FRAS1 related extracellular matrix 1 (FREM1) Associated conditions: 1. Congenital diaphragmatic hernia
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001177704.3 | NP_001171175.1 | NC_000009.12 | (14737151..14910994, complement) | Reference GRCh38.p14 Primary Assembly | Q5H8C1 |
| 2 | REVIEWED | NM_001370058.2 | NP_001356987.1 | NC_000009.12 | (14737151..14910994, complement) | Reference GRCh38.p14 Primary Assembly | Q5H8C1 |
| 3 | REVIEWED | NM_001370060.1 | NP_001356989.1 | NC_000009.12 | (14737151..14910994, complement) | Reference GRCh38.p14 Primary Assembly | Q5H8C1 |
| 4 | REVIEWED | NM_001370061.2 | NP_001356990.1 | NC_000009.12 | (14737151..14910994, complement) | Reference GRCh38.p14 Primary Assembly | Q5H8C1 |
| 5 | REVIEWED | NM_001370063.1 | NP_001356992.1 | NC_000009.12 | (14737151..14910994, complement) | Reference GRCh38.p14 Primary Assembly | Q5H8C1 |
| 6 | REVIEWED | NM_001370065.1 | NP_001356994.1 | NC_000009.12 | (14737151..14910994, complement) | Reference GRCh38.p14 Primary Assembly | Q5H8C1 |
| 7 | REVIEWED | NM_001379081.2 | NP_001366010.1 | NC_000009.12 | (14737151..14910994, complement) | Reference GRCh38.p14 Primary Assembly | Q5H8C1 |
| 8 | REVIEWED | NM_144966.7 | NP_659403.4 | NC_000009.12 | (14737151..14910994, complement) | Reference GRCh38.p14 Primary Assembly | Q5H8C1 |
| 9 | REVIEWED | NR_163238.2 | - | NC_000009.12 | (14737151..14910994, complement) | Reference GRCh38.p14 Primary Assembly | Q5H8C1 |
| 10 | REVIEWED | NR_163239.2 | - | NC_000009.12 | (14737151..14910994, complement) | Reference GRCh38.p14 Primary Assembly | Q5H8C1 |
| 11 | REVIEWED | NR_163240.1 | - | NC_000009.12 | (14737151..14910994, complement) | Reference GRCh38.p14 Primary Assembly | Q5H8C1 |
| 12 | REVIEWED | NR_163241.1 | - | NC_000009.12 | (14737151..14910994, complement) | Reference GRCh38.p14 Primary Assembly | Q5H8C1 |
| 13 | REVIEWED | NR_163242.2 | - | NC_000009.12 | (14737151..14910994, complement) | Reference GRCh38.p14 Primary Assembly | Q5H8C1 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information FRAS1 related extracellular matrix 1 (FREM1) 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 | 29688405 |
| 2 | Homo sapiens | IEA | located_in | basement membrane | Component | - |
| 3 | Homo sapiens | IEA | involved_in | cell communication | Process | - |
| 4 | Homo sapiens | IEA | involved_in | cell adhesion | Process | - |
| 5 | Homo sapiens | IBA | involved_in | cell-matrix adhesion | Process | - |
| 6 | Homo sapiens | IBA | involved_in | epithelial structure maintenance | Process | - |
| 7 | Homo sapiens | IEA | located_in | membrane | Component | - |
| 8 | Homo sapiens | IEA | enables | carbohydrate binding | Function | - |
| 9 | Homo sapiens | IBA | is_active_in | extracellular matrix | Component | - |
| 10 | Homo sapiens | IEA | enables | metal ion binding | Function | - |
| 11 | Homo sapiens | IMP | involved_in | craniofacial suture morphogenesis | Process | 21931569 |