Gene Report

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Basic Info

Approved Symbol	KLHDC1
Symbol Alias	MST025
Approved Name	kelch domain containing 1
Location	14q21.3
Position	chr14:49693105-49753152, 1
External Links	HGNC: 19836 Entrez Gene: 122773 Ensembl: ENSG00000197776 UCSC: uc001www.3
No. of Studies	2 (Positive: 1; Negative: 0; trend: 1)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Feng, T.,2010	SNP: rs10149544	This gene showed moderate association evidence.	Trend	Comment on Study
Moskvina, V.,2009		In BP:Smallest P-value per gene=0.00017, Product of P truncation <=0.01=0.00015, Product of P truncation <=0.001=0.00015. It showed evidence for association with BD.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005737	cytoplasm	cellular component	IDA	322

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: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs10149544	chr14:49694971 - 49694971(1)	intron_variant; NMD_transcript_variant	1(0/0/1)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
14q21	chr14:37400000-50400000	3 (2/0/1)
14q13.2-21.3	chr14:34800000-50400000	1 (0/1/0)
Chr 14	chr14:0-107043718	2 (0/2/0)
14q12-q22.3	chr14:24100000-57600000	1 (1/0/0)
14q13.1-q24.1	chr14:32900000-69800000	1 (0/1/0)

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

Gene relationship with SZ

Reference	Description	Result Category
19065143	It showed no evidence for association with SZ.	Negative

Gene relationship with MDD

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Region: chr14:49693105..49753152 View in gBrowse