CEACAM18

CEA cell adhesion molecule 18, the group of V-set domain containing|CEA cell adhesion molecule family

Basic information

Region (hg38): 19:51478539-51491301

Links

ENSG00000213822 ∙ NCBI:729767 ∙ ∙ HGNC:31949 ∙ Uniprot:A8MTB9 ∙ 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 CEACAM18 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEACAM18 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEACAM18	protein_coding	protein_coding	ENST00000451626	5	14369

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.41e-9	0.0806	124601	0	39	124640	0.000156

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0544	219	217	1.01	0.0000116	2572
Missense in Polyphen		44	46.702	0.94214		558
Synonymous	0.0607	88	88.7	0.992	0.00000510	799
Loss of Function	-0.239	12	11.1	1.08	5.25e-7	136

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000404	0.000404
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000111
Finnish	0.00	0.00
European (Non-Finnish)	0.000206	0.000204
Middle Eastern	0.000111	0.000111
South Asian	0.000136	0.000131
Other	0.000166	0.000165

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.906
• rvis_EVS: 1.4
• rvis_percentile_EVS: 94.73

Haploinsufficiency Scores

• pHI: 0.0816
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.122

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ceacam18