FABP6

fatty acid binding protein 6, the group of Fatty acid binding protein family

Basic information

Region (hg38): 5:160187366-160238735

Links

ENSG00000170231 ∙ NCBI:2172 ∙ OMIM:600422 ∙ HGNC:3561 ∙ Uniprot:P51161 ∙ 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 FABP6 gene.

• Inborn genetic diseases (9 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FABP6 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					1	1
missense			9		1	10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	2

Variants in FABP6

This is a list of pathogenic ClinVar variants found in the FABP6 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-160199120-C-T		not specified	Uncertain significance (Jul 20, 2021)
5-160229579-G-A		not specified	Uncertain significance (Nov 12, 2021)
5-160229619-T-A			Benign (Jan 26, 2018)
5-160229620-C-T			Benign (Jan 26, 2018)
5-160232108-C-A		not specified	Uncertain significance (Nov 03, 2023)
5-160232125-C-T		not specified	Uncertain significance (Jan 17, 2024)
5-160232176-C-A		not specified	Uncertain significance (Mar 16, 2022)
5-160232197-G-T		not specified	Uncertain significance (Feb 16, 2023)
5-160232210-G-C		not specified	Uncertain significance (Oct 06, 2021)
5-160232251-C-T		not specified	Uncertain significance (Feb 23, 2023)
5-160234841-G-A		not specified	Uncertain significance (Jan 10, 2023)
5-160238639-G-C		not specified	Uncertain significance (Aug 02, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FABP6	protein_coding	protein_coding	ENST00000393980	6	51369

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000155	0.243	125735	0	12	125747	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.495	93	107	0.866	0.00000626	1177
Missense in Polyphen		25	32.914	0.75956		369
Synonymous	-1.74	58	43.4	1.34	0.00000310	309
Loss of Function	0.0774	9	9.25	0.973	3.92e-7	112

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000175	0.000175
Ashkenazi Jewish	0.00	0.00
East Asian	0.000120	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.00000882	0.00000879
Middle Eastern	0.000120	0.000109
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds to bile acids and is involved in enterohepatic bile acid metabolism. Required for efficient apical to basolateral transport of conjugated bile acids in ileal enterocytes (By similarity). In vitro binds to bile acids in the order: deoxycholic acid > cholic acid > chenodeoxycholic acid and respective BA conjugation modifies affinities in the order taurine-conjugated > glycine-conjugated > unconjugated bile acids. Stimulates gastric acid and pepsinogen secretion (By similarity). {ECO:0000250|UniProtKB:P10289, ECO:0000250|UniProtKB:P51162, ECO:0000269|PubMed:12486725, ECO:0000269|PubMed:7588781}.
• Pathway: PPAR signaling pathway - Homo sapiens (human);PPAR signaling pathway;Metabolism of lipids;Metabolism;Recycling of bile acids and salts;Bile acid and bile salt metabolism;Metabolism of steroids;Triglyceride catabolism;Triglyceride metabolism (Consensus)

Recessive Scores

• pRec: 0.165

Intolerance Scores

• loftool: 0.845
• rvis_EVS: 0.04
• rvis_percentile_EVS: 56.92

Haploinsufficiency Scores

• pHI: 0.154
• hipred: N
• hipred_score: 0.146
• ghis: 0.524

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.232

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fabp6
• Phenotype: homeostasis/metabolism phenotype; liver/biliary system phenotype

Gene ontology

• Biological process: lipid metabolic process;lipid transport;negative regulation of cell population proliferation;triglyceride catabolic process
• Cellular component: cytoplasm;cytosol;membrane
• Molecular function: lipid binding;bile acid binding