ADAM33

ADAM metallopeptidase domain 33, the group of ADAM metallopeptidase domain containing

Basic information

Region (hg38): 20:3667965-3682246

Previous symbols: [ "C20orf153" ]

Links

ENSG00000149451 ∙ NCBI:80332 ∙ OMIM:607114 ∙ HGNC:15478 ∙ Uniprot:Q9BZ11 ∙ 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 ADAM33 gene.

• not_specified (107 variants)
• not_provided (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAM33 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000025220.5. 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	3	5
missense			98	10	3	111
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	98	12	6

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAM33	protein_coding	protein_coding	ENST00000356518	22	14282

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.15e-15	0.804	125660	0	79	125739	0.000314

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.688	423	465	0.910	0.0000282	5126
Missense in Polyphen		154	179.69	0.85703		2168
Synonymous	2.05	162	199	0.815	0.0000132	1614
Loss of Function	1.97	30	44.1	0.680	0.00000236	460

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000496	0.000494
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.000544	0.000489
Finnish	0.00	0.00
European (Non-Finnish)	0.000318	0.000308
Middle Eastern	0.000544	0.000489
South Asian	0.000721	0.000686
Other	0.000334	0.000326

dbNSFP

Source: dbNSFP

• Disease: DISEASE: Asthma (ASTHMA) [MIM:600807]: The most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal dyspnea, with wheezing due to spasmodic contraction of the bronchi. {ECO:0000269|PubMed:12110844, ECO:0000269|PubMed:16773130, ECO:0000269|PubMed:19237393}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Recessive Scores

• pRec: 0.146

Intolerance Scores

• loftool: 0.950
• rvis_EVS: 0.8
• rvis_percentile_EVS: 87.69

Haploinsufficiency Scores

• pHI: 0.115
• hipred: N
• hipred_score: 0.207
• ghis: 0.466

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.352

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adam33
• Phenotype: normal phenotype

Gene ontology

• Biological process: proteolysis
• Cellular component: integral component of membrane
• Molecular function: metalloendopeptidase activity;zinc ion binding