Hs03468000_cn

• Gene Symbol: FHIT
• Assay Reference Genome Location: Chr.3:59761193 on build GRCh38
• Cytoband: 3p14.2

Target Gene Details

• Entrez Gene ID: 2272
• Gene Name: fragile histidine triad
• Gene Aliases: AP3Aase, FRA3B
• Location: Chr.3:59747278-61251474 on Build GRCh38
• Assay Gene Location: Within Intron 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FHIT	NM_001166243.2			NP_001159715.1
	NM_001320899.1			NP_001307828.1
	NM_001320900.1			NP_001307829.1
	NM_001320901.1			NP_001307830.1
	NM_002012.3			NP_002003.1
	NR_135491.1
	XM_017005880.1			XP_016861369.1
	XM_017005881.1			XP_016861370.1
	XM_017005882.1			XP_016861371.1
	XM_017005883.1			XP_016861372.1
	XM_017005884.1			XP_016861373.1
	XM_017005885.1			XP_016861374.1
	XM_017005886.1			XP_016861375.1
	AK127931.1
	AK289824.1
	BC032336.1			AAH32336.1
	DB131595.1
	DQ120721.1			AAZ23623.1
	KJ534835.1
	U46922.1			AAA99013.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv4749n100	Chr.3:58504269 - 60219035 on Build GRCh38	Gain	C3orf67 FAM3D-AS1 FAM107A ACOX2 LOC339902 FAM3D FHIT C3orf67-AS1
nsv1014601	Chr.3:59680883 - 59902440 on Build GRCh38	Loss	FHIT

More Information

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

Panther Classification:

Molecular Function -

phosphatase

Gene Ontology Categories:

Process(es)

purine nucleotide metabolic process
transcription, DNA-templated
regulation of transcription, DNA-templated
nucleotide metabolic process
negative regulation of proteasomal ubiquitin-dependent protein catabolic process
intrinsic apoptotic signaling pathway by p53 class mediator

Function(s)

nucleotide binding
catalytic activity
protein binding
hydrolase activity
ubiquitin protein ligase binding
identical protein binding
bis(5'-adenosyl)-triphosphatase activity