Details for: FAH
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: 46.2245
Cell Significance Index: -7.1900 - Cell Name: smooth muscle fiber of ileum (CL1000278)
Fold Change: 28.0012
Cell Significance Index: -13.2200 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 26.4611
Cell Significance Index: -10.7500 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 17.5049
Cell Significance Index: -4.4400 - Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 12.1080
Cell Significance Index: -11.5600 - Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 8.8081
Cell Significance Index: -10.8600 - Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 4.5542
Cell Significance Index: -12.2000 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 2.9954
Cell Significance Index: -11.8200 - Cell Name: decidual cell (CL2000002)
Fold Change: 2.3277
Cell Significance Index: 37.3500 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 1.8172
Cell Significance Index: 345.8200 - Cell Name: pro-T cell (CL0000827)
Fold Change: 1.7779
Cell Significance Index: 45.4200 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: 1.7376
Cell Significance Index: 90.5100 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 1.4591
Cell Significance Index: 39.0300 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 1.1332
Cell Significance Index: 112.1000 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 1.0440
Cell Significance Index: 27.9800 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.9565
Cell Significance Index: 57.4200 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.8235
Cell Significance Index: 743.5200 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.7796
Cell Significance Index: 84.8000 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: 0.6538
Cell Significance Index: 76.1900 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.6081
Cell Significance Index: 98.9100 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 0.5438
Cell Significance Index: 7.4200 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.5391
Cell Significance Index: 106.9800 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 0.5258
Cell Significance Index: 39.1900 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.5148
Cell Significance Index: 26.7400 - Cell Name: early promyelocyte (CL0002154)
Fold Change: 0.4402
Cell Significance Index: 2.8100 - Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: 0.4127
Cell Significance Index: 12.1200 - Cell Name: centrilobular region hepatocyte (CL0019029)
Fold Change: 0.4111
Cell Significance Index: 6.9300 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.4040
Cell Significance Index: 27.9400 - Cell Name: kidney epithelial cell (CL0002518)
Fold Change: 0.3439
Cell Significance Index: 10.1300 - Cell Name: kidney cell (CL1000497)
Fold Change: 0.3181
Cell Significance Index: 2.5400 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: 0.3087
Cell Significance Index: 14.5100 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.2984
Cell Significance Index: 40.9800 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.2903
Cell Significance Index: 8.3700 - Cell Name: hepatoblast (CL0005026)
Fold Change: 0.2830
Cell Significance Index: 4.7600 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 0.2261
Cell Significance Index: 6.1600 - Cell Name: cell in vitro (CL0001034)
Fold Change: 0.2045
Cell Significance Index: 111.7000 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.1979
Cell Significance Index: 8.9700 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.1521
Cell Significance Index: 105.2200 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 0.1424
Cell Significance Index: 6.6400 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.1292
Cell Significance Index: 2.8000 - Cell Name: lactocyte (CL0002325)
Fold Change: 0.1266
Cell Significance Index: 16.3500 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: 0.1261
Cell Significance Index: 8.9200 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.1200
Cell Significance Index: 14.7600 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.1127
Cell Significance Index: 2.4000 - Cell Name: pulmonary interstitial fibroblast (CL0002241)
Fold Change: 0.1107
Cell Significance Index: 0.6800 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.1080
Cell Significance Index: 19.4700 - Cell Name: odontoblast (CL0000060)
Fold Change: 0.0963
Cell Significance Index: 12.3500 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 0.0948
Cell Significance Index: 2.6500 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.0868
Cell Significance Index: 2.7800 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.0752
Cell Significance Index: 33.2500 - Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: 0.0616
Cell Significance Index: 0.6700 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.0523
Cell Significance Index: 18.7700 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 0.0483
Cell Significance Index: 1.2900 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: 0.0377
Cell Significance Index: 28.5400 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: 0.0316
Cell Significance Index: 0.7900 - Cell Name: Hofbauer cell (CL3000001)
Fold Change: 0.0245
Cell Significance Index: 0.2000 - Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
Fold Change: 0.0227
Cell Significance Index: 0.1400 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.0165
Cell Significance Index: 1.2700 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.0162
Cell Significance Index: 0.5700 - Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.0114
Cell Significance Index: 20.9600 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.0107
Cell Significance Index: 20.1600 - Cell Name: subcutaneous adipocyte (CL0002521)
Fold Change: 0.0092
Cell Significance Index: 0.0400 - Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.0082
Cell Significance Index: 0.0900 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.0072
Cell Significance Index: 11.0700 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.0057
Cell Significance Index: 7.7800 - Cell Name: peg cell (CL4033014)
Fold Change: 0.0044
Cell Significance Index: 0.1000 - Cell Name: abnormal cell (CL0001061)
Fold Change: 0.0030
Cell Significance Index: 0.3100 - Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: 0.0007
Cell Significance Index: 0.0100 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: 0.0002
Cell Significance Index: 0.1800 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: -0.0018
Cell Significance Index: -0.3500 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.0084
Cell Significance Index: -0.1400 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0099
Cell Significance Index: -6.2700 - Cell Name: periportal region hepatocyte (CL0019026)
Fold Change: -0.0115
Cell Significance Index: -0.1700 - Cell Name: corneal epithelial cell (CL0000575)
Fold Change: -0.0155
Cell Significance Index: -0.2200 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0156
Cell Significance Index: -11.5400 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0231
Cell Significance Index: -13.0100 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0242
Cell Significance Index: -15.1200 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0248
Cell Significance Index: -11.2500 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0288
Cell Significance Index: -4.9100 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0321
Cell Significance Index: -4.6700 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0329
Cell Significance Index: -9.4800 - Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: -0.0347
Cell Significance Index: -0.2700 - Cell Name: granulosa cell (CL0000501)
Fold Change: -0.0519
Cell Significance Index: -1.3700 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.0580
Cell Significance Index: -6.8400 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0590
Cell Significance Index: -6.7700 - Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.0667
Cell Significance Index: -4.3000 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0720
Cell Significance Index: -15.1600 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.0795
Cell Significance Index: -6.3000 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: -0.0879
Cell Significance Index: -1.8400 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.1025
Cell Significance Index: -10.6700 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.1112
Cell Significance Index: -5.8400 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: -0.1381
Cell Significance Index: -4.8000 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.1540
Cell Significance Index: -9.4400 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.1557
Cell Significance Index: -10.4700 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.1642
Cell Significance Index: -4.2200 - Cell Name: interstitial cell of ovary (CL0002094)
Fold Change: -0.1671
Cell Significance Index: -2.1400 - Cell Name: proerythroblast (CL0000547)
Fold Change: -0.1675
Cell Significance Index: -2.4000 - Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: -0.1677
Cell Significance Index: -3.1000 - Cell Name: BEST4+ enteroycte (CL4030026)
Fold Change: -0.1838
Cell Significance Index: -2.7700 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -0.2083
Cell Significance Index: -5.9700
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: 171686936
Symbol: FAAA_HUMAN
Name: Fumarylacetoacetase
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 1998338
Title: Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.
PubMed ID: 1998338
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: 16572171
Title: Analysis of the DNA sequence and duplication history of human chromosome 15.
PubMed ID: 16572171
DOI: 10.1038/nature04601
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: 2336361
Title: Nucleotide sequence of cDNA encoding human fumarylacetoacetase.
PubMed ID: 2336361
PubMed ID: 9101289
Title: Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.
PubMed ID: 9101289
DOI: 10.1002/(sici)1098-1004(1997)9:4<291::aid-humu1>3.0.co;2-9
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 1401056
Title: Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.
PubMed ID: 1401056
DOI: 10.1172/jci115979
PubMed ID: 8364576
Title: Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.
PubMed ID: 8364576
DOI: 10.1093/hmg/2.7.941
PubMed ID: 8318997
Title: Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.
PubMed ID: 8318997
PubMed ID: 7942842
Title: Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.
PubMed ID: 7942842
PubMed ID: 7977370
Title: Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.
PubMed ID: 7977370
PubMed ID: 8005583
Title: Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.
PubMed ID: 8005583
DOI: 10.1007/bf00201558
PubMed ID: 7757089
Title: Two novel mutations involved in hereditary tyrosinemia type I.
PubMed ID: 7757089
DOI: 10.1093/hmg/4.2.319
PubMed ID: 7550234
Title: Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
PubMed ID: 7550234
PubMed ID: 8557261
Title: Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.
PubMed ID: 8557261
DOI: 10.1007/bf00218833
PubMed ID: 9633815
Title: Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
PubMed ID: 9633815
DOI: 10.1002/(sici)1098-1004(1998)12:1<19::aid-humu3>3.0.co;2-3
PubMed ID: 11196105
Title: Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.
PubMed ID: 11196105
PubMed ID: 11476670
Title: A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.
PubMed ID: 11476670
PubMed ID: 11278491
Title: Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.
PubMed ID: 11278491
PubMed ID: 20003495
Title: A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.
PubMed ID: 20003495
PubMed ID: 27535533
Title: Analysis of protein-coding genetic variation in 60,706 humans.
PubMed ID: 27535533
DOI: 10.1038/nature19057
Sequence Information:
- Length: 419
- Mass: 46374
- Checksum: 12EA8D8074C55BB2
- Sequence:
MSFIPVAEDS DFPIHNLPYG VFSTRGDPRP RIGVAIGDQI LDLSIIKHLF TGPVLSKHQD VFNQPTLNSF MGLGQAAWKE ARVFLQNLLS VSQARLRDDT ELRKCAFISQ ASATMHLPAT IGDYTDFYSS RQHATNVGIM FRDKENALMP NWLHLPVGYH GRASSVVVSG TPIRRPMGQM KPDDSKPPVY GACKLLDMEL EMAFFVGPGN RLGEPIPISK AHEHIFGMVL MNDWSARDIQ KWEYVPLGPF LGKSFGTTVS PWVVPMDALM PFAVPNPKQD PRPLPYLCHD EPYTFDINLS VNLKGEGMSQ AATICKSNFK YMYWTMLQQL THHSVNGCNL RPGDLLASGT ISGPEPENFG SMLELSWKGT KPIDLGNGQT RKFLLDGDEV IITGYCQGDG YRIGFGQCAG KVLPALLPS
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.