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: keratocyte (CL0002363)
Fold Change: 5.9200
Cell Significance Index: 93.9200 - Cell Name: hematopoietic stem cell (CL0000037)
Fold Change: 3.7920
Cell Significance Index: 64.8200 - Cell Name: precursor B cell (CL0000817)
Fold Change: 1.7230
Cell Significance Index: 22.3000 - Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
Fold Change: 1.1006
Cell Significance Index: 26.6600 - Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: 0.9042
Cell Significance Index: 9.8300 - Cell Name: sensory neuron (CL0000101)
Fold Change: 0.8814
Cell Significance Index: 5.0100 - Cell Name: retinal blood vessel endothelial cell (CL0002585)
Fold Change: 0.6711
Cell Significance Index: 8.6700 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: 0.4054
Cell Significance Index: 10.4200 - Cell Name: thymocyte (CL0000893)
Fold Change: 0.3395
Cell Significance Index: 4.2900 - Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: 0.1802
Cell Significance Index: 9.1100 - Cell Name: type II muscle cell (CL0002212)
Fold Change: 0.0787
Cell Significance Index: 1.2700 - Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: 0.0489
Cell Significance Index: 0.5100 - Cell Name: type I muscle cell (CL0002211)
Fold Change: 0.0484
Cell Significance Index: 1.1800 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.0214
Cell Significance Index: 40.3200 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.0132
Cell Significance Index: 2.6400 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: -0.0038
Cell Significance Index: -2.6500 - Cell Name: slow muscle cell (CL0000189)
Fold Change: -0.0047
Cell Significance Index: -0.0700 - Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0049
Cell Significance Index: -8.9900 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0059
Cell Significance Index: -9.0600 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0069
Cell Significance Index: -4.3800 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0069
Cell Significance Index: -9.4200 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: -0.0078
Cell Significance Index: -3.4400 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0098
Cell Significance Index: -7.2700 - Cell Name: helper T cell (CL0000912)
Fold Change: -0.0113
Cell Significance Index: -0.1600 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0133
Cell Significance Index: -6.0300 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0137
Cell Significance Index: -8.5700 - Cell Name: odontoblast (CL0000060)
Fold Change: -0.0137
Cell Significance Index: -1.7600 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0143
Cell Significance Index: -8.0900 - Cell Name: neoplastic cell (CL0001063)
Fold Change: -0.0154
Cell Significance Index: -3.0600 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: -0.0170
Cell Significance Index: -6.0900 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0214
Cell Significance Index: -3.6500 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.0255
Cell Significance Index: -2.6600 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0266
Cell Significance Index: -7.6500 - Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
Fold Change: -0.0284
Cell Significance Index: -0.3900 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0345
Cell Significance Index: -5.0200 - Cell Name: melanocyte (CL0000148)
Fold Change: -0.0384
Cell Significance Index: -0.3600 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0405
Cell Significance Index: -8.5400 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: -0.0417
Cell Significance Index: -7.5200 - Cell Name: cerebellar granule cell (CL0001031)
Fold Change: -0.0446
Cell Significance Index: -0.7700 - Cell Name: preadipocyte (CL0002334)
Fold Change: -0.0446
Cell Significance Index: -0.8700 - Cell Name: fast muscle cell (CL0000190)
Fold Change: -0.0504
Cell Significance Index: -0.6600 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.0504
Cell Significance Index: -2.3500 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: -0.0633
Cell Significance Index: -7.7800 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.0635
Cell Significance Index: -4.4900 - Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
Fold Change: -0.0686
Cell Significance Index: -1.7100 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0715
Cell Significance Index: -8.2000 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0767
Cell Significance Index: -7.8300 - Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: -0.0880
Cell Significance Index: -1.2600 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.1060
Cell Significance Index: -7.9000 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.1144
Cell Significance Index: -7.2100 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: -0.1170
Cell Significance Index: -2.4500 - Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
Fold Change: -0.1234
Cell Significance Index: -1.2800 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.1269
Cell Significance Index: -8.5300 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: -0.1337
Cell Significance Index: -10.2600 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.1438
Cell Significance Index: -8.8400 - Cell Name: neuron associated cell (CL0000095)
Fold Change: -0.1449
Cell Significance Index: -5.9400 - Cell Name: periportal region hepatocyte (CL0019026)
Fold Change: -0.1457
Cell Significance Index: -2.1500 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: -0.1585
Cell Significance Index: -4.4300 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.1589
Cell Significance Index: -7.4700 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: -0.1723
Cell Significance Index: -7.8100 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.1738
Cell Significance Index: -9.7500 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.1790
Cell Significance Index: -6.2700 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.1881
Cell Significance Index: -8.3200 - Cell Name: peripheral nervous system neuron (CL2000032)
Fold Change: -0.1904
Cell Significance Index: -1.4800 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.1967
Cell Significance Index: -6.4400 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.1972
Cell Significance Index: -6.2800 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.2229
Cell Significance Index: -8.4400 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -0.2309
Cell Significance Index: -6.6200 - Cell Name: Purkinje cell (CL0000121)
Fold Change: -0.2393
Cell Significance Index: -5.2400 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: -0.2397
Cell Significance Index: -3.2700 - Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: -0.2492
Cell Significance Index: -2.5100 - Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: -0.2630
Cell Significance Index: -6.5600 - Cell Name: cerebellar granule cell precursor (CL0002362)
Fold Change: -0.2680
Cell Significance Index: -2.4800 - Cell Name: erythrocyte (CL0000232)
Fold Change: -0.2853
Cell Significance Index: -7.2700 - Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.2886
Cell Significance Index: -8.5000 - Cell Name: early T lineage precursor (CL0002425)
Fold Change: -0.2914
Cell Significance Index: -4.2300 - Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: -0.3014
Cell Significance Index: -8.6000 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: -0.3021
Cell Significance Index: -10.6200 - Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
Fold Change: -0.3038
Cell Significance Index: -3.3300 - Cell Name: skeletal muscle fibroblast (CL0011027)
Fold Change: -0.3040
Cell Significance Index: -2.0600 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.3063
Cell Significance Index: -8.1800 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: -0.3079
Cell Significance Index: -8.2500 - Cell Name: radial glial cell (CL0000681)
Fold Change: -0.3168
Cell Significance Index: -1.8800 - Cell Name: salivary gland cell (CL0009005)
Fold Change: -0.3334
Cell Significance Index: -4.1400 - Cell Name: differentiation-committed oligodendrocyte precursor (CL4023059)
Fold Change: -0.3346
Cell Significance Index: -3.9700 - Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: -0.3370
Cell Significance Index: -7.2800 - Cell Name: lens fiber cell (CL0011004)
Fold Change: -0.3412
Cell Significance Index: -10.7900 - Cell Name: granulosa cell (CL0000501)
Fold Change: -0.3503
Cell Significance Index: -9.2100 - Cell Name: keratinocyte (CL0000312)
Fold Change: -0.3523
Cell Significance Index: -8.8000 - Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -0.3562
Cell Significance Index: -7.5600 - Cell Name: VIP GABAergic cortical interneuron (CL4023016)
Fold Change: -0.3571
Cell Significance Index: -7.1700 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: -0.3610
Cell Significance Index: -10.4000 - Cell Name: myoepithelial cell (CL0000185)
Fold Change: -0.3632
Cell Significance Index: -4.1200 - Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
Fold Change: -0.3641
Cell Significance Index: -4.4000 - Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: -0.3686
Cell Significance Index: -7.5000 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.3784
Cell Significance Index: -9.4600 - Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: -0.3788
Cell Significance Index: -7.4900 - Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: -0.3847
Cell Significance Index: -8.0300 - Cell Name: cortical interneuron (CL0008031)
Fold Change: -0.3874
Cell Significance Index: -9.2900 - Cell Name: leptomeningeal cell (CL0000708)
Fold Change: -0.3892
Cell Significance Index: -8.3200
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: 2434767742
Symbol: PAX3_HUMAN
Name: Paired box protein Pax-3
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 14639621
Title: Expression of PAX 3 alternatively spliced transcripts and identification of two new isoforms in human tumors of neural crest origin.
PubMed ID: 14639621
DOI: 10.1002/ijc.11527
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15815621
Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
PubMed ID: 15815621
DOI: 10.1038/nature03466
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: 7782066
Title: Genomic organization of the human PAX3 gene: DNA sequence analysis of the region disrupted in alveolar rhabdomyosarcoma.
PubMed ID: 7782066
PubMed ID: 2501086
Title: Conservation of the paired domain in metazoans and its structure in three isolated human genes.
PubMed ID: 2501086
PubMed ID: 7981674
Title: PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.
PubMed ID: 7981674
DOI: 10.1093/hmg/3.7.1069
PubMed ID: 7545913
Title: Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues.
PubMed ID: 7545913
DOI: 10.1007/bf00212021
PubMed ID: 15313887
Title: Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1.
PubMed ID: 15313887
PubMed ID: 1347148
Title: Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.
PubMed ID: 1347148
DOI: 10.1038/355635a0
PubMed ID: 8275086
Title: Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma.
PubMed ID: 8275086
DOI: 10.1038/ng1193-230
PubMed ID: 10393185
Title: The Pax3-FKHR oncoprotein is unresponsive to the Pax3-associated repressor hDaxx.
PubMed ID: 10393185
PubMed ID: 1303193
Title: A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family.
PubMed ID: 1303193
DOI: 10.1093/hmg/1.4.243
PubMed ID: 16951170
Title: Functional analysis of alternative isoforms of the transcription factor PAX3 in melanocytes in vitro.
PubMed ID: 16951170
PubMed ID: 21440083
Title: Identification of serines 201 and 209 as sites of Pax3 phosphorylation and the altered phosphorylation status of Pax3-FOXO1 during early myogenic differentiation.
PubMed ID: 21440083
PubMed ID: 21965087
Title: Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.
PubMed ID: 21965087
PubMed ID: 19199574
Title: Structural basis for DNA recognition by the human PAX3 homeodomain.
PubMed ID: 19199574
DOI: 10.1021/bi802052y
PubMed ID: 1347149
Title: An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome.
PubMed ID: 1347149
DOI: 10.1038/355637a0
PubMed ID: 8490648
Title: Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.
PubMed ID: 8490648
DOI: 10.1038/ng0193-26
PubMed ID: 8447316
Title: Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).
PubMed ID: 8447316
PubMed ID: 7833953
Title: A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1).
PubMed ID: 7833953
PubMed ID: 7825605
Title: Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families.
PubMed ID: 7825605
PubMed ID: 7726174
Title: Homozygosity for Waardenburg syndrome.
PubMed ID: 7726174
PubMed ID: 8533800
Title: Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.
PubMed ID: 8533800
PubMed ID: 8589691
Title: The mutational spectrum in Waardenburg syndrome.
PubMed ID: 8589691
PubMed ID: 8845842
Title: Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?
PubMed ID: 8845842
DOI: 10.1093/hmg/5.4.497
PubMed ID: 8664898
Title: Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.
PubMed ID: 8664898
DOI: 10.1002/(sici)1098-1004(1996)7:1<30::aid-humu4>3.0.co;2-t
PubMed ID: 8863157
Title: PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.
PubMed ID: 8863157
DOI: 10.1136/jmg.33.8.655
PubMed ID: 9067759
Title: Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.
PubMed ID: 9067759
DOI: 10.1002/(sici)1098-1004(1997)9:2<177::aid-humu11>3.0.co;2-#
PubMed ID: 9452070
Title: Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X).
PubMed ID: 9452070
PubMed ID: 9541113
Title: Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.
PubMed ID: 9541113
DOI: 10.1136/jmg.35.3.248
PubMed ID: 9584079
Title: A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg syndrome type 2.
PubMed ID: 9584079
PubMed ID: 10779847
Title: Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg syndrome type I.
PubMed ID: 10779847
PubMed ID: 12949970
Title: Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.
PubMed ID: 12949970
DOI: 10.1002/ajmg.a.20260
PubMed ID: 16971891
Title: A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome.
PubMed ID: 16971891
PubMed ID: 20478267
Title: Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
PubMed ID: 20478267
Sequence Information:
- Length: 479
- Mass: 52968
- Checksum: 8AFCA674E3ACB4FE
- Sequence:
MTTLAGAVPR MMRPGPGQNY PRSGFPLEVS TPLGQGRVNQ LGGVFINGRP LPNHIRHKIV EMAHHGIRPC VISRQLRVSH GCVSKILCRY QETGSIRPGA IGGSKPKQVT TPDVEKKIEE YKRENPGMFS WEIRDKLLKD AVCDRNTVPS VSSISRILRS KFGKGEEEEA DLERKEAEES EKKAKHSIDG ILSERASAPQ SDEGSDIDSE PDLPLKRKQR RSRTTFTAEQ LEELERAFER THYPDIYTRE ELAQRAKLTE ARVQVWFSNR RARWRKQAGA NQLMAFNHLI PGGFPPTAMP TLPTYQLSET SYQPTSIPQA VSDPSSTVHR PQPLPPSTVH QSTIPSNPDS SSAYCLPSTR HGFSSYTDSF VPPSGPSNPM NPTIGNGLSP QVMGLLTNHG GVPHQPQTDY ALSPLTGGLE PTTTVSASCS QRLDHMKSLD SLPTSQSYCP PTYSTTGYSM DPVTGYQYGQ YGQSKPWTF
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.