ADAMTS7

ADAM metallopeptidase with thrombospondin type 1 motif 7, the group of ADAM metallopeptidases with thrombospondin type 1 motif

Basic information

Region (hg38): 15:78759205-78811464

Links

ENSG00000136378 ∙ NCBI:11173 ∙ OMIM:605009 ∙ HGNC:223 ∙ Uniprot:Q9UKP4 ∙ 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 ADAMTS7 gene.

• Inborn genetic diseases (102 variants)
• not provided (22 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAMTS7 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				12	1	13
missense			92	14	2	108
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	92	26	3

Variants in ADAMTS7

This is a list of pathogenic ClinVar variants found in the ADAMTS7 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
15-78759425-C-T		not specified	Uncertain significance (Aug 13, 2021)
15-78759437-C-T		not specified	Uncertain significance (Feb 06, 2024)
15-78759485-C-T		not specified	Uncertain significance (Dec 06, 2022)
15-78759500-C-T		not specified	Uncertain significance (Aug 28, 2023)
15-78759509-G-A		not specified	Uncertain significance (Mar 06, 2023)
15-78759522-G-A		not specified	Uncertain significance (Oct 05, 2023)
15-78759533-C-T		not specified	Uncertain significance (Nov 18, 2022)
15-78759534-G-A		not specified	Uncertain significance (May 03, 2023)
15-78762415-C-T		not specified	Uncertain significance (Jan 08, 2024)
15-78762430-C-T		not specified	Uncertain significance (Apr 27, 2022)
15-78762441-G-A		not specified	Uncertain significance (Jan 06, 2023)
15-78762445-G-A		not specified	Uncertain significance (Jan 30, 2024)
15-78762520-A-G		not specified	Uncertain significance (Nov 09, 2022)
15-78762547-C-G		not specified	Uncertain significance (Aug 20, 2023)
15-78763726-C-A			Likely benign (Mar 01, 2023)
15-78763754-G-A		not specified	Uncertain significance (Jul 06, 2021)
15-78763779-C-T		not specified	Uncertain significance (Jun 22, 2021)
15-78763780-G-A			Benign/Likely benign (Dec 01, 2022)
15-78763837-C-A		not specified	Uncertain significance (Dec 17, 2023)
15-78763839-C-T		not specified	Uncertain significance (Aug 05, 2023)
15-78764004-G-A			Likely benign (Jul 01, 2022)
15-78764023-C-T		not specified	Uncertain significance (Jun 07, 2023)
15-78764041-C-T		not specified	Uncertain significance (Sep 22, 2023)
15-78764056-T-C		not specified	Uncertain significance (Jun 09, 2022)
15-78764060-C-T		not specified	Uncertain significance (Sep 01, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAMTS7	protein_coding	protein_coding	ENST00000388820	24	52229

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.25e-14	1.00	125653	1	94	125748	0.000378

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.711	960	1.02e+3	0.937	0.0000702	10648
Missense in Polyphen		297	371.93	0.79853		4014
Synonymous	-1.09	468	439	1.07	0.0000325	3477
Loss of Function	4.03	35	71.9	0.487	0.00000367	743

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000775	0.000762
Ashkenazi Jewish	0.000728	0.000695
East Asian	0.000504	0.000489
Finnish	0.0000956	0.0000924
European (Non-Finnish)	0.000362	0.000352
Middle Eastern	0.000504	0.000489
South Asian	0.000575	0.000523
Other	0.000823	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Metalloprotease that may play a role in the degradation of COMP. {ECO:0000269|PubMed:16585064}.
• Pathway: Post-translational protein modification;Metabolism of proteins;O-glycosylation of TSR domain-containing proteins;O-linked glycosylation (Consensus)

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.623
• rvis_EVS: 2.52
• rvis_percentile_EVS: 98.68

Haploinsufficiency Scores

• pHI: 0.122
• hipred: N
• hipred_score: 0.411
• ghis: 0.474

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.109

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adamts7
• Phenotype: homeostasis/metabolism phenotype; cellular phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; liver/biliary system phenotype

Gene ontology

• Biological process: negative regulation of chondrocyte differentiation;proteolysis involved in cellular protein catabolic process;cellular response to interleukin-1;cellular response to tumor necrosis factor;cellular response to BMP stimulus
• Cellular component: extracellular region;endoplasmic reticulum lumen;cell surface
• Molecular function: metalloendopeptidase activity;protein binding;metallopeptidase activity;metal ion binding