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 Exon 58 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CFAP46 | NM_001200049.2 | 58 | 8201 | NP_001186978.2 |
AK128150.1 | 1 | 2812 | ||
AL122111.1 | 15 | 1702 | CAB59272.3 | |
BC034223.1 | 20 | 2669 | AAH34223.1 | |
CA310952.1 | 1 | 95 |
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 LINC01168 LINC01166 |
esv3577894 | Chr.10:132744696 - 132825790 on Build GRCh38 | Gain | CFAP46 NKX6-2 INPP5A |
nsv832033 | Chr.10:132743736 - 132870955 on Build GRCh38 | Loss | CFAP46 NKX6-2 INPP5A |
nsv1054934 | Chr.10:130334322 - 133158679 on Build GRCh38 | Gain | LOC105378568 MIR378C ADGRA1-AS1 JAKMIP3 DPYSL4 LINC01167 LINC01168 PWWP2B C10orf91 ADGRA1 TCERG1L LINC01164 BNIP3 CFAP46 LRRC27 NKX6-2 TCERG1L-AS1 PPP2R2D STK32C INPP5A LOC107984282 LINC01166 |
nsv832034 | Chr.10:132761541 - 132940326 on Build GRCh38 | Loss | CFAP46 NKX6-2 INPP5A |
nsv509378 | Chr.10:132737773 - 132833305 on Build GRCh38 | Insertion | CFAP46 NKX6-2 INPP5A |
nsv552526 | Chr.10:132699017 - 133103793 on Build GRCh38 | Gain | ADGRA1-AS1 CFAP46 LINC01167 LINC01168 NKX6-2 ADGRA1 INPP5A LINC01166 |
nsv470977 | Chr.10:132699016 - 132814378 on Build GRCh38 | Loss | CFAP46 NKX6-2 INPP5A |
nsv832032 | Chr.10:132648722 - 132851966 on Build GRCh38 | Loss | CFAP46 NKX6-2 INPP5A |
nsv952700 | Chr.10:132702797 - 132851596 on Build GRCh38 | Deletion | CFAP46 NKX6-2 INPP5A |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |