Gene Report

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Basic Info

Approved Symbol	KHDC1
Previous Symbol	C6orf148, C6orf147
Symbol Alias	MGC10818, bA257K9.4, NDG1, Em:AC019205.8
Approved Name	KH homology domain containing 1
Previous Name	chromosome 6 open reading frame 148, "chromosome 6 open reading frame 147"
Location	6q13
Position	chr6:73241314-73310365, -1
External Links	HGNC: 21366 Entrez Gene: 80759 Ensembl: ENSG00000135314 UCSC: uc003pgn.4
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
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
Xu, W., 2014	SNP: rs520570	The SNP within or near this gene did not achieve genome-wide significance.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016021	integral component of membrane	cellular component	IEA	219

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003723	RNA binding	molecular function	IEA	14

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)
rs520570	chr6:73288093 - 73288093(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs966427		chr6:73258982 - 73258982(1)	intron_variant; NMD_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
6p12-q13	chr6:46200000-75200000	1 (0/1/0)
Chr 6	chr6:0-170805979	3 (0/3/0)
6q13-q14	chr6:69200000-87300000	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: chr6:73241314..73310365 View in gBrowse