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See other CFAP73 CNV Assays ›
Gene Symbol
CFAP73
Assay Reference Genome
Location

Chr.12:113157410 on build GRCh38
Cytoband
12q24.13
Assay ID Hs01783276_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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  • Genomic Map
  • Assay Details
  • More Information

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:

387885

Gene Name:

cilia and flagella associated protein 73

Gene Aliases:

CCDC42B, MIA2

Location:

Chr.12:113149162-113159276 on Build GRCh38

Assay Gene Location:

Within Intron 7
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
CFAP73 NM_001144872.1 NP_001138344.1

Target Gene Details

Entrez Gene ID:

79039

Gene Name:

DEAD-box helicase 54

Gene Aliases:

DP97

Location:

Chr.12:113157173-113185479 on Build GRCh38

Assay Gene Location:

Within Exon 20
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
DDX54 NM_001111322.1 20 4144 NP_001104792.1
NM_024072.3 20 4141 NP_076977.3
AF478457.1 20 4144 AAL85336.1
BC005848.2 20 4062 AAH05848.2

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
nsv519540 Chr.12:113042705 - 113459599 on Build GRCh38 Gain+Loss SDSL SLC8B1 SDS RASAL1 MIR7106 RITA1 CFAP73 DTX1 PLBD2 IQCD TPCN1 MIR6762 DDX54
dgv2884n54 Chr.12:113115603 - 113166364 on Build GRCh38 Loss RASAL1 MIR7106 CFAP73 DDX54
esv3892265 Chr.12:113099321 - 113527932 on Build GRCh38 Gain SDSL SLC8B1 SDS RASAL1 MIR7106 RITA1 CFAP73 PLBD2 IQCD TPCN1 MIR6762 DDX54 LHX5 LHX5-AS1
esv3630792 Chr.12:112988703 - 113838810 on Build GRCh38 Gain SDSL SLC8B1 SDS RASAL1 MIR7106 RITA1 CFAP73 DTX1 PLBD2 IQCD TPCN1 OAS2 MIR6762 LINC01234 DDX54 LHX5 RBM19 LHX5-AS1

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More Information


Set Membership:

Intragenic Exonic Intronic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)

transcription, DNA-templated
regulation of transcription, DNA-templated
RNA processing
RNA secondary structure unwinding
RNA metabolic process
intracellular estrogen receptor signaling pathway
negative regulation of nucleic acid-templated transcription
transcription corepressor activity
ATP-dependent RNA helicase activity
receptor binding
ATP binding
estrogen receptor binding
poly(A) RNA binding

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