ADAMTS14

ADAM metallopeptidase with thrombospondin type 1 motif 14, the group of ADAM metallopeptidases with thrombospondin type 1 motif

Basic information

Region (hg38): 10:70672506-70762441

Links

ENSG00000138316 ∙ NCBI:140766 ∙ OMIM:607506 ∙ HGNC:14899 ∙ Uniprot:Q8WXS8 ∙ 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 ADAMTS14 gene.

• not_specified (221 variants)
• not_provided (10 variants)
• Fraser_syndrome_3 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAMTS14 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000080722.4. 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				4	2	6
missense			208	16		224
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	208	20	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAMTS14	protein_coding	protein_coding	ENST00000373208	22	89639

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.76e-14	1.00	125643	0	105	125748	0.000418

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.295	746	769	0.970	0.0000492	7886
Missense in Polyphen		307	335.22	0.91582		3394
Synonymous	-0.462	317	307	1.03	0.0000194	2467
Loss of Function	3.41	32	60.6	0.528	0.00000350	612

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000906	0.000902
Ashkenazi Jewish	0.00	0.00
East Asian	0.000327	0.000326
Finnish	0.000190	0.000185
European (Non-Finnish)	0.000543	0.000528
Middle Eastern	0.000327	0.000326
South Asian	0.000362	0.000359
Other	0.000656	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has a aminoprocollagen type I activity processing activity in the absence of ADAMTS2. Seems to be synthesized as a latent enzyme that requires activation to display aminoprocollagen peptidase activity.
• Pathway: Collagen biosynthesis and modifying enzymes;Post-translational protein modification;Metabolism of proteins;Collagen formation;Extracellular matrix organization;O-glycosylation of TSR domain-containing proteins;O-linked glycosylation (Consensus)

Recessive Scores

• pRec: 0.123

Intolerance Scores

• loftool: 0.730
• rvis_EVS: -0.55
• rvis_percentile_EVS: 19.87

Haploinsufficiency Scores

• pHI: 0.216
• hipred: N
• hipred_score: 0.414
• ghis: 0.466

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.106

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adamts14

Gene ontology

• Biological process: proteolysis;collagen fibril organization;collagen catabolic process
• Cellular component: extracellular region
• Molecular function: metalloendopeptidase activity;metal ion binding