SZGR2

Summary ?

GeneID	3091
Symbol	HIF1A
Synonyms	HIF-1-alpha\|HIF-1A\|HIF-1alpha\|HIF1\|HIF1-ALPHA\|MOP1\|PASD8\|bHLHe78
Description	hypoxia inducible factor 1 alpha subunit
Reference	MIM:603348\|HGNC:HGNC:4910\|Ensembl:ENSG00000100644\|HPRD:04517\|Vega:OTTHUMG00000140344
Gene type	protein-coding
Map location	14q23.2
Pascal p-value	0.29
Sherlock p-value	0.907
TADA p-value	0.013
Fetal beta	1.164
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.
PMID:cooccur	High-throughput literature-search	Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
Literature	High-throughput literature-search	Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenias	Click to show details

Section I. Genetics and epigenetics annotation

DNM table

Gene	Chromosome	Position	Ref	Alt	Transcript	AA change	Mutation type	Sift	CG46	Trait	Study
HIF1A	chr14	62203734	C	G	NM_001243084 NM_001530 NM_181054	p.410L>V p.386L>V p.386L>V	missense missense missense			Schizophrenia	DNM:Gulsuner_2013

eQTL annotation

SNP ID	Chromosome	Position	eGene	Gene Entrez ID	pvalue	qvalue	TSS distance	eQTL type
rs17139868	chr7	117079228	HIF1A	3091		0.13		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
HLA-DRA	0.86	0.84
HLA-DMA	0.81	0.84
HLA-DPA1	0.80	0.81
CD74	0.78	0.81
TBXAS1	0.77	0.77
CTSS	0.74	0.69
HLA-DRB1	0.74	0.77
CD86	0.73	0.64
RGS10	0.73	0.71
HLA-DQA1	0.73	0.71

Top 10 negatively co-expressed genes
Gene	Pearson's Correlation	Spearman's Correlation
SH3BP2	-0.46	-0.62
KIAA1949	-0.44	-0.52
SH2B2	-0.44	-0.63
TUBB2B	-0.42	-0.58
NASP	-0.42	-0.52
VAV2	-0.42	-0.48
ZNF311	-0.41	-0.45
ZBTB12	-0.41	-0.46
AL033532.1	-0.41	-0.48
ZNF300	-0.41	-0.44

Section IV. Protein-protein interaction annotation

Interactors	Aliases B	Official full name B	Experimental	Source	PubMed ID
APEX1	APE \| APE-1 \| APE1 \| APEN \| APEX \| APX \| HAP1 \| REF-1 \| REF1	APEX nuclease (multifunctional DNA repair enzyme) 1	-	HPRD,BioGRID	10594042
ARNT	HIF-1beta \| HIF1B \| HIF1BETA \| TANGO \| bHLHe2	aryl hydrocarbon receptor nuclear translocator	-	HPRD,BioGRID	9079689
ARNT	HIF-1beta \| HIF1B \| HIF1BETA \| TANGO \| bHLHe2	aryl hydrocarbon receptor nuclear translocator	HIF-1alpha interacts with HIF-1beta	BIND	8663540
ARNT	HIF-1beta \| HIF1B \| HIF1BETA \| TANGO \| bHLHe2	aryl hydrocarbon receptor nuclear translocator	HIF-1alpha isoform 1 interacts with HIF-1beta isoform 3	BIND	8663540
ARNT	HIF-1beta \| HIF1B \| HIF1BETA \| TANGO \| bHLHe2	aryl hydrocarbon receptor nuclear translocator	Arnt interacts with HIF1-alpha.	BIND	9704006
ARNT	HIF-1beta \| HIF1B \| HIF1BETA \| TANGO \| bHLHe2	aryl hydrocarbon receptor nuclear translocator	HIF-1alpha isoform 2 interacts with HIF-1beta isoform 1	BIND	8663540
ARNT	HIF-1beta \| HIF1B \| HIF1BETA \| TANGO \| bHLHe2	aryl hydrocarbon receptor nuclear translocator	HIF-1alpha isoform 2 interacts with HIF-1beta isoform 3	BIND	8663540
ARNTL	BMAL1 \| BMAL1c \| JAP3 \| MGC47515 \| MOP3 \| PASD3 \| TIC \| bHLHe5	aryl hydrocarbon receptor nuclear translocator-like	-	HPRD,BioGRID	9576906
CDKN1A	CAP20 \| CDKN1 \| CIP1 \| MDA-6 \| P21 \| SDI1 \| WAF1 \| p21CIP1	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	HIF-1alpha interacts with CDKN1A promoter.	BIND	15780936
CDKN2A	ARF \| CDK4I \| CDKN2 \| CMM2 \| INK4 \| INK4a \| MLM \| MTS1 \| TP16 \| p14 \| p14ARF \| p16 \| p16INK4 \| p16INK4a \| p19	cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	p14ARF interacts with HIF-1alpha.	BIND	11382768
COPS5	CSN5 \| JAB1 \| MGC3149 \| MOV-34 \| SGN5	COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)	Jab1 interacts with HIF-1alpha.	BIND	11707426
CREBBP	CBP \| KAT3A \| RSTS	CREB binding protein	-	HPRD,BioGRID	10202154
DAP3	DAP-3 \| DKFZp686G12159 \| MGC126058 \| MGC126059 \| MRP-S29 \| MRPS29 \| bMRP-10	death associated protein 3	-	HPRD,BioGRID	10903152
EGLN1	C1orf12 \| DKFZp761F179 \| ECYT3 \| HIFPH2 \| HPH2 \| PHD2 \| SM-20 \| SM20 \| ZMYND6	egl nine homolog 1 (C. elegans)	HIF-1 alpha interacts with PHD2.	BIND	15721254
EGLN3	FLJ21620 \| HIFPH3 \| MGC125998 \| MGC125999 \| PHD3	egl nine homolog 3 (C. elegans)	HIF-1 alpha interacts with PHD3.	BIND	15721254
EP300	KAT3B \| p300	E1A binding protein p300	-	HPRD,BioGRID	11823643
EPO	EP \| MGC138142	erythropoietin	HIF1A (HIF-1-alpha) interacts with the EPO gene 3(prime) enhancer.	BIND	15674338
HDAC1	DKFZp686H12203 \| GON-10 \| HD1 \| RPD3 \| RPD3L1	histone deacetylase 1	Reconstituted Complex	BioGRID	11641274
HDAC2	RPD3 \| YAF1	histone deacetylase 2	Reconstituted Complex	BioGRID	11641274
HDAC3	HD3 \| RPD3 \| RPD3-2	histone deacetylase 3	Reconstituted Complex	BioGRID	11641274
HIF1AN	DKFZp762F1811 \| FIH1 \| FLJ20615 \| FLJ22027	hypoxia-inducible factor 1, alpha subunit inhibitor	-	HPRD,BioGRID	11641274
HIF3A	HIF-3A \| HIF-3A2 \| HIF-3A4 \| IPAS \| MOP7 \| PASD7 \| bHLHe17	hypoxia inducible factor 3, alpha subunit	-	HPRD	11734856
HSP90AA1	FLJ31884 \| HSP86 \| HSP89A \| HSP90A \| HSP90N \| HSPC1 \| HSPCA \| HSPCAL1 \| HSPCAL4 \| HSPN \| Hsp89 \| Hsp90 \| LAP2	heat shock protein 90kDa alpha (cytosolic), class A member 1	-	HPRD,BioGRID	9079689
JUN	AP-1 \| AP1 \| c-Jun	jun oncogene	-	HPRD,BioGRID	11739718
MAPK3	ERK1 \| HS44KDAP \| HUMKER1A \| MGC20180 \| P44ERK1 \| P44MAPK \| PRKM3	mitogen-activated protein kinase 3	-	HPRD	10551817
MDM2	HDMX \| MGC71221 \| hdm2	Mdm2 p53 binding protein homolog (mouse)	Affinity Capture-Western Biochemical Activity Reconstituted Complex	BioGRID	10640274 \|12606552
MDM2	HDMX \| MGC71221 \| hdm2	Mdm2 p53 binding protein homolog (mouse)	-	HPRD	10640274\|12606552
NCOA1	F-SRC-1 \| KAT13A \| MGC129719 \| MGC129720 \| NCoA-1 \| RIP160 \| SRC-1 \| SRC1 \| bHLHe42	nuclear receptor coactivator 1	-	HPRD,BioGRID	10594042
OS9	-	amplified in osteosarcoma	HIF-1 alpha interacts with OS-9.	BIND	15721254
PER1	MGC88021 \| PER \| RIGUI \| hPER	period homolog 1 (Drosophila)	-	HPRD,BioGRID	11726537
PGK1	MGC117307 \| MGC142128 \| MGC8947 \| MIG10 \| PGKA	phosphoglycerate kinase 1	-	HPRD	8089148
PSMA7	C6 \| HSPC \| MGC3755 \| RC6-1 \| XAPC7	proteasome (prosome, macropain) subunit, alpha type, 7	-	HPRD,BioGRID	11389899
PSMC3	MGC8487 \| TBP1	proteasome (prosome, macropain) 26S subunit, ATPase, 3	-	HPRD,BioGRID	14556007
RB1	OSRC \| RB \| p105-Rb \| pRb \| pp110	retinoblastoma 1	RB1 (pRB) interacts with HIF1A (HIF-1-alpha).	BIND	15674338
SP1	-	Sp1 transcription factor	Sp1 interacts with HIF-1alpha.	BIND	15780936
SSX4	MGC119056 \| MGC12411	synovial sarcoma, X breakpoint 4	Two-hybrid	BioGRID	16189514
TP53	FLJ92943 \| LFS1 \| TRP53 \| p53	tumor protein p53	Affinity Capture-Western Reconstituted Complex	BioGRID	9537326 \|10640274 \|12124396 \|12606552
TP53	FLJ92943 \| LFS1 \| TRP53 \| p53	tumor protein p53	-	HPRD	9537326\|12124396
TP53	FLJ92943 \| LFS1 \| TRP53 \| p53	tumor protein p53	p53 interacts with HIF-1 alpha.	BIND	15629713
TP53	FLJ92943 \| LFS1 \| TRP53 \| p53	tumor protein p53	HIF-1alpha interacts with p53	BIND	11593383
VEGFA	MGC70609 \| VEGF \| VEGF-A \| VPF	vascular endothelial growth factor A	HIF1A (HIF-1-alpha) interacts with the VEGF promoter.	BIND	15674338
VHL	HRCA1 \| RCA1 \| VHL1	von Hippel-Lindau tumor suppressor	Hydroxylated HIF-1 alpha interacts with VHL. This interaction was modeled on a demonstrated interaction between human hydroxylated HIF-1 alpha and an unspecified isoform of VHL from an unspecified species.	BIND	15721254
VHL	HRCA1 \| RCA1 \| VHL1	von Hippel-Lindau tumor suppressor	The von Hippel-Lindau tumor suppressor protein (pVHL) interacts with Hypoxia inducible factor-alpha (HIF-1 alpha)	BIND	10823831
VHL	HRCA1 \| RCA1 \| VHL1	von Hippel-Lindau tumor suppressor	-	HPRD	11504942
VHL	HRCA1 \| RCA1 \| VHL1	von Hippel-Lindau tumor suppressor	HIF1A (HIF-1alpha) interacts with VHL.	BIND	15750626
VHL	HRCA1 \| RCA1 \| VHL1	von Hippel-Lindau tumor suppressor	-	HPRD,BioGRID	10944113
VHLL	VLP	von Hippel-Lindau tumor suppressor-like	-	HPRD	14757845
ZNF197	D3S1363E \| P18 \| VHLaK \| ZKSCAN9 \| ZNF166 \| ZNF20	zinc finger protein 197	Affinity Capture-Western	BioGRID	12682018

Section V. Pathway annotation

Pathway name	Pathway size	# SZGR 2.0 genes in pathway	Info
KEGG MTOR SIGNALING PATHWAY	52	40	All SZGR 2.0 genes in this pathway
KEGG PATHWAYS IN CANCER	328	259	All SZGR 2.0 genes in this pathway
KEGG RENAL CELL CARCINOMA	70	60	All SZGR 2.0 genes in this pathway
BIOCARTA EPONFKB PATHWAY	11	11	All SZGR 2.0 genes in this pathway
BIOCARTA P53HYPOXIA PATHWAY	23	21	All SZGR 2.0 genes in this pathway
BIOCARTA HIF PATHWAY	15	12	All SZGR 2.0 genes in this pathway
BIOCARTA VEGF PATHWAY	29	18	All SZGR 2.0 genes in this pathway
PID AP1 PATHWAY	70	60	All SZGR 2.0 genes in this pathway
PID HIF1A PATHWAY	19	12	All SZGR 2.0 genes in this pathway
PID VEGFR1 PATHWAY	26	23	All SZGR 2.0 genes in this pathway
PID HIF1 TFPATHWAY	66	52	All SZGR 2.0 genes in this pathway
PID HES HEY PATHWAY	48	39	All SZGR 2.0 genes in this pathway
REACTOME NOTCH1 INTRACELLULAR DOMAIN REGULATES TRANSCRIPTION	46	28	All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY NOTCH1	70	46	All SZGR 2.0 genes in this pathway
REACTOME REGULATION OF HYPOXIA INDUCIBLE FACTOR HIF BY OXYGEN	25	17	All SZGR 2.0 genes in this pathway
REACTOME OXYGEN DEPENDENT PROLINE HYDROXYLATION OF HYPOXIA INDUCIBLE FACTOR ALPHA	18	12	All SZGR 2.0 genes in this pathway
REACTOME CIRCADIAN CLOCK	53	40	All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY NOTCH	103	64	All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS BASAL DN	455	304	All SZGR 2.0 genes in this pathway
LAIHO COLORECTAL CANCER SERRATED UP	112	71	All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 2 DN	281	186	All SZGR 2.0 genes in this pathway
ENK UV RESPONSE EPIDERMIS DN	508	354	All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN	1781	1082	All SZGR 2.0 genes in this pathway
HAMAI APOPTOSIS VIA TRAIL DN	186	107	All SZGR 2.0 genes in this pathway
MARKS HDAC TARGETS DN	15	11	All SZGR 2.0 genes in this pathway
BAKER HEMATOPOIESIS STAT3 TARGETS	16	12	All SZGR 2.0 genes in this pathway
MARTIN INTERACT WITH HDAC	44	31	All SZGR 2.0 genes in this pathway
HERNANDEZ ABERRANT MITOSIS BY DOCETACEL 4NM DN	7	6	All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN	855	609	All SZGR 2.0 genes in this pathway
HASINA NOL7 TARGETS UP	13	11	All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS POORLY DN	382	224	All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS MODERATELY DN	110	64	All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 48HR DN	428	306	All SZGR 2.0 genes in this pathway
BENPORATH MYC TARGETS WITH EBOX	230	156	All SZGR 2.0 genes in this pathway
BENPORATH CYCLING GENES	648	385	All SZGR 2.0 genes in this pathway
BENPORATH ES CORE NINE CORRELATED	100	68	All SZGR 2.0 genes in this pathway
ROZANOV MMP14 TARGETS SUBSET	33	20	All SZGR 2.0 genes in this pathway
ROZANOV MMP14 TARGETS UP	266	171	All SZGR 2.0 genes in this pathway
ROSS ACUTE MYELOID LEUKEMIA CBF	82	57	All SZGR 2.0 genes in this pathway
JECHLINGER EPITHELIAL TO MESENCHYMAL TRANSITION UP	71	51	All SZGR 2.0 genes in this pathway
DER IFN BETA RESPONSE UP	102	67	All SZGR 2.0 genes in this pathway
FERNANDEZ BOUND BY MYC	182	116	All SZGR 2.0 genes in this pathway
HARRIS HYPOXIA	81	64	All SZGR 2.0 genes in this pathway
SESTO RESPONSE TO UV C2	54	39	All SZGR 2.0 genes in this pathway
WANG CISPLATIN RESPONSE AND XPC DN	228	146	All SZGR 2.0 genes in this pathway
LU AGING BRAIN UP	262	186	All SZGR 2.0 genes in this pathway
JACKSON DNMT1 TARGETS UP	77	57	All SZGR 2.0 genes in this pathway
KEEN RESPONSE TO ROSIGLITAZONE DN	106	68	All SZGR 2.0 genes in this pathway
JIANG HYPOXIA NORMAL	311	205	All SZGR 2.0 genes in this pathway
HOWLIN CITED1 TARGETS 1 DN	37	22	All SZGR 2.0 genes in this pathway
ZHENG BOUND BY FOXP3	491	310	All SZGR 2.0 genes in this pathway
ZHENG FOXP3 TARGETS IN THYMUS UP	196	137	All SZGR 2.0 genes in this pathway
DE YY1 TARGETS DN	92	64	All SZGR 2.0 genes in this pathway
WINTER HYPOXIA METAGENE	242	168	All SZGR 2.0 genes in this pathway
YAUCH HEDGEHOG SIGNALING PARACRINE DN	264	159	All SZGR 2.0 genes in this pathway
WANG TUMOR INVASIVENESS UP	374	247	All SZGR 2.0 genes in this pathway
VART KSHV INFECTION ANGIOGENIC MARKERS UP	165	118	All SZGR 2.0 genes in this pathway
LEE LIVER CANCER SURVIVAL DN	175	103	All SZGR 2.0 genes in this pathway
GU PDEF TARGETS UP	71	49	All SZGR 2.0 genes in this pathway
ROSS LEUKEMIA WITH MLL FUSIONS	78	49	All SZGR 2.0 genes in this pathway
VANTVEER BREAST CANCER ESR1 DN	240	153	All SZGR 2.0 genes in this pathway
AGUIRRE PANCREATIC CANCER COPY NUMBER UP	298	174	All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS UP	491	316	All SZGR 2.0 genes in this pathway
SWEET KRAS ONCOGENIC SIGNATURE	89	56	All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA HAPTOTAXIS UP	518	299	All SZGR 2.0 genes in this pathway
VALK AML WITH 11Q23 REARRANGED	22	13	All SZGR 2.0 genes in this pathway
SAKAI CHRONIC HEPATITIS VS LIVER CANCER UP	83	63	All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SUBCLASS S1	237	159	All SZGR 2.0 genes in this pathway
ZHAN MULTIPLE MYELOMA LB DN	44	23	All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC	1103	714	All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 11	103	68	All SZGR 2.0 genes in this pathway
WHITFIELD CELL CYCLE M G1	148	95	All SZGR 2.0 genes in this pathway
HIRSCH CELLULAR TRANSFORMATION SIGNATURE UP	242	159	All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 6HR UP	229	149	All SZGR 2.0 genes in this pathway
PANGAS TUMOR SUPPRESSION BY SMAD1 AND SMAD5 DN	157	106	All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS UP	682	433	All SZGR 2.0 genes in this pathway
RAFFEL VEGFA TARGETS UP	9	8	All SZGR 2.0 genes in this pathway
IKEDA MIR133 TARGETS UP	43	27	All SZGR 2.0 genes in this pathway
ZWANG CLASS 1 TRANSIENTLY INDUCED BY EGF	516	308	All SZGR 2.0 genes in this pathway

Gene Page: HIF1A