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	Gene Summary
	Translation studies in PubMed
	Exon Skipping Events
	Expression
	Expression Regulation
	Associated Genes
	Protein 3D Structure
	Protein-Protein Interaction
	Mutations
	Prognostic Analysis
	Gender Association
	Age Association
	Related Drugs
	Related Diseases

Translation Factor: C1QBP (NCBI Gene ID:708)

Gene Summary

Gene Summary

Gene Information	Gene Name: C1QBP
	Gene ID: 708
	Gene Symbol	C1QBP
	Gene ID	708
	Gene Name	complement C1q binding protein
	Synonyms	COXPD33\|GC1QBP\|HABP1\|SF2AP32\|SF2p32\|gC1Q-R\|gC1qR\|p32
	Cytomap	17p13.2
	Type of Gene	protein-coding
	Description	complement component 1 Q subcomponent-binding protein, mitochondrialASF/SF2-associated protein p32C1q globular domain-binding proteincomplement component 1, q subcomponent binding proteinglycoprotein gC1qBPhyaluronan-binding protein 1mitochondrial m
	Modification date	20200327
	UniProtAcc	Q07021

Child GO biological process term(s) under GO:0006412

GO ID	GO term
GO:0006417	Regulation of translation
GO:0032543	Mitochondrial translation
GO:0045727	Positive regulation of translation
GO:0006412	Translation

Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	C1QBP	GO:0000122	negative regulation of transcription by RNA polymerase II	15243141
Hgene	C1QBP	GO:0030449	regulation of complement activation	8195709
Hgene	C1QBP	GO:0032689	negative regulation of interferon-gamma production	17881511
Hgene	C1QBP	GO:0032695	negative regulation of interleukin-12 production	16177118\|17881511
Hgene	C1QBP	GO:0039534	negative regulation of MDA-5 signaling pathway	19164550
Hgene	C1QBP	GO:0039536	negative regulation of RIG-I signaling pathway	19164550
Hgene	C1QBP	GO:0048025	negative regulation of mRNA splicing, via spliceosome	10022843
Hgene	C1QBP	GO:0090023	positive regulation of neutrophil chemotaxis	9461517

Inferred gene age of translation factor.

Gene

Inferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25

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Translation Studies in PubMed

We searched PubMed using 'C1QBP[title] AND translation [title] AND human.'

Gene	Title	PMID
C1QBP	.	.

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Exon Skipping Events

Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
For more annotations, please visit our ExonSkipDB.

Open reading frame (ORF) analsis of exon skipping events based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ENST	Exon skip start (DNA)	Exon Skip end (DNA)	ORF
ENST00000225698	5336988	5337087	In-frame
ENST00000225698	5338192	5338286	Frame-shift

Exon skipping position in the amino acid sequence.

ENST	Exon skip start (DNA)	Exon Skip end (DNA)	Len(transcript seq)	Exon skip start (mRNA)	Exon Skip end (mRNA)	Len(amino acid seq)	Exon skip start (AA)	Exon Skip end (AA)
ENST00000225698	5336988	5337087	1186	560	658	282	159	192

Potentially (partially) lost protein functional features of UniProt.

UniProtAcc	Exon skip start (AA)	Exon Skip end (AA)	Function feature start (AA)	Function feature end (AA)	Functional feature type	Functional feature desc.
Q07021	159	192	74	282	Chain	ID=PRO_0000018590;Note=Complement component 1 Q subcomponent-binding protein%2C mitochondrial
Q07021	159	192	168	213	Region	Note=Interaction with MAVS;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19164550;Dbxref=PMID:19164550
Q07021	159	192	188	188	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17693683,ECO:0000244\|PubMed:19690332;Dbxref=PMID:17693683,PMID:19690332
Q07021	159	192	186	186	Natural variant	ID=VAR_080391;Note=In COXPD33%3B unknown pathological significance. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28942965;Dbxref=dbSNP:rs748497469,PMID:28942965
Q07021	159	192	188	188	Natural variant	ID=VAR_080392;Note=In COXPD33%3B unknown pathological significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28942965;Dbxref=PMID:28942965
Q07021	159	192	168	174	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1P32
Q07021	159	192	175	177	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1P32
Q07021	159	192	180	187	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1P32

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Expression

Gene expression level across TCGA pancancer

Gene expression level across GTEx pantissue

Expression level of gene isoforms across TCGA pancancer

Expression level of gene isoforms across GTEx pantissue

Cancer(tissue) type-specific expression level of Translation factor using z-score distriution

Differential expression between tumor and matched normal (in the cancer types with more than 10 matched samples)

Cancer type	Translation factor	FC	adj.pval
KIRC	C1QBP	1.17076038676205	0.0001224322154943
KICH	C1QBP	1.8030954907134	0.00071495771408081
PRAD	C1QBP	-1.06650622252122	0.00539979031822387
LUAD	C1QBP	-1.57911217848951	2.84892178195224e-07
BRCA	C1QBP	-2.28323192626596	9.27668835374856e-07

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Expression Regulation

Translation factor expression regulation through miRNA binding

Cancer type

Gene

miRNA

TargetScan binding score (Context++ score percentile)

Coefficient

Pvalue

Translation factor expression regulation through methylation in the promoter of Translation factor

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through methylation in the gene body of Translation factor (positive regulation)

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through copy number variation of Translation factor

Cancer type	Gene	Coefficient	Pvalue
TGCT	C1QBP	0.093906646	0.035873553
MESO	C1QBP	-0.055679041	0.046921676

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with C1QBP (coefficient>0.8, pval<0.05, node color based on FC between tumor and matched normal). Significantly associated important genes in the individual cancer types. * Cell metabolism gene: cell metabolism genes from REACTOME (black edge), IUPHAR: drug target genes from IUPHAR (blue edge), Kinase: human kinase genes (brown edge), CGC: cancer gene census genes (orange edge), TSG: tumor suppresor genes (purple edge), Epifactor: epigenetic factors (light blue edge), TF: transcription factors (green)

Cancer type	Gene group	Translation factor	Correlated gene	Coefficient	Pvalue
DLBC	CGC	C1QBP	YWHAE	0.840486234	7.90E-14
DLBC	Epifactor	C1QBP	YWHAE	0.840486234	7.90E-14
GBM	Cell metabolism gene	C1QBP	PFDN5	0.803630101	3.66E-40
GBM	Cell metabolism gene	C1QBP	PSMD14	0.806169136	1.36E-40
GBM	Cell metabolism gene	C1QBP	TIMM8B	0.827226818	2.02E-44
GBM	Cell metabolism gene	C1QBP	PSMB3	0.827794373	1.57E-44
GBM	Cell metabolism gene	C1QBP	NME1	0.833852265	9.81E-46
GBM	Cell metabolism gene	C1QBP	SNRPG	0.838028362	1.36E-46
GBM	Cell metabolism gene	C1QBP	SUCLG1	0.838460227	1.11E-46
GBM	Cell metabolism gene	C1QBP	MED31	0.847984322	9.70E-49
GBM	Cell metabolism gene	C1QBP	PSMB6	0.85403217	4.03E-50
GBM	Epifactor	C1QBP	DPY30	0.820839362	3.31E-43
GBM	IUPHAR	C1QBP	PSMD14	0.806169136	1.36E-40
GBM	IUPHAR	C1QBP	PSMB6	0.85403217	4.03E-50
GBM	IUPHAR	C1QBP	ITGAE	0.874558228	2.56E-55
GBM	TSG	C1QBP	NME1	0.833852265	9.81E-46
LUAD	Cell metabolism gene	C1QBP	NUP88	0.802593383	6.74E-131
MESO	CGC	C1QBP	YWHAE	0.826754972	6.04E-23
MESO	Epifactor	C1QBP	YWHAE	0.826754972	6.04E-23
TGCT	Cell metabolism gene	C1QBP	PSMD12	0.829123527	9.93E-41
TGCT	Cell metabolism gene	C1QBP	HSPA9	0.836845847	3.87E-42
TGCT	Cell metabolism gene	C1QBP	NUP88	0.883958532	1.04E-52
THYM	Cell metabolism gene	C1QBP	RNPS1	0.811034023	1.02E-29
THYM	Cell metabolism gene	C1QBP	CCT5	0.811331862	9.38E-30
THYM	Epifactor	C1QBP	ENY2	0.816133883	2.33E-30
UCS	Cell metabolism gene	C1QBP	RNPS1	0.811034023	1.02E-29
UCS	Cell metabolism gene	C1QBP	CCT5	0.811331862	9.38E-30
UCS	Epifactor	C1QBP	ENY2	0.816133883	2.33E-30

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Protein structure

Protein 3D structure
Visit iCn3D.

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Protein-Protein Interaction

Protein-protein interaction networks
* Overlap between up-regulated DEGs (log2FC<-1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

Overlap between down-regulated DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

* Edge colors based on TCGA cancer types.

* Overlap between DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network per cancer (center: Translation factor, node: DEGs, node color: log2FC, edges: weighted by -log2(adj.P))

Cancer type	Translation factor	Interacting protein coding gene	FC	adj.pval
THCA	C1QBP	VTN	1.28276745138867	0.000220116892613013
COAD	C1QBP	KNG1	-3.10413335709857	0.00093446025255913
CHOL	C1QBP	F12	-2.44214547399536	0.00390625
CHOL	C1QBP	KNG1	-1.28948865251064	0.00390625
STAD	C1QBP	KNG1	-1.4401477705825	0.00578756669715221
UCEC	C1QBP	F12	-5.2372224071327	0.03125
READ	C1QBP	F12	2.0628950541957	0.03125
KIRC	C1QBP	KNG1	-3.70577623192573	1.69404445024402e-13
KIRC	C1QBP	F12	-1.69931217350839	2.47220823615057e-08
KIRP	C1QBP	KNG1	-3.63714937392736	4.6566128730774e-10
PRAD	C1QBP	F12	-1.42085562403013	4.77217715390586e-08
COAD	C1QBP	F12	1.58548695244954	5.66244125366212e-07
KICH	C1QBP	KNG1	-1.31430326642042	5.96046447753906e-08
LUAD	C1QBP	F12	-3.93403689698212	6.38046146019279e-11

Protein-protein interactors with this translation factor (BIOGRID-3.4.160)

PPI interactors with C1QBP

PRRC2A, FBL, SRSF9, SRSF1, GAB1, PRKD1, PRKCA, PRKCD, PRKCZ, MAPK3, MAPK1, MMP14, Rrp1b, HABP4, tat, EMD, UBC, MYC, ICT1, HDAC5, PARK2, YWHAB, YWHAG, Nhp2l1, Csnk1e, Trim28, Erh, Lsm14a, Pds5a, Ccdc15, Cdca8, Soga1, Espl1, MINOS1, PCK1, SREK1, RAD21, ARRB2, TCF3, CUL3, CUL4A, CUL4B, CUL5, CUL2, CUL1, COPS5, COPS6, DCUN1D1, CAND1, NEDD8, PPP2R1A, COIL, FYTTD1, GRK5, SGSH, NCAPD2, TOMM40, POLR1C, YBX3, NUP107, NUP153, FN1, CDH1, MRPS10, MRPS26, MRPS34, MRPL12, MRPL38, HSPD1, ERAL1, LRPPRC, LONP1, TFB2M, PHB, MRPS2, MRPS27, MRPS5, MRPL18, MRPL4, HSPA9, TSFM, PTCD3, CLPX, TFAM, PHB2, MRPS22, MRPS28, MRPS9, MRPL19, MRPL44, HSPA8, TUFM, MRPS23, DAP3, MRPS7, MRPL21, MRPL45, TRAP1, MRPS25, MRPS30, MRPL22, MRPL46, MRPL3, Tfam, Mrpl3, Mrps22, YWHAE, NOS2, UBL4A, NPM1, SOX2, ADRB2, NFKBIE, CEBPA, EXOSC6, HNRNPD, FBXO6, TARDBP, RASSF2, NARS, TRMT1, XRCC5, JUP, PDIA6, PSAP, PSME3, Fbxl16, GRSF1, MAGED2, UIMC1, CDKN2A, HUWE1, CUL7, OBSL1, SUZ12, RNF2, MAST3, WDR76, BEND7, OSM, RSPO1, RPS2, RSRP1, ZNF707, LUC7L, LUC7L2, GNAS, ZNF524, CHST8, ZRSR2, UBR5, NTRK1, AHCYL1, YBX1, UQCRC2, TCTN2, TCTN3, DVL2, XRCC1, GOLT1B, Ppp2r1a, Strn3, Tubg1, CRY1, TRIM29, MCM2, ERBB3, CHCHD2, CHCHD10, OPA3, SPATA20, C7orf55, PRSS35, C15orf48, NDUFA4, NDUFS3, CISD3, XPNPEP3, COQ6, COQ7, SLMO2, NME4, ADCK5, COQ9, PHYHIPL, PTPMT1, MCCC2, C17orf89, LYRM4, C2orf47, OXCT1, SUGCT, ADCK4, COQ2, BOLA3, C21orf33, LYRM2, OCIAD1, LACE1, ACP6, ACN9, PPTC7, OXCT2, ATP5A1, C6orf203, NDUFAF4, HOGA1, PAK7, LYRM1, ADCK1, COQ10B, LYRM5, FAM136A, NIT1, LACTB, COQ3, COX6B1, PREPL, PPM1K, ABHD11, CDC14B, BHLHA15, MAGEB10, GTF3C2, NEUROG3, CLEC3A, LLGL2, GLTSCR2, NPM2, TNFRSF13B, U2AF2, PRR20E, FOXD4, NOL9, RPL15, RPL18, JPH4, PDGFB, EEF1D, RPL28, RRS1, MAGEB4, E4F1, VTN, CYLD, TRIM25, BRD1, RNF169, CFTR, ARMC8, PYHIN1, AAR2, PIH1D1, EFTUD2, TNIP2, AKTIP, RIOK1, HCVgp1, ESR2, HEXIM1, MEPCE, LARP7, SNAI1, DLAT, RECQL4, REST, ZFP36L2, LMNA, HIST1H3A, RPS6, AURKAIP1, METTL3, METTL14, KIAA1429, RC3H1, RC3H2, LSM14A, NR2C2, FOXRED1, ATXN3, SLC25A24, NDUFS6, CANX, NDUFS4, CYB5A, ARMCX3, CHCHD4, WDR48, CAPNS1, HEXA, HIBADH, YWHAH, ALYREF, SNRNP70, ITFG1, HMGB1, HMGB2, BIRC3, WWP2, BRD7, Hsp22, LRRK2, KLF1, ARIH2, PLEKHA4, MIRLET7A1, MIRLET7A2, MIRLET7A3, MIRLET7B, MIRLET7C, MIRLET7D, MIRLET7E, MIRLET7F1, MIRLET7F2, MIRLET7G, MIRLET7I, MIR98, MIR1-1, MIR1-2, MIR7-1, MIR7-2, MIR7-3, MIR9-1, MIR9-2, MIR10B, MIR15A, MIR15B, MIR16-1, MIR16-2, MIR17, MIR18A, MIR18B, MIR19A, MIR19B1, MIR19B2, MIR20A, MIR20B, MIR21, MIR25, MIR29A, MIR29B1, MIR29B2, MIR29C, MIR31, MIR34A, MIR34B, MIR34C, MIR92A1, MIR92A2, MIR93, MIR106A, MIR106B, MIR107, MIR122, MIR128-1, MIR128-2, MIR138-1, MIR138-2, MIR140, MIR141, MIR143, MIR145, MIR155, MIR199A1, MIR199A2, MIR200A, MIR200B, MIR200C, MIR205, MIR206, MIR214, MIR221, MIR222, MIR363, MIR429, MIR451A, ZC3H18, PRKAR1A, PRKCI, HNRNPF, BUB1B, SAT2, SNIP1, ANKRD55, E, M, nsp4, nsp6, ORF7a, ORF7b, HTRA2, IMMP2L, FMR1, FXR1, FXR2, ST7, UBAP2L, DUX4L9, DUX4, CIT, ANLN, AURKB, CHMP4C, ECT2, KIF14, KIF20A, KIF23, PRC1, IFI16, ABCB7, ABHD10, ACAD9, ACADSB, ACAT1, ACOT1, ACOT2, AFG3L2, AK4, ALAS1, ALDH1B1, ALDH1L2, ALDH2, ALDH4A1, ANGEL2, ARG2, ATAD3A, ATP5B, ATP5C1, ATP5D, ATPIF1, ATP5J2-PTCD1, ATP5L, ATP5F1, ATP5H, ATP5J, ATP5O, ATPAF1, BCS1L, C17orf80, C8orf82, CARS2, CDK13, CDK5RAP1, CENPV, CLPP, CMAS, COQ5, COX2, COX4I1, COX5A, CS, DARS2, DDX21, DDX28, DDX50, DDX54, DHTKD1, DHX30, DHX57, DLST, EARS2, ECH1, ECHS1, ECI2, ECSIT, ELAC2, ETFA, ETFB, FASTKD2, FASTKD5, FAU, FECH, FLAD1, GADD45GIP1, GATB, GATC, GCDH, GFM1, GLS, GLUD1, GNL1, GNL3, GRPEL1, GTPBP10, GTPBP6, GUF1, HADH, HADHA, HARS2, HIBCH, HINT2, HMGA1, HNRNPAB, HNRNPDL, HNRNPL, HSD17B10, HSDL2, HSPE1, IARS2, IBA57, IDH3A, INCENP, LARS2, LBR, LETM1, LUC7L3, LYPLAL1, MDH2, ME2, METTL15, MGME1, MMAB, RNMTL1, MRPL1, MRPL10, MRPL13, MRPL15, MRPL16, MRPL17, MRPL2, MRPL20, MRPL23, MRPL24, MRPL27, MRPL28, MRPL35, MRPL37, MRPL39, MRPL40, MRPL41, MRPL42, MRPL43, MRPL47, MRPL48, MRPL49, MRPL50, MRPL51, MRPL52, MRPL53, MRPL54, MRPL55, MRPL9, MRPS11, MRPS14, MRPS16, MRPS17, MRPS18A, MRPS18B, MRPS18C, MRPS24, MRPS31, MRPS33, MRPS35, MRPS36, MRPS6, MTERF3, MTHFD1L, MTHFD2, MTIF2, NDUFA12, NDUFA2, NDUFA5, NDUFA6, NDUFA7, NDUFA9, NDUFAB1, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF5, NDUFS1, NDUFS2, NDUFS5, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFS1, NGRN, NIPSNAP1, NNT, NOA1, NOM1, NOP56, NT5DC2, NUDT19, OAT, OGDH, PAM16, PDE12, PDK1, PDK3, PNPT1, POLDIP2, POLG, POLRMT, PPA2, PPAN-P2RY11, PPIF, PRDX3, PUS1, PYCR1, PYCR2, QRSL1, RBFA, RPL23A, RPL27A, RPS14, RPS23, RPS24, RPS8, RRP1, RRP15, RTN4IP1, SDHA, SDHB, SHMT2, SLC30A9, SLIRP, STOML2, SUCLA2, SUCLG1, SUPV3L1, TACO1, THEM4, TIMM44, TRMT10C, TRMT5, TTN, C10orf2, UQCC1, UTP3, VARS2, VWA8, MRPS12, PTPN1, ORF4b, INS, Rnf183, NUPR1, Apc2, RBM39, FBP1, LGALS9, BKRF1, DNAJB6, DNAJC14, DNAJC15, DNAJC19, DNAJC25, DNAJC30, DNAJC8, HSCB, CD274, ISG15, UFL1, DDRGK1, AARS2, COX8A, HIST1H2BG, LMNB1, PDHA1, FZR1, MBD1, MBD2, SHANK3, NAA40, LRRC17, ZNF689, TNP2, CCDC140, ZNF385C, SOX21, GNLY, EPS8L1, FOXE3, RNASEH1, HMGA2, ZNF653, TCF15, RPL17, YBX2, RPL32, DUXAP10, H2AFB2, RPL8, CHTOP, GDF15, TNFSF12, H2AFB3, PRM2, HIST1H3J, CHST5, H2AFB1, BHLHE23, KIAA1522, TTC16, PRR20A, THRAP3, TFPT, RPS9, HIST1H3E, H1FNT, RPL37, GAS2L2, HIST1H3F, LRP3, ERH, MZF1, MAGEB2, RPL10, NEIL1, AKAP17A, USP51, ZNF747, SPRTN, BTF3, ESR1, EP300, SIRT6, NKX2-5, ZEB1,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
C1QBP	chr17	5336188	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
C1QBP	chr17	5336210	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
C1QBP	chr17	5336215	A	AT	Duplication	Benign	not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
C1QBP	chr17	5336360	A	G	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
C1QBP	chr17	5336361	G	A	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
C1QBP	chr17	5336445	C	A	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
C1QBP	chr17	5336492	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
C1QBP	chr17	5336594	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
C1QBP	chr17	5336700	G	C	single_nucleotide_variant	Likely_pathogenic	Combined_oxidative_phosphorylation_deficiency_33\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
C1QBP	chr17	5336791	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
C1QBP	chr17	5337000	GATA	G	Deletion	Pathogenic	Combined_oxidative_phosphorylation_deficiency_33	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
C1QBP	chr17	5337008	C	G	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
C1QBP	chr17	5337137	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
C1QBP	chr17	5338059	T	TA	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
C1QBP	chr17	5338093	AT	A	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
C1QBP	chr17	5338301	GAAAACAGACAAGGC	G	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
C1QBP	chr17	5341749	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
C1QBP	chr17	5342265	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
C1QBP	chr17	5342558	A	AC	Duplication	Benign	not_provided

nsSNVs with sample frequency (size of circle) from TCGA 33 cancers.

SNVs and Indels

Gene	Cancer type	Chromosome	Start	End	RefSeeq	MutSeq	Mutation type	AAchange	# samples
C1QBP	CESC	chr17	5337036	5337036	C	G	Missense_Mutation		3
C1QBP	PAAD	chr17	5336648	5336648	T	C	Missense_Mutation	p.T222A	2
C1QBP	UCEC	chr17	5341581	5341581	A	G	Missense_Mutation	p.F82S	2
C1QBP	SARC	chr17	5336409	5336409	G	T	Missense_Mutation		2
C1QBP	UCS	chr17	5338195	5338195	C	T	Missense_Mutation	p.E159K	2
C1QBP	LIHC	chr17	5336663	5336663	A	G	Missense_Mutation		2
C1QBP	CHOL	chr17	5341560	5341560	T	G	Missense_Mutation		2
C1QBP	SKCM	chr17	5338248	5338248	G	A	Missense_Mutation	p.P141L	2
C1QBP	CHOL	chr17	5341560	5341560	T	G	Missense_Mutation	p.E89A	2
C1QBP	LIHC	chr17	5336345	5336345	T	A	Missense_Mutation		2
C1QBP	SKCM	chr17	5338271	5338271	G	A	Silent	p.F133F	2
C1QBP	STAD	chr17	5338255	5338255	T	C	Missense_Mutation	p.I139V	2
C1QBP	ESCA	chr17	5336678	5336678	G	T	Missense_Mutation	p.Q212K	2
C1QBP	STAD	chr17	5337060	5337060	C	T	Missense_Mutation	p.V169M	2
C1QBP	TGCT	chr17	5336638	5336638	G	A	Missense_Mutation		2
C1QBP	BLCA	chr17	5336678	5336678	G	C	Missense_Mutation	p.Q212E	2
C1QBP	UCEC	chr17	5336703	5336703	G	T	Silent	p.I203	2
C1QBP	PAAD	chr17	5336648	5336648	T	C	Missense_Mutation		2
C1QBP	UCEC	chr17	5341484	5341484	A	G	Silent	p.N114	2
C1QBP	LIHC	chr17	5341476	5341476	T	C	Missense_Mutation		1
C1QBP	CESC	chr17	5342165	5342165	C	T	Missense_Mutation	p.D77N	1
C1QBP	SARC	chr17	5336409	5336409	G	T	Missense_Mutation	p.L259I	1
C1QBP	LIHC	chr17	5341544	5341544	T	C	Silent		1
C1QBP	DLBC	chr17	5336352	5336352	A	C	Missense_Mutation	p.F278V	1
C1QBP	LUSC	chr17	5337084	5337084	C	T	Missense_Mutation	p.E161K	1
C1QBP	MESO	chr17	5342251	5342251	A	T	Missense_Mutation		1
C1QBP	GBM	chr17	5338220	5338220	C	T	Silent		1
C1QBP	MESO	chr17	5342251	5342251	A	T	Missense_Mutation	p.V48E	1
C1QBP	HNSC	chr17	5336447	5336447	C	T	Missense_Mutation		1
C1QBP	MESO	chr17	5342384	5342384	G	A	Silent	p.L4L	1
C1QBP	BLCA	chr17	5336678	5336678	G	C	Missense_Mutation		1
C1QBP	TGCT	chr17	5336638	5336638	G	A	Missense_Mutation	p.T225I	1
C1QBP	HNSC	chr17	5337061	5337061	G	A	Silent		1
C1QBP	OV	chr17	5341451	5341451	G	C	Silent	p.A125A	1
C1QBP	HNSC	chr17	5336447	5336447	C	T	Missense_Mutation	p.R246Q	1
C1QBP	BLCA	chr17	5338204	5338204	C	A	Nonsense_Mutation	p.E156*	1
C1QBP	HNSC	chr17	5337061	5337061	G	A	Silent	p.F168F	1

Copy number variation (CNV) of C1QBP
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across C1QBP
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion genes with this translation factor from FusionGDB2.0.

FusionGDB2 ID	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
101264	N/A	EC573083	C1QBP	chr17	5336193	-	DLC1	chr8	13449857	-
91127	COAD	TCGA-AA-A03F-01A	C1QBP	chr17	5336362	-	EFHD2	chr1	15756722	+
90848	N/A	EC580209	C1QBP	chr17	5336266	-	NARS2	chr11	78163647	-
101666	N/A	EC565138	C1QBP	chr17	5336266	-	RABEP1	chr17	5264636	-
71528	N/A	BF432700	C1QBP	chr17	5335862	-	RPAIN	chr17	5331531	-
71528	N/A	EC439807	C1QBP	chr17	5336142	-	RPAIN	chr17	5336140	-
71528	N/A	EC446106	C1QBP	chr17	5336173	-	RPAIN	chr17	5336171	-
71528	N/A	EC454886	C1QBP	chr17	5336111	-	RPAIN	chr17	5336109	-
71528	N/A	EC518596	C1QBP	chr17	5336119	-	RPAIN	chr17	5336117	-
71528	N/A	EC557689	C1QBP	chr17	5336109	-	RPAIN	chr17	5336107	-
75688	ESCA	TCGA-L5-A893	CAPZA1	chr1	113162505	+	C1QBP	chr17	5338286	-
75688	N/A	BP429323	CHCHD3	chr7	132719625	+	C1QBP	chr17	5336444	+
75688	N/A	EC564397	CNTNAP2	chr7	147184328	-	C1QBP	chr17	5336355	-
75688	N/A	BQ323647	KDM5C	chrX	53221850	+	C1QBP	chr17	5337043	-
75688	ESCA	TCGA-VR-A8EU	NLRP1	chr17	5485178	-	C1QBP	chr17	5338286	-
75688	ESCA	TCGA-VR-A8EU-01A	NLRP1	chr17	5485179	-	C1QBP	chr17	5338286	-
75688	Non-Cancer	ERR188417	RBBP4	chr1	33127938	+	C1QBP	chr17	5338286	-
75695	N/A	AI419366	RPAIN	chr17	5336399	+	C1QBP	chr17	5336627	+
75695	N/A	AI424179	RPAIN	chr17	5336484	+	C1QBP	chr17	5336613	+

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Prognostic Analysis

Kaplan-Meier plots with logrank tests of overall survival (OS)

Cancer type

Translation factor

Coefficent

Hazard ratio

Wald test pval

Likelihool ratio pval

Logrank test pval

# samples

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Translation factor and Gender

Differential gene expression between female and male. (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
LUAD	C1QBP	0.000369652871684727	0.01
STAD	C1QBP	0.0126802492062686	0.34
TGCT	C1QBP	0.0373822016565736	0.97

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Translation factor and Age

Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
LUSC	C1QBP	0.00608463700892508	0.18
KIRC	C1QBP	0.00456518078788235	0.15
KICH	C1QBP	0.000746791604693295	0.025
LAML	C1QBP	0.00531235499848423	0.16
PAAD	C1QBP	0.0217807902715892	0.61
PCPG	C1QBP	0.0409734342517538	1
THYM	C1QBP	0.0172153268743189	0.5
SARC	C1QBP	0.034585918759901	0.9
HNSC	C1QBP	0.0277172694969731	0.75

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Related Drugs

Drugs targeting genes involved in this translation factor.
(DrugBank Version 5.1.8 2021-05-08)

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
Q07021	DB09130	Copper		Small molecule	Approved\|Investigational
Q07021	DB09130	Copper

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Related Diseases

Diseases associated with this translation factor.
(DisGeNet 4.0)

Disease ID	Disease Name	# PubMeds	Disease source
C0006142	Malignant neoplasm of breast	1	CTD_human
C0678222	Breast Carcinoma	1	CTD_human
C1257931	Mammary Neoplasms, Human	1	CTD_human
C4540209	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	1	GENOMICS_ENGLAND;UNIPROT
C4704874	Mammary Carcinoma, Human	1	CTD_human