Assay Details
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: | Within Intron 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 | LINC01167 LINC01166 LINC01168 CFAP46 |
dgv995n100 | Chr.10:132825790 - 133019278 on Build GRCh38 | Gain | LINC01167 LINC01166 LINC01168 CFAP46 |
nsv832033 | Chr.10:132743736 - 132870955 on Build GRCh38 | Loss | INPP5A NKX6-2 CFAP46 |
nsv1054934 | Chr.10:130334322 - 133158679 on Build GRCh38 | Gain | LOC105378568 LINC01167 BNIP3 MIR378C LINC01168 LINC01164 TCERG1L INPP5A PWWP2B DPYSL4 LOC107984282 LINC01166 TCERG1L-AS1 PPP2R2D ADGRA1 NKX6-2 C10orf91 LRRC27 CFAP46 ADGRA1-AS1 STK32C JAKMIP3 |
nsv832034 | Chr.10:132761541 - 132940326 on Build GRCh38 | Loss | INPP5A NKX6-2 CFAP46 |
nsv509378 | Chr.10:132737773 - 132833305 on Build GRCh38 | Insertion | INPP5A NKX6-2 CFAP46 |
nsv552526 | Chr.10:132699017 - 133103793 on Build GRCh38 | Gain | LINC01167 LINC01166 LINC01168 ADGRA1 INPP5A NKX6-2 CFAP46 ADGRA1-AS1 |
esv3625008 | Chr.10:132820048 - 132833523 on Build GRCh38 | Gain | CFAP46 |
nsv832032 | Chr.10:132648722 - 132851966 on Build GRCh38 | Loss | INPP5A NKX6-2 CFAP46 |
nsv952700 | Chr.10:132702797 - 132851596 on Build GRCh38 | Deletion | INPP5A NKX6-2 CFAP46 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |