SZGR2

Summary ?

GeneID	23468
Symbol	CBX5
Synonyms	HEL25\|HP1\|HP1A
Description	chromobox 5
Reference	MIM:604478\|HGNC:HGNC:1555\|Ensembl:ENSG00000094916\|HPRD:05131\|Vega:OTTHUMG00000169700
Gene type	protein-coding
Map location	12q13.13
Pascal p-value	0.289
Sherlock p-value	0.978
Fetal beta	0.729
eGene	Myers' cis & trans

Gene in Data Sources

Gene set name	Method of gene set	Description	Info
CV:PGCnp	Genome-wide Association Study	GWAS
DNM:Gulsuner_2013	Whole Exome Sequencing analysis	155 DNMs identified by exome sequencing of quads or trios of schizophrenia individuals and their parents.

Section I. Genetics and epigenetics annotation

DNM table

Gene	Chromosome	Position	Ref	Alt	Transcript	AA change	Mutation type	Sift	CG46	Trait	Study
CBX5	chr12	54651406	T	G	NM_001127321 NM_001127322 NM_012117	p.10D>A p.10D>A p.10D>A	missense missense missense			Schizophrenia	DNM:Gulsuner_2013

eQTL annotation

SNP ID	Chromosome	Position	eGene	Gene Entrez ID	qvalue	eQTL type
rs17014160	chr1	206855799	CBX5	23468	0.05	trans
rs841285	chr2	129330728	CBX5	23468	0.1	trans
rs1155107	chr3	26843376	CBX5	23468	0.16	trans
rs1395163	chr3	31028951	CBX5	23468	0.15	trans
rs17029291	chr3	32402138	CBX5	23468	0.01	trans
rs6446109	chr3	60076988	CBX5	23468	0.07	trans
rs1807299	chr3	134470799	CBX5	23468	0.02	trans
rs830202	chr3	165654796	CBX5	23468	0.14	trans
rs6813178	chr4	71575238	CBX5	23468	0.06	trans
rs6834662	chr4	71605100	CBX5	23468	0.14	trans
rs6843749	chr4	84847249	CBX5	23468	0.14	trans
rs2008349	chr4	142819748	CBX5	23468	0.15	trans
rs16870339	chr5	2705169	CBX5	23468	0.14	trans
rs750544	chr5	51749054	CBX5	23468	0.15	trans
rs17146240	chr5	119522933	CBX5	23468	0.03	trans
rs17146261	chr5	119534252	CBX5	23468	0.03	trans
rs2807510	chr6	73090536	CBX5	23468	0.07	trans
rs4617108	chr7	49423831	CBX5	23468	0.03	trans
rs3779536	chr7	127233976	CBX5	23468	0.01	trans
rs9937567	chr16	66364752	CBX5	23468	0.1	trans
rs16986203	chr20	24047322	CBX5	23468	0.08	trans
rs6098023	chr20	53113740	CBX5	23468	0	trans
rs6015314	chr20	57167224	CBX5	23468	0.07	trans
rs12157904	chr22	37982011	CBX5	23468	0.09	trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions

Section IV. Protein-protein interaction annotation

Interactors	Aliases B	Official full name B	Experimental	Source	PubMed ID
ARL5A	ARFLP5 \| ARL5	ADP-ribosylation factor-like 5A	-	HPRD,BioGRID	12414990
BCL11B	CTIP-2 \| CTIP2 \| RIT1 \| hRIT1-alpha	B-cell CLL/lymphoma 11B (zinc finger protein)	CTIP2 interacts with HP1-alpha.	BIND	12692243
CBX1	CBX \| HP1-BETA \| HP1Hs-beta \| HP1Hsbeta \| M31 \| MOD1 \| p25beta	chromobox homolog 1 (HP1 beta homolog Drosophila )	-	HPRD,BioGRID	11336697
CBX3	HECH \| HP1-GAMMA \| HP1Hs-gamma	chromobox homolog 3 (HP1 gamma homolog, Drosophila)	-	HPRD,BioGRID	11336697
CBX5	HP1 \| HP1A	chromobox homolog 5 (HP1 alpha homolog, Drosophila)	Affinity Capture-Western Reconstituted Complex	BioGRID	11336697
CHAF1A	CAF-1 \| CAF1 \| CAF1B \| CAF1P150 \| MGC71229 \| P150	chromatin assembly factor 1, subunit A (p150)	-	HPRD	10549285 \|10938122
CHAF1A	CAF-1 \| CAF1 \| CAF1B \| CAF1P150 \| MGC71229 \| P150	chromatin assembly factor 1, subunit A (p150)	Affinity Capture-Western Reconstituted Complex	BioGRID	10938122 \|12697822
CHAF1B	CAF-1 \| CAF-IP60 \| CAF1 \| CAF1A \| CAF1P60 \| MPHOSPH7 \| MPP7	chromatin assembly factor 1, subunit B (p60)	Two-hybrid	BioGRID	12697822
DNMT1	AIM \| CXXC9 \| DNMT \| FLJ16293 \| MCMT \| MGC104992	DNA (cytosine-5-)-methyltransferase 1	Affinity Capture-Western	BioGRID	12867029
DNMT3A	DNMT3A2 \| M.HsaIIIA	DNA (cytosine-5-)-methyltransferase 3 alpha	Affinity Capture-Western	BioGRID	12867029
DNMT3B	ICF \| M.HsaIIIB	DNA (cytosine-5-)-methyltransferase 3 beta	-	HPRD,BioGRID	12867029
DNMT3B	ICF \| M.HsaIIIB	DNA (cytosine-5-)-methyltransferase 3 beta	DNMT3B interacts with HP1-alpha. This interaction was modeled on a demonstrated interaction between mouse Dnmt3b1 and human HP1-alpha.	BIND	15120635
DSN1	C20orf172 \| FLJ13346 \| MGC32987 \| MIS13 \| dJ469A13.2	DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)	c20orf172 interacts with HP1-alpha.	BIND	15502821
DSN1	C20orf172 \| FLJ13346 \| MGC32987 \| MIS13 \| dJ469A13.2	DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)	-	HPRD,BioGRID	15502821
E2F1	E2F-1 \| RBAP1 \| RBBP3 \| RBP3	E2F transcription factor 1	E2F1 interacts with HP1-alpha chromatin.	BIND	11799066
E2F4	E2F-4	E2F transcription factor 4, p107/p130-binding	E2F4 interacts with the HP1-alpha chromatin.	BIND	11799066
HDAC1	DKFZp686H12203 \| GON-10 \| HD1 \| RPD3 \| RPD3L1	histone deacetylase 1	Affinity Capture-Western	BioGRID	12242305
HDAC4	HA6116 \| HD4 \| HDAC-A \| HDACA \| KIAA0288	histone deacetylase 4	-	HPRD,BioGRID	12242305
HDAC5	FLJ90614 \| HD5 \| NY-CO-9	histone deacetylase 5	-	HPRD,BioGRID	12242305
HDAC9	DKFZp779K1053 \| HD7 \| HDAC \| HDAC7 \| HDAC7B \| HDAC9B \| HDAC9FL \| HDRP \| KIAA0744 \| MITR	histone deacetylase 9	-	HPRD,BioGRID	12242305
HIST2H3A	H3/n \| H3/o	histone cluster 2, H3a	Reconstituted Complex	BioGRID	11336697
HIST3H2A	MGC3165	histone cluster 3, H2a	Reconstituted Complex	BioGRID	11336697
HIST3H2BB	-	histone cluster 3, H2bb	Reconstituted Complex	BioGRID	11336697
HIST4H4	H4/p \| MGC24116	histone cluster 4, H4	Reconstituted Complex	BioGRID	11336697
INCENP	FLJ31633 \| MGC111393	inner centromere protein antigens 135/155kDa	HP1 interacts with INCENP. This interaction was modelled on a demonstrated interaction between human HP1 and chicken INCENP.	BIND	11516652
INCENP	FLJ31633 \| MGC111393	inner centromere protein antigens 135/155kDa	-	HPRD	9864353
LBR	DHCR14B \| FLJ43126 \| LMN2R \| MGC9041 \| PHA	lamin B receptor	-	HPRD,BioGRID	8663349
MBD1	CXXC3 \| PCM1 \| RFT	methyl-CpG binding domain protein 1	-	HPRD,BioGRID	12711603
MIS12	2510025F08Rik \| KNTC2AP \| MGC2488 \| MTW1 \| hMis12	MIS12, MIND kinetochore complex component, homolog (yeast)	-	HPRD,BioGRID	15502821
MIS12	2510025F08Rik \| KNTC2AP \| MGC2488 \| MTW1 \| hMis12	MIS12, MIND kinetochore complex component, homolog (yeast)	Mis12 interacts with HP1-alpha.	BIND	15502821
MKI67	KIA \| Ki-67	antigen identified by monoclonal antibody Ki-67	-	HPRD	12485163
MKI67	KIA \| Ki-67	antigen identified by monoclonal antibody Ki-67	pKi-67 interacts with HP1-alpha protein via its C-terminus. This interaction was modeled on a demonstrated interaction between pKi-67 from human and HP1-alpha from mouse.	BIND	11793364
NSL1	C1orf48 \| DC8 \| DKFZp566O1646 \| MIS14	NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)	HP1-alpha interacts with DC8.	BIND	15502821
NSL1	C1orf48 \| DC8 \| DKFZp566O1646 \| MIS14	NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)	-	HPRD,BioGRID	15502821
PRR14	DKFZp781A13198 \| MGC3121	proline rich 14	Two-hybrid	BioGRID	16189514
RB1	OSRC \| RB \| p105-Rb \| pRb \| pp110	retinoblastoma 1	Affinity Capture-Western	BioGRID	11484059
RPSA	37LRP \| 67LR \| LAMBR \| LAMR1 \| LRP \| p40	ribosomal protein SA	-	HPRD,BioGRID	14730304
SMARCA4	BAF190 \| BRG1 \| FLJ39786 \| SNF2 \| SNF2-BETA \| SNF2L4 \| SNF2LB \| SWI2 \| hSNF2b	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	-	HPRD,BioGRID	12411497
SUV39H1	KMT1A \| MG44 \| SUV39H	suppressor of variegation 3-9 homolog 1 (Drosophila)	Affinity Capture-Western Two-hybrid	BioGRID	12242305 \|12711603 \|16189514
SUV39H1	KMT1A \| MG44 \| SUV39H	suppressor of variegation 3-9 homolog 1 (Drosophila)	-	HPRD	12565857 \|12711603
TAF4	FLJ41943 \| TAF2C \| TAF2C1 \| TAF4A \| TAFII130 \| TAFII135	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	-	HPRD,BioGRID	11959914
TBP	GTF2D \| GTF2D1 \| MGC117320 \| MGC126054 \| MGC126055 \| SCA17 \| TFIID	TATA box binding protein	Affinity Capture-Western	BioGRID	11959914
TCEB3B	ELOA2 \| HsT832 \| MGC119351 \| TCEB3L	transcription elongation factor B polypeptide 3B (elongin A2)	Two-hybrid	BioGRID	16189514
TRIM24	PTC6 \| RNF82 \| TF1A \| TIF1 \| TIF1A \| TIF1ALPHA \| hTIF1	tripartite motif-containing 24	-	HPRD,BioGRID	10562550
TRIM28	FLJ29029 \| KAP1 \| RNF96 \| TF1B \| TIF1B	tripartite motif-containing 28	Affinity Capture-Western in vitro in vivo Reconstituted Complex Two-hybrid	BioGRID	10562550 \|10938122 \|11336697 \|12154074 \|12411497
TRIM28	FLJ29029 \| KAP1 \| RNF96 \| TF1B \| TIF1B	tripartite motif-containing 28	-	HPRD	10562550 \|12154074
XRCC6	CTC75 \| CTCBF \| G22P1 \| KU70 \| ML8 \| TLAA	X-ray repair complementing defective repair in Chinese hamster cells 6	Ku70 interacts with HP1-alpha.	BIND	11112778
XRCC6	CTC75 \| CTCBF \| G22P1 \| KU70 \| ML8 \| TLAA	X-ray repair complementing defective repair in Chinese hamster cells 6	-	HPRD,BioGRID	11112778

Section V. Pathway annotation

Pathway name	Pathway size	# SZGR 2.0 genes in pathway	Info
PID AURORA B PATHWAY	39	24	All SZGR 2.0 genes in this pathway
PID E2F PATHWAY	74	48	All SZGR 2.0 genes in this pathway
REACTOME FACTORS INVOLVED IN MEGAKARYOCYTE DEVELOPMENT AND PLATELET PRODUCTION	132	101	All SZGR 2.0 genes in this pathway
REACTOME HEMOSTASIS	466	331	All SZGR 2.0 genes in this pathway
WATANABE COLON CANCER MSI VS MSS DN	81	42	All SZGR 2.0 genes in this pathway
SENESE HDAC1 TARGETS DN	260	143	All SZGR 2.0 genes in this pathway
JAATINEN HEMATOPOIETIC STEM CELL UP	316	190	All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA DN	1375	806	All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED UP	633	376	All SZGR 2.0 genes in this pathway
MARKEY RB1 ACUTE LOF DN	228	137	All SZGR 2.0 genes in this pathway
CONCANNON APOPTOSIS BY EPOXOMICIN DN	172	112	All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN	1781	1082	All SZGR 2.0 genes in this pathway
BERENJENO TRANSFORMED BY RHOA UP	536	340	All SZGR 2.0 genes in this pathway
MARTIN INTERACT WITH HDAC	44	31	All SZGR 2.0 genes in this pathway
HEIDENBLAD AMPLICON 12P11 12 DN	30	16	All SZGR 2.0 genes in this pathway
MARTORIATI MDM4 TARGETS FETAL LIVER DN	514	319	All SZGR 2.0 genes in this pathway
JAZAG TGFB1 SIGNALING VIA SMAD4 UP	108	66	All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK	1652	1023	All SZGR 2.0 genes in this pathway
WILLIAMS ESR2 TARGETS DN	11	6	All SZGR 2.0 genes in this pathway
LIAO METASTASIS	539	324	All SZGR 2.0 genes in this pathway
BENPORATH ES 1	379	235	All SZGR 2.0 genes in this pathway
BENPORATH NANOG TARGETS	988	594	All SZGR 2.0 genes in this pathway
BENPORATH SOX2 TARGETS	734	436	All SZGR 2.0 genes in this pathway
BENPORATH MYC MAX TARGETS	775	494	All SZGR 2.0 genes in this pathway
SHIN B CELL LYMPHOMA CLUSTER 3	28	23	All SZGR 2.0 genes in this pathway
PENG LEUCINE DEPRIVATION UP	142	93	All SZGR 2.0 genes in this pathway
SMITH TERT TARGETS UP	145	91	All SZGR 2.0 genes in this pathway
POMEROY MEDULLOBLASTOMA DESMOPLASIC VS CLASSIC UP	62	38	All SZGR 2.0 genes in this pathway
TARTE PLASMA CELL VS PLASMABLAST DN	309	206	All SZGR 2.0 genes in this pathway
POMEROY MEDULLOBLASTOMA PROGNOSIS DN	43	28	All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL QTL TRANS	882	572	All SZGR 2.0 genes in this pathway
REN BOUND BY E2F	61	40	All SZGR 2.0 genes in this pathway
PENG RAPAMYCIN RESPONSE UP	203	130	All SZGR 2.0 genes in this pathway
PARK HSC MARKERS	44	31	All SZGR 2.0 genes in this pathway
LI WILMS TUMOR VS FETAL KIDNEY 1 DN	163	115	All SZGR 2.0 genes in this pathway
LU AGING BRAIN DN	153	120	All SZGR 2.0 genes in this pathway
CUI TCF21 TARGETS 2 UP	428	266	All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR UP	953	554	All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR DN	911	527	All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR UP	783	442	All SZGR 2.0 genes in this pathway
HOWLIN CITED1 TARGETS 1 UP	35	25	All SZGR 2.0 genes in this pathway
MASSARWEH TAMOXIFEN RESISTANCE DN	258	160	All SZGR 2.0 genes in this pathway
MCCABE BOUND BY HOXC6	469	239	All SZGR 2.0 genes in this pathway
MITSIADES RESPONSE TO APLIDIN DN	249	165	All SZGR 2.0 genes in this pathway
GRADE COLON CANCER UP	871	505	All SZGR 2.0 genes in this pathway
HUANG DASATINIB RESISTANCE DN	69	44	All SZGR 2.0 genes in this pathway
WANG TUMOR INVASIVENESS UP	374	247	All SZGR 2.0 genes in this pathway
GOLDRATH ANTIGEN RESPONSE	346	192	All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP	1305	895	All SZGR 2.0 genes in this pathway
AGUIRRE PANCREATIC CANCER COPY NUMBER DN	238	145	All SZGR 2.0 genes in this pathway
HOFFMANN LARGE TO SMALL PRE BII LYMPHOCYTE UP	163	102	All SZGR 2.0 genes in this pathway
SHEDDEN LUNG CANCER POOR SURVIVAL A6	456	285	All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 36HR UP	221	150	All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 60HR DN	277	166	All SZGR 2.0 genes in this pathway
CAIRO HEPATOBLASTOMA UP	207	143	All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC	1103	714	All SZGR 2.0 genes in this pathway
CHANDRAN METASTASIS UP	221	135	All SZGR 2.0 genes in this pathway
WHITFIELD CELL CYCLE G2	182	102	All SZGR 2.0 genes in this pathway
CHICAS RB1 TARGETS SENESCENT	572	352	All SZGR 2.0 genes in this pathway
CHICAS RB1 TARGETS GROWING	243	155	All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 24HR UP	324	193	All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 2 DN	336	211	All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 DN	918	550	All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS DN	553	343	All SZGR 2.0 genes in this pathway
FORTSCHEGGER PHF8 TARGETS UP	279	155	All SZGR 2.0 genes in this pathway
RAO BOUND BY SALL4 ISOFORM B	517	302	All SZGR 2.0 genes in this pathway

Gene Page: CBX5