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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: RPL5 (NCBI Gene ID:6125)

Gene Summary

Gene Summary

Gene Information	Gene Name: RPL5
	Gene ID: 6125
	Gene Symbol	RPL5
	Gene ID	6125
	Gene Name	ribosomal protein L5
	Synonyms	L5\|MSTP030\|PPP1R135\|uL18
	Cytomap	1p22.1
	Type of Gene	protein-coding
	Description	60S ribosomal protein L5large ribosomal subunit protein uL18protein phosphatase 1, regulatory subunit 135
	Modification date	20200313
	UniProtAcc	P46777

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

GO ID	GO term
GO:0006417	Regulation of translation
GO:0005840	Ribosome
GO:0045727	Positive regulation of translation
GO:0002181	Cytoplasmic 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	RPL5	GO:0010628	positive regulation of gene expression	18560357
Hgene	RPL5	GO:0045727	positive regulation of translation	16213212
Hgene	RPL5	GO:1904667	negative regulation of ubiquitin protein ligase activity	18560357
Hgene	RPL5	GO:2000059	negative regulation of ubiquitin-dependent protein catabolic process	18560357
Hgene	RPL5	GO:2000435	negative regulation of protein neddylation	18560357

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
RPL5	>1119.25

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Translation Studies in PubMed

We searched PubMed using 'RPL5[title] AND translation [title] AND human.'

Gene	Title	PMID
RPL5	Loss of tumor suppressor RPL5/RPL11 does not induce cell cycle arrest but impedes proliferation due to reduced ribosome content and translation capacity	24061479

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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
ENST00000370321	93300335	93300470	In-frame
ENST00000370321	93301746	93301949	Frame-shift
ENST00000370321	93303012	93303190	Frame-shift
ENST00000370321	93306107	93306196	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)
ENST00000370321	93300335	93300470	1060	280	414	297	63	108

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.
P46777	63	108	2	297	Chain	ID=PRO_0000131431;Note=60S ribosomal protein L5
P46777	63	108	78	78	Sequence conflict	Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305

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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
BLCA	RPL5	-3.50581551367555	0.00026702880859375
STAD	RPL5	2.24361928856279	0.000433447770774365
KICH	RPL5	1.79380241489629	0.0219083428382874

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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
LIHC	RPL5	1	2	0.0224871478153434	0.16761375	0.263648716381418	-0.48198551111999	-0.237064643149311

Translation factor expression regulation through copy number variation of Translation factor

Cancer type	Gene	Coefficient	Pvalue
MESO	RPL5	0.057597338	0.020926892
HNSC	RPL5	0.06176785	0.034376279

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with RPL5 (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	CGC	RPL5	NACA	0.817349604	7.39E-12
CHOL	Epifactor	RPL5	DNTTIP2	0.809879168	1.61E-11
DLBC	CGC	RPL5	NACA	0.858659124	6.01E-15
DLBC	TSG	RPL5	GNB2L1	0.860979739	4.22E-15
DLBC	TSG	RPL5	GAS5	0.875080584	4.22E-16
GBM	Cell metabolism gene	RPL5	PIGC	0.803679014	3.59E-40
GBM	Cell metabolism gene	RPL5	CCT4	0.804210445	2.92E-40
GBM	Cell metabolism gene	RPL5	SSR2	0.822097796	1.92E-43
GBM	TSG	RPL5	GAS5	0.869776288	4.97E-54
LAML	CGC	RPL5	NACA	0.854137444	1.98E-50
PCPG	TSG	RPL5	GNB2L1	0.812564172	3.07E-45
PRAD	CGC	RPL5	NACA	0.821506369	8.32E-136
PRAD	TSG	RPL5	GNB2L1	0.819393702	1.52E-134
THCA	CGC	RPL5	NACA	0.802900412	3.60E-130
THYM	TSG	RPL5	GNB2L1	0.814535491	3.72E-30
UCEC	CGC	RPL5	NACA	0.802754358	1.46E-46
UCS	TSG	RPL5	GNB2L1	0.814535491	3.72E-30
UVM	Epifactor	RPL5	NAP1L1	0.813944343	4.40E-20

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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
KIRP	RPL5	RPL18A	-1.51651392808885	0.00016188295558095
KICH	RPL5	RPS27A	1.75396693785956	0.000187873840332031
KIRP	RPL5	RPS16	-1.35957043617517	0.00019507110118866
KIRP	RPL5	RPS11	-1.01861570565103	0.00105937570333481
LIHC	RPL5	RPL8	-4.84588284974558	0.00110314154326131
PRAD	RPL5	RPL18A	1.40600175748499	0.00205137828390396
KICH	RPL5	RPL19	1.36901182894089	0.00250792503356934
KICH	RPL5	RPS12	1.26997381758431	0.00308787822723389
LIHC	RPL5	MDM2	-1.57082310333019	0.00323738381247511
STAD	RPL5	RSL24D1	1.2514796224648	0.00647870777174831
LUAD	RPL5	RPL19	-1.31398026615725	0.00993159558412698
THCA	RPL5	RPS16	-6.16322798156577	0.0115764821363307
STAD	RPL5	MDM2	-1.99312650485559	0.0132303284481168
BLCA	RPL5	RPS12	-1.47804673440421	0.0204124450683594
BLCA	RPL5	RPS27A	-1.04747470069188	0.0258216857910156
COAD	RPL5	RPS11	1.35307548998204	0.0312207043170929
UCEC	RPL5	RSL24D1	-2.84239238228567	0.03125
CHOL	RPL5	RSL24D1	-4.00898677195008	0.0390625
LUSC	RPL5	RPL19	-2.14669889516666	0.044366810398747
KIRC	RPL5	RPL19	-2.73485271276676	1.33980982873695e-10
BRCA	RPL5	RSL24D1	-3.24064965161136	1.7323703104255e-11
BRCA	RPL5	RPS12	-4.91239327478244	1.85340619742495e-09
KIRC	RPL5	RPL35	-1.06475238059392	2.72286325678163e-08
KIRC	RPL5	RPL8	-1.18252459971773	5.64962994208288e-07
KIRP	RPL5	RPL8	-1.53003692350119	6.0301274061203e-05
KIRC	RPL5	RPS16	-1.66149869889384	7.8509870430991e-09
BRCA	RPL5	RPS27A	-4.28512148200424	7.8788217967112e-14
KIRP	RPL5	RPL35	-1.52981101975496	9.0546440333128e-05
KIRC	RPL5	RPL18A	-4.43079304960843	9.2516163152192e-11

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

PPI interactors with RPL5

EIF5A, CSNK2B, MDM2, CSNK2A1, IPO13, PDCD4, AMFR, RRP1B, Rrp1b, RPL23, RPL11, TP53, DCC, HDAC5, NOP56, MTOR, SURF2, TSC22D1, RAD21, SIRT7, HIST3H2BB, SPP1, CUL3, CUL5, CUL2, CUL1, COPS5, CAND1, NEDD8, RPL7, RPS23, RPS3A, RPS4X, RPS6, RPSA, RPLP0, RPL10A, RPL12, RPL13, RPL14, RPL15, RPL18A, RPL18, RPL19, RPL21, RPL23A, RPL24, RPL27A, RPL30, RPL31, RPL37A, RPL3, RPL4, RPL6, RPL7A, RPL8, RPL9, RPS11, RPS13, RPS15A, RPS16, RPS19, RPS28, RPS2, RPS3, RPS5, RPS7, RPS8, RPLP2, RPS24, RPS12, RPS17, RPS20, RPS14, RPS26, RPS25, RPL22, EEF2, RPL36, RPL10, RPS9, RPS10, RPL38, RPL17, RPL29, RPL32, RPS21, RPS27A, EEF1A1, FAU, FBL, NCL, BRIX1, NOP58, RBM28, EIF6, EEF1G, NHP2L1, MYBBP1A, ILF2, HNRNPU, GNL3, DDX21, ILF3, SLC25A5, NAP1L1, HNRNPM, TUBA1A, EBNA1BP2, DHX9, NOLC1, NOP2, RRP12, PABPC1, SSR3, RPLP0P6, RPL10L, RPS10P5, NIFK, RRS1, RPS27L, TUBA1B, VASN, CLINT1, HSP90AA5P, GNL1, HSP90AA1, HP1BP3, ARL6IP5, PSMB1, FTSJ3, PRPF4B, IPO4, ESR1, NPM1, CBX5, RPL5, HSP90AB1, FN1, VCAM1, NOS2, UBL4A, ITGA4, PAN2, CD81, IGSF8, ICAM1, UPF2, VHL, FBXO6, TARDBP, LGR4, STAU1, CEP250, HAUS2, TUBG1, HUWE1, PML, OBSL1, CCDC8, UBC, FBXW11, DHX8, RBM4B, ZNF707, ATP6V0D1, DDX24, GNB2L1, NSA2, PABPC4, PWP1, RPL27, RPL28, RPL35, RPL3L, CDC27, DDX18, DDX27, DDX56, MRTO4, NAT10, RPF1, RPL13A, RPL26, RPL26L1, RPL34, RPL35A, RPS15, LOC101929876, SLC1A2, VAPA, RPLP1, RPS18, RPS27, SEC61A1, XRN1, NTRK1, RNA5S7, CLK1, XPO1, KIF2C, Eif3a, Eif3e, Osgep, Rpl35, Rrbp1, TP73, MCM2, ZNF746, DUSP5, ZNF512, KIAA0020, MAK16, ZBTB48, RBM34, CNBP, MAGEB10, ZRSR2, GLTSCR2, MECP2, IGHMBP2, RBM4, FMR1NB, KNOP1, PLEKHO1, SNIP1, CYLD, FOXA1, TRIM25, BRCA1, LMNA, MTF1, CFTR, MRPL22, SNAPC1, TAF2, ACO2, HBP1, TMPO, PPP1CC, PPP6C, BMP4, GSK3A, KRAS, PCBP1, YAF2, UBE2M, PRPF8, EFTUD2, AAR2, PIH1D1, RNF4, CHD3, CHD4, TNF, RIOK1, PRMT5, SRSF1, SPIN1, HEXIM1, MEPCE, LARP7, SNAI1, AGR2, RECQL4, REST, MYC, ATM, HIST1H3A, GRWD1, RC3H1, RC3H2, ATG16L1, PHB, FAF1, USP14, NR2C2, MTDH, CTCF, PRDM16, MECOM, VRK1, HIST1H4A, SNRNP70, Dppa3, PTPN21, PTPN6, ITFG1, ARAF, HMGB1, MARCKS, BIRC3, NFX1, WWP2, BRD7, Dnajc17, TRIM28, TEX101, CMTR1, ARIH2, PINK1, FANCD2, NGB, GRB10, M, ERCC6, NEK4, CIT, ANLN, AURKB, CHMP4B, CHMP4C, ECT2, KIF14, KIF20A, KIF23, PRC1, LRRC59, INS, NMRAL1, NDN, BRD4, NUPR1, PTEN, Apc2, RBM39, LGALS9, RIN3, DNAJC15, DNAJC16, DNAJC1, DNAJC25, DNAJC2, MKRN1, DDX58, OGT, PARK2, UFL1, DDRGK1, CD3EAP, COIL, LYN, PARP1, POLR1E, PTK2, ZNF330, TRIM37, HTRA4, WDR5, PAGE4, MAP4K3, MAP4K4, NUDCD2, NAA40, FGF13, SRP14, HEATR3, ZNF48, SRSF5, CBX6, FGFBP1, CCDC137, CCDC140, EPB41L2, PRKRA, ADARB1, PDCD11, ZNF467, NPM3, ZNF346, RRP9, MAGEB2, IL17B, RPL36AL, BTF3, FSCN1, FBXW7, BCAS2, KRT31, NLRP7, RCHY1, PDE4B, N, SIRT6,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
RPL5	chr1	93297557	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001619\|non-coding_transcript_variant	SO:0001619\|non-coding_transcript_variant
RPL5	chr1	93297598	C	A	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia_6	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RPL5	chr1	93297602	T	A	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia_6	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RPL5	chr1	93297608	C	G	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia_6	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RPL5	chr1	93297610	C	G	single_nucleotide_variant	Likely_benign	Diamond-Blackfan_anemia_6	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RPL5	chr1	93297614	G	T	single_nucleotide_variant	Benign	Diamond-Blackfan_anemia_6	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RPL5	chr1	93297617	C	G	single_nucleotide_variant	Benign	Diamond-Blackfan_anemia_6\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RPL5	chr1	93297620	C	G	single_nucleotide_variant	Benign	Diamond-Blackfan_anemia_6	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RPL5	chr1	93297624	G	A	single_nucleotide_variant	Benign	Diamond-Blackfan_anemia_6	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RPL5	chr1	93297626	C	A	single_nucleotide_variant	not_provided	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RPL5	chr1	93297626	C	G	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia_6	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RPL5	chr1	93297630	A	C	single_nucleotide_variant	Benign	Diamond-Blackfan_anemia_6	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RPL5	chr1	93297634	C	T	single_nucleotide_variant	Likely_benign	Diamond-Blackfan_anemia_6	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RPL5	chr1	93297654	C	A	single_nucleotide_variant	Benign	Diamond-Blackfan_anemia_6	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RPL5	chr1	93297666	C	T	single_nucleotide_variant	Likely_benign	Diamond-Blackfan_anemia_6\|not_specified	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RPL5	chr1	93297670	G	A	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia_6	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
RPL5	chr1	93297672	A	C	single_nucleotide_variant	Pathogenic	Diamond-Blackfan_anemia	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
RPL5	chr1	93297677	G	C	single_nucleotide_variant	Benign/Likely_benign	Diamond-Blackfan_anemia\|Diamond-Blackfan_anemia_1\|Diamond-Blackfan_anemia_6\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93297685	G	C	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia_6	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93297686	C	T	single_nucleotide_variant	Benign	Diamond-Blackfan_anemia_6	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93297687	C	T	single_nucleotide_variant	Benign	Diamond-Blackfan_anemia_6	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93298935	TTTTC	T	Deletion	Likely_pathogenic	Diamond-Blackfan_anemia	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93298936	T	A	single_nucleotide_variant	Likely_pathogenic	Diamond-Blackfan_anemia	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93298936	T	C	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia_6	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93298938	TC	T	Deletion	Likely_benign	Diamond-Blackfan_anemia	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93298947	GGTTT	G	Deletion	Pathogenic	Diamond-Blackfan_anemia	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93298954	T	TA	Duplication	Pathogenic	Diamond-Blackfan_anemia	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93298960	T	A	single_nucleotide_variant	Likely_benign	Diamond-Blackfan_anemia	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
RPL5	chr1	93298977	A	G	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93298981	TA	T	Deletion	Pathogenic	Inborn_genetic_diseases	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93298990	C	G	single_nucleotide_variant	Pathogenic	Diamond-Blackfan_anemia	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93299009	C	T	single_nucleotide_variant	Pathogenic	Diamond-Blackfan_anemia\|Diamond-Blackfan_anemia_6\|not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93299012	C	T	single_nucleotide_variant	Pathogenic	Diamond-Blackfan_anemia	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93299016	G	A	single_nucleotide_variant	Likely_pathogenic	Inborn_genetic_diseases	SO:0001575\|splice_donor_variant,SO:0001627\|intron_variant	SO:0001575\|splice_donor_variant,SO:0001627\|intron_variant
RPL5	chr1	93299017	T	G	single_nucleotide_variant	Pathogenic	Diamond-Blackfan_anemia_6	SO:0001575\|splice_donor_variant,SO:0001627\|intron_variant	SO:0001575\|splice_donor_variant,SO:0001627\|intron_variant
RPL5	chr1	93299101	G	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001574\|splice_acceptor_variant,SO:0001627\|intron_variant	SO:0001574\|splice_acceptor_variant,SO:0001627\|intron_variant
RPL5	chr1	93299101	G	C	single_nucleotide_variant	Pathogenic	Relative_macrocephaly\|Wide_anterior_fontanel\|Low-set,_posteriorly_rotated_ears\|Abnormality_of_the_pinna\|Downslanted_palpebral_fissures\|Hypotelorism\|Dry_skin\|Hemangioma\|Hepatomegaly\|Atrial_septal_defect\|Aplastic_anemia\|Pulmonary_arterial_hypertension\|Dilat	SO:0001574\|splice_acceptor_variant,SO:0001627\|intron_variant	SO:0001574\|splice_acceptor_variant,SO:0001627\|intron_variant
RPL5	chr1	93299131	C	T	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia\|Diamond-Blackfan_anemia_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93299146	G	A	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93299160	C	G	single_nucleotide_variant	Pathogenic	Diamond-Blackfan_anemia	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93299169	C	T	single_nucleotide_variant	Likely_benign	Diamond-Blackfan_anemia	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
RPL5	chr1	93299169	CAAAT	C	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93299180	TG	T	Deletion	Pathogenic	Diamond-Blackfan_anemia	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93299181	G	GAT	Duplication	Likely_pathogenic	Diamond-Blackfan_anemia_6	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93299183	T	TAGTTCGTGTGACA	Duplication	Pathogenic	Diamond-Blackfan_anemia	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93299184	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
RPL5	chr1	93299193	G	A	single_nucleotide_variant	Benign	Diamond-Blackfan_anemia\|Diamond-Blackfan_anemia_6\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
RPL5	chr1	93299193	GACAA	G	Deletion	Pathogenic	Diamond-Blackfan_anemia\|Diamond-Blackfan_anemia_1\|not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93299198	A	G	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93299199	CAG	C	Microsatellite	Pathogenic	Diamond-Blackfan_anemia\|Diamond-Blackfan_anemia_6	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93299215	C	T	single_nucleotide_variant	Pathogenic	Diamond-Blackfan_anemia	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93299219	T	G	single_nucleotide_variant	Likely_pathogenic	Diamond-Blackfan_anemia_6	SO:0001575\|splice_donor_variant,SO:0001627\|intron_variant	SO:0001575\|splice_donor_variant,SO:0001627\|intron_variant
RPL5	chr1	93299484	G	C	single_nucleotide_variant	risk_factor	Diamond-Blackfan_anemia_6	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93299505	A	G	single_nucleotide_variant			SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93299526	A	G	single_nucleotide_variant			SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93299581	G	A	single_nucleotide_variant			SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93299604	A	T	single_nucleotide_variant			SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93300328	TACTATA	T	Deletion	Conflicting_interpretations_of_pathogenicity	Diamond-Blackfan_anemia\|not_provided	SO:0001574\|splice_acceptor_variant,SO:0001627\|intron_variant	SO:0001574\|splice_acceptor_variant,SO:0001627\|intron_variant
RPL5	chr1	93300348	C	T	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93300374	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Diamond-Blackfan_anemia\|Diamond-Blackfan_anemia_6	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
RPL5	chr1	93300375	G	A	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93300377	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
RPL5	chr1	93300380	G	GT	Duplication	Pathogenic	Diamond-Blackfan_anemia_6	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93300381	T	A	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93300388	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93300390	G	T	single_nucleotide_variant	Pathogenic	Diamond-Blackfan_anemia_6	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93300397	C	G	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93300401	A	AT	Duplication	Pathogenic	Diamond-Blackfan_anemia	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93300404	T	C	single_nucleotide_variant	Benign	Diamond-Blackfan_anemia\|Diamond-Blackfan_anemia_6\|not_specified	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
RPL5	chr1	93300412	AG	A	Deletion	Pathogenic	Diamond-Blackfan_anemia_6	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93300415	T	C	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93300444	T	G	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
RPL5	chr1	93300448	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
RPL5	chr1	93300462	G	A	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
RPL5	chr1	93300466	G	A	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
RPL5	chr1	93300484	G	T	single_nucleotide_variant	Benign	Diamond-Blackfan_anemia_6	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93301736	T	G	single_nucleotide_variant	Benign/Likely_benign	Diamond-Blackfan_anemia_6\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93301743	A	G	single_nucleotide_variant	Benign	Diamond-Blackfan_anemia	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93301748	T	C	single_nucleotide_variant	Likely_pathogenic	Diamond-Blackfan_anemia	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
RPL5	chr1	93301756	AGGTT	A	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant
RPL5	chr1	93301803	T	A	single_nucleotide_variant	Likely_benign	Diamond-Blackfan_anemia	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
RPL5	chr1	93301806	T	C	single_nucleotide_variant	Likely_benign	Diamond-Blackfan_anemia\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
RPL5	chr1	93301822	A	C	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93301823	G	GC	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93301825	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Diamond-Blackfan_anemia_6\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93301830	T	C	single_nucleotide_variant	Benign	Diamond-Blackfan_anemia	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
RPL5	chr1	93301840	G	A	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia\|Diamond-Blackfan_anemia_6\|not_specified	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93301841	G	A	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93301845	C	T	single_nucleotide_variant	Benign	Diamond-Blackfan_anemia	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
RPL5	chr1	93301848	C	G	single_nucleotide_variant	Likely_benign	Diamond-Blackfan_anemia	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93301881	T	TTGAA	Insertion	Pathogenic	Diamond-Blackfan_anemia_6	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93301941	C	T	single_nucleotide_variant	Likely_benign	Diamond-Blackfan_anemia	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
RPL5	chr1	93301959	C	T	single_nucleotide_variant	Likely_benign	Diamond-Blackfan_anemia	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93303020	C	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93303098	G	A	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93303110	C	T	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93303114	A	G	single_nucleotide_variant	Benign/Likely_benign	Diamond-Blackfan_anemia\|Diamond-Blackfan_anemia_1\|Diamond-Blackfan_anemia_6\|not_specified\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93303117	T	TA	Duplication	Pathogenic	Diamond-Blackfan_anemia	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93303127	A	T	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93303142	C	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93303142	C	T	single_nucleotide_variant	Likely_benign	Diamond-Blackfan_anemia	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
RPL5	chr1	93303149	C	T	single_nucleotide_variant	Pathogenic	Diamond-Blackfan_anemia_6	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93303151	G	C	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93303159	A	C	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93303175	C	T	single_nucleotide_variant	Likely_benign	Diamond-Blackfan_anemia	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
RPL5	chr1	93303176	G	GT	Duplication	Pathogenic	Diamond-Blackfan_anemia_6	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93303185	G	T	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93303186	A	G	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia_6	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93303226	AT	A	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93306183	G	C	single_nucleotide_variant	Benign/Likely_benign	Diamond-Blackfan_anemia\|Diamond-Blackfan_anemia_6\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93306204	G	A	single_nucleotide_variant	Likely_benign	Diamond-Blackfan_anemia	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93306204	GTCT	G	Deletion	Likely_benign	Diamond-Blackfan_anemia	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93306317	G	A	single_nucleotide_variant	Benign	Diamond-Blackfan_anemia	SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93307213	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93307302	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93307314	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
RPL5	chr1	93307323	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
RPL5	chr1	93307331	G	A	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93307374	A	G	single_nucleotide_variant	Benign	Diamond-Blackfan_anemia_6	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
RPL5	chr1	93307396	G	A	single_nucleotide_variant	Uncertain_significance	Diamond-Blackfan_anemia	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
RPL5	chr1	93307416	G	GAGCT	Duplication	Uncertain_significance	Diamond-Blackfan_anemia_6	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
RPL5	chr1	93307469	T	C	single_nucleotide_variant	Benign	Diamond-Blackfan_anemia_6	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_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
RPL5	ESCA	chr1	93303099	93303099	C	T	Missense_Mutation	p.A205V	4
RPL5	BRCA	chr1	93299205	93299211	TATCATT	-	Frame_Shift_Del	p.I60fs	4
RPL5	SKCM	chr1	93299188	93299188	C	T	Missense_Mutation	p.R54C	4
RPL5	BRCA	chr1	93300436	93300436	C	G	Missense_Mutation	p.A97G	3
RPL5	SARC	chr1	93306153	93306153	C	T	Missense_Mutation		2
RPL5	UCEC	chr1	93303111	93303111	G	A	Missense_Mutation	p.R209H	2
RPL5	COAD	chr1	93301796	93301796	T	C	Missense_Mutation	p.V125A	2
RPL5	LUAD	chr1	93306114	93306114	G	T	Nonsense_Mutation	p.E238*	2
RPL5	STAD	chr1	93303108	93303108	T	C	Missense_Mutation	p.M208T	2
RPL5	UCEC	chr1	93303151	93303151	G	A	Silent	p.Q222	2
RPL5	BLCA	chr1	93300335	93300335	G	A	Splice_Site		2
RPL5	SARC	chr1	93306153	93306153	C	T	Missense_Mutation	p.P251S	2
RPL5	UCEC	chr1	93303176	93303176	G	A	Missense_Mutation	p.V231I	2
RPL5	COAD	chr1	93307405	93307405	C	T	Missense_Mutation	p.R293W	2
RPL5	PRAD	chr1	93301888	93301890	GGC	-	In_Frame_Del	p.G156del	2
RPL5	SARC	chr1	93301874	93301874	C	T	Missense_Mutation	p.A151V	2
RPL5	UCEC	chr1	93306145	93306145	G	A	Missense_Mutation	p.R248Q	2
RPL5	SARC	chr1	93300445	93300445	G	T	Missense_Mutation	p.C100F	2
RPL5	UCEC	chr1	93306176	93306176	G	T	Missense_Mutation	p.K258N	2
RPL5	SARC	chr1	93301874	93301874	C	T	Missense_Mutation		2
RPL5	SKCM	chr1	93300417	93300417	G	A	Missense_Mutation	p.G91S	2
RPL5	BRCA	chr1	93299194	93299197	ACAA	-	Frame_Shift_Del	p.N57fs	2
RPL5	SARC	chr1	93300445	93300445	G	T	Splice_Site		2
RPL5	SKCM	chr1	93300418	93300418	G	A	Missense_Mutation	p.G91D	2
RPL5	SKCM	chr1	93298949	93298949	T	C	Missense_Mutation	p.F3L	2
RPL5	GBM	chr1	93299200	93299201	AG	-	Frame_Shift_Del	p.R58fs	2
RPL5	SKCM	chr1	93301949	93301949	G	A	Splice_Site	p.S176_splice	2
RPL5	UCEC	chr1	93298990	93298990	C	T	Silent	p.Y16	2
RPL5	UCEC	chr1	93300390	93300390	G	A	Missense_Mutation	p.E82K	2
RPL5	UCEC	chr1	93303039	93303039	C	T	Missense_Mutation	p.S185F	2
RPL5	BLCA	chr1	93297689	93297689	C	T	Missense_Mutation		1
RPL5	KIRC	chr1	93299160	93299160	C	A	Nonsense_Mutation	p.Y44*	1
RPL5	SKCM	chr1	93298955	93298955	A	T	Nonsense_Mutation	p.K5X	1
RPL5	GBM	chr1	93303161	93303161	T	C	Missense_Mutation	p.Y226H	1
RPL5	LUSC	chr1	93303026	93303026	C	A	Missense_Mutation	p.P181T	1
RPL5	SARC	chr1	93300451	93300451	G	T	Missense_Mutation		1
RPL5	LGG	chr1	93300378	93300378	G	C	Missense_Mutation	p.A78P	1
RPL5	COAD	chr1	93303104	93303104	T	C	Missense_Mutation	p.Y207H	1
RPL5	LUAD	chr1	93300451	93300451	G	T	Missense_Mutation	p.G102V	1
RPL5	SKCM	chr1	93299169	93299170	-	AAAT	Frame_Shift_Ins	p.P47fs	1
RPL5	STAD	chr1	93301861	93301861	G	C	Missense_Mutation	p.D147H	1
RPL5	GBM	chr1	93298990	93298990	C	A	Nonsense_Mutation	p.Y16*	1
RPL5	PRAD	chr1	93300375	93300375	G	A	Missense_Mutation	p.A77T	1
RPL5	BLCA	chr1	93298950	93298950	T	G	Missense_Mutation	p.F3C	1
RPL5	LGG	chr1	93301914	93301914	G	T	Missense_Mutation	p.K164N	1
RPL5	LUAD	chr1	93300465	93300465	C	T	Missense_Mutation	p.R107C	1
RPL5	SKCM	chr1	93303031	93303031	T	G	Silent	p.G182G	1
RPL5	STAD	chr1	93306110	93306112	GGA	-	In_Frame_Del	p.236_237ME>I	1
RPL5	GBM	chr1	93298990	93298990	C	A	Nonsense_Mutation		1
RPL5	BLCA	chr1	93301834	93301834	C	T	Nonsense_Mutation	p.Q138*	1
RPL5	LGG	chr1	93300378	93300378	G	C	Missense_Mutation		1
RPL5	DLBC	chr1	93299193	93299193	G	A	Silent	p.V55V	1
RPL5	LUAD	chr1	93306107	93306107	G	T	Splice_Site		1
RPL5	SKCM	chr1	93301943	93301943	C	T	Missense_Mutation	p.P174L	1
RPL5	TGCT	chr1	93299200	93299201	AG	-	Frame_Shift_Del		1
RPL5	GBM	chr1	93303161	93303161	T	C	Missense_Mutation		1
RPL5	READ	chr1	93307331	93307331	G	A	Missense_Mutation	p.R268H	1
RPL5	BLCA	chr1	93300335	93300335	G	A	Splice_Site	p.I64_splice	1
RPL5	LGG	chr1	93301832	93301832	G	A	Missense_Mutation		1
RPL5	LUAD	chr1	93303069	93303069	A	T	Missense_Mutation	p.H195L	1
RPL5	SKCM	chr1	93303020	93303020	C	T	Nonsense_Mutation	p.R179*	1
RPL5	TGCT	chr1	93299200	93299201	AG	-	Frame_Shift_Del	p.57_58del	1
RPL5	GBM	chr1	93300358	93300358	G	A	Missense_Mutation		1
RPL5	LIHC	chr1	93299193	93299193	G	A	Silent		1
RPL5	GBM	chr1	93299218	93299218	G	C	Splice_Site	p.Q63_splice	1
RPL5	LUAD	chr1	93306104	93306126	TCAGATGGAGGAGATGTATAAGA	-	Splice_Site	p.I235_splice	1
RPL5	SKCM	chr1	93303087	93303087	G	T	Missense_Mutation	p.G201V	1
RPL5	TGCT	chr1	93300360	93300361	-	AT	Frame_Shift_Ins	p.Y72fs	1
RPL5	HNSC	chr1	93301939	93301939	A	G	Missense_Mutation		1
RPL5	LIHC	chr1	93306110	93306110	G	A	Missense_Mutation		1
RPL5	GBM	chr1	93301746	93301746	G	C	Splice_Site	p.L109_splice	1
RPL5	LUAD	chr1	93301834	93301837	CAGC	-	Frame_Shift_Del	p.QP138fs	1
RPL5	SKCM	chr1	93298955	93298955	A	T	Nonsense_Mutation	p.K5*	1
RPL5	THCA	chr1	93303072	93303072	G	T	Missense_Mutation		1
RPL5	HNSC	chr1	93301776	93301776	C	T	Silent		1
RPL5	LIHC	chr1	93307405	93307405	C	T	Missense_Mutation		1
RPL5	LUAD	chr1	93299218	93299221	GTAA	-	Splice_Site		1
RPL5	HNSC	chr1	93301776	93301776	C	T	Silent	p.I118I	1
RPL5	CESC	chr1	93303111	93303111	G	A	Missense_Mutation		1
RPL5	LIHC	chr1	93299205	93299205	T	A	Missense_Mutation	p.D59E	1
RPL5	GBM	chr1	93301897	93301898	-	T	Frame_Shift_Ins	p.V159fs	1
RPL5	LUAD	chr1	93306107	93306107	G	T	Splice_Site	p.M236_splice	1
RPL5	SKCM	chr1	93299169	93299170	-	AAAT	Frame_Shift_Ins	p.I48fs	1
RPL5	ACC	chr1	93297630	93297630	A	T	Translation_Start_Site		1
RPL5	HNSC	chr1	93301939	93301939	A	G	Missense_Mutation	p.I173V	1
RPL5	SKCM	chr1	93301759	93301759	T	-	Frame_Shift_Del	p.R112fs	1
RPL5	CESC	chr1	93301930	93301930	G	T	Missense_Mutation		1
RPL5	LIHC	chr1	93303017	93303017	A	-	Frame_Shift_Del	p.K178fs	1
RPL5	GBM	chr1	93298955	93298955	A	-	Frame_Shift_Del	p.K5fs	1
RPL5	LUAD	chr1	93306104	93306126	TCAGATGGAGGAGATGTATAAGA	-	Splice_Site	p.M236_splice	1
RPL5	SKCM	chr1	93301759	93301759	T	-	Frame_Shift_Del	p.F113fs	1
RPL5	BLCA	chr1	93298950	93298950	T	G	Missense_Mutation		1
RPL5	KIRC	chr1	93299160	93299160	C	A	Nonsense_Mutation	p.Y44X	1
RPL5	SKCM	chr1	93301949	93301949	G	A	Missense_Mutation	p.S176N	1
RPL5	COAD	chr1	93299194	93299197	ACAA	-	Frame_Shift_Del	p.55_56del	1
RPL5	LIHC	chr1	93307364	93307364	G	-	Frame_Shift_Del	p.R279fs	1
RPL5	GBM	chr1	93300358	93300358	G	A	Missense_Mutation	p.G71E	1
RPL5	LUSC	chr1	93301883	93301883	C	T	Missense_Mutation	p.T154I	1
RPL5	STAD	chr1	93306110	93306112	GGA	-	In_Frame_Del	p.236_237del	1

Copy number variation (CNV) of RPL5
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across RPL5
* 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
80844	BRCA	TCGA-A8-A08I-01A	C1orf112	chr1	169768099	+	RPL5	chr1	93303013	+
80844	N/A	EC452322	CSNK1A1	chr5	148878261	-	RPL5	chr1	93307421	+
80844	N/A	EC511057	EPM2A	chr6	145757503	-	RPL5	chr1	93307421	+
80844	N/A	EL584993	FAM69A	chr1	93298946	-	RPL5	chr1	93298958	-
80844	GBM	TCGA-32-5222-01A	FAM73A	chr1	78267193	+	RPL5	chr1	93306108	+
80844	STAD	TCGA-CD-8525-01A	IFI44L	chr1	79086256	+	RPL5	chr1	93307323	+
80844	PRAD	TCGA-EJ-5514-01A	JMJD1C	chr10	65140078	-	RPL5	chr1	93306108	+
80844	N/A	DA728185	KSR2	chr12	117899652	-	RPL5	chr1	93297599	+
80844	BRCA	TCGA-A7-A13D	MTF2	chr1	93581175	+	RPL5	chr1	93306107	+
80844	BRCA	TCGA-A7-A13D-01A	MTF2	chr1	93581175	+	RPL5	chr1	93306108	+
80844	BRCA	TCGA-E9-A1NA-01A	MTF2	chr1	93545088	+	RPL5	chr1	93298946	+
101864	BLCA	TCGA-FD-A3SP	RPL5	chr1	93300470	+	CCDC18	chr1	93657556	+
101864	BLCA	TCGA-FD-A3SP-01A	RPL5	chr1	93300470	+	CCDC18	chr1	93657557	+
101864	KIRC	TCGA-CJ-4868-01A	RPL5	chr1	93303190	+	CCDC18	chr1	93687166	+
97182	N/A	CD240112	RPL5	chr1	93307478	+	E2F3	chr6	20482704	-
96910	OV	TCGA-04-1350	RPL5	chr1	93297674	+	EIF3M	chr11	32616459	+
102827	BRCA	TCGA-A2-A25B	RPL5	chr1	93297674	+	FASN	chr17	80053348	-
97504	PRAD	TCGA-EJ-5507-01A	RPL5	chr1	93300470	+	GALNT18	chr11	11497999	-
101403	Non-Cancer	TCGA-AX-A0J0-11A	RPL5	chr1	93297674	+	GNAI3	chr1	110116358	+
90843	Non-Cancer	ERR315358	RPL5	chr1	93297674	+	HMGN1	chr21	40717200	-
95580	PRAD	TCGA-EJ-7115	RPL5	chr1	93297674	+	HSD17B4	chr5	118842512	+
76940	N/A	FN078212	RPL5	chr1	93307475	+	MCC	chr5	112719933	+
80844	N/A	AA313245	RPL5	chr1	93297605	-	RPL5	chr1	93297627	+
101365	STAD	TCGA-FP-8211-01A	RPL5	chr1	93297674	+	SFPQ	chr1	35643637	-
94575	Non-Cancer	TCGA-CG-5730-11A	RPL5	chr1	93297674	+	SLC20A1	chr2	113417963	+
94575	Non-Cancer	TCGA-CG-5730-11A	RPL5	chr1	93297674	+	SLC20A1	chr2	113417964	+
102785	STAD	TCGA-BR-8081	RPL5	chr1	93297674	+	SMARCB1	chr22	24158956	+
101873	N/A	BI855909	RPL5	chr1	93307478	+	SNHG14	chr15	25154053	-
101873	N/A	BI862417	RPL5	chr1	93307481	+	SNHG14	chr15	25154053	-
97721	UCEC	TCGA-AJ-A3EK-01A	RPL5	chr1	93297674	+	SQSTM1	chr5	179263436	+
86590	OV	TCGA-09-2056	RPL5	chr1	93297674	+	SRSF11	chr1	70694104	+
89313	BRCA	TCGA-E2-A572-01A	RPL5	chr1	93297674	+	TRMU	chr22	46752739	+
80844	N/A	AA316202	SCRG1	chr4	174340887	-	RPL5	chr1	93298945	+
80846	N/A	BP225790	SESTD1	chr2	180057823	-	RPL5	chr1	93297599	+

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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
KIRC	RPL5	0.00205549622366763	0.058
BRCA	RPL5	0.0261221051967073	0.71

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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
LGG	RPL5	1.82887917573694e-05	6e-04
BRCA	RPL5	0.000853961073551926	0.027

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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
C1260899	Anemia, Diamond-Blackfan	3	GENOMICS_ENGLAND
C2931850	Aase Smith syndrome 2	2	CTD_human;GENOMICS_ENGLAND;UNIPROT
C0008925	Cleft Palate	1	GENOMICS_ENGLAND
C0010093	Corpus Luteum Cyst	1	CTD_human
C0029927	Ovarian Cysts	1	CTD_human
C1961099	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	1	CGI;CTD_human