ADAMTSL5

ADAMTS like 5, the group of ADAMTS like

Basic information

Region (hg38): 19:1505022-1513604

Previous symbols: [ "THSD6" ]

Links

ENSG00000185761 ∙ NCBI:339366 ∙ ∙ HGNC:27912 ∙ Uniprot:Q6ZMM2 ∙ 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 ADAMTSL5 gene.

• not_specified (95 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAMTSL5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000213604.3. 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						0
missense			89	7		96
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	89	7	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAMTSL5	protein_coding	protein_coding	ENST00000330475	11	8587

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.70e-11	0.311	125606	0	70	125676	0.000279

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.452	304	283	1.08	0.0000181	2926
Missense in Polyphen		82	90.642	0.90466		954
Synonymous	0.0773	120	121	0.991	0.00000772	981
Loss of Function	0.984	19	24.2	0.784	0.00000130	241

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000661	0.000647
Ashkenazi Jewish	0.000217	0.000199
East Asian	0.000840	0.000816
Finnish	0.0000952	0.0000924
European (Non-Finnish)	0.000256	0.000246
Middle Eastern	0.000840	0.000816
South Asian	0.000339	0.000327
Other	0.000169	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in modulation of fibrillin microfibrils in the extracellular matrix (ECM).
• Pathway: Post-translational protein modification;Metabolism of proteins;O-glycosylation of TSR domain-containing proteins;O-linked glycosylation (Consensus)

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.894
• rvis_EVS: 0.44
• rvis_percentile_EVS: 77.85

Haploinsufficiency Scores

• pHI: 0.151
• hipred: N
• hipred_score: 0.170
• ghis: 0.467

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.409

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adamtsl5
• Phenotype: skeleton phenotype; limbs/digits/tail phenotype

Gene ontology

• Cellular component: microfibril;extracellular region;extracellular matrix
• Molecular function: heparin binding