Hs01672584_cn

• Gene Symbol: PRPF31
• Assay Reference Genome Location: Chr.19:54126582 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: Overlaps Intron 8 - Exon 9

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
	AB593025.1
	AF308303.1			AAG48270.1
	AK098547.1			BAC05329.1
	AK301709.1
	AL050369.1			CAB43677.1
	AY040822.1			AAK77986.1
	BC117389.1

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	NDUFA3 VSTM1 OSCAR PRPF31 TARM1 TFPT
nsv515623	Chr.19:54102901 - 54179150 on Build GRCh38	Loss	CNOT3 TMC4 NDUFA3 MBOAT7 PRPF31 TFPT LENG1
nsv953613	Chr.19:54097214 - 54198733 on Build GRCh38	Deletion	CNOT3 TMC4 NDUFA3 OSCAR MBOAT7 PRPF31 TSEN34 TFPT LENG1
esv2718812	Chr.19:53184636 - 54322450 on Build GRCh38	Deletion	MIR521-1 CACNG8 MIR524 MIR518A1 FAM90A27P LILRB3 NLRP12 ZNF845 ZNF677 PRPF31 MIR522 MYADM ZNF765 ZNF761 MIR519A2 MIR4752 VN1R4 MIR526A2 MIR518A2 MIR526B VSTM1 MIR520H MIR1323 MIR516A2 MIR516A1 TPM3P9 LILRA5 MIR520F MIR518C MIR525 MIR518B TMC4 CACNG7 BIRC8 MIR517A MIR517B ZNF525 LENG1 MIR520G MIR527 MIR516B1 DPRX VN1R2 RPS9 LILRB2 MIR371B MIR523 MBOAT7 TSEN34 CACNG6 MIR516B2 ZNF818P LOC105372457 MIR512-1 ZNF331 PRKCG NDUFA3 MIR520C MIR1283-2 MIR520E MIR520B MIR526A1 MIR520A MIR520D MIR519C MIR518F MIR519B LILRA6 OSCAR MIR519E MIR521-2 MIR515-1 TFPT LOC284379 ZNF813 MIR371A MIR373 MIR1283-1 MIR519A1 MIR515-2 TARM1 MIR935 MIR518E LILRB5 CNOT3 MIR517C MIR498 MIR372 ZNF665 MIR519D MIR512-2 MIR518D
nsv470157	Chr.19:54063999 - 54127773 on Build GRCh38	Loss	NDUFA3 OSCAR PRPF31 TARM1 TFPT
nsv2545	Chr.19:54122949 - 54142607 on Build GRCh38	Insertion	CNOT3 PRPF31

More Information

• Set Membership: Intragenic, 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