CEACAM4

CEA cell adhesion molecule 4, the group of CEA cell adhesion molecule family|V-set domain containing

Basic information

Region (hg38): 19:41619015-41627074

Previous symbols: [ "CGM7" ]

Links

ENSG00000105352NCBI:1089OMIM:619159HGNC:1816Uniprot:O75871AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CEACAM4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEACAM4 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
17
clinvar
2
clinvar
19
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 17 2 0

Variants in CEACAM4

This is a list of pathogenic ClinVar variants found in the CEACAM4 region.

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

Position Type Phenotype Significance ClinVar
19-41619337-A-G not specified Uncertain significance (Apr 08, 2024)2347719
19-41619340-A-G not specified Uncertain significance (Oct 16, 2023)3141826
19-41619356-C-T not specified Uncertain significance (Feb 11, 2025)3831129
19-41619680-G-A not specified Uncertain significance (Aug 02, 2021)2387721
19-41620595-G-A not specified Uncertain significance (Apr 01, 2024)3265672
19-41621694-C-T not specified Uncertain significance (Aug 14, 2024)3489872
19-41621742-C-G not specified Uncertain significance (Jun 25, 2024)3489870
19-41625631-C-T not specified Uncertain significance (Jan 03, 2024)3141825
19-41625637-C-T not specified Uncertain significance (Mar 21, 2024)3265671
19-41625646-C-T not specified Uncertain significance (Feb 05, 2024)3141824
19-41625651-A-G not specified Uncertain significance (May 13, 2024)3265669
19-41625685-G-C not specified Uncertain significance (Jan 17, 2024)3141823
19-41625732-C-T not specified Uncertain significance (Jun 29, 2023)2608262
19-41625739-T-A not specified Uncertain significance (Jun 30, 2023)2607148
19-41625810-G-A not specified Uncertain significance (Aug 15, 2023)2594205
19-41625919-A-G not specified Likely benign (Jul 30, 2024)3489871
19-41625936-G-A not specified Likely benign (Sep 15, 2021)2207057
19-41625939-T-C not specified Uncertain significance (Apr 07, 2022)2282159
19-41626939-G-A not specified Uncertain significance (Aug 16, 2021)2395451
19-41626957-G-C not specified Uncertain significance (Jan 23, 2023)2470540

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CEACAM4protein_codingprotein_codingENST00000221954 78099
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
6.12e-80.257124743179611257210.00390
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.7471571331.180.000006851527
Missense in Polyphen2219.6971.1169278
Synonymous-0.9166758.11.150.00000347527
Loss of Function0.4241213.70.8769.36e-7128

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.05490.0541
Ashkenazi Jewish0.0001010.0000993
East Asian0.0002200.000217
Finnish0.00004640.0000462
European (Non-Finnish)0.0001690.000167
Middle Eastern0.0002200.000217
South Asian0.0001640.000163
Other0.003160.00310

dbNSFP

Source: dbNSFP

Function
FUNCTION: Granulocyte orphan receptor that acts as an trigger efficient phagocytosis of attached particles. {ECO:0000269|PubMed:25567962}.;

Recessive Scores

pRec
0.0836

Intolerance Scores

loftool
0.835
rvis_EVS
1.02
rvis_percentile_EVS
90.92

Haploinsufficiency Scores

pHI
0.0535
hipred
N
hipred_score
0.112
ghis
0.473

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.00946

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
phagocytosis
Cellular component
integral component of plasma membrane;membrane
Molecular function