ADAM30

ADAM metallopeptidase domain 30, the group of ADAM metallopeptidase domain containing

Basic information

Region (hg38): 1:119893533-119896515

Links

ENSG00000134249 ∙ NCBI:11085 ∙ OMIM:604779 ∙ HGNC:208 ∙ Uniprot:Q9UKF2 ∙ 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 ADAM30 gene.

• not_specified (108 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAM30 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000021794.4. 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				1		1
missense			100	8		108
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	100	9	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAM30	protein_coding	protein_coding	ENST00000369400	1	2963

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.433	409	434	0.941	0.0000232	5209
Missense in Polyphen		125	149.68	0.83512		1844
Synonymous	-1.21	180	160	1.12	0.00000873	1509
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in lysosomal amyloid precursor protein (APP) processing by cleaving and activating CTSD/cathepsin D which leads to APP degradation (PubMed:27333034). {ECO:0000269|PubMed:27333034}.
• Pathway: Interaction With The Zona Pellucida;Fertilization;Reproduction (Consensus)

Intolerance Scores

• loftool: 0.817
• rvis_EVS: -0.31
• rvis_percentile_EVS: 32.23

Haploinsufficiency Scores

• pHI: 0.0317
• hipred: N
• hipred_score: 0.203
• ghis: 0.417

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.286

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adam30

Gene ontology

• Biological process: proteolysis;binding of sperm to zona pellucida
• Cellular component: plasma membrane;external side of plasma membrane;integral component of membrane;late endosome membrane;sperm head plasma membrane
• Molecular function: metalloendopeptidase activity;metallopeptidase activity;zinc ion binding