Hs01662360_cn

• Gene Symbol: MRPS34
• Assay Reference Genome Location: Chr.16:1772104 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: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MRPS34	NM_001300900.1	3	815	NP_001287829.1
	NM_023936.1	3	794	NP_076425.1
	XM_017023595.1	2	896	XP_016879084.1
	BC001182.1	3	794	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	MAPK8IP3 MRPS34 MIR3177 EME2 NUBP2 NME3 SPSB3
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	CRAMP1 TPSB2 MAPK8IP3 MIR662 FAM173A SNRNP25 NDUFB10 MSRB1 TSC2 PRSS29P PRR25 E4F1 PKD1 CAPN15 MIR3176 CCNF LOC105371047 MIR5587 SNORD60 LOC101929280 NTN3 CEMP1 AMDHD2 TBC1D24 MRPL28 LOC105371038 LOC107987233 MIR3180-5 LINC00235 TMEM204 HBM HBA1 GFER ABCA3 NME3 PRR35 RAB11FIP3 LOC105371046 RPL3L MIR3677 TPSG1 HBQ1 RAB40C METRN NME4 SNORA10 PIGQ SOX8 HN1L ZNF598 STUB1 HBA2 NTHL1 LOC107984876 WDR90 MRPS34 NOXO1 C16orf59 NHLRC4 MIR4717 SNHG9 TSR3 NUBP2 MIR6511B1 TRAF7 NARFL DNASE1L2 HAGHL SSTR5-AS1 RHOT2 PTX4 CHTF18 TMEM8A ARHGDIG NPRL3 ATP6V0C RPUSD1 METTL26 EME2 FAM234A FBXL16 TPSAB1 C1QTNF8 RHBDF1 RPS2 FLJ42627 RAB26 LOC105371049 LOC105371184 ERVK13-1 PDIA2 LOC652276 LINC00254 RNPS1 PGP AXIN1 HAGH LUC7L HS3ST6 POLR3K MIR6767 UNKL TBL3 PDPK1 CLCN7 WASIR2 CCDC154 HBZ LOC100287175 MEIOB SPSB3 CACNA1H SSTR5 WFIKKN1 SYNGR3 SNHG19 LOC105371045 LOC100134368 BRICD5 LOC106660606 MIR3178 RPL23AP5 ECI1 MIR940 SNORA78 MCRIP2 LMF1 RHBDL1 UBE2I MSLN KCTD5 LOC729652 LMF1-AS1 JMJD8 MLST8 SLC9A3R2 MIR3177 MIR1225 DDX11L10 GNPTG TELO2 ABCA17P DECR2 C16orf91 GNG13 CASKIN1 IGFALS RGS11 MPG PRSS27 SNORA64 MIR6859-4 NPW BAIAP3 MIR4516 FAHD1 WDR24 RNF151 CCDC78 TPSD1 MIR6768 IFT140
nsv571172	Chr.16:1764390 - 1817039 on Build GRCh38	Loss	IGFALS MAPK8IP3 MRPS34 HAGH EME2 NUBP2 NME3 SPSB3
nsv1160328	Chr.16:1704619 - 1797867 on Build GRCh38	Deletion	IGFALS MAPK8IP3 MRPS34 MIR3177 EME2 NUBP2 NME3 SPSB3
nsv571171	Chr.16:1757779 - 1804539 on Build GRCh38	Gain+Loss	IGFALS MAPK8IP3 MRPS34 EME2 NUBP2 NME3 SPSB3
dgv4856n54	Chr.16:1600945 - 1813519 on Build GRCh38	Loss	LOC105371046 CRAMP1 IGFALS MAPK8IP3 MRPS34 NUBP2 SPSB3 HN1L HAGH MIR3177 EME2 IFT140 NME3
nsv471069	Chr.16:1754356 - 1791032 on Build GRCh38	Loss	IGFALS MAPK8IP3 MRPS34 EME2 NUBP2 NME3 SPSB3
nsv1051692	Chr.16:1505070 - 1866102 on Build GRCh38	Loss	LOC105371046 CRAMP1 LOC105371047 IGFALS MAPK8IP3 MRPS34 NUBP2 MEIOB SPSB3 FAHD1 TMEM204 HN1L HAGH MIR3177 TELO2 EME2 IFT140 NME3
nsv827500	Chr.16:1761258 - 1795126 on Build GRCh38	Gain	IGFALS MAPK8IP3 MRPS34 EME2 NUBP2 NME3 SPSB3
nsv571173	Chr.16:1767596 - 1780436 on Build GRCh38	Loss	MAPK8IP3 MRPS34 EME2 NME3 SPSB3
nsv518641	Chr.16:1645775 - 1835631 on Build GRCh38	Loss	CRAMP1 IGFALS MAPK8IP3 MRPS34 NUBP2 MEIOB SPSB3 FAHD1 HN1L HAGH MIR3177 EME2 NME3
nsv457336	Chr.16:1752231 - 1791032 on Build GRCh38	Loss	IGFALS MAPK8IP3 MRPS34 EME2 NUBP2 NME3 SPSB3
nsv952900	Chr.16:1724500 - 1827999 on Build GRCh38	Deletion	IGFALS FAHD1 MAPK8IP3 MRPS34 HAGH MIR3177 EME2 NUBP2 NME3 SPSB3

More Information

• Set Membership: Intragenic, 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