ADAM18

ADAM metallopeptidase domain 18, the group of ADAM metallopeptidase domain containing

Basic information

Region (hg38): 8:39584489-39730065

Links

ENSG00000168619 ∙ NCBI:8749 ∙ OMIM:619495 ∙ HGNC:196 ∙ Uniprot:Q9Y3Q7 ∙ 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 ADAM18 gene.

• not_specified (80 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAM18 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014237.3. 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				2		2
missense			72	8		80
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	72	10	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAM18	protein_coding	protein_coding	ENST00000265707	20	145576

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.88e-35	3.53e-7	125391	2	355	125748	0.00142

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.579	406	374	1.08	0.0000181	4868
Missense in Polyphen		137	129.52	1.0578		1730
Synonymous	-1.49	150	129	1.17	0.00000646	1289
Loss of Function	-1.32	47	38.2	1.23	0.00000162	560

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00479	0.00477
Ashkenazi Jewish	0.00251	0.00228
East Asian	0.00667	0.00633
Finnish	0.000236	0.000231
European (Non-Finnish)	0.000732	0.000712
Middle Eastern	0.00667	0.00633
South Asian	0.000427	0.000359
Other	0.00171	0.00163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Sperm surface membrane protein that may be involved in spermatogenesis and fertilization. This is a non catalytic metalloprotease-like protein (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.0820

Intolerance Scores

• loftool: 0.610
• rvis_EVS: 0.59
• rvis_percentile_EVS: 82.35

Haploinsufficiency Scores

• pHI: 0.0689
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0695

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adam18
• Phenotype: normal phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: proteolysis;multicellular organism development;spermatogenesis;cell differentiation
• Cellular component: membrane;integral component of membrane
• Molecular function: metalloendopeptidase activity;metallopeptidase activity