ANGPTL6

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

Basic information

Region (hg38): 19:10092338-10102678

Links

ENSG00000130812NCBI:83854OMIM:609336HGNC:23140Uniprot:Q8NI99AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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.

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
clinvar
1
clinvar
3
missense
31
clinvar
2
clinvar
2
clinvar
35
nonsense
1
clinvar
1
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 31 5 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)2535314
19-10092686-C-T not specified Uncertain significance (Jan 18, 2022)2366571
19-10092711-C-T not specified Uncertain significance (Aug 30, 2022)2309780
19-10093363-C-T not specified Uncertain significance (Apr 17, 2024)3294224
19-10093392-G-C not specified Uncertain significance (Nov 03, 2022)2322123
19-10093451-G-A not specified Uncertain significance (Mar 04, 2024)3118767
19-10093456-T-G ANGPTL6-related disorder Uncertain significance (Nov 10, 2022)2635520
19-10093460-C-T not specified Uncertain significance (Oct 12, 2021)2254577
19-10093467-G-A Benign (May 01, 2024)778156
19-10093495-G-C not specified Uncertain significance (May 31, 2023)2553647
19-10093499-G-A Benign (Nov 01, 2022)2649280
19-10093508-G-A not specified Uncertain significance (Feb 15, 2023)2459555
19-10093552-C-T not specified Uncertain significance (Apr 20, 2023)2561594
19-10093606-C-T not specified Likely benign (Jan 23, 2023)2469403
19-10093854-G-A not specified Uncertain significance (Sep 01, 2021)2388696
19-10093863-C-T not specified Uncertain significance (Feb 06, 2024)3118820
19-10094807-C-A not specified Uncertain significance (May 15, 2024)3294253
19-10094898-C-T not specified Uncertain significance (Feb 14, 2023)2470383
19-10096062-C-G not specified Uncertain significance (Aug 11, 2022)2306543
19-10096062-C-T not specified Uncertain significance (Apr 22, 2022)2284849
19-10096071-G-A not specified Uncertain significance (Feb 16, 2023)2486526
19-10096118-T-G not specified Uncertain significance (Jun 13, 2022)2352542
19-10096125-A-G not specified Uncertain significance (Aug 12, 2021)2243242
19-10096138-G-A Likely benign (Dec 13, 2017)738121
19-10096160-G-C Uncertain significance (Feb 11, 2022)2096315

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ANGPTL6protein_codingprotein_codingENST00000253109 510459
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.37e-80.47312554502031257480.000807
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5681982220.8930.00001362916
Missense in Polyphen95103.010.922271161
Synonymous2.276491.60.6990.000005241015
Loss of Function0.9391418.30.7630.00000105187

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001540.00154
Ashkenazi Jewish0.000.00
East Asian0.0004910.000489
Finnish0.00009290.0000924
European (Non-Finnish)0.0009510.000950
Middle Eastern0.0004910.000489
South Asian0.0009800.000980
Other0.0006520.000652

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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
Molecular function