FAT atypical cadherin 1 (FAT1) Associated conditions: 1. Irido-corneo-trabecular dysgenesis 2. Multiple myeloma 3. Finnish congenital nephrotic syndrome
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001440455.1 | NP_001427384.1 | NC_000004.12 | (186587793..186726695, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001440456.1 | NP_001427385.1 | NC_000004.12 | (186587793..186726695, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NM_001440457.1 | NP_001427386.1 | NC_000004.12 | (186587793..186726695, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NM_005245.4 | NP_005236.2 | NC_000004.12 | (186587793..186726695, complement) | Reference GRCh38.p14 Primary Assembly | - |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information FAT atypical cadherin 1 (FAT1) Mutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IEA | enables | calcium ion binding | Function | - |
| 2 | Homo sapiens | IPI | enables | protein binding | Function | 16979624 19131340 36115835 |
| 3 | Homo sapiens | IDA | located_in | nucleus | Component | 15922730 |
| 4 | Homo sapiens | IEA | located_in | nucleus | Component | - |
| 5 | Homo sapiens | IBA | is_active_in | plasma membrane | Component | - |
| 6 | Homo sapiens | IDA | located_in | plasma membrane | Component | 15922730 |
| 7 | Homo sapiens | IEA | located_in | plasma membrane | Component | - |
| 8 | Homo sapiens | TAS | located_in | plasma membrane | Component | 8586420 |
| 9 | Homo sapiens | IDA | located_in | cell-cell junction | Component | 15148305 |
| 10 | Homo sapiens | IEA | located_in | cell-cell junction | Component | - |
| 11 | Homo sapiens | IBA | is_active_in | adherens junction | Component | - |
| 12 | Homo sapiens | HDA | located_in | focal adhesion | Component | 21423176 |
| 13 | Homo sapiens | IEA | involved_in | cell adhesion | Process | - |
| 14 | Homo sapiens | TAS | involved_in | cell adhesion | Process | 8586420 |
| 15 | Homo sapiens | IEA | involved_in | homophilic cell-cell adhesion | Process | - |
| 16 | Homo sapiens | TAS | involved_in | cell-cell signaling | Process | 8586420 |
| 17 | Homo sapiens | IEA | involved_in | anatomical structure morphogenesis | Process | - |
| 18 | Homo sapiens | TAS | involved_in | anatomical structure morphogenesis | Process | 8586420 |
| 19 | Homo sapiens | IEA | located_in | membrane | Component | - |
| 20 | Homo sapiens | ISS | involved_in | cell migration | Process | - |
| 21 | Homo sapiens | IBA | involved_in | cell-cell adhesion mediated by cadherin | Process | - |
| 22 | Homo sapiens | IDA | located_in | perinuclear region of cytoplasm | Component | 15922730 |
| 23 | Homo sapiens | HDA | located_in | extracellular exosome | Component | 19056867 |