FABP1

fatty acid binding protein 1, the group of Fatty acid binding protein family

Basic information

Region (hg38): 2:88122981-88128062

Links

ENSG00000163586 ∙ NCBI:2168 ∙ OMIM:134650 ∙ HGNC:3555 ∙ Uniprot:P07148 ∙ 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 FABP1 gene.

• Inborn genetic diseases (9 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FABP1 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			8	1		9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	2	0

Variants in FABP1

This is a list of pathogenic ClinVar variants found in the FABP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-88123064-T-C		not specified	Uncertain significance (Dec 27, 2022)
2-88123088-T-G		not specified	Uncertain significance (Dec 12, 2023)
2-88123091-C-T		not specified	Uncertain significance (Dec 03, 2021)
2-88124529-A-T		not specified	Uncertain significance (Mar 05, 2024)
2-88124565-C-T		not specified	Likely benign (May 24, 2023)
2-88126192-G-A		not specified	Uncertain significance (Dec 03, 2021)
2-88126250-A-T		not specified	Uncertain significance (Jun 17, 2022)
2-88126312-A-G		not specified	Uncertain significance (Jan 24, 2023)
2-88126322-C-T		not specified	Uncertain significance (Dec 03, 2021)
2-88127961-C-T		not specified	Uncertain significance (Nov 17, 2022)
2-88127999-A-C		not specified	Uncertain significance (Jul 25, 2023)
2-88128006-G-A			Likely benign (Jun 21, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FABP1	protein_coding	protein_coding	ENST00000295834	4	5126

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.80e-7	0.103	125732	0	15	125747	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.655	56	71.6	0.782	0.00000388	851
Missense in Polyphen		12	15.846	0.75727		180
Synonymous	0.304	29	31.2	0.931	0.00000223	220
Loss of Function	-0.797	8	5.91	1.35	2.50e-7	74

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000121	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000528	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.000167	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in lipoprotein-mediated cholesterol uptake in hepatocytes (PubMed:25732850). Binds cholesterol (PubMed:25732850). Binds free fatty acids and their coenzyme A derivatives, bilirubin, and some other small molecules in the cytoplasm. May be involved in intracellular lipid transport (By similarity). {ECO:0000250|UniProtKB:P82289, ECO:0000269|PubMed:25732850}.
• Pathway: Fat digestion and absorption - Homo sapiens (human);PPAR signaling pathway - Homo sapiens (human);Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);Selenium Metabolism and Selenoproteins;PPAR Alpha Pathway;Nuclear Receptors Meta-Pathway;PPAR signaling pathway;Steatosis AOP;mechanism of gene regulation by peroxisome proliferators via ppara;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);Metabolism of lipids;Metabolism;Triglyceride catabolism;Triglyceride metabolism (Consensus)

Intolerance Scores

• loftool: 0.628
• rvis_EVS: 0.13
• rvis_percentile_EVS: 62.74

Haploinsufficiency Scores

• pHI: 0.917
• hipred: N
• hipred_score: 0.394
• ghis: 0.471

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.984

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fabp1
• Phenotype: liver/biliary system phenotype; hearing/vestibular/ear phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: long-chain fatty acid transport;regulation of lipid metabolic process;triglyceride catabolic process;positive regulation of fatty acid beta-oxidation;negative regulation of apoptotic process;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;intestinal absorption;positive regulation of hydrolase activity;cellular response to hydrogen peroxide;cellular response to hypoxia;cellular oxidant detoxification
• Cellular component: nucleoplasm;peroxisomal matrix;cytosol;protein-containing complex;apical cortex;extracellular exosome
• Molecular function: chromatin binding;long-chain fatty acid transporter activity;fatty acid binding;protein binding;phospholipid binding;drug binding;antioxidant activity;bile acid binding