Hs00867695_cn

• Gene Symbol: FANCI
• Assay Reference Genome Location: Chr.15:89316361 on build GRCh38
• Cytoband: 15q26.1

Target Gene Details

• Entrez Gene ID: 55215
• Gene Name: Fanconi anemia complementation group I
• Gene Aliases: KIAA1794
• Location: Chr.15:89243954-89317132 on Build GRCh38
• Assay Gene Location: Overlaps Intron 37 - Exon 38

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FANCI	NM_001113378.1			NP_001106849.1
	NM_018193.2			NP_060663.2
	XM_011521756.2			XP_011520058.1
	XM_011521757.2			XP_011520059.1
	XM_011521764.2			XP_011520066.1
	XM_011521767.2			XP_011520069.1
	AB058697.1			BAB47423.1
	AK001581.1			BAA91770.1
	AK027564.1			BAB55200.1
	AK055176.1
	BC140769.1
	BC144483.1
	CN365698.1
	EF469766.1
	EF567077.1

Target Gene Details

• Entrez Gene ID: 5428
• Gene Name: DNA polymerase gamma, catalytic subunit
• Gene Aliases: MDP1, MIRAS, MTDPS4A, MTDPS4B, PEO, POLG1, POLGA, SANDO, SCAE
• Location: Chr.15:89316305-89334795 on Build GRCh38
• Assay Gene Location: Within Exon 23

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
POLG	NM_001126131.1	23	4380	NP_001119603.1
	NM_002693.2	23	4392	NP_002684.1
	AK130624.1	6	1266
	AW015913.1	1	73
	BC042571.1	23	4377	AAH42571.1
	BC050559.1	23	4361	AAH50559.1
	D84103.1	22	4216	BAA12223.1
	U60325.1	22	4269	AAC50712.1
	X98093.1	23	4392	CAA66719.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1038140	Chr.15:89141274 - 89620108 on Build GRCh38	Gain	LOC105371031 LINC00928 RHCG MIR6766 LOC105370962 TICRR RLBP1 FANCI MIR9-3HG POLG ABHD2 MIR9-3
nsv833086	Chr.15:89275748 - 89437378 on Build GRCh38	Loss	LOC105371031 MIR6766 LOC105370962 FANCI MIR9-3HG POLG MIR9-3

More Information

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

Panther Classification:

Molecular Function -

DNA metabolism protein, DNA-directed DNA polymerase, nucleic acid metabolism protein

Gene Ontology Categories:

Process(es)

mitotic G2 DNA damage checkpoint
positive regulation of protein ubiquitination
interstrand cross-link repair
DNA metabolic process
DNA-dependent DNA replication
mitochondrial DNA replication
base-excision repair, gap-filling
aging
response to light stimulus
response to gamma radiation
response to hyperoxia
cellular response to glucose stimulus
DNA biosynthetic process
nucleic acid phosphodiester bond hydrolysis

Function(s)

DNA binding
protein binding
DNA polymerase binding
protease binding
chromatin binding
DNA-directed DNA polymerase activity
3'-5' exonuclease activity