ANGPTL6
Basic information
Region (hg38): 19:10092338-10102678
Links
Phenotypes
GenCC
Source:
- intracranial berry aneurysm (Supportive), mode of inheritance: AD
ClinVar
This is a list of variants' phenotypes submitted to
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 | 3 | |||||
missense | 31 | 35 | ||||
nonsense | 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) | ||
19-10092686-C-T | not specified | Uncertain significance (Jan 18, 2022) | ||
19-10092711-C-T | not specified | Uncertain significance (Aug 30, 2022) | ||
19-10093363-C-T | not specified | Uncertain significance (Apr 17, 2024) | ||
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 (May 01, 2024) | |||
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) | ||
19-10094807-C-A | not specified | Uncertain significance (May 15, 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) |
GnomAD
Source:
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:
- 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
- Molecular function