Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	CCP110
Symbol Alias	KIAA0419, CP110
Approved Name	centriolar coiled coil protein 110kDa
Location	16p12.3
Position	chr16:19523811-19553408, 1
External Links	HGNC: 24342 Entrez Gene: 9738 Ensembl: ENSG00000103540 UCSC: uc002dgl.4
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: rs7190666	Putative damaging exonic variant was found within this gene.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 12)

GO terms by PBA (count: 0)

GO terms by database search (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030030	cell projection organization	biological process	IEA	3
GO:0000278	mitotic cell cycle	biological process	TAS	33
GO:0007099	centriole replication	biological process	IMP[16244668]	1
GO:0043234	protein complex	cellular component	IDA[24421332]	27
GO:0005829	cytosol	cellular component	TAS	223
GO:0051298	centrosome duplication	biological process	IDA[20596027]; IMP[12361598]	3
GO:0005813	centrosome	cellular component	IDA	34
GO:0005515	protein binding	molecular function	IPI[12361598]	563
GO:0032465	regulation of cytokinesis	biological process	IMP[16760425]	2
GO:0000086	G2/M transition of mitotic cell cycle	biological process	TAS	15
GO:0006996	organelle organization	biological process	TAS	23
GO:0005814	centriole	cellular component	IDA[17681131]	6

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: 15)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs7190666	chr16:19536794 - 19536794(1)	downstream_gene_variant; intron_variant; missense_variant; NMD_transcript_variant	1(0/0/1)

LD-proxies (count: 14)

rs_ID	Location	Functional Annotation
rs11646941	chr16:19523603 - 19523603(1)	upstream_gene_variant
rs2285659	chr16:19524370 - 19524370(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs8057847	chr16:19524216 - 19524216(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs12927277	chr16:19532659 - 19532659(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs12929603	chr16:19529703 - 19529703(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs7191012	chr16:19536968 - 19536968(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; synonymous_variant
rs2285660	chr16:19540394 - 19540394(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant
rs10521108	chr16:19534096 - 19534096(1)	intron_variant; NMD_transcript_variant
rs12447447	chr16:19535604 - 19535604(1)	intron_variant; NMD_transcript_variant
rs12597762	chr16:19555157 - 19555157(1)	downstream_gene_variant; upstream_gene_variant
rs2285662	chr16:19555872 - 19555872(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs2301687	chr16:19545608 - 19545608(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs12599884	chr16:19547727 - 19547727(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs2028264	chr16:19556775 - 19556775(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_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)
Chr 16	chr16:0-90338345	5 (1/3/1)
16p12	chr16:16700000-28500000	2 (1/1/0)
16p12.3-p13.1	chr16:10400000-21200000	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr16:19523811..19553408 View in gBrowse