ETV4 ETS variant transcription factor 4

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: ETV4
Type: protein-coding
Description: ETS variant transcription factor 4
Entrez Gene ID: 2118
Genome: hg19
Position: chr17:41,605,214-41,623,708
Genome: hg38
Position: chr17:43,527,846-43,546,340
MIM: 600711 OMIM
HGNC: HGNC:3493 HGNC
Ensembl: ENSG00000175832 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Likely pathogenic	0	2
Benign	0	26
Likely benign	0	10
Uncertain significance	0	70

Ranking

	ClinVar
	0
	0
	2
	104
	2

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

[No Data.]

Locus Zoom

Variants

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

Search Word

Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	E1A-F
SYNONYM	E1AF
SYNONYM	PEA3
SYNONYM	PEAS3
MIM	600711 OMIM
HGNC	HGNC:3493 HGNC
Ensembl	ENSG00000175832 Ensembl
AllianceGenome	HGNC:3493

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000545954.5	hg38	chr17	43,528,278	43,546,323	18,046
ENST00000319349.10	hg38	chr17	43,527,846	43,546,340	18,495
ENST00000393664.6	hg38	chr17	43,527,846	43,545,671	17,826
ENST00000538265.5	hg38	chr17	43,527,844	43,545,937	18,094
ENST00000586826.1	hg38	chr17	43,528,499	43,530,434	1,936
ENST00000591713.5	hg38	chr17	43,528,337	43,545,899	17,563
ENST00000545089.5	hg38	chr17	43,528,280	43,545,713	17,434
ENST00000538265.5	hg19	chr17	41,605,212	41,623,305	18,094
ENST00000393664.6	hg19	chr17	41,605,214	41,623,039	17,826
ENST00000319349.10	hg19	chr17	41,605,214	41,623,708	18,495
ENST00000545954.5	hg19	chr17	41,605,646	41,623,691	18,046
ENST00000545089.5	hg19	chr17	41,605,648	41,623,081	17,434
ENST00000591713.5	hg19	chr17	41,605,705	41,623,267	17,563
ENST00000586826.1	hg19	chr17	41,605,867	41,607,802	1,936

Key	Value
strand	-
start	41,605,210
Gene Symbol	ETV4
Entrez GeneId	2,118
Chr Band	17q21
end	41,623,799
chr	chr17
Name	ets variant gene 4 (E1A enhancer binding protein, E1AF)

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