CEACAM19

CEA cell adhesion molecule 19, the group of CEA cell adhesion molecule family|V-set domain containing

Basic information

Region (hg38): 19:44662278-44684359

Links

ENSG00000186567 ∙ NCBI:56971 ∙ OMIM:606691 ∙ HGNC:31951 ∙ Uniprot:Q7Z692 ∙ 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 CEACAM19 gene.

• not_specified (27 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEACAM19 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001127893.3. 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			25	2		27
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	25	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEACAM19	protein_coding	protein_coding	ENST00000403660	8	22087

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.61e-10	0.0723	125660	1	83	125744	0.000334

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.474	141	158	0.894	0.00000855	1914
Missense in Polyphen		33	37.889	0.87096		514
Synonymous	1.74	48	66.0	0.727	0.00000382	622
Loss of Function	-0.0526	14	13.8	1.02	6.64e-7	156

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000321	0.000305
Ashkenazi Jewish	0.00	0.00
East Asian	0.00222	0.00207
Finnish	0.00	0.00
European (Non-Finnish)	0.000183	0.000176
Middle Eastern	0.00222	0.00207
South Asian	0.000621	0.000588
Other	0.000182	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.913
• rvis_EVS: 0
• rvis_percentile_EVS: 53.73

Haploinsufficiency Scores

• pHI: 0.141
• hipred: N
• hipred_score: 0.123
• ghis: 0.491

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.296

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ceacam19

Gene ontology

• Cellular component: integral component of membrane
• Molecular function: protein binding