Summary ?
GeneID4744
SymbolNEFH
SynonymsNFH
Descriptionneurofilament, heavy polypeptide
ReferenceMIM:162230|HGNC:HGNC:7737|Ensembl:ENSG00000100285|HPRD:01204|Vega:OTTHUMG00000151155
Gene typeprotein-coding
Map location22q12.2
Pascal p-value0.303
Sherlock p-value0.275
Fetal beta-3.81
eGeneMyers' cis & trans
Meta
SupportSTRUCTURAL PLASTICITY
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
CompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_IGenome scan meta-analysisPsr: 0.031 
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 3 

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs10510196chr3723427NEFH47440.08trans
rs9903532chr1760991901NEFH47440.14trans
rs6048101chr2022429986NEFH47440.07trans
rs6036116chr2022430349NEFH47440.2trans
rs4632416chr2022437090NEFH47440.07trans
rs4459793chr2022439811NEFH47440.11trans
rs6048112chr2022442814NEFH47440.17trans

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.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0003677DNA bindingIEA-
GO:0005198structural molecule activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007399nervous system developmentNASneurite (GO term level: 5)-
GO:0000226microtubule cytoskeleton organizationIEA-
GO:0006334nucleosome assemblyIEA-
GO:0045110intermediate filament bundle assemblyIEA-
GO:0060052neurofilament cytoskeleton organizationIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005883neurofilamentNASneuron, axon (GO term level: 11)3138108 
GO:0030424axonTASneuron, axon, Neurotransmitter (GO term level: 6)14662745 
GO:0000786nucleosomeIEA-
GO:0005634nucleusIEA-
GO:0005739mitochondrionIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG AMYOTROPHIC LATERAL SCLEROSIS ALS 5343All SZGR 2.0 genes in this pathway
LIU PROSTATE CANCER DN 481290All SZGR 2.0 genes in this pathway
WILCOX RESPONSE TO PROGESTERONE DN 6644All SZGR 2.0 genes in this pathway
CASORELLI ACUTE PROMYELOCYTIC LEUKEMIA DN 663425All SZGR 2.0 genes in this pathway
SLEBOS HEAD AND NECK CANCER WITH HPV UP 8443All SZGR 2.0 genes in this pathway
TONKS TARGETS OF RUNX1 RUNX1T1 FUSION HSC DN 187115All SZGR 2.0 genes in this pathway
TONKS TARGETS OF RUNX1 RUNX1T1 FUSION GRANULOCYTE UP 5534All SZGR 2.0 genes in this pathway
TONKS TARGETS OF RUNX1 RUNX1T1 FUSION MONOCYTE UP 204140All SZGR 2.0 genes in this pathway
TONKS TARGETS OF RUNX1 RUNX1T1 FUSION SUSTAINED IN MONOCYTE UP 2115All SZGR 2.0 genes in this pathway
WOOD EBV EBNA1 TARGETS UP 11071All SZGR 2.0 genes in this pathway
WANG HCP PROSTATE CANCER 11169All SZGR 2.0 genes in this pathway
GARCIA TARGETS OF FLI1 AND DAX1 DN 176104All SZGR 2.0 genes in this pathway
KOYAMA SEMA3B TARGETS DN 411249All SZGR 2.0 genes in this pathway
BENPORATH SUZ12 TARGETS 1038678All SZGR 2.0 genes in this pathway
BENPORATH ES WITH H3K27ME3 1118744All SZGR 2.0 genes in this pathway
LEE TARGETS OF PTCH1 AND SUFU DN 8369All SZGR 2.0 genes in this pathway
SCHUHMACHER MYC TARGETS UP 8057All SZGR 2.0 genes in this pathway
ADDYA ERYTHROID DIFFERENTIATION BY HEMIN 7347All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237837All SZGR 2.0 genes in this pathway
SATO SILENCED BY METHYLATION IN PANCREATIC CANCER 2 5034All SZGR 2.0 genes in this pathway
MCCLUNG DELTA FOSB TARGETS 2WK 4836All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 12HR UP 11168All SZGR 2.0 genes in this pathway
SATO SILENCED BY METHYLATION IN PANCREATIC CANCER 1 419273All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR DN 911527All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR DN 1011592All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL UP 648398All SZGR 2.0 genes in this pathway
BOYLAN MULTIPLE MYELOMA D CLUSTER UP 2719All SZGR 2.0 genes in this pathway
BOYLAN MULTIPLE MYELOMA D UP 8962All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305895All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K4ME3 AND H3K27ME3 1069729All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3K4ME2 AND H3K27ME3 349234All SZGR 2.0 genes in this pathway
MIKKELSEN MCV6 HCP WITH H3K27ME3 435318All SZGR 2.0 genes in this pathway
NAKAYAMA SOFT TISSUE TUMORS PCA1 DN 7447All SZGR 2.0 genes in this pathway
CHANDRAN METASTASIS DN 306191All SZGR 2.0 genes in this pathway
MIKKELSEN NPC HCP WITH H3K27ME3 341243All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS OLIGODENDROCYTE NUMBER CORR UP 756494All SZGR 2.0 genes in this pathway
CHYLA CBFA2T3 TARGETS DN 242146All SZGR 2.0 genes in this pathway
CERIBELLI GENES INACTIVE AND BOUND BY NFY 4527All SZGR 2.0 genes in this pathway
MADAN DPPA4 TARGETS 4626All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-25/32/92/363/3675555621A,m8hsa-miR-25brainCAUUGCACUUGUCUCGGUCUGA
hsa-miR-32UAUUGCACAUUACUAAGUUGC
hsa-miR-92UAUUGCACUUGUCCCGGCCUG
hsa-miR-367AAUUGCACUUUAGCAAUGGUGA
hsa-miR-92bSZUAUUGCACUCGUCCCGGCCUC
miR-929351Ahsa-miR-9SZUCUUUGGUUAUCUAGCUGUAUGA