Hs02655223_cn

• Gene Symbol: PRPF40B
• Assay Reference Genome Location: Chr.12:49633465 on build GRCh38
• Cytoband: 12q13.12

Target Gene Details

• Entrez Gene ID: 25766
• Gene Name: pre-mRNA processing factor 40 homolog B
• Gene Aliases: HYPC
• Location: Chr.12:49622717-49644669 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PRPF40B	NM_001031698.2	8	675	NP_001026868.2
	NM_012272.2	7	965	NP_036404.1
	XM_006719324.3	7	1729	XP_006719387.1
	XM_006719325.3	7	1729	XP_006719388.1
	XM_011538135.2	7	1729	XP_011536437.1
	XM_011538136.2	7	1729	XP_011536438.1
	XM_011538137.2	6	1648	XP_011536439.1
	XM_011538138.2	6	1618	XP_011536440.1
	XM_011538139.2	8	669	XP_011536441.1
	XM_011538140.2	8	669	XP_011536442.1
	XM_011538141.1	7	495	XP_011536443.1
	XM_011538143.2	7	511	XP_011536445.1
	XM_011538144.2	6	384	XP_011536446.1
	XM_017019135.1	7	432	XP_016874624.1
	XM_017019136.1	6	384	XP_016874625.1
	XM_017019137.1	6	384	XP_016874626.1
	XM_017019138.1	7	1729	XP_016874627.1
	XM_017019139.1	3	395	XP_016874628.1
	AF049525.1	6	329	AAC27503.1
	AK123353.1	5	1339
	AL834216.1	7	965	CAD38898.1
	BC050398.2	8	511	AAH50398.1
	BC067364.1	7	496	AAH67364.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832406	Chr.12:49466910 - 49668353 on Build GRCh38	Loss	MCRS1 SPATS2 FMNL3 FAM186B LOC100422296 KCNH3 PRPF40B

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

mRNA splicing, via spliceosome

Function(s)

RNA binding