FAT1 Chromosome 4

FAT atypical cadherin 1
65 variants 65 Health Risk

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What This Gene Does
This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication. Transcript variants derived from alternative splicing and/or alternative promoter usage exist, but they have not been fully described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Cadherin related
Locus Type
gene with protein product
Location
4q35.2
Ensembl
ENSG00000083857
Associated Conditions (10)
Inborn genetic diseases
FAT1-related disorder
Familial pancreatic carcinoma
Irido-corneo-trabecular dysgenesis
Anophthalmia-microphthalmia syndrome
Finnish congenital nephrotic syndrome
Congenital myasthenic syndrome 12
Multiple myeloma
Nephrotic syndrome
Neoplasm
Key Variants
All Variants (65)
RSID Category Clinical Significance Conditions
RS1021583788 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1360260127 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141154871 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, FAT1-related disorder
RS142890707 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FAT1-related disorder, Inborn genetic diseases
RS143694311 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143802989 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149295542 Health Risk Conflicting classifications of pathogenicity
RS149417595 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS188188069 Health Risk Conflicting classifications of pathogenicity
RS188733415 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, FAT1-related disorder
RS192691397 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, FAT1-related disorder
RS192910004 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, FAT1-related disorder
RS199663111 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FAT1-related disorder, Inborn genetic diseases
RS200097846 Health Risk Conflicting classifications of pathogenicity
RS200192750 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, Inborn genetic diseases, FAT1-related disorder
RS200468967 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200662687 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, Familial pancreatic carcinoma, FAT1-related disorder
RS200717236 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, FAT1-related disorder
RS200828005 Health Risk Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis, Anophthalmia-microphthalmia syndrome, Irido-corneo-trabecular dysgenesis
RS200917026 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FAT1-related disorder, Inborn genetic diseases
RS201113097 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FAT1-related disorder, Inborn genetic diseases
RS201158459 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FAT1-related disorder, Inborn genetic diseases
RS201279606 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, FAT1-related disorder
RS201798649 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, FAT1-related disorder
RS201847759 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FAT1-related disorder, Inborn genetic diseases
RS201850668 Health Risk Conflicting classifications of pathogenicity
RS201854030 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202080269 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, FAT1-related disorder
RS373689624 Health Risk Conflicting classifications of pathogenicity
RS374843828 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375425015 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375994752 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376344008 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377150532 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS550890340 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS555992573 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, Inborn genetic diseases, FAT1-related disorder
RS56007012 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FAT1-related disorder, Inborn genetic diseases
RS560450489 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61747592 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, FAT1-related disorder
RS752874782 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757086321 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757277027 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775228629 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1579327590 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1579484850 Health Risk Likely pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS1579491104 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS1740022320 Health Risk Likely pathogenic
RS201488687 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2126488480 Health Risk Likely pathogenic FAT1-related disorder, Neoplasm, FAT1-related disorder
RS2126544181 Health Risk Likely pathogenic FAT1-related disorder, FAT1-related disorder
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