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.

• not_specified (40 variants)

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. These statistics are base on transcript: NM_001048212.3. 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	5		40
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	35	5	0

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