EML4 EMAP like 4

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Information
Clinical Significance
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Frequency
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Information

Symbol: EML4
Type: protein-coding
Description: EMAP like 4
Entrez Gene ID: 27436
Genome: hg19
Position: chr2:42,396,601-42,558,014
Genome: hg38
Position: chr2:42,169,461-42,330,874
MIM: 607442 OMIM
HGNC: HGNC:1316 HGNC
Ensembl: ENSG00000143924 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	8
Likely benign	0	12
not provided	32	0
Uncertain significance	0	124

Ranking

	ClinVar
	0
	0
	0
	144
	0

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

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
Category	:
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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	C2orf2
SYNONYM	ELP120
SYNONYM	EMAP-4
SYNONYM	EMAPL4
SYNONYM	ROPP120
MIM	607442 OMIM
HGNC	HGNC:1316 HGNC
Ensembl	ENSG00000143924 Ensembl
AllianceGenome	HGNC:1316

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000401738.3	hg38	chr2	42,169,461	42,330,874	161,414
ENST00000318522.10	hg38	chr2	42,169,353	42,332,548	163,196
ENST00000402711.6	hg38	chr2	42,169,353	42,330,744	161,392
ENST00000402711.6	hg19	chr2	42,396,493	42,557,884	161,392
ENST00000318522.10	hg19	chr2	42,396,493	42,559,688	163,196
ENST00000401738.3	hg19	chr2	42,396,601	42,558,014	161,414

Key	Value
strand	+
start	42,396,477
Gene Symbol	EML4
Entrez GeneId	27,436
Chr Band	2p21
end	42,559,687
chr	chr2
Name	echinoderm microtubule associated protein like 4

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