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
nsv457335	Chr.16:1729694 - 1789022 on Build GRCh38	Loss	MAPK8IP3 EME2 MIR3177 SPSB3 MRPS34 NUBP2 NME3
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	RHBDF1 LOC729652 LMF1-AS1 TPSB2 SNHG19 TPSG1 C16orf59 AMDHD2 FBXL16 FAM173A TSR3 NHLRC4 MIR940 NARFL HBQ1 MIR3677 PRSS27 TMEM8A MIR4717 FLJ42627 ABCA17P PTX4 ERVK13-1 E4F1 CACNA1H RHOT2 MIR4516 FAHD1 SNORA78 LOC105371184 WFIKKN1 JMJD8 NUBP2 HBM MIR1225 MLST8 RHBDL1 RPS2 EME2 C1QTNF8 RAB26 LOC106660606 SLC9A3R2 MPG CRAMP1 TPSAB1 NTHL1 METRN MIR3180-5 UBE2I MSRB1 LOC101929280 MSLN CLCN7 NME3 SNHG9 SNRNP25 CHTF18 LOC105371047 LOC107987233 ARHGDIG C16orf91 FAM234A HN1L SNORA64 NTN3 GNG13 CASKIN1 SNORD60 SSTR5 RGS11 MIR6767 LUC7L MIR662 LINC00235 ABCA3 SPSB3 GFER LOC105371049 STUB1 RNF151 LMF1 RAB40C TSC2 MIR5587 PGP WDR90 GNPTG WDR24 ZNF598 NOXO1 KCTD5 TBL3 CCDC154 BRICD5 CEMP1 PKD1 TELO2 WASIR2 LOC105371038 LOC105371046 RPL3L CAPN15 TMEM204 HAGHL PIGQ LOC105371045 BAIAP3 UNKL TPSD1 TBC1D24 MIR3177 ECI1 DNASE1L2 IFT140 MIR3178 PRR35 NPRL3 RAB11FIP3 IGFALS MIR6859-4 METTL26 MRPL28 MEIOB ATP6V0C PRR25 RPL23AP5 LOC652276 MIR3176 AXIN1 DECR2 HBA1 NDUFB10 MRPS34 TRAF7 SOX8 LOC107984876 HAGH MAPK8IP3 PDPK1 SSTR5-AS1 SNORA10 HBA2 DDX11L10 RPUSD1 PRSS29P CCNF SYNGR3 MCRIP2 MIR6511B1 RNPS1 HBZ POLR3K LOC100287175 HS3ST6 NME4 PDIA2 CCDC78 MIR6768 NPW LINC00254 LOC100134368
esv3892756	Chr.16:1764390 - 1780436 on Build GRCh38	Loss	MAPK8IP3 EME2 SPSB3 MRPS34 NME3
nsv1160328	Chr.16:1704619 - 1797867 on Build GRCh38	Deletion	MAPK8IP3 EME2 MIR3177 SPSB3 MRPS34 NUBP2 IGFALS NME3
nsv571171	Chr.16:1757779 - 1804539 on Build GRCh38	Gain+Loss	MAPK8IP3 EME2 SPSB3 MRPS34 NUBP2 IGFALS NME3
dgv4856n54	Chr.16:1600945 - 1813519 on Build GRCh38	Loss	MAPK8IP3 EME2 MIR3177 IFT140 SPSB3 IGFALS CRAMP1 LOC105371046 HN1L MRPS34 NUBP2 NME3 HAGH
nsv471069	Chr.16:1754356 - 1791032 on Build GRCh38	Loss	MAPK8IP3 EME2 SPSB3 MRPS34 NUBP2 IGFALS NME3
nsv1051692	Chr.16:1505070 - 1866102 on Build GRCh38	Loss	MAPK8IP3 EME2 MIR3177 TELO2 IFT140 SPSB3 LOC105371047 IGFALS CRAMP1 LOC105371046 MEIOB FAHD1 TMEM204 HN1L MRPS34 NUBP2 NME3 HAGH
nsv827500	Chr.16:1761258 - 1795126 on Build GRCh38	Gain	MAPK8IP3 EME2 SPSB3 MRPS34 NUBP2 IGFALS NME3
nsv518641	Chr.16:1645775 - 1835631 on Build GRCh38	Loss	MAPK8IP3 EME2 MIR3177 SPSB3 IGFALS CRAMP1 MEIOB FAHD1 HN1L MRPS34 NUBP2 NME3 HAGH
nsv571173	Chr.16:1767596 - 1780436 on Build GRCh38	Loss	MAPK8IP3 EME2 SPSB3 MRPS34 NME3
nsv952900	Chr.16:1724500 - 1827999 on Build GRCh38	Deletion	MAPK8IP3 FAHD1 EME2 MIR3177 SPSB3 MRPS34 NUBP2 IGFALS NME3 HAGH
nsv571170	Chr.16:1752231 - 1791032 on Build GRCh38	Loss	MAPK8IP3 EME2 SPSB3 MRPS34 NUBP2 IGFALS NME3

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