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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: FASTKD2 (NCBI Gene ID:22868)

Gene Summary

Gene Summary

Gene Information	Gene Name: FASTKD2
	Gene ID: 22868
	Gene Symbol	FASTKD2
	Gene ID	22868
	Gene Name	FAST kinase domains 2
	Synonyms	KIAA0971
	Cytomap	2q33.3
	Type of Gene	protein-coding
	Description	FAST kinase domain-containing protein 2, mitochondrial
	Modification date	20200313
	UniProtAcc	Q9NYY8

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

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

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

Partner

Gene

GO ID

GO term

PubMed ID

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
FASTKD2	(733 - 1119.25]

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Translation Studies in PubMed

We searched PubMed using 'FASTKD2[title] AND translation [title] AND human.'

Gene	Title	PMID
FASTKD2	FASTKD2 is an RNA-binding protein required for mitochondrial RNA processing and translation	26370583

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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
ENST00000402774	207631367	207632194	5CDS-5UTR
ENST00000236980	207638948	207639121	Frame-shift
ENST00000402774	207638948	207639121	Frame-shift
ENST00000403094	207638948	207639121	Frame-shift
ENST00000236980	207651456	207651623	Frame-shift
ENST00000402774	207651456	207651623	Frame-shift
ENST00000403094	207651456	207651623	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
LIHC	FASTKD2	-2.17426498508978	0.0264015241133303
HNSC	FASTKD2	-1.72219345188751	0.0410440647583528
BRCA	FASTKD2	-1.95659368089906	4.12639478109604e-08

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Expression Regulation

Translation factor expression regulation through miRNA binding

Cancer type

Gene

miRNA

TargetScan binding score (Context++ score percentile)

Coefficient

Pvalue

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

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

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

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through copy number variation of Translation factor

Cancer type	Gene	Coefficient	Pvalue
PCPG	FASTKD2	0.162098384	0.000616581
READ	FASTKD2	-0.089370278	0.018030146
MESO	FASTKD2	0.105503781	0.025103696
LUSC	FASTKD2	0.116726019	0.027800771
UCEC	FASTKD2	0.115074516	0.033560316

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with FASTKD2 (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
UVM	Cell metabolism gene	FASTKD2	MED7	0.800156878	5.40E-19
UVM	Cell metabolism gene	FASTKD2	PSMC2	0.802647199	3.48E-19
UVM	Cell metabolism gene	FASTKD2	NANP	0.80347217	3.01E-19
UVM	Cell metabolism gene	FASTKD2	BPNT1	0.804155654	2.66E-19
UVM	Cell metabolism gene	FASTKD2	BPGM	0.804166751	2.66E-19
UVM	Cell metabolism gene	FASTKD2	HMGCR	0.804226839	2.63E-19
UVM	Cell metabolism gene	FASTKD2	CALM2	0.804294554	2.60E-19
UVM	Cell metabolism gene	FASTKD2	EPT1	0.806450264	1.76E-19
UVM	Cell metabolism gene	FASTKD2	PHAX	0.807772316	1.39E-19
UVM	Cell metabolism gene	FASTKD2	SPTLC1	0.808083323	1.31E-19
UVM	Cell metabolism gene	FASTKD2	MTMR6	0.809031242	1.10E-19
UVM	Cell metabolism gene	FASTKD2	POLR2B	0.809455333	1.02E-19
UVM	Cell metabolism gene	FASTKD2	CLOCK	0.811690946	6.72E-20
UVM	Cell metabolism gene	FASTKD2	RAP1B	0.812765812	5.50E-20
UVM	Cell metabolism gene	FASTKD2	SAR1B	0.814259432	4.15E-20
UVM	Cell metabolism gene	FASTKD2	PPAT	0.815233646	3.44E-20
UVM	Cell metabolism gene	FASTKD2	FUT8	0.815340973	3.38E-20
UVM	Cell metabolism gene	FASTKD2	ARFGEF2	0.816054996	2.94E-20
UVM	Cell metabolism gene	FASTKD2	IDH3A	0.816064455	2.94E-20
UVM	Cell metabolism gene	FASTKD2	LCLAT1	0.816181716	2.87E-20
UVM	Cell metabolism gene	FASTKD2	C1GALT1C1	0.81628584	2.82E-20
UVM	Cell metabolism gene	FASTKD2	IMPA1	0.816894074	2.51E-20
UVM	Cell metabolism gene	FASTKD2	MCEE	0.817770654	2.12E-20
UVM	Cell metabolism gene	FASTKD2	FBXL5	0.818977892	1.67E-20
UVM	Cell metabolism gene	FASTKD2	PSMD12	0.819878502	1.40E-20
UVM	Cell metabolism gene	FASTKD2	EDEM3	0.8219378	9.34E-21
UVM	Cell metabolism gene	FASTKD2	MDH1	0.822481209	8.38E-21
UVM	Cell metabolism gene	FASTKD2	TIMM17A	0.826026639	4.10E-21
UVM	Cell metabolism gene	FASTKD2	DLD	0.826564993	3.67E-21
UVM	Cell metabolism gene	FASTKD2	MGAT2	0.826869679	3.45E-21
UVM	Cell metabolism gene	FASTKD2	SLC25A32	0.829626711	1.95E-21
UVM	Cell metabolism gene	FASTKD2	GFPT1	0.830113605	1.76E-21
UVM	Cell metabolism gene	FASTKD2	LYPLA1	0.832642482	1.03E-21
UVM	Cell metabolism gene	FASTKD2	PSMC6	0.833075347	9.41E-22
UVM	Cell metabolism gene	FASTKD2	RPE	0.83478111	6.53E-22
UVM	Cell metabolism gene	FASTKD2	GPD2	0.836353857	4.64E-22
UVM	Cell metabolism gene	FASTKD2	PIK3C2A	0.838767147	2.73E-22
UVM	Cell metabolism gene	FASTKD2	HS2ST1	0.84055738	1.83E-22
UVM	Cell metabolism gene	FASTKD2	PSMA4	0.846936314	4.23E-23
UVM	Cell metabolism gene	FASTKD2	TGS1	0.866087977	3.37E-25
UVM	Cell metabolism gene	FASTKD2	PSME4	0.870029277	1.14E-25
UVM	Cell metabolism gene	FASTKD2	NUP50	0.874358265	3.30E-26
UVM	Cell metabolism gene	FASTKD2	TNPO1	0.880479909	5.31E-27
UVM	Cell metabolism gene	FASTKD2	XPO1	0.889932603	2.57E-28
UVM	Cell metabolism gene	FASTKD2	PSMD14	0.89894988	1.09E-29
UVM	CGC	FASTKD2	BMPR1A	0.801518647	4.25E-19
UVM	CGC	FASTKD2	KIF5B	0.810245882	8.80E-20
UVM	CGC	FASTKD2	RAD21	0.813120604	5.14E-20
UVM	CGC	FASTKD2	ZMYM2	0.813587699	4.71E-20
UVM	CGC	FASTKD2	SUZ12	0.814277736	4.13E-20
UVM	CGC	FASTKD2	RAD17	0.817568728	2.20E-20
UVM	CGC	FASTKD2	EZH2	0.819854935	1.41E-20
UVM	CGC	FASTKD2	SF3B1	0.821285834	1.06E-20
UVM	CGC	FASTKD2	BAZ1A	0.821761641	9.67E-21
UVM	CGC	FASTKD2	JAK2	0.825201973	4.85E-21
UVM	CGC	FASTKD2	CDC73	0.825346852	4.71E-21
UVM	CGC	FASTKD2	PMS1	0.830413603	1.65E-21
UVM	CGC	FASTKD2	CREB1	0.830639717	1.58E-21
UVM	CGC	FASTKD2	NBN	0.833855233	7.97E-22
UVM	CGC	FASTKD2	ATM	0.838868468	2.67E-22
UVM	CGC	FASTKD2	RABEP1	0.848807461	2.72E-23
UVM	CGC	FASTKD2	CUL3	0.851072927	1.58E-23
UVM	CGC	FASTKD2	FBXO11	0.853767272	8.17E-24
UVM	CGC	FASTKD2	XPO1	0.889932603	2.57E-28
UVM	Epifactor	FASTKD2	HMGB1	0.802788268	3.40E-19
UVM	Epifactor	FASTKD2	ACTR6	0.805214097	2.20E-19
UVM	Epifactor	FASTKD2	INO80D	0.805630569	2.04E-19
UVM	Epifactor	FASTKD2	NSL1	0.806730042	1.68E-19
UVM	Epifactor	FASTKD2	ATAD2B	0.807180509	1.54E-19
UVM	Epifactor	FASTKD2	TAF7	0.807502099	1.46E-19
UVM	Epifactor	FASTKD2	TAF5	0.810479285	8.42E-20
UVM	Epifactor	FASTKD2	CUL1	0.81063952	8.18E-20
UVM	Epifactor	FASTKD2	CLOCK	0.811690946	6.72E-20
UVM	Epifactor	FASTKD2	RLIM	0.813553953	4.74E-20
UVM	Epifactor	FASTKD2	ZMYM2	0.813587699	4.71E-20
UVM	Epifactor	FASTKD2	SUZ12	0.814277736	4.13E-20
UVM	Epifactor	FASTKD2	SMEK1	0.816578458	2.66E-20
UVM	Epifactor	FASTKD2	TLK1	0.817013746	2.45E-20
UVM	Epifactor	FASTKD2	MASTL	0.818535031	1.82E-20
UVM	Epifactor	FASTKD2	EZH2	0.819854935	1.41E-20
UVM	Epifactor	FASTKD2	SF3B1	0.821285834	1.06E-20
UVM	Epifactor	FASTKD2	TDG	0.82142636	1.03E-20
UVM	Epifactor	FASTKD2	BAZ1A	0.821761641	9.67E-21
UVM	Epifactor	FASTKD2	CUL2	0.823259499	7.17E-21
UVM	Epifactor	FASTKD2	JAK2	0.825201973	4.85E-21
UVM	Epifactor	FASTKD2	CDC73	0.825346852	4.71E-21
UVM	Epifactor	FASTKD2	UCHL5	0.82734653	3.13E-21
UVM	Epifactor	FASTKD2	ANP32E	0.828406907	2.51E-21
UVM	Epifactor	FASTKD2	AEBP2	0.828486645	2.47E-21
UVM	Epifactor	FASTKD2	USP15	0.828849727	2.29E-21
UVM	Epifactor	FASTKD2	CBX3	0.830489528	1.63E-21
UVM	Epifactor	FASTKD2	NBN	0.833855233	7.97E-22
UVM	Epifactor	FASTKD2	PHF20L1	0.833973625	7.77E-22
UVM	Epifactor	FASTKD2	CDK17	0.83833847	3.00E-22
UVM	Epifactor	FASTKD2	ATM	0.838868468	2.67E-22
UVM	Epifactor	FASTKD2	HAT1	0.839547922	2.29E-22
UVM	Epifactor	FASTKD2	SMARCA5	0.84925948	2.44E-23
UVM	Epifactor	FASTKD2	CUL3	0.851072927	1.58E-23
UVM	Epifactor	FASTKD2	TAF2	0.854672153	6.53E-24
UVM	Epifactor	FASTKD2	SMEK2	0.868821826	1.59E-25
UVM	IUPHAR	FASTKD2	RIOK2	0.800277825	5.29E-19
UVM	IUPHAR	FASTKD2	BMPR1A	0.801518647	4.25E-19
UVM	IUPHAR	FASTKD2	BMPR2	0.80413341	2.67E-19
UVM	IUPHAR	FASTKD2	HMGCR	0.804226839	2.63E-19
UVM	IUPHAR	FASTKD2	RPS6KC1	0.806837933	1.64E-19
UVM	IUPHAR	FASTKD2	ATAD2B	0.807180509	1.54E-19
UVM	IUPHAR	FASTKD2	SPTLC1	0.808083323	1.31E-19
UVM	IUPHAR	FASTKD2	CALCRL	0.810563176	8.29E-20
UVM	IUPHAR	FASTKD2	CLOCK	0.811690946	6.72E-20
UVM	IUPHAR	FASTKD2	USP14	0.811934924	6.42E-20
UVM	IUPHAR	FASTKD2	TNKS2	0.812200914	6.11E-20
UVM	IUPHAR	FASTKD2	MARK3	0.814755995	3.77E-20
UVM	IUPHAR	FASTKD2	MAP3K2	0.815159596	3.49E-20
UVM	IUPHAR	FASTKD2	PPAT	0.815233646	3.44E-20
UVM	IUPHAR	FASTKD2	IMPA1	0.816894074	2.51E-20
UVM	IUPHAR	FASTKD2	TLK1	0.817013746	2.45E-20
UVM	IUPHAR	FASTKD2	MASTL	0.818535031	1.82E-20
UVM	IUPHAR	FASTKD2	EZH2	0.819854935	1.41E-20
UVM	IUPHAR	FASTKD2	STK3	0.820891773	1.15E-20
UVM	IUPHAR	FASTKD2	BAZ1A	0.821761641	9.67E-21
UVM	IUPHAR	FASTKD2	ATP2B1	0.8234581	6.89E-21
UVM	IUPHAR	FASTKD2	JAK2	0.825201973	4.85E-21
UVM	IUPHAR	FASTKD2	VRK2	0.825647303	4.43E-21
UVM	IUPHAR	FASTKD2	ABCB10	0.825677739	4.40E-21
UVM	IUPHAR	FASTKD2	IDE	0.826684197	3.58E-21
UVM	IUPHAR	FASTKD2	SLC25A32	0.829626711	1.95E-21
UVM	IUPHAR	FASTKD2	ADAM17	0.829835051	1.87E-21
UVM	IUPHAR	FASTKD2	CSNK1A1	0.831868279	1.22E-21
UVM	IUPHAR	FASTKD2	STK17A	0.83371832	8.20E-22
UVM	IUPHAR	FASTKD2	XIAP	0.835148326	6.03E-22
UVM	IUPHAR	FASTKD2	NAPEPLD	0.838116911	3.15E-22
UVM	IUPHAR	FASTKD2	CDK17	0.83833847	3.00E-22
UVM	IUPHAR	FASTKD2	PIK3C2A	0.838767147	2.73E-22
UVM	IUPHAR	FASTKD2	ATM	0.838868468	2.67E-22
UVM	IUPHAR	FASTKD2	HAT1	0.839547922	2.29E-22
UVM	IUPHAR	FASTKD2	TBK1	0.845289044	6.21E-23
UVM	IUPHAR	FASTKD2	FBXO11	0.853767272	8.17E-24
UVM	IUPHAR	FASTKD2	MAPK6	0.855328837	5.54E-24
UVM	IUPHAR	FASTKD2	PRMT3	0.862756819	8.22E-25
UVM	IUPHAR	FASTKD2	ATP6V1C1	0.865739343	3.70E-25
UVM	IUPHAR	FASTKD2	MAP4K3	0.884352767	1.58E-27
UVM	IUPHAR	FASTKD2	XPO1	0.889932603	2.57E-28
UVM	IUPHAR	FASTKD2	PSMD14	0.89894988	1.09E-29
UVM	Kinase	FASTKD2	RIOK2	0.800277825	5.29E-19
UVM	Kinase	FASTKD2	BMPR1A	0.801518647	4.25E-19
UVM	Kinase	FASTKD2	BMPR2	0.80413341	2.67E-19
UVM	Kinase	FASTKD2	RPS6KC1	0.806837933	1.64E-19
UVM	Kinase	FASTKD2	MARK3	0.814755995	3.77E-20
UVM	Kinase	FASTKD2	MAP3K2	0.815159596	3.49E-20
UVM	Kinase	FASTKD2	TLK1	0.817013746	2.45E-20
UVM	Kinase	FASTKD2	MASTL	0.818535031	1.82E-20
UVM	Kinase	FASTKD2	STK3	0.820891773	1.15E-20
UVM	Kinase	FASTKD2	BAZ1A	0.821761641	9.67E-21
UVM	Kinase	FASTKD2	JAK2	0.825201973	4.85E-21
UVM	Kinase	FASTKD2	VRK2	0.825647303	4.43E-21
UVM	Kinase	FASTKD2	CSNK1A1	0.831868279	1.22E-21
UVM	Kinase	FASTKD2	STK17A	0.83371832	8.20E-22
UVM	Kinase	FASTKD2	CDK17	0.83833847	3.00E-22
UVM	Kinase	FASTKD2	ATM	0.838868468	2.67E-22
UVM	Kinase	FASTKD2	TBK1	0.845289044	6.21E-23
UVM	Kinase	FASTKD2	MAPK6	0.855328837	5.54E-24
UVM	Kinase	FASTKD2	MAP4K3	0.884352767	1.58E-27
UVM	TF	FASTKD2	ZNF675	0.80042605	5.15E-19
UVM	TF	FASTKD2	THAP5	0.801342175	4.39E-19
UVM	TF	FASTKD2	GPBP1	0.803619855	2.93E-19
UVM	TF	FASTKD2	ZNF267	0.80560852	2.05E-19
UVM	TF	FASTKD2	SP3	0.806755909	1.67E-19
UVM	TF	FASTKD2	ZBTB1	0.807153055	1.55E-19
UVM	TF	FASTKD2	ZNF43	0.807923233	1.35E-19
UVM	TF	FASTKD2	ZNF484	0.810590183	8.25E-20
UVM	TF	FASTKD2	CLOCK	0.811690946	6.72E-20
UVM	TF	FASTKD2	TERF1	0.814797087	3.74E-20
UVM	TF	FASTKD2	IKZF5	0.815149558	3.50E-20
UVM	TF	FASTKD2	TOPORS	0.81640472	2.75E-20
UVM	TF	FASTKD2	CEBPG	0.818811528	1.73E-20
UVM	TF	FASTKD2	ZKSCAN5	0.820329691	1.28E-20
UVM	TF	FASTKD2	ZNF780A	0.821383199	1.04E-20
UVM	TF	FASTKD2	ZBTB6	0.826112532	4.03E-21
UVM	TF	FASTKD2	AEBP2	0.828486645	2.47E-21
UVM	TF	FASTKD2	CREB1	0.830639717	1.58E-21
UVM	TF	FASTKD2	ZNF451	0.847615252	3.60E-23
UVM	TF	FASTKD2	CEBPZ	0.859233607	2.06E-24
UVM	TF	FASTKD2	PRMT3	0.862756819	8.22E-25
UVM	TSG	FASTKD2	PDS5B	0.800906414	4.74E-19
UVM	TSG	FASTKD2	BMPR1A	0.801518647	4.25E-19
UVM	TSG	FASTKD2	GORAB	0.802736117	3.43E-19
UVM	TSG	FASTKD2	BMPR2	0.80413341	2.67E-19
UVM	TSG	FASTKD2	PPP2R5C	0.804988784	2.29E-19
UVM	TSG	FASTKD2	WDR11	0.809104457	1.09E-19
UVM	TSG	FASTKD2	CUL1	0.81063952	8.18E-20
UVM	TSG	FASTKD2	SUZ12	0.814277736	4.13E-20
UVM	TSG	FASTKD2	TOPORS	0.81640472	2.75E-20
UVM	TSG	FASTKD2	EZH2	0.819854935	1.41E-20
UVM	TSG	FASTKD2	ANXA7	0.822048674	9.13E-21
UVM	TSG	FASTKD2	INTS6	0.822397098	8.52E-21
UVM	TSG	FASTKD2	CUL2	0.823259499	7.17E-21
UVM	TSG	FASTKD2	CDC73	0.825346852	4.71E-21
UVM	TSG	FASTKD2	MLH3	0.825827927	4.27E-21
UVM	TSG	FASTKD2	CSNK1A1	0.831868279	1.22E-21
UVM	TSG	FASTKD2	NBN	0.833855233	7.97E-22
UVM	TSG	FASTKD2	SMCHD1	0.836290298	4.70E-22
UVM	TSG	FASTKD2	NAPEPLD	0.838116911	3.15E-22
UVM	TSG	FASTKD2	ATM	0.838868468	2.67E-22
UVM	TSG	FASTKD2	GTPBP4	0.839188003	2.48E-22
UVM	TSG	FASTKD2	RINT1	0.847012055	4.15E-23

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Protein structure

Protein 3D structure
Visit iCn3D.

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Protein-Protein Interaction

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

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

* Edge colors based on TCGA cancer types.

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

Cancer type	Translation factor	Interacting protein coding gene	FC	adj.pval
KICH	FASTKD2	WBSCR16	1.5230976821616	0.000162303447723389
KICH	FASTKD2	PTCD1	-6.090490574251	0.000382499321847452
STAD	FASTKD2	WBSCR16	-1.13833861108984	0.000433447770774365
LIHC	FASTKD2	DDX28	-1.80556919949378	0.00268062725366399
KIRP	FASTKD2	JAKMIP1	-1.04323578660796	0.00337919034063816
KIRP	FASTKD2	FASTKD5	-2.82246868477649	0.00779616041108966
KICH	FASTKD2	TRUB2	-2.06154942711577	0.00882232189178467
STAD	FASTKD2	RPUSD4	-1.77759628022672	0.0148032568395138
ESCA	FASTKD2	TRUB2	-1.63055491619549	0.0185546875
CHOL	FASTKD2	TRUB2	-2.3070167517537	0.02734375
PRAD	FASTKD2	PTCD1	1.30597206825589	0.0298556903933808
KIRP	FASTKD2	DDX28	1.78729156338422	0.0309218638576567
STAD	FASTKD2	DDX28	-1.74473313280693	0.0309218638576567
HNSC	FASTKD2	RPUSD4	-3.64823171256213	1.42088565553422e-05
BRCA	FASTKD2	JAKMIP1	-4.00018023123516	1.62004412876552e-18
BRCA	FASTKD2	TRUB2	-2.53279756068983	1.7326162077773e-13
LUSC	FASTKD2	WBSCR16	-2.87043544276894	1.86041017272598e-07
LUSC	FASTKD2	TRUB2	-3.50473378801546	1.91629083762368e-08
LUSC	FASTKD2	FASTK	-2.43439895196901	2.86720468728312e-07
LUAD	FASTKD2	WBSCR16	-2.84505915400831	3.09848396407815e-08
PRAD	FASTKD2	NGRN	-1.95446330682921	3.16187259327918e-07
LUAD	FASTKD2	TRUB2	-1.92983802030623	3.47524877088934e-09
LUAD	FASTKD2	PTCD1	-2.59962414376334	4.36641792271383e-10
KICH	FASTKD2	DDX28	2.68166675030171	4.54187393188476e-05
LUAD	FASTKD2	FASTK	-1.83571364488645	8.14437520127672e-07
KIRC	FASTKD2	RPUSD4	-3.43456748913004	9.61177113723533e-08

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

PPI interactors with FASTKD2

ICT1, LIN28A, MAGEA1, ZC3H3, MRPL4, HNRNPA1, LYPD3, RBMX, APIP, CLTC, USP7, MRPL50, MCM2, NGRN, WBSCR16, TRUB2, RPUSD4, MRPL12, YARS2, ZNF324B, DPEP1, DDX28, MTERF3, RBM42, PTCD1, RNF157, RNF4, RECQL4, MYC, NR2C2, SNRNP70, BIRC3, PLEKHA4, DUSP1, SH2D3C, PARL, M, N, nsp16, ORF7b, IMMP2L, HSCB, GRSF1, ACAD9, AUH, C12orf65, C1QBP, C21orf33, C6orf203, MCUR1, CCDC90B, CHCHD1, CS, DHX30, ACAT1, ACOT1, ACOT2, AFG3L2, AIFM1, AK4, ALAS1, ATP5D, ATP5J2-PTCD1, ATP5H, ATP5O, ATPAF1, BCS1L, C17orf80, CARS2, DAP3, DLST, ECHS1, EIF2AK2, ELAC2, ERAL1, ETFA, ETFB, FASTKD5, GLS, HADH, HARS2, HNRNPUL1, HSPD1, IARS2, IBA57, KIAA0391, LETM1, LRPPRC, MDH2, ME2, MMAB, RNMTL1, MRPL13, MRPL15, MRPL19, MRPL20, MRPL21, MRPL22, MRPL24, MRPL28, MRPL3, MRPL38, MRPL39, MRPL41, MRPL42, MRPL43, MRPL44, MRPL45, MRPL46, MRPL48, MRPL49, MRPL52, MRPL53, MRPL9, MRPS10, MRPS11, MRPS14, MRPS16, MRPS17, MRPS18B, MRPS2, MRPS22, MRPS23, MRPS24, MRPS25, MRPS26, MRPS27, MRPS28, MRPS30, MRPS31, MRPS33, MRPS34, MRPS35, MRPS36, MRPS5, MRPS6, MRPS7, MRPS9, MTPAP, MYH10, NDUFA12, NDUFA2, NDUFA5, NDUFA6, NDUFA7, NDUFA9, NDUFAF2, NDUFAF4, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFS1, NME4, OGDH, PDK3, PDPR, PNPT1, POLRMT, POTEE, PPIF, PTCD3, PYCR1, PYCR2, SHMT2, SLIRP, SUPV3L1, TACO1, THEM4, TIMM44, TRMT10C, VWA8, GFM1, GFM2, HINT2, METTL15, METTL17, MRPL11, MRPS12, MRRF, MTFMT, MTG1, MTG2, MTIF2, MTIF3, MTRF1, MTRF1L, PMPCA, PMPCB, SSBP1, TBRG4, TSFM, TUFM, EXD2, CLPP, YWHAE, NR4A1, AARS2, COX8A, PDHA1, TRAP1, WDR5, RBM47, PABPC5, MAP7, PRR3, HNRNPU, GLI4, MRPL30, MRPL2, GYPA, CBX6, FAM120A, OCIAD1, NUPL2, TNFRSF10C, YBX2, IGF2BP3, FTL, YBX1, MSI1, RBMS2, SRSF3, MCAT, ABT1, SRSF6, DCAF8, RBM3, ZNF346, ZNF574, ILF2, SRSF7, CIRBP, RBMS3, NEIL1, MRPL51, FAHD1, MRPS18A, ZNF524, SQSTM1,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
FASTKD2	chr2	207630093	C	A	single_nucleotide_variant	Benign	not_provided
FASTKD2	chr2	207630251	T	C	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency
FASTKD2	chr2	207630271	T	C	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency
FASTKD2	chr2	207630302	G	C	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency
FASTKD2	chr2	207630306	T	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency
FASTKD2	chr2	207630332	A	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
FASTKD2	chr2	207630338	C	T	single_nucleotide_variant	Benign	Mitochondrial_complex_IV_deficiency\|not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
FASTKD2	chr2	207630341	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
FASTKD2	chr2	207630359	T	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
FASTKD2	chr2	207630360	C	T	single_nucleotide_variant	Benign/Likely_benign	Mitochondrial_complex_IV_deficiency\|not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
FASTKD2	chr2	207630363	G	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
FASTKD2	chr2	207630372	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
FASTKD2	chr2	207630392	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Mitochondrial_complex_IV_deficiency\|not_provided	SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
FASTKD2	chr2	207630398	G	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
FASTKD2	chr2	207630471	A	G	single_nucleotide_variant	Benign/Likely_benign	not_specified\|not_provided	SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
FASTKD2	chr2	207631291	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207631381	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
FASTKD2	chr2	207631388	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Mitochondrial_complex_IV_deficiency\|not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
FASTKD2	chr2	207631403	A	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
FASTKD2	chr2	207631446	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Mitochondrial_complex_IV_deficiency\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207631461	G	A	single_nucleotide_variant	Benign	Mitochondrial_complex_IV_deficiency\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207631483	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
FASTKD2	chr2	207631493	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Mitochondrial_complex_IV_deficiency\|Combined_oxidative_phosphorylation_deficiency_44\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207631566	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Mitochondrial_complex_IV_deficiency\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207631599	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207631609	T	C	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
FASTKD2	chr2	207631642	A	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
FASTKD2	chr2	207631651	T	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207631678	T	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207631715	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207631736	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207631773	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207631869	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207631891	ACTGT	A	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
FASTKD2	chr2	207631902	A	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207631944	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207631975	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
FASTKD2	chr2	207632019	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207632030	C	T	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_44	SO:0001587\|nonsense	SO:0001587\|nonsense
FASTKD2	chr2	207632099	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
FASTKD2	chr2	207632100	A	C	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207632101	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Mitochondrial_complex_IV_deficiency\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207632129	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207632165	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
FASTKD2	chr2	207632173	G	A	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
FASTKD2	chr2	207632181	T	C	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_44	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207632208	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207632212	T	C	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207632364	C	CTAGT	Insertion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207634845	C	CTTTCAGTTTTG	Duplication	Pathogenic	Leigh_syndrome\|Combined_oxidative_phosphorylation_deficiency_44	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
FASTKD2	chr2	207634869	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207634886	C	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
FASTKD2	chr2	207634905	C	T	single_nucleotide_variant	Pathogenic	Leigh_syndrome\|Combined_oxidative_phosphorylation_deficiency_44	SO:0001587\|nonsense	SO:0001587\|nonsense
FASTKD2	chr2	207634909	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207634917	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
FASTKD2	chr2	207635178	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207635222	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207635239	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207635594	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207635770	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207635781	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207635903	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207635934	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207635935	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Mitochondrial_complex_IV_deficiency\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207635969	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
FASTKD2	chr2	207635989	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207636003	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207636518	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207636550	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207636605	G	A	single_nucleotide_variant	Benign	Mitochondrial_complex_IV_deficiency\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207636605	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Mitochondrial_complex_IV_deficiency\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207636626	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
FASTKD2	chr2	207636644	AT	A	Deletion	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
FASTKD2	chr2	207636656	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
FASTKD2	chr2	207636661	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207636690	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207636707	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
FASTKD2	chr2	207636717	G	A	single_nucleotide_variant	Benign/Likely_benign	Mitochondrial_complex_IV_deficiency\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207636771	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207636895	A	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207636977	A	G	single_nucleotide_variant	Benign/Likely_benign	Mitochondrial_complex_IV_deficiency\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207636983	A	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207637009	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207637053	A	C	single_nucleotide_variant	Benign/Likely_benign	Mitochondrial_complex_IV_deficiency\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207637364	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207638888	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207638894	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207638933	A	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207638942	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207638988	C	T	single_nucleotide_variant	Pathogenic	Mitochondrial_complex_IV_deficiency\|Combined_oxidative_phosphorylation_deficiency_44	SO:0001587\|nonsense	SO:0001587\|nonsense
FASTKD2	chr2	207638989	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Mitochondrial_complex_IV_deficiency\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207639047	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Mitochondrial_complex_IV_deficiency\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
FASTKD2	chr2	207639083	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Mitochondrial_complex_IV_deficiency\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
FASTKD2	chr2	207639089	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
FASTKD2	chr2	207639132	G	GT	Duplication	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207639133	T	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207651444	C	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207651464	G	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Mitochondrial_complex_IV_deficiency\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207651530	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207651588	T	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207651644	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207651782	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207652696	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207652756	C	T	single_nucleotide_variant	Pathogenic	Mitochondrial_complex_IV_deficiency	SO:0001587\|nonsense	SO:0001587\|nonsense
FASTKD2	chr2	207652789	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207652844	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207652893	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207653455	C	CA	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207653455	C	CAA	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207653455	CA	C	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207653490	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207653587	CT	C	Deletion	Pathogenic	Leigh_syndrome\|Combined_oxidative_phosphorylation_deficiency_44	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
FASTKD2	chr2	207653594	A	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207653599	G	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207653614	A	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207653627	G	T	single_nucleotide_variant	Likely_pathogenic	Mitochondrial_complex_IV_deficiency	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207653653	G	A	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_44\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207653701	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207653719	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207653770	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207653892	CAATATT	C	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207655016	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207655221	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207655347	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
FASTKD2	chr2	207655375	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207655389	A	C	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
FASTKD2	chr2	207655390	A	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207655415	G	GA	Duplication	Benign/Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207655561	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207655578	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207655589	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207655628	ATGT	A	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207655691	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207656076	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207656393	CTT	C	Deletion	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
FASTKD2	chr2	207656411	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Mitochondrial_complex_IV_deficiency\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207656434	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207656467	A	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207656486	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Mitochondrial_complex_IV_deficiency\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
FASTKD2	chr2	207656516	G	GCA	Microsatellite	Uncertain_significance	not_specified	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
FASTKD2	chr2	207656517	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
FASTKD2	chr2	207656535	T	C	single_nucleotide_variant	Benign	Mitochondrial_complex_IV_deficiency\|not_specified	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207656584	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207656613	A	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207656630	A	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207656685	C	A	single_nucleotide_variant	Likely_benign	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207656783	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207656854	T	C	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207656925	T	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207656977	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657083	A	G	single_nucleotide_variant	Benign	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657111	G	C	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657150	C	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657153	T	C	single_nucleotide_variant	Benign	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657198	T	A	single_nucleotide_variant	Benign	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657325	C	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657339	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657536	T	C	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657562	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657684	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657685	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657706	G	C	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657728	A	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657741	G	A	single_nucleotide_variant	Benign	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657790	C	CA	Duplication	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657821	C	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657861	G	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657871	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657932	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657941	T	G	single_nucleotide_variant	Likely_benign	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657944	CAAAAAAAAAAAA	C	Deletion	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657972	A	C	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657976	T	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657978	C	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207657990	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658000	A	AC	Duplication	Likely_benign	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658020	A	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658044	A	AG	Duplication	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658104	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658105	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658147	A	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658226	A	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658242	A	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658409	T	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658507	C	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658531	GAA	G	Deletion	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658547	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658595	T	A	single_nucleotide_variant	Benign	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658611	G	C	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658632	GT	G	Deletion	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658633	T	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658667	G	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658824	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658842	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658847	T	TAC	Microsatellite	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658857	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658872	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658900	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658954	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658957	C	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207658989	T	C	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659014	T	C	single_nucleotide_variant	Benign	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659156	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659402	A	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659411	C	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659463	A	C	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659486	T	C	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659520	A	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659523	A	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659531	A	G	single_nucleotide_variant	Benign	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659606	C	A	single_nucleotide_variant	Likely_benign	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659638	A	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659647	T	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659661	T	C	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659757	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659764	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659823	C	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659844	G	C	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659881	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659906	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659955	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659976	G	C	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659979	A	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659996	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207659998	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660028	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660068	C	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660085	G	A	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660118	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660119	G	A	single_nucleotide_variant	Likely_benign	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660203	G	T	single_nucleotide_variant	Likely_benign	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660209	G	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660236	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660256	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660301	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660388	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660422	A	C	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660516	G	C	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660535	G	A	single_nucleotide_variant	Likely_benign	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660668	T	C	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660725	G	C	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660727	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660748	A	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660763	A	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660792	G	A	single_nucleotide_variant	Likely_benign	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660852	C	T	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
FASTKD2	chr2	207660886	A	G	single_nucleotide_variant	Uncertain_significance	Mitochondrial_complex_IV_deficiency	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_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
FASTKD2	LUAD	chr2	207635937	207635937	G	C	Missense_Mutation	p.E305Q	5
FASTKD2	PAAD	chr2	207655375	207655375	C	T	Missense_Mutation	p.R660W	4
FASTKD2	SKCM	chr2	207636626	207636626	C	T	Silent	p.A333A	4
FASTKD2	BRCA	chr2	207656516	207656516	G	C	Missense_Mutation	p.S708T	4
FASTKD2	PAAD	chr2	207631704	207631704	G	T	Missense_Mutation	p.S96I	3
FASTKD2	PRAD	chr2	207636634	207636634	A	-	Frame_Shift_Del	p.E336fs	3
FASTKD2	KIRP	chr2	207655323	207655323	T	C	Silent	p.S642S	3
FASTKD2	ACC	chr2	207635989	207635989	C	T	Missense_Mutation	p.P322L	3
FASTKD2	BRCA	chr2	207636961	207636961	G	C	Missense_Mutation	p.D391H	3
FASTKD2	ACC	chr2	207655353	207655353	A	G	Silent	p.R652R	3
FASTKD2	BRCA	chr2	207639085	207639085	C	T	Missense_Mutation	p.S464F	3
FASTKD2	PAAD	chr2	207631743	207631743	C	T	Missense_Mutation	p.A109V	3
FASTKD2	CESC	chr2	207636005	207636005	G	A	Silent		2
FASTKD2	LUAD	chr2	207652733	207652733	G	C	Missense_Mutation	p.R556T	2
FASTKD2	UCEC	chr2	207638989	207638989	G	A	Missense_Mutation	p.R432Q	2
FASTKD2	LIHC	chr2	207634821	207634821	A	G	Missense_Mutation		2
FASTKD2	HNSC	chr2	207651558	207651558	A	T	Missense_Mutation	p.Y510F	2
FASTKD2	UCEC	chr2	207639088	207639088	C	A	Missense_Mutation	p.S465Y	2
FASTKD2	LIHC	chr2	207655393	207655393	G	T	Missense_Mutation		2
FASTKD2	COAD	chr2	207655368	207655368	G	T	Missense_Mutation	p.M657I	2
FASTKD2	LUAD	chr2	207631781	207631781	C	T	Missense_Mutation	p.P122S	2
FASTKD2	UCEC	chr2	207639120	207639120	G	T	Nonsense_Mutation	p.E476*	2
FASTKD2	LIHC	chr2	207655393	207655393	G	T	Missense_Mutation	p.G666C	2
FASTKD2	KIRC	chr2	207639092	207639092	C	A	Silent	p.L466L	2
FASTKD2	UCEC	chr2	207651463	207651463	C	T	Silent	p.F478	2
FASTKD2	UCEC	chr2	207652671	207652671	G	T	Missense_Mutation	p.K535N	2
FASTKD2	ESCA	chr2	207652825	207652825	G	T	Nonsense_Mutation	p.G587X	2
FASTKD2	STAD	chr2	207655404	207655404	G	A	Silent	p.V669V	2
FASTKD2	BLCA	chr2	207636741	207636741	G	T	Splice_Site	p.D372Y	2
FASTKD2	LIHC	chr2	207634821	207634821	A	G	Missense_Mutation	p.I262V	2
FASTKD2	SKCM	chr2	207651540	207651540	C	T	Missense_Mutation	p.S504L	2
FASTKD2	STAD	chr2	207651571	207651571	T	A	Silent	p.A514A	2
FASTKD2	BRCA	chr2	207638973	207638973	G	A	Missense_Mutation	p.E427K	2
FASTKD2	SKCM	chr2	207655359	207655359	C	T	Silent	p.F654F	2
FASTKD2	PAAD	chr2	207631704	207631704	G	T	Missense_Mutation		2
FASTKD2	STAD	chr2	207636937	207636937	A	T	Missense_Mutation	p.I383F	2
FASTKD2	LUAD	chr2	207631989	207631989	T	C	Missense_Mutation	p.I191T	2
FASTKD2	PAAD	chr2	207631743	207631743	C	T	Missense_Mutation		2
FASTKD2	SKCM	chr2	207631569	207631569	C	T	Missense_Mutation	p.P51L	2
FASTKD2	UCEC	chr2	207631601	207631601	A	C	Missense_Mutation	p.N62H	2
FASTKD2	UCEC	chr2	207632019	207632019	G	A	Missense_Mutation	p.R201H	2
FASTKD2	LIHC	chr2	207651563	207651563	C	-	Frame_Shift_Del	p.P512fs	1
FASTKD2	SKCM	chr2	207655340	207655340	C	T	Missense_Mutation	p.S648L	1
FASTKD2	HNSC	chr2	207631831	207631831	A	C	Missense_Mutation	p.E138D	1
FASTKD2	THCA	chr2	207655349	207655349	C	A	Missense_Mutation		1
FASTKD2	BLCA	chr2	207652752	207652752	C	T	Silent		1
FASTKD2	READ	chr2	207638988	207638988	C	T	Nonsense_Mutation	p.R432X	1
FASTKD2	COAD	chr2	207638984	207638984	C	T	Silent	p.G430G	1
FASTKD2	LIHC	chr2	207634852	207634852	T	-	Frame_Shift_Del	p.V272fs	1
FASTKD2	SKCM	chr2	207632153	207632153	C	T	Nonsense_Mutation	p.Q246*	1
FASTKD2	LUAD	chr2	207636950	207636950	A	T	Missense_Mutation	p.Q387L	1
FASTKD2	THCA	chr2	207636699	207636699	C	A	Silent		1
FASTKD2	READ	chr2	207653617	207653617	G	T	Missense_Mutation	p.D630Y	1
FASTKD2	BLCA	chr2	207636741	207636741	G	T	Missense_Mutation		1
FASTKD2	LIHC	chr2	207651591	207651591	A	-	Frame_Shift_Del	p.Q521fs	1
FASTKD2	SKCM	chr2	207652766	207652766	G	C	Missense_Mutation	p.R567P	1
FASTKD2	HNSC	chr2	207631494	207631494	G	T	Missense_Mutation	p.W26L	1
FASTKD2	PAAD	chr2	207636969	207636969	G	A	Silent	p.Q393Q	1
FASTKD2	THYM	chr2	207652763	207652763	C	A	Missense_Mutation		1
FASTKD2	SARC	chr2	207631459	207631459	G	T	Missense_Mutation		1
FASTKD2	BLCA	chr2	207634869	207634869	G	C	Missense_Mutation	p.E278Q	1
FASTKD2	DLBC	chr2	207631446	207631446	G	C	Missense_Mutation	p.S10T	1
FASTKD2	LIHC	chr2	207631570	207631570	A	-	Frame_Shift_Del	p.P51fs	1
FASTKD2	SKCM	chr2	207636625	207636625	C	T	Missense_Mutation	p.A333V	1
FASTKD2	MESO	chr2	207636934	207636934	A	G	Missense_Mutation	p.M382V	1
FASTKD2	PAAD	chr2	207631976	207631976	G	A	Missense_Mutation	p.A187T	1
FASTKD2	THYM	chr2	207655341	207655341	A	G	Silent		1
FASTKD2	SARC	chr2	207634910	207634910	G	T	Silent		1
FASTKD2	BLCA	chr2	207636720	207636720	G	A	Missense_Mutation	p.E365K	1
FASTKD2	LIHC	chr2	207652780	207652780	T	C	Missense_Mutation	p.S572P	1
FASTKD2	DLBC	chr2	207632128	207632128	C	T	Silent	p.H237H	1
FASTKD2	LIHC	chr2	207632054	207632054	T	-	Frame_Shift_Del	p.F213fs	1
FASTKD2	STAD	chr2	207655404	207655404	G	A	Silent		1
FASTKD2	KIRP	chr2	207655298	207655298	T	C	Missense_Mutation	p.V634A	1
FASTKD2	OV	chr2	207360933	207360933	A	G	Missense_Mutation		1
FASTKD2	THYM	chr2	207656494	207656494	G	T	Missense_Mutation		1
FASTKD2	SARC	chr2	207631478	207631478	G	T	Missense_Mutation		1
FASTKD2	BLCA	chr2	207652752	207652752	C	T	Silent	p.L562L	1
FASTKD2	LIHC	chr2	207639082	207639082	A	C	Missense_Mutation	p.Y463S	1
FASTKD2	LIHC	chr2	207636645	207636645	T	-	Frame_Shift_Del	p.F340fs	1
FASTKD2	PRAD	chr2	207638988	207638988	C	G	Missense_Mutation	p.R432G	1
FASTKD2	THYM	chr2	207636981	207636981	G	T	Missense_Mutation		1
FASTKD2	ESCA	chr2	207638961	207638961	C	A	Missense_Mutation	p.L423I	1
FASTKD2	LUAD	chr2	207652825	207652825	G	T	Nonsense_Mutation	p.G587*	1
FASTKD2	OV	chr2	207636734	207636734	G	C	Silent	p.V369V	1
FASTKD2	KIRP	chr2	207631966	207631966	C	A	Missense_Mutation	p.N183K	1
FASTKD2	PRAD	chr2	207631944	207631944	C	T	Missense_Mutation	p.A176V	1
FASTKD2	THYM	chr2	207636981	207636981	G	T	Missense_Mutation	p.L397F	1
FASTKD2	LIHC	chr2	207638999	207638999	T	-	Frame_Shift_Del	p.G435fs	1
FASTKD2	HNSC	chr2	207631494	207631494	G	T	Missense_Mutation		1
FASTKD2	LUAD	chr2	207652826	207652826	G	T	Missense_Mutation	p.G587V	1
FASTKD2	KIRP	chr2	207655323	207655323	T	C	Silent		1
FASTKD2	READ	chr2	207631715	207631715	G	A	Missense_Mutation	p.A100T	1
FASTKD2	THYM	chr2	207655341	207655341	A	G	Silent	p.S648S	1
FASTKD2	LIHC	chr2	207631429	207631429	T	-	Frame_Shift_Del	p.T4fs	1
FASTKD2	HNSC	chr2	207651558	207651558	A	T	Missense_Mutation		1
FASTKD2	STAD	chr2	207652863	207652863	A	G	Silent	p.P599P	1
FASTKD2	LIHC	chr2	207631461	207631461	G	A	Missense_Mutation		1
FASTKD2	READ	chr2	207651563	207651563	C	T	Missense_Mutation	p.P512S	1
FASTKD2	UCEC	chr2	207651516	207651516	A	T	Missense_Mutation	p.E496V	1
FASTKD2	LIHC	chr2	207631711	207631711	A	-	Frame_Shift_Del	p.L98fs	1
FASTKD2	HNSC	chr2	207631831	207631831	A	C	Missense_Mutation		1
FASTKD2	LUAD	chr2	207651527	207651527	G	T	Missense_Mutation	p.D500Y	1
FASTKD2	PAAD	chr2	207655375	207655375	C	T	Missense_Mutation		1
FASTKD2	STAD	chr2	207655332	207655332	T	C	Silent	p.C645C	1
FASTKD2	BLCA	chr2	207634869	207634869	G	C	Missense_Mutation		1
FASTKD2	LIHC	chr2	207652754	207652754	C	T	Missense_Mutation		1
FASTKD2	READ	chr2	207652842	207652842	C	T	Silent	p.F592F	1
FASTKD2	LIHC	chr2	207631754	207631754	T	-	Frame_Shift_Del	p.F114fs	1
FASTKD2	SKCM	chr2	207631874	207631874	C	T	Missense_Mutation	p.R153C	1
FASTKD2	HNSC	chr2	207634815	207634815	G	A	Splice_Site	p.E260_splice	1
FASTKD2	STAD	chr2	207652863	207652863	A	G	Silent		1
FASTKD2	BLCA	chr2	207636720	207636720	G	A	Missense_Mutation		1
FASTKD2	LIHC	chr2	207634862	207634862	T	C	Silent		1
FASTKD2	READ	chr2	207631617	207631617	G	T	Missense_Mutation	p.R67I	1

Copy number variation (CNV) of FASTKD2
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across FASTKD2
* 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
19308	BRCA	TCGA-A8-A09Q-01A	CREB1	chr2	208435045	+	FASTKD2	chr2	207651457	+
95562	N/A	BM151847	FASTKD2	chr2	207631555	+	CHODL	chr21	19351069	-
31554	Non-Cancer	ERR315389	FASTKD2	chr2	207655410	+	CPO	chr2	207814341	+
88211	N/A	DA378651	FASTKD2	chr2	207630683	+	NVL	chr1	224500289	-
102250	N/A	FN172321	FASTKD2	chr2	207643386	+	SMAD2	chr18	45367850	-

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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	FASTKD2	0.000895655949463862	0.025
MESO	FASTKD2	0.00236305964511676	0.064
BLCA	FASTKD2	0.00312284352510908	0.081
KIRC	FASTKD2	0.00473454230411746	0.12
KIRP	FASTKD2	0.00572037691306857	0.14
LUAD	FASTKD2	0.0148256163604299	0.34
SARC	FASTKD2	0.028128779135094	0.62

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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
STAD	FASTKD2	0.036330592111218	1
KICH	FASTKD2	0.0334109967910824	1
BRCA	FASTKD2	0.0127275665751121	0.41
PAAD	FASTKD2	0.00177202098995886	0.058
THYM	FASTKD2	0.0290731166125984	0.9

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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
C0268237	Cytochrome-c Oxidase Deficiency	2	CTD_human;GENOMICS_ENGLAND
C4755278	FASTKD2-related infantile mitochondrial encephalomyopathy	1	ORPHANET