Details for: BBS1
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: 74.3514
Cell Significance Index: -11.5700 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 45.0238
Cell Significance Index: -11.4200 - Cell Name: smooth muscle fiber of ileum (CL1000278)
Fold Change: 22.5789
Cell Significance Index: -10.6600 - Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 9.4205
Cell Significance Index: -11.6200 - Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 3.5985
Cell Significance Index: -9.6400 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 2.9561
Cell Significance Index: -11.6700 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 2.0330
Cell Significance Index: 386.8900 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 1.1903
Cell Significance Index: 238.7800 - Cell Name: Purkinje cell (CL0000121)
Fold Change: 0.7821
Cell Significance Index: 17.1300 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.7381
Cell Significance Index: 56.6400 - Cell Name: cortical interneuron (CL0008031)
Fold Change: 0.7099
Cell Significance Index: 17.0300 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.6121
Cell Significance Index: 219.5600 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: 0.5957
Cell Significance Index: 26.3500 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: 0.5752
Cell Significance Index: 21.7800 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 0.5604
Cell Significance Index: 15.0200 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.5289
Cell Significance Index: 31.7500 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: 0.4967
Cell Significance Index: 30.5300 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.4634
Cell Significance Index: 83.5400 - Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: 0.4071
Cell Significance Index: 20.5700 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.3923
Cell Significance Index: 38.8100 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: 0.3530
Cell Significance Index: 19.8100 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.3414
Cell Significance Index: 37.1300 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 0.3353
Cell Significance Index: 21.1300 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.3268
Cell Significance Index: 295.1200 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.2781
Cell Significance Index: 34.1900 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.2091
Cell Significance Index: 34.0100 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.2034
Cell Significance Index: 5.8600 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: 0.1776
Cell Significance Index: 4.4400 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 0.1734
Cell Significance Index: 49.8800 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.1710
Cell Significance Index: 3.7100 - Cell Name: peg cell (CL4033014)
Fold Change: 0.1593
Cell Significance Index: 3.6800 - Cell Name: umbrella cell of urothelium (CL4030056)
Fold Change: 0.1569
Cell Significance Index: 1.4500 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.1487
Cell Significance Index: 10.2900 - Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 0.1072
Cell Significance Index: 1.3300 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.1026
Cell Significance Index: 4.6500 - Cell Name: odontoblast (CL0000060)
Fold Change: 0.0498
Cell Significance Index: 6.3900 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.0236
Cell Significance Index: 0.8300 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.0147
Cell Significance Index: 2.0200 - Cell Name: cell in vitro (CL0001034)
Fold Change: 0.0062
Cell Significance Index: 3.3900 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: 0.0013
Cell Significance Index: 0.1500 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: -0.0049
Cell Significance Index: -9.3200 - Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0056
Cell Significance Index: -10.3400 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0069
Cell Significance Index: -10.6300 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0088
Cell Significance Index: -12.0000 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0106
Cell Significance Index: -7.8500 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0112
Cell Significance Index: -8.2400 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: -0.0128
Cell Significance Index: -5.6400 - Cell Name: thymocyte (CL0000893)
Fold Change: -0.0131
Cell Significance Index: -0.1600 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0140
Cell Significance Index: -10.6200 - Cell Name: eukaryotic cell (CL0000255)
Fold Change: -0.0145
Cell Significance Index: -0.6300 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0153
Cell Significance Index: -9.6900 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0165
Cell Significance Index: -9.3000 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0186
Cell Significance Index: -11.6100 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0225
Cell Significance Index: -10.2000 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.0257
Cell Significance Index: -1.2100 - Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -0.0283
Cell Significance Index: -0.6000 - Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: -0.0301
Cell Significance Index: -0.6300 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0418
Cell Significance Index: -4.7900 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.0472
Cell Significance Index: -5.5700 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0527
Cell Significance Index: -11.1100 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.0528
Cell Significance Index: -2.4600 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0573
Cell Significance Index: -9.7800 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0632
Cell Significance Index: -6.4600 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0640
Cell Significance Index: -9.3000 - Cell Name: lactocyte (CL0002325)
Fold Change: -0.0641
Cell Significance Index: -8.2900 - Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: -0.0678
Cell Significance Index: -1.3400 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: -0.0681
Cell Significance Index: -1.4500 - Cell Name: radial glial cell (CL0000681)
Fold Change: -0.0682
Cell Significance Index: -0.4100 - Cell Name: OFF midget ganglion cell (CL4033047)
Fold Change: -0.0730
Cell Significance Index: -0.9100 - Cell Name: glioblast (CL0000030)
Fold Change: -0.0748
Cell Significance Index: -0.4700 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.0825
Cell Significance Index: -2.7000 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: -0.0830
Cell Significance Index: -2.2600 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.0921
Cell Significance Index: -2.4600 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.0958
Cell Significance Index: -3.0500 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -0.0988
Cell Significance Index: -5.1300 - Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: -0.1029
Cell Significance Index: -1.7800 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.1055
Cell Significance Index: -7.8600 - Cell Name: VIP GABAergic cortical interneuron (CL4023016)
Fold Change: -0.1081
Cell Significance Index: -2.1700 - Cell Name: retinal rod cell (CL0000604)
Fold Change: -0.1099
Cell Significance Index: -1.3100 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.1102
Cell Significance Index: -3.5300 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.1130
Cell Significance Index: -6.9300 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.1135
Cell Significance Index: -11.8200 - Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.1155
Cell Significance Index: -7.4500 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.1250
Cell Significance Index: -9.9000 - Cell Name: ON midget ganglion cell (CL4033046)
Fold Change: -0.1291
Cell Significance Index: -1.6300 - Cell Name: BEST4+ enteroycte (CL4030026)
Fold Change: -0.1400
Cell Significance Index: -2.1100 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.1427
Cell Significance Index: -10.0900 - Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: -0.1478
Cell Significance Index: -3.0900 - Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: -0.1491
Cell Significance Index: -3.7200 - Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: -0.1505
Cell Significance Index: -2.1600 - Cell Name: granulosa cell (CL0000501)
Fold Change: -0.1574
Cell Significance Index: -4.1400 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.1584
Cell Significance Index: -5.5500 - Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: -0.1652
Cell Significance Index: -3.5700 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.1687
Cell Significance Index: -8.8600 - Cell Name: midget ganglion cell of retina (CL4023188)
Fold Change: -0.1709
Cell Significance Index: -1.7800 - Cell Name: neuron (CL0000540)
Fold Change: -0.1751
Cell Significance Index: -1.6600 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -0.1774
Cell Significance Index: -5.0900 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: -0.2364
Cell Significance Index: -8.2200 - Cell Name: leptomeningeal cell (CL0000708)
Fold Change: -0.2398
Cell Significance Index: -5.1300 - Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: -0.2605
Cell Significance Index: -7.6500
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: 534285564
Symbol: BBS1_HUMAN
Name: BBS2-like protein 2
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 12118255
Title: Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
PubMed ID: 12118255
DOI: 10.1038/ng935
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16554811
Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.
PubMed ID: 16554811
DOI: 10.1038/nature04632
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: 16327777
Title: Dissection of epistasis in oligogenic Bardet-Biedl syndrome.
PubMed ID: 16327777
DOI: 10.1038/nature04370
PubMed ID: 17574030
Title: A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.
PubMed ID: 17574030
PubMed ID: 18000879
Title: Novel interaction partners of Bardet-Biedl syndrome proteins.
PubMed ID: 18000879
DOI: 10.1002/cm.20250
PubMed ID: 19413330
Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
PubMed ID: 19413330
DOI: 10.1021/ac9004309
PubMed ID: 22072986
Title: A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.
PubMed ID: 22072986
PubMed ID: 24939912
Title: Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.
PubMed ID: 24939912
DOI: 10.1093/hmg/ddu267
PubMed ID: 12524598
Title: Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
PubMed ID: 12524598
DOI: 10.1086/346172
PubMed ID: 12567324
Title: Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
PubMed ID: 12567324
DOI: 10.1086/368204
PubMed ID: 12677556
Title: Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
PubMed ID: 12677556
DOI: 10.1086/375178
PubMed ID: 12920096
Title: Further support for digenic inheritance in Bardet-Biedl syndrome.
PubMed ID: 12920096
PubMed ID: 15770229
Title: Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
PubMed ID: 15770229
PubMed ID: 21052717
Title: Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
PubMed ID: 21052717
PubMed ID: 21258341
Title: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
PubMed ID: 21258341
DOI: 10.1038/ng.756
PubMed ID: 21344540
Title: BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
PubMed ID: 21344540
DOI: 10.1002/humu.21480
Sequence Information:
- Length: 593
- Mass: 65083
- Checksum: 94C0C05667FE582D
- Sequence:
MAAASSSDSD ACGAESNEAN SKWLDAHYDP MANIHTFSAC LALADLHGDG EYKLVVGDLG PGGQQPRLKV LKGPLVMTES PLPALPAAAA TFLMEQHEPR TPALALASGP CVYVYKNLRP YFKFSLPQLP PNPLEQDLWN QAKEDRIDPL TLKEMLESIR ETAEEPLSIQ SLRFLQLELS EMEAFVNQHK SNSIKRQTVI TTMTTLKKNL ADEDAVSCLV LGTENKELLV LDPEAFTILA KMSLPSVPVF LEVSGQFDVE FRLAAACRNG NIYILRRDSK HPKYCIELSA QPVGLIRVHK VLVVGSTQDS LHGFTHKGKK LWTVQMPAAI LTMNLLEQHS RGLQAVMAGL ANGEVRIYRD KALLNVIHTP DAVTSLCFGR YGREDNTLIM TTRGGGLIIK ILKRTAVFVE GGSEVGPPPA QAMKLNVPRK TRLYVDQTLR EREAGTAMHR AFQTDLYLLR LRAARAYLQA LESSLSPLST TAREPLKLHA VVQGLGPTFK LTLHLQNTST TRPVLGLLVC FLYNEALYSL PRAFFKVPLL VPGLNYPLET FVESLSNKGI SDIIKVLVLR EGQSAPLLSA HVNMPGSEGL AAA
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.