Assay Details
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 8 |
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 OSCAR VSTM1 TARM1 TFPT PRPF31 |
nsv515623 | Chr.19:54102901 - 54179150 on Build GRCh38 | Loss | NDUFA3 LENG1 TMC4 MBOAT7 TFPT PRPF31 CNOT3 |
nsv953613 | Chr.19:54097214 - 54198733 on Build GRCh38 | Deletion | NDUFA3 OSCAR LENG1 TMC4 MBOAT7 TFPT PRPF31 CNOT3 TSEN34 |
esv2718812 | Chr.19:53184636 - 54322450 on Build GRCh38 | Deletion | MIR520C VN1R2 MYADM LILRB5 MIR527 MIR526A2 MIR516B2 MIR521-1 MIR516B1 MIR520D MIR520F MIR520H MIR520G MIR526B TSEN34 ZNF331 MIR371B LENG1 MIR517A MIR512-1 MIR512-2 MIR525 DPRX PRPF31 ZNF665 MIR515-1 ZNF525 MIR518F LILRA6 MIR372 LOC284379 TFPT MIR518C MIR4752 MIR520A LOC105372457 CNOT3 NDUFA3 MIR515-2 VN1R4 MIR517B OSCAR MIR519C MBOAT7 CACNG7 LILRB3 FAM90A27P MIR526A1 MIR519E VSTM1 TARM1 PRKCG MIR516A1 MIR371A ZNF677 LILRB2 ZNF761 BIRC8 ZNF813 ZNF818P MIR520E MIR518B MIR518A1 MIR517C MIR523 LILRA5 MIR518A2 MIR498 MIR519A2 MIR373 MIR1283-1 TMC4 TPM3P9 MIR519A1 MIR935 MIR518D MIR519D MIR519B MIR520B MIR524 CACNG8 RPS9 MIR518E MIR516A2 MIR521-2 CACNG6 MIR522 MIR1323 ZNF765 NLRP12 MIR1283-2 ZNF845 |
nsv470157 | Chr.19:54063999 - 54127773 on Build GRCh38 | Loss | NDUFA3 OSCAR TARM1 TFPT PRPF31 |
nsv2545 | Chr.19:54122949 - 54142607 on Build GRCh38 | Insertion | PRPF31 CNOT3 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |