Details for: OFD1
Gene ID: 8481
Gene Type: Protein-coding - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.
Symbol: OFD1
Ensembl ID: ENSG00000046651
Description: OFD1 centriole and centriolar satellite protein
Cell Significance Landscape
Associated with
Significant Cells
Cell Significance Index (CSI) scores for the chosen context(s)
-
CSI 44.89rCSI 31.34%PRS 29.85
-
CSI 21.39rCSI 26.84%PRS 36.17
-
CSI 17.84rCSI 31.61%PRS 20.33
-
CSI 15.09rCSI 11.93%PRS 19.65
-
CSI 13.24rCSI 13.41%PRS 77.89
-
CSI 10.27rCSI 12.33%PRS 27.36
-
CSI 10rCSI 9.98%PRS 24.21
-
CSI 9.67rCSI 32.71%PRS 40.81
-
CSI 9.34rCSI 7.07%PRS 37.95
-
CSI 7.99rCSI 21.09%PRS 33.6
-
CSI 7.09rCSI 10.84%PRS 43.66
-
CSI 6.56rCSI 7.93%PRS 33.85
-
CSI 6.46rCSI 32.41%PRS 36.87
-
CSI 6.31rCSI 9.65%PRS 32.11
-
CSI 6.29rCSI 6.17%PRS 42
-
CSI 5.68rCSI 6.39%PRS 43.1
-
CSI 5.61rCSI 8.9%PRS 36.21
-
CSI 5.6rCSI 7.78%PRS 28.47
-
CSI 5.29rCSI 3.96%PRS 42.19
-
CSI 5.2rCSI 32.45%PRS 22.8
-
CSI 5.04rCSI 3.84%PRS 36.96
-
CSI 4.81rCSI 7.39%PRS 33.54
-
CSI 4.69rCSI 13.39%PRS 43.52
-
CSI 4.67rCSI 5.78%PRS 25
-
CSI 4.58rCSI 5.88%PRS 27.02
-
CSI 4.15rCSI 5.17%PRS 16.41
-
CSI 4.06rCSI 3.9%PRS 29.16
-
CSI 4.03rCSI 19.28%PRS 25.17
-
CSI 3.97rCSI 4.04%PRS 39.3
-
CSI 3.57rCSI 8.6%PRS 43.09
-
CSI 3.42rCSI 7.55%PRS 20.38
-
CSI 3.35rCSI 3.49%PRS 28.97
-
CSI 3.3rCSI 3.18%PRS 21.23
-
CSI 3.22rCSI 6.03%PRS 20.97
-
CSI 3.15rCSI 2.44%PRS 27.69
-
CSI 2.99rCSI 9.8%PRS 62.58
-
CSI 2.93rCSI 3.06%PRS 63.62
-
CSI 2.85rCSI 2.5%PRS 36.5
-
CSI 2.81rCSI 2.41%PRS 40.19
-
CSI 2.8rCSI 2.1%PRS 64.6
-
CSI 2.79rCSI 2%PRS 38.24
-
CSI 2.65rCSI 2.14%PRS 40.04
-
CSI 2.61rCSI 3.06%PRS 39.57
-
CSI 2.51rCSI 4%PRS 24.2
-
CSI 2.5rCSI 60.35%PRS 17.29
-
CSI 2.49rCSI 1.73%PRS 38.93
-
CSI 2.46rCSI 3.5%PRS 31.07
-
CSI 2.45rCSI 58.68%PRS 16.5
-
CSI 2.45rCSI 3.35%PRS 31.83
-
CSI 2.44rCSI 2.4%PRS 61.44
-
CSI 2.38rCSI 6.68%PRS 33.34
-
CSI 2.34rCSI 7.49%PRS 24.74
-
CSI 2.33rCSI 3.17%PRS 15.94
-
CSI 2.3rCSI 1.81%PRS 33.7
-
CSI 2.26rCSI 3.09%PRS 40.08
-
CSI 2.18rCSI 12.57%PRS 33.22
-
CSI 2.17rCSI 1.89%PRS 35.14
-
CSI 2.14rCSI 1.77%PRS 28.7
-
CSI 2.13rCSI 2.05%PRS 51.9
-
CSI 2.1rCSI 1.48%PRS 55.77
-
CSI 2.1rCSI 4.22%PRS 21.14
-
CSI 2.09rCSI 1.67%PRS 47.69
-
CSI 2.07rCSI 5.02%PRS 17.05
-
CSI 2.02rCSI 4.46%PRS 26.12
-
CSI 2.01rCSI 1.62%PRS 28.42
-
CSI 1.99rCSI 1.96%PRS 70.81
-
CSI 1.98rCSI 1.17%PRS 39.35
-
CSI 1.98rCSI 5.86%PRS 37.99
-
CSI 1.98rCSI 1.94%PRS 30.25
-
CSI 1.96rCSI 2.62%PRS 49.49
-
CSI 1.95rCSI 2.99%PRS 34.96
-
CSI 1.94rCSI 2.03%PRS 26.38
-
CSI 1.92rCSI 3.13%PRS 16.4
-
CSI 1.91rCSI 2.92%PRS 46.08
-
CSI 1.91rCSI 1.49%PRS 41.04
-
CSI 1.91rCSI 4.92%PRS 33.9
-
CSI 1.9rCSI 4.52%PRS 40.12
-
CSI 1.9rCSI 1.32%PRS 34.09
-
CSI 1.85rCSI 2.53%PRS 31.01
-
CSI 1.81rCSI 2.49%PRS 49.02
-
CSI 1.8rCSI 1.58%PRS 32.2
-
CSI 1.79rCSI 2.53%PRS 26.3
-
CSI 1.78rCSI 2.21%PRS 30.23
-
CSI 1.77rCSI 1.44%PRS 29.34
-
CSI 1.74rCSI 1.64%PRS 29.49
-
CSI 1.72rCSI 1.58%PRS 29.31
-
CSI 1.71rCSI 1.76%PRS 43.43
-
CSI 1.71rCSI 1.43%PRS 32.91
-
CSI 1.69rCSI 6.33%PRS 23.86
-
CSI 1.65rCSI 2.83%PRS 53.28
-
CSI 1.65rCSI 1.54%PRS 28.28
-
CSI 1.63rCSI 2.35%PRS 42.12
-
CSI 1.62rCSI 1.08%PRS 57.26
-
CSI 1.61rCSI 2.71%PRS 17.47
-
CSI 1.61rCSI 1.49%PRS 47.63
-
CSI 1.57rCSI 4.64%PRS 32.83
-
CSI 1.56rCSI 2.32%PRS 31.78
-
CSI 1.56rCSI 3.74%PRS 45.95
-
CSI 1.53rCSI 1.94%PRS 32.39
-
CSI 1.53rCSI 4.89%PRS 37.49
-
CSI 0.1rCSI 1.5%PRS 72.6%
-
CSI 0.1rCSI 0.7%PRS 40.1%
-
CSI 0.1rCSI 1.1%PRS 17.5%
-
CSI 0.2rCSI 2.4%PRS 72.9%
-
CSI 0.2rCSI 1.3%PRS 18.4%
-
CSI 0.2rCSI 2.5%PRS 49.5%
-
CSI 0.2rCSI 1.3%PRS 39.4%
-
CSI 0.3rCSI 0.7%PRS 46.0%
-
CSI 0.3rCSI 1.5%PRS 50.9%
-
CSI 0.3rCSI 4.0%PRS 65.4%
-
CSI 0.3rCSI 4.6%PRS 23.3%
-
CSI 0.3rCSI 2.5%PRS 48.0%
-
CSI 0.4rCSI 0.6%PRS 42.2%
-
CSI 0.4rCSI 0.6%PRS 28.6%
-
CSI 0.4rCSI 1.4%PRS 16.6%
-
CSI 0.4rCSI 1.5%PRS 18.2%
-
CSI 0.4rCSI 0.4%PRS 31.4%
-
CSI 0.4rCSI 1.7%PRS 52.2%
-
CSI 0.4rCSI 1.2%PRS 23.7%
-
CSI 0.5rCSI 1.2%PRS 27.4%
-
CSI 0.5rCSI 0.6%PRS 46.1%
-
CSI 0.5rCSI 1.5%PRS 18.3%
-
CSI 0.5rCSI 1.4%PRS 43.9%
-
CSI 0.5rCSI 2.2%PRS 25.2%
-
CSI 0.5rCSI 1.5%PRS 31.3%
-
CSI 0.5rCSI 1.0%PRS 29.2%
-
CSI 0.6rCSI 0.4%PRS 47.8%
-
CSI 0.6rCSI 3.2%PRS 65.9%
-
CSI 0.6rCSI 0.9%PRS 26.6%
-
CSI 0.6rCSI 1.8%PRS 54.3%
-
CSI 0.6rCSI 1.1%PRS 35.8%
-
CSI 0.6rCSI 2.0%PRS 19.9%
-
CSI 0.6rCSI 2.4%PRS 25.9%
-
CSI 0.6rCSI 1.7%PRS 26.5%
-
CSI 0.6rCSI 1.8%PRS 47.1%
-
CSI 0.7rCSI 2.9%PRS 44.9%
-
CSI 0.7rCSI 0.7%PRS 33.2%
-
CSI 0.7rCSI 0.6%PRS 25.8%
-
CSI 0.7rCSI 1.4%PRS 42.5%
-
CSI 0.7rCSI 1.6%PRS 28.4%
-
CSI 0.7rCSI 1.2%PRS 17.0%
-
CSI 0.7rCSI 1.1%PRS 26.1%
-
CSI 0.7rCSI 2.8%PRS 45.2%
-
CSI 0.7rCSI 1.0%PRS 36.8%
-
CSI 0.7rCSI 1.9%PRS 28.5%
-
CSI 0.7rCSI 3.2%PRS 46.6%
-
CSI 0.8rCSI 2.0%PRS 34.5%
-
CSI 0.8rCSI 4.7%PRS 67.8%
-
CSI 0.8rCSI 2.1%PRS 36.2%
-
CSI 0.8rCSI 2.8%PRS 68.8%
-
CSI 0.8rCSI 1.5%PRS 45.1%
-
CSI 0.8rCSI 1.5%PRS 57.7%
-
CSI 0.8rCSI 0.8%PRS 29.0%
-
CSI 0.8rCSI 1.9%PRS 40.1%
-
CSI 0.8rCSI 2.0%PRS 62.0%
-
CSI 0.8rCSI 1.7%PRS 41.4%
-
CSI 0.8rCSI 1.0%PRS 18.1%
-
CSI 0.8rCSI 0.7%PRS 27.0%
-
CSI 0.8rCSI 1.0%PRS 31.5%
-
CSI 0.8rCSI 1.8%PRS 31.9%
-
CSI 0.8rCSI 2.1%PRS 61.3%
-
CSI 0.8rCSI 1.1%PRS 31.2%
-
CSI 0.8rCSI 2.0%PRS 33.9%
-
CSI 0.8rCSI 1.7%PRS 29.2%
-
CSI 0.8rCSI 1.4%PRS 22.0%
-
CSI 0.9rCSI 1.3%PRS 28.5%
-
CSI 0.9rCSI 1.1%PRS 17.3%
-
CSI 0.9rCSI 1.6%PRS 57.8%
-
CSI 0.9rCSI 1.4%PRS 21.8%
-
CSI 0.9rCSI 2.6%PRS 41.7%
-
CSI 0.9rCSI 2.5%PRS 42.3%
-
CSI 0.9rCSI 1.3%PRS 32.1%
-
CSI 0.9rCSI 1.2%PRS 30.4%
-
CSI 0.9rCSI 1.7%PRS 24.4%
-
CSI 0.9rCSI 2.1%PRS 18.1%
-
CSI 0.9rCSI 1.3%PRS 22.3%
-
CSI 0.9rCSI 1.7%PRS 23.7%
-
CSI 1.0rCSI 3.3%PRS 45.0%
-
CSI 1.0rCSI 2.3%PRS 26.9%
-
CSI 1.0rCSI 2.8%PRS 50.9%
-
CSI 1.0rCSI 2.4%PRS 26.5%
-
CSI 1.0rCSI 2.5%PRS 39.6%
-
CSI 1.0rCSI 1.4%PRS 37.7%
-
CSI 1.0rCSI 1.6%PRS 19.0%
-
CSI 1.0rCSI 1.5%PRS 42.8%
-
CSI 1.0rCSI 2.4%PRS 31.3%
-
CSI 1.0rCSI 1.6%PRS 31.0%
-
CSI 1.0rCSI 3.3%PRS 32.7%
-
CSI 1.0rCSI 1.9%PRS 64.3%
-
CSI 1.0rCSI 1.2%PRS 39.1%
-
CSI 1.0rCSI 1.2%PRS 46.4%
-
CSI 1.0rCSI 1.5%PRS 26.2%
-
CSI 1.0rCSI 4.6%PRS 27.4%
-
CSI 1.0rCSI 2.1%PRS 38.4%
-
CSI 1.0rCSI 4.2%PRS 26.8%
-
CSI 1.1rCSI 2.8%PRS 50.6%
-
CSI 1.1rCSI 1.9%PRS 27.5%
-
CSI 1.1rCSI 3.1%PRS 22.4%
-
CSI 1.1rCSI 5.6%PRS 44.5%
-
CSI 1.1rCSI 1.7%PRS 39.5%
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration
Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.
Legend:
- Query Gene
-
Node Color (Target Cell CSI, relative to current network):
- Very High
- High
- Medium
- Low
- Very Low
- CSI N/A
- Node Size: Proportional to Target Cell CSI magnitude
- STRING PPI Edge
- Shared Pathway Edge (ONTOLOGY)
Other Information
This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.
Genular Protein ID: 257659886
Symbol: OFD1_HUMAN
Name: Oral-facial-digital syndrome 1 protein
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9722947
Title: Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains.
PubMed ID: 9722947
PubMed ID: 15772651
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 33934390
Title: The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation.
PubMed ID: 33934390
PubMed ID: 12595504
Title: OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells.
PubMed ID: 12595504
PubMed ID: 14654843
Title: Proteomic characterization of the human centrosome by protein correlation profiling.
PubMed ID: 14654843
DOI: 10.1038/nature02166
PubMed ID: 16783569
Title: A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.
PubMed ID: 16783569
PubMed ID: 17761535
Title: Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex.
PubMed ID: 17761535
PubMed ID: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
PubMed ID: 19800048
Title: OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
PubMed ID: 19800048
PubMed ID: 20230748
Title: Ofd1, a human disease gene, regulates the length and distal structure of centrioles.
PubMed ID: 20230748
PubMed ID: 20835237
Title: Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
PubMed ID: 20835237
DOI: 10.1038/ng.662
PubMed ID: 21406692
Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
PubMed ID: 21406692
PubMed ID: 22619378
Title: Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
PubMed ID: 22619378
DOI: 10.1093/hmg/dds194
PubMed ID: 24121310
Title: A new cellular stress response that triggers centriolar satellite reorganization and ciliogenesis.
PubMed ID: 24121310
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 24089205
Title: Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites.
PubMed ID: 24089205
DOI: 10.1038/nature12606
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 24997988
Title: The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
PubMed ID: 24997988
DOI: 10.1038/ng.3031
PubMed ID: 26643951
Title: OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.
PubMed ID: 26643951
DOI: 10.1093/hmg/ddv488
PubMed ID: 11179005
Title: Identification of the gene for oral-facial-digital type I syndrome.
PubMed ID: 11179005
DOI: 10.1086/318802
PubMed ID: 11950863
Title: Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1.
PubMed ID: 11950863
DOI: 10.1136/jmg.39.4.292
PubMed ID: 16397067
Title: Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.
PubMed ID: 16397067
PubMed ID: 23033313
Title: Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: A study of the extensive clinical variability.
PubMed ID: 23033313
DOI: 10.1002/humu.22224
PubMed ID: 26477546
Title: Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
PubMed ID: 26477546
Sequence Information:
- Length: 1012
- Mass: 116671
- Checksum: C2BF4376F89E6738
- Sequence:
MMAQSNMFTV ADVLSQDELR KKLYQTFKDR GILDTLKTQL RNQLIHELMH PVLSGELQPR SISVEGSSLL IGASNSLVAD HLQRCGYEYS LSVFFPESGL AKEKVFTMQD LLQLIKINPT SSLYKSLVSG SDKENQKGFL MHFLKELAEY HQAKESCNME TQTSSTFNRD SLAEKLQLID DQFADAYPQR IKFESLEIKL NEYKREIEEQ LRAEMCQKLK FFKDTEIAKI KMEAKKKYEK ELTMFQNDFE KACQAKSEAL VLREKSTLER IHKHQEIETK EIYAQRQLLL KDMDLLRGRE AELKQRVEAF ELNQKLQEEK HKSITEALRR QEQNIKSFEE TYDRKLKNEL LKYQLELKDD YIIRTNRLIE DERKNKEKAV HLQEELIAIN SKKEELNQSV NRVKELELEL ESVKAQSLAI TKQNHMLNEK VKEMSDYSLL KEEKLELLAQ NKLLKQQLEE SRNENLRLLN RLAQPAPELA VFQKELRKAE KAIVVEHEEF ESCRQALHKQ LQDEIEHSAQ LKAQILGYKA SVKSLTTQVA DLKLQLKQTQ TALENEVYCN PKQSVIDRSV NGLINGNVVP CNGEISGDFL NNPFKQENVL ARMVASRITN YPTAWVEGSS PDSDLEFVAN TKARVKELQQ EAERLEKAFR SYHRRVIKNS AKSPLAAKSP PSLHLLEAFK NITSSSPERH IFGEDRVVSE QPQVGTLEER NDVVEALTGS AASRLRGGTS SRRLSSTPLP KAKRSLESEM YLEGLGRSHI ASPSPCPDRM PLPSPTESRH SLSIPPVSSP PEQKVGLYRR QTELQDKSEF SDVDKLAFKD NEEFESSFES AGNMPRQLEM GGLSPAGDMS HVDAAAAAVP LSYQHPSVDQ KQIEEQKEEE KIREQQVKER RQREERRQSN LQEVLERERR ELEKLYQERK MIEESLKIKI KKELEMENEL EMSNQEIKDK SAHSENPLEK YMKIIQQEQD QESADKSSKK MVQEGSLVDT LQSSDKVESL TGFSHEELDD SW