CEP44

centrosomal protein 44

Basic information

Region (hg38): 4:174283730-174333380

Previous symbols: [ "KIAA1712" ]

Links

ENSG00000164118 ∙ NCBI:80817 ∙ OMIM:620217 ∙ HGNC:29356 ∙ Uniprot:Q9C0F1 ∙ 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 CEP44 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEP44 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			18	5		23
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	18	5	0

Variants in CEP44

This is a list of pathogenic ClinVar variants found in the CEP44 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-174299143-A-G		not specified	Uncertain significance (Apr 18, 2023)
4-174299171-T-A		not specified	Uncertain significance (Dec 07, 2023)
4-174299185-T-C		not specified	Uncertain significance (Feb 14, 2025)
4-174302139-G-C		not specified	Uncertain significance (Jun 01, 2023)
4-174302182-A-G		not specified	Uncertain significance (Nov 07, 2022)
4-174303709-C-T		not specified	Uncertain significance (Dec 21, 2022)
4-174303710-G-A		not specified	Uncertain significance (Feb 16, 2023)
4-174303718-T-C		not specified	Uncertain significance (Jun 24, 2022)
4-174303836-G-A		not specified	Uncertain significance (Feb 08, 2025)
4-174304249-T-C			Likely benign (Jan 01, 2023)
4-174304299-T-C		not specified	Likely benign (Jun 24, 2022)
4-174304325-G-A		not specified	Uncertain significance (Sep 25, 2023)
4-174304340-A-G		not specified	Likely benign (Jan 23, 2024)
4-174308695-G-A		not specified	Uncertain significance (Apr 08, 2024)
4-174308695-G-T		not specified	Uncertain significance (Sep 14, 2022)
4-174308707-C-T		not specified	Uncertain significance (Jan 31, 2023)
4-174308717-A-G		not specified	Uncertain significance (Mar 07, 2025)
4-174308729-A-G		not specified	Uncertain significance (Jul 31, 2024)
4-174308818-A-T		not specified	Uncertain significance (May 23, 2023)
4-174309851-A-T		not specified	Uncertain significance (Aug 02, 2021)
4-174309939-A-T		not specified	Uncertain significance (Feb 22, 2025)
4-174310004-A-G		not specified	Uncertain significance (Jun 16, 2023)
4-174310785-T-A		not specified	Uncertain significance (Feb 19, 2025)
4-174310795-A-G		not specified	Likely benign (Dec 17, 2023)
4-174310844-A-T		not specified	Uncertain significance (Dec 12, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEP44	protein_coding	protein_coding	ENST00000457424	9	49704

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.27e-7	0.594	125688	0	30	125718	0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.493	184	204	0.903	0.00000998	2622
Missense in Polyphen		57	63.347	0.89981		849
Synonymous	0.552	63	68.8	0.915	0.00000329	731
Loss of Function	1.06	13	17.8	0.730	8.47e-7	242

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000374	0.000374
Ashkenazi Jewish	0.00	0.00
East Asian	0.000114	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000889	0.0000879
Middle Eastern	0.000114	0.000109
South Asian	0.000226	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0992

Intolerance Scores

• rvis_EVS: 1.33
• rvis_percentile_EVS: 94.17

Haploinsufficiency Scores

• pHI: 0.152
• hipred: N
• hipred_score: 0.123
• ghis: 0.425

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: E
• 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: Cep44

Gene ontology

• Cellular component: spindle pole;cytoplasm;centrosome;midbody
• Molecular function: protein binding