Centrosomal protein 120 (CEP120) Associated conditions: 1. Joubert syndrome
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001166226.2 | NP_001159698.1 | NC_000005.10 | (123344891..123423841, complement) | Reference GRCh38.p14 Primary Assembly | Q8N960 |
| 2 | REVIEWED | NM_001375405.1 | NP_001362334.1 | NC_000005.10 | (123344891..123423841, complement) | Reference GRCh38.p14 Primary Assembly | Q8N960 |
| 3 | REVIEWED | NM_001375406.1 | NP_001362335.1 | NC_000005.10 | (123344891..123423841, complement) | Reference GRCh38.p14 Primary Assembly | Q8N960 |
| 4 | REVIEWED | NM_001375407.1 | NP_001362336.1 | NC_000005.10 | (123344891..123423841, complement) | Reference GRCh38.p14 Primary Assembly | Q8N960 |
| 5 | REVIEWED | NM_001375408.1 | NP_001362337.1 | NC_000005.10 | (123344891..123423841, complement) | Reference GRCh38.p14 Primary Assembly | Q8N960 |
| 6 | REVIEWED | NM_001375409.1 | NP_001362338.1 | NC_000005.10 | (123344891..123423841, complement) | Reference GRCh38.p14 Primary Assembly | Q8N960 |
| 7 | REVIEWED | NM_153223.4 | NP_694955.2 | NC_000005.10 | (123344891..123423841, complement) | Reference GRCh38.p14 Primary Assembly | Q8N960 |
| 8 | REVIEWED | NR_164685.1 | - | NC_000005.10 | (123344891..123423841, complement) | Reference GRCh38.p14 Primary Assembly | Q8N960 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Centrosomal protein 120 (CEP120) 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 | IPI | enables | protein binding | Function | 26638075 |
| 2 | Homo sapiens | IBA | is_active_in | centrosome | Component | - |
| 3 | Homo sapiens | IDA | located_in | centrosome | Component | 21399614 36590171 |
| 4 | Homo sapiens | IEA | located_in | centrosome | Component | - |
| 5 | Homo sapiens | IDA | located_in | centriole | Component | - |
| 6 | Homo sapiens | IEA | located_in | centriole | Component | - |
| 7 | Homo sapiens | ISS | located_in | centriole | Component | - |
| 8 | Homo sapiens | IEA | involved_in | centrosome cycle | Process | - |
| 9 | Homo sapiens | ISS | involved_in | centrosome cycle | Process | - |
| 10 | Homo sapiens | IEA | involved_in | regulation of centrosome duplication | Process | - |
| 11 | Homo sapiens | IEA | involved_in | positive regulation of centrosome duplication | Process | - |
| 12 | Homo sapiens | ISS | involved_in | positive regulation of centrosome duplication | Process | - |
| 13 | Homo sapiens | IBA | involved_in | interkinetic nuclear migration | Process | - |
| 14 | Homo sapiens | IEA | involved_in | regulation of protein localization | Process | - |
| 15 | Homo sapiens | IEA | involved_in | positive regulation of cilium assembly | Process | - |
| 16 | Homo sapiens | ISS | involved_in | positive regulation of cilium assembly | Process | - |
| 17 | Homo sapiens | IEA | involved_in | positive regulation of cell cycle process | Process | - |
| 18 | Homo sapiens | IEA | involved_in | positive regulation of organelle assembly | Process | - |
| 19 | Homo sapiens | IBA | involved_in | positive regulation of centriole elongation | Process | - |
| 20 | Homo sapiens | IMP | involved_in | positive regulation of centriole elongation | Process | 27185865 |
| 21 | Homo sapiens | IMP | involved_in | positive regulation of establishment of protein localization | Process | 27185865 |