ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

SF3B1

Full Name:

splicing factor 3b, subunit 1, 155kDa

Alias:

PRP10|PRPF10|SAP155|SF3b155

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

2q33.1

Physical Location:

197964942-198008015 on NC_000002.10, complement

Gene Type:

protein-coding

Orthologs:

This gene has Mouse: 81898 ortholog(s) in other dataset(s).

Gene in Ethanol Study Datasets

Linkage Dataset

Marker

LOD

P value

Location (bp)

D2S117

195326948

Region:		195326948-216757195
Phenotype:		Alcoholism phenotype along with age, gender, and P300 or constraint
Name:		15211641
Method:		Linkage
Publication:		Hill et al. Am J Med Genet B Neuropsychiatr Genet. (2004) A genome wide search for alcoholism susceptibility genes. PubMed
Summary:		A total of 360 markers for 22 autosomes were spaced at an average distance of 9.4cMand genotyping performed for 330 members of these multiplex families. Extensive clinical data, personality variation, and event-related potential characteristics were available for reducing heterogeneity and detecting robust linkage signals. Multipoint linkage analysis using different analytic strategies give strong support for loci on chromosomes 1, 2, 6, 7, 10, 12, 14, 16, and 17. Thirty five markers with LOD score >2.0 at baseline using the binary alcoholism phenotype along with age, gender, and P300 or constraint (Table III). Here we listed the genes between two near markers or genes near a separate marker (within 2Mb).

Gene Refseq Sequence Annotation

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005634	nucleus	Cellular Component	IEA
GO:0005681	spliceosome	Cellular Component	NAS (9585501)
GO:0016607	nuclear speck	Cellular Component	IEA
GO:0005515	protein binding	Molecular Function	IPI (17353931)
GO:0031202	RNA splicing factor activity, transesterification mechanism	Molecular Function	NAS (9585501)
GO:0000398	nuclear mRNA splicing, via spliceosome	Biological Process	EXP (12226669)
GO:0000398	nuclear mRNA splicing, via spliceosome	Biological Process	NAS (9585501)
GO:0008380	RNA splicing	Biological Process	IEA