Details for: OFD1
Associated with
Cells (max top 100)
(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: polychromatophilic erythroblast (CL0000550)
Fold Change: 289.7550
Cell Significance Index: -45.0700 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 157.6229
Cell Significance Index: -39.9800 - Cell Name: smooth muscle fiber of ileum (CL1000278)
Fold Change: 104.6232
Cell Significance Index: -49.4000 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 103.5305
Cell Significance Index: -42.0600 - Cell Name: peripheral blood mononuclear cell (CL2000001)
Fold Change: 94.4428
Cell Significance Index: -48.5800 - Cell Name: ileal goblet cell (CL1000326)
Fold Change: 73.8724
Cell Significance Index: -49.5700 - Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 44.2632
Cell Significance Index: -42.2600 - Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 38.5821
Cell Significance Index: -47.5700 - Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 14.8589
Cell Significance Index: -39.8100 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 12.3034
Cell Significance Index: -48.5500 - Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 10.2395
Cell Significance Index: -22.4100 - Cell Name: early pro-B cell (CL0002046)
Fold Change: 3.0847
Cell Significance Index: 199.0100 - Cell Name: retinal rod cell (CL0000604)
Fold Change: 1.4102
Cell Significance Index: 16.8100 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: 1.3596
Cell Significance Index: 63.9000 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 1.2363
Cell Significance Index: 64.2200 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 1.2208
Cell Significance Index: 33.2300 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 1.2166
Cell Significance Index: 241.4300 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 1.2053
Cell Significance Index: 54.6300 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 1.0622
Cell Significance Index: 213.0800 - Cell Name: lactocyte (CL0002325)
Fold Change: 1.0222
Cell Significance Index: 132.0600 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 0.9812
Cell Significance Index: 27.4200 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.9621
Cell Significance Index: 27.7200 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.8293
Cell Significance Index: 748.7700 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: 0.7956
Cell Significance Index: 93.8200 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: 0.7490
Cell Significance Index: 42.0300 - Cell Name: odontoblast (CL0000060)
Fold Change: 0.7062
Cell Significance Index: 90.5400 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.6890
Cell Significance Index: 68.1600 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.6036
Cell Significance Index: 108.8100 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.5951
Cell Significance Index: 213.4700 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 0.5749
Cell Significance Index: 26.8100 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.5290
Cell Significance Index: 65.0500 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.5020
Cell Significance Index: 68.9500 - Cell Name: cell in vitro (CL0001034)
Fold Change: 0.4867
Cell Significance Index: 265.7900 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.4433
Cell Significance Index: 34.0200 - Cell Name: peg cell (CL4033014)
Fold Change: 0.4168
Cell Significance Index: 9.6300 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.4098
Cell Significance Index: 283.4600 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 0.3891
Cell Significance Index: 10.3900 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 0.3523
Cell Significance Index: 26.2600 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.3331
Cell Significance Index: 147.2500 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: 0.3077
Cell Significance Index: 18.9100 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: 0.2904
Cell Significance Index: 7.2600 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.2757
Cell Significance Index: 19.0700 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 0.2558
Cell Significance Index: 16.1200 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.2479
Cell Significance Index: 47.1800 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: 0.1481
Cell Significance Index: 6.5500 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.0958
Cell Significance Index: 180.4200 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 0.0943
Cell Significance Index: 59.8700 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.0924
Cell Significance Index: 15.7700 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.0632
Cell Significance Index: 2.2200 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.0455
Cell Significance Index: 70.0700 - Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.0342
Cell Significance Index: 63.0500 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: 0.0275
Cell Significance Index: 1.0400 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.0191
Cell Significance Index: 25.9100 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: 0.0137
Cell Significance Index: 0.9700 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0104
Cell Significance Index: -7.5900 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0182
Cell Significance Index: -13.4800 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0195
Cell Significance Index: -8.8500 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0235
Cell Significance Index: -17.8100 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0321
Cell Significance Index: -20.0300 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0618
Cell Significance Index: -34.8800 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0804
Cell Significance Index: -8.2100 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.0865
Cell Significance Index: -4.5100 - Cell Name: preadipocyte (CL0002334)
Fold Change: -0.0866
Cell Significance Index: -1.6900 - Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: -0.1078
Cell Significance Index: -12.3100 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.1259
Cell Significance Index: -26.5100 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.1430
Cell Significance Index: -41.1400 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.1504
Cell Significance Index: -17.2300 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.1573
Cell Significance Index: -22.8700 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.2026
Cell Significance Index: -13.6300 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: -0.2367
Cell Significance Index: -5.0400 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.2562
Cell Significance Index: -29.8600 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.2646
Cell Significance Index: -13.8900 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: -0.2912
Cell Significance Index: -10.1200 - Cell Name: umbrella cell of urothelium (CL4030056)
Fold Change: -0.3149
Cell Significance Index: -2.9000 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: -0.3965
Cell Significance Index: -5.4100 - Cell Name: granulosa cell (CL0000501)
Fold Change: -0.4027
Cell Significance Index: -10.5900 - Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: -0.4086
Cell Significance Index: -4.2300 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.4123
Cell Significance Index: -42.9300 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: -0.4643
Cell Significance Index: -10.0600 - Cell Name: cortical interneuron (CL0008031)
Fold Change: -0.4881
Cell Significance Index: -11.7100 - Cell Name: cerebellar granule cell (CL0001031)
Fold Change: -0.5042
Cell Significance Index: -8.6400 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -0.5204
Cell Significance Index: -13.9200 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.5342
Cell Significance Index: -42.3100 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -0.5425
Cell Significance Index: -15.5500 - Cell Name: pro-T cell (CL0000827)
Fold Change: -0.6016
Cell Significance Index: -15.3700 - Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: -0.6475
Cell Significance Index: -19.0200 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.6921
Cell Significance Index: -17.7900 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.7245
Cell Significance Index: -44.4200 - Cell Name: Purkinje cell (CL0000121)
Fold Change: -0.8073
Cell Significance Index: -17.6800 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.8711
Cell Significance Index: -27.9000 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: -0.8808
Cell Significance Index: -23.6000 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.8957
Cell Significance Index: -14.9900 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.9627
Cell Significance Index: -31.5200 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.9671
Cell Significance Index: -30.8000 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: -0.9980
Cell Significance Index: -20.8900 - Cell Name: leptomeningeal cell (CL0000708)
Fold Change: -1.0512
Cell Significance Index: -22.4700 - Cell Name: paneth cell of colon (CL0009009)
Fold Change: -1.0551
Cell Significance Index: -15.8100 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -1.0556
Cell Significance Index: -36.9800 - Cell Name: stratified epithelial cell (CL0000079)
Fold Change: -1.0736
Cell Significance Index: -39.4100 - Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: -1.1024
Cell Significance Index: -31.4600
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.
Other Information
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
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.