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 | TNNT3 MIR4298 H19 MIR7847 SNORD131 MIR675 SYT8 MRPL23-AS1 LINC01219 TNNI2 MRPL23 HOTS LINC01150 LSP1 |
nsv1047474 | Chr.11:1803515 - 2043381 on Build GRCh38 | Gain | TNNT3 MIR4298 H19 MIR7847 SNORD131 MIR675 SYT8 MRPL23-AS1 LINC01219 TNNI2 MRPL23 HOTS LINC01150 LSP1 |
dgv1016n100 | Chr.11:1946041 - 2043381 on Build GRCh38 | Gain | HOTS H19 SNORD131 MIR675 MRPL23-AS1 LINC01219 MRPL23 |
nsv553064 | Chr.11:1943082 - 2001669 on Build GRCh38 | Loss | HOTS H19 SNORD131 MIR675 MRPL23-AS1 LINC01219 MRPL23 |
nsv516622 | Chr.11:1927731 - 1993479 on Build GRCh38 | Loss | HOTS TNNT3 SNORD131 MRPL23-AS1 LINC01219 MRPL23 |
nsv469926 | Chr.11:1813024 - 2036416 on Build GRCh38 | Loss | TNNT3 MIR4298 H19 MIR7847 SNORD131 MIR675 SYT8 MRPL23-AS1 LINC01219 TNNI2 MRPL23 HOTS LINC01150 LSP1 |
nsv951283 | Chr.11:1913571 - 2040070 on Build GRCh38 | Deletion | HOTS TNNT3 H19 SNORD131 MIR675 MRPL23-AS1 LINC01219 MRPL23 |
esv29980 | Chr.11:1820597 - 2097889 on Build GRCh38 | Loss | TNNT3 MIR4298 H19 MIR7847 SNORD131 MIR675 SYT8 MRPL23-AS1 LINC01219 TNNI2 MRPL23 HOTS LINC01150 LSP1 |
nsv553047 | Chr.11:1733170 - 2418537 on Build GRCh38 | Gain | TSPAN32 TNNT3 H19 CD81 INS MIR7847 SYT8 LINC01219 MRPL23 IGF2 HOTS LSP1 ASCL2 IFITM10 MIR483 MIR4298 TSSC4 C11orf21 SNORD131 MIR675 MRPL23-AS1 TNNI2 CTSD TRPM5 INS-IGF2 LINC01150 MIR4686 IGF2-AS TH CD81-AS1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |