Hs01272268_cn

• Gene Symbol: MRPS34
• Assay Reference Genome Location: Chr.16:1771928 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 65993
• Gene Name: mitochondrial ribosomal protein S34
• Gene Aliases: MRP-S12, MRP-S34, MRPS12
• Location: Chr.16:1771889-1773151 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MRPS34	NM_001300900.1			NP_001287829.1
	NM_023936.1			NP_076425.1
	XM_017023595.1			XP_016879084.1
	BC001182.1			AAH01182.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv571169	Chr.16:1729694 - 1789022 on Build GRCh38	Loss	SPSB3 MRPS34 EME2 NME3 MIR3177 NUBP2 MAPK8IP3
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	MCRIP2 DECR2 PDPK1 NDUFB10 BAIAP3 CAPN15 RPL3L LOC106660606 LOC652276 MIR1225 RNPS1 CCDC154 EME2 PIGQ NARFL MIR4516 GNPTG HBQ1 MRPS34 RNF151 TMEM204 MSRB1 MIR6511B1 MIR3176 MIR4717 RAB11FIP3 LOC105371049 CCDC78 PRR25 HN1L HBZ LOC100134368 SSTR5-AS1 MIR6859-4 HAGH NUBP2 ABCA3 PTX4 HBA1 MIR3178 TPSD1 LMF1-AS1 SNRNP25 FBXL16 MLST8 SNORD60 C16orf59 RHBDL1 MIR3180-5 TRAF7 FAM234A E4F1 SNORA78 CACNA1H PGP MIR5587 LMF1 TPSB2 UNKL METTL26 LOC105371038 DDX11L10 NME3 MEIOB BRICD5 AMDHD2 LINC00254 ZNF598 SPSB3 SNHG9 DNASE1L2 LOC729652 WDR90 TSC2 RHOT2 WDR24 LINC00235 TSR3 STUB1 NPRL3 MIR6768 JMJD8 MIR3177 NTHL1 LOC105371047 RPL23AP5 NOXO1 IFT140 PRSS29P MRPL28 SYNGR3 RAB26 LOC100287175 CASKIN1 AXIN1 RPS2 MIR940 TELO2 KCTD5 NTN3 HBA2 TBC1D24 LOC105371045 LUC7L TPSG1 LOC101929280 ERVK13-1 MIR3677 MIR662 METRN PDIA2 TMEM8A TPSAB1 FAHD1 NHLRC4 RHBDF1 NME4 WFIKKN1 C1QTNF8 FLJ42627 TBL3 ABCA17P GNG13 SNORA10 LOC107987233 ECI1 PRSS27 POLR3K SNORA64 WASIR2 LOC105371184 SSTR5 ARHGDIG CHTF18 LOC105371046 NPW FAM173A MAPK8IP3 GFER HS3ST6 RPUSD1 ATP6V0C LOC107984876 MPG C16orf91 HAGHL RAB40C SOX8 IGFALS CEMP1 UBE2I MIR6767 HBM CLCN7 CCNF SNHG19 SLC9A3R2 CRAMP1 PKD1 RGS11 MSLN PRR35
nsv571172	Chr.16:1764390 - 1817039 on Build GRCh38	Loss	SPSB3 MRPS34 EME2 NME3 IGFALS HAGH NUBP2 MAPK8IP3
nsv1160328	Chr.16:1704619 - 1797867 on Build GRCh38	Deletion	SPSB3 MRPS34 EME2 NME3 IGFALS MIR3177 NUBP2 MAPK8IP3
nsv571171	Chr.16:1757779 - 1804539 on Build GRCh38	Gain+Loss	SPSB3 MRPS34 EME2 NME3 IGFALS NUBP2 MAPK8IP3
dgv4856n54	Chr.16:1600945 - 1813519 on Build GRCh38	Loss	SPSB3 HN1L IFT140 EME2 IGFALS HAGH NUBP2 MRPS34 CRAMP1 LOC105371046 NME3 MIR3177 MAPK8IP3
nsv471069	Chr.16:1754356 - 1791032 on Build GRCh38	Loss	SPSB3 MRPS34 EME2 NME3 IGFALS NUBP2 MAPK8IP3
nsv1051692	Chr.16:1505070 - 1866102 on Build GRCh38	Loss	SPSB3 HN1L IFT140 EME2 IGFALS HAGH NUBP2 FAHD1 MRPS34 CRAMP1 TMEM204 TELO2 LOC105371046 NME3 MEIOB MIR3177 MAPK8IP3 LOC105371047
nsv827500	Chr.16:1761258 - 1795126 on Build GRCh38	Gain	SPSB3 MRPS34 EME2 NME3 IGFALS NUBP2 MAPK8IP3
nsv571173	Chr.16:1767596 - 1780436 on Build GRCh38	Loss	SPSB3 MRPS34 EME2 NME3 MAPK8IP3
nsv518641	Chr.16:1645775 - 1835631 on Build GRCh38	Loss	SPSB3 HN1L EME2 IGFALS HAGH NUBP2 FAHD1 MRPS34 CRAMP1 NME3 MEIOB MIR3177 MAPK8IP3
nsv457336	Chr.16:1752231 - 1791032 on Build GRCh38	Loss	SPSB3 MRPS34 EME2 NME3 IGFALS NUBP2 MAPK8IP3
nsv952900	Chr.16:1724500 - 1827999 on Build GRCh38	Deletion	SPSB3 MRPS34 EME2 NME3 IGFALS HAGH MIR3177 NUBP2 FAHD1 MAPK8IP3

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ribosomal protein, translational protein

Gene Ontology Categories:

Process(es)

mitochondrial translation
mitochondrial translational elongation
mitochondrial translational termination

Function(s)

structural constituent of ribosome