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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: PUS7 (NCBI Gene ID:54517)

Gene Summary

Gene Summary

Gene Information	Gene Name: PUS7
	Gene ID: 54517
	Gene Symbol	PUS7
	Gene ID	54517
	Gene Name	pseudouridine synthase 7
	Synonyms	IDDABS
	Cytomap	7q22.3
	Type of Gene	protein-coding
	Description	pseudouridylate synthase 7 homologpseudouridylate synthase 7 (putative)
	Modification date	20200313
	UniProtAcc	Q96PZ0

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

GO ID	GO term
GO:0017148	Negative regulation of translation
GO:0006417	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	PUS7	GO:0017148	negative regulation of translation	29628141
Hgene	PUS7	GO:0031119	tRNA pseudouridine synthesis	29628141

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
PUS7	>1119.25

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Translation Studies in PubMed

We searched PubMed using 'PUS7[title] AND translation [title] AND human.'

Gene	Title	PMID
PUS7	PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation	35144859

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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
ENST00000356362	105099614	105099706	Frame-shift
ENST00000469408	105099614	105099706	Frame-shift
ENST00000356362	105103067	105103197	Frame-shift
ENST00000469408	105103067	105103197	Frame-shift
ENST00000356362	105105759	105105861	In-frame
ENST00000469408	105105759	105105861	In-frame
ENST00000356362	105108783	105108910	Frame-shift
ENST00000469408	105108783	105108910	Frame-shift
ENST00000356362	105111134	105111295	Frame-shift
ENST00000469408	105111134	105111295	Frame-shift
ENST00000356362	105112578	105112640	Frame-shift
ENST00000469408	105112578	105112640	Frame-shift
ENST00000356362	105122758	105122887	In-frame
ENST00000469408	105122758	105122887	In-frame
ENST00000356362	105142866	105143011	Frame-shift
ENST00000469408	105142866	105143011	Frame-shift
ENST00000356362	105146401	105146503	In-frame
ENST00000469408	105146401	105146503	In-frame
ENST00000356362	105146635	105146720	Frame-shift
ENST00000469408	105146635	105146720	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)
ENST00000469408	105105759	105105861	2373	1765	1866	661	508	542
ENST00000356362	105105759	105105861	3497	1741	1842	661	508	542
ENST00000469408	105122758	105122887	2373	1160	1288	661	307	349
ENST00000356362	105122758	105122887	3497	1136	1264	661	307	349
ENST00000469408	105146401	105146503	2373	723	824	661	161	195
ENST00000356362	105146401	105146503	3497	699	800	661	161	195

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.
Q96PZ0	307	349	1	661	Chain	ID=PRO_0000152558;Note=Pseudouridylate synthase 7 homolog
Q96PZ0	161	195	1	661	Chain	ID=PRO_0000152558;Note=Pseudouridylate synthase 7 homolog
Q96PZ0	508	542	1	661	Chain	ID=PRO_0000152558;Note=Pseudouridylate synthase 7 homolog
Q96PZ0	307	349	1	661	Chain	ID=PRO_0000152558;Note=Pseudouridylate synthase 7 homolog
Q96PZ0	161	195	1	661	Chain	ID=PRO_0000152558;Note=Pseudouridylate synthase 7 homolog
Q96PZ0	508	542	1	661	Chain	ID=PRO_0000152558;Note=Pseudouridylate synthase 7 homolog
Q96PZ0	508	542	370	580	Domain	Note=TRUD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00342
Q96PZ0	508	542	370	580	Domain	Note=TRUD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00342
Q96PZ0	161	195	166	177	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	161	195	166	177	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	161	195	192	195	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	161	195	192	195	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	307	349	310	315	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	307	349	310	315	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	307	349	316	319	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	307	349	316	319	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	307	349	321	333	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	307	349	321	333	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	307	349	342	351	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	307	349	342	351	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	508	542	510	513	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	508	542	510	513	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	508	542	516	518	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	508	542	516	518	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	508	542	519	521	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	508	542	519	521	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	508	542	524	526	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	508	542	524	526	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	508	542	527	531	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	508	542	527	531	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	508	542	533	535	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP
Q96PZ0	508	542	533	535	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5KKP

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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
HNSC	PUS7	2.63527815552909	0.000182808133786239
PRAD	PUS7	-2.66543066949093	1.37654470439417e-07
LIHC	PUS7	-1.36829994678179	2.71217975233539e-06
KIRP	PUS7	-1.2038507759478	3.54335643351078e-05
STAD	PUS7	-5.06074302410598	4.5965425670147e-06
THCA	PUS7	1.24773838519076	4.88626066707067e-07
KIRC	PUS7	-2.05534529680149	5.48040034437071e-11

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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
LUAD	PUS7	0.068539527	0.022753977

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with PUS7 (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
CHOL	Cell metabolism gene	PUS7	POLR1A	0.806161891	2.35E-11
COAD	Cell metabolism gene	PUS7	CCT6A	0.806696047	1.09E-76
COAD	Cell metabolism gene	PUS7	POLR1B	0.814003248	3.84E-79
COAD	CGC	PUS7	DDX10	0.80859673	2.57E-77
COAD	Epifactor	PUS7	ACTR3B	0.823581691	1.58E-82
COAD	Epifactor	PUS7	DNAJC2	0.839910311	8.46E-89
DLBC	Cell metabolism gene	PUS7	ACACA	0.810095947	3.08E-12
DLBC	Epifactor	PUS7	PARG	0.82211451	7.86E-13
DLBC	IUPHAR	PUS7	PRMT3	0.803863485	6.02E-12
DLBC	IUPHAR	PUS7	ACACA	0.810095947	3.08E-12
DLBC	TF	PUS7	PRMT3	0.803863485	6.02E-12
TGCT	Cell metabolism gene	PUS7	CCT6A	0.821678564	1.95E-39
TGCT	CGC	PUS7	RFWD3	0.815198715	2.33E-38
TGCT	TSG	PUS7	PTPN12	0.811575988	8.97E-38
TGCT	TSG	PUS7	XPO5	0.814318037	3.25E-38
UVM	Cell metabolism gene	PUS7	MTMR6	0.804210322	2.64E-19
UVM	Cell metabolism gene	PUS7	GNPNAT1	0.811026707	7.61E-20
UVM	Cell metabolism gene	PUS7	PPAT	0.81867726	1.77E-20
UVM	Cell metabolism gene	PUS7	HMGCS1	0.824617082	5.46E-21
UVM	Cell metabolism gene	PUS7	NUP107	0.826865146	3.45E-21
UVM	Cell metabolism gene	PUS7	NUP50	0.826872222	3.45E-21
UVM	Cell metabolism gene	PUS7	XPO1	0.828033256	2.71E-21
UVM	Cell metabolism gene	PUS7	DIS3	0.829291111	2.09E-21
UVM	Cell metabolism gene	PUS7	MED17	0.832712061	1.02E-21
UVM	Cell metabolism gene	PUS7	CCT2	0.843803944	8.75E-23
UVM	Cell metabolism gene	PUS7	SEH1L	0.849580478	2.26E-23
UVM	CGC	PUS7	PALB2	0.804495878	2.51E-19
UVM	CGC	PUS7	MSH2	0.811183198	7.39E-20
UVM	CGC	PUS7	EML4	0.815218156	3.46E-20
UVM	CGC	PUS7	CUL3	0.816820104	2.54E-20
UVM	CGC	PUS7	DDX10	0.819032654	1.65E-20
UVM	CGC	PUS7	BAZ1A	0.819153762	1.62E-20
UVM	CGC	PUS7	POT1	0.82138886	1.04E-20
UVM	CGC	PUS7	XPO1	0.828033256	2.71E-21
UVM	CGC	PUS7	PMS1	0.83179484	1.24E-21
UVM	Epifactor	PUS7	HAT1	0.805127816	2.24E-19
UVM	Epifactor	PUS7	PHF14	0.805808061	1.98E-19
UVM	Epifactor	PUS7	SIRT1	0.806817952	1.65E-19
UVM	Epifactor	PUS7	DNAJC2	0.81459735	3.89E-20
UVM	Epifactor	PUS7	CUL2	0.816032603	2.96E-20
UVM	Epifactor	PUS7	CUL3	0.816820104	2.54E-20
UVM	Epifactor	PUS7	BAZ1A	0.819153762	1.62E-20
UVM	Epifactor	PUS7	PARG	0.837659556	3.48E-22
UVM	Epifactor	PUS7	ZRANB3	0.839951961	2.10E-22
UVM	Epifactor	PUS7	DDX21	0.840851141	1.71E-22
UVM	Epifactor	PUS7	FAM175B	0.845640655	5.72E-23
UVM	IUPHAR	PUS7	HAT1	0.805127816	2.24E-19
UVM	IUPHAR	PUS7	SIRT1	0.806817952	1.65E-19
UVM	IUPHAR	PUS7	PPAT	0.81867726	1.77E-20
UVM	IUPHAR	PUS7	BAZ1A	0.819153762	1.62E-20
UVM	IUPHAR	PUS7	RIOK1	0.822298035	8.69E-21
UVM	IUPHAR	PUS7	HMGCS1	0.824617082	5.46E-21
UVM	IUPHAR	PUS7	XPO1	0.828033256	2.71E-21
UVM	IUPHAR	PUS7	SLC39A10	0.848952116	2.62E-23
UVM	IUPHAR	PUS7	PRMT3	0.852760221	1.05E-23
UVM	Kinase	PUS7	BAZ1A	0.819153762	1.62E-20
UVM	Kinase	PUS7	RIOK1	0.822298035	8.69E-21
UVM	TF	PUS7	ZNF28	0.801506367	4.26E-19
UVM	TF	PUS7	ZNF675	0.802043649	3.88E-19
UVM	TF	PUS7	ZNF138	0.803100466	3.21E-19
UVM	TF	PUS7	ZNF800	0.80311486	3.21E-19
UVM	TF	PUS7	ZNF383	0.804910697	2.33E-19
UVM	TF	PUS7	ZNF430	0.805921332	1.94E-19
UVM	TF	PUS7	ZNF234	0.807089654	1.57E-19
UVM	TF	PUS7	ZNF791	0.807422116	1.48E-19
UVM	TF	PUS7	ZNF320	0.807894526	1.36E-19
UVM	TF	PUS7	AHCTF1	0.813306052	4.97E-20
UVM	TF	PUS7	PURB	0.830059101	1.78E-21
UVM	TF	PUS7	ZNF146	0.843933087	8.50E-23
UVM	TF	PUS7	CEBPZ	0.844350286	7.72E-23
UVM	TF	PUS7	PRMT3	0.852760221	1.05E-23
UVM	TF	PUS7	ZC3H8	0.853630617	8.45E-24
UVM	TF	PUS7	ZNF131	0.853711048	8.28E-24
UVM	TSG	PUS7	SMCHD1	0.804413957	2.54E-19
UVM	TSG	PUS7	PALB2	0.804495878	2.51E-19
UVM	TSG	PUS7	LIN9	0.806640069	1.70E-19
UVM	TSG	PUS7	SIRT1	0.806817952	1.65E-19
UVM	TSG	PUS7	MSH2	0.811183198	7.39E-20
UVM	TSG	PUS7	CUL2	0.816032603	2.96E-20
UVM	TSG	PUS7	KRIT1	0.820873275	1.15E-20
UVM	TSG	PUS7	GTPBP4	0.831507656	1.31E-21
UVM	TSG	PUS7	RINT1	0.857808337	2.97E-24

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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
KICH	PUS7	WDR12	1.27437010311891	0.000631332397460937
ESCA	PUS7	RPUSD2	-1.16853040122644	0.0009765625
STAD	PUS7	RPUSD2	-1.32438773088616	0.00192895717918873
ESCA	PUS7	WDR12	-4.50085604434153	0.001953125
CHOL	PUS7	DKC1	-6.50407764894012	0.00390625
CHOL	PUS7	FTSJ1	-3.25220415659806	0.00390625
CHOL	PUS7	PUS3	-3.41130041191418	0.00390625
COAD	PUS7	RPUSD2	1.27685131418548	0.00513318181037904
LIHC	PUS7	TRUB1	1.79144881657443	0.0145948420856469
COAD	PUS7	TRUB1	1.47462018483314	0.0176135301589966
BLCA	PUS7	NSUN2	-2.51121902266229	0.0180816650390625
BLCA	PUS7	TRUB1	-1.49304395729191	0.0180816650390625
HNSC	PUS7	PUS3	-2.56105411773463	0.049041343804447
KIRP	PUS7	NOP2	-2.37716112616425	1.33963571500536e-06
KICH	PUS7	NSUN2	-2.58200515291966	1.50799751281738e-05
LUAD	PUS7	NOP2	-2.13082564857828	1.55042044095848e-09
LUAD	PUS7	PUS1	-2.33149816249926	1.55042044095848e-09
HNSC	PUS7	DKC1	2.50432079402404	1.62206470122328e-06
BRCA	PUS7	NOP2	-2.05576655678149	1.65750353866924e-13
KICH	PUS7	PUS1	-1.07830972491459	1.82986259460449e-05
LIHC	PUS7	WDR12	-3.16467679630325	2.54824448841554e-08
LUAD	PUS7	LSG1	-2.26390863957415	2.83612198579349e-08
PRAD	PUS7	DKC1	-4.24738647635683	2.99790840508272e-08
BRCA	PUS7	FTSJ1	-2.30401801932705	3.67157769892739e-21
LIHC	PUS7	NOP2	-1.54502717645883	3.75678762034075e-05
PRAD	PUS7	NOP2	-1.36514441550332	4.21699092476427e-07
PRAD	PUS7	PUS3	1.94403622525319	4.21699092476427e-07
PRAD	PUS7	NSUN2	-2.36603815702603	4.53339406712827e-08
STAD	PUS7	LSG1	-1.59961050160694	5.8719888329506e-07
KIRC	PUS7	TRUB1	-1.62387546288001	6.5884022199001e-10
STAD	PUS7	WDR12	-2.46721337744962	6.79492950439454e-06
HNSC	PUS7	FTSJ1	1.44084557286369	7.51780044083718e-06
KIRP	PUS7	PUS1	-4.4419119304275	8.84756445884705e-09

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

PPI interactors with PUS7

ELAVL1, WDR74, SIRT1, HSPH1, DPYSL2, HSPA4L, IDE, STAT3, UBC, THUMPD1, ACOT13, ACTN4, BYSL, DDX3X, DHX15, DHX16, DOHH, EIF4G1, EIF4G3, ENOPH1, MCM3, MCM5, NHP2L1, NOC3L, NSUN2, POLR2D, POLR2G, ACTR6, CTPS1, ENO1, ENO2, ENO3, FBL, GAR1, GBF1, NMD3, RBM8A, SSB, TJP2, NTRK1, EWSR1, CXXC4, FGB, TRIM25, EFTUD2, FLT3, HIST1H3A, ACTC1, APEX1, DUSP5, CLUAP1, BRD4, DNAJB1, CBX3, HIST1H2BG, LMNA, TERF2IP, ZNF330, NAA40, FTL, S100P, S100B, PIPSL, APOBEC3C, S100A6, JUNB, PTGES2, ZNF174, SPRTN, GPAT2, KIAA1279, ARHGAP44, CBWD1, UNC45A, ACRBP, IQGAP3, ZNF444, LUC7L2, BBS1, ANAPC16, RABGGTA, CCM2, ANKRD49, ATP2A3, RAD17, PHKA2, PEX1, SYT6, ATP6V0A1, RHOD, PRKCSH, ZBTB2, SUV39H2, AHR, AGPAT3, TMEM51, TYW3, POLR3K, RYBP, MND1, GATAD2A, DOK4, HAUS7, KDM4B, PPP4R2, ERF, STRN3, DNAJC8, ATP5F1, MILR1, SMAD4, MED17, CES2, ACTR3B, CAB39L, DMAP1, CLPB, ERRFI1, TAGAP, TBC1D9, REG3A, EP300, SF1,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
PUS7	chr7	105098288	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PUS7	chr7	105099689	TC	T	Deletion	Pathogenic	See_cases	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
PUS7	chr7	105108802	C	A	single_nucleotide_variant	Pathogenic	Intellectual_developmental_disorder_with_abnormal_behavior,_microcephaly,_and_short_stature	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PUS7	chr7	105111144	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
PUS7	chr7	105111146	CAG	C	Microsatellite	Likely_pathogenic	Intellectual_developmental_disorder_with_abnormal_behavior,_microcephaly,_and_short_stature	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
PUS7	chr7	105111185	G	A	single_nucleotide_variant	Pathogenic	Intellectual_developmental_disorder_with_abnormal_behavior,_microcephaly,_and_short_stature	SO:0001587\|nonsense	SO:0001587\|nonsense
PUS7	chr7	105121514	G	A	single_nucleotide_variant	Uncertain_significance	Intellectual_developmental_disorder_with_abnormal_behavior,_microcephaly,_and_short_stature\|Inborn_genetic_diseases	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PUS7	chr7	105121519	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
PUS7	chr7	105121553	T	A	single_nucleotide_variant	Uncertain_significance	Intellectual_developmental_disorder_with_abnormal_behavior,_microcephaly,_and_short_stature	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PUS7	chr7	105122891	TA	T	Deletion	Benign	Intellectual_developmental_disorder_with_abnormal_behavior,_microcephaly,_and_short_stature\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PUS7	chr7	105135545	T	C	single_nucleotide_variant	Benign	Intellectual_developmental_disorder_with_abnormal_behavior,_microcephaly,_and_short_stature	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PUS7	chr7	105135670	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PUS7	chr7	105142955	CAG	C	Microsatellite	Likely_pathogenic	Intellectual_developmental_disorder_with_abnormal_behavior,_microcephaly,_and_short_stature	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
PUS7	chr7	105146359	C	G	single_nucleotide_variant	Benign	Intellectual_developmental_disorder_with_abnormal_behavior,_microcephaly,_and_short_stature	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PUS7	chr7	105146593	A	AT	Duplication	Benign	Intellectual_developmental_disorder_with_abnormal_behavior,_microcephaly,_and_short_stature	SO:0001627\|intron_variant	SO:0001627\|intron_variant
PUS7	chr7	105146635	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
PUS7	chr7	105146713	C	T	single_nucleotide_variant	Uncertain_significance	Intellectual_developmental_disorder_with_abnormal_behavior,_microcephaly,_and_short_stature\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PUS7	chr7	105148561	C	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Intellectual_developmental_disorder_with_abnormal_behavior,_microcephaly,_and_short_stature\|Inborn_genetic_diseases	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
PUS7	chr7	105148627	CTCAG	C	Deletion	Pathogenic	Intellectual_developmental_disorder_with_abnormal_behavior,_microcephaly,_and_short_stature	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
PUS7	chr7	105148650	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
PUS7	chr7	105148660	ACT	A	Microsatellite	Likely_pathogenic	Intellectual_developmental_disorder_with_abnormal_behavior,_microcephaly,_and_short_stature	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
PUS7	chr7	105148859	TTC	T	Deletion	Likely_pathogenic	Intellectual_developmental_disorder_with_abnormal_behavior,_microcephaly,_and_short_stature	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
PUS7	chr7	105148869	TTG	T	Deletion	Pathogenic	Intellectual_developmental_disorder_with_abnormal_behavior,_microcephaly,_and_short_stature	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant

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
PUS7	LIHC	chr7	105148864	105148864	T	-	Frame_Shift_Del	p.K32fs	4
PUS7	READ	chr7	105105785	105105785	G	A	Silent	p.F534F	4
PUS7	BLCA	chr7	105098242	105098242	G	A	Missense_Mutation	p.R661C	4
PUS7	STAD	chr7	105148864	105148864	T	-	Frame_Shift_Del	p.Q33fs	4
PUS7	UCEC	chr7	105103129	105103129	G	A	Nonsense_Mutation	p.R566*	4
PUS7	KIRP	chr7	105099624	105099624	A	G	Missense_Mutation	p.F614L	3
PUS7	LIHC	chr7	105121549	105121549	A	G	Silent	p.Y375Y	3
PUS7	LUAD	chr7	105108805	105108805	C	T	Missense_Mutation	p.G502R	3
PUS7	CESC	chr7	105121625	105121625	C	G	Splice_Site		3
PUS7	UCEC	chr7	105142928	105142929	CT	-	Frame_Shift_Del	p.E223fs	3
PUS7	HNSC	chr7	105098338	105098338	G	C	Missense_Mutation	p.L629V	3
PUS7	LIHC	chr7	105121549	105121549	A	G	Silent		3
PUS7	KIRC	chr7	105122810	105122810	T	-	Frame_Shift_Del	p.N333fs	3
PUS7	CESC	chr7	105148719	105148719	C	G	Missense_Mutation		2
PUS7	SARC	chr7	105142968	105142968	G	C	Missense_Mutation	p.A210G	2
PUS7	UCEC	chr7	105111266	105111266	C	A	Nonsense_Mutation	p.E423*	2
PUS7	LUAD	chr7	105146454	105146454	C	A	Missense_Mutation	p.R178L	2
PUS7	CESC	chr7	105103125	105103125	T	C	Missense_Mutation		2
PUS7	SKCM	chr7	105099683	105099683	G	A	Missense_Mutation	p.P594L	2
PUS7	UCEC	chr7	105112623	105112623	G	T	Missense_Mutation	p.S398Y	2
PUS7	LIHC	chr7	105099618	105099618	A	-	Frame_Shift_Del	p.S616fs	2
PUS7	STAD	chr7	105148680	105148680	C	T	Missense_Mutation	p.E94K	2
PUS7	SKCM	chr7	105148645	105148645	C	T	Missense_Mutation	p.M105I	2
PUS7	UCEC	chr7	105122872	105122872	T	G	Missense_Mutation	p.R312S	2
PUS7	LIHC	chr7	105142878	105142878	T	-	Frame_Shift_Del	p.K240fs	2
PUS7	LGG	chr7	105098346	105098346	T	A	Missense_Mutation	p.D626V	2
PUS7	SKCM	chr7	105135651	105135651	G	A	Silent	p.F260F	2
PUS7	UCEC	chr7	105146713	105146713	C	T	Missense_Mutation	p.D136N	2
PUS7	LUAD	chr7	105142882	105142882	T	C	Missense_Mutation	p.K239E	2
PUS7	BLCA	chr7	105112641	105112641	C	T	Splice_Site		2
PUS7	HNSC	chr7	105146708	105146708	G	A	Silent	p.F137F	2
PUS7	SKCM	chr7	105142951	105142951	G	A	Missense_Mutation	p.P216S	2
PUS7	BLCA	chr7	105111175	105111175	G	C	Nonsense_Mutation	p.S453*	2
PUS7	SKCM	chr7	105098310	105098310	G	A	Missense_Mutation	p.A638V	2
PUS7	STAD	chr7	105121515	105121515	T	C	Missense_Mutation	p.T387A	2
PUS7	ESCA	chr7	105111289	105111289	T	C	Missense_Mutation	p.K415R	2
PUS7	UCEC	chr7	105103124	105103124	A	C	Missense_Mutation	p.D567E	2
PUS7	LGG	chr7	105098346	105098346	T	A	Missense_Mutation		2
PUS7	ESCA	chr7	105142884	105142884	C	T	Missense_Mutation		2
PUS7	HNSC	chr7	105099648	105099648	G	A	Silent	p.L606L	2
PUS7	SARC	chr7	105108894	105108894	C	T	Missense_Mutation		2
PUS7	LUAD	chr7	105146653	105146653	T	A	Missense_Mutation	p.I156F	2
PUS7	STAD	chr7	105108874	105108874	A	G	Missense_Mutation	p.Y479H	2
PUS7	HNSC	chr7	105111200	105111200	C	A	Nonsense_Mutation	p.E445*	2
PUS7	SARC	chr7	105142968	105142968	G	C	Missense_Mutation		2
PUS7	UCEC	chr7	105105784	105105784	C	T	Missense_Mutation	p.D535N	2
PUS7	ESCA	chr7	105142884	105142884	C	T	Missense_Mutation	p.G238E	2
PUS7	TGCT	chr7	105105799	105105799	G	A	Missense_Mutation		2
PUS7	UCEC	chr7	105105797	105105797	G	T	Silent	p.P530	2
PUS7	LUAD	chr7	105148818	105148818	G	A	Nonsense_Mutation	p.Q48*	2
PUS7	STAD	chr7	105111264	105111264	T	G	Missense_Mutation	p.E423D	2
PUS7	TGCT	chr7	105105799	105105799	G	A	Missense_Mutation	p.P530S	2
PUS7	UCEC	chr7	105111236	105111236	C	T	Missense_Mutation	p.A433T	2
PUS7	COAD	chr7	105105846	105105846	A	G	Missense_Mutation	p.I514T	1
PUS7	LIHC	chr7	105098324	105098326	AGT	-	In_Frame_Del	p.633_634del	1
PUS7	LUAD	chr7	105148701	105148701	C	A	Missense_Mutation	p.D87Y	1
PUS7	SKCM	chr7	105108813	105108813	G	A	Missense_Mutation	p.P499L	1
PUS7	BLCA	chr7	105148663	105148663	C	G	Missense_Mutation		1
PUS7	GBM	chr7	105103129	105103129	G	A	Missense_Mutation		1
PUS7	PAAD	chr7	105146432	105146432	G	T	Missense_Mutation		1
PUS7	STAD	chr7	105111185	105111185	G	A	Nonsense_Mutation	p.R450X	1
PUS7	TGCT	chr7	105098245	105098245	G	A	Missense_Mutation		1
PUS7	COAD	chr7	105111209	105111209	T	-	Frame_Shift_Del	p.R442fs	1
PUS7	SKCM	chr7	105108814	105108814	G	A	Missense_Mutation	p.P499S	1
PUS7	BLCA	chr7	105122848	105122848	C	G	Missense_Mutation		1
PUS7	HNSC	chr7	105099648	105099648	G	A	Silent		1
PUS7	PRAD	chr7	105148785	105148785	G	A	Missense_Mutation	p.P59S	1
PUS7	STAD	chr7	105135657	105135657	G	T	Nonsense_Mutation	p.C258X	1
PUS7	KIRP	chr7	105099624	105099624	A	G	Missense_Mutation	p.F620L	1
PUS7	THYM	chr7	105103167	105103167	G	T	Missense_Mutation	p.A553D	1
PUS7	COAD	chr7	105111289	105111289	T	-	Frame_Shift_Del	p.K415fs	1
PUS7	LUAD	chr7	105148651	105148651	G	C	Missense_Mutation	p.D103E	1
PUS7	SKCM	chr7	105112607	105112607	C	T	Missense_Mutation	p.M403I	1
PUS7	BLCA	chr7	105103087	105103087	G	T	Missense_Mutation		1
PUS7	HNSC	chr7	105098338	105098338	G	C	Missense_Mutation		1
PUS7	PRAD	chr7	105146679	105146679	C	T	Missense_Mutation	p.R147Q	1
PUS7	CESC	chr7	105099617	105099617	G	T	Missense_Mutation		1
PUS7	KIRP	chr7	105099624	105099624	A	G	Missense_Mutation		1
PUS7	THYM	chr7	105111139	105111139	C	T	Missense_Mutation	p.G465D	1
PUS7	COAD	chr7	105098353	105098353	T	C	Missense_Mutation	p.K624E	1
PUS7	SKCM	chr7	105103165	105103165	C	T	Missense_Mutation	p.D554N	1
PUS7	BLCA	chr7	105148620	105148620	C	T	Missense_Mutation		1
PUS7	HNSC	chr7	105148734	105148734	C	A	Missense_Mutation		1
PUS7	READ	chr7	105111266	105111266	C	A	Nonsense_Mutation	p.E423X	1
PUS7	STAD	chr7	105148756	105148756	C	T	Silent	p.G68G	1
PUS7	UCEC	chr7	105098310	105098310	G	T	Missense_Mutation	p.A644D	1
PUS7	COAD	chr7	105148649	105148649	A	G	Missense_Mutation	p.M104T	1
PUS7	SKCM	chr7	105121519	105121519	G	A	Silent	p.V385V	1
PUS7	READ	chr7	105143005	105143005	C	T	Missense_Mutation	p.E198K	1
PUS7	STAD	chr7	105135657	105135657	G	T	Nonsense_Mutation	p.C258*	1
PUS7	CESC	chr7	105103125	105103125	T	C	Missense_Mutation	p.D567G	1
PUS7	LGG	chr7	105148879	105148879	A	G	Silent	p.V27V	1
PUS7	DLBC	chr7	105148683	105148683	A	G	Missense_Mutation	p.C93R	1
PUS7	LIHC	chr7	105146447	105146447	T	C	Silent		1
PUS7	LUAD	chr7	105111238	105111239	-	A	Frame_Shift_Ins	p.C432fs	1
PUS7	SKCM	chr7	105135679	105135679	G	A	Missense_Mutation	p.P251L	1
PUS7	HNSC	chr7	105148734	105148734	C	A	Missense_Mutation	p.A76S	1
PUS7	STAD	chr7	105111185	105111185	G	A	Nonsense_Mutation	p.R450*	1
PUS7	CESC	chr7	105148719	105148719	C	G	Missense_Mutation	p.E81Q	1
PUS7	LGG	chr7	105148912	105148912	C	A	Silent	p.L16L	1
PUS7	LUAD	chr7	105111238	105111239	-	A	Frame_Shift_Ins	p.T432fs	1
PUS7	READ	chr7	105131992	105131992	A	C	Silent	p.V305V	1
PUS7	STAD	chr7	105108843	105108843	C	T	Missense_Mutation	p.S489N	1
PUS7	COAD	chr7	105098264	105098264	C	T	Silent	p.T653T	1
PUS7	LUAD	chr7	105099703	105099703	T	G	Missense_Mutation	p.E587D	1
PUS7	SKCM	chr7	105098305	105098305	G	A	Nonsense_Mutation	p.R640*	1
PUS7	LUSC	chr7	105099694	105099694	T	C	Silent	p.A596A	1
PUS7	BLCA	chr7	105142964	105142964	G	A	Silent	p.I211I	1
PUS7	STAD	chr7	105122810	105122810	T	-	Frame_Shift_Del	p.N339fs	1
PUS7	COAD	chr7	105098320	105098320	C	T	Missense_Mutation	p.A635T	1
PUS7	LGG	chr7	105148879	105148879	A	G	Silent		1
PUS7	SKCM	chr7	105148566	105148566	C	T	Missense_Mutation	p.E132K	1
PUS7	LUSC	chr7	105098242	105098242	G	A	Missense_Mutation	p.R667C	1
PUS7	ACC	chr7	105122864	105122864	T	G	Missense_Mutation	p.H315P	1
PUS7	ESCA	chr7	105105766	105105766	G	T	Missense_Mutation	p.H541N	1
PUS7	BLCA	chr7	105148663	105148663	C	G	Missense_Mutation	p.E99D	1
PUS7	STAD	chr7	105148917	105148918	-	C	Frame_Shift_Ins	p.A15fs	1
PUS7	COAD	chr7	105103129	105103129	G	A	Nonsense_Mutation	p.R566X	1
PUS7	LUAD	chr7	105108839	105108839	C	G	Missense_Mutation	p.K490N	1
PUS7	SKCM	chr7	105103118	105103118	G	A	Silent	p.S569S	1
PUS7	LUSC	chr7	105148856	105148856	A	G	Missense_Mutation	p.L35P	1
PUS7	STAD	chr7	105148916	105148917	-	C	Frame_Shift_Ins	p.A15fs	1
PUS7	BLCA	chr7	105098242	105098242	G	A	Missense_Mutation		1
PUS7	BLCA	chr7	105122848	105122848	C	G	Missense_Mutation	p.L320F	1
PUS7	SARC	chr7	105098240	105098240	G	T	Silent		1
PUS7	COAD	chr7	105105769	105105769	T	G	Missense_Mutation	p.K540Q	1
PUS7	LIHC	chr7	105098271	105098271	T	C	Missense_Mutation		1
PUS7	SKCM	chr7	105122873	105122873	C	T	Missense_Mutation	p.R312K	1
PUS7	GBM	chr7	105111170	105111170	A	C	Missense_Mutation	p.Y461D	1
PUS7	LUSC	chr7	105108864	105108872	TAGCTTTGG	-	In_Frame_Del	p.485_488YQSY>Y	1
PUS7	BLCA	chr7	105142964	105142964	G	A	Silent		1
PUS7	BLCA	chr7	105148620	105148620	C	T	Missense_Mutation	p.V114I	1
PUS7	KIRC	chr7	105111238	105111238	G	A	Missense_Mutation	p.T432I	1
PUS7	SARC	chr7	105108894	105108894	C	T	Missense_Mutation	p.R472H	1

Copy number variation (CNV) of PUS7
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across PUS7
* 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
99959	N/A	AX340753	FAM174B	chr15	93240640	-	PUS7	chr7	105097003	+
99959	N/A	BP429699	H1FX	chr3	129034345	-	PUS7	chr7	105162463	+
99959	N/A	AW022130	IGFBP7	chr4	57897320	-	PUS7	chr7	105130546	+
99959	HNSC	TCGA-BA-6868	LAMB1	chr7	107626466	-	PUS7	chr7	105098373	-
99959	HNSC	TCGA-BA-6868-01B	LAMB1	chr7	107626467	-	PUS7	chr7	105098373	-
86497	BRCA	TCGA-E2-A1LE-01A	PUS7	chr7	105162499	-	EFCAB10	chr7	105210018	-
77989	STAD	TCGA-CD-5800	PUS7	chr7	105162498	-	FGFR1OP	chr6	167435896	+
94894	N/A	CF145547	PUS7	chr7	105151875	-	MAX	chr14	65543075	-
91495	ESCA	TCGA-IG-A51D	PUS7	chr7	105103068	-	SRPK2	chr7	104755950	-
91495	ESCA	TCGA-IG-A51D	PUS7	chr7	105105760	-	SRPK2	chr7	104755950	-
98795	N/A	EC583104	PUS7	chr7	105087390	+	WBP1L	chr10	104520694	+
99959	Non-Cancer	ERR188081	SRPK2	chr7	104766229	-	PUS7	chr7	105148991	-
99959	Non-Cancer	ERR188081	SRPK2	chr7	104766695	-	PUS7	chr7	105148991	-
99967	N/A	CD643435	YEATS2	chr3	183516775	+	PUS7	chr7	105100738	-

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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
TGCT	PUS7	0.000213522267204204	0.006
LUSC	PUS7	0.00156087644848988	0.042
KIRP	PUS7	0.00762969554664692	0.2
LUAD	PUS7	0.0423856811557612	1

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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
TGCT	PUS7	0.0457308210152457	1
LUSC	PUS7	0.0295681286125123	0.8
KIRC	PUS7	0.0363527902690587	0.95
KIRP	PUS7	0.0256580428624714	0.72
LGG	PUS7	0.00137351608110665	0.045
LAML	PUS7	0.00463321436948917	0.14
BRCA	PUS7	0.0204174864096871	0.61
ESCA	PUS7	0.00352036623226166	0.11
SARC	PUS7	0.0233810340395135	0.68

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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

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Related Diseases

Diseases associated with this translation factor.
(DisGeNet 4.0)

Disease ID	Disease Name	# PubMeds	Disease source
C0013336	Dwarfism	1	GENOMICS_ENGLAND
C0025958	Microcephaly	1	GENOMICS_ENGLAND