Hs02770861_cn

• Gene Symbol: JMJD8
• Assay Reference Genome Location: Chr.16:682194 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	1515	NP_001005920.2
	NM_001323918.1	9	1517	NP_001310847.1
	NM_001323919.1	8	1387	NP_001310848.1
	NM_001323920.1	8	1432	NP_001310849.1
	NM_001323922.1	8	1427	NP_001310851.1
	NR_136650.1	8	1605
	NR_136651.1	8	1610
	NR_136652.1	7	1520
	AF370420.1	9	1399	AAQ15256.1
	BC073785.1	8	1487	AAH73785.1
	BC094850.1	6	1133	AAH94850.1

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 Intron 5 - Exon 6

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