Hs00229189_cn

• Gene Symbol: CHURC1-FNTB
• Assay Reference Genome Location: Chr.14:65027614 on build GRCh38
• Cytoband: 14q23.3

Target Gene Details

• Entrez Gene ID: 100529261
• Gene Name: CHURC1-FNTB readthrough
• Gene Aliases: -
• Location: Chr.14:64914361-65062655 on Build GRCh38
• Assay Gene Location: Overlaps Exon 7 - Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHURC1-FNTB	NM_001202558.1			NP_001189487.1
	NM_001202559.1			NP_001189488.1
	AK296850.1
	AK303739.1

Target Gene Details

• Entrez Gene ID: 2342
• Gene Name: farnesyltransferase, CAAX box, beta
• Gene Aliases: FPTB
• Location: Chr.14:64986789-65062652 on Build GRCh38
• Assay Gene Location: Overlaps Exon 5 - Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FNTB	NM_002028.3			NP_002019.1
	AK093298.1
	AK225917.1
	AK295972.1
	AK315714.1
	AU122768.1
	BC020232.1			AAH20232.1
	BX248269.1			CAD62597.1
	L00635.1			AAA35854.1
	L10414.1			AAA86286.1

Target Gene Details

• Entrez Gene ID: 4149
• Gene Name: MYC associated factor X
• Gene Aliases: bHLHd4
• Location: Chr.14:65006101-65102695 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MAX	NM_001271069.1			NP_001257998.1
	NM_197957.3			NP_932061.1
	AI652319.1
	AI655674.1
	AI917842.1
	DB482510.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv832816	Chr.14:65006526 - 65177927 on Build GRCh38	Gain	CHURC1-FNTB LOC100506321 MAX FNTB MIR4706
esv2748779	Chr.14:63663324 - 66595809 on Build GRCh38	Deletion	LINC00238 CHURC1-FNTB CHURC1 ZBTB1 LOC102723809 PLEKHG3 PPP1R36 SYNE2 RAB15 HSPA2 MAX FNTB MIR4706 FUT8 SPTB MIR7855 MTHFD1 LOC100128233 ZBTB25 LOC100506321 FUT8-AS1 GPX2 MIR548H1 TEX21P ESR2 MIR4708 MIR625 SGPP1 AKAP5 GPHN

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

acyltransferase, basic helix-loop-helix transcription factor

Gene Ontology Categories:

Process(es)

negative regulation of cell proliferation
response to inorganic substance
response to organic cyclic compound
protein farnesylation
regulation of rhodopsin mediated signaling pathway
response to cytokine
wound healing
positive regulation of cell cycle
positive regulation of fibroblast proliferation
positive regulation of nitric-oxide synthase biosynthetic process
regulation of transcription from RNA polymerase II promoter
transcription from RNA polymerase II promoter
protein complex assembly
cellular response to starvation
negative regulation of gene expression
response to insulin
response to axon injury
neuron apoptotic process
retina development in camera-type eye
cellular response to peptide hormone stimulus

Function(s)

farnesyltranstransferase activity
protein farnesyltransferase activity
protein binding
drug binding
zinc ion binding
isoprenoid binding
peptide binding
RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcription factor activity, RNA polymerase II core promoter sequence-specific
transcription factor activity, sequence-specific DNA binding
transcription cofactor activity
transcription coactivator activity
protein complex binding
protein homodimerization activity
protein heterodimerization activity