Hs01891086_cn

• Gene Symbol: PRPF31
• Assay Reference Genome Location: Chr.19:54123469 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 5 - Exon 6

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