ANGPTL8
Basic information
Region (hg38): 19:11237502-11241943
Previous symbols: [ "C19orf80" ]
Links
Phenotypes
GenCC
Source:
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 ANGPTL8 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 | 0 | |||||
missense | 3 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | ||||
non coding | 27 | 39 | 79 | |||
Total | 0 | 4 | 30 | 39 | 9 |
Variants in ANGPTL8
This is a list of pathogenic ClinVar variants found in the ANGPTL8 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-11237504-T-C | Likely benign (Feb 10, 2022) | |||
19-11237506-G-C | Uncertain significance (Jul 01, 2022) | |||
19-11237507-G-C | Likely benign (Jul 03, 2023) | |||
19-11237519-G-A | DOCK6-related disorder | Likely benign (Dec 20, 2021) | ||
19-11237522-G-A | Likely benign (Nov 13, 2023) | |||
19-11237525-C-T | Likely benign (Mar 24, 2023) | |||
19-11237532-C-T | Benign (Jan 22, 2024) | |||
19-11237533-G-A | Inborn genetic diseases | Uncertain significance (Jun 09, 2022) | ||
19-11237534-C-T | Likely benign (Jan 24, 2023) | |||
19-11237536-C-T | DOCK6-related disorder | Benign/Likely benign (Oct 16, 2023) | ||
19-11237537-G-A | Benign/Likely benign (Feb 01, 2024) | |||
19-11237539-G-A | Intellectual disability | Likely benign (Jan 01, 2019) | ||
19-11237541-T-C | Uncertain significance (Jul 06, 2022) | |||
19-11237542-G-A | Adams-Oliver syndrome 2 | Likely pathogenic (Aug 04, 2020) | ||
19-11237559-T-C | Likely pathogenic (Jun 05, 2020) | |||
19-11237572-G-A | Likely benign (Jan 19, 2023) | |||
19-11237622-G-A | Benign (Aug 14, 2023) | |||
19-11237626-G-A | Likely benign (Aug 09, 2022) | |||
19-11237632-A-G | Likely benign (Nov 16, 2023) | |||
19-11237633-C-T | Likely benign (Dec 27, 2023) | |||
19-11237640-C-A | Likely pathogenic (Jan 21, 2024) | |||
19-11237653-G-A | Benign/Likely benign (Jan 16, 2024) | |||
19-11237674-C-T | Benign (Jan 21, 2024) | |||
19-11237675-G-A | Uncertain significance (May 20, 2022) | |||
19-11237678-C-T | Uncertain significance (Feb 17, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ANGPTL8 | protein_coding | protein_coding | ENST00000252453 | 4 | 4442 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
6.88e-12 | 0.00504 | 124502 | 0 | 21 | 124523 | 0.0000843 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.04 | 88 | 120 | 0.733 | 0.00000784 | 1213 |
Missense in Polyphen | 17 | 28.265 | 0.60146 | 353 | ||
Synonymous | 1.50 | 38 | 51.7 | 0.734 | 0.00000312 | 433 |
Loss of Function | -1.66 | 14 | 8.70 | 1.61 | 4.42e-7 | 88 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000376 | 0.000334 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000195 | 0.0000177 |
Middle Eastern | 0.000376 | 0.000334 |
South Asian | 0.000400 | 0.000360 |
Other | 0.000367 | 0.000331 |
dbNSFP
Source:
- Function
- FUNCTION: Hormone that acts as a blood lipid regulator by regulating serum triglyceride levels (PubMed:22569073, PubMed:22809513, PubMed:23150577). May be involved in the metabolic transition between fasting and refeeding: required to direct fatty acids to adipose tissue for storage in the fed state (By similarity). {ECO:0000250|UniProtKB:Q8R1L8, ECO:0000269|PubMed:22569073, ECO:0000269|PubMed:22809513, ECO:0000269|PubMed:23150577}.;
- Disease
- DISEASE: Diabetes mellitus, insulin-dependent (IDDM) [MIM:222100]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000305|PubMed:24078058}. Note=The gene represented in this entry may be involved in disease pathogenesis. Increased protein levels are observed in the serum of patients. This result should however be reinvestigated in light of recent advances that suggest that this protein is not promoting pancreatic beta cell proliferation. {ECO:0000305|PubMed:24078058}.; DISEASE: Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000305|PubMed:24852694, ECO:0000305|PubMed:24963292, ECO:0000305|PubMed:25024395, ECO:0000305|PubMed:25303484}. Note=The gene represented in this entry may be involved in disease pathogenesis. Increased protein levels are observed in the serum of patients and are associated with insulin resistance (PubMed:25024395, PubMed:25303484, PubMed:24963292, PubMed:24852694). According to another report, protein levels are decreased in the serum of patients (PubMed:25050901). Discrepancies between increased and decreased levels of proteins levels in NIDDM patients may be explained by the use of different kits developed on the market that either use antibodies recognizing the N-terminal or the C-terminal part of the protein (PubMed:25099942). These results should however be reinvestigated in light of recent advances that suggest that this protein is not promoting pancreatic beta cell proliferation. {ECO:0000305|PubMed:24852694, ECO:0000305|PubMed:24963292, ECO:0000305|PubMed:25024395, ECO:0000305|PubMed:25050901, ECO:0000305|PubMed:25099942, ECO:0000305|PubMed:25303484}.;
- Pathway
- Cholesterol metabolism - Homo sapiens (human);Angiopoietin Like Protein 8 Regulatory Pathway;Transport of small molecules;Assembly of active LPL and LIPC lipase complexes;Plasma lipoprotein assembly, remodeling, and clearance;Plasma lipoprotein remodeling
(Consensus)
Intolerance Scores
- loftool
- rvis_EVS
- 0.66
- rvis_percentile_EVS
- 84.35
Haploinsufficiency Scores
- pHI
- hipred
- N
- hipred_score
- 0.123
- ghis
- 0.396
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Mouse Genome Informatics
- Gene name
- Angptl8
- Phenotype
- growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- regulation of signaling receptor activity;positive regulation of protein processing;regulation of lipid metabolic process;cellular lipid metabolic process;type B pancreatic cell proliferation;fat cell differentiation;cell maturation;regulation of lipoprotein metabolic process;regulation of lipoprotein lipase activity;triglyceride homeostasis
- Cellular component
- extracellular region
- Molecular function
- hormone activity;protein binding