SF3B1 splicing factor 3b subunit 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
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Information

Symbol: SF3B1
Type: protein-coding
Description: splicing factor 3b subunit 1
Entrez Gene ID: 23451
Genome: hg19
Position: chr2:198,254,508-198,299,752
Genome: hg38
Position: chr2:197,389,784-197,435,028
MIM: 605590 OMIM
HGNC: HGNC:10768 HGNC
Ensembl: ENSG00000115524 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	1	4
Likely pathogenic	1	32
Benign	0	30
Likely benign	0	16
Conflicting classifications of pathogenicity	0	2
not provided	84	2
Uncertain significance	1	22

Ranking

	ClinVar
	0
	0
	16
	50
	28

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

Search Word

Target data	:	MGeND data only
Category	:
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Filtering	:

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	Hsh155
SYNONYM	MDS
SYNONYM	PRP10
SYNONYM	PRPF10
SYNONYM	SAP155
SYNONYM	SF3b155
MIM	605590 OMIM
HGNC	HGNC:10768 HGNC
Ensembl	ENSG00000115524 Ensembl
AllianceGenome	HGNC:10768

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000414963.2	hg38	chr2	197,418,796	197,435,079	16,284
ENST00000487698.5	hg38	chr2	197,418,796	197,435,079	16,284
ENST00000335508.11	hg38	chr2	197,389,784	197,435,028	45,245
ENST00000335508.11	hg19	chr2	198,254,508	198,299,752	45,245
ENST00000414963.2	hg19	chr2	198,283,520	198,299,803	16,284
ENST00000487698.5	hg19	chr2	198,283,520	198,299,803	16,284

Key	Value
strand	-
start	198,256,697
Vogelstein	OG
Gene Symbol	SF3B1
Entrez GeneId	23,451
Chr Band	2q33.1
end	198,299,816
chr	chr2
Name	splicing factor 3b, subunit 1, 155kDa

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