SZGR2

Summary ?

GeneID	5929
Symbol	RBBP5
Synonyms	RBQ3\|SWD1
Description	retinoblastoma binding protein 5
Reference	MIM:600697\|HGNC:HGNC:9888\|Ensembl:ENSG00000117222\|HPRD:02826\|Vega:OTTHUMG00000037104
Gene type	protein-coding
Map location	1q32
Sherlock p-value	0.093
TADA p-value	0.01
Fetal beta	-0.021
eGene	Nucleus accumbens basal ganglia Myers' cis & trans
Support	Chromatin Remodeling Genes

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
RBBP5	chr1	205068937	G	A	NM_001193272 NM_001193272 NM_001193273 NM_001193273 NM_005057 NM_005057	. p.304H>Y . p.177H>Y . p.304H>Y	splice missense splice missense splice missense			Schizophrenia	DNM:Gulsuner_2013

eQTL annotation

SNP ID	Chromosome	Position	eGene	Gene Entrez ID	pvalue	qvalue	TSS distance	eQTL type
rs2289256	chr4	187089132	RBBP5	5929		0.02		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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
Gene	Pearson's Correlation	Spearman's Correlation
PRRG3	0.74	0.81
L3MBTL2	0.74	0.79
GGA3	0.74	0.80
AP3B2	0.73	0.80
AP2A2	0.73	0.79
KCTD21	0.72	0.77
USP11	0.72	0.79
MAP3K12	0.72	0.80
PISD	0.72	0.77
ZFYVE27	0.72	0.79

Top 10 negatively co-expressed genes
Gene	Pearson's Correlation	Spearman's Correlation
MT-CO2	-0.57	-0.62
AF347015.31	-0.56	-0.61
AF347015.21	-0.55	-0.64
HIGD1B	-0.55	-0.62
AC098691.2	-0.54	-0.66
GNG11	-0.53	-0.64
AF347015.33	-0.53	-0.57
AC021016.1	-0.53	-0.59
AF347015.8	-0.53	-0.60
AF347015.2	-0.53	-0.57

Section IV. Protein-protein interaction annotation

Interactors	Aliases B	Official full name B	Experimental	Source	PubMed ID
ASCL2	ASH2 \| HASH2 \| MASH2 \| bHLHa45	achaete-scute complex homolog 2 (Drosophila)	Affinity Capture-Western Co-purification	BioGRID	12482968
ASH2L	ASH2 \| ASH2L1 \| ASH2L2 \| Bre2	ash2 (absent, small, or homeotic)-like (Drosophila)	Reconstituted Complex	BioGRID	15199122
HCFC1	CFF \| HCF-1 \| HCF1 \| HFC1 \| MGC70925 \| VCAF	host cell factor C1 (VP16-accessory protein)	Co-purification	BioGRID	15199122
HCFC2	FLJ94012 \| HCF-2 \| HCF2	host cell factor C2	Co-purification	BioGRID	15199122
HIST2H3C	H3 \| H3.2 \| H3/M \| H3F2 \| H3FM \| MGC9629	histone cluster 2, H3c	Reconstituted Complex	BioGRID	12482968
MEN1	MEAI \| SCG2	multiple endocrine neoplasia I	Co-purification	BioGRID	15199122
MLL	ALL-1 \| CXXC7 \| FLJ11783 \| HRX \| HTRX1 \| KMT2A \| MLL/GAS7 \| MLL1A \| TET1-MLL \| TRX1	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)	RbBP5 interacts with MLL.	BIND	15960975
MLL	ALL-1 \| CXXC7 \| FLJ11783 \| HRX \| HTRX1 \| KMT2A \| MLL/GAS7 \| MLL1A \| TET1-MLL \| TRX1	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)	Affinity Capture-Western Co-purification	BioGRID	15199122
MLL3	DKFZp686C08112 \| FLJ12625 \| FLJ38309 \| HALR \| KIAA1506 \| KMT2C \| MGC119851 \| MGC119852 \| MGC119853	myeloid/lymphoid or mixed-lineage leukemia 3	Affinity Capture-Western Co-purification	BioGRID	12482968
NCOA6	AIB3 \| ANTP \| ASC2 \| HOX1.1 \| HOXA7 \| KIAA0181 \| NRC \| PRIP \| RAP250 \| TRBP	nuclear receptor coactivator 6	Affinity Capture-MS Affinity Capture-Western Co-purification	BioGRID	12482968
RB1	OSRC \| RB \| p105-Rb \| pRb \| pp110	retinoblastoma 1	-	HPRD,BioGRID	7558034
TUBA4A	FLJ30169 \| H2-ALPHA \| TUBA1	tubulin, alpha 4a	Co-purification	BioGRID	12482968
TUBB	M40 \| MGC117247 \| MGC16435 \| OK/SW-cl.56 \| TUBB1 \| TUBB5	tubulin, beta	Co-purification	BioGRID	12482968
WDR5	BIG-3 \| SWD3	WD repeat domain 5	Co-purification	BioGRID	15199122

Section V. Pathway annotation

Pathway name	Pathway size	# SZGR 2.0 genes in pathway	Info
KINSEY TARGETS OF EWSR1 FLII FUSION UP	1278	748	All SZGR 2.0 genes in this pathway
BARIS THYROID CANCER UP	23	9	All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK	1652	1023	All SZGR 2.0 genes in this pathway
PUJANA BRCA2 PCC NETWORK	423	265	All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS DN	1024	594	All SZGR 2.0 genes in this pathway
WEI MIR34A TARGETS	148	97	All SZGR 2.0 genes in this pathway
HOFMANN CELL LYMPHOMA UP	50	35	All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE INCIPIENT UP	390	242	All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 8HR UP	105	73	All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP	1691	1088	All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER UP	973	570	All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP	863	514	All SZGR 2.0 genes in this pathway
ZHANG BREAST CANCER PROGENITORS UP	425	253	All SZGR 2.0 genes in this pathway
BOCHKIS FOXA2 TARGETS	425	261	All SZGR 2.0 genes in this pathway
CLIMENT BREAST CANCER COPY NUMBER UP	23	20	All SZGR 2.0 genes in this pathway
TAYLOR METHYLATED IN ACUTE LYMPHOBLASTIC LEUKEMIA	77	52	All SZGR 2.0 genes in this pathway
CHANDRAN METASTASIS UP	221	135	All SZGR 2.0 genes in this pathway

Gene Page: RBBP5