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 Exon 14 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PRPF31 | NM_015629.3 | 14 | 2092 | NP_056444.3 |
XM_006723137.3 | 14 | 2002 | XP_006723200.1 | |
AB593024.1 | 14 | 3097 | ||
AB593025.1 | 14 | 1748 | ||
AF308303.1 | 11 | 1757 | AAG48270.1 | |
AK098547.1 | 11 | 1322 | BAC05329.1 | |
AK301709.1 | 14 | 1689 | ||
AL050369.1 | 14 | 1731 | CAB43677.1 | |
AY040822.1 | 14 | 2053 | AAK77986.1 | |
CB854773.1 | 1 | 110 |
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 NDUFA3 VSTM1 OSCAR TFPT TARM1 |
nsv515623 | Chr.19:54102901 - 54179150 on Build GRCh38 | Loss | PRPF31 NDUFA3 LENG1 MBOAT7 CNOT3 TMC4 TFPT |
nsv953613 | Chr.19:54097214 - 54198733 on Build GRCh38 | Deletion | PRPF31 NDUFA3 LENG1 MBOAT7 CNOT3 TSEN34 TMC4 OSCAR TFPT |
esv2718812 | Chr.19:53184636 - 54322450 on Build GRCh38 | Deletion | CACNG7 NDUFA3 MIR518B BIRC8 MIR519A2 MIR515-1 MIR1323 OSCAR TFPT LOC105372457 LILRA5 MIR518E MIR516B2 MIR935 MIR519A1 TMC4 ZNF813 DPRX MIR515-2 MIR519E MIR518F MIR526A2 MIR520B MIR516A1 FAM90A27P MIR520E MIR518C MIR512-2 ZNF665 ZNF331 MIR519D TARM1 MBOAT7 MIR512-1 MIR517A LOC284379 MIR371A MIR520G MIR520A MIR527 MIR1283-2 MIR516B1 ZNF525 PRPF31 MIR522 ZNF845 ZNF818P MIR518D MIR519B VN1R2 MYADM CACNG6 MIR521-2 MIR523 CACNG8 MIR525 ZNF761 MIR526B PRKCG MIR520F MIR520D MIR524 MIR4752 MIR520H MIR373 VN1R4 MIR1283-1 MIR372 CNOT3 MIR521-1 MIR517C MIR516A2 LILRB3 TPM3P9 VSTM1 MIR517B LILRB5 LILRB2 LENG1 MIR498 NLRP12 TSEN34 MIR518A1 RPS9 MIR520C MIR519C LILRA6 MIR371B ZNF765 MIR518A2 MIR526A1 ZNF677 |
nsv2545 | Chr.19:54122949 - 54142607 on Build GRCh38 | Insertion | PRPF31 CNOT3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |