B9 domain containing 1 (B9D1) Associated conditions: 1. Joubert syndrome 2. Jeune thoracic dystrophy
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001321214.2 | NP_001308143.1 | NC_000017.11 | (19334694..19377912, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001321215.3 | NP_001308144.1 | NC_000017.11 | (19334694..19377912, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NM_001321216.2 | NP_001308145.1 | NC_000017.11 | (19334694..19377912, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NM_001321217.2 | NP_001308146.1 | NC_000017.11 | (19334694..19377912, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NM_001321218.2 | NP_001308147.1 | NC_000017.11 | (19334694..19377912, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 6 | REVIEWED | NM_001321219.2 | NP_001308148.1 | NC_000017.11 | (19334694..19377912, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 7 | REVIEWED | NM_001330149.2 | NP_001317078.1 | NC_000017.11 | (19334694..19377912, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 8 | REVIEWED | NM_001368769.2 | NP_001355698.1 | NC_000017.11 | (19334694..19377912, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 9 | REVIEWED | NM_015681.6 | NP_056496.1 | NC_000017.11 | (19334694..19377912, 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 B9 domain containing 1 (B9D1) 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 27173435 28514442 32726168 33961781 40205054 |
| 2 | Homo sapiens | IDA | located_in | centrosome | Component | 19208769 |
| 3 | Homo sapiens | TAS | located_in | cytosol | Component | - |
| 4 | Homo sapiens | IEA | located_in | cilium | Component | - |
| 5 | Homo sapiens | IEA | located_in | axoneme | Component | - |
| 6 | Homo sapiens | IEA | involved_in | smoothened signaling pathway | Process | - |
| 7 | Homo sapiens | ISS | involved_in | smoothened signaling pathway | Process | - |
| 8 | Homo sapiens | IEA | enables | hedgehog receptor activity | Function | - |
| 9 | Homo sapiens | ISS | enables | hedgehog receptor activity | Function | - |
| 10 | Homo sapiens | IEA | located_in | membrane | Component | - |
| 11 | Homo sapiens | IEA | involved_in | cell projection organization | Process | - |
| 12 | Homo sapiens | IEA | located_in | ciliary transition zone | Component | - |
| 13 | Homo sapiens | ISS | located_in | ciliary transition zone | Component | - |
| 14 | Homo sapiens | NAS | located_in | ciliary transition zone | Component | 22179047 |
| 15 | Homo sapiens | IBA | part_of | MKS complex | Component | - |
| 16 | Homo sapiens | IEA | part_of | MKS complex | Component | - |
| 17 | Homo sapiens | ISS | part_of | MKS complex | Component | - |
| 18 | Homo sapiens | IDA | located_in | ciliary basal body | Component | 19208769 |
| 19 | Homo sapiens | IBA | involved_in | cilium assembly | Process | - |
| 20 | Homo sapiens | IEA | involved_in | cilium assembly | Process | - |
| 21 | Homo sapiens | ISS | involved_in | cilium assembly | Process | - |
| 22 | Homo sapiens | NAS | involved_in | protein localization to ciliary transition zone | Process | 22179047 |