ABCB8

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

Basic information

Region (hg38): 7:151028422-151047782

Links

ENSG00000197150 ∙ NCBI:11194 ∙ OMIM:605464 ∙ HGNC:49 ∙ Uniprot:Q9NUT2 ∙ 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 ABCB8 gene.

• not_specified (97 variants)
• not_provided (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABCB8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000007188.5. 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	4	7
missense			88	7	3	98
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	88	10	7

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ABCB8	protein_coding	protein_coding	ENST00000358849	16	19360

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.92e-15	0.188	125637	0	111	125748	0.000441

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.299	452	470	0.961	0.0000314	4538
Missense in Polyphen		147	170.55	0.86193		1613
Synonymous	1.05	189	208	0.908	0.0000136	1614
Loss of Function	1.18	27	34.5	0.784	0.00000188	335

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000654	0.000652
Ashkenazi Jewish	0.00	0.00
East Asian	0.00175	0.00174
Finnish	0.000140	0.000139
European (Non-Finnish)	0.000294	0.000290
Middle Eastern	0.00175	0.00174
South Asian	0.000927	0.000882
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: ABC transporters - Homo sapiens (human);Transport of small molecules;ABC-family proteins mediated transport;Mitochondrial ABC transporters (Consensus)

Recessive Scores

• pRec: 0.155

Intolerance Scores

• loftool: 0.118
• rvis_EVS: 0.3
• rvis_percentile_EVS: 71.64

Haploinsufficiency Scores

• pHI: 0.192
• hipred: N
• hipred_score: 0.414
• ghis: 0.524

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.947

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Abcb8
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); homeostasis/metabolism phenotype; muscle phenotype

Gene ontology

• Biological process: transmembrane transport
• Cellular component: nucleus;nucleolus;mitochondrion;mitochondrial envelope;mitochondrial inner membrane;membrane;integral component of membrane;ATP-binding cassette (ABC) transporter complex
• Molecular function: transporter activity;ATP binding;ATPase activity, coupled to transmembrane movement of substances