Hs00915840_cn

• Gene Symbol: SF3A1
• Assay Reference Genome Location: Chr.22:30334458 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	2673	NP_005868.1
	AK098463.1	9	1439
	AK303273.1	17	2598
	BC001976.1	16	2613	AAH01976.1
	BC007684.2	16	2640	AAH07684.1
	CR456575.1			CAG30461.1
	X85237.1			CAA59494.1

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	OSM GATSL3 LIF MGC20647 SF3A1 TBC1D10A
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	SEC14L4 PES1 LIF MTFP1 SEC14L3 GAL3ST1 SLC35E4 SF3A1 TBC1D10A SDC4P KIAA1656 RNF215 OSM GATSL3 SEC14L6 HORMAD2 SEC14L2 CCDC157 TCN2 MGC20647

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