CEMP1

cementum protein 1

Basic information

Region (hg38): 16:2530035-2531417

Links

ENSG00000205923 ∙ NCBI:752014 ∙ OMIM:611113 ∙ HGNC:32553 ∙ Uniprot:Q6PRD7 ∙ 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 CEMP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEMP1 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			20	4		24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	21	4	0

Variants in CEMP1

This is a list of pathogenic ClinVar variants found in the CEMP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-2530282-C-G		not specified	Uncertain significance (Aug 23, 2021)
16-2530379-C-A		not specified	Uncertain significance (Mar 11, 2024)
16-2530476-T-C		not specified	Uncertain significance (Jan 27, 2025)
16-2530530-C-G		not specified	Uncertain significance (Oct 21, 2021)
16-2530565-C-T		not specified	Uncertain significance (Mar 30, 2024)
16-2530591-C-A		not specified	Uncertain significance (Dec 06, 2021)
16-2530608-C-T		not specified	Likely benign (Sep 20, 2023)
16-2530611-G-A		not specified	Likely benign (Oct 12, 2024)
16-2530611-G-T		not specified	Uncertain significance (Jul 25, 2023)
16-2530616-G-A		not specified	Uncertain significance (Aug 03, 2022)
16-2530642-C-G		not specified	Uncertain significance (Jun 16, 2023)
16-2530663-A-C		not specified	Uncertain significance (Jul 10, 2024)
16-2530675-C-G		not specified	Uncertain significance (Dec 14, 2023)
16-2530709-G-A		not specified	Uncertain significance (Jun 28, 2022)
16-2530721-C-T		not specified	Uncertain significance (May 15, 2024)
16-2530793-C-T		not specified	Uncertain significance (Nov 27, 2023)
16-2530811-G-A		not specified	Uncertain significance (Dec 13, 2022)
16-2530820-C-A		not specified	Uncertain significance (Dec 24, 2024)
16-2530836-G-A		not specified	Uncertain significance (Aug 23, 2021)
16-2530889-G-A		not specified	Uncertain significance (Jan 05, 2022)
16-2530901-G-A		not specified	Likely benign (Dec 28, 2022)
16-2530902-C-T		not specified	Likely benign (Mar 21, 2023)
16-2530953-G-A		not specified	Uncertain significance (Sep 02, 2024)
16-2530970-G-C		not specified	Uncertain significance (Oct 06, 2022)
16-2530980-G-A		not specified	Uncertain significance (Jan 18, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEMP1	protein_coding	protein_coding	ENST00000382350	1	4340

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.21	186	145	1.28	0.00000800	1562
Missense in Polyphen		24	16.091	1.4915		164
Synonymous	-1.63	78	61.7	1.26	0.00000362	561
Loss of Function

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in development of the periodontium which surrounds and supports the teeth by promoting the differentiation of multi-potent cells from the periodontal ligament into cementoblasts to form the cementum (PubMed:21929512, PubMed:17509525, PubMed:21465469). Binds hydroxyapatite and may promote the biomineralization of the cementum (PubMed:19393626). Also promotes cell proliferation (PubMed:17509525, PubMed:21929512, PubMed:26011628). {ECO:0000269|PubMed:17509525, ECO:0000269|PubMed:19393626, ECO:0000269|PubMed:21465469, ECO:0000269|PubMed:21929512, ECO:0000269|PubMed:26011628}.

Intolerance Scores

• rvis_EVS: 0.31
• rvis_percentile_EVS: 72.38

Haploinsufficiency Scores

• pHI: 0.0807
• hipred: N
• hipred_score: 0.146
• ghis: 0.550

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00319

Gene Damage Prediction

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

Gene ontology

• Biological process: cell population proliferation;cell differentiation;biomineral tissue development;odontogenesis
• Cellular component: nucleus;cytoplasm
• Molecular function: hydroxyapatite binding