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| # | Reference Title | Reference Citation |
| 1. | Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. | Bisschoff IJ, etal., Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17. |
| 2. | A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. | Budny B, etal., Hum Genet. 2006 Sep;120(2):171-8. Epub 2006 Jun 17. |
| 3. | OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. | Coene KL, etal., Am J Hum Genet. 2009 Oct;85(4):465-81. doi: 10.1016/j.ajhg.2009.09.002. |
| 4. | A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1. | Diz P, etal., Oral Dis. 2011 Sep;17(6):610-4. doi: 10.1111/j.1601-0825.2011.01823.x. Epub 2011 Jul 6. |
| 5. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 6. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 7. | Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1. | Rakkolainen A, etal., J Med Genet. 2002 Apr;39(4):292-6. |
| 8. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 9. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 10. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 11. | Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I. | Romero M, etal., Cleft Palate Craniofac J. 2007 Nov;44(6):660-6. doi: 10.1597/06-225.1. |
| 12. | Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. | Thauvin-Robinet C, etal., J Med Genet. 2006 Jan;43(1):54-61. |
| 13. | OFD1, as a Ciliary Protein, Exhibits Neuroprotective Function in Photoreceptor Degeneration Models. | Wang J, etal., PLoS One. 2016 May 19;11(5):e0155860. doi: 10.1371/journal.pone.0155860. eCollection 2016. |
| 14. | Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). | Webb TR, etal., Hum Mol Genet. 2012 Aug 15;21(16):3647-54. doi: 10.1093/hmg/dds194. Epub 2012 May 22. |
| PMID:16311594 | PMID:17761535 | PMID:19946888 | PMID:20230748 | PMID:21399614 | PMID:23806618 | PMID:24089205 | PMID:24469809 | PMID:29487109 |
| Ofd1 (Rattus norvegicus - Norway rat) |
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| OFD1 (Homo sapiens - human) |
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| Ofd1 (Mus musculus - house mouse) |
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| Ofd1 (Chinchilla lanigera - long-tailed chinchilla) |
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| OFD1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| OFD1 (Canis lupus familiaris - dog) |
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| Ofd1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| OFD1 (Sus scrofa - pig) |
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| OFD1 (Chlorocebus sabaeus - green monkey) |
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| Ofd1 (Heterocephalus glaber - naked mole-rat) |
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| Ofd1 (Rattus rattus - black rat) |
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.
Variants in Ofd1
186 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 164 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 143 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001106961 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_008773164 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063279934 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_010061184 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC130009 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| CH474014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| FQ210045 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000006074 ⟹ ENSRNOP00000006074 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000120152 ⟹ ENSRNOP00000088636 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000144468 ⟹ ENSRNOP00000099775 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000165290 ⟹ ENSRNOP00000102767 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_001106961 ⟹ NP_001100431 | ||||||||||||||||||||||||||||
| RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_008773164 ⟹ XP_008771386 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_063279934 ⟹ XP_063136004 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XR_010061184 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
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| Protein RefSeqs | NP_001100431 | (Get FASTA) | NCBI Sequence Viewer |
| XP_008771386 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063136004 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | EDL90547 | (Get FASTA) | NCBI Sequence Viewer |
| Ensembl Protein | ENSRNOP00000006074 | ||
| ENSRNOP00000006074.6 | |||
| ENSRNOP00000088636.1 | |||
| ENSRNOP00000099775.1 | |||
| ENSRNOP00000102767 | |||
| ENSRNOP00000102767.1 |
| RefSeq Acc Id: | NP_001100431 ⟸ NM_001106961 |
| - UniProtKB: | D3ZUD5 (UniProtKB/TrEMBL), A6K2I3 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_008771386 ⟸ XM_008773164 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | D3ZUD5 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000006074 ⟸ ENSRNOT00000006074 |
| Ensembl Acc Id: | ENSRNOP00000088636 ⟸ ENSRNOT00000120152 |
| RefSeq Acc Id: | XP_063136004 ⟸ XM_063279934 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | D3ZUD5 (UniProtKB/TrEMBL) |
| Ensembl Acc Id: | ENSRNOP00000099775 ⟸ ENSRNOT00000144468 |
| Ensembl Acc Id: | ENSRNOP00000102767 ⟸ ENSRNOT00000165290 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-D3ZUD5-F1-model_v2 | AlphaFold | D3ZUD5 | 1-1025 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13701789 | ||||||||
| Promoter ID: | EPDNEW_R12313 | ||||||||
| Type: | initiation region | ||||||||
| Name: | Ofd1_1 | ||||||||
| Description: | OFD1, centriole and centriolar satellite protein | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
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| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1562231 | AgrOrtholog |
| BioCyc Gene | G2FUF-2608 | BioCyc |
| Ensembl Genes | ENSRNOG00000004574 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000006074 | ENTREZGENE |
| ENSRNOT00000006074.8 | UniProtKB/TrEMBL | |
| ENSRNOT00000120152.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000144468.1 | UniProtKB/TrEMBL | |
| ENSRNOT00000165290 | ENTREZGENE | |
| ENSRNOT00000165290.1 | UniProtKB/TrEMBL | |
| InterPro | LisH_dimerisation | UniProtKB/TrEMBL |
| OFD1 | UniProtKB/TrEMBL | |
| KEGG Report | rno:302661 | UniProtKB/TrEMBL |
| NCBI Gene | 302661 | ENTREZGENE |
| PANTHER | LISH DOMAIN-CONTAINING PROTEIN | UniProtKB/TrEMBL |
| ORAL-FACIAL-DIGITAL SYNDROME 1 PROTEIN HOMOLOG | UniProtKB/TrEMBL | |
| Pfam | LisH_2 | UniProtKB/TrEMBL |
| PhenoGen | Ofd1 | PhenoGen |
| PROSITE | LISH | UniProtKB/TrEMBL |
| RatGTEx | ENSRNOG00000004574 | RatGTEx |
| SMART | LisH | UniProtKB/TrEMBL |
| UniProt | A0A8I6AA62_RAT | UniProtKB/TrEMBL |
| A0ABK0L9V6_RAT | UniProtKB/TrEMBL | |
| A0ABK0LM65_RAT | UniProtKB/TrEMBL | |
| A6K2I3 | ENTREZGENE, UniProtKB/TrEMBL | |
| D3ZUD5 | ENTREZGENE, UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2022-04-29 | Ofd1 | Ofd1 centriole and centriolar satellite protein | Ofd1 | OFD1, centriole and centriolar satellite protein | Name changed | 629549 | APPROVED |
| 2016-06-02 | Ofd1 | OFD1, centriole and centriolar satellite protein | Ofd1 | oral-facial-digital syndrome 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2013-01-22 | Ofd1 | oral-facial-digital syndrome 1 | Ofd1 | oral-facial-digital syndrome 1 gene homolog (human) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2008-02-29 | Ofd1 | oral-facial-digital syndrome 1 gene homolog (human) | RGD1562231_predicted | similar to Ofd1 protein (predicted) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2006-03-07 | RGD1562231_predicted | similar to Ofd1 protein (predicted) | LOC302661 | similar to Ofd1 protein | Symbol and Name status set to approved | 1299863 | APPROVED |
| 2006-02-09 | LOC302661 | similar to Ofd1 protein | Symbol and Name status set to provisional | 70820 | PROVISIONAL |