ADAMTS8

ADAM metallopeptidase with thrombospondin type 1 motif 8, the group of ADAM metallopeptidases with thrombospondin type 1 motif

Basic information

Region (hg38): 11:130404923-130428609

Links

ENSG00000134917 ∙ NCBI:11095 ∙ OMIM:605175 ∙ HGNC:224 ∙ Uniprot:Q9UP79 ∙ 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 ADAMTS8 gene.

• not_specified (138 variants)
• not_provided (2 variants)
• Oromandibular-limb_hypogenesis_spectrum (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAMTS8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000007037.6. 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			135	4		139
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	136	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAMTS8	protein_coding	protein_coding	ENST00000257359	9	24069

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.20e-10	0.925	124735	1	116	124852	0.000469

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.518	469	502	0.935	0.0000301	5641
Missense in Polyphen		203	210.29	0.96532		2316
Synonymous	-0.309	230	224	1.03	0.0000145	1857
Loss of Function	1.97	21	33.3	0.631	0.00000169	357

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000943	0.000926
Ashkenazi Jewish	0.00	0.00
East Asian	0.000445	0.000445
Finnish	0.000838	0.000835
European (Non-Finnish)	0.000443	0.000424
Middle Eastern	0.000445	0.000445
South Asian	0.000331	0.000327
Other	0.000992	0.000989

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has anti-angiogenic properties.
• Pathway: Post-translational protein modification;Metabolism of proteins;Extracellular matrix organization;Degradation of the extracellular matrix;O-glycosylation of TSR domain-containing proteins;O-linked glycosylation (Consensus)

Recessive Scores

• pRec: 0.123

Intolerance Scores

• loftool: 0.513
• rvis_EVS: 0.67
• rvis_percentile_EVS: 84.74

Haploinsufficiency Scores

• pHI: 0.270
• hipred: N
• hipred_score: 0.300
• ghis: 0.396

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.394

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adamts8

Gene ontology

• Biological process: proteolysis;negative regulation of cell population proliferation;phosphate ion transmembrane transport
• Cellular component: collagen-containing extracellular matrix
• Molecular function: metalloendopeptidase activity;integrin binding;heparin binding;metallopeptidase activity;zinc ion binding;low-affinity phosphate transmembrane transporter activity