ABCA8

ATP binding cassette subfamily A member 8, the group of ATP binding cassette subfamily A

Basic information

Region (hg38): 17:68867289-68955392

Links

ENSG00000141338 ∙ NCBI:10351 ∙ OMIM:612505 ∙ HGNC:38 ∙ Uniprot:O94911 ∙ 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 ABCA8 gene.

• not_specified (221 variants)
• not_provided (10 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABCA8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001288985.2. 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				3		3
missense			210	12	3	225
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)					1	1
Total	0	0	210	15	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ABCA8	protein_coding	protein_coding	ENST00000269080	37	88101

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.61e-52	3.59e-8	123813	29	1906	125748	0.00772

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.188	829	814	1.02	0.0000415	10347
Missense in Polyphen		236	234.73	1.0054		3245
Synonymous	0.668	297	312	0.952	0.0000174	2974
Loss of Function	0.129	80	81.3	0.985	0.00000393	1065

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0453	0.0452
Ashkenazi Jewish	0.00799	0.00797
East Asian	0.00111	0.00109
Finnish	0.0000930	0.0000924
European (Non-Finnish)	0.00239	0.00235
Middle Eastern	0.00111	0.00109
South Asian	0.00186	0.00173
Other	0.00851	0.00851

dbNSFP

Source: dbNSFP

• Function: FUNCTION: ATP-dependent lipophilic drug transporter. {ECO:0000269|PubMed:12379217}.
• Pathway: ABC transporters - Homo sapiens (human);Transport of small molecules;ABC-family proteins mediated transport (Consensus)

Intolerance Scores

• loftool: 0.0951
• rvis_EVS: 0.91
• rvis_percentile_EVS: 89.47

Haploinsufficiency Scores

• pHI: 0.0567
• hipred: N
• hipred_score: 0.112
• ghis: 0.504

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.154

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Abca8b

Gene ontology

• Biological process: drug transmembrane transport;lipid transport;xenobiotic transport;transmembrane transport
• Cellular component: plasma membrane;integral component of membrane;intracellular membrane-bounded organelle
• Molecular function: lipid transporter activity;ATP binding;xenobiotic transmembrane transporting ATPase activity;ATPase activity, coupled to transmembrane movement of substances