Gene Page:NEFH

Summary?
GeneID 4744
Symbol NEFH
Synonyms NFH
Description neurofilament, heavy polypeptide
Reference MIM:162230|HGNC:HGNC:7737|Ensembl:ENSG00000100285|HPRD:01204|Vega:OTTHUMG00000151155
Gene type protein-coding
Map location 22q12.2
Pascal p-value 0.303
Sherlock p-value 0.275
Fetal beta -3.81
eGene Myers' cis & trans
元
Support STRUCTURAL 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 set Description Info
CV:PGCnp Genome-wide Association Study GWAS
PMID:cooccur High-throughput literature-search Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_I Genome scan meta-analysis Psr: 0.031
Literature High-throughput literature-search Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenias Click to show details
GO_Annotation Mapping neuro-related keywords to Gene Ontology annotations Hits with neuro-related keywords: 3

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs10510196 chr3 723427 NEFH 4744 0.08 trans
rs9903532 chr17 60991901 NEFH 4744 0.14 trans
rs6048101 chr20 22429986 NEFH 4744 0.07 trans
rs6036116 chr20 22430349 NEFH 4744 0.2 trans
rs4632416 chr20 22437090 NEFH 4744 0.07 trans
rs4459793 chr20 22439811 NEFH 4744 0.11 trans
rs6048112 chr20 22442814 NEFH 4744 0.17 trans

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 function 去的术语 Evidence Neuro keywords PubMed ID
GO:0003677 DNA binding IEA -
GO:0005198 structural molecule activity IEA -
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0007399 nervous system development NAS neurite (GO term level: 5) -
GO:0000226 microtubule cytoskeleton organization IEA -
GO:0006334 nucleosome assembly IEA -
GO:0045110 intermediate filament bundle assembly IEA -
GO:0060052 neurofilament cytoskeleton organization IEA -
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0005883 neurofilament NAS neuron, axon (GO term level: 11) 3138108
GO:0030424 axon TAS neuron, axon, Neurotransmitter (GO term level: 6) 14662745
GO:0000786 nucleosome IEA -
GO:0005634 nucleus IEA -
GO:0005739 mitochondrion IEA -

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
KEGG AMYOTROPHIC LATERAL SCLEROSIS ALS 53 43 All SZGR 2.0 genes in this pathway
LIU PROSTATE CANCER DN 481 290 All SZGR 2.0 genes in this pathway
WILCOX RESPONSE TO PROGESTERONE DN 66 44 All SZGR 2.0 genes in this pathway
CASORELLI ACUTE PROMYELOCYTIC LEUKEMIA DN 663 425 All SZGR 2.0 genes in this pathway
SLEBOS HEAD AND NECK CANCER WITH HPV UP 84 43 All SZGR 2.0 genes in this pathway
TONKS TARGETS OF RUNX1 RUNX1T1 FUSION HSC DN 187 115 All SZGR 2.0 genes in this pathway
TONKS TARGETS OF RUNX1 RUNX1T1 FUSION GRANULOCYTE UP 55 34 All SZGR 2.0 genes in this pathway
TONKS TARGETS OF RUNX1 RUNX1T1 FUSION MONOCYTE UP 204 140 All SZGR 2.0 genes in this pathway
唐克斯的目标RUNX1 RUNX1T1融合持续MONOCYTE UP 21 15 All SZGR 2.0 genes in this pathway
WOOD EBV EBNA1 TARGETS UP 110 71 All SZGR 2.0 genes in this pathway
WANG HCP PROSTATE CANCER 111 69 All SZGR 2.0 genes in this pathway
GARCIA TARGETS OF FLI1 AND DAX1 DN 176 104 All SZGR 2.0 genes in this pathway
KOYAMA SEMA3B TARGETS DN 411 249 All SZGR 2.0 genes in this pathway
BENPORATH SUZ12 TARGETS 1038 678 All SZGR 2.0 genes in this pathway
BENPORATH ES WITH H3K27ME3 1118 744 All SZGR 2.0 genes in this pathway
LEE TARGETS OF PTCH1 AND SUFU DN 83 69 All SZGR 2.0 genes in this pathway
SCHUHMACHER MYC目标了 80 57 All SZGR 2.0 genes in this pathway
ADDYA ERYTHROID DIFFERENTIATION BY HEMIN 73 47 All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237 837 All SZGR 2.0 genes in this pathway
SATO SILENCED BY METHYLATION IN PANCREATIC CANCER 2 50 34 All SZGR 2.0 genes in this pathway
MCCLUNG DELTA FOSB TARGETS 2WK 48 36 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 12HR UP 111 68 All SZGR 2.0 genes in this pathway
SATO SILENCED BY METHYLATION IN PANCREATIC CANCER 1 419 273 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 DN 1011 592 All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL UP 648 398 All SZGR 2.0 genes in this pathway
BOYLAN MULTIPLE MYELOMA D CLUSTER UP 27 19 All SZGR 2.0 genes in this pathway
BOYLAN MULTIPLE MYELOMA D UP 89 62 All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305 895 All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K4ME3 AND H3K27ME3 1069 729 All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3K4ME2 AND H3K27ME3 349 234 All SZGR 2.0 genes in this pathway
MIKKELSEN MCV6 HCP WITH H3K27ME3 435 318 All SZGR 2.0 genes in this pathway
NAKAYAMA SOFT TISSUE TUMORS PCA1 DN 74 47 All SZGR 2.0 genes in this pathway
CHANDRAN METASTASIS DN 306 191 All SZGR 2.0 genes in this pathway
MIKKELSEN NPC HCP WITH H3K27ME3 341 243 All SZGR 2.0 genes in this pathway
金ALL DISORDERS OLIGODENDROCYTE NUMBER CORR UP 756 494 All SZGR 2.0 genes in this pathway
CHYLA CBFA2T3 TARGETS DN 242 146 All SZGR 2.0 genes in this pathway
CERIBELLI GENES INACTIVE AND BOUND BY NFY 45 27 All SZGR 2.0 genes in this pathway
MADAN DPPA4 TARGETS 46 26 All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA family Target position miRNA ID miRNA seq
UTR start UTR end Match method
miR-25/32/92/363/367 555 562 1A,m8 hsa-miR-25brain CAUUGCACUUGUCUCGGUCUGA
hsa-miR-32 UAUUGCACAUUACUAAGUUGC
hsa-miR-92 UAUUGCACUUGUCCCGGCCUG
hsa-miR-367 AAUUGCACUUUAGCAAUGGUGA
hsa-miR-92bSZ UAUUGCACUCGUCCCGGCCUC
miR-9 29 35 1A hsa-miR-9SZ UCUUUGGUUAUCUAGCUGUAUGA