APOOL

apolipoprotein O like, the group of Mitochondrial contact site and cristae organizing system subunits

Basic information

Region (hg38): X:85003877-85093315

Previous symbols: [ "CXorf33", "FAM121A" ]

Links

ENSG00000155008 ∙ NCBI:139322 ∙ OMIM:300955 ∙ HGNC:24009 ∙ Uniprot:Q6UXV4 ∙ 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 APOOL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the APOOL 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			14	2		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	2	0

Variants in APOOL

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

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

Position	Type	Phenotype	Significance	ClinVar
X-85046474-G-C		not specified	Uncertain significance (Dec 16, 2023)
X-85051443-G-T		not specified	Uncertain significance (Jul 29, 2022)
X-85051456-T-C		not specified	Uncertain significance (Mar 07, 2024)
X-85051474-G-A		not specified	Uncertain significance (May 13, 2024)
X-85055869-C-T		not specified	Uncertain significance (Jan 31, 2024)
X-85067172-T-C		not specified	Uncertain significance (May 18, 2022)
X-85067204-G-A		not specified	Likely benign (Apr 01, 2024)
X-85074013-G-A		not specified	Likely benign (Sep 14, 2022)
X-85074030-G-T		not specified	Uncertain significance (May 03, 2023)
X-85074036-T-G		not specified	Uncertain significance (Apr 08, 2022)
X-85074044-C-G		not specified	Uncertain significance (Apr 25, 2023)
X-85074095-C-G			Likely benign (Sep 01, 2022)
X-85074318-C-A		not specified	Uncertain significance (Aug 21, 2023)
X-85074355-A-G		not specified	Uncertain significance (Feb 28, 2024)
X-85074383-C-A		not specified	Uncertain significance (May 26, 2022)
X-85087590-G-T		not specified	Uncertain significance (Oct 14, 2023)
X-85087592-G-T		not specified	Uncertain significance (Mar 17, 2023)
X-85087603-T-A		not specified	Uncertain significance (Apr 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
APOOL	protein_coding	protein_coding	ENST00000373173	9	84238

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0212	0.914	124151	1	0	124152	0.00000403

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.259	80	86.8	0.922	0.00000616	1701
Missense in Polyphen		19	24.028	0.79073		550
Synonymous	-0.627	36	31.5	1.14	0.00000248	521
Loss of Function	1.57	4	9.13	0.438	5.76e-7	206

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000739	0.0000557
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000739	0.0000557
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Specifically binds to cardiolipin (in vitro) but not to the precursor lipid phosphatidylglycerol. Plays a crucial role in crista junction formation and mitochondrial function (PubMed:23704930), (PubMed:25764979). {ECO:0000269|PubMed:23704930, ECO:0000269|PubMed:25764979}.
• Pathway: Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Hemostasis (Consensus)

Intolerance Scores

• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.12

Haploinsufficiency Scores

• pHI: 0.121
• hipred: N
• hipred_score: 0.435
• ghis: 0.562

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: K
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0250

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Apool
• Phenotype: normal phenotype

Gene ontology

• Biological process: platelet degranulation;cristae formation
• Cellular component: extracellular region;mitochondrion;platelet alpha granule lumen;MICOS complex
• Molecular function: protein binding