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PAX5 (paired box gene 5)

Written2004-01Sabine Strehl
Children's Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria
Updated2005-08Sabine Strehl
Children's Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria

(Note : for Links provided by Atlas : click)

Identity

Alias_namespaired box gene 5 (B-cell lineage specific activator protein)
paired box gene 5 (B-cell lineage specific activator)
Alias_symbol (synonym)BSAP
Other aliasBSAP (B-cell lineage specific activator protein)
HGNC (Hugo) PAX5
LocusID (NCBI) 5079
Atlas_Id 62
Location 9p13.2  [Link to chromosome band 9p13]
Location_base_pair Starts at 36833275 and ends at 37034479 bp from pter ( according to hg19-Feb_2009)  [Mapping PAX5.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)
DBX1 (11p15.1) / PAX5 (9p13.2)ELN (7q11.23) / PAX5 (9p13.2)EMILIN2 (18p11.32) / PAX5 (9p13.2)
ETV6 (12p13.2) / PAX5 (9p13.2)FBRSL1 (12q24.33) / PAX5 (9p13.2)FOXP1 (3p13) / PAX5 (9p13.2)
JAK2 (9p24.1) / PAX5 (9p13.2)MBNL1 (3q25.1) / PAX5 (9p13.2)P2RY8 (Xp22.33) / PAX5 (9p13.2)
PAX5 (9p13.2) / ASXL1 (20q11.21)PAX5 (9p13.2) / AUTS2 (7q11.22)PAX5 (9p13.2) / BCOR (Xp11.4)
PAX5 (9p13.2) / BRD1 (22q13.33)PAX5 (9p13.2) / CBFA2T3 (16q24.3)PAX5 (9p13.2) / DACH1 (13q21.33)
PAX5 (9p13.2) / DACH2 (Xq21.2)PAX5 (9p13.2) / DMRTA2 (1p32.3)PAX5 (9p13.2) / ELN (7q11.23)
PAX5 (9p13.2) / ESRRB (14q24.3)PAX5 (9p13.2) / ETV6 (12p13.2)PAX5 (9p13.2) / FBRSL1 (12q24.33)
PAX5 (9p13.2) / FKBP15 (9q32)PAX5 (9p13.2) / FOXP1 (3p13)PAX5 (9p13.2) / GOLGA6A (15q24.1)
PAX5 (9p13.2) / GRM3 (7q21.11)PAX5 (9p13.2) / HIPK1 (1p13.2)PAX5 (9p13.2) / JAK2 (9p24.1)
PAX5 (9p13.2) / KANK1 (9p24.3)PAX5 (9p13.2) / KIF3B (20q11.21)PAX5 (9p13.2) / MBNL1 (3q25.1)
PAX5 (9p13.2) / MLLT3 (9p21.3)PAX5 (9p13.2) / NCOA5 (20q13.12)PAX5 (9p13.2) / NCOR1 (17p12)
PAX5 (9p13.2) / NOL4L (20q11.21)PAX5 (9p13.2) / P2RY8 (Xp22.33)PAX5 (9p13.2) / PAX5 (9p13.2)
PAX5 (9p13.2) / PML (15q24.1)PAX5 (9p13.2) / POM121 (7q11.23)PAX5 (9p13.2) / RHOXF2 (Xq24)
PAX5 (9p13.2) / RNF38 (9p13.2)PAX5 (9p13.2) / SLCO1B3 (12p12.2)PAX5 (9p13.2) / SP2 (17q21.32)
PAX5 (9p13.2) / TAF3 (10p14)PAX5 (9p13.2) / TAOK1 (17q11.2)PAX5 (9p13.2) / TMEM14B (6p24.2)
PAX5 (9p13.2) / TMEM9B (11p15.4)PAX5 (9p13.2) / ZCCHC7 (9p13.2)PAX5 (9p13.2) / ZNF276 (16q24.3)
PAX5 (9p13.2) / ZNF521 (18q11.2)PLAC1 (Xq26.3) / PAX5 (9p13.2)PML (15q24.1) / PAX5 (9p13.2)
SPATA48 (7p12.2) / PAX5 (9p13.2)STPG1 (1p36.11) / PAX5 (9p13.2)TMPRSS9 (19p13.3) / PAX5 (9p13.2)
ZCCHC7 (9p13.2) / PAX5 (9p13.2)ZNF521 (18q11.2) / PAX5 (9p13.2)

DNA/RNA

Description The PAX5 coding region extends over a genomic interval of approximately 200 kb and comprises 10 exons.
Transcription Two alternative transcripts have been identified, originating from alternative promotor usage, containing exon 1A or 1B; full length mRNA is 3650 bp; transcription is from centromere to telomere.

Protein

 
Description 391 amino acids, 42 kDa, PAX5 belongs to the paired box family of transcription factors, contains a paired box (DNA binding) domain, a truncated homeo domain homology region, and a transactivation domain.
Expression B lymphocytes, the developing CNS, and adult testis.
Localisation Nuclear.
Function Involved in a multitude of developmental processes, PAX5 expression is not only continuously required for B cell lineage commitment during early B cell development but also for B lineage maintenance, involved in the regulation of the CD19 gene, a B-lymphoid-specific target gene.

Implicated in

Note
  
Entity t(9;14)(p13;q23) lymphoproliferative disorders
Hybrid/Mutated Gene PAX5 - IGH juxtaposition
  
  
Entity dic(9;12)(p13;p13) acute lymphoblastic leukemia
Hybrid/Mutated Gene PAX5 - ETV6
  

Breakpoints

 

Bibliography

A novel B-cell lineage-specific transcription factor present at early but not late stages of differentiation.
Barberis A, Widenhorn K, Vitelli L, Busslinger M
Genes & development. 1990 ; 4 (5) : 849-859.
PMID 2116362
 
Transcriptional control of early B cell development.
Busslinger M
Annual review of immunology. 2004 ; 22 : 55-79.
PMID 15032574
 
The paired box domain gene PAX5 is fused to ETV6/TEL in an acute lymphoblastic leukemia case.
Cazzaniga G, Daniotti M, Tosi S, Giudici G, Aloisi A, Pogliani E, Kearney L, Biondi A
Cancer research. 2001 ; 61 (12) : 4666-4670.
PMID 11406533
 
Pax5 induces V-to-DJ rearrangements and locus contraction of the immunoglobulin heavy-chain gene.
Fuxa M, Skok J, Souabni A, Salvagiotto G, Roldan E, Busslinger M
Genes & development. 2004 ; 18 (4) : 411-422.
PMID 15004008
 
Expression of the PAX5/BSAP transcription factor in haematological tumour cells and further molecular characterization of the t(9;14)(p13;q32) translocation in B-cell non-Hodgkin's lymphoma.
Hamada T, Yonetani N, Ueda C, Maesako Y, Akasaka H, Akasaka T, Ohno H, Kawakami K, Amakawa R, Okuma M
British journal of haematology. 1998 ; 102 (3) : 691-700.
PMID 9722295
 
Pax5 is required for recombination of transcribed, acetylated, 5' IgH V gene segments.
Hesslein DG, Pflugh DL, Chowdhury D, Bothwell AL, Sen R, Schatz DG
Genes & development. 2003 ; 17 (1) : 37-42.
PMID 12514097
 
The t(9;14)(p13;q32) chromosomal translocation associated with lymphoplasmacytoid lymphoma involves the PAX-5 gene.
Iida S, Rao PH, Nallasivam P, Hibshoosh H, Butler M, Louie DC, Dyomin V, Ohno H, Chaganti RS, Dalla-Favera R
Blood. 1996 ; 88 (11) : 4110-4117.
PMID 8943844
 
Reversion of B cell commitment upon loss of Pax5 expression.
Mikkola I, Heavey B, Horcher M, Busslinger M
Science (New York, N.Y.). 2002 ; 297 (5578) : 110-113.
PMID 12098702
 
Commitment to the B-lymphoid lineage depends on the transcription factor Pax5.
Nutt SL, Heavey B, Rolink AG, Busslinger M
Nature. 1999 ; 401 (6753) : 556-562.
PMID 10524622
 
Essential functions of Pax5 (BSAP) in pro-B cell development: difference between fetal and adult B lymphopoiesis and reduced V-to-DJ recombination at the IgH locus.
Nutt SL, Urbanek P, Rolink A, Busslinger M
Genes & development. 1997 ; 11 (4) : 476-491.
PMID 9042861
 
t(9;14)(p13;q32) denotes a subset of low-grade non-Hodgkin's lymphoma with plasmacytoid differentiation.
Offit K, Parsa NZ, Filippa D, Jhanwar SC, Chaganti RS
Blood. 1992 ; 80 (10) : 2594-2599.
PMID 1384792
 
The t(9;14)(p13;q32) translocation in B-cell non-Hodgkin's lymphoma.
Ohno H, Ueda C, Akasaka T
Leukemia & lymphoma. 2000 ; 36 (5-6) : 435-445.
PMID 10784387
 
PAX5/IGH rearrangement is a recurrent finding in a subset of aggressive B-NHL with complex chromosomal rearrangements.
Poppe B, De Paepe P, Michaux L, Dastugue N, Bastard C, Herens C, Moreau E, Cavazzini F, Yigit N, Van Limbergen H, De Paepe A, Praet M, De Wolf-Peeters C, Wlodarska I, Speleman F
Genes, chromosomes & cancer. 2005 ; 44 (2) : 218-223.
PMID 15942942
 
Transcriptional control of B-cell development.
Schebesta M, Heavey B, Busslinger M
Current opinion in immunology. 2002 ; 14 (2) : 216-223.
PMID 11869895
 
Pax5 promotes B lymphopoiesis and blocks T cell development by repressing Notch1.
Souabni A, Cobaleda C, Schebesta M, Busslinger M
Immunity. 2002 ; 17 (6) : 781-793.
PMID 12479824
 
PAX5/ETV6 fusion defines cytogenetic entity dic(9;12)(p13;p13).
Strehl S, Konig M, Dworzak MN, Kalwak K, Haas OA
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2003 ; 17 (6) : 1121-1123.
PMID 12764378
 
PAX5 expression in acute leukemias: higher B-lineage specificity than CD79a and selective association with t(8;21)-acute myelogenous leukemia.
Tiacci E, Pileri S, Orleth A, Pacini R, Tabarrini A, Frenguelli F, Liso A, Diverio D, Lo-Coco F, Falini B
Cancer research. 2004 ; 64 (20) : 7399-7404.
PMID 15492262
 

Citation

This paper should be referenced as such :
Strehl, S
PAX5 (paired box gene 5)
Atlas Genet Cytogenet Oncol Haematol. 2005;9(4):313-314.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/PAX5ID62.html
History of this paper:
Strehl, S. PAX5 (paired box gene 5). Atlas Genet Cytogenet Oncol Haematol. 2004;8(2):61-62.
http://documents.irevues.inist.fr/bitstream/handle/2042/38062/01-2004-PAX5ID62.pdf


Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias del9pALLID1064 dic0309p14p13ID1553 dic0709p11p11ID1054 dic0709p11p12ID1554 dic0912ID1065
dic0912p13p12ID1555 dic0916p13q11ID1686 dic0917p13q11ID1598 dic0918p13q11ID1556 dic920ID1143
LymphoidLeukDownSyndromeID1784 t0109p13p12ID1557 t0209p24p13PAX5_KIDINS220ID1805 t0709q11p12ID1558 t0709q11p13ID1195
t0709q11p13ID1633 t0909p13p24ID1559 t0913p12q21ID1560 t0914p13q32ID2018 t0915p13q24ID1561
t0915p13q24ID1596 t0917p13p12ID1597 t0922p13q13ID1562 TL_dic0920p13q11ID2149 TL_dic0920p13q11ID2150
TL_dic0920p13q11ID2151 TL_dic0920p13q11ID3055 TL_dic0920p13q11ID3065 TL_dic0920p13q11ID3069 TL_t0109p32p13ID3058
TL_t0309q25p13ID2943 TL_t0309q25p13ID3066 TL_t0609p24p13ID3075 TL_t0709q21p13ID3062 TL_t0909p13p13ID3072
TL_t0909p13p13ID3076 TL_t0909p13p13ID3343 TL_t0909p13p21ID3067 TL_t0909p13p24ID3063 TL_t0909p13q32ID3061
TL_t0910p13p14ID3074 TL_t0911p13p14ID1775 TL_t0911p13p15ID2645 TL_t0912p13q24ID2724 TL_t0912p13q24ID3060
TL_t0914p13q24ID3059 TL_t0916p13q24ID3057 TL_t0916p13q24ID3077 TL_t0917p13q21ID3073 TL_t0918p13p11ID2679
TL_t0919p13p13ID3266 TL_t0920p13q13ID3068 TL_tX09p11p13ID3056 TL_tX09p22p13ID3048 TL_tX09p22p13ID3070
TL_tX09q24p13ID3071 tX09q21p13ID1595


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]

Solid Tumors TT_t0911p13p15ID108277


External links

Nomenclature
HGNC (Hugo)PAX5   8619
Cards
AtlasPAX5ID62
Entrez_Gene (NCBI)PAX5  5079  paired box 5
AliasesALL3; BSAP
GeneCards (Weizmann)PAX5
Ensembl hg19 (Hinxton)ENSG00000196092 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196092 [Gene_View]  ENSG00000196092 [Sequence]  chr9:36833275-37034479 [Contig_View]  PAX5 [Vega]
ICGC DataPortalENSG00000196092
TCGA cBioPortalPAX5
AceView (NCBI)PAX5
Genatlas (Paris)PAX5
WikiGenes5079
SOURCE (Princeton)PAX5
Genetics Home Reference (NIH)PAX5
Genomic and cartography
GoldenPath hg38 (UCSC)PAX5  -     chr9:36833275-37034479 -  9p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PAX5  -     9p13.2   [Description]    (hg19-Feb_2009)
GoldenPathPAX5 - 9p13.2 [CytoView hg19]  PAX5 - 9p13.2 [CytoView hg38]
ImmunoBaseENSG00000196092
Mapping of homologs : NCBIPAX5 [Mapview hg19]  PAX5 [Mapview hg38]
OMIM167414   615545   
Gene and transcription
Genbank (Entrez)AF080573 AY463952 AY463953 AY463954 AY463955
RefSeq transcript (Entrez)NM_001280547 NM_001280548 NM_001280549 NM_001280550 NM_001280551 NM_001280552 NM_001280553 NM_001280554 NM_001280555 NM_001280556 NM_016734
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PAX5
Cluster EST : UnigeneHs.654464 [ NCBI ]
CGAP (NCI)Hs.654464
Alternative Splicing GalleryENSG00000196092
Gene ExpressionPAX5 [ NCBI-GEO ]   PAX5 [ EBI - ARRAY_EXPRESS ]   PAX5 [ SEEK ]   PAX5 [ MEM ]
Gene Expression Viewer (FireBrowse)PAX5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5079
GTEX Portal (Tissue expression)PAX5
Human Protein AtlasENSG00000196092-PAX5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02548   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ02548  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ02548
Splice isoforms : SwissVarQ02548
PhosPhoSitePlusQ02548
Domaine pattern : Prosite (Expaxy)PAIRED_1 (PS00034)    PAIRED_2 (PS51057)   
Domains : Interpro (EBI)Homeobox-like_sf    Paired_dom    Pax2_C    WH-like_DNA-bd_sf   
Domain families : Pfam (Sanger)PAX (PF00292)    Pax2_C (PF12403)   
Domain families : Pfam (NCBI)pfam00292    pfam12403   
Domain families : Smart (EMBL)PAX (SM00351)  
Conserved Domain (NCBI)PAX5
DMDM Disease mutations5079
Blocks (Seattle)PAX5
PDB (RSDB)1K78    1MDM   
PDB Europe1K78    1MDM   
PDB (PDBSum)1K78    1MDM   
PDB (IMB)1K78    1MDM   
Structural Biology KnowledgeBase1K78    1MDM   
SCOP (Structural Classification of Proteins)1K78    1MDM   
CATH (Classification of proteins structures)1K78    1MDM   
SuperfamilyQ02548
Human Protein Atlas [tissue]ENSG00000196092-PAX5 [tissue]
Peptide AtlasQ02548
HPRD01334
IPIIPI00026209   IPI00815658   IPI00929199   IPI00554620   IPI00437171   IPI00973553   IPI00437172   IPI00437169   IPI00437168   IPI00929668   IPI00941332   IPI00985158   IPI00980894   IPI00977401   IPI00929705   IPI00929236   IPI00973580   
Protein Interaction databases
DIP (DOE-UCLA)Q02548
IntAct (EBI)Q02548
FunCoupENSG00000196092
BioGRIDPAX5
STRING (EMBL)PAX5
ZODIACPAX5
Ontologies - Pathways
QuickGOQ02548
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  RNA polymerase II proximal promoter 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, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  fibrillar center  protein binding  nucleoplasm  nucleoplasm  cytosol  transcription by RNA polymerase II  humoral immune response  multicellular organism development  spermatogenesis  aging  animal organ morphogenesis  lateral ventricle development  cerebral cortex development  adult behavior  skeletal muscle cell differentiation  intracellular membrane-bounded organelle  positive regulation of transcription by RNA polymerase II  embryonic cranial skeleton morphogenesis  regulation of B cell receptor signaling pathway  negative regulation of histone H3-K9 methylation  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  RNA polymerase II proximal promoter 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, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  fibrillar center  protein binding  nucleoplasm  nucleoplasm  cytosol  transcription by RNA polymerase II  humoral immune response  multicellular organism development  spermatogenesis  aging  animal organ morphogenesis  lateral ventricle development  cerebral cortex development  adult behavior  skeletal muscle cell differentiation  intracellular membrane-bounded organelle  positive regulation of transcription by RNA polymerase II  embryonic cranial skeleton morphogenesis  regulation of B cell receptor signaling pathway  negative regulation of histone H3-K9 methylation  
Pathways : KEGGTranscriptional misregulation in cancer   
REACTOMEQ02548 [protein]
REACTOME PathwaysR-HSA-8939245 [pathway]   
NDEx NetworkPAX5
Atlas of Cancer Signalling NetworkPAX5
Wikipedia pathwaysPAX5
Orthology - Evolution
OrthoDB5079
GeneTree (enSembl)ENSG00000196092
Phylogenetic Trees/Animal Genes : TreeFamPAX5
HOGENOMQ02548
Homologs : HomoloGenePAX5
Homology/Alignments : Family Browser (UCSC)PAX5
Gene fusions - Rearrangements
Fusion : MitelmanIGH/PAX5 [14q32.33/9p13.2]  [t(2;9;14)(p12;p13;q32)]  [t(9;14)(p13;q32)]  
Fusion : MitelmanPAX5/ASXL1 [9p13.2/20q11.21]  [dic(9;20)(p13;q11)]  
Fusion : MitelmanPAX5/AUTS2 [9p13.2/7q11.22]  [t(7;9)(q11;p13)]  
Fusion : MitelmanPAX5/BRD1 [9p13.2/22q13.33]  [t(9;22)(p13;q13)]  
Fusion : MitelmanPAX5/DACH1 [9p13.2/13q21.33]  [t(9;13)(p12;q21)]  
Fusion : MitelmanPAX5/DACH2 [9p13.2/Xq21.2]  [t(X;9)(q21;p13)]  
Fusion : MitelmanPAX5/ELN [9p13.2/7q11.23]  [t(7;9)(q11;p13)]  
Fusion : MitelmanPAX5/ETV6 [9p13.2/12p13.2]  [dic(9;12)(p13;p13)]  [t(9;12)(p13;p13)]  
Fusion : MitelmanPAX5/FOXP1 [9p13.2/3p13]  [t(3;9)(p13;p13)]  
Fusion : MitelmanPAX5/GOLGA6A [9p13.2/15q24.1]  [t(9;15)(p13;q24)]  
Fusion : MitelmanPAX5/HIPK1 [9p13.2/1p13.2]  [t(1;9)(p13;p12)]  
Fusion : MitelmanPAX5/JAK2 [9p13.2/9p24.1]  [del(9)(p13)]  [del(9)(p13p24)]  
[del(9)(p24)]  [inv(9)(p13p24)]  [t(9;9)(p13;p24)]  
Fusion : MitelmanPAX5/KIF3B [9p13.2/20q11.21]  [dic(9;20)(p13;q11)]  
Fusion : MitelmanPAX5/LOC392027 [9p13.2/-]  [dic(7;9)(p12;p13)]  
Fusion : MitelmanPAX5/NOL4L [9p13.2/20q11.21]  [dic(9;20)(p13;q11)]  
Fusion : MitelmanPAX5/PML [9p13.2/15q24.1]  [t(9;15)(p13;q22)]  
Fusion : MitelmanPAX5/POM121 [9p13.2/7q11.23]  [t(7;9)(q11;p12)]  
Fusion : MitelmanPAX5/SLCO1B3 [9p13.2/12p12.2]  [dic(9;12)(p13;p12)]  
Fusion : MitelmanPAX5/TAOK1 [9p13.2/17q11.2]  [t(9;17)(p13;q11)]  
Fusion : MitelmanPAX5/TMEM9B [9p13.2/11p15.4]  [t(9;11)(p13;p15)]  
Fusion : MitelmanPAX5/ZNF521 [9p13.2/18q11.2]  [t(9;18)(p13;q11)]  
Fusion : COSMICJAK2 [9p24.1]  -  PAX5 [9p13.2]  [fusion_1073]  [fusion_1074]  [fusion_1075]  [fusion_1076]  
Fusion : COSMICPAX5 [9p13.2]  -  JAK2 [9p24.1]  [fusion_1071]  [fusion_1072]  
Fusion PortalPAX5 9p13.2 TMEM9B 11p15.4 BRCA
Fusion : TICdbPAX5 [9p13.2]  -  AUTS2 [7q11.22]
Fusion : TICdbPAX5 [9p13.2]  -  BRD1 [22q13.33]
Fusion : TICdbPAX5 [9p13.2]  -  C20orf112 [20q11.21]
Fusion : TICdbPAX5 [9p13.2]  -  DACH1 [13q21.33]
Fusion : TICdbPAX5 [9p13.2]  -  ELN [7q11.23]
Fusion : TICdbPAX5 [9p13.2]  -  ETV6 [12p13.2]
Fusion : TICdbPAX5 [9p13.2]  -  FOXP1 [3p13]
Fusion : TICdbPAX5 [9p13.2]  -  HIPK1 [1p13.2]
Fusion : TICdbPAX5 [9p13.2]  -  JAK2 [9p24.1]
Fusion : TICdbPAX5 [9p13.2]  -  PML [15q24.1]
Fusion : TICdbPAX5 [9p13.2]  -  POM121 [7q11.23]
Fusion : TICdbPAX5 [9p13.2]  -  SLCO1B3 [12p12.2]
Fusion : TICdbPAX5 [9p13.2]  -  ZNF521 [18q11.2]
Fusion : FusionGDB12760    26073    26074    26075    26076    26077    26078    26079    27453    28447    31578    33749    9349   
Fusion : Fusion_HubABL1--PAX5    ASXL1--PAX5    AUTS2--PAX5    BCOR--PAX5    BRD1--PAX5    C20ORF112--PAX5    CBFA2T3--PAX5    CDC123--PAX5    CHFR--PAX5    CTSB--PAX5    DACH1--PAX5    DACH2--PAX5    DBX1--PAX5    DCAF10--PAX5    DMRTA2--PAX5   
ELN--PAX5    ESRRB--PAX5    ETV6--PAX5    FAM219A--PAX5    FBRSL1--PAX5    FGFR3--PAX5    FKBP15--PAX5    FOXP1--PAX5    GRM3--PAX5    HIPK1--PAX5    IGH@--PAX5    JAK2--PAX5    KIAA1549L--PAX5    KIDINS220--PAX5    KIF3B--PAX5   
MBNL1--PAX5    MLLT3--PAX5    NCOA5--PAX5    NOL4L--PAX5    P2RY8--PAX5    PAX5--ASXL1    PAX5--AUTS2    PAX5--B4GALT1    PAX5--BRD1    PAX5--C20ORF112    PAX5--CREB3L1    PAX5--DACH1    PAX5--ELN    PAX5--ESRRB    PAX5--ETV6   
PAX5--FOXP1    PAX5--HIPK1    PAX5--JAK2    PAX5--KANK1    PAX5--KIAA1549L    PAX5--KIF3B    PAX5--LOC392027    PAX5--MLLT3    PAX5--PAX5    PAX5--PML    PAX5--POM121    PAX5--PUM1    PAX5--RHOBTB3    PAX5--RHOXF2    PAX5--RNF38   
PAX5--SLCO1B3    PAX5--SP2    PAX5--TAF3    PAX5--TEL    PAX5--TMEM14B    PAX5--TMEM9B    PAX5--TMPRSS9    PAX5--ZCCHC7    PAX5--ZNF276    PAX5--ZNF521    PLAC1--PAX5    PML--PAX5    PPP2R4--PAX5    SHB--PAX5    TEL--PAX5   
Fusion : QuiverPAX5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPAX5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PAX5
dbVarPAX5
ClinVarPAX5
1000_GenomesPAX5 
Exome Variant ServerPAX5
ExAC (Exome Aggregation Consortium)ENSG00000196092
GNOMAD BrowserENSG00000196092
Varsome BrowserPAX5
Genetic variants : HAPMAP5079
Genomic Variants (DGV)PAX5 [DGVbeta]
DECIPHERPAX5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPAX5 
Mutations
ICGC Data PortalPAX5 
TCGA Data PortalPAX5 
Broad Tumor PortalPAX5
OASIS PortalPAX5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPAX5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPAX5
Mutations and Diseases : HGMDPAX5
intOGen PortalPAX5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PAX5
DgiDB (Drug Gene Interaction Database)PAX5
DoCM (Curated mutations)PAX5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PAX5 (select a term)
intoGenPAX5
NCG5 (London)PAX5
Cancer3DPAX5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM167414    615545   
Orphanet14433    14433   
DisGeNETPAX5
MedgenPAX5
Genetic Testing Registry PAX5
NextProtQ02548 [Medical]
TSGene5079
GENETestsPAX5
Target ValidationPAX5
Huge Navigator PAX5 [HugePedia]
snp3D : Map Gene to Disease5079
BioCentury BCIQPAX5
ClinGenPAX5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5079
Chemical/Pharm GKB GenePA32959
Clinical trialPAX5
Miscellaneous
canSAR (ICR)PAX5 (select the gene name)
DataMed IndexPAX5
Probes
Litterature
PubMed157 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePAX5
EVEXPAX5
GoPubMedPAX5
iHOPPAX5
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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