APOH

apolipoprotein H, the group of Apolipoproteins|Sushi domain containing

Basic information

Region (hg38): 17:66212032-66256525

Previous symbols: [ "B2G1" ]

Links

ENSG00000091583 ∙ NCBI:350 ∙ OMIM:138700 ∙ HGNC:616 ∙ Uniprot:P02749 ∙ 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 APOH gene.

• Inborn genetic diseases (12 variants)
• not provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the APOH 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	3
missense			11	1	3	15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding					1	1
Total	0	0	11	1	7

Variants in APOH

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

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

Position	Type	Phenotype	Significance	ClinVar
17-66212173-G-A		not specified	Uncertain significance (Oct 06, 2022)
17-66214515-C-T		not specified	Uncertain significance (Sep 14, 2021)
17-66214577-A-C		not specified	Uncertain significance (Aug 13, 2021)
17-66214630-T-C		not specified	Uncertain significance (Jul 25, 2023)
17-66214639-C-A		APOH POLYMORPHISM	Benign (May 01, 1993)
17-66214644-C-A		not specified	Uncertain significance (Feb 27, 2024)
17-66216920-A-G		not specified	Uncertain significance (Jan 17, 2024)
17-66220574-G-A		not specified	Uncertain significance (Nov 23, 2022)
17-66220576-C-G		not specified	Uncertain significance (Sep 22, 2023)
17-66220614-C-T		not specified	Uncertain significance (Nov 09, 2021)
17-66220650-C-T		not specified	Uncertain significance (Apr 25, 2023)
17-66220679-G-T			Benign (Feb 08, 2018)
17-66220681-T-C			Benign (Apr 06, 2018)
17-66220691-T-C		not specified	Uncertain significance (Nov 08, 2022)
17-66220697-C-T			Benign (Oct 28, 2020)
17-66223717-C-T			Benign (Mar 29, 2018)
17-66223739-G-A		not specified	Uncertain significance (May 18, 2023)
17-66223758-C-T		not specified	Likely benign (May 26, 2023)
17-66226018-A-C			Benign (Feb 08, 2018)
17-66226052-G-T		not specified	Uncertain significance (Jul 20, 2021)
17-66226109-A-G		not specified	Uncertain significance (Feb 23, 2023)
17-66226124-G-T		not specified	Uncertain significance (Aug 11, 2022)
17-66228037-T-C			Benign (Aug 15, 2018)
17-66228102-C-A			Benign (Jul 10, 2017)
17-66228139-T-C		not specified	Uncertain significance (Jan 30, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
APOH	protein_coding	protein_coding	ENST00000205948	8	44493

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.56e-15	0.00354	125587	0	160	125747	0.000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.276	182	193	0.944	0.0000103	2243
Missense in Polyphen		63	64.527	0.97634		746
Synonymous	-0.288	76	72.9	1.04	0.00000426	646
Loss of Function	-0.637	21	18.1	1.16	0.00000104	226

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000763	0.000762
Ashkenazi Jewish	0.00	0.00
East Asian	0.00430	0.00430
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000251	0.000246
Middle Eastern	0.00430	0.00430
South Asian	0.000987	0.000980
Other	0.000491	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds to various kinds of negatively charged substances such as heparin, phospholipids, and dextran sulfate. May prevent activation of the intrinsic blood coagulation cascade by binding to phospholipids on the surface of damaged cells.
• Pathway: Cholesterol metabolism - Homo sapiens (human);Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Hemostasis (Consensus)

Recessive Scores

• pRec: 0.650

Intolerance Scores

• loftool: 0.859
• rvis_EVS: 0.95
• rvis_percentile_EVS: 90.09

Haploinsufficiency Scores

• pHI: 0.269
• hipred: N
• hipred_score: 0.281
• ghis: 0.878

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.996

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Apoh
• Phenotype: 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); homeostasis/metabolism phenotype

Gene ontology

• Biological process: negative regulation of endothelial cell proliferation;platelet degranulation;triglyceride metabolic process;blood coagulation, intrinsic pathway;negative regulation of endothelial cell migration;negative regulation of angiogenesis;positive regulation of blood coagulation;negative regulation of blood coagulation;plasminogen activation;negative regulation of myeloid cell apoptotic process;triglyceride transport;negative regulation of smooth muscle cell apoptotic process;positive regulation of lipoprotein lipase activity;regulation of fibrinolysis;negative regulation of fibrinolysis
• Cellular component: extracellular region;extracellular space;cell surface;platelet dense granule lumen;very-low-density lipoprotein particle;high-density lipoprotein particle;chylomicron;collagen-containing extracellular matrix;extracellular exosome
• Molecular function: protein binding;phospholipid binding;heparin binding;lipid binding;identical protein binding;lipoprotein lipase activator activity