ABCA11P

ATP binding cassette subfamily A member 11, pseudogene, the group of ATP binding cassette subfamily A

Basic information

Region (hg38): 4:425773-427882

Previous symbols: [ "ABCA11" ]

Links

ENSG00000251595

∙ NCBI:79963 ∙ ∙ HGNC:31 ∙ ∙ ∙ 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 ABCA11P gene.

Inborn genetic diseases (42 variants)
not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABCA11P 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			39 clinvar	6 clinvar	2 clinvar	47
Total	0	0	39	6	2

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Pathway: Vitamin D Receptor Pathway (Consensus)

Haploinsufficiency Scores

pHI: 0.0318
hipred
hipred_score
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
gene_indispensability_pred: N
gene_indispensability_score: 0.341

Gene ontology

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