Hs01130888_cn

• Gene Symbol: JMJD8
• Assay Reference Genome Location: Chr.16:681805 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	1904	NP_001005920.2
	NM_001323918.1	9	1906	NP_001310847.1
	NM_001323919.1	8	1776	NP_001310848.1
	NM_001323920.1	8	1821	NP_001310849.1
	NM_001323922.1	8	1816	NP_001310851.1
	NR_136650.1	8	1994
	NR_136651.1	8	1999
	NR_136652.1	7	1909
	AF370420.1	9	1788	AAQ15256.1
	AI022970.1	1	171
	AI370749.1	1	145
	BC073785.1	8	1876	AAH73785.1
	BC094850.1	6	1522	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 3 - Exon 4

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

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