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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: TSFM (NCBI Gene ID:10102)

Gene Summary

Gene Summary

Gene Information	Gene Name: TSFM
	Gene ID: 10102
	Gene Symbol	TSFM
	Gene ID	10102
	Gene Name	Ts translation elongation factor, mitochondrial
	Synonyms	EFTS\|EFTSMT
	Cytomap	12q14.1
	Type of Gene	protein-coding
	Description	elongation factor Ts, mitochondrialEF-TsEF-TsMtmitochondrial elongation factor Ts
	Modification date	20200313
	UniProtAcc	P43897

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

GO ID	GO term
GO:0006417	Regulation of translation
GO:0032543	Mitochondrial translation
GO:0008135	Translation factor activity, RNA binding
GO:0006414	Translational elongation
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	TSFM	GO:0070129	regulation of mitochondrial translation	27677415

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
TSFM	>1119.25

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Translation Studies in PubMed

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

Gene	Title	PMID
TSFM	Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement	30911037

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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
ENST00000454289	58186768	58186856	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)

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.

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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
KICH	TSFM	1.15779807454151	0.00129634141921997
LUSC	TSFM	-3.83005339359833	1.4433166414012e-09
BRCA	TSFM	-2.93602416019673	2.90907687062967e-14
LUAD	TSFM	-4.00047669194892	9.20176185683847e-09

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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
PRAD	TSFM	2	1	0.0415062846670546	0.216283921330089	0.182164130434783	0.625740971090926	0.479453461834531
SKCM	TSFM	2	1	0.00794326262572193	0.221687777777778	0.182784627092846	0.443784390688451	0.221875652622751

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
KIRC	TSFM	0.012672918	0.021108478
UCEC	TSFM	0.140942547	0.021108977
HNSC	TSFM	-0.152349177	0.049010682

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Associated Genes

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

Cancer type	Gene group	Translation factor	Correlated gene	Coefficient	Pvalue
DLBC	TSG	TSFM	PHB	0.819260714	1.10E-12
GBM	CGC	TSFM	CDK4	0.827762507	1.59E-44
GBM	IUPHAR	TSFM	CDK4	0.827762507	1.59E-44
GBM	Kinase	TSFM	CDK4	0.827762507	1.59E-44
LUAD	CGC	TSFM	CDK4	0.815612446	1.64E-138
LUAD	IUPHAR	TSFM	CDK4	0.815612446	1.64E-138
LUAD	Kinase	TSFM	CDK4	0.815612446	1.64E-138
THYM	Cell metabolism gene	TSFM	CYC1	0.803164656	9.18E-29
THYM	Cell metabolism gene	TSFM	GRPEL1	0.815735775	2.62E-30
THYM	Cell metabolism gene	TSFM	NME1	0.842707692	4.61E-34
THYM	CGC	TSFM	CDK4	0.822114648	3.87E-31
THYM	IUPHAR	TSFM	CDK4	0.822114648	3.87E-31
THYM	Kinase	TSFM	CDK4	0.822114648	3.87E-31
THYM	TSG	TSFM	NME1	0.842707692	4.61E-34
UCS	Cell metabolism gene	TSFM	CYC1	0.803164656	9.18E-29
UCS	Cell metabolism gene	TSFM	GRPEL1	0.815735775	2.62E-30
UCS	Cell metabolism gene	TSFM	NME1	0.842707692	4.61E-34
UCS	CGC	TSFM	CDK4	0.822114648	3.87E-31
UCS	IUPHAR	TSFM	CDK4	0.822114648	3.87E-31
UCS	Kinase	TSFM	CDK4	0.822114648	3.87E-31
UCS	TSG	TSFM	NME1	0.842707692	4.61E-34

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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
STAD	TSFM	MTIF2	-1.91099017365555	0.000110303983092308
PRAD	TSFM	MTIF2	-2.91163945232732	0.000148819683073472
THCA	TSFM	MTIF2	1.01909960064239	0.00052377205169468
KICH	TSFM	MRRF	1.86992130954506	0.0014527440071106
KIRP	TSFM	GFM1	-3.60557651795202	0.00154796987771988
STAD	TSFM	MRPS16	-1.64208084987431	0.00239070039242506
KICH	TSFM	GFM1	1.05246565332639	0.00378090143203735
LIHC	TSFM	EIF5B	-2.20229681831546	0.00440340335695336
PRAD	TSFM	MRPS9	1.04379115553269	0.00496210155254694
HNSC	TSFM	MRPS16	-2.01564621821803	0.00518989327406416
COAD	TSFM	EIF5B	-1.84319839410667	0.0101850330829621
PRAD	TSFM	TUFM	-1.2256313171173	0.0103593733400852
KIRC	TSFM	MTIF2	-1.30575511475086	0.0182888755834972
ESCA	TSFM	EEF1A1	1.94762611248595	0.0185546875
STAD	TSFM	TUFM	-1.51047864320184	0.0216239951550961
LIHC	TSFM	EEF1A1	1.48788676140446	0.0227162265784831
CHOL	TSFM	TUFM	-1.80802756669144	0.02734375
LUAD	TSFM	EEF1A1	-3.86176112530422	0.02958519941608
LIHC	TSFM	MRRF	-1.19805818879659	0.0305924082275009
KICH	TSFM	MRPS22	1.59345779884986	0.0451226830482483
LUSC	TSFM	TUFM	-1.71731823082899	1.01729583501094e-06
LUAD	TSFM	PUS1	-2.33149816249926	1.55042044095848e-09
LUSC	TSFM	MRPS9	-3.60637641031661	1.82498668910368e-07
KICH	TSFM	PUS1	-1.07830972491459	1.82986259460449e-05
LUAD	TSFM	MRPS9	-1.32894454884901	1.98978698949574e-05
BRCA	TSFM	EEF1A1	-2.99170190120593	2.4485651456383e-20
PRAD	TSFM	MRRF	-1.56810957454655	2.74398347191128e-05
BRCA	TSFM	TUFM	-1.46208284468293	3.49579812063892e-10
LUAD	TSFM	MTIF2	-5.14356588709714	3.996080695583e-11
LUAD	TSFM	GFM1	-2.84901818322678	4.2869535120076e-07
BRCA	TSFM	GFM1	1.76831243345242	7.05963288731276e-10
LUAD	TSFM	TUFM	-2.06131065114905	7.73559543739736e-08
BRCA	TSFM	EIF5B	2.09894664144155	8.11370754946327e-13
KICH	TSFM	TUFM	1.55570480198217	8.80360603332519e-05
KIRP	TSFM	PUS1	-4.4419119304275	8.84756445884705e-09

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

PPI interactors with TSFM

MTRNR2L1, MRRF, ACOT13, CDV3, C1QBP, LIG4, SLC25A41, ACTL6A, CYP1A1, OXLD1, OFD1, FBF1, DCTN1, NDUFS3, NME4, CEP70, PPP1R12C, RALBP1, ATXN7L2, AMY1C, MTIF2, CST2, MRPL12, CST4, ZG16B, GTF2E2, PUS1, IGHA1, ATP5D, DLD, DLST, TRIM25, CDC34, MRM1, HSPD1, PDK1, TRMT61B, NR2C2, NIN, REXO2, PPIA, MINPP1, CARS2, ACSF2, DLAT, HSPA8, APEX1, BIRC3, MDFI, GAS8, CPLX2, CCDC89, KRTAP1-1, GOLGA6L9, PLEKHA4, HSCB, ANLN, KIF23, AUH, C21orf33, C6orf203, MCUR1, HINT2, ICT1, LRPPRC, MDH2, METTL17, MTG1, MTG2, MTIF3, PMPCA, RPUSD4, TACO1, TBRG4, TRUB2, AARS2, ABCB7, ACAD9, ACADM, ACADSB, ACADVL, ACAT1, ACO2, ACOT1, ACOT2, AFG3L2, AK3, AK4, ALAS1, ALDH1B1, ALDH4A1, ALYREF, ANGEL2, ATAD3A, ATP5B, ATP5C1, ATPIF1, ATP5J2-PTCD1, ATP5F1, ATP5H, ATP5J, ATP5O, ATPAF1, BCS1L, C17orf80, C7orf55-LUC7L2, C8orf82, CDK5RAP1, CLPP, CLPX, COQ5, COX4I1, COX5A, CS, DAP3, DBT, DCXR, DDX50, DDX54, DHTKD1, DHX30, DNAJA3, EARS2, ECH1, ECHS1, ECI2, ECSIT, ELAC2, ERAL1, ETFA, ETFB, FASTKD2, FASTKD5, FDX1, FLAD1, GADD45GIP1, GARS, GATB, GATC, GCDH, GFM1, GLS, GLUD1, GRPEL1, GRSF1, GTPBP10, GTPBP3, GUF1, HADH, HADHA, HARS2, HIBCH, HMGA1, HNRNPAB, HNRNPDL, HNRNPL, HNRNPUL1, HSD17B10, HSDL2, HSPA9, HSPE1, IARS2, IBA57, IDH3A, IMMT, ITPR3, KIAA0391, LARS2, LETM1, LONP1, LUC7L2, LYPLAL1, LYRM4, LYRM7, MALSU1, ME2, METTL15, MGME1, MMAB, RNMTL1, MRPL1, MRPL10, MRPL13, MRPL14, MRPL15, MRPL16, MRPL17, MRPL18, MRPL19, MRPL2, MRPL20, MRPL21, MRPL22, MRPL23, MRPL24, MRPL27, MRPL28, MRPL3, MRPL30, MRPL32, MRPL37, MRPL38, MRPL39, MRPL4, MRPL40, MRPL41, MRPL42, MRPL43, MRPL44, MRPL45, MRPL46, MRPL47, MRPL48, MRPL49, MRPL50, MRPL51, MRPL52, MRPL53, MRPL55, MRPL9, MRPS10, MRPS11, MRPS14, MRPS16, MRPS17, MRPS18A, MRPS18B, MRPS18C, MRPS2, MRPS22, MRPS23, MRPS24, MRPS25, MRPS26, MRPS27, MRPS28, MRPS30, MRPS31, MRPS33, MRPS34, MRPS35, MRPS36, MRPS5, MRPS6, MRPS7, MRPS9, MTERF3, MTHFD1L, MTHFD2, MTPAP, MTRF1, MTRF1L, NARS2, NDUFA12, NDUFA2, NDUFA5, NDUFA6, NDUFA7, NDUFA9, NDUFAB1, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF7, NDUFS1, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFS1, NGRN, NIPSNAP1, NNT, NT5DC2, NUBPL, NUDT19, OAT, OGDH, OGDHL, OXA1L, OXCT1, PAM16, PDE12, PDHA1, PDHB, PDHX, PDK3, PDPR, PHB, PHB2, PNPLA8, PNPT1, POLDIP2, POLG, POLRMT, PPA2, PPIF, PRDX3, PREPL, PTCD3, PYCR1, PYCR2, QRSL1, RBMX, RTN4IP1, SARS2, ACN9, SDHB, SHMT2, SLC2A1, SLC30A9, SLIRP, STOML2, SUCLA2, SUCLG1, SUPV3L1, TEFM, TFAM, THEM4, THG1L, THNSL1, TIMM44, TOP3A, TRMT10C, TRMT5, C10orf2, UBAC2, UQCC1, VARS2, VWA8, WARS2, YARS2, TUFM, MKI67, CDC42, COX8A, PTCD1, BBS1, DNAJB1, FTSJ2, DNAJB6, WIF1, SERBP1, FAHD1, NTNG1, SYT6, M, nsp1, nsp15, CALCOCO2,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
TSFM	chr12	58176420	C	T	single_nucleotide_variant	Benign	not_provided
TSFM	chr12	58176577	C	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
TSFM	chr12	58176586	T	G	single_nucleotide_variant	Uncertain_significance	Skeletal_myopathy	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant
TSFM	chr12	58176589	C	T	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSFM	chr12	58176591	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176594	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176596	G	T	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176608	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_3\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176611	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176611	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176614	T	C	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176615	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176616	T	TGGTC	Duplication	Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSFM	chr12	58176632	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176635	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176637	A	T	single_nucleotide_variant	Likely_benign	Encephalomyopathy_with_respiratory_failure_and_lactic_acidosis	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSFM	chr12	58176645	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58176648	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58176648	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58176797	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58176882	ATC	A	Microsatellite	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58176886	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58176888	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58176894	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSFM	chr12	58176904	T	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_3\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176911	C	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSFM	chr12	58176920	C	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSFM	chr12	58176937	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176940	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176943	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176949	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176952	T	A	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176952	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176961	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176961	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176967	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176975	A	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSFM	chr12	58176982	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176985	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58176996	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSFM	chr12	58177030	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58177042	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58177066	G	GGT	Microsatellite	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSFM	chr12	58177091	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58177292	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58179686	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58179736	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58179927	T	G	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58179938	A	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58179947	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSFM	chr12	58179966	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58179983	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSFM	chr12	58179985	T	G	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSFM	chr12	58180002	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58180005	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58180017	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58180035	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58180036	G	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSFM	chr12	58180038	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58180044	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSFM	chr12	58180059	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58180059	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58180069	G	C	single_nucleotide_variant			SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSFM	chr12	58180071	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58180809	A	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58180811	T	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_3\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58180834	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58180837	A	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58180857	TA	T	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSFM	chr12	58180865	C	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSFM	chr12	58180868	CTG	C	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSFM	chr12	58180870	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58180888	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58180915	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58180915	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58180921	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58180930	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58180933	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58180936	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58180939	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSFM	chr12	58185736	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58185770	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSFM	chr12	58185773	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSFM	chr12	58185792	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSFM	chr12	58185806	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSFM	chr12	58185822	A	G	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58185830	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58186474	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58186533	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58186594	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58186595	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58186758	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58186759	G	A	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58186759	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58186762	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58186763	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58186763	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58186768	G	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001574\|splice_acceptor_variant,SO:0001627\|intron_variant	SO:0001574\|splice_acceptor_variant,SO:0001627\|intron_variant
TSFM	chr12	58186801	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSFM	chr12	58186805	G	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSFM	chr12	58186818	GAGAAGGCTCACTCA	G	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant
TSFM	chr12	58186824	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSFM	chr12	58186828	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSFM	chr12	58186831	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSFM	chr12	58186842	T	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001627\|intron_variant
TSFM	chr12	58186865	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58186867	G	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58189951	C	CATT	Insertion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58189956	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58189970	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSFM	chr12	58189989	C	T	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_3	SO:0001587\|nonsense,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58189997	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190024	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190032	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190042	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190067	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190076	G	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190096	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190099	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190114	G	A	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190142	G	A	single_nucleotide_variant	Benign/Likely_benign	Combined_oxidative_phosphorylation_deficiency_3\|not_specified\|not_provided	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190148	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Encephalomyopathy_with_respiratory_failure_and_lactic_acidosis\|Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190150	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190175	A	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190180	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190183	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190184	C	A	single_nucleotide_variant	Benign/Likely_benign	Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190185	T	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190202	G	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190204	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190213	TG	T	Deletion	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001589\|frameshift_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190244	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Primary_dilated_cardiomyopathy\|Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001587\|nonsense,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190249	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190249	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190267	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190273	C	T	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190295	CAG	C	Deletion	Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190306	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190322	C	T	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_3\|Inborn_genetic_diseases\|not_provided	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190332	G	A	single_nucleotide_variant	Likely_pathogenic	Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190366	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190386	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190464	A	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190542	T	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190548	T	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190576	G	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190628	T	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190657	T	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190747	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190778	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190827	T	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190857	G	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190920	A	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190924	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58190927	A	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58191022	A	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58191232	T	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58191261	A	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_3	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58191324	C	G	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_3	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58191363	G	C	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_3	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58193448	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58195004	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58195773	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58195801	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSFM	chr12	58196118	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSFM	chr12	58196129	C	CA	Duplication	Pathogenic	Steroid-resistant_nephrotic_syndrome\|Nephrotic_syndrome,_type_21	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant
TSFM	chr12	58196447	G	A	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58196528	G	A	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_3\|not_provided	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
TSFM	chr12	58196802	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_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
TSFM	KIRP	chr12	58177005	58177005	C	T	Missense_Mutation	p.T57I	6
TSFM	CESC	chr12	58176614	58176614	T	C	Silent		6
TSFM	KIRP	chr12	58177005	58177005	C	T	Missense_Mutation		4
TSFM	UCEC	chr12	58190114	58190114	G	A	Silent	p.T242	4
TSFM	ESCA	chr12	58176601	58176601	C	T	Missense_Mutation	p.S6L	4
TSFM	UCEC	chr12	58190347	58190347	A	C	Missense_Mutation	p.E320A	3
TSFM	UCEC	chr12	58190000	58190000	G	A	Nonsense_Mutation	p.W204*	2
TSFM	STAD	chr12	58180066	58180066	T	C	Silent	p.L118L	2
TSFM	UCEC	chr12	58190019	58190019	T	A	Missense_Mutation	p.F211I	2
TSFM	UCEC	chr12	58190079	58190079	C	T	Silent	p.L231	2
TSFM	THYM	chr12	58176623	58176623	G	A	Silent		2
TSFM	ESCA	chr12	58180908	58180908	G	T	Missense_Mutation	p.C149F	2
TSFM	BRCA	chr12	58177049	58177049	G	A	Missense_Mutation	p.G72S	2
TSFM	UCEC	chr12	58180024	58180024	G	A	Missense_Mutation	p.E104K	2
TSFM	CESC	chr12	58190249	58190249	G	A	Silent		2
TSFM	ESCA	chr12	58176601	58176601	C	T	Missense_Mutation		2
TSFM	UCEC	chr12	58180838	58180838	G	T	Missense_Mutation	p.D126Y	2
TSFM	UCEC	chr12	58186838	58186838	C	A	Missense_Mutation	p.Q185K	2
TSFM	UCEC	chr12	58189990	58189990	G	A	Missense_Mutation	p.R201Q	2
TSFM	BLCA	chr12	58180834	58180834	G	C	Missense_Mutation		1
TSFM	LUAD	chr12	58176936	58176936	T	A	Missense_Mutation	p.F34Y	1
TSFM	CESC	chr12	58190249	58190249	G	A	Silent	p.P308	1
TSFM	SKCM	chr12	58180876	58180876	C	T	Silent	p.V138V	1
TSFM	KIRC	chr12	58190297	58190297	G	A	Silent	p.Q303Q	1
TSFM	BLCA	chr12	58180074	58180074	G	T	Missense_Mutation		1
TSFM	OV	chr12	56476573	56476573	G	A	Silent	p.S327	1
TSFM	COAD	chr12	58179974	58179976	AGA	-	In_Frame_Del	p.87_87del	1
TSFM	BLCA	chr12	58189979	58189979	G	A	Missense_Mutation		1
TSFM	PRAD	chr12	58190056	58190056	G	A	Missense_Mutation	p.S223N	1
TSFM	COAD	chr12	58190297	58190297	G	-	Frame_Shift_Del	p.Q324fs	1
TSFM	STAD	chr12	58176625	58176625	G	A	Missense_Mutation	p.R14Q	1
TSFM	BLCA	chr12	58190132	58190133	CC	-	Frame_Shift_Del		1
TSFM	SARC	chr12	58177050	58177050	G	T	Missense_Mutation		1
TSFM	COAD	chr12	58180851	58180851	G	A	Missense_Mutation	p.R130K	1
TSFM	LGG	chr12	58201166	58201166	G	A	Missense_Mutation		1
TSFM	BLCA	chr12	58180834	58180834	G	C	Missense_Mutation	p.E124D	1
TSFM	SARC	chr12	58190255	58190255	G	T	Missense_Mutation		1
TSFM	THYM	chr12	58176623	58176623	G	A	Silent	p.A13A	1
TSFM	LIHC	chr12	58190320	58190320	T	C	Missense_Mutation		1
TSFM	UCS	chr12	58177020	58177020	T	C	Missense_Mutation		1
TSFM	BLCA	chr12	58189979	58189979	G	A	Missense_Mutation	p.M197I	1
TSFM	SARC	chr12	58176991	58176991	G	T	Missense_Mutation		1
TSFM	THYM	chr12	58190043	58190043	G	T	Nonsense_Mutation	p.G240X	1
TSFM	LIHC	chr12	58186770	58186770	G	T	Missense_Mutation	p.G183V	1
TSFM	UCS	chr12	58177020	58177020	T	C	Missense_Mutation	p.V62A	1
TSFM	BLCA	chr12	58190132	58190133	CC	-	Frame_Shift_Del	p.L249fs	1
TSFM	SARC	chr12	58176991	58176991	G	T	Missense_Mutation	p.K52N	1
TSFM	ESCA	chr12	58196399	58196399	G	T	Missense_Mutation	p.Q211H	1
TSFM	LIHC	chr12	58180052	58180053	-	A	Frame_Shift_Ins	p.E113fs	1
TSFM	SARC	chr12	58200182	58200182	C	T	Silent		1
TSFM	ESCA	chr12	58196399	58196399	G	T	Missense_Mutation		1
TSFM	LIHC	chr12	58190091	58190091	G	-	Frame_Shift_Del	p.G235fs	1
TSFM	SKCM	chr12	58190272	58190272	C	T	Missense_Mutation	p.T316I	1
TSFM	LIHC	chr12	58190297	58190297	G	-	Frame_Shift_Del	p.Q303fs	1
TSFM	CESC	chr12	58179958	58179958	C	T	Missense_Mutation		1
TSFM	SKCM	chr12	58190340	58190340	G	A	Missense_Mutation	p.G318S	1
TSFM	ESCA	chr12	58180908	58180908	G	T	Missense_Mutation		1
TSFM	LIHC	chr12	58190316	58190316	T	-	Frame_Shift_Del	p.F310fs	1
TSFM	SKCM	chr12	58190272	58190272	C	T	Missense_Mutation	p.T295I	1
TSFM	KIRC	chr12	58190297	58190297	G	A	Silent	p.Q324Q	1

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

Fusion gene breakpoints (product of the structural variants (SVs)) across TSFM
* 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
96713	LUSC	TCGA-43-2581	AVIL	chr12	58197029	-	TSFM	chr12	58186768	+
96713	GBM	TCGA-41-5651-01A	B4GALNT1	chr12	58020445	-	TSFM	chr12	58189960	+
96713	SARC	TCGA-DX-AB2H-01A	B4GALNT1	chr12	58025698	-	TSFM	chr12	58186769	+
96713	GBM	TCGA-06-2570-01A	R3HDM2	chr12	57789532	-	TSFM	chr12	58176893	+
96713	GBM	TCGA-06-5859-01A	R3HDM2	chr12	57824503	-	TSFM	chr12	58189960	+
96713	SARC	TCGA-DX-A1L4-01A	SLC38A4	chr12	47173394	-	TSFM	chr12	58179946	+
96878	SKCM	TCGA-ER-A2NE-06A	TSFM	chr12	58180945	+	AVIL	chr12	58208009	-
99506	SARC	TCGA-3B-A9HO-01A	TSFM	chr12	58180945	+	C8orf34	chr8	69728121	+
94570	GBM	TCGA-19-5960-01A	TSFM	chr12	58180945	+	CCDC59	chr12	82617473	-
97219	GBM	TCGA-06-A7TK-01A	TSFM	chr12	58177066	+	CNOT2	chr12	70732223	+
101077	SARC	TCGA-3B-A9HO-01A	TSFM	chr12	58186856	+	CPM	chr12	69265736	-
101077	SARC	TCGA-DX-A3LS-01A	TSFM	chr12	58186856	+	CPM	chr12	69279669	-
101565	LGG	TCGA-E1-A7YD-01A	TSFM	chr12	58180944	+	CYP27B1	chr12	58159979	-
101565	LGG	TCGA-E1-A7YD-01A	TSFM	chr12	58180945	+	CYP27B1	chr12	58159980	-
94570	LGG	TCGA-VW-A8FI-01A	TSFM	chr12	58186856	+	DCTN2	chr12	57929628	-
94570	SARC	TCGA-DX-A1KZ	TSFM	chr12	58186856	+	DOCK2	chr5	169174399	+
94570	SARC	TCGA-DX-A1KZ-01A	TSFM	chr12	58186856	+	DOCK2	chr5	169174400	+
100437	SARC	TCGA-DX-A23Y-01A	TSFM	chr12	58186856	+	FRS2	chr12	69879982	+
94570	GBM	TCGA-06-0138-01A	TSFM	chr12	58180945	+	GLI1	chr12	57858456	+
97745	SKCM	TCGA-GN-A26D-06A	TSFM	chr12	58180074	+	HMGA2	chr12	66345163	+
94570	GBM	TCGA-06-5856-01A	TSFM	chr12	58180074	+	IFNG	chr12	68549145	-
94570	GBM	TCGA-41-5651	TSFM	chr12	58186856	+	INHBE	chr12	57849876	+
94570	GBM	TCGA-41-5651-01A	TSFM	chr12	58186856	+	INHBE	chr12	57849151	+
94570	GBM	TCGA-41-5651-01A	TSFM	chr12	58186856	+	INHBE	chr12	57849527	+
94570	GBM	TCGA-41-5651-01A	TSFM	chr12	58186856	+	INHBE	chr12	57849877	+
98988	N/A	AW578209	TSFM	chr12	58185051	-	JDP2	chr14	75936404	-
94570	SARC	TCGA-DX-AATS-01A	TSFM	chr12	58180945	+	LRRIQ1	chr12	85546058	+
94570	SARC	TCGA-SG-A6Z7-01A	TSFM	chr12	58180945	+	LRRIQ1	chr12	85517848	+
99977	GBM	TCGA-06-0138-01A	TSFM	chr12	58186856	+	LYZ	chr12	69743888	+
94570	LUAD	TCGA-64-5775-01A	TSFM	chr12	58180945	+	MARCH9	chr12	58151891	+
94570	SARC	TCGA-SG-A6Z7-01A	TSFM	chr12	58180945	+	METTL11B	chr1	170127110	+
94570	GBM	TCGA-06-2559-01A	TSFM	chr12	58177066	+	METTL21B	chr12	58166800	+
95583	GBM	TCGA-14-1034	TSFM	chr12	58186856	+	MX1	chr21	42821063	+
95583	GBM	TCGA-14-1034-02B	TSFM	chr12	58186856	+	MX1	chr21	42821064	+
94570	GBM	TCGA-19-2624	TSFM	chr12	58180945	+	NUP107	chr12	69103017	+
94570	GBM	TCGA-19-2624	TSFM	chr12	58186856	+	NUP107	chr12	69103017	+
94570	GBM	TCGA-19-2624-01A	TSFM	chr12	58180945	+	NUP107	chr12	69103018	+
94570	GBM	TCGA-19-2624-01A	TSFM	chr12	58186856	+	NUP107	chr12	69103018	+
102370	GBM	TCGA-06-0130-01A	TSFM	chr12	58186856	+	OS9	chr12	58109543	+
102370	GBM	TCGA-06-0130-01A	TSFM	chr12	58190168	+	OS9	chr12	58109543	+
102370	GBM	TCGA-41-5651-01A	TSFM	chr12	58180945	+	OS9	chr12	58109872	+
102370	HNSC	TCGA-CN-5359-01A	TSFM	chr12	58186856	+	OS9	chr12	58089745	+
94570	SARC	TCGA-DX-A2J0-01A	TSFM	chr12	58177066	+	RCSD1	chr1	167599480	+
94570	SARC	TCGA-DX-A2J0-01A	TSFM	chr12	58177066	+	RCSD1	chr1	167653137	+
99742	SARC	TCGA-DX-AB3A-01A	TSFM	chr12	58186856	+	RFWD2	chr1	175916375	-
100967	GBM	TCGA-28-5207-01A	TSFM	chr12	58191070	+	TJAP1	chr6	43473034	+
99988	GBM	TCGA-06-2558-01A	TSFM	chr12	58186856	+	XRCC6BP1	chr12	58339411	+
96713	LUAD	TCGA-50-5055-01A	TYW1	chr7	66463941	+	TSFM	chr12	58176893	+
96715	SARC	TCGA-DX-A6BG-01A	UHRF1BP1L	chr12	100522358	-	TSFM	chr12	58189960	+
96715	SARC	TCGA-DX-A7ES-01A	UHRF1BP1L	chr12	100536370	-	TSFM	chr12	58189960	+

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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	TSFM	0.00327836010477581	0.092
LUAD	TSFM	0.00623323711339205	0.17
SARC	TSFM	0.00831287996731614	0.22
KIRP	TSFM	0.0299749603911978	0.75
KICH	TSFM	0.0381616283321401	0.92

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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	TSFM	0.00385466832363968	0.12
LIHC	TSFM	0.0184441621259747	0.53
LUSC	TSFM	0.00173886045343027	0.056
THCA	TSFM	0.000440383728284303	0.015
LGG	TSFM	0.0264569069377833	0.74
THYM	TSFM	0.0162693408012511	0.49
SARC	TSFM	0.0270348837182487	0.74

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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
C1864840	Combined Oxidative Phosphorylation Deficiency 3	6	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT