ADAM32

ADAM metallopeptidase domain 32, the group of ADAM metallopeptidase domain containing

Basic information

Region (hg38): 8:39106990-39284917

Links

ENSG00000197140 ∙ NCBI:203102 ∙ OMIM:618602 ∙ HGNC:15479 ∙ Uniprot:Q8TC27 ∙ 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 ADAM32 gene.

• not_specified (101 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAM32 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000145004.7. 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				3		3
missense			88	12		100
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	88	15	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAM32	protein_coding	protein_coding	ENST00000379907	25	177922

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.16e-15	0.804	124575	1	50	124626	0.000205

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.289	346	361	0.957	0.0000177	5118
Missense in Polyphen		98	121.14	0.80901		1788
Synonymous	0.265	120	124	0.970	0.00000657	1382
Loss of Function	1.97	30	44.1	0.680	0.00000212	654

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000153	0.000153
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000558	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.000200	0.000195
Middle Eastern	0.0000558	0.0000556
South Asian	0.000675	0.000621
Other	0.000662	0.000661

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in sperm development and fertilization This is a non-catalytic metalloprotease-like protein. {ECO:0000250}.

Recessive Scores

• pRec: 0.0756

Intolerance Scores

• rvis_EVS: 0.38
• rvis_percentile_EVS: 75.63

Haploinsufficiency Scores

• pHI: 0.0574
• hipred: N
• hipred_score: 0.158

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0571

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adam32

Gene ontology

• Biological process: proteolysis
• Cellular component: integral component of membrane
• Molecular function: metalloendopeptidase activity