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Center for Computational Systems Medicine
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Gene Summary

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Translation studies in PubMed

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Exon Skipping Events

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Expression

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Expression Regulation

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Associated Genes

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Protein 3D Structure

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Protein-Protein Interaction

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Mutations

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Prognostic Analysis

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Gender Association

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Age Association

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Related Drugs

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Related Diseases

Translation Factor: RMND1 (NCBI Gene ID:55005)


Gene Summary

check button Gene Summary
Gene InformationGene Name: RMND1
Gene ID: 55005
Gene Symbol

RMND1

Gene ID

55005

Gene Namerequired for meiotic nuclear division 1 homolog
SynonymsC6orf96|COXPD11|RMD1|bA351K16|bA351K16.3
Cytomap

6q25.1

Type of Geneprotein-coding
Descriptionrequired for meiotic nuclear division protein 1 homolog
Modification date20200313
UniProtAcc

Q9NWS8


check button Child GO biological process term(s) under GO:0006412
GO IDGO term
GO:0006417Regulation of translation
GO:0032543Mitochondrial translation
GO:0045727Positive regulation of translation
GO:0006412Translation


check button Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneRMND1

GO:0070131

positive regulation of mitochondrial translation

25604853



check button Inferred gene age of translation factor.
GeneInferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25
RMND1>1119.25


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Translation Studies in PubMed

check button We searched PubMed using 'RMND1[title] AND translation [title] AND human.'
GeneTitlePMID
RMND1A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects29671881


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Exon Skipping Events

check buttonSkipped 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.
all structure

check button 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.
ENSTExon skip start (DNA)Exon Skip end (DNA)ORF
ENST00000367303151742379151742456Frame-shift
ENST00000367303151743675151743740Frame-shift
ENST00000367303151748616151748717Frame-shift
ENST00000367303151757580151757689Frame-shift
ENST000003673031517664421517669603UTR-3CDS

check button Exon skipping position in the amino acid sequence.
ENSTExon 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)

check button Potentially (partially) lost protein functional features of UniProt.
UniProtAccExon skip start (AA)Exon Skip end (AA)Function feature start (AA)Function feature end (AA)Functional feature typeFunctional feature desc.


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Expression


check buttonGene expression level across TCGA pancancer
all structure

check buttonGene expression level across GTEx pantissue
all structure

check buttonExpression level of gene isoforms across TCGA pancancer
all structure

check buttonExpression level of gene isoforms across GTEx pantissue
all structure

check buttonCancer(tissue) type-specific expression level of Translation factor using z-score distriution
all structure

check buttonDifferential expression between tumor and matched normal (in the cancer types with more than 10 matched samples)
all structure
Cancer typeTranslation factorFCadj.pval
LUADRMND1-1.505066425261330.00200698412741262
CHOLRMND1-5.518358125363950.00390625
BLCARMND1-1.26848082341940.040130615234375


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Expression Regulation


check buttonTranslation factor expression regulation through miRNA binding
Cancer typeGenemiRNATargetScan binding score (Context++ score percentile)CoefficientPvalue


check buttonTranslation factor expression regulation through methylation in the promoter of Translation factor
Cancer typeGenemethyl group bmethyl group aDEG pvalavg methyl in bavg methyl in aavg exp in bavg exp in a

check buttonTranslation factor expression regulation through methylation in the gene body of Translation factor (positive regulation)
Cancer typeGenemethyl group bmethyl group aDEG pvalavg methyl in bavg methyl in aavg exp in bavg exp in a

check buttonTranslation factor expression regulation through copy number variation of Translation factor
Cancer typeGeneCoefficientPvalue
THCARMND1-0.2085791150.034631775

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Associated Genes


check button Strongly correlated genes belong to cellular important gene groups with RMND1 (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)
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Cancer typeGene groupTranslation factorCorrelated geneCoefficientPvalue
CHOLCell metabolism geneRMND1ENPP10.8031212983.18E-11
CHOLCell metabolism geneRMND1ACAT20.8798141511.76E-15
CHOLCGCRMND1FGFR1OP0.835429439.52E-13
CHOLIUPHARRMND1ACAT20.8798141511.76E-15
KICHCell metabolism geneRMND1NIT20.800538981.69E-21
KICHCell metabolism geneRMND1UGT2B100.8191492453.35E-23
KICHCell metabolism geneRMND1SCLY0.8207139382.36E-23
KICHCell metabolism geneRMND1MIOX0.8267266585.95E-24
KICHCell metabolism geneRMND1SAT20.8386288893.30E-25
KICHCell metabolism geneRMND1TPMT0.8412612491.69E-25
KICHIUPHARRMND1SLC5A20.8013273441.45E-21
KICHIUPHARRMND1KCNK100.8201571122.68E-23
KICHIUPHARRMND1SLC22A130.8277250944.71E-24
KICHTSGRMND1NIT20.800538981.69E-21
KICHTSGRMND1PLA2R10.8062499335.32E-22
TGCTCell metabolism geneRMND1CCT80.8049104779.89E-37
TGCTCell metabolism geneRMND1POLR1C0.834910118.86E-42
TGCTCell metabolism geneRMND1TCP10.8357028076.32E-42
TGCTCell metabolism geneRMND1SLC25A160.8364004634.68E-42
TGCTCell metabolism geneRMND1EXOSC50.8376916312.68E-42
TGCTCell metabolism geneRMND1LDLRAP10.8446264061.23E-43
TGCTCGCRMND1TEC0.8780770123.70E-51
TGCTEpifactorRMND1RAD510.8202591883.39E-39
TGCTEpifactorRMND1EXOSC50.8376916312.68E-42
TGCTIUPHARRMND1HCN20.8225739611.37E-39
TGCTIUPHARRMND1PIM20.834720419.60E-42
TGCTIUPHARRMND1SLC25A160.8364004634.68E-42
TGCTIUPHARRMND1TEC0.8780770123.70E-51
TGCTKinaseRMND1PIM20.834720419.60E-42
TGCTKinaseRMND1TEC0.8780770123.70E-51
TGCTTFRMND1HKR10.8016295643.12E-36
TGCTTFRMND1ZNF2960.813635444.19E-38
TGCTTFRMND1ZNF2560.8170225351.17E-38
TGCTTFRMND1TFCP2L10.8223645291.49E-39
TGCTTFRMND1ZNF5780.8251953974.86E-40
TGCTTFRMND1ZNF4900.8283743941.35E-40
TGCTTFRMND1VENTX0.8397466691.09E-42
TGCTTFRMND1SOX150.8453506328.86E-44
TGCTTFRMND1MYBL20.8477988352.86E-44
TGCTTFRMND1SPZ10.8513729215.31E-45
TGCTTFRMND1TBPL20.8637838131.06E-47
TGCTTSGRMND1PTPN120.8048962219.94E-37
TGCTTSGRMND1SOX150.8453506328.86E-44
TGCTTSGRMND1ALPL0.8652932144.79E-48


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Protein structure


check button Protein 3D structure
Visit iCn3D.


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Protein-Protein Interaction


check button 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))
all structure

check buttonOverlap 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))
all structure
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* Edge colors based on TCGA cancer types.

check button* 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))
all structure
Cancer typeTranslation factorInteracting protein coding geneFCadj.pval
HNSCRMND1C6orf211-1.327600643730320.000172794781747143
KIRPRMND1MTRF1L-1.315763625073470.000177780166268349
KIRPRMND1TRMT51.325302169692520.000177780166268349
COADRMND1MTRF1L-1.151627239483580.000411599874496461
LUSCRMND1GRSF1-2.762478965715290.00051492571390515
LIHCRMND1FBXL4-2.029849816629540.000703270880675748
THCARMND1GRSF1-1.089410765874450.00125200545023797
KICHRMND1MTHFD1L-1.419152804904810.00129634141921997
CHOLRMND1MTHFD1L-4.064992533614420.00390625
BLCARMND1C10orf2-2.836750823013460.00945281982421875
STADRMND1GRSF1-1.479849516592370.0265949876047671
LIHCRMND1ZBTB21.62953912925081.07309451780221e-05
BRCARMND1TRMT5-1.869611972933061.08510546514812e-15
LUADRMND1C10orf2-2.669162487029941.24377921468566e-10
KIRCRMND1MTHFD1L-1.699174159408311.67130433779115e-06
PRADRMND1C10orf2-5.624405882780911.68345161461848e-08
KICHRMND1ZBTB21.784449976401871.82986259460449e-05
THCARMND1FBXL4-1.493097867720252.71783854280851e-06
STADRMND1C10orf2-4.211216819540582.98023223876953e-07
KICHRMND1FBXL4-2.581836358656323.27825546264648e-06
LIHCRMND1MTHFD1L-1.098916497681163.74721971423485e-08
LUADRMND1GRSF1-2.606146244717384.74567569196557e-06
KIRCRMND1FBXL4-1.297797697025485.27799036481288e-11
KICHRMND1MTRF1L-2.047665101380495.38825988769531e-05
LUADRMND1TRMT5-5.37158617369515.47570214265305e-08
KIRPRMND1FBXL4-2.71498389671639.4762071967125e-07


check button Protein-protein interactors with this translation factor (BIOGRID-3.4.160)
PPI interactors with RMND1
FAM9B, RIC3, SRPRB, DDRGK1, CACNG4, ST3GAL4, SLC39A4, P2RY12, GLT8D2, LPAR1, FAM134C, TUSC5, Tmem109, NDUFA4, DEFB104A, CHST12, TPTE2, DNAJC1, SLC39A9, IPPK, UXS1, TMEM5, RXFP4, GALNT6, HTR2C, ST3GAL1, SPPL2B, FPR2, CHSY3, GALNT16, C3AR1, GALNT7, RNF4, ESR2, PTPRN2, PLEKHA4, nsp6, HSCB, KIF14, ACAD9, ACOT2, AFG3L2, AIFM1, ATP5D, CHCHD3, CLPB, CLPX, COQ5, COX15, COX2, COX4I1, COX5A, COX5B, COX6A1, COX6B1, COX6C, COX7A2L, CTSB, DAP3, DHX30, DLST, ECHS1, ECSIT, ELAC2, ERAL1, ETFA, ETFB, GLS, GLUD1, HADHA, HNRNPUL2, HSDL2, IARS2, IMMT, IVD, KIAA0391, LARS2, LETM1, LRPPRC, LY6G5C, MRPL12, MRPL37, MRPL44, MRPS10, MRPS14, MRPS16, MRPS17, MRPS18B, MRPS2, MRPS22, MRPS23, MRPS24, MRPS25, MRPS26, MRPS27, MRPS28, MRPS31, MRPS34, MRPS35, MRPS5, MRPS6, MRPS7, MRPS9, MTX2, MYH10, MYO1C, MYO1D, NDUFA12, NDUFA5, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB10, NDUFS1, NDUFS2, NDUFS3, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV3, NFS1, OCIAD1, OCIAD2, OGDH, OXA1L, PDK3, PDPR, PHB, PLGRKT, POLDIP2, PPIF, PTCD3, PUS1, PYCR1, PYCR2, SAMM50, SDHA, SHMT2, SLC30A9, SLIRP, STOML2, TACO1, TARS2, TEFM, TIMM44, TIMMDC1, VARS2, VWA8, DDX39A, C5AR1, KRTCAP2, CCR6, PTPRT, MLNR, KCNH2, B3GALT5, TMEM106B, GLT6D1, GALNT2, BTNL9, PDE3A, CHODL, EFNA4, LEAP2, B3GAT2, KLRK1, PTGFRN, SLC51B, GALNT8, TPST2, MFNG, PGA3, PLEKHM3, CRELD1, SMIM21, CHST7, CR1L, HSD17B3, GPR17, FFAR1, S1PR4, LPAR2, P2RY2, TMEM43, GPC1, ZRANB1,


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Mutations


check button Clinically associated variants from ClinVar.
GeneChrPositionRefSeqVarSeqRefSeeqVarTypePathogenicDiseaseVarInfo
RMND1chr6151725993CCATTTMicrosatelliteBenignnot_providedSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
RMND1chr6151726175GTsingle_nucleotide_variantBenignnot_providedSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
RMND1chr6151726300GCsingle_nucleotide_variantBenignnot_providedSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
RMND1chr6151726371CGsingle_nucleotide_variantPathogenicCombined_oxidative_phosphorylation_deficiency_11|Mitochondrial_disease|Inborn_genetic_diseasesSO:0001578|stop_lostSO:0001578|stop_lost
RMND1chr6151726371CTsingle_nucleotide_variantBenignnot_specified|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
RMND1chr6151726372AGsingle_nucleotide_variantLikely_pathogenicInborn_genetic_diseasesSO:0001578|stop_lostSO:0001578|stop_lost
RMND1chr6151726385TCsingle_nucleotide_variantLikely_benignnot_specifiedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
RMND1chr6151726399TGsingle_nucleotide_variantLikely_benignnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
RMND1chr6151726413AGsingle_nucleotide_variantUncertain_significanceCombined_oxidative_phosphorylation_deficiency_11SO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151726756TCsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151726759GCsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151726797GCGDeletionLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151726829CTsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151726854CAsingle_nucleotide_variantPathogenicMitochondrial_diseaseSO:0001575|splice_donor_variantSO:0001575|splice_donor_variant
RMND1chr6151726869GAsingle_nucleotide_variantPathogenicMitochondrial_diseaseSO:0001583|missense_variantSO:0001583|missense_variant
RMND1chr6151726886TAsingle_nucleotide_variantUncertain_significanceCombined_oxidative_phosphorylation_deficiency_11SO:0001583|missense_variantSO:0001583|missense_variant
RMND1chr6151726892CTsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
RMND1chr6151726922CTsingle_nucleotide_variantPathogenicCombined_oxidative_phosphorylation_deficiency_11|Mitochondrial_diseaseSO:0001583|missense_variantSO:0001583|missense_variant
RMND1chr6151726963AGsingle_nucleotide_variantBenign/Likely_benignnot_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
RMND1chr6151727101TCATDeletionLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151727208AGsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151727254TCsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151738131AGsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151738370CTsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151738376CTsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151738410GAsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151738447CTsingle_nucleotide_variantBenignnot_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
RMND1chr6151738456GAsingle_nucleotide_variantLikely_benignnot_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
RMND1chr6151738529CTsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityCombined_oxidative_phosphorylation_deficiency_11|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
RMND1chr6151738566AGsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151738627CTCDeletionBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151738854AGsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151742410AGsingle_nucleotide_variantUncertain_significanceCombined_oxidative_phosphorylation_deficiency_11SO:0001583|missense_variantSO:0001583|missense_variant
RMND1chr6151742420CTsingle_nucleotide_variantUncertain_significanceCombined_oxidative_phosphorylation_deficiency_11SO:0001583|missense_variantSO:0001583|missense_variant
RMND1chr6151742457CCTCAInsertionUncertain_significancenot_providedSO:0001574|splice_acceptor_variantSO:0001574|splice_acceptor_variant
RMND1chr6151742541TCsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151742542GAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151743408CTATTCDeletionBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151743629ACsingle_nucleotide_variantBenignCombined_oxidative_phosphorylation_deficiency_11|not_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151743661AGsingle_nucleotide_variantLikely_benignnot_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151743673TGsingle_nucleotide_variantUncertain_significancenot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151743745GGADuplicationLikely_benignnot_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151743938TCsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151743948AGsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151744403ACsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151744649TCsingle_nucleotide_variantLikely_benignnot_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151744671ACsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
RMND1chr6151744677TCsingle_nucleotide_variantUncertain_significanceCombined_oxidative_phosphorylation_deficiency_11SO:0001583|missense_variantSO:0001583|missense_variant
RMND1chr6151744698AGsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
RMND1chr6151744738TAsingle_nucleotide_variantLikely_pathogenicCombined_oxidative_phosphorylation_deficiency_11SO:0001583|missense_variantSO:0001583|missense_variant
RMND1chr6151744739TAsingle_nucleotide_variantBenignnot_specified|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
RMND1chr6151744740TCTDeletionPathogenicCombined_oxidative_phosphorylation_deficiency_11SO:0001589|frameshift_variantSO:0001589|frameshift_variant
RMND1chr6151744745CGsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
RMND1chr6151744811CAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151744937TTCDuplicationLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151744986CCTDuplicationBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151744986CTCDeletionBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151745022GAsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151748320GAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151748334AGsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151748510CACDeletionBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151748614TACTCTDeletionPathogenicNephronophthisisSO:0001575|splice_donor_variantSO:0001575|splice_donor_variant
RMND1chr6151748616CTsingle_nucleotide_variantPathogenicMitochondrial_diseaseSO:0001575|splice_donor_variantSO:0001575|splice_donor_variant
RMND1chr6151748653TCsingle_nucleotide_variantLikely_benignnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
RMND1chr6151748664GAsingle_nucleotide_variantBenignnot_specified|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
RMND1chr6151748808CAsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151748938GTsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151748995TCsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151750960CTsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151751037GAsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151751274GTGDeletionLikely_pathogenicCombined_oxidative_phosphorylation_deficiency_11SO:0001589|frameshift_variantSO:0001589|frameshift_variant
RMND1chr6151751289TCsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityNephronophthisis|Combined_oxidative_phosphorylation_deficiency_11|Mitochondrial_oxidative_phosphorylation_disorder|Mitochondrial_disease|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
RMND1chr6151751291CTsingle_nucleotide_variantUncertain_significancenot_providedSO:0001587|nonsenseSO:0001587|nonsense
RMND1chr6151751326AGsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151751332GCsingle_nucleotide_variantLikely_benignnot_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151751412CTsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151753995GAsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151754058GAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151754273TCsingle_nucleotide_variantBenignCombined_oxidative_phosphorylation_deficiency_11|not_specified|not_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151754311GAsingle_nucleotide_variantConflicting_interpretations_of_pathogenicitynot_providedSO:0001583|missense_variantSO:0001583|missense_variant
RMND1chr6151754348CTsingle_nucleotide_variantPathogenicMitochondrial_diseaseSO:0001583|missense_variantSO:0001583|missense_variant
RMND1chr6151754427CTsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151754572ACsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151757240CCADuplicationBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151757247CCADuplicationBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151757247CACDeletionBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151757250AACInsertionLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151757251ACsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151757252ACsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151757327TCsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151757332TCsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151757568CAAGCMicrosatelliteLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151757581CAsingle_nucleotide_variantPathogenicCombined_oxidative_phosphorylation_deficiency_11SO:0001583|missense_variantSO:0001583|missense_variant
RMND1chr6151757612GAsingle_nucleotide_variantLikely_benignnot_specifiedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
RMND1chr6151757629GAsingle_nucleotide_variantPathogenicMitochondrial_diseaseSO:0001587|nonsenseSO:0001587|nonsense
RMND1chr6151757633CTsingle_nucleotide_variantLikely_benignnot_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
RMND1chr6151757660CTsingle_nucleotide_variantLikely_benignnot_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
RMND1chr6151757661GTsingle_nucleotide_variantPathogenicMitochondrial_diseaseSO:0001583|missense_variantSO:0001583|missense_variant
RMND1chr6151757664GAsingle_nucleotide_variantUncertain_significanceCombined_oxidative_phosphorylation_deficiency_11SO:0001583|missense_variantSO:0001583|missense_variant
RMND1chr6151757745CTsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151757907CTsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151757960GAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151758029AAATGDuplicationBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151766118ATTTTADeletionLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151766162TCsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151766199AGsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151766397GAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151766442CTsingle_nucleotide_variantPathogenicCombined_oxidative_phosphorylation_deficiency_11SO:0001575|splice_donor_variant,SO:0001627|intron_variantSO:0001575|splice_donor_variant,SO:0001627|intron_variant
RMND1chr6151766446GAsingle_nucleotide_variantLikely_benignnot_providedSO:0001819|synonymous_variant,SO:0001627|intron_variantSO:0001819|synonymous_variant,SO:0001627|intron_variant
RMND1chr6151766449CACAGCMicrosatelliteLikely_pathogenicnot_providedSO:0001587|nonsense,SO:0001627|intron_variantSO:0001587|nonsense,SO:0001627|intron_variant
RMND1chr6151766461TGTDeletionPathogenicnot_providedSO:0001589|frameshift_variant,SO:0001627|intron_variantSO:0001589|frameshift_variant,SO:0001627|intron_variant
RMND1chr6151766500TCsingle_nucleotide_variantBenignnot_specified|not_providedSO:0001819|synonymous_variant,SO:0001627|intron_variantSO:0001819|synonymous_variant,SO:0001627|intron_variant
RMND1chr6151766552GAsingle_nucleotide_variantBenignnot_specified|not_providedSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
RMND1chr6151766558ACADeletionLikely_pathogenicCombined_oxidative_phosphorylation_deficiency_11SO:0001589|frameshift_variant,SO:0001627|intron_variantSO:0001589|frameshift_variant,SO:0001627|intron_variant
RMND1chr6151766578TCsingle_nucleotide_variantLikely_benignnot_providedSO:0001819|synonymous_variant,SO:0001627|intron_variantSO:0001819|synonymous_variant,SO:0001627|intron_variant
RMND1chr6151766627ATsingle_nucleotide_variantConflicting_interpretations_of_pathogenicitynot_providedSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
RMND1chr6151766655TGTDeletionLikely_pathogenicnot_providedSO:0001589|frameshift_variant,SO:0001627|intron_variantSO:0001589|frameshift_variant,SO:0001627|intron_variant
RMND1chr6151766701TGsingle_nucleotide_variantLikely_benignnot_providedSO:0001819|synonymous_variant,SO:0001627|intron_variantSO:0001819|synonymous_variant,SO:0001627|intron_variant
RMND1chr6151766746GTsingle_nucleotide_variantLikely_benignnot_providedSO:0001819|synonymous_variant,SO:0001627|intron_variantSO:0001819|synonymous_variant,SO:0001627|intron_variant
RMND1chr6151766791CTsingle_nucleotide_variantLikely_benignnot_providedSO:0001819|synonymous_variant,SO:0001627|intron_variantSO:0001819|synonymous_variant,SO:0001627|intron_variant
RMND1chr6151766807CTsingle_nucleotide_variantBenignnot_specified|not_providedSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
RMND1chr6151766822CAsingle_nucleotide_variantBenignCombined_oxidative_phosphorylation_deficiency_11|not_specified|not_providedSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
RMND1chr6151766859ACADeletionPathogenicCombined_oxidative_phosphorylation_deficiency_11|not_providedSO:0001589|frameshift_variant,SO:0001627|intron_variantSO:0001589|frameshift_variant,SO:0001627|intron_variant
RMND1chr6151767257GAsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
RMND1chr6151773160GGAAGAGMicrosatelliteLikely_benignnot_specifiedSO:0001623|5_prime_UTR_variantSO:0001623|5_prime_UTR_variant
RMND1chr6151773163AGAGADeletionLikely_benignnot_specifiedSO:0001623|5_prime_UTR_variantSO:0001623|5_prime_UTR_variant
RMND1chr6151773164GAsingle_nucleotide_variantBenignnot_specifiedSO:0001623|5_prime_UTR_variantSO:0001623|5_prime_UTR_variant
RMND1chr6151773173GAsingle_nucleotide_variantLikely_benignnot_specifiedSO:0001623|5_prime_UTR_variantSO:0001623|5_prime_UTR_variant
RMND1chr6151773206CGsingle_nucleotide_variantBenignnot_providedSO:0001623|5_prime_UTR_variantSO:0001623|5_prime_UTR_variant
RMND1chr6151773320TAsingle_nucleotide_variantBenignnot_provided
RMND1chr6151773353GCsingle_nucleotide_variantBenignnot_provided


check button nsSNVs with sample frequency (size of circle) from TCGA 33 cancers.
all structure


check button SNVs and Indels
GeneCancer typeChromosomeStartEndRefSeeqMutSeqMutation typeAAchange# samples
RMND1BRCAchr6151743699151743699CANonsense_Mutationp.E327*3
RMND1LIHCchr6151766726151766726T-Frame_Shift_Delp.K74fs3
RMND1BRCAchr6151748625151748625TASilentp.I2743
RMND1ESCAchr6151766902151766902TCMissense_Mutationp.I15M3
RMND1BRCAchr6151766672151766672TCMissense_Mutationp.K92R3
RMND1UCECchr6151738458151738458AGMissense_Mutationp.Y386H3
RMND1UCECchr6151726967151726967AGMissense_Mutationp.M402T3
RMND1PAADchr6151766865151766865GTMissense_Mutationp.L28I3
RMND1UCECchr6151744746151744746CAMissense_Mutationp.R284M2
RMND1HNSCchr6151766876151766876CAMissense_Mutationp.R24I2
RMND1BRCAchr6151766618151766618TGMissense_Mutationp.K110T2
RMND1UCECchr6151748663151748663CTMissense_Mutationp.A262T2
RMND1HNSCchr6151766520151766520GANonsense_Mutationp.Q143*2
RMND1UCECchr6151766483151766483TCMissense_Mutationp.Q155R2
RMND1SKCMchr6151766735151766735TCMissense_Mutationp.N71S2
RMND1BLCAchr6151742433151742433CTSilentp.V342V2
RMND1LUADchr6151744707151744707TCMissense_Mutationp.D297G2
RMND1ESCAchr6151742424151742424ATSilent2
RMND1CESCchr6151766705151766705GTMissense_Mutation2
RMND1ESCAchr6151766902151766902TCMissense_Mutation2
RMND1ESCAchr6151742424151742424ATSilentp.S345S2
RMND1STADchr6151766824151766824GASilentp.C41C2
RMND1CESCchr6151766898151766898AGMissense_Mutationp.S17P2
RMND1LIHCchr6151751308151751308CTMissense_Mutation2
RMND1LIHCchr6151751308151751308CTMissense_Mutationp.G232R2
RMND1STADchr6151766691151766691CTMissense_Mutationp.A86T2
RMND1UCECchr6151744667151744667GAMissense_Mutationp.P2S2
RMND1BLCAchr6151754317151754318CCAAMissense_Mutationp.G221F1
RMND1LIHCchr6151748616151748616CTSplice_Site.1
RMND1STADchr6151766783151766783GAMissense_Mutationp.P55L1
RMND1COADchr6151738448151738448GAMissense_Mutationp.T389M1
RMND1READchr6151766446151766446GASilentp.N167N1
RMND1BLCAchr6151754318151754318CAMissense_Mutation1
RMND1THCAchr6151726916151726916TGMissense_Mutation1
RMND1LIHCchr6151766838151766839-AFrame_Shift_Insp.L36fs1
RMND1COADchr6151744741151744741CTMissense_Mutationp.E286K1
RMND1SARCchr6151738432151738432GTMissense_Mutation1
RMND1BLCAchr6151757583151757583CTMissense_Mutation1
RMND1THCAchr6151757610151757610CTMissense_Mutation1
RMND1ESCAchr6151742424151742424ATSilentp.S3451
RMND1SARCchr6151738432151738432GTMissense_Mutationp.S394R1
RMND1BLCAchr6151738478151738478CGMissense_Mutation1
RMND1KIRCchr6151726969151726969GTSilentp.V401V1
RMND1THCAchr6151757610151757610CTMissense_Mutationp.G25E1
RMND1LIHCchr6151726374151726374A-Frame_Shift_Delp.F449fs1
RMND1KIRPchr6151751272151751272CTSplice_Site1
RMND1THCAchr6151726916151726916TGMissense_Mutationp.H249P1
RMND1SKCMchr6151766442151766442CTSplice_Site1
RMND1BLCAchr6151754317151754317CAMissense_Mutationp.G221V1
RMND1LGGchr6151766610151766610GASilentp.L113L1
RMND1THCAchr6151726916151726916TGMissense_Mutationp.H419P1
RMND1LUSCchr6151766679151766679CGMissense_Mutationp.D90H1
RMND1SKCMchr6151766907151766907GAMissense_Mutationp.H14Y1
RMND1BLCAchr6151754318151754318CAMissense_Mutationp.G221C1
RMND1LIHCchr6151766500151766500TCSilent1
RMND1THCAchr6151757610151757610CTMissense_Mutationp.G195E1
RMND1CESCchr6151726857151726857CGMissense_Mutation1
RMND1LUSCchr6151766462151766462GTMissense_Mutationp.P162Q1
RMND1SKCMchr6151738425151738425GANonsense_Mutationp.R397*1
RMND1BLCAchr6151757583151757583CTMissense_Mutationp.R204K1
RMND1LIHCchr6151766496151766496AGMissense_Mutation1
RMND1SKCMchr6151751292151751292CTNonsense_Mutationp.W237*1
RMND1CESCchr6151766522151766522GTMissense_Mutation1
RMND1PAADchr6151766865151766865GTMissense_Mutation1
RMND1HNSCchr6151766876151766876CAMissense_Mutation1
RMND1BLCAchr6151757629151757629GANonsense_Mutationp.Q189*1
RMND1LIHCchr6151766736151766736TCMissense_Mutation1
RMND1HNSCchr6151757574151757574GCMissense_Mutation1
RMND1BLCAchr6151766453151766453GCMissense_Mutationp.S165C1
RMND1STADchr6151743719151743719GAMissense_Mutationp.A320V1
RMND1UCECchr6151744740151744741-CFrame_Shift_Insp.E286fs1
RMND1CHOLchr6151738443151738443GTMissense_Mutation1
RMND1PRADchr6151766709151766709GASilentp.L80L1
RMND1BLCAchr6151742433151742433CTSilent1
RMND1HNSCchr6151766552151766552GAMissense_Mutation1
RMND1BLCAchr6151738478151738478CGMissense_Mutationp.R379T1
RMND1CHOLchr6151738443151738443GTMissense_Mutationp.Q391K1
RMND1PRADchr6151744681151744681AGMissense_Mutationp.S306P1
RMND1BLCAchr6151754317151754317CAMissense_Mutation1
RMND1HNSCchr6151766915151766915CAMissense_Mutationp.R11I1

check buttonCopy number variation (CNV) of RMND1
* Click on the image to open the original image in a new window.
all structure

check buttonFusion gene breakpoints (product of the structural variants (SVs)) across RMND1
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


check button Fusion genes with this translation factor from FusionGDB2.0.
FusionGDB2 IDDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
74259N/AAA533159RMND1chr6151759950+AVPR1Achr1263536539+
92699SARCTCGA-HB-A3YVRMND1chr6151773150-MTHFD1Lchr6151226785+
92699SARCTCGA-HB-A3YV-01ARMND1chr6151773151-MTHFD1Lchr6151226786+
92699SARCTCGA-X9-A971-01ARMND1chr6151773151-MTHFD1Lchr6151219996+
92699SARCTCGA-X9-A971-01ARMND1chr6151773151-MTHFD1Lchr6151239713+
100932BRCATCGA-E9-A1RG-01ARMND1chr6151766443-SYNE1chr6152470803-
100932UCSTCGA-N5-A4RD-01ARMND1chr6151738414-SYNE1chr6152632008-
98145SARCTCGA-DX-A1L0-01ARMND1chr6151742380-TIAM2chr6155448624+
100750BRCATCGA-E9-A1R7-01ARMND1chr6151738414-ZDHHC14chr6158093756+
100750BRCATCGA-E9-A1R7-01ARMND1chr6151738414-ZDHHC14chr6158093801+


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Prognostic Analysis


check button Kaplan-Meier plots with logrank tests of overall survival (OS)
all structure
Cancer typeTranslation factorCoefficentHazard ratioWald test pvalLikelihool ratio pvalLogrank test pval# samples


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Translation factor and Gender


check button Differential gene expression between female and male. (Wilcoxon test, pval<0.05)
all structure
Cancer typeTranslation factorpvaladj.p
THCARMND10.001809195906176390.049
SKCMRMND10.003564396679513740.093
HNSCRMND10.02843602524939750.71
KIRCRMND10.03352400617416080.8
TGCTRMND13.02217353785957e-068.5e-05

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Translation factor and Age


check button Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05)
all structure
Cancer typeTranslation factorpvaladj.p
GBMRMND10.01588142911061390.49
BRCARMND19.24222861916545e-050.003
OVRMND10.0001745571839193640.0056

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Related Drugs


check button Drugs targeting genes involved in this translation factor.
(DrugBank Version 5.1.8 2021-05-08)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases


check button Diseases associated with this translation factor.
(DisGeNet 4.0)
Disease IDDisease Name# PubMedsDisease source
C3554067COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 116CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
C0006142Malignant neoplasm of breast1CTD_human
C0678222Breast Carcinoma1CTD_human
C1257931Mammary Neoplasms, Human1CTD_human
C4704874Mammary Carcinoma, Human1CTD_human