Hs07130003_cn

• Gene Symbol: PRPF31
• Assay Reference Genome Location: Chr.19:54116629 on build GRCh38
• Cytoband: 19q13.42

Target Gene Details

• Entrez Gene ID: 26121
• Gene Name: pre-mRNA processing factor 31
• Gene Aliases: NY-BR-99, PRP31, RP11, SNRNP61
• Location: Chr.19:54115410-54131719 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PRPF31	NM_015629.3			NP_056444.3
	XM_006723137.3			XP_006723200.1
	AB593024.1	1	829
	AB593025.1
	AK098547.1			BAC05329.1
	AK301709.1
	AL050369.1			CAB43677.1
	AY040822.1			AAK77986.1
	BC117389.1
	CN306666.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv510773	Chr.19:54017180 - 54132236 on Build GRCh38	Deletion	PRPF31 VSTM1 OSCAR NDUFA3 TARM1 TFPT
nsv515623	Chr.19:54102901 - 54179150 on Build GRCh38	Loss	PRPF31 TMC4 MBOAT7 LENG1 CNOT3 NDUFA3 TFPT
nsv953613	Chr.19:54097214 - 54198733 on Build GRCh38	Deletion	PRPF31 TMC4 MBOAT7 TSEN34 OSCAR LENG1 CNOT3 NDUFA3 TFPT
esv2718812	Chr.19:53184636 - 54322450 on Build GRCh38	Deletion	MIR518A1 BIRC8 MIR515-2 MIR520G MBOAT7 MIR526A2 MIR519C MIR518C ZNF665 TPM3P9 MIR1283-2 CACNG8 LOC284379 ZNF845 TSEN34 LILRA6 OSCAR MIR526A1 MIR518A2 MIR519D MIR525 ZNF818P MIR521-1 MIR524 LOC105372457 MIR519A1 CACNG6 ZNF761 VN1R4 CNOT3 MIR520F MIR1283-1 VN1R2 MIR519A2 MIR523 VSTM1 MIR516B2 DPRX LILRB5 NDUFA3 MIR516A2 LILRA5 MIR518B MIR517A ZNF677 PRPF31 MIR518E MIR520C MIR516B1 MIR526B MIR518D MIR373 MIR521-2 LILRB3 MIR4752 FAM90A27P ZNF813 MIR520H TMC4 CACNG7 ZNF525 MIR520B LENG1 MYADM TARM1 TFPT MIR517C ZNF765 MIR512-2 MIR520D MIR520A MIR371A MIR516A1 MIR515-1 MIR498 MIR527 MIR371B MIR519E MIR512-1 LILRB2 MIR519B MIR517B MIR935 MIR518F NLRP12 MIR372 ZNF331 RPS9 PRKCG MIR522 MIR520E MIR1323
nsv470157	Chr.19:54063999 - 54127773 on Build GRCh38	Loss	PRPF31 OSCAR NDUFA3 TARM1 TFPT
nsv833877	Chr.19:53951529 - 54117323 on Build GRCh38	Loss	PRPF31 CACNG6 VSTM1 MIR935 OSCAR NDUFA3 TARM1 CACNG8 TFPT

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA splicing factor

Gene Ontology Categories:

Process(es)

spliceosomal tri-snRNP complex assembly
mRNA splicing, via spliceosome
snoRNA localization
ribonucleoprotein complex localization

Function(s)

protein binding
U4 snRNA binding
U4atac snRNA binding
ribonucleoprotein complex binding
poly(A) RNA binding
snRNP binding