Hs01272765_cn

• Gene Symbol: JMJD8
• Assay Reference Genome Location: Chr.16:682030 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	1679	NP_001005920.2
	NM_001323918.1	9	1681	NP_001310847.1
	NM_001323919.1	8	1551	NP_001310848.1
	NM_001323920.1	8	1596	NP_001310849.1
	NM_001323922.1	8	1591	NP_001310851.1
	NR_136650.1	8	1769
	NR_136651.1	8	1774
	NR_136652.1	7	1684
	AF370420.1	9	1563	AAQ15256.1
	AI370749.1
	BC073785.1	8	1651	AAH73785.1
	BC094850.1	6	1297	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 4 - Intron 5

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

More Information

• Set Membership: Intragenic, Exonic, Intronic, 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