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PAX3 (paired box gene 3 (Waardenburg syndrome 1))

Written2006-07Eun Hyun Ahn, Frederic G. Barr
University of Pennsylvania, School of Medicine,Dept of Pathology, Laboratory Medicine, 506 Stellar-chance Laboratories, 422 Curie Boulevard, Philadelphia, PA 19104, USA

(Note : for Links provided by Atlas : click)


HGNC (Hugo) PAX3
HGNC Alias symbHUP2
HGNC Previous nameWS1
HGNC Previous nameWaardenburg syndrome 1
 paired box gene 3 (Waardenburg syndrome 1)
LocusID (NCBI) 5077
Atlas_Id 70
Location 2q36.1  [Link to chromosome band 2q36]
Location_base_pair Starts at 222199887 and ends at 222298998 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping PAX3.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
FOXO1 (13q14.11)::PAX3 (2q36.1)NCOA1 (2p23.3)::PAX3 (2q36.1)PAX3 (2q36.1)::FOXO1 (13q14.11)
PAX3 (2q36.1)::FOXO4 (Xq13.1)PAX3 (2q36.1)::MAML3 (4q31.1)PAX3 (2q36.1)::MMP16 (8q21.3)
PAX3 (2q36.1)::NCOA1 (2p23.3)PAX3 (2q36.1)::NCOA2 (8q13.3)PAX3 (2q36.1)::PAX3 (2q36.1)
PPHLN1 (12q12)::PAX3 (2q36.1)


Description The PAX3 gene extends approximately 100 kb and consists of 10 exons.
Transcription In human tissues and tumors, seven alternatively spliced transcripts have been described. The abundant transcripts, which have been studied in neural-related tumor specimens and cell lines, appear to consist of the first eight or nine exons (PAX3c and PAX3d). In addition, there is also frequent alternative splicing at the 5' end of exon 3 in human tissues and tumors that results in inclusion or exclusion of a single codon encoding a glutamine residue.


Description 479 amino acids, 53.0 kDa (8 exon form, PAX3c) or 484 amino acids, 53.5 kDa (9 exon form, PAX3d). The isoform containing the variable glutamine residue at the exon 3/4 junction is referred to as Q+, while the isoform lacking the Q is designated as Q-.
Expression Based on experiments in the mouse, Pax3 is expressed in the spinal cord and selected regions of the brain. Pax3 is expressed in the neural crest and is involved in development of neural crest derivatives including spinal ganglia, melanocytes and Schwann cells. Pax3 expression is also detected in somite compartments that give rise to embryonic skeletal muscle progenitors, and in cells that give rise to skeletal muscle compartments of the developing limb buds. In addition, Pax3 (as well as Pax7 ) is also expressed in a proliferating population without skeletal muscle specific markers that reside within limb and trunk muscles throughout later development; and a subset of adult muscles subsequently contain Pax3-expressing satellite cells.
Localisation Nucleus.
Function PAX3 is a transcription factor characterized by three highly converved motifs in the N-terminal region: a paired box DNA binding domain, an intervening octapeptide of unclear function, and a homeobox DNA binding domain. The C-terminal region contains a proline-, serine- and threonine-rich transactivation domain.
Based on the studies of the mutant Pax3 alleles in the mouse (Splotch phenotype) as well as studies of patients with mutant PAX3 genes (see below), Pax3 is postulated to have a crucial role in the development of the early neural structures, derivatives of the neural crest, and skeletal musculature. In these developmental processes, there is evidence that the transcriptional function of Pax3 impacts at four biological activities:
1. proliferation
2. apoptosis
3. differentiation
4. motility
Homology PAX3 shares homology through the conserved paired box with eight other members of the PAX gene family. In particular, within the PAX gene family, PAX3 and PAX7 constitute a subfamily characterized by a paired box, intervening octapeptide and complete homeobox as well as homology between the C-terminal transcriptional activation domains.


Germinal Germ-line sequence changes involving the PAX3 gene are found in Waardenburg syndrome type I and type III, a non-neoplastic autosomal dominant disorder characterized by hearing loss and pigmentary abnormalities. The majority of these alterations are nucleotide substitutions resulting in missense mutations, usually in the regions encoding the paired box or homeobox. A smaller number of base substitutions at splicing sites and small deletions and insertions, which usually alter the reading frame, have also been reported. Finally, there have also been several cases of large deletions and other rearrangements of chromosome 2.
Somatic The PAX3 gene is rearranged by the characteristic and recurrent acquired chromosomal translocation - t(2;13)(q35;q14) - in the myogenic soft tissue cancer alveolar rhabdomyosarcoma. As a result of this 2;13 translocation, portions of the PAX3 gene are juxtaposed with portions of the FKHR (also called FOXO1A) gene on chromosome 13. In particular, the 5' region of PAX3 including the first seven exons is joined to the 3' region of FKHR including its last two exons. Though the reciprocal chimeric gene is also generated, this PAX3-FKHR chimeric gene is more consistent and highly expressed, and results in expression of a fusion protein consisting of the intact PAX3 N-terminal DNA binding domain fused in-framed to the intact FKHR C-terminal transcriptional activation domain. This fusion protein functions as an aberrant transcription factor. In rare cases of alveolar rhabdomyosarcoma, PAX3 is fused to alternative C-terminal partners - MLLT7 (AFX, FOXO4) and

Implicated in

Entity Alveolar Rhabdomyosarcoma (ARMS)
Disease ARMS is one subtype of a family of pediatric soft tissue tumors that is related to the skeletal muscle lineage. In contrast to the embryonal rhabdomyosarcoma (ERMS), the other major subtype in this family, ARMS often occurs in adolescents and young adults, with primary tumors located in the vicinity of skeletal muscle, such as in the extremities and trunk.
Prognosis In contrast to the favorable outcome in most cases of ERMS, ARMS is associated with an unfavorable prognosis. In the IRS-IV clinical trial, the three year failure-free survival rate was 66% for patients presenting without metastatic disease and 16% for patients presenting with metastatic disease (compared to 83% and 37% for non-metastatic and metastatic ERMS, respectively). This unfavorable prognosis in ARMS is related to the propensity for early and wide dissemination, often involving bone marrow, and to poor response to chemotherapy.
Cytogenetics Chromosomal studies identified nonrandom chromosomal translocations that distinguish the majority of ARMS tumors from ERMS and other pediatric solid tumors. The translocation is the most prevalent and the is identified in a smaller subset of cases.
Hybrid/Mutated Gene The 2;13 or 1;13 chromosome translocation juxtapose the PAX3 gene on chromosome 2 or the PAX7 gene on chromosome 1 with the FKHR (FOXO1A) gene on chromosome 13 to generate two chimeric genes. These chimeric genes are transcribed to generate chimeric transcripts, of which the PAX3-FKHR and PAX7-FKHR transcripts are the most highly and consistently expressed of the pair of potential products. Based on RT-PCR assays for these chimeric transcripts, approximately 60% of ARMS cases express PAX3-FKHR and thus contain the t(2;13), 20% express PAX7-FKHR and thus contain the t(1;13), and 20% are fusion-negative.
a) Diagram of t(2;13)(q35;q14) and t(1;13)(p36;q14) chromosomal translocations generating PAX3-FKHR and PAX7-FKHR fusions

b) Generation of chimeric genes by the t(2;13)(q35;q14) translocation in ARMS. The exons of the wild-type and fusion genes are shown as boxes above each map and the translocation breakpoint distributions are shown as line segments below the map of the wild-type genes.

c) Comparison of wild-type and fusion products associated with the 2;13 and 1;13 translocations. The paired box, octapeptide, homeobox and fork head domain are indicated as open boxes, and transcriptional domains (DNA binding domain, DBD; transcriptional activiation domain, TAD; transcriptional inhibitory domain, TID) are shown as solid bars. The sites phosphorylated by Akt are indicated by stars, and the alternative splice in the paired box is shown by an arrowhead. The vertical dash line indicates the translocation fusion point. {Reproduced from: Barr (2001) Oncogene 20: 5736- 5746}

Oncogenesis The PAX3-FKHR and PAX7-FKHR chimeric genes encode fusion proteins that contain the intact DNA binding domain of PAX3 or PAX7 in the N-terminal region fused in frame with a C-terminal FKHR (FOXO1A) segment containing the transactivation domain. The chromosomal changes in ARMS result in high level expression, potent transcriptional activity, and constitutive nuclear localization of the PAX3-FKHR or PAX7-FKHR fusion products. The end result is exaggerated activity at multiple biological levels that converges to inappropriate activation of PAX3/PAX7 target genes and ultimately contributes to tumourigenic behavior.
Disease Waardenburg syndrome (WS) is an inherited autosomal-dominant disorder characterized by sensorineural hearing loss (of varying severity), dystopia canthorum (lateral displacement of inner corners of eye), and pigmentary disturbances of the eye, skin and hair. It is a common cause of inherited deafness in infants. Depending on additional symptoms, WS is classified into four types, WS1, WS2, WS3, and WS4, with only WS1 and WS3 being associated with PAX3 mutations. Deletions, insertion, base pair substitution, or dominant point mutations of PAX3 cause WS1 and WS3. WS3 (Klein-Waardenburg syndrome) is similar to WS1 but WS3 is also characterized by musculoskeletal abnormalities, usually involving the upper limbs. It should be noted that WS3 is often associated with deletions of the long arm of chromosome 2 involving multiples genes including PAX3 whereas WS1 is generally is associated with mutations within the PAX3 gene. WS2 is heterogenous, being caused by mutations in the MITF gene in some but not all affected families. WS4 is caused by mutations in the EDN3, EDNRB, or SOX10 ID genes.
Entity Craniofacial-deafness-hand syndrome (CDHS)
Disease Craniofacial-deafness-hand syndrome is inherited as an autosomal dominant mutation. CDHS shows clinical characteristics of the absence or hypoplasia of the nasal bones, profound sensorineural deafness, a small and short nose with slitlike nares, hypertelorism, short palpebral fissures, and limited movement at the wrist and ulnar deviations of the fingers. A missense mutation (Asn47Lys) in the paired domain (exon 2) of PAX3 was detected in a family of three (a mother and two children) first reported with this syndrome.




Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.
Asher JH Jr, Sommer A, Morell R, Friedman TB
Human mutation. 1996 ; 7 (1) : 30-35.
PMID 8664898
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome.
Baldwin CT, Hoth CF, Amos JA, da-Silva EO, Milunsky A
Nature. 1992 ; 355 (6361) : 637-638.
PMID 1347149
PAX3 gene structure, alternative splicing and evolution.
Barber TD, Barber MC, Cloutier TE, Friedman TB
Gene. 1999 ; 237 (2) : 311-319.
PMID 10521655
Gene fusions involving PAX and FOX family members in alveolar rhabdomyosarcoma.
Barr FG
Oncogene. 2001 ; 20 (40) : 5736-5746.
PMID 11607823
Predominant expression of alternative PAX3 and PAX7 forms in myogenic and neural tumor cell lines.
Barr FG, Fitzgerald JC, Ginsberg JP, Vanella ML, Davis RJ, Bennicelli JL
Cancer research. 1999 ; 59 (21) : 5443-5448.
PMID 10554014
Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma.
Barr FG, Galili N, Holick J, Biegel JA, Rovera G, Emanuel BS
Nature genetics. 1993 ; 3 (2) : 113-117.
PMID 8098985
Genetic heterogeneity in the alveolar rhabdomyosarcoma subset without typical gene fusions.
Barr FG, Qualman SJ, Macris MH, Melnyk N, Lawlor ER, Strzelecki DM, Triche TJ, Bridge JA, Sorensen PH
Cancer research. 2002 ; 62 (16) : 4704-4710.
PMID 12183429
PAX3 and PAX7 exhibit conserved cis-acting transcription repression domains and utilize a common gain of function mechanism in alveolar rhabdomyosarcoma.
Bennicelli JL, Advani S, Schäfer BW, Barr FG
Oncogene. 1999 ; 18 (30) : 4348-4356.
PMID 10439042
Induction of apoptosis in rhabdomyosarcoma cells through down-regulation of PAX proteins.
Bernasconi M, Remppis A, Fredericks WJ, Rauscher FJ 3rd, Schäfer BW
Proceedings of the National Academy of Sciences of the United States of America. 1996 ; 93 (23) : 13164-13169.
PMID 8917562
Pax-3 is required for the development of limb muscles: a possible role for the migration of dermomyotomal muscle progenitor cells.
Bober E, Franz T, Arnold HH, Gruss P, Tremblay P
Development (Cambridge, England). 1994 ; 120 (3) : 603-612.
PMID 8162858
Prognostic factors and clinical outcomes in children and adolescents with metastatic rhabdomyosarcoma--a report from the Intergroup Rhabdomyosarcoma Study IV.
Breneman JC, Lyden E, Pappo AS, Link MP, Anderson JR, Parham DM, Qualman SJ, Wharam MD, Donaldson SS, Maurer HM, Meyer WH, Baker KS, Paidas CN, Crist WM
Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2003 ; 21 (1) : 78-84.
PMID 12506174
Intergroup rhabdomyosarcoma study-IV: results for patients with nonmetastatic disease.
Crist WM, Anderson JR, Meza JL, Fryer C, Raney RB, Ruymann FB, Breneman J, Qualman SJ, Wiener E, Wharam M, Lobe T, Webber B, Maurer HM, Donaldson SS
Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2001 ; 19 (12) : 3091-3102.
PMID 11408506
Fusion genes resulting from alternative chromosomal translocations are overexpressed by gene-specific mechanisms in alveolar rhabdomyosarcoma.
Davis RJ, Barr FG
Proceedings of the National Academy of Sciences of the United States of America. 1997 ; 94 (15) : 8047-8051.
PMID 9223312
Co-expression of alternatively spliced forms of PAX3, PAX7, PAX3-FKHR and PAX7-FKHR with distinct DNA binding and transactivation properties in rhabdomyosarcoma.
Du S, Lawrence EJ, Strzelecki D, Rajput P, Xia SJ, Gottesman DM, Barr FG
International journal of cancer. Journal international du cancer. 2005 ; 115 (1) : 85-92.
PMID 15688409
Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma.
Galili N, Davis RJ, Fredericks WJ, Mukhopadhyay S, Rauscher FJ 3rd, Emanuel BS, Rovera G, Barr FG
Nature genetics. 1993 ; 5 (3) : 230-235.
PMID 8275086
Pax-3, a novel murine DNA binding protein expressed during early neurogenesis.
Goulding MD, Chalepakis G, Deutsch U, Erselius JR, Gruss P
The EMBO journal. 1991 ; 10 (5) : 1135-1147.
PMID 2022185
Pax3: a paired domain gene as a regulator in PNS myelination.
Kioussi C, Gross MK, Gruss P
Neuron. 1995 ; 15 (3) : 553-562.
PMID 7546735
The oncogenic potential of the Pax3-FKHR fusion protein requires the Pax3 homeodomain recognition helix but not the Pax3 paired-box DNA binding domain.
Lam PY, Sublett JE, Hollenbach AD, Roussel MF
Molecular and cellular biology. 1999 ; 19 (1) : 594-601.
PMID 9858583
Pax3 functions at a nodal point in melanocyte stem cell differentiation.
Lang D, Lu MM, Huang L, Engleka KA, Zhang M, Chu EY, Lipner S, Skoultchi A, Millar SE, Epstein JA
Nature. 2005 ; 433 (7028) : 884-887.
PMID 15729346
Expression of PAX 3 alternatively spliced transcripts and identification of two new isoforms in human tumors of neural crest origin.
Parker CJ, Shawcross SG, Li H, Wang QY, Herrington CS, Kumar S, MacKie RM, Prime W, Rennie IG, Sisley K, Kumar P
International journal of cancer. Journal international du cancer. 2004 ; 108 (2) : 314-320.
PMID 14639621
Waardenburg syndrome.
Read AP, Newton VE
Journal of medical genetics. 1997 ; 34 (8) : 656-665.
PMID 9279758
Pax3 and Pax7 have distinct and overlapping functions in adult muscle progenitor cells.
Relaix F, Montarras D, Zaffran S, Gayraud-Morel B, Rocancourt D, Tajbakhsh S, Mansouri A, Cumano A, Buckingham M
The Journal of cell biology. 2006 ; 172 (1) : 91-102.
PMID 16380438
A Pax3/Pax7-dependent population of skeletal muscle progenitor cells.
Relaix F, Rocancourt D, Mansouri A, Buckingham M
Nature. 2005 ; 435 (7044) : 948-953.
PMID 15843801
A PANorama of PAX genes in cancer and development.
Robson EJ, He SJ, Eccles MR
Nature reviews. Cancer. 2006 ; 6 (1) : 52-62.
PMID 16397527
Craniofacial-deafness-hand syndrome revisited.
Sommer A, Bartholomew DW
American journal of medical genetics. Part A. 2003 ; 123 (1) : 91-94.
PMID 14556253
Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness.
Sommer A, Young-Wee T, Frye T
American journal of medical genetics. 1983 ; 15 (1) : 71-77.
PMID 6859126
PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group.
Sorensen PH, Lynch JC, Qualman SJ, Tirabosco R, Lim JF, Maurer HM, Bridge JA, Crist WM, Triche TJ, Barr FG
Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2002 ; 20 (11) : 2672-2679.
PMID 12039929
The mutational spectrum in Waardenburg syndrome.
Tassabehji M, Newton VE, Liu XZ, Brady A, Donnai D, Krajewska-Walasek M, Murday V, Norman A, Obersztyn E, Reardon W
Human molecular genetics. 1995 ; 4 (11) : 2131-2137.
PMID 8589691
An alternative splicing event in the Pax-3 paired domain identifies the linker region as a key determinant of paired domain DNA-binding activity.
Vogan KJ, Underhill DA, Gros P
Molecular and cellular biology. 1996 ; 16 (12) : 6677-6686.
PMID 8943322
Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1.
Wachtel M, Dettling M, Koscielniak E, Stegmaier S, Treuner J, Simon-Klingenstein K, Bühlmann P, Niggli FK, Schäfer BW
Cancer research. 2004 ; 64 (16) : 5539-5545.
PMID 15313887


This paper should be referenced as such :
Ahn, EH ; Barr, FG
PAX3 (paired box gene 3 (Waardenburg syndrome 1))
Atlas Genet Cytogenet Oncol Haematol. 2006;10(4):253-256.
Free journal version : [ pdf ]   [ DOI ]

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(1;9)(p13;p12) PAX5::HIPK1
t(1;13)(p36;q14) PAX3::FOXO1
t(2;13)(q36;q14) PAX3::FOXO1
t(X;9)(q21;p13) PAX5::DACH2

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Waardenburg syndrome (WS)

External links


HGNC (Hugo)PAX3   8617
Entrez_Gene (NCBI)PAX3    paired box 3
AliasesCDHS; HUP2; WS1; WS3
GeneCards (Weizmann)PAX3
Ensembl hg19 (Hinxton)ENSG00000135903 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135903 [Gene_View]  ENSG00000135903 [Sequence]  chr2:222199887-222298998 [Contig_View]  PAX3 [Vega]
ICGC DataPortalENSG00000135903
TCGA cBioPortalPAX3
AceView (NCBI)PAX3
Genatlas (Paris)PAX3
SOURCE (Princeton)PAX3
Genetics Home Reference (NIH)PAX3
Genomic and cartography
GoldenPath hg38 (UCSC)PAX3  -     chr2:222199887-222298998 -  2q36.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PAX3  -     2q36.1   [Description]    (hg19-Feb_2009)
GoldenPathPAX3 - 2q36.1 [CytoView hg19]  PAX3 - 2q36.1 [CytoView hg38]
Genome Data Viewer NCBIPAX3 [Mapview hg19]  
OMIM122880   148820   193500   268220   606597   
Gene and transcription
Genbank (Entrez)AI382779 AI399816 AK291278 AY251279 AY251280
RefSeq transcript (Entrez)NM_000438 NM_001127366 NM_013942 NM_181457 NM_181458 NM_181459 NM_181460 NM_181461
Consensus coding sequences : CCDS (NCBI)PAX3
Gene ExpressionPAX3 [ NCBI-GEO ]   PAX3 [ EBI - ARRAY_EXPRESS ]   PAX3 [ SEEK ]   PAX3 [ MEM ]
Gene Expression Viewer (FireBrowse)PAX3 [ Firebrowse - Broad ]
GenevisibleExpression of PAX3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5077
GTEX Portal (Tissue expression)PAX3
Human Protein AtlasENSG00000135903-PAX3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP23760   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP23760  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP23760
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)    PAIRED_1 (PS00034)    PAIRED_2 (PS51057)   
Domains : Interpro (EBI)Homeobox-like_sf    Homeobox_CS    Homeobox_dom    PAIRED_DNA-bd_dom    Paired_dom    Pax7_C    PAX_fam    WH-like_DNA-bd_sf   
Domain families : Pfam (Sanger)Homeodomain (PF00046)    PAX (PF00292)    Pax7 (PF12360)   
Domain families : Pfam (NCBI)pfam00046    pfam00292    pfam12360   
Domain families : Smart (EMBL)HOX (SM00389)  PAX (SM00351)  
Conserved Domain (NCBI)PAX3
PDB Europe3CMY   
Structural Biology KnowledgeBase3CMY   
SCOP (Structural Classification of Proteins)3CMY   
CATH (Classification of proteins structures)3CMY   
AlphaFold pdb e-kbP23760   
Human Protein Atlas [tissue]ENSG00000135903-PAX3 [tissue]
Protein Interaction databases
IntAct (EBI)P23760
Ontologies - Pathways
Ontology : AmiGOchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity  protein binding  nucleoplasm  nucleoplasm  regulation of transcription by RNA polymerase II  apoptotic process  nervous system development  muscle organ development  sensory perception of sound  animal organ morphogenesis  sequence-specific DNA binding  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  anatomical structure development  HMG box domain binding  sequence-specific double-stranded DNA binding  
Ontology : EGO-EBIchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity  protein binding  nucleoplasm  nucleoplasm  regulation of transcription by RNA polymerase II  apoptotic process  nervous system development  muscle organ development  sensory perception of sound  animal organ morphogenesis  sequence-specific DNA binding  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  anatomical structure development  HMG box domain binding  sequence-specific double-stranded DNA binding  
Pathways : BIOCARTARegulation of transcriptional activity by PML [Genes]   
Pathways : KEGGTranscriptional misregulation in cancer   
REACTOMEP23760 [protein]
REACTOME PathwaysR-HSA-3214847 [pathway]   
NDEx NetworkPAX3
Atlas of Cancer Signalling NetworkPAX3
Wikipedia pathwaysPAX3
Orthology - Evolution
GeneTree (enSembl)ENSG00000135903
Phylogenetic Trees/Animal Genes : TreeFamPAX3
Homologs : HomoloGenePAX3
Homology/Alignments : Family Browser (UCSC)PAX3
Gene fusions - Rearrangements
Fusion : MitelmanPAX3::FOXO1 [2q36.1/13q14.11]  
Fusion : MitelmanPAX3::FOXO4 [2q36.1/Xq13.1]  
Fusion : MitelmanPAX3::MAML3 [2q36.1/4q31.1]  
Fusion : MitelmanPAX3::NCOA1 [2q36.1/2p23.3]  
Fusion : MitelmanPAX3::NCOA2 [2q36.1/8q13.3]  
Fusion : COSMICPAX3 [2q36.1]  -  NCOA2 [8q13.3]  [fusion_1040]  
Fusion : QuiverPAX3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPAX3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PAX3
Exome Variant ServerPAX3
GNOMAD BrowserENSG00000135903
Varsome BrowserPAX3
ACMGPAX3 variants
Genomic Variants (DGV)PAX3 [DGVbeta]
DECIPHERPAX3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPAX3 
ICGC Data PortalPAX3 
TCGA Data PortalPAX3 
Broad Tumor PortalPAX3
OASIS PortalPAX3 [ Somatic mutations - Copy number]
Cancer Gene: CensusPAX3 
Somatic Mutations in Cancer : COSMICPAX3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPAX3
Mutations and Diseases : HGMDPAX3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
DgiDB (Drug Gene Interaction Database)PAX3
DoCM (Curated mutations)PAX3
CIViC (Clinical Interpretations of Variants in Cancer)PAX3
NCG (London)PAX3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM122880    148820    193500    268220    606597   
Orphanet221    219    1695    14329   
Genetic Testing Registry PAX3
NextProtP23760 [Medical]
Target ValidationPAX3
Huge Navigator PAX3 [HugePedia]
ClinGenPAX3 (curated)
Clinical trials, drugs, therapy
Protein Interactions : CTDPAX3
Pharm GKB GenePA32957
Clinical trialPAX3
DataMed IndexPAX3
PubMed234 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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