37705445-T-C		not specified	Uncertain significance (Feb 17, 2024)
1-37706985-G-A		not specified	Uncertain significance (May 23, 2023)
1-37707056-A-C		not specified	Uncertain significance (Jan 26, 2022)
1-37707064-C-T			Likely benign (Dec 31, 2019)
1-37708311-TTTC-T		Neutrophil inclusion bodies	Likely pathogenic (-)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CDCA8	protein_coding	protein_coding	ENST00000373055	10	17302

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00717	0.990	125729	0	18	125747	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.02	126	163	0.774	0.00000873	1810
Missense in Polyphen		44	54.781	0.8032		603
Synonymous	1.38	45	58.5	0.770	0.00000297	554
Loss of Function	2.59	7	19.2	0.364	0.00000119	200

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000206	0.000206
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000704	0.0000703
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Major effector of the TTK kinase in the control of attachment- error-correction and chromosome alignment. {ECO:0000269|PubMed:15249581, ECO:0000269|PubMed:15260989, ECO:0000269|PubMed:16571674, ECO:0000269|PubMed:18243099}.
• Pathway: Signal Transduction;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;Mitotic Prometaphase;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;Cell Cycle;Resolution of Sister Chromatid Cohesion;Cell Cycle, Mitotic;Aurora B signaling (Consensus)

Recessive Scores

• pRec: 0.102

Intolerance Scores

• loftool: 0.660
• rvis_EVS: -0.18
• rvis_percentile_EVS: 39.95

Haploinsufficiency Scores

• pHI: 0.519
• hipred: Y
• hipred_score: 0.770
• ghis: 0.665

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.922

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cdca8
• Phenotype: cellular phenotype; homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Zebrafish Information Network

• Gene name: cdca8
• Affected structure: brain
• Phenotype tag: abnormal
• Phenotype quality: necrotic

Gene ontology

• Biological process: mitotic sister chromatid segregation;mitotic metaphase plate congression;chromosome organization;cell division
• Cellular component: chromosome, centromeric region;nucleus;nucleoplasm;nucleolus;cytosol;chromocenter;midbody;chromosome passenger complex;protein-containing complex;intercellular bridge;spindle midzone
• Molecular function: protein binding