Details for: BCS1L
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: 65.1258
Cell Significance Index: -10.1300 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 37.6907
Cell Significance Index: -9.5600 - Cell Name: embryonic stem cell (CL0002322)
Fold Change: 28.9843
Cell Significance Index: -11.9400 - Cell Name: smooth muscle fiber of ileum (CL1000278)
Fold Change: 27.5776
Cell Significance Index: -13.0200 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 27.2488
Cell Significance Index: -11.0700 - Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 11.6471
Cell Significance Index: -11.1200 - Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 10.1382
Cell Significance Index: -12.5000 - Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 3.9009
Cell Significance Index: -10.4500 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 3.2919
Cell Significance Index: -12.9900 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 1.4179
Cell Significance Index: 140.2600 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 1.0008
Cell Significance Index: 903.6300 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.8767
Cell Significance Index: 52.6300 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.7495
Cell Significance Index: 121.9000 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.6908
Cell Significance Index: 31.3100 - Cell Name: microcirculation associated smooth muscle cell (CL0008035)
Fold Change: 0.6595
Cell Significance Index: 5.5400 - Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: 0.5869
Cell Significance Index: 6.3800 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.5357
Cell Significance Index: 27.8300 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.4758
Cell Significance Index: 13.7100 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.4508
Cell Significance Index: 31.1800 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 0.3834
Cell Significance Index: 10.7200 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 0.3605
Cell Significance Index: 9.6600 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: 0.3488
Cell Significance Index: 7.3000 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 0.3470
Cell Significance Index: 21.8700 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 0.3393
Cell Significance Index: 9.2400 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.2982
Cell Significance Index: 59.1700 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: 0.2721
Cell Significance Index: 31.7200 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: 0.2609
Cell Significance Index: 12.2600 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: 0.2584
Cell Significance Index: 8.9800 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.2519
Cell Significance Index: 34.5900 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 0.2334
Cell Significance Index: 10.8800 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.1954
Cell Significance Index: 35.2300 - Cell Name: cell in vitro (CL0001034)
Fold Change: 0.1756
Cell Significance Index: 95.9000 - Cell Name: odontoblast (CL0000060)
Fold Change: 0.1506
Cell Significance Index: 19.3100 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.1499
Cell Significance Index: 18.4300 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.1449
Cell Significance Index: 27.5800 - Cell Name: lactocyte (CL0002325)
Fold Change: 0.1355
Cell Significance Index: 17.5100 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.1307
Cell Significance Index: 57.7800 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.1234
Cell Significance Index: 24.7500 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.1205
Cell Significance Index: 3.8600 - Cell Name: early pro-B cell (CL0002046)
Fold Change: 0.1193
Cell Significance Index: 7.7000 - Cell Name: granulosa cell (CL0000501)
Fold Change: 0.1152
Cell Significance Index: 3.0300 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.1141
Cell Significance Index: 2.4300 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.0954
Cell Significance Index: 16.2900 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: 0.0881
Cell Significance Index: 4.6300 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: 0.0863
Cell Significance Index: 6.1000 - Cell Name: paneth cell of colon (CL0009009)
Fold Change: 0.0707
Cell Significance Index: 1.0600 - Cell Name: endothelial cell of venule (CL1000414)
Fold Change: 0.0660
Cell Significance Index: 0.7500 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 0.0657
Cell Significance Index: 4.9000 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: 0.0534
Cell Significance Index: 6.3000 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.0410
Cell Significance Index: 14.7200 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: 0.0225
Cell Significance Index: 1.1700 - Cell Name: interstitial cell of ovary (CL0002094)
Fold Change: 0.0215
Cell Significance Index: 0.2800 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.0095
Cell Significance Index: 0.7300 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: 0.0039
Cell Significance Index: 0.0700 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0009
Cell Significance Index: -0.6900 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: -0.0009
Cell Significance Index: -1.6800 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0020
Cell Significance Index: -1.5000 - Cell Name: kidney cell (CL1000497)
Fold Change: -0.0025
Cell Significance Index: -0.0200 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0027
Cell Significance Index: -2.0800 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0033
Cell Significance Index: -2.0800 - Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0036
Cell Significance Index: -6.5500 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.0056
Cell Significance Index: -0.1500 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0060
Cell Significance Index: -9.1700 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0096
Cell Significance Index: -13.0100 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0102
Cell Significance Index: -6.4700 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0114
Cell Significance Index: -6.4500 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0158
Cell Significance Index: -1.6100 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0200
Cell Significance Index: -9.0800 - Cell Name: pro-T cell (CL0000827)
Fold Change: -0.0243
Cell Significance Index: -0.6200 - Cell Name: retinal rod cell (CL0000604)
Fold Change: -0.0247
Cell Significance Index: -0.3000 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0261
Cell Significance Index: -5.4900 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0319
Cell Significance Index: -9.1700 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0365
Cell Significance Index: -5.3000 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0383
Cell Significance Index: -4.3900 - Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: -0.0449
Cell Significance Index: -5.1200 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.0511
Cell Significance Index: -3.1400 - Cell Name: peg cell (CL4033014)
Fold Change: -0.0645
Cell Significance Index: -1.4900 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: -0.0711
Cell Significance Index: -1.5400 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.0757
Cell Significance Index: -4.2500 - Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: -0.0906
Cell Significance Index: -2.6600 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: -0.0911
Cell Significance Index: -3.2000 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -0.1161
Cell Significance Index: -3.1100 - Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.1202
Cell Significance Index: -3.5400 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.1204
Cell Significance Index: -3.0100 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.1232
Cell Significance Index: -12.8300 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.1239
Cell Significance Index: -9.8200 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: -0.1239
Cell Significance Index: -1.6900 - Cell Name: Purkinje cell (CL0000121)
Fold Change: -0.1279
Cell Significance Index: -2.8000 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.1362
Cell Significance Index: -9.1600 - Cell Name: keratocyte (CL0002363)
Fold Change: -0.1541
Cell Significance Index: -2.4500 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.1625
Cell Significance Index: -9.9700 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.1965
Cell Significance Index: -5.0500 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -0.2058
Cell Significance Index: -5.9000 - Cell Name: periportal region hepatocyte (CL0019026)
Fold Change: -0.2185
Cell Significance Index: -3.2300 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.2521
Cell Significance Index: -11.1500 - Cell Name: umbrella cell of urothelium (CL4030056)
Fold Change: -0.2623
Cell Significance Index: -2.4200 - Cell Name: proerythroblast (CL0000547)
Fold Change: -0.2659
Cell Significance Index: -3.8100 - Cell Name: vascular lymphangioblast (CL0005022)
Fold Change: -0.2682
Cell Significance Index: -4.7400 - Cell Name: stratified epithelial cell (CL0000079)
Fold Change: -0.2686
Cell Significance Index: -9.8600 - Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: -0.2768
Cell Significance Index: -2.8700
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: 3336524564
Symbol: BCS1_HUMAN
Name: Mitochondrial chaperone BCS1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9878253
Title: Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.
PubMed ID: 9878253
PubMed ID: 11528392
Title: A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
PubMed ID: 11528392
DOI: 10.1038/ng706
PubMed ID: 12215968
Title: GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
PubMed ID: 12215968
DOI: 10.1086/342773
PubMed ID: 9110174
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
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: 18628306
Title: Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L.
PubMed ID: 18628306
DOI: 10.1242/jcs.026625
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 12910490
Title: Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.
PubMed ID: 12910490
DOI: 10.1002/ajmg.a.20171
PubMed ID: 17403714
Title: Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
PubMed ID: 17403714
DOI: 10.1093/hmg/ddm072
PubMed ID: 17314340
Title: Missense mutations in the BCS1L gene as a cause of the Bjoernstad syndrome.
PubMed ID: 17314340
DOI: 10.1056/nejmoa055262
PubMed ID: 19162478
Title: Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.
PubMed ID: 19162478
PubMed ID: 24172246
Title: Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
PubMed ID: 24172246
DOI: 10.1038/jhg.2013.101
PubMed ID: 22991165
Title: Clinical and biochemical features associated with BCS1L mutation.
PubMed ID: 22991165
PubMed ID: 38423010
Title: Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
PubMed ID: 38423010
Sequence Information:
- Length: 419
- Mass: 47534
- Checksum: 7F0F98BA62F2CBB8
- Sequence:
MPLSDFILAL KDNPYFGAGF GLVGVGTALA LARKGVQLGL VAFRRHYMIT LEVPARDRSY AWLLSWLTRH STRTQHLSVE TSYLQHESGR ISTKFEFVPS PGNHFIWYRG KWIRVERSRE MQMIDLQTGT PWESVTFTAL GTDRKVFFNI LEEARELALQ QEEGKTVMYT AVGSEWRPFG YPRRRRPLNS VVLQQGLADR IVRDVQEFID NPKWYTDRGI PYRRGYLLYG PPGCGKSSFI TALAGELEHS ICLLSLTDSS LSDDRLNHLL SVAPQQSLVL LEDVDAAFLS RDLAVENPVK YQGLGRLTFS GLLNALDGVA STEARIVFMT TNHVDRLDPA LIRPGRVDLK EYVGYCSHWQ LTQMFQRFYP GQAPSLAENF AEHVLRATNQ ISPAQVQGYF MLYKNDPVGA IHNAESLRR
Genular Protein ID: 2908627592
Symbol: A8JZZ8_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 419
- Mass: 47550
- Checksum: 2E4BD69C0EF9EBFF
- Sequence:
MPLSDFILAL KDNPYFGAGF GLVGVGTALA LARKGVQLGL VAFRRHYMIT LEVPARDRSY AWLLSWLTRH STRTQHLSVE TSYLQHESGR ISTKFEFVPS LGNHFIWYRG KWIRVERSRE MQMIDLQTGT PWESVTFTAL GTDRKVFFNI LEEARELALQ QEEGKTVMYT AVGSEWRPFG YPRRRRPLNS VVLQQGLADR IVRDVQEFID NPKWYTDRGI PYRRGYLLYG PPGCGKSSFI TALAGELEHS ICLLSLTDSS LSDDRLNHLL SVAPQQSLVL LEDVDAAFLS RDLAVENPVK YQGLGRLTFS GLLNALDGVA STEARIVFMT TNHVDRLDPA LIRPGRVDLK EYVGYCSHWQ LTQMFQRFYP GQAPSLAENF AEHVLRATNQ ISPAQVQGYF MLYKNDPVGA IHNAESLRR
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.