Hs01017625_cn

• Gene Symbol: SF3A1
• Assay Reference Genome Location: Chr.22:30333358 on build GRCh38
• Cytoband: 22q12.2

Target Gene Details

• Entrez Gene ID: 10291
• Gene Name: splicing factor 3a subunit 1
• Gene Aliases: PRP21, PRPF21, SAP114, SF3A120
• Location: Chr.22:30331988-30356947 on Build GRCh38
• Assay Gene Location: Within Exon 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SF3A1	NM_005877.5	16	3773	NP_005868.1
	AV750569.1	1	456
	BQ212479.1	1	130
	BQ223575.1	1	302

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv834174	Chr.22:30223771 - 30350926 on Build GRCh38	Gain+Loss	MGC20647 GATSL3 SF3A1 TBC1D10A OSM LIF
nsv1064350	Chr.22:30328159 - 30346136 on Build GRCh38	Gain	SF3A1
nsv3593	Chr.22:30309991 - 30355133 on Build GRCh38	Deletion	SF3A1 TBC1D10A
nsv829171	Chr.22:30202041 - 30647591 on Build GRCh38	Loss	GAL3ST1 SF3A1 PES1 SLC35E4 OSM KIAA1656 CCDC157 RNF215 MGC20647 HORMAD2 GATSL3 SEC14L3 SEC14L2 TCN2 TBC1D10A MTFP1 SDC4P SEC14L4 SEC14L6 LIF

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA splicing factor

Gene Ontology Categories:

Process(es)

regulation of alternative mRNA splicing, via spliceosome
mRNA 3'-splice site recognition
mRNA splicing, via spliceosome
mRNA processing

Function(s)

RNA binding
protein binding
poly(A) RNA binding