FUS FUS RNA binding protein

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: FUS
Type: protein-coding
Description: FUS RNA binding protein
Entrez Gene ID: 2521
Genome: hg19
Position: chr16:31,191,460-31,202,926
Genome: hg38
Position: chr16:31,180,139-31,191,605
MIM: 137070 OMIM
HGNC: HGNC:4010 HGNC
Ensembl: ENSG00000089280 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	12	56
Likely pathogenic	0	22
Benign	4	148
Likely benign	0	344
Conflicting classifications of pathogenicity	0	44
Uncertain significance	2	438

Ranking

	ClinVar
	0
	0
	158
	776
	14

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

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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

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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	ALS6
SYNONYM	ETM4
SYNONYM	FUS1
SYNONYM	HNRNPP2
SYNONYM	POMP75
SYNONYM	TLS
SYNONYM	altFUS
MIM	137070 OMIM
HGNC	HGNC:4010 HGNC
Ensembl	ENSG00000089280 Ensembl
AllianceGenome	HGNC:4010

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000568685.1	hg38	chr16	31,180,151	31,191,575	11,425
ENST00000380244.8	hg38	chr16	31,180,139	31,196,963	16,825
ENST00000254108.12	hg38	chr16	31,180,139	31,191,605	11,467
ENST00000715542.1	hg38	chr16	31,180,139	31,191,605	11,467
ENST00000715542.1	hg19	chr16	31,191,460	31,202,926	11,467
ENST00000254108.12	hg19	chr16	31,191,460	31,202,926	11,467
ENST00000380244.8	hg19	chr16	31,191,460	31,208,284	16,825
ENST00000568685.1	hg19	chr16	31,191,472	31,202,896	11,425

Key	Value
strand	+
UniProt	OG
start	31,191,430
Gene Symbol	FUS
Entrez GeneId	2,521
Chr Band	16p11.2
end	31,206,191
chr	chr16
Name	fusion, derived from t(12;16) malignant liposarcoma

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