FABP4
fatty acid binding protein 4, the group of Fatty acid binding protein family
Basic information
Region (hg38): 8:81478419-81483236
Links
Phenotypes
GenCC
Source:
- schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FABP4 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 | |||||
| missense | 3 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 0 | |||||
| Total | 0 | 0 | 3 | 1 | 1 |
Variants in FABP4
This is a list of pathogenic ClinVar variants found in the FABP4 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 8-81478893-G-A | not specified | Uncertain significance (Dec 05, 2024) | ||
| 8-81478898-G-A | Benign (Dec 28, 2017) | |||
| 8-81478909-C-T | not specified | Likely benign (Nov 15, 2024) | ||
| 8-81479438-T-C | Likely benign (Jul 04, 2018) | |||
| 8-81479451-G-A | not specified | Uncertain significance (Mar 31, 2024) | ||
| 8-81479499-T-G | not specified | Uncertain significance (Oct 06, 2022) | ||
| 8-81480473-G-C | not specified | Uncertain significance (Dec 08, 2023) | ||
| 8-81480590-A-T | not specified | Uncertain significance (Dec 19, 2023) | ||
| 8-81480601-A-G | Benign (Jul 17, 2018) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FABP4 | protein_coding | protein_coding | ENST00000256104 | 4 | 4845 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000518 | 0.265 | 125620 | 0 | 62 | 125682 | 0.000247 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.571 | 58 | 71.6 | 0.810 | 0.00000346 | 876 |
| Missense in Polyphen | 11 | 17.186 | 0.64004 | 232 | ||
| Synonymous | -0.128 | 26 | 25.2 | 1.03 | 0.00000133 | 238 |
| Loss of Function | -0.338 | 6 | 5.17 | 1.16 | 2.17e-7 | 68 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000871 | 0.0000871 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000450 | 0.000449 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.000198 | 0.000196 |
| Other | 0.000329 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Lipid transport protein in adipocytes. Binds both long chain fatty acids and retinoic acid. Delivers long-chain fatty acids and retinoic acid to their cognate receptors in the nucleus. {ECO:0000250|UniProtKB:P04117}.;
- Pathway
- Regulation of lipolysis in adipocytes - Homo sapiens (human);PPAR signaling pathway - Homo sapiens (human);Transcriptional regulation of white adipocyte differentiation;PPAR signaling pathway;Developmental Biology;Metabolism of lipids;Metabolism;Transcriptional regulation of white adipocyte differentiation;Triglyceride catabolism;Triglyceride metabolism;AP-1 transcription factor network
(Consensus)
Recessive Scores
- pRec
- 0.480
Intolerance Scores
- loftool
- 0.650
- rvis_EVS
- 0.17
- rvis_percentile_EVS
- 65.33
Haploinsufficiency Scores
- pHI
- 0.365
- hipred
- N
- hipred_score
- 0.270
- ghis
- 0.448
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.950
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fabp4
- 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); liver/biliary system phenotype; homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype;
Gene ontology
- Biological process
- cytokine production;negative regulation of protein kinase activity;response to bacterium;long-chain fatty acid transport;triglyceride catabolic process;cholesterol homeostasis;negative regulation of transcription, DNA-templated;positive regulation of inflammatory response;white fat cell differentiation;brown fat cell differentiation;cellular response to lithium ion;cellular response to tumor necrosis factor;positive regulation of cold-induced thermogenesis
- Cellular component
- nucleus;cytoplasm;lipid droplet;cytosol;extracellular exosome
- Molecular function
- long-chain fatty acid transporter activity;fatty acid binding;long-chain fatty acid binding;hormone receptor binding