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	FHIT
Symbol Alias	FRA3B, AP3Aase
Approved Name	fragile histidine triad gene
Location	3p14.2
Position	chr3:59735036-61237133, -
External Links	HGNC: 3701 Entrez Gene: 2272 Ensembl: ENSG00000189283 UCSC: uc003dkx.3
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
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
Lasky-Su J, 2008	1 flanking SNPs of this gene with P-value<1E-5.	Trend

Gene related SNPs (count: 11)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs6791644	Chr3:60771108(Fwd)	intron_variant; nc_transcript_variant	1(0/0/1)

LD-proxies (count: 10)

rs_ID	Location	Functional Annotation
rs4974241	Chr3:60775460(Fwd)	intron_variant; nc_transcript_variant
rs12492010	Chr3:60777932(Fwd)	intron_variant; nc_transcript_variant
rs17063990	Chr3:60771914(Fwd)	intron_variant; nc_transcript_variant
rs1014856	Chr3:60774117(Fwd)	intron_variant; nc_transcript_variant
rs1447927	Chr3:60787599(Fwd)	intron_variant; nc_transcript_variant
rs4974228	Chr3:60763597(Fwd)	intron_variant; nc_transcript_variant
rs12492901	Chr3:60767452(Fwd)	intron_variant; nc_transcript_variant
rs6794160	Chr3:60771321(Fwd)	intron_variant; nc_transcript_variant
rs17680697	Chr3:60759742(Fwd)	intron_variant; nc_transcript_variant
rs12491786	Chr3:60762575(Fwd)	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: 8)

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

GO terms by database search (count: 8)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0003824	catalytic activity	Molecular Function	TAS[8598045]	15
GO:0005515	protein binding	Molecular Function	IPI[18319262]	910
GO:0005737	cytoplasm	Cellular Component		690
GO:0006260	DNA replication	Biological Process		27
GO:0009117	nucleotide metabolic process	Biological Process	TAS[8794732]	5
GO:0016787	hydrolase activity	Molecular Function	IDA[8794732]	12
GO:0043231	intracellular membrane-bounded organelle	Cellular Component		62
GO:0047710	bis(5'-adenosyl)-triphosphatase activity	Molecular Function	IDA[8794732]	1

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05223	Non-small cell lung cancer	10	Lung cancer is a leading cause of cancer death among men and...... Lung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heterogeneous group of cancers, consisting mainly of squamous cell (SCC), adeno (AC) and large-cell carcinoma. Molecular mechanisms altered in NSCLC include activation of oncogenes, such as K-RAS and c-erbB-2, and inactivation of tumorsuppressor genes, such as p53, p16INK4a, RAR-beta, and RASSF1. Point mutations within the K-RAS gene inactivate GTPase activity and the p21-RAS protein continuously transmits growth signals to the nucleus. Overexpression of c-erbB-2 or EGFR leads to a proliferative advantage. Inactivating mutation of p53 can lead to more rapid proliferation and reduced apoptosis. The protein encoded by the p16INK4a inhibits formation of CDK-cyclin-D complexes by competitive binding of CDK4 and CDK6. Loss of p16INK4a expression is a common feature of NSCLC. RAR-beta is a nuclear receptor that bears vitamin-A-dependent transcriptional activity. RASSF1A is able to form heterodimers with Nore-1, an RAS effector.Therefore loss of RASSF1A might shift the balance of RAS activity towards a growth-promoting effect. More...
hsa00230	Purine metabolism	22
hsa05222	Small cell lung cancer	16	Lung cancer is a leading cause of cancer death among men and...... Lung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% of all lung cancer cases. Molecular mechanisms altered in SCLC include induced expression of oncogene, MYC, and loss of tumorsuppressor genes, such as p53, PTEN, RB, and FHIT. The overexpression of MYC proteins in SCLC is largely a result of gene amplification. Such overexpression leads to more rapid proliferation and loss of terminal differentiation. Mutation or deletion of p53 or PTEN can lead to more rapid proliferation and reduced apoptosis. The retinoblastoma gene RB1 encodes a nuclear phosphoprotein that helps to regulate cell-cycle progression. The fragile histidine triad gene FHIT encodes the enzyme diadenosine triphosphate hydrolase, which is thought to have an indirect role in proapoptosis and cell-cycle control. More...

Genes shared at least 5 GO terms with FHIT (count: 0)

Genes shared at least 2 KEGG pathways with FHIT (count: 3)

Gene Symbol	Pathway Count	Pathway List
CCND1	2	Non-small cell lung cancer; Small cell lung cancer;
PIK3CG	2	Non-small cell lung cancer; Small cell lung cancer;
PIK3R1	2	Non-small cell lung cancer; Small cell lung cancer;

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Region: chr3:59735036..61237133 View in gBrowse