CERCAM

cerebral endothelial cell adhesion molecule

Basic information

Region (hg38): 9:128411751-128437351

Previous symbols: [ "CEECAM1" ]

Links

ENSG00000167123 ∙ NCBI:51148 ∙ OMIM:616626 ∙ HGNC:23723 ∙ Uniprot:Q5T4B2 ∙ 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 CERCAM gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CERCAM 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			47	3		50
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	47	3	0

Variants in CERCAM

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

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

Position	Type	Phenotype	Significance	ClinVar
9-128420890-C-G		not specified	Uncertain significance (Jan 18, 2022)
9-128420930-C-T		not specified	Likely benign (Dec 12, 2023)
9-128420963-C-T		not specified	Uncertain significance (Mar 20, 2024)
9-128420992-G-A		not specified	Uncertain significance (Feb 26, 2024)
9-128422894-A-G		not specified	Uncertain significance (Oct 03, 2022)
9-128422948-C-T		not specified	Uncertain significance (May 31, 2023)
9-128422951-T-G		not specified	Uncertain significance (Jan 06, 2023)
9-128423242-C-A		not specified	Uncertain significance (Aug 02, 2023)
9-128424169-A-G		not specified	Uncertain significance (Dec 07, 2021)
9-128424180-C-T		not specified	Uncertain significance (Jul 19, 2022)
9-128424270-C-G		not specified	Uncertain significance (Aug 02, 2021)
9-128424439-C-A		not specified	Uncertain significance (Mar 01, 2024)
9-128424474-G-A		not specified	Uncertain significance (Aug 17, 2022)
9-128424539-T-C		not specified	Uncertain significance (Feb 21, 2024)
9-128424546-C-T		not specified	Uncertain significance (Feb 27, 2023)
9-128424587-G-A		not specified	Uncertain significance (Jul 30, 2023)
9-128424590-T-G		not specified	Uncertain significance (Sep 28, 2022)
9-128428307-T-G		not specified	Likely benign (Jun 29, 2023)
9-128428332-G-A		not specified	Uncertain significance (Dec 17, 2023)
9-128428335-A-G		not specified	Uncertain significance (Mar 28, 2024)
9-128428371-G-A		not specified	Uncertain significance (Aug 16, 2022)
9-128428412-G-C		not specified	Uncertain significance (Nov 20, 2023)
9-128428416-C-G		not specified	Uncertain significance (Mar 21, 2023)
9-128428768-C-T		not specified	Uncertain significance (Jan 09, 2024)
9-128428769-G-A		not specified	Uncertain significance (Oct 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CERCAM	protein_coding	protein_coding	ENST00000372838	12	25597

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000114	0.988	125696	0	52	125748	0.000207

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.167	359	368	0.975	0.0000241	3821
Missense in Polyphen		144	149.91	0.96061		1536
Synonymous	0.851	138	151	0.912	0.0000100	1214
Loss of Function	2.28	14	26.7	0.524	0.00000114	302

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000387	0.000387
Ashkenazi Jewish	0.00	0.00
East Asian	0.000326	0.000326
Finnish	0.0000520	0.0000462
European (Non-Finnish)	0.000194	0.000193
Middle Eastern	0.000326	0.000326
South Asian	0.000360	0.000359
Other	0.000332	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable cell adhesion protein involved in leukocyte transmigration across the blood-brain barrier. Does not express any beta-galactosyltransferase activity in vitro. {ECO:0000269|PubMed:10608765, ECO:0000269|PubMed:19075007}.
• Pathway: Lysine metabolism (Consensus)

Recessive Scores

• pRec: 0.0956

Intolerance Scores

• loftool: 0.350
• rvis_EVS: 0.36
• rvis_percentile_EVS: 74.7

Haploinsufficiency Scores

• pHI: 0.0727
• hipred: N
• hipred_score: 0.466
• ghis: 0.495

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.269

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cercam

Gene ontology

• Biological process: cell adhesion;leukocyte cell-cell adhesion
• Cellular component: endoplasmic reticulum lumen;plasma membrane