ADHDgene Database

Gene Report

Basic Info

Approved Symbol	FANCL
Previous Symbol	PHF9
Symbol Alias	FLJ10335, FAAP43, Pog
Approved Name	Fanconi anemia, complementation group L
Previous Name	"PHD finger protein 9"
Location	2p16.1
Position	chr2:58386378-58468507, -1
External Links	HGNC: 20748 Entrez Gene: 55120 Ensembl: ENSG00000115392 UCSC: uc002rzx.4
No. of Studies	1 (significant: 0; non-significant: 1; trend: 0)
Source	Literature-origin

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Albayrak O., 2013	No significant association was reported in this study.	Non-significant

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs887912	chr2:59302877(Fwd)		1(0/1/0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0008270	zinc ion binding	molecular function	IEA	367
GO:0006281	DNA repair	biological process	IMP[16916645]; TAS	70
GO:0031625	ubiquitin protein ligase binding	molecular function	IPI[19111657]	30
GO:0005654	nucleoplasm	cellular component	TAS	210
GO:0007276	gamete generation	biological process	IEA	3
GO:0005635	nuclear envelope	cellular component	IEA	22
GO:0043240	Fanconi anaemia nuclear complex	cellular component	IDA	3
GO:0004842	ubiquitin-protein ligase activity	molecular function	IDA[19111657]; ISS; TAS	60
GO:0006513	protein monoubiquitination	biological process	IDA[16916645]	3
GO:0006974	response to DNA damage stimulus	biological process	IMP[16916645]	41
GO:0005737	cytoplasm	cellular component	IEA	781
GO:0042127	regulation of cell proliferation	biological process	IEA	22

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04120	Ubiquitin mediated proteolysis	34

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

Gene Symbol	Pathway Count	Pathway List
HERC2	6	zinc ion binding; DNA repair; ubiquitin protein ligase binding; ubiquitin-protein ligase activity; response to DNA damage stimulus; cytoplasm;
PARK2	5	zinc ion binding; ubiquitin protein ligase binding; ubiquitin-protein ligase activity; protein monoubiquitination; cytoplasm;
BARD1	5	zinc ion binding; DNA repair; ubiquitin-protein ligase activity; response to DNA damage stimulus; cytoplasm;
TRIP12	5	DNA repair; nucleoplasm; ubiquitin-protein ligase activity; response to DNA damage stimulus; cytoplasm;
FANCA	5	DNA repair; nucleoplasm; Fanconi anaemia nuclear complex; cytoplasm; regulation of cell proliferation;

Genes shared at least 2 KEGG pathways with FANCL (count: 0)

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Region: chr2:58386378..58468507 View in gBrowse