APOLD1

apolipoprotein L domain containing 1, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 12:12725917-12829975

Links

ENSG00000178878 ∙ NCBI:81575 ∙ OMIM:612456 ∙ HGNC:25268 ∙ Uniprot:Q96LR9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Bleeding disorder, vascular-type	AD	Hematologic	The condition can involve increased risk of bleeding, and awareness may allow preventive measures (such as related to surgical situations) and early management of bleeding episodes	Hematologic	35638551

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the APOLD1 gene.

• not_specified (52 variants)
• Bleeding_disorder,_vascular-type (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the APOLD1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000030817.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense	1		52			53
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	1	0	52	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
APOLD1	protein_coding	protein_coding	ENST00000326765	2	104059

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000117	0.395	125728	0	18	125746	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.449	120	135	0.891	0.00000717	1694
Missense in Polyphen		47	52.527	0.89477		699
Synonymous	1.18	51	62.9	0.811	0.00000340	631
Loss of Function	0.103	6	6.28	0.956	2.70e-7	73

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000617	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000468	0.0000462
European (Non-Finnish)	0.0000987	0.0000967
Middle Eastern	0.00	0.00
South Asian	0.000167	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in angiogenesis. May play a role in activity-dependent changes of brain vasculature. May affect blood- brain permeability. {ECO:0000269|PubMed:15102925}.

Haploinsufficiency Scores

• pHI: 0.158
• hipred: N
• hipred_score: 0.272
• ghis: 0.502

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: H
• gene_indispensability_pred: N
• gene_indispensability_score: 0.410

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Apold1

Gene ontology

• Biological process: angiogenesis;response to hypoxia;lipid transport;cell differentiation;endothelial cell activation;lipoprotein metabolic process;regulation of endothelial cell differentiation
• Cellular component: extracellular region;nucleoplasm;cytosol;plasma membrane;integral component of membrane
• Molecular function: lipid binding