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  • › Hs00568194_cn
See other C5ORF66 CNV Assays ›
Gene Symbol
C5orf66
Assay Reference Genome
Location

Chr.5:135033733 on build GRCh38
Cytoband
5q31.1
Assay ID Hs00568194_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:

100996485

Gene Name:

chromosome 5 open reading frame 66

Gene Aliases:

-

Location:

Chr.5:135033280-135344680 on Build GRCh38

Assay Gene Location:

Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
C5orf66 NM_001277348.1 NP_001264277.1
AK026965.1 BAB15606.1

Target Gene Details

Entrez Gene ID:

5307

Gene Name:

paired like homeodomain 1

Gene Aliases:

BFT, CCF, LBNBG, POTX, PTX1

Location:

Chr.5:135027734-135034274 on Build GRCh38

Assay Gene Location:

Overlaps Intron 1 - Exon 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PITX1 NM_002653.4 NP_002644.4
AK290635.1
AL578756.2
BC003685.1 AAH03685.1
BC009412.1 AAH09412.1
BX362641.2
KJ534918.1
U70370.1 AAC51126.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
nsv823239 Chr.5:135019535 - 135071110 on Build GRCh38 Gain PITX1 C5orf66-AS1 C5orf66
nsv830495 Chr.5:135024595 - 135204207 on Build GRCh38 Loss PITX1 C5orf66-AS1 C5orf66
nsv823240 Chr.5:135020631 - 135043367 on Build GRCh38 Gain PITX1 C5orf66-AS1 C5orf66
nsv1073498 Chr.5:135033709 - 135034610 on Build GRCh38 Deletion PITX1 C5orf66
dgv969n67 Chr.5:135018061 - 135059172 on Build GRCh38 Gain PITX1 C5orf66-AS1 C5orf66
nsv599744 Chr.5:135012266 - 135070292 on Build GRCh38 Loss PITX1 C5orf66-AS1 C5orf66

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More Information


Set Membership:

Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

homeodomain transcription factor

Gene Ontology Categories:

Function(s) Process(es)

skeletal system development
transcription from RNA polymerase II promoter
anatomical structure morphogenesis
branchiomeric skeletal muscle development
pituitary gland development
embryonic hindlimb morphogenesis
negative regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
myoblast fate commitment
cartilage development
RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
RNA polymerase II transcription factor binding
transcriptional activator activity, RNA polymerase II transcription factor binding
protein binding

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