Hs02345811_cn

• Gene Symbol: JMJD8
• Assay Reference Genome Location: Chr.16:682773 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 339123
• Gene Name: jumonji domain containing 8
• Gene Aliases: C16orf20, PP14397
• Location: Chr.16:681666-684446 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
JMJD8	NM_001005920.2	9	936	NP_001005920.2
	NM_001323918.1	9	938	NP_001310847.1
	NM_001323919.1	8	808	NP_001310848.1
	NM_001323920.1	8	853	NP_001310849.1
	NM_001323922.1	8	848	NP_001310851.1
	NR_136650.1	8	1026
	NR_136651.1	8	1031
	NR_136652.1	7	941
	AF370420.1	9	820	AAQ15256.1
	AL524336.3	8	911
	AL524922.3	8	918
	BC073785.1	8	908	AAH73785.1
	BC094850.1	6	554	AAH94850.1
	BC137100.1	9	902
	BC137101.1	9	902
	BG284477.1	4	393
	BG423721.1	5	448
	BG826580.1
	BI767435.1	8	756
	BX335015.2	9	817
	DQ074695.1			AAY82251.1

Target Gene Details

• Entrez Gene ID: 10273
• Gene Name: STIP1 homology and U-box containing protein 1
• Gene Aliases: CHIP, HSPABP2, NY-CO-7, SCAR16, SDCCAG7, UBOX1
• Location: Chr.16:680111-682768 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
STUB1	NM_001293197.1			NP_001280126.1
	NM_005861.3			NP_005852.2
	AF039689.1			AAC18038.1
	AF129085.1			AAD33400.1
	AF217968.1			AAG17211.1
	AF432221.1			AAL99927.1
	BC007545.1			AAH07545.1
	BC017178.1			AAH17178.1
	BC022788.1			AAH22788.1
	BC063617.1			AAH63617.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv827480	Chr.16:672775 - 685288 on Build GRCh38	Gain	WDR24 RHOT2 RHBDL1 STUB1 LOC105371184 JMJD8
nsv482182	Chr.16:681667 - 684439 on Build GRCh38	Gain	STUB1 JMJD8
nsv482181	Chr.16:680115 - 682767 on Build GRCh38	Gain	STUB1 JMJD8
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	SSTR5 RGS11 NHLRC4 MIR6511B1 WFIKKN1 NUBP2 DDX11L10 RNPS1 LOC100134368 SSTR5-AS1 RHBDL1 STUB1 MIR6859-4 WASIR2 METRN MEIOB POLR3K CAPN15 RPS2 LMF1 CEMP1 SNHG9 RHBDF1 LOC105371045 LOC101929280 CRAMP1 KCTD5 MIR1225 RAB40C ABCA3 TRAF7 PGP C1QTNF8 MSRB1 LOC105371047 RHOT2 ABCA17P RAB11FIP3 LINC00254 MIR3677 CASKIN1 HBM UBE2I MRPL28 SNORA10 MIR940 SPSB3 TPSD1 TPSAB1 SNORD60 SLC9A3R2 FBXL16 LOC105371184 CCDC78 PTX4 DECR2 TMEM204 JMJD8 ZNF598 SYNGR3 PIGQ PDIA2 MLST8 MIR3177 MIR4516 RNF151 MSLN LOC107984876 METTL26 NME3 TPSB2 PRSS27 NARFL CHTF18 TBL3 GNPTG NTN3 CLCN7 MRPS34 SNHG19 CCDC154 PKD1 LINC00235 FLJ42627 LOC100287175 LOC105371038 FAHD1 SNORA64 HN1L BAIAP3 C16orf91 MIR5587 SNORA78 NTHL1 DNASE1L2 PRR35 NPRL3 TMEM8A LOC105371049 NOXO1 LOC652276 FAM234A MIR6767 MPG SOX8 ARHGDIG LOC105371046 MCRIP2 WDR24 HBA1 MIR662 RPUSD1 ATP6V0C RPL23AP5 NDUFB10 HBA2 MIR3176 MIR3180-5 EME2 TSR3 TPSG1 NPW NME4 MAPK8IP3 HBZ AMDHD2 C16orf59 TELO2 ECI1 IGFALS CCNF MIR4717 BRICD5 LUC7L LOC106660606 FAM173A GNG13 CACNA1H HBQ1 MIR3178 HS3ST6 SNRNP25 LOC729652 GFER RAB26 PDPK1 UNKL TSC2 LOC107987233 AXIN1 ERVK13-1 TBC1D24 RPL3L IFT140 E4F1 PRSS29P HAGHL MIR6768 PRR25 LMF1-AS1 WDR90 HAGH
nsv471063	Chr.16:520623 - 852322 on Build GRCh38	Loss	NHLRC4 WFIKKN1 LINC00235 LOC100287175 LOC105371038 RHBDL1 STUB1 METRN CAPN15 FBXL16 FAM173A LOC105371184 CCDC78 GNG13 JMJD8 MIR5587 PIGQ PRR35 LOC101929280 RAB40C MSLN MCRIP2 METTL26 LOC107987233 WDR24 MIR662 RPUSD1 RHOT2 MIR3176 RAB11FIP3 HAGHL PRR25 NARFL CHTF18 WDR90
nsv457311	Chr.16:681725 - 761746 on Build GRCh38	Loss	WDR24 STUB1 METRN FBXL16 FAM173A CCDC78 HAGHL NARFL JMJD8 MSLN
nsv526903	Chr.16:451362 - 810673 on Build GRCh38	Loss	NHLRC4 WFIKKN1 LINC00235 LOC100287175 LOC105371038 RHBDL1 STUB1 METRN CAPN15 FBXL16 FAM173A LOC105371184 CCDC78 GNG13 JMJD8 MIR5587 PIGQ PRR35 LOC101929280 RAB40C MSLN MCRIP2 METTL26 LOC107987233 WDR24 MIR662 RPUSD1 RHOT2 MIR3176 RAB11FIP3 HAGHL PRR25 NARFL CHTF18 WDR90
nsv952898	Chr.16:495001 - 1132900 on Build GRCh38	Deletion	SSTR5 NHLRC4 WFIKKN1 LINC00235 LOC100287175 LOC105371038 SSTR5-AS1 RHBDL1 STUB1 METRN CAPN15 FBXL16 FAM173A LOC105371184 CCDC78 GNG13 LMF1 JMJD8 MIR5587 PIGQ PRR35 LOC101929280 SOX8 RAB40C MSLN LOC107984876 MCRIP2 METTL26 C1QTNF8 LOC107987233 WDR24 MIR662 RPUSD1 RHOT2 MIR3176 RAB11FIP3 HAGHL PRR25 NARFL CHTF18 LMF1-AS1 WDR90
nsv571012	Chr.16:583354 - 748489 on Build GRCh38	Loss	PIGQ WFIKKN1 LOC101929280 RAB40C LOC100287175 MCRIP2 METTL26 LOC105371038 WDR24 RHOT2 RHBDL1 STUB1 METRN FBXL16 FAM173A LOC105371184 CCDC78 HAGHL NARFL JMJD8 WDR90
nsv1160326	Chr.16:580902 - 804689 on Build GRCh38	Duplication	WFIKKN1 LOC100287175 LOC105371038 RHBDL1 STUB1 METRN FBXL16 FAM173A LOC105371184 CCDC78 GNG13 JMJD8 PIGQ LOC101929280 RAB40C MSLN MCRIP2 METTL26 WDR24 MIR662 RPUSD1 RHOT2 HAGHL NARFL CHTF18 WDR90
nsv1160325	Chr.16:506925 - 836376 on Build GRCh38	Duplication	NHLRC4 WFIKKN1 LINC00235 LOC100287175 LOC105371038 RHBDL1 STUB1 METRN CAPN15 FBXL16 FAM173A LOC105371184 CCDC78 GNG13 JMJD8 MIR5587 PIGQ PRR35 LOC101929280 RAB40C MSLN MCRIP2 METTL26 LOC107987233 WDR24 MIR662 RPUSD1 RHOT2 MIR3176 RAB11FIP3 HAGHL PRR25 NARFL CHTF18 WDR90
nsv516590	Chr.16:605686 - 748489 on Build GRCh38	Loss	WFIKKN1 RAB40C LOC100287175 MCRIP2 METTL26 LOC105371038 WDR24 RHOT2 RHBDL1 STUB1 METRN FBXL16 FAM173A LOC105371184 CCDC78 HAGHL NARFL JMJD8 WDR90
nsv471065	Chr.16:629411 - 739761 on Build GRCh38	Gain	WFIKKN1 LOC100287175 MCRIP2 METTL26 LOC105371038 WDR24 RHOT2 RHBDL1 STUB1 METRN FBXL16 FAM173A LOC105371184 CCDC78 HAGHL NARFL JMJD8 WDR90
dgv4825n54	Chr.16:661905 - 761746 on Build GRCh38	Loss	MSLN WDR24 RHOT2 RHBDL1 STUB1 METRN FBXL16 FAM173A LOC105371184 CCDC78 HAGHL NARFL JMJD8 WDR90
nsv9321	Chr.16:638149 - 804328 on Build GRCh38	Gain+Loss	MSLN LOC100287175 MCRIP2 LOC105371038 WDR24 MIR662 RPUSD1 RHOT2 RHBDL1 STUB1 METRN FBXL16 FAM173A LOC105371184 CCDC78 HAGHL NARFL GNG13 CHTF18 JMJD8 WDR90

More Information

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

Panther Classification:

Molecular Function -

protein modifying enzyme, ubiquitin-protein ligase

Gene Ontology Categories:

Process(es)

protein polyubiquitination
DNA repair
ubiquitin-dependent protein catabolic process
misfolded or incompletely synthesized protein catabolic process
protein ubiquitination
negative regulation of transforming growth factor beta receptor signaling pathway
ubiquitin-dependent SMAD protein catabolic process
endoplasmic reticulum unfolded protein response
positive regulation of protein ubiquitination
regulation of protein stability
regulation of glucocorticoid metabolic process
negative regulation of protein binding
positive regulation of proteasomal ubiquitin-dependent protein catabolic process
ERAD pathway
ERBB2 signaling pathway
protein ubiquitination involved in ubiquitin-dependent protein catabolic process
proteasome-mediated ubiquitin-dependent protein catabolic process
positive regulation of ubiquitin-protein transferase activity
protein maturation
protein autoubiquitination
protein K63-linked ubiquitination
cellular response to misfolded protein
positive regulation of chaperone-mediated protein complex assembly

Function(s)

G-protein coupled receptor binding
ubiquitin-protein transferase activity
protein binding
ligase activity
enzyme binding
kinase binding
Hsp70 protein binding
protein binding, bridging
TPR domain binding
ubiquitin protein ligase binding
ubiquitin-ubiquitin ligase activity
protein homodimerization activity
SMAD binding
misfolded protein binding
Hsp90 protein binding
ubiquitin protein ligase activity
ubiquitin protein ligase activity involved in ERAD pathway