EuRBPDB

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TCGA tumor abbreviations
  • ACCAdrenocortical carcinoma
  • BLCABladder Urothelial Carcinoma
  • BRCABreast invasive carcinoma
  • CESCCervical squamous cell carcinoma and endocervical adenocarcinoma
  • CHOLCholangio carcinoma
  • COADColon adenocarcinoma
  • DLBCLymphoid Neoplasm Diffuse Large B-cell Lymphoma
  • ESCAEsophageal carcinoma
  • GBMGlioblastoma multiforme
  • HNSCHead and Neck squamous cell carcinoma
  • KICHKidney Chromophobe
  • KIRCKidney renal clear cell carcinoma
  • KIRPKidney renal papillary cell carcinoma
  • LAMLAcute Myeloid Leukemia
  • LGGBrain Lower Grade Glioma
  • LIHCLiver hepatocellular carcinoma
  • LUADLung adenocarcinoma
  • LUSCLung squamous cell carcinoma
  • MESOMesothelioma
  • OVOvarian serous cystadenocarcinoma
  • PAADPancreatic adenocarcinoma
  • PCPGPheochromocytoma and Paraganglioma
  • PRADProstate adenocarcinoma
  • READRectum adenocarcinoma
  • SARCSarcoma
  • SKCMSkin Cutaneous Melanoma
  • STADStomach adenocarcinoma
  • TGCTThyroid carcinoma
  • THCAThyroid carcinoma
  • THYMThymoma
  • UCECUterine Corpus Endometrial Carcinoma
  • UCSUterine Carcinosarcoma
  • UVMUveal Melanoma

Note: Click here to get the extension of tumor abbreviations.


  • Cancer Related Information
  • Basic Information

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
BLCAchr5172339721Missense_Mutationrs753004133E462K0.31
BLCAchr5172338669Frame_Shift_InsnovelL812Ffs*60.56
BLCAchr5172350451SilentnovelN308N0.72
BLCAchr5172346241SilentNAP361P0.17
BLCAchr5172339778Missense_Mutationrs138949033E443K0.44
BLCAchr5172338981Silentrs370525113R708R0.13
BLCAchr5172362741Missense_MutationnovelE186K0.34
BLCAchr5172346167Missense_MutationNAG386D0.37
BLCAchr5172362751SilentnovelI182I0.53
BLCAchr5172338846SilentnovelQ753Q0.32
BLCAchr5172346241SilentNAP361P0.32
BLCAchr5172347333Splice_SitenovelX338_splice0.39
BRCAchr5172382097Nonsense_MutationnovelQ114*0.12
BRCAchr5172382073Missense_MutationNAF122L0.25
BRCAchr5172339425Missense_MutationNAI560M0.34
BRCAchr51723382583'UTRnovel0.33
BRCAchr5172339134Silentrs748522040G657G0.45
BRCAchr5172339086SilentNAA673A0.27
BRCAchr5172350415Missense_MutationnovelQ320H0.15
BRCAchr5172347300Missense_MutationNAR349C0.18
BRCAchr5172339107SilentNAL666L0.16
BRCAchr5172339694Missense_MutationnovelP471S0.12
BRCAchr5172339641Missense_MutationNAW488C0.37
CESCchr5172422425Frame_Shift_DelnovelF49Lfs*470.4
CESCchr5172353980Silentrs143272304P231P0.41
CESCchr5172339796SilentNAL437L0.3
CESCchr5172338649Missense_Mutationrs200899339R819Q0.56
CESCchr51723339483'UTRnovel0.63
CESCchr5172350521Missense_Mutationrs141428218P285L0.4
CESCchr5172350399Missense_Mutationrs771397027E326Q0.2
CESCchr5172339541Missense_MutationNAL522V0.28
CESCchr5172454350Missense_Mutationnovel0.11
CESCchr5172338886Missense_MutationNAS740C0.32
COADchr5172339145Missense_MutationNAP654S0.31
COADchr5172339324Missense_MutationNAM594R0.36
COADchr5172350371Missense_MutationnovelA335G0.22
COADchr5172339484Missense_MutationNAR541W0.13
COADchr5172339740Silentrs374958326L455L0.42
COADchr5172422445Missense_Mutationrs267607046R43W0.38
COADchr5172350450Missense_Mutationrs200725740A309T0.19
COADchr5172350524Missense_MutationNAP284L0.2
COADchr5172338981Silentrs370525113R708R0.14
COADchr5172346195Missense_Mutationrs779664507A377T0.36
COADchr5172339484Missense_MutationNAR541W0.38
COADchr5172339169Missense_MutationnovelP646T0.16
COADchr5172339790Missense_MutationnovelP439T0.18
COADchr5172338664Frame_Shift_DelnovelG814Afs*370.38
COADchr5172346167Missense_MutationNAG386D0.11
COADchr5172339901SilentNAL402L0.31
COADchr5172353981Missense_MutationnovelP231L0.06
ESCAchr51723339393'UTRnovel0.33
GBMchr5172373814Missense_MutationnovelE135Q0.07
GBMchr5172339401Silentrs142812825H568H0.37
GBMchr5172362737Frame_Shift_DelnovelS187*0.12
GBMchr5172353980Silentrs143272304P231P0.48
GBMchr5172338873SilentnovelP744P0.13
GBMchr5172338930SilentnovelS725S0.28
GBMchr5172339331Missense_MutationnovelN592H0.13
GBMchr5172339478Missense_MutationnovelR543G0.31
HNSCchr5172353907Missense_MutationnovelE256K0.35
HNSCchr5172347313SilentnovelQ344Q0.12
HNSCchr5172339184Missense_MutationnovelQ641E0.76
HNSCchr5172422441Missense_MutationnovelR44H0.26
HNSCchr5172382080SilentnovelL119L0.4
KIRCchr5172339887Frame_Shift_DelnovelW406Cfs*390.2
KIRCchr5172362867Missense_MutationNAG144S0.17
LIHCchr5172339058Missense_MutationnovelG683W0.15
LIHCchr5172339306Missense_MutationnovelH600P0.3
LIHCchr5172339050SilentnovelG685G0.16
LUADchr5172338888SilentNAV739V0.66
LUADchr5172422418Nonsense_MutationNAQ52*0.27
LUADchr5172338849SilentNAQ752Q0.14
LUADchr5172339416Missense_Mutationrs769620312M563I0.5
LUADchr5172338966SilentnovelT713T0.31
LUADchr5172350409Silentrs375297664D322D0.1
LUADchr5172338394Missense_MutationNAS904Y0.16
LUADchr5172339663Missense_MutationNAG481V0.24
LUADchr5172338995Nonsense_MutationNAE704*0.3
LUADchr5172339857Missense_MutationnovelW416C0.74
LUADchr5172338869Missense_MutationNAP746S0.23
LUADchr5172338618Silentrs766920772T829T0.34
LUADchr5172350434Missense_MutationNAK314M0.5
LUADchr5172339605SilentNAS500S0.15
LUADchr5172422419SilentNAL51L0.26
LUADchr5172346206Missense_MutationNAY373C0.37
LUADchr5172339493Nonsense_MutationnovelE538*0.32
LUADchr5172350405Missense_Mutationrs199739437R324W0.16
LUADchr5172338470Missense_Mutationrs767729554R879W0.13
LUSCchr5172339578SilentNAE509E0.52
LUSCchr5172339613Missense_Mutationrs201272196A498T0.43
LUSCchr5172339536SilentNAP523P0.73
LUSCchr5172406297Missense_MutationNAR71L0.29
LUSCchr5172338577Missense_MutationNAS843F0.27
LUSCchr5172350364Missense_MutationnovelQ337H0.24
LUSCchr5172339012Missense_Mutationrs144659619R698Q0.09
LUSCchr5172339302Missense_MutationNAK601N0.64
LUSCchr5172338460Missense_Mutationrs769448762N882S0.74
LUSCchr5172339398Silentrs370969150I569I0.38
LUSCchr5172338613Missense_MutationNAK831R0.13
OVchr5172339610Missense_MutationnovelS499T0.26
OVchr5172339093Missense_MutationNAR671T0.2
OVchr5172338932Missense_MutationNAS725A0.25
OVchr5172350561Missense_MutationNAA272S0.24
OVchr5172339344SilentNAL587L0.28
OVchr5172394563Missense_MutationnovelK103N0.06
OVchr5172339499Missense_MutationnovelL536M0.16
OVchr5172346195Missense_MutationnovelA377S0.09
OVchr5172338748Missense_MutationnovelH786P0.28
PAADchr5172353891Missense_MutationnovelI261S0.03
PAADchr5172394590SilentnovelR94R0.12
PRADchr5172422473Missense_MutationnovelW33C0.13
READchr5172362791Missense_Mutationrs777163334S169L0.13
READchr5172338779Missense_MutationNAP776T0.33
READchr5172347303Missense_MutationnovelP348T0.34
READchr5172338531SilentnovelV858V0.24
READchr5172339666Missense_Mutationrs781378826S480L0.29
READchr5172362791Missense_Mutationrs777163334S169L0.27
READchr5172339232Missense_MutationNAE625K0.25
SARCchr5172339851Silentrs115528822P418P0.46
SARCchr5172382053Missense_MutationnovelD128E0.15
SARCchr51723338803'UTRnovel0.48
SARCchr51723383583'UTRnovel0.1
SKCMchr5172338796Missense_Mutationrs753378126S770L0.26
SKCMchr5172339264Missense_MutationNAP614L0.31
SKCMchr5172350553SilentnovelY274Y0.3
SKCMchr5172406331Missense_MutationNAP60S0.24
SKCMchr5172338869Missense_MutationNAP746S0.43
SKCMchr5172338394Missense_MutationNAS904F0.24
SKCMchr5172338833Missense_MutationNAP758S0.21
SKCMchr5172339705Missense_MutationNAS467F0.29
SKCMchr5172394569SilentnovelY101Y0.45
SKCMchr5172339258Missense_MutationNAS616F0.34
SKCMchr5172350561Missense_Mutationrs201224113A272T0.53
SKCMchr5172339214Missense_MutationNAP631S0.43
SKCMchr5172338922Missense_MutationNAA728V0.66
SKCMchr5172338705SilentNAV800V0.26
SKCMchr5172358837SilentnovelV201V0.33
SKCMchr5172338954SilentNAD717D0.32
SKCMchr5172339530SilentNAR525R0.12
SKCMchr51723382843'UTRnovel0.62
SKCMchr5172339293SilentNAA604A0.14
SKCMchr5172346186Nonsense_MutationNAQ380*0.26
STADchr5172358806Frame_Shift_DelnovelV212Cfs*290.37
STADchr5172406352Missense_MutationnovelM53L0.07
STADchr5172338426SilentNAS893S0.15
STADchr5172339012Missense_Mutationrs144659619R698Q0.27
STADchr5172339468Missense_Mutationrs538706044T546M0.2
STADchr5172339374SilentnovelR577R0.06
STADchr5172339820Missense_MutationNAS429G0.26
STADchr5172338826Frame_Shift_InsnovelR760Pfs*250.23
STADchr5172406287Frame_Shift_DelnovelL76Cfs*200.19
STADchr51723383063'UTRnovel0.15
STADchr5172339330Frame_Shift_DelnovelN592Mfs*160.4
STADchr5172339915Missense_MutationNAV397A0.2
STADchr5172338747SilentnovelH786H0.19
STADchr5172338726SilentNAT793T0.27
STADchr51723383113'UTRnovel0.3
STADchr5172339812Silentrs371831121A431A0.25
STADchr5172347305Frame_Shift_DelnovelP347Lfs*60.15
STADchr5172350408Missense_MutationNAG323W0.11
STADchr5172394622Nonsense_Mutationrs61755907R84*0.14
STADchr5172350373Silentrs368325663D334D0.2
THCAchr5172346192Missense_MutationnovelE378K0.38
THYMchr5172339738Missense_MutationnovelE456A0.09
UCECchr5172358867Silentrs765761432F191F0.31
UCECchr5172338981Silentrs370525113R708R0.18
UCECchr5172339617SilentNAR496R0.38
UCECchr5172339134Silentrs748522040G657G0.32
UCECchr51723337623'UTRnovel0.15
UCECchr5172347298SilentnovelR349R0.32
UCECchr5172358818Missense_MutationnovelG208C0.22
UCECchr5172338879SilentNAS742S0.39
UCECchr5172339744Missense_MutationnovelA454V0.55
UCECchr5172339176SilentnovelR643R0.14
UCECchr5172339490Missense_Mutationrs199704139R539W0.31
UCECchr5172338514Missense_MutationnovelD864G0.18
UCECchr5172338879SilentNAS742S0.14
UCECchr5172339893SilentNAG404G0.29
UCECchr5172406277Missense_MutationNAG78C0.23
UCECchr5172394621Missense_MutationNAR84Q0.4
UCECchr5172358828Silentrs138884377T204T0.2
UCECchr5172339012Missense_Mutationrs144659619R698Q0.08
UCECchr5172339781Missense_MutationnovelH442Y0.33
UCECchr51723339653'UTRnovel0.15
UCECchr5172353902SilentnovelG257G0.35
UCECchr51723365563'UTRnovel0.09
UCECchr5172339746SilentnovelA453A0.33
UCECchr5172373798Frame_Shift_DelnovelK140Rfs*210.09
UCECchr5172362791Missense_Mutationrs777163334S169L0.38
UCECchr51723364043'UTRnovel0.5
UCECchr5172338618Silentrs766920772T829T0.55
UCECchr5172339264Missense_MutationNAP614L0.35
UCECchr5172338795Silentrs151103801S770S0.21
UCECchr5172406326Missense_MutationNAM61I0.34
UCECchr5172339510Missense_Mutationrs751214999S532L0.57
UCECchr5172339737Missense_MutationnovelE456D0.49
UCECchr5172362751SilentnovelI182I0.15
UCECchr51723366923'UTRnovel0.24
UCECchr5172338534SilentNAA857A0.14
UCECchr5172339337Missense_MutationnovelL590V0.32
UCECchr51723366563'UTRnovel0.25
UCECchr5172339644Missense_MutationnovelD487E0.35
UCECchr5172346192Missense_MutationnovelE378K0.22
UCECchr51723364763'UTRnovel0.36
UCECchr5172350525Missense_MutationnovelP284S0.56
UCECchr5172338856Missense_MutationnovelA750D0.12
UCECchr5172339000Missense_MutationNAP702L0.42
UCECchr5172382087Missense_MutationnovelE117V0.12
UCECchr5172350393Missense_Mutationrs770233178R328C0.16
UCECchr5172382106Frame_Shift_InsnovelY111Lfs*60.42
UCECchr5172339420Missense_Mutationrs147475342P562L0.34
UCECchr51723338213'UTRnovel0.45
UCECchr51723383033'UTRnovel0.49
UCECchr5172339235Nonsense_MutationnovelE624*0.33
UCECchr5172339521SilentnovelS528S0.32
UCECchr5172350524Missense_MutationNAP284L0.27
UCECchr5172338527Missense_Mutationrs765472301D860N0.2
UCECchr5172339635SilentnovelG490G0.35
UCECchr5172373797Missense_MutationnovelK140N0.42
UCECchr5172339484Missense_MutationNAR541W0.35
UCECchr5172338846Missense_MutationnovelQ753H0.23
UCSchr5172422416Splice_RegionnovelQ52Q0.24
UCSchr5172339012Missense_Mutationrs144659619R698Q0.31

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
KIRCAMP0.59092.1944e-60
KIRPAMP0.11460.069756
KIRPDEL0.03820.11554
LGGDEL0.09361.86e-07
LUADAMP0.17640.24967
LUSCDEL0.61080.002071
MESODEL0.11490.20184
PRADAMP0.03660.16448
THCADEL0.0020.23456

Survival Analysis
CancerP-value Q-value
STAD0.01

Kaplan-Meier Survival Analysis

SARC0.039

Kaplan-Meier Survival Analysis

MESO0.00013

Kaplan-Meier Survival Analysis

SKCM0.00016

Kaplan-Meier Survival Analysis

ESCA0.0053

Kaplan-Meier Survival Analysis

KIRP0.027

Kaplan-Meier Survival Analysis

PAAD0.05

Kaplan-Meier Survival Analysis

BLCA0.00062

Kaplan-Meier Survival Analysis

CESC0.022

Kaplan-Meier Survival Analysis

LAML0.042

Kaplan-Meier Survival Analysis

KICH0.043

Kaplan-Meier Survival Analysis

LIHC0.00069

Kaplan-Meier Survival Analysis

LGG0.0001

Kaplan-Meier Survival Analysis

CHOL0.04

Kaplan-Meier Survival Analysis

UVM0.00013

Kaplan-Meier Survival Analysis

OV0.012

Kaplan-Meier Survival Analysis

  • Description
  • RBPome
  • Expression
  • Transcripts
  • Gene Model
  • Phenotypes
  • GWAS
  • PPI
  • Gene Ontology
Description
Ensembl ID
ENSG00000174705 (Gene tree)
Gene ID
285590
Gene Symbol
SH3PXD2B
Alias
FLJ20831|KIAA1295
Full Name
SH3 and PX domains 2B
Gene Type
protein_coding
Species
Homo_sapiens
Status
putative
Strand
Minus strand
Length
129,524 bases
Position
chr5:172,325,000-172,454,523
Accession
29242
RBP type
non-canonical RBP
Summary
This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
RNA binding proteome (RBPome)
PIDTitleMethod TimeAuthorDoi
29431736Capturing the interactome of newly transcribed RNARIC & Hela2018 Feb 12Bao XDOI: 10.1038/nmeth.4595
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & MCF10A2019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000518522SH3PXD2B-202471-ENSP0000042807681 (aa)-H0YAU1
ENST00000519643SH3PXD2B-2031394-ENSP00000430890430 (aa)-G3V144
ENST00000636523SH3PXD2B-2051609-ENSP00000490082444 (aa)-A0A1B0GUF2
ENST00000311601SH3PXD2B-2017777XM_017009351ENSP00000309714911 (aa)XP_016864840A1X283
ENST00000523651SH3PXD2B-204390--- (aa)--
Gene Model
Click here to download ENSG00000174705's gene model file
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000174705Coronary Artery Disease7.6310000E-005-
ENSG00000174705Fibrinogen5.5960000E-005-
ENSG00000174705Child Development Disorders, Pervasive2.3552300E-005-
ENSG00000174705Child Development Disorders, Pervasive3.6261200E-005-
ENSG00000174705C-Reactive Protein7.3650000E-005-
ENSG00000174705C-Reactive Protein5.9890000E-005-
ENSG00000174705C-Reactive Protein5.1390000E-005-
ENSG00000174705C-Reactive Protein4.1060000E-005-
ENSG00000174705Body Mass Index9E-825133637
ENSG00000174705Gastrointestinal Microbiome5E-827694959
ENSG00000174705Body Mass Index5E-725133637
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000174705rs68662045172426154?Balding type 130595370EFO_0007825
ENSG00000174705rs68597525172424930TMale-pattern baldness30573740[0.026-0.039] unit decrease0.0328466EFO_0007825
ENSG00000174705rs68662045172426154?Waist-hip ratio30595370EFO_0004343
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000174705's network

* RBP PPI network refers to all genes directly bind to RBP
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0001501skeletal system development20137777.IMPProcess
GO:0001654eye development20137777.IMPProcess
GO:0002051osteoblast fate commitment-IEAProcess
GO:0002102podosome-ISSComponent
GO:0005515protein binding19755710.20609497.IPIFunction
GO:0005737cytoplasm-ISSComponent
GO:0006801superoxide metabolic process21873635.IBAProcess
GO:0006801superoxide metabolic process19755710.IDAProcess
GO:0007507heart development20137777.IMPProcess
GO:0010314phosphatidylinositol-5-phosphate binding21873635.IBAFunction
GO:0010314phosphatidylinositol-5-phosphate binding-ISSFunction
GO:0010628positive regulation of gene expression-IEAProcess
GO:0016176superoxide-generating NADPH oxidase activator activity21873635.IBAFunction
GO:0022617extracellular matrix disassembly19755710.IMPProcess
GO:0030054cell junction-IEAComponent
GO:0032266phosphatidylinositol-3-phosphate binding21873635.IBAFunction
GO:0032266phosphatidylinositol-3-phosphate binding-ISSFunction
GO:0035091phosphatidylinositol binding21873635.IBAFunction
GO:0040018positive regulation of multicellular organism growth-IEAProcess
GO:0042169SH2 domain binding-ISSFunction
GO:0042995cell projection-IEAComponent
GO:0043085positive regulation of catalytic activity-IEAProcess
GO:0045600positive regulation of fat cell differentiation-IEAProcess
GO:0048705skeletal system morphogenesis-IEAProcess
GO:0051496positive regulation of stress fiber assembly-IEAProcess
GO:0060348bone development20137777.IMPProcess
GO:0060378regulation of brood size-IEAProcess
GO:0060612adipose tissue development-ISSProcess
GO:0070273phosphatidylinositol-4-phosphate binding21873635.IBAFunction
GO:0071800podosome assembly-ISSProcess
GO:0072657protein localization to membrane19755710.IDAProcess
GO:0080025phosphatidylinositol-3,5-bisphosphate binding21873635.IBAFunction
GO:0080025phosphatidylinositol-3,5-bisphosphate binding-ISSFunction
GO:1904179positive regulation of adipose tissue development-IEAProcess
GO:1904888cranial skeletal system development-IEAProcess
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