Gene Report

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Basic Info

Approved Symbol	POLN
Approved Name	polymerase (DNA directed) nu
Location	4p16.3
Position	chr4:2071918-2242121, -1
External Links	HGNC: 18870 Entrez Gene: 353497 Ensembl: ENSG00000130997 UCSC: uc003ger.2
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Georgi, B., 2014	SNP: rs2353552	Putative damaging exonic variant was found within this gene.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003677	DNA binding	molecular function	IEA	83
GO:0005634	nucleus	cellular component	IDA	283

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030332	cyclin binding	molecular function	IPI[19995904]	2
GO:0006261	DNA-dependent DNA replication	biological process	IEA	3
GO:0036297	interstrand cross-link repair	biological process	IMP[19908865]	1
GO:0003887	DNA-directed DNA polymerase activity	molecular function	IDA[12794064]	2
GO:0005515	protein binding	molecular function	IPI[19995904]	563
GO:0005654	nucleoplasm	cellular component	IDA	163
GO:0019985	translesion synthesis	biological process	IDA[20102227]; IMP[19908865]	1
GO:0005730	nucleolus	cellular component	IDA[12794064]	28
GO:0043231	intracellular membrane-bounded organelle	cellular component	IDA	34
GO:0000724	double-strand break repair via homologous recombination	biological process	IMP[19995904]	9

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2353552	chr4:2208338 - 2208338(1)	missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/0/1)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs588341		chr4:2072799 - 2072799(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
4p16.3	chr4:0-4500000	1 (1/0/0)
Chr 4	chr4:0-190214555	3 (0/3/0)
4p16	chr4:0-11300000	2 (0/1/1)
4p	chr4:0-50000000	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr4:2071918..2242121 View in gBrowse