Details for: PIGT
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: 212.4141
Cell Significance Index: -33.0400 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 117.9609
Cell Significance Index: -29.9200 - Cell Name: embryonic stem cell (CL0002322)
Fold Change: 101.0565
Cell Significance Index: -41.6300 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 83.6908
Cell Significance Index: -34.0000 - Cell Name: smooth muscle fiber of ileum (CL1000278)
Fold Change: 79.4921
Cell Significance Index: -37.5300 - Cell Name: peripheral blood mononuclear cell (CL2000001)
Fold Change: 73.2914
Cell Significance Index: -37.7000 - Cell Name: ileal goblet cell (CL1000326)
Fold Change: 56.2575
Cell Significance Index: -37.7500 - Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 35.8578
Cell Significance Index: -34.2400 - Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 29.5550
Cell Significance Index: -36.4400 - Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 11.6206
Cell Significance Index: -31.1300 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 9.4170
Cell Significance Index: -37.1600 - Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
Fold Change: 9.0153
Cell Significance Index: -27.6900 - Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 3.9797
Cell Significance Index: -8.7100 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: 3.8024
Cell Significance Index: 443.1300 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 2.1810
Cell Significance Index: 237.2300 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 1.4325
Cell Significance Index: 106.7600 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 1.2272
Cell Significance Index: 57.2200 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 1.0567
Cell Significance Index: 171.8700 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 1.0449
Cell Significance Index: 943.4400 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.9062
Cell Significance Index: 124.4500 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: 0.8580
Cell Significance Index: 17.9600 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.8512
Cell Significance Index: 58.8700 - Cell Name: cell in vitro (CL0001034)
Fold Change: 0.7960
Cell Significance Index: 434.7200 - Cell Name: odontoblast (CL0000060)
Fold Change: 0.7175
Cell Significance Index: 91.9800 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.6272
Cell Significance Index: 32.5800 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.6242
Cell Significance Index: 112.5300 - Cell Name: endothelial cell of venule (CL1000414)
Fold Change: 0.5766
Cell Significance Index: 6.5500 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.5631
Cell Significance Index: 96.1500 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 0.5507
Cell Significance Index: 14.7600 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 0.5035
Cell Significance Index: 13.7100 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.5017
Cell Significance Index: 99.5600 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.4887
Cell Significance Index: 60.0900 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.4675
Cell Significance Index: 13.4700 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.3783
Cell Significance Index: 167.2600 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.3552
Cell Significance Index: 35.1400 - Cell Name: early pro-B cell (CL0002046)
Fold Change: 0.3268
Cell Significance Index: 21.0900 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.3168
Cell Significance Index: 63.5500 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: 0.2697
Cell Significance Index: 31.8000 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.2693
Cell Significance Index: 51.2500 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: 0.2445
Cell Significance Index: 11.4900 - Cell Name: umbrella cell of urothelium (CL4030056)
Fold Change: 0.2389
Cell Significance Index: 2.2000 - Cell Name: lactocyte (CL0002325)
Fold Change: 0.2340
Cell Significance Index: 30.2300 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.1945
Cell Significance Index: 6.2300 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: 0.1905
Cell Significance Index: 9.9300 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: 0.1658
Cell Significance Index: 5.7600 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.1526
Cell Significance Index: 54.7400 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.0948
Cell Significance Index: 2.0200 - Cell Name: peg cell (CL4033014)
Fold Change: 0.0876
Cell Significance Index: 2.0300 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: 0.0802
Cell Significance Index: 5.6700 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 0.0785
Cell Significance Index: 2.2500 - Cell Name: granulosa cell (CL0000501)
Fold Change: 0.0766
Cell Significance Index: 2.0200 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.0274
Cell Significance Index: 18.9600 - Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: 0.0150
Cell Significance Index: 1.7100 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: 0.0127
Cell Significance Index: 0.2100 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0015
Cell Significance Index: -1.1400 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: -0.0058
Cell Significance Index: -10.8800 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0096
Cell Significance Index: -7.0800 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0107
Cell Significance Index: -7.8200 - Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0151
Cell Significance Index: -27.8100 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0155
Cell Significance Index: -23.9300 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0164
Cell Significance Index: -1.6800 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.0172
Cell Significance Index: -0.4600 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0212
Cell Significance Index: -13.2200 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0260
Cell Significance Index: -35.3600 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0340
Cell Significance Index: -21.6000 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0451
Cell Significance Index: -25.4400 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0618
Cell Significance Index: -28.0300 - Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: -0.0678
Cell Significance Index: -1.9900 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0734
Cell Significance Index: -15.4700 - Cell Name: preadipocyte (CL0002334)
Fold Change: -0.0927
Cell Significance Index: -1.8100 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: -0.1027
Cell Significance Index: -2.8700 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.1037
Cell Significance Index: -29.8500 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: -0.1064
Cell Significance Index: -4.8300 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.1288
Cell Significance Index: -8.6600 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.1411
Cell Significance Index: -16.1700 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.1786
Cell Significance Index: -25.9700 - Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: -0.1821
Cell Significance Index: -1.9800 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.2236
Cell Significance Index: -11.7400 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.2443
Cell Significance Index: -15.4000 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: -0.2509
Cell Significance Index: -19.2500 - Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: -0.2602
Cell Significance Index: -4.8100 - Cell Name: vascular lymphangioblast (CL0005022)
Fold Change: -0.3274
Cell Significance Index: -5.7900 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.3329
Cell Significance Index: -18.6800 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.3459
Cell Significance Index: -36.0200 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -0.3497
Cell Significance Index: -9.3600 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.3564
Cell Significance Index: -8.9100 - Cell Name: pro-T cell (CL0000827)
Fold Change: -0.3762
Cell Significance Index: -9.6100 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: -0.4002
Cell Significance Index: -5.4600 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: -0.4016
Cell Significance Index: -8.7000 - Cell Name: paneth cell of colon (CL0009009)
Fold Change: -0.4235
Cell Significance Index: -6.3500 - Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: -0.4475
Cell Significance Index: -22.6200 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.4505
Cell Significance Index: -27.6200 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.4524
Cell Significance Index: -35.8300 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.5166
Cell Significance Index: -31.7500 - Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.5743
Cell Significance Index: -16.9200 - Cell Name: neuron associated cell (CL0000095)
Fold Change: -0.5772
Cell Significance Index: -23.6500 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.5898
Cell Significance Index: -26.0900 - Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
Fold Change: -0.6203
Cell Significance Index: -3.8200 - Cell Name: interstitial cell of ovary (CL0002094)
Fold Change: -0.6212
Cell Significance Index: -7.9600 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.6958
Cell Significance Index: -26.3500
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: 1784579720
Symbol: PIGT_HUMAN
Name: GPI transamidase component PIG-T
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11483512
Title: PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8.
PubMed ID: 11483512
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16303743
Title: Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
PubMed ID: 16303743
PubMed ID: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
PubMed ID: 11780052
Title: The DNA sequence and comparative analysis of human chromosome 20.
PubMed ID: 11780052
DOI: 10.1038/414865a
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: 12975309
Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
PubMed ID: 12975309
DOI: 10.1101/gr.1293003
PubMed ID: 10810093
Title: Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.
PubMed ID: 10810093
DOI: 10.1101/gr.10.5.703
PubMed ID: 12582175
Title: Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T, form a functionally important intermolecular disulfide bridge.
PubMed ID: 12582175
PubMed ID: 19159218
Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
PubMed ID: 19159218
DOI: 10.1021/pr8008012
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 23733340
Title: A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.
PubMed ID: 23733340
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 34576938
Title: Functional analysis of the GPI transamidase complex by screening for amino acid mutations in each subunit.
PubMed ID: 34576938
PubMed ID: 23636107
Title: A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
PubMed ID: 23636107
PubMed ID: 24906948
Title: Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3.
PubMed ID: 24906948
PubMed ID: 25943031
Title: Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
PubMed ID: 25943031
PubMed ID: 27916860
Title: Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype.
PubMed ID: 27916860
DOI: 10.3390/genes7120108
PubMed ID: 28327575
Title: Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.
PubMed ID: 28327575
DOI: 10.1038/ejhg.2017.32
PubMed ID: 28728837
Title: Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations.
PubMed ID: 28728837
PubMed ID: 29868109
Title: Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3.
PubMed ID: 29868109
PubMed ID: 30976099
Title: PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.
PubMed ID: 30976099
PubMed ID: 30813157
Title: Case report of a child bearing a novel deleterious splicing variant in PIGT.
PubMed ID: 30813157
PubMed ID: 32404165
Title: Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families.
PubMed ID: 32404165
PubMed ID: 32725661
Title: Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.
PubMed ID: 32725661
DOI: 10.1111/cge.13822
PubMed ID: 32220244
Title: Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS).
PubMed ID: 32220244
PubMed ID: 34162574
Title: Compound Heterozygous PIGT Mutations in Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome: First Case in Korea and Characterization by Persistent Hypophosphatasia.
PubMed ID: 34162574
PubMed ID: 34046058
Title: Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.
PubMed ID: 34046058
PubMed ID: 36970549
Title: Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region.
PubMed ID: 36970549
Sequence Information:
- Length: 578
- Mass: 65700
- Checksum: AC7865160CFBCBBA
- Sequence:
MAAAMPLALL VLLLLGPGGW CLAEPPRDSL REELVITPLP SGDVAATFQF RTRWDSELQR EGVSHYRLFP KALGQLISKY SLRELHLSFT QGFWRTRYWG PPFLQAPSGA ELWVWFQDTV TDVDKSWKEL SNVLSGIFCA SLNFIDSTNT VTPTASFKPL GLANDTDHYF LRYAVLPREV VCTENLTPWK KLLPCSSKAG LSVLLKADRL FHTSYHSQAV HIRPVCRNAR CTSISWELRQ TLSVVFDAFI TGQGKKDWSL FRMFSRTLTE PCPLASESRV YVDITTYNQD NETLEVHPPP TTTYQDVILG TRKTYAIYDL LDTAMINNSR NLNIQLKWKR PPENEAPPVP FLHAQRYVSG YGLQKGELST LLYNTHPYRA FPVLLLDTVP WYLRLYVHTL TITSKGKENK PSYIHYQPAQ DRLQPHLLEM LIQLPANSVT KVSIQFERAL LKWTEYTPDP NHGFYVSPSV LSALVPSMVA AKPVDWEESP LFNSLFPVSD GSNYFVRLYT EPLLVNLPTP DFSMPYNVIC LTCTVVAVCY GSFYNLLTRT FHIEEPRTGG LAKRLANLIR RARGVPPL
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.