ANGPTL6

angiopoietin like 6, the group of Angiopoietin like family|Fibrinogen C domain containing

Basic information

Region (hg38): 19:10092337-10102678

Links

ENSG00000130812 ∙ NCBI:83854 ∙ OMIM:609336 ∙ HGNC:23140 ∙ Uniprot:Q8NI99 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• intracranial berry aneurysm (Supportive), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANGPTL6 gene.

• Inborn genetic diseases (23 variants)
• not provided (7 variants)
• ANGPTL6-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANGPTL6 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				2	1	3
missense			24	1	2	27
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	4	3

Variants in ANGPTL6

This is a list of pathogenic ClinVar variants found in the ANGPTL6 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-10092639-C-T		not specified	Uncertain significance (Apr 07, 2023)
19-10092686-C-T		not specified	Uncertain significance (Jan 18, 2022)
19-10092711-C-T		not specified	Uncertain significance (Aug 30, 2022)
19-10093392-G-C		not specified	Uncertain significance (Nov 03, 2022)
19-10093451-G-A		not specified	Uncertain significance (Mar 04, 2024)
19-10093456-T-G		ANGPTL6-related disorder	Uncertain significance (Nov 10, 2022)
19-10093460-C-T		not specified	Uncertain significance (Oct 12, 2021)
19-10093467-G-A			Benign (Jun 01, 2023)
19-10093495-G-C		not specified	Uncertain significance (May 31, 2023)
19-10093499-G-A			Benign (Nov 01, 2022)
19-10093508-G-A		not specified	Uncertain significance (Feb 15, 2023)
19-10093552-C-T		not specified	Uncertain significance (Apr 20, 2023)
19-10093606-C-T		not specified	Likely benign (Jan 23, 2023)
19-10093854-G-A		not specified	Uncertain significance (Sep 01, 2021)
19-10093863-C-T		not specified	Uncertain significance (Feb 06, 2024)
19-10094898-C-T		not specified	Uncertain significance (Feb 14, 2023)
19-10096062-C-G		not specified	Uncertain significance (Aug 11, 2022)
19-10096062-C-T		not specified	Uncertain significance (Apr 22, 2022)
19-10096071-G-A		not specified	Uncertain significance (Feb 16, 2023)
19-10096118-T-G		not specified	Uncertain significance (Jun 13, 2022)
19-10096125-A-G		not specified	Uncertain significance (Aug 12, 2021)
19-10096138-G-A			Likely benign (Dec 13, 2017)
19-10096160-G-C			Uncertain significance (Feb 11, 2022)
19-10096160-G-T		not specified	Uncertain significance (Feb 13, 2024)
19-10096172-T-A		ANGPTL6-related disorder	Likely benign (Oct 18, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANGPTL6	protein_coding	protein_coding	ENST00000253109	5	10459

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.37e-8	0.473	125545	0	203	125748	0.000807

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.568	198	222	0.893	0.0000136	2916
Missense in Polyphen		95	103.01	0.92227		1161
Synonymous	2.27	64	91.6	0.699	0.00000524	1015
Loss of Function	0.939	14	18.3	0.763	0.00000105	187

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00154	0.00154
Ashkenazi Jewish	0.00	0.00
East Asian	0.000491	0.000489
Finnish	0.0000929	0.0000924
European (Non-Finnish)	0.000951	0.000950
Middle Eastern	0.000491	0.000489
South Asian	0.000980	0.000980
Other	0.000652	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in the wound healing process. May promote epidermal proliferation, remodeling and regeneration. May promote the chemotactic activity of endothelial cells and induce neovascularization. May counteract high-fat diet-induced obesity and related insulin resistance through increased energy expenditure.

Haploinsufficiency Scores

• pHI: 0.111
• hipred: N
• hipred_score: 0.208
• ghis: 0.606

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.635

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Angptl6
• Phenotype: homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; embryo 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); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: angiogenesis;cell differentiation
• Cellular component: secretory granule;extracellular exosome