Assay Details
Target Gene Details
Entrez Gene ID: | 6150 |
Gene Name: | mitochondrial ribosomal protein L23 |
Gene Aliases: |
L23MRP, RPL23, RPL23L |
Location: |
Chr.11:1947272-2013176 on Build GRCh38 |
Assay Gene Location: | Within Intron 14 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MRPL23 | XM_011520276.2 | XP_011518578.1 | ||
AK128774.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv522320 | Chr.11:1835882 - 1996938 on Build GRCh38 | Loss | HOTS MIR675 SNORD131 TNNT3 LSP1 MRPL23-AS1 MIR7847 LINC01219 LINC01150 MIR4298 TNNI2 SYT8 H19 MRPL23 |
nsv1047474 | Chr.11:1803515 - 2043381 on Build GRCh38 | Gain | HOTS MIR675 SNORD131 TNNT3 LSP1 MRPL23-AS1 MIR7847 LINC01219 LINC01150 MIR4298 TNNI2 SYT8 H19 MRPL23 |
dgv1016n100 | Chr.11:1946041 - 2043381 on Build GRCh38 | Gain | HOTS MIR675 MRPL23-AS1 LINC01219 SNORD131 H19 MRPL23 |
nsv553064 | Chr.11:1943082 - 2001669 on Build GRCh38 | Loss | HOTS MIR675 MRPL23-AS1 LINC01219 SNORD131 H19 MRPL23 |
nsv516622 | Chr.11:1927731 - 1993479 on Build GRCh38 | Loss | HOTS MRPL23-AS1 LINC01219 SNORD131 TNNT3 MRPL23 |
nsv469926 | Chr.11:1813024 - 2036416 on Build GRCh38 | Loss | HOTS MIR675 SNORD131 TNNT3 LSP1 MRPL23-AS1 MIR7847 LINC01219 LINC01150 MIR4298 TNNI2 SYT8 H19 MRPL23 |
nsv951283 | Chr.11:1913571 - 2040070 on Build GRCh38 | Deletion | HOTS MIR675 MRPL23-AS1 LINC01219 SNORD131 H19 TNNT3 MRPL23 |
esv29980 | Chr.11:1820597 - 2097889 on Build GRCh38 | Loss | HOTS MIR675 SNORD131 TNNT3 LSP1 MRPL23-AS1 MIR7847 LINC01219 LINC01150 MIR4298 TNNI2 SYT8 H19 MRPL23 |
nsv553047 | Chr.11:1733170 - 2418537 on Build GRCh38 | Gain | HOTS MIR675 MIR4686 IGF2-AS IFITM10 C11orf21 LSP1 CD81-AS1 MRPL23-AS1 LINC01219 TH LINC01150 MIR4298 TNNI2 SYT8 INS ASCL2 INS-IGF2 SNORD131 TSSC4 TNNT3 IGF2 TSPAN32 CD81 MIR7847 TRPM5 H19 MIR483 MRPL23 CTSD |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |