Summary ?
GeneID9421
SymbolHAND1
SynonymsHxt|Thing1|bHLHa27|eHand
Descriptionheart and neural crest derivatives expressed 1
ReferenceMIM:602406|HGNC:HGNC:4807|Ensembl:ENSG00000113196|HPRD:03871|Vega:OTTHUMG00000130193
Gene typeprotein-coding
Map location5q33
Pascal p-value0.015
Fetal beta-0.384
DMG1 (# studies)

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 1
GSMA_IGenome scan meta-analysisPsr: 0.0032 
GSMA_IIEGenome scan meta-analysis (European-ancestry samples)Psr: 0.01718 
GSMA_IIAGenome scan meta-analysis (All samples)Psr: 0.00459 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg255875355153857846HAND12.288E-4-0.2550.036DMG:Wockner_2014


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

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
GenePearson's Correlation Spearman's Correlation
MAVS0.890.88
NUP2100.870.87
EIF2C10.870.82
SP10.870.84
MAML10.860.83
ZNF5160.860.87
PDPR0.850.84
FAM53B0.840.86
CTDSP20.840.85
KIAA03550.840.84
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AF347015.31-0.48-0.55
AF347015.21-0.47-0.64
C5orf53-0.47-0.50
RERGL-0.47-0.61
IFI27-0.46-0.50
GMFG-0.46-0.60
C1orf54-0.46-0.60
SYCP3-0.46-0.58
CARD16-0.45-0.56
MYL3-0.45-0.53

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0003700transcription factor activityTAS9931445 
GO:0008134transcription factor bindingIEA-
GO:0016564transcription repressor activityIEA-
GO:0042803protein homodimerization activityIEA-
GO:0046982protein heterodimerization activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0000122negative regulation of transcription from RNA polymerase II promoterIEA-
GO:0001525angiogenesisIEA-
GO:0001707mesoderm formationIEA-
GO:0006355regulation of transcription, DNA-dependentIEA-
GO:0007507heart developmentTAS9931445 
GO:0007275multicellular organismal developmentIEA-
GO:0030154cell differentiationIEA-
GO:0045944positive regulation of transcription from RNA polymerase II promoterIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005634nucleusIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
BIOCARTA NFAT PATHWAY 5645All SZGR 2.0 genes in this pathway
MAHADEVAN IMATINIB RESISTANCE DN 2011All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA PROGRESSION RISK 7444All SZGR 2.0 genes in this pathway
RIZ ERYTHROID DIFFERENTIATION 12HR 4335All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
SHETH LIVER CANCER VS TXNIP LOSS PAM5 9459All SZGR 2.0 genes in this pathway
BENPORATH EED TARGETS 1062725All SZGR 2.0 genes in this pathway
BENPORATH ES WITH H3K27ME3 1118744All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL AND BRAIN QTL TRANS 185114All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL QTL TRANS 882572All SZGR 2.0 genes in this pathway
NOUZOVA METHYLATED IN APL 6839All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS STEM CELL LONG TERM 302191All SZGR 2.0 genes in this pathway
XU GH1 EXOGENOUS TARGETS UP 8550All SZGR 2.0 genes in this pathway
XU GH1 AUTOCRINE TARGETS UP 268157All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305895All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3 UNMETHYLATED 536296All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K27ME3 269159All SZGR 2.0 genes in this pathway
MIKKELSEN MEF HCP WITH H3K27ME3 590403All SZGR 2.0 genes in this pathway
MARTENS TRETINOIN RESPONSE UP 857456All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
let-7/987447511A,m8hsa-let-7abrainUGAGGUAGUAGGUUGUAUAGUU
hsa-let-7bbrainUGAGGUAGUAGGUUGUGUGGUU
hsa-let-7cbrainUGAGGUAGUAGGUUGUAUGGUU
hsa-let-7dbrainAGAGGUAGUAGGUUGCAUAGU
hsa-let-7ebrainUGAGGUAGGAGGUUGUAUAGU
hsa-let-7fbrainUGAGGUAGUAGAUUGUAUAGUU
hsa-miR-98brainUGAGGUAGUAAGUUGUAUUGUU
hsa-let-7gSZUGAGGUAGUAGUUUGUACAGU
hsa-let-7ibrainUGAGGUAGUAGUUUGUGCUGU
miR-1966846911A,m8hsa-miR-196aUAGGUAGUUUCAUGUUGUUGG
hsa-miR-196bUAGGUAGUUUCCUGUUGUUGG
miR-25/32/92/363/367175181m8hsa-miR-25brainCAUUGCACUUGUCUCGGUCUGA
hsa-miR-32UAUUGCACAUUACUAAGUUGC
hsa-miR-92UAUUGCACUUGUCCCGGCCUG
hsa-miR-367AAUUGCACUUUAGCAAUGGUGA
hsa-miR-92bSZUAUUGCACUCGUCCCGGCCUC
hsa-miR-25brainCAUUGCACUUGUCUCGGUCUGA
hsa-miR-32UAUUGCACAUUACUAAGUUGC
hsa-miR-92UAUUGCACUUGUCCCGGCCUG
hsa-miR-367AAUUGCACUUUAGCAAUGGUGA
hsa-miR-92bSZUAUUGCACUCGUCCCGGCCUC
miR-334314371Ahsa-miR-33GUGCAUUGUAGUUGCAUUG
hsa-miR-33bGUGCAUUGCUGUUGCAUUGCA
miR-3358038101A,m8hsa-miR-335brainUCAAGAGCAAUAACGAAAAAUGU
miR-363174180m8hsa-miR-363AUUGCACGGUAUCCAUCUGUAA