ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	CNTFR
Approved Name	ciliary neurotrophic factor receptor
Location	9p13
Position	chr9:34551430-34590121, -
External Links	HGNC: 2170 Entrez Gene: 1271 Ensembl: ENSG00000122756 UCSC: uc003zuq.1
No. of Studies	1 (significant: 1; non-significant: 0; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Ribases M, 2008	a three-marker haplotype (rs7036351-rs1080750-rs1124882) global P-value=0.042, Best Haplotype P-value=0.0077, Adjusted P-value=0.031, OR=1.38 (1.10-1.74) in adults; global P-value=0.0069, Best Haplotype P-value=9.1e-04, Adjusted P-value=0.0052, OR=1.40 (1.15-1.72) in children; global P-value=0.0019, Best Haplotype P-value=2.0e-04, Adjusted P-value=0.0014, OR=1.39 (1.17-1.66) in adults and children; Haplotype-Specific(CGC) P-value=0.0077; OR(CI)=1.38(1.10-1.74) in adults; Haplotype-Specific(CGC) P-value=9.1e-04; OR(CI)=1.40(1.15-1.72) in children; Haplotype-Specific(CGC) P-value=2.0e-04; OR(CI)=1.39(1.17-1.66) in children and adults	Significant

Gene related SNPs (count: 11)

Literature-origin SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs3763613	Chr9:34584319(Fwd)	downstream_gene_variant; intron_variant	1(1/0/0)
rs1080750	Chr9:34581525(Fwd)	intron_variant; nc_transcript_variant	1(1/0/0)
rs2381164	Chr9:34553968(Fwd)	downstream_gene_variant; intron_variant	1(1/0/0)
rs7036351	Chr9:34592699(Fwd)	upstream_gene_variant	1(1/0/0)

LD-proxies (count: 7)

rs_ID	Location	Functional Annotation
rs10738931	Chr9:34565781(Fwd)	intron_variant; upstream_gene_variant
rs4472605	Chr9:34566190(Fwd)	intron_variant; upstream_gene_variant
rs2274592	Chr9:34552437(Fwd)	downstream_gene_variant; intron_variant
rs4363285	Chr9:34553667(Fwd)	downstream_gene_variant; intron_variant
rs10758267	Chr9:34566734(Fwd)	intron_variant; upstream_gene_variant
rs10814119	Chr9:34550295(Fwd)	downstream_gene_variant; upstream_gene_variant
rs10758268	Chr9:34572767(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 16)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 16)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0031225	anchored to membrane	Cellular Component		29
GO:0043524	negative regulation of neuron apoptotic process	Biological Process		19
GO:0060538	skeletal muscle organ development	Biological Process		1
GO:0070120	ciliary neurotrophic factor-mediated signaling pathway	Biological Process	IDA[12643274]	3
GO:0007548	sex differentiation	Biological Process		3
GO:0008284	positive regulation of cell proliferation	Biological Process		69
GO:0019898	extrinsic to membrane	Cellular Component	TAS[1648265]	8
GO:0019955	cytokine binding	Molecular Function	IPI[15272019]	4
GO:0005102	receptor binding	Molecular Function	IPI[12707266]	61
GO:0005886	plasma membrane	Cellular Component		772
GO:0007165	signal transduction	Biological Process	NAS[1648265]	171
GO:0007399	nervous system development	Biological Process	TAS[7585948]	54
GO:0001967	suckling behavior	Biological Process		4
GO:0003360	brainstem development	Biological Process		2
GO:0004897	ciliary neurotrophic factor receptor activity	Molecular Function	IDA[12643274]	2
GO:0097059	CNTFR-CLCF1 complex	Cellular Component	IDA[11285233]	2

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04060	Cytokine-cytokine receptor interaction	38	Cytokines are soluble extracellular proteins or glycoprotein...... Cytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell growth, differentiation, cell death, angiogenesis, and development and repair processes aimed at the restoration of homeostasis. Cytokines are released by various cells in the body, usually in response to an activating stimulus, and they induce responses through binding to specific receptors on the cell surface of target cells. Cytokines can be grouped by structure into different families and their receptors can likewise be grouped. More...
hsa04630	Jak-STAT signaling pathway	22	The Janus kinase/signal transducers and activators of transc...... The Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeostasis in animals, from humans to flies. In mammals, the JAK/STAT pathway is the principal signaling mechanism for a wide array of cytokines and growth factors. Following the binding of cytokines to their cognate receptor, STATs are activated by members of the JAK family of tyrosine kinases. Once activated, they dimerize and translocate to the nucleus and modulate the expression of target genes. In addition to the activation of STATs, JAKs mediate the recruitment of other molecules such as the MAP kinases, PI3 kinase etc. These molecules process downstream signals via the Ras-Raf-MAP kinase and PI3 kinase pathways which results in the activation of additional transcription factors. More...

Genes shared at least 5 GO terms with CNTFR (count: 1)

Gene Symbol	Pathway Count	Pathway List
NTF3	5	negative regulation of neuron apoptotic process; positive regulation of cell proliferation; receptor binding; signal transduction; nervous system development;

Genes shared at least 2 KEGG pathways with CNTFR (count: 16)

Gene Symbol	Pathway Count	Pathway List
CLCF1	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
CNTF	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
CTF1	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
GHR	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
IFNGR1	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
IL10RA	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
IL11RA	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
IL12B	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
IL20RA	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
IL22RA2	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
IL5RA	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
IL6	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
IL7R	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
LIFR	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
OSMR	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;
PRLR	2	Cytokine-cytokine receptor interaction; Jak-STAT signaling pathway;

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Region: chr9:34551430..34590121 View in gBrowse