Gene Report

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Basic Info

Approved Symbol	CFAP46
Previous Symbol	C10orf123, C10orf124, C10orf93, C10orf92, TTC40
Symbol Alias	DKFZp434A1721, bA288G11.4, bA288G11.5, bB137A17.2, FLJ25954, bB137A17.3
Approved Name	cilia and flagella associated protein 46
Previous Name	chromosome 10 open reading frame 123, "chromosome 10 open reading frame 124", "chromosome 10 open reading frame 93", "chromosome 10 open reading frame 92", "tetratricopeptide repeat domain 40"
Location	10q26.3
Position	chr10:132808392-132942823, -1
External Links	HGNC: 25247 Entrez Gene: 54777 Ensembl: ENSG00000171811 UCSC: uc021qbc.1
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
Cruceanu, C., 2013	Other variant: CFAP46_Chr10:134730168_G/A	Rare variant was found within this gene.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005856	cytoskeleton	cellular component	IEA	30
GO:0035082	axoneme assembly	biological process	ISS	1
GO:0005930	axoneme	cellular component	ISS	4

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: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
CFAP46_Chr10:134730168_G/A	Missense	Chr10:134730168	1 (0/0/1)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 10	chr10:0-133797422	3 (0/2/1)
10q25-q26	chr10:104000000-133797422	2 (0/0/2)
10q26.3	chr10:128800000-133797422	1 (0/0/1)
10q26	chr10:117300000-133797422	3 (0/1/2)

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

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr10:132808392..132942823 View in gBrowse