FABP7

fatty acid binding protein 7, the group of Fatty acid binding protein family

Basic information

Region (hg38): 6:122779715-122784074

Links

ENSG00000164434 ∙ NCBI:2173 ∙ OMIM:602965 ∙ HGNC:3562 ∙ Uniprot:O15540 ∙ 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 FABP7 gene.

• Inborn genetic diseases (4 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FABP7 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					2	2
missense			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	0	2

Variants in FABP7

This is a list of pathogenic ClinVar variants found in the FABP7 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-122779865-T-C		not specified	Uncertain significance (Aug 12, 2021)
6-122780333-C-G		not specified	Uncertain significance (Aug 15, 2023)
6-122780336-C-T		not specified	Uncertain significance (Dec 07, 2023)
6-122780422-G-A		not specified	Uncertain significance (Sep 25, 2023)
6-122780423-A-G		not specified	Uncertain significance (Nov 21, 2022)
6-122780453-GA-G			not provided (-)
6-122781099-G-A		not specified	Uncertain significance (Jun 29, 2022)
6-122781134-G-A			Benign (Dec 31, 2019)
6-122781200-T-C			Benign (Dec 31, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FABP7	protein_coding	protein_coding	ENST00000368444	4	4600

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000786	0.556	125724	0	15	125739	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.646	54	69.1	0.781	0.00000315	880
Missense in Polyphen		11	18.09	0.60809		242
Synonymous	1.21	16	23.5	0.682	0.00000111	232
Loss of Function	0.397	5	6.06	0.826	2.56e-7	75

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000148	0.000148
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000528	0.0000527
Middle Eastern	0.000109	0.000109
South Asian	0.0000327	0.0000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: B-FABP could be involved in the transport of a so far unknown hydrophobic ligand with potential morphogenic activity during CNS development. It is required for the establishment of the radial glial fiber system in developing brain, a system that is necessary for the migration of immature neurons to establish cortical layers (By similarity). {ECO:0000250}.
• Pathway: PPAR signaling pathway - Homo sapiens (human);PPAR signaling pathway;Metabolism of lipids;Metabolism;Triglyceride catabolism;Triglyceride metabolism (Consensus)

Recessive Scores

• pRec: 0.133

Intolerance Scores

• loftool: 0.749
• rvis_EVS: -0.1
• rvis_percentile_EVS: 46.2

Haploinsufficiency Scores

• pHI: 0.589
• hipred: N
• hipred_score: 0.397
• ghis: 0.552

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00434

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fabp7
• Phenotype: homeostasis/metabolism phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: nervous system development;negative regulation of cell population proliferation;triglyceride catabolic process;cell proliferation in forebrain;neurogenesis;epithelial cell proliferation;prepulse inhibition
• Cellular component: nucleus;cytosol;cell-cell junction;cell projection;neuronal cell body;cell periphery
• Molecular function: lipid binding