Hs02127240_cn

• Gene Symbol: CFAP46
• Assay Reference Genome Location: Chr.10:132833520 on build GRCh38
• Cytoband: 10q26.3

Target Gene Details

• Entrez Gene ID: 54777
• Gene Name: cilia and flagella associated protein 46
• Gene Aliases: C10orf123, C10orf124, C10orf92, C10orf93, TTC40, bA288G11.4, bA288G11.5, bB137A17.2, bB137A17.3
• Location: Chr.10:132808392-132942585 on Build GRCh38
• Assay Gene Location: Overlaps Intron 49 - Exon 50

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CFAP46	NM_001200049.2			NP_001186978.2
	AL122111.1			CAB59272.3
	BC034223.1			AAH34223.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2750852	Chr.10:132797506 - 132852920 on Build GRCh38	Gain	CFAP46
nsv1042708	Chr.10:132791887 - 132988338 on Build GRCh38	Gain	CFAP46 LINC01167 LINC01166 LINC01168
nsv832033	Chr.10:132743736 - 132870955 on Build GRCh38	Loss	NKX6-2 CFAP46 INPP5A
dgv995n100	Chr.10:132825790 - 133019278 on Build GRCh38	Gain	CFAP46 LINC01167 LINC01166 LINC01168
nsv1054934	Chr.10:130334322 - 133158679 on Build GRCh38	Gain	NKX6-2 TCERG1L-AS1 PPP2R2D TCERG1L CFAP46 DPYSL4 JAKMIP3 MIR378C LINC01167 LINC01166 ADGRA1-AS1 LOC107984282 PWWP2B LRRC27 LOC105378568 C10orf91 ADGRA1 BNIP3 INPP5A LINC01164 LINC01168 STK32C
nsv832034	Chr.10:132761541 - 132940326 on Build GRCh38	Loss	NKX6-2 CFAP46 INPP5A
nsv552526	Chr.10:132699017 - 133103793 on Build GRCh38	Gain	NKX6-2 CFAP46 ADGRA1 LINC01167 LINC01166 ADGRA1-AS1 INPP5A LINC01168
esv3625008	Chr.10:132820048 - 132833523 on Build GRCh38	Gain	CFAP46
nsv832032	Chr.10:132648722 - 132851966 on Build GRCh38	Loss	NKX6-2 CFAP46 INPP5A
nsv952700	Chr.10:132702797 - 132851596 on Build GRCh38	Deletion	NKX6-2 CFAP46 INPP5A

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

axoneme assembly
cilium movement involved in cell motility