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See other HES5 CNV Assays ›
Gene Symbol
HES5
Assay Reference Genome
Location

Chr.1:2528849 on build GRCh38
Cytoband
1p36.32
Assay ID Hs02713003_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:

388585

Gene Name:

hes family bHLH transcription factor 5

Gene Aliases:

bHLHb38

Location:

Chr.1:2528745-2530554 on Build GRCh38

Assay Gene Location:

Within Exon 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
HES5 NM_001010926.3 3 1202 NP_001010926.1
XM_005244751.4 2 1607 XP_005244808.1
BC087840.1 1 1397 AAH87840.1
BX104111.1 1 398
DQ272660.1 3 1202 ABB83829.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
nsv951557 Chr.1:2266062 - 2564661 on Build GRCh38 Deletion MORN1 LOC100129534 TNFRSF14 PEX10 RER1 PLCH2 LOC115110 HES5 PANK4 SKI
nsv823920 Chr.1:2482305 - 2552402 on Build GRCh38 Gain PLCH2 LOC115110 HES5 PANK4
nsv818222 Chr.1:2492683 - 2553994 on Build GRCh38 Loss PLCH2 LOC115110 HES5 PANK4
nsv545080 Chr.1:2464013 - 2553994 on Build GRCh38 Loss PLCH2 LOC115110 HES5 PANK4
nsv545077 Chr.1:2428542 - 2622185 on Build GRCh38 Gain TNFRSF14 MMEL1 PLCH2 LOC115110 HES5 PANK4 FAM213B LOC100996583
nsv470684 Chr.1:2394570 - 2930923 on Build GRCh38 Loss TTC34 TNFRSF14 MMEL1 PEX10 RER1 PLCH2 LOC115110 HES5 PANK4 FAM213B LOC100996583
nsv824031 Chr.1:2520800 - 2551658 on Build GRCh38 Gain LOC115110 HES5 PANK4

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More Information


Set Membership:

Intragenic Exonic DGV Variation

Panther Classification:

Molecular Function -

basic helix-loop-helix transcription factor

Gene Ontology Categories:

Function(s) Process(es)

negative regulation of transcription from RNA polymerase II promoter
chondrocyte differentiation
transcription, DNA-templated
protein complex assembly
cell adhesion
Notch signaling pathway
smoothened signaling pathway
brain development
positive regulation of cell proliferation
oligodendrocyte development
telencephalon development
glial cell fate commitment
forebrain radial glial cell differentiation
neural tube development
central nervous system myelination
positive regulation of BMP signaling pathway
regulation of myelination
auditory receptor cell differentiation
positive regulation of tyrosine phosphorylation of Stat3 protein
auditory receptor cell fate determination
camera-type eye development
regulation of cell differentiation
regulation of auditory receptor cell differentiation
negative regulation of neuron differentiation
positive regulation of Notch signaling pathway
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
positive regulation of JAK-STAT cascade
cell maturation
positive regulation of smooth muscle cell proliferation
astrocyte differentiation
negative regulation of astrocyte differentiation
negative regulation of oligodendrocyte differentiation
regulation of epithelial cell proliferation
regulation of neurogenesis
cartilage development
inner ear receptor stereocilium organization
comma-shaped body morphogenesis
S-shaped body morphogenesis
specification of loop of Henle identity
metanephric nephron tubule morphogenesis
establishment of epithelial cell polarity
neuronal stem cell population maintenance
negative regulation of stem cell differentiation
negative regulation of pro-B cell differentiation
negative regulation of forebrain neuron differentiation
negative regulation of inner ear receptor cell differentiation
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
chromatin binding
double-stranded DNA binding
transcription factor binding
protein dimerization activity

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