FABP5
fatty acid binding protein 5, the group of Fatty acid binding protein family
Basic information
Region (hg38): 8:81280536-81284777
Links
Phenotypes
GenCC
Source:
No genCC data.
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 FABP5 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 | 8 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 7 | 0 | 1 |
Variants in FABP5
This is a list of pathogenic ClinVar variants found in the FABP5 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 8-81280608-C-A | not specified | Uncertain significance (Dec 21, 2023) | ||
| 8-81280610-G-C | not specified | Uncertain significance (Jul 05, 2023) | ||
| 8-81280620-G-A | not specified | Uncertain significance (Dec 21, 2022) | ||
| 8-81283372-G-A | not specified | Uncertain significance (Aug 22, 2023) | ||
| 8-81283384-G-A | not specified | Uncertain significance (Jan 23, 2024) | ||
| 8-81283416-A-G | not specified | Uncertain significance (Jan 23, 2024) | ||
| 8-81283899-A-G | not provided (-) | |||
| 8-81283909-C-T | Benign (Dec 31, 2019) | |||
| 8-81283951-T-C | not provided (-) | |||
| 8-81284530-A-G | not provided (-) | |||
| 8-81284551-A-G | not specified | Uncertain significance (Dec 26, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FABP5 | protein_coding | protein_coding | ENST00000297258 | 4 | 4415 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0470 | 0.864 | 125716 | 0 | 14 | 125730 | 0.0000557 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.138 | 69 | 65.9 | 1.05 | 0.00000300 | 880 |
| Missense in Polyphen | 16 | 16.096 | 0.99403 | 247 | ||
| Synonymous | 1.07 | 16 | 22.4 | 0.713 | 0.00000105 | 239 |
| Loss of Function | 1.40 | 3 | 7.00 | 0.429 | 3.68e-7 | 88 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000933 | 0.0000905 |
| Ashkenazi Jewish | 0.000399 | 0.000397 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000465 | 0.0000462 |
| European (Non-Finnish) | 0.0000540 | 0.0000528 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000373 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Intracellular carrier for long-chain fatty acids and related active lipids, such as the endocannabinoid, that regulates the metabolism and actions of the ligands they bind. In addition to the cytosolic transport, selectively delivers specific fatty acids from the cytosol to the nucleus, wherein they activate nuclear receptors (PubMed:22170058). Delivers retinoic acid to the nuclear receptor peroxisome proliferator-activated receptor delta; which promotes proliferation and survival. May also serve as a synaptic carrier of endocannabinoid at central synapses and thus controls retrograde endocannabinoid signaling. Modulates inflammation by regulating PTGES induction via NF-kappa-B activation, and prostaglandin E2 (PGE2) biosynthesis during inflammation (By similarity). May be involved in keratinocyte differentiation (PubMed:8092987). {ECO:0000250|UniProtKB:Q05816, ECO:0000269|PubMed:22170058, ECO:0000269|PubMed:8092987}.;
- Pathway
- PPAR signaling pathway - Homo sapiens (human);PPAR signaling pathway;Neutrophil degranulation;Signal Transduction;Metabolism of lipids;Innate Immune System;Immune System;Metabolism;Triglyceride catabolism;Triglyceride metabolism;Signaling by Retinoic Acid;Signaling by Nuclear Receptors
(Consensus)
Recessive Scores
- pRec
- 0.132
Intolerance Scores
- loftool
- 0.795
- rvis_EVS
- 0.24
- rvis_percentile_EVS
- 68.72
Haploinsufficiency Scores
- pHI
- hipred
- N
- hipred_score
- 0.177
- ghis
- 0.452
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.801
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fabp5
- Phenotype
- liver/biliary system phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region 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); muscle phenotype; cellular phenotype; homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan);
Gene ontology
- Biological process
- glucose metabolic process;lipid metabolic process;phosphatidylcholine biosynthetic process;epidermis development;negative regulation of glucose transmembrane transport;triglyceride catabolic process;regulation of prostaglandin biosynthetic process;positive regulation of peroxisome proliferator activated receptor signaling pathway;glucose homeostasis;neutrophil degranulation;regulation of sensory perception of pain;regulation of retrograde trans-synaptic signaling by endocanabinoid;positive regulation of cold-induced thermogenesis
- Cellular component
- extracellular region;nucleus;nucleoplasm;cytoplasm;cytosol;plasma membrane;postsynaptic density;cell junction;secretory granule membrane;azurophil granule lumen;synapse;postsynaptic membrane;extracellular exosome
- Molecular function
- retinoic acid binding;fatty acid binding;protein binding;lipid binding;identical protein binding