Hs00037400_cn

• Gene Symbol: FANCA
• Assay Reference Genome Location: Chr.16:89740112 on build GRCh38
• Cytoband: 16q24.3

Target Gene Details

• Entrez Gene ID: 2175
• Gene Name: Fanconi anemia complementation group A
• Gene Aliases: FA, FA-H, FA1, FAA, FACA, FAH, FANCH
• Location: Chr.16:89737551-89816658 on Build GRCh38
• Assay Gene Location: Overlaps Intron 40 - Exon 41

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FANCA	NM_000135.2			NP_000126.2
	NM_001286167.1			NP_001273096.1
	XM_005256294.4			XP_005256351.1
	XM_011522945.2			XP_011521247.1
	XM_011522946.2			XP_011521248.1
	XM_011522947.2			XP_011521249.1
	XM_017023044.1			XP_016878533.1
	AK299282.1
	AK301168.1
	X99226.1			CAA67610.1

Target Gene Details

• Entrez Gene ID: 92822
• Gene Name: zinc finger protein 276
• Gene Aliases: CENP-Z, CENPZ, ZADT, ZFP276, ZNF477
• Location: Chr.16:89720368-89740925 on Build GRCh38
• Assay Gene Location: Within Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ZNF276	NM_001113525.1	11	3808	NP_001106997.1
	NM_152287.3	11	3798	NP_689500.2
	AK096004.1	1	1570
	BQ432535.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1931	Chr.16:89713649 - 89746701 on Build GRCh38	Insertion	ZNF276 VPS9D1-AS1 VPS9D1 FANCA
nsv573744	Chr.16:89738447 - 89915950 on Build GRCh38	Loss	LOC107984817 TCF25 LOC105371419 ZNF276 SPIRE2 FANCA
nsv952079	Chr.16:89685593 - 89749492 on Build GRCh38	Deletion	SPATA2L CDK10 ZNF276 VPS9D1-AS1 VPS9D1 FANCA
nsv573743	Chr.16:89664419 - 89853617 on Build GRCh38	Gain	LOC107984817 SPATA2L LOC105371419 CDK10 ZNF276 SPIRE2 VPS9D1-AS1 VPS9D1 SPATA33 FANCA
esv2762221	Chr.16:89610380 - 90039318 on Build GRCh38	Gain+Loss	LOC107984817 SPATA2L TUBB3 LOC105371419 DPEP1 GAS8-AS1 SPATA33 MC1R CENPBD1 DEF8 TCF25 GAS8 DBNDD1 CDK10 AFG3L1P CHMP1A ZNF276 SPIRE2 VPS9D1-AS1 VPS9D1 FANCA
nsv428331	Chr.16:89216635 - 90185980 on Build GRCh38	Gain+Loss	LOC107984817 ANKRD11 TUBB3 LOC105371419 GAS8-AS1 ZNF778 DEF8 TCF25 CDK10 AFG3L1P SPIRE2 PRDM7 VPS9D1 SPATA2L TUBB8P7 DPEP1 SPG7 LOC101927817 URAHP SNORD68 SPATA33 MC1R CENPBD1 CPNE7 GAS8 FAM157C LOC105371414 DBNDD1 CHMP1A ZNF276 RPL13 VPS9D1-AS1 LOC100287036 FANCA
nsv833331	Chr.16:89726091 - 89849806 on Build GRCh38	Gain+Loss	LOC107984817 LOC105371419 ZNF276 SPIRE2 FANCA
nsv833330	Chr.16:89678466 - 89741783 on Build GRCh38	Loss	SPATA2L CDK10 ZNF276 VPS9D1-AS1 VPS9D1 FANCA
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	LOC107984817 ANKRD11 LOC100289580 RNF166 PIEZO1 ZNF778 LOC107987238 APRT MIR4722 CDK10 SPIRE2 TRAPPC2L DPEP1 CBFA2T3 LOC339059 SNORD68 SPATA33 MC1R GAS8 FAM157C CHMP1A ZNF276 RPL13 VPS9D1-AS1 IL17C LOC100287036 FANCA TUBB3 LOC101927793 LOC105371419 GAS8-AS1 CDT1 CYBA SNAI3-AS1 DEF8 TCF25 MVD PABPN1L AFG3L1P SLC22A31 LINC00304 PRDM7 VPS9D1 SPATA2L TUBB8P7 LOC105371409 CDH15 LOC400558 ACSF3 SPG7 LOC101927817 URAHP CENPBD1 CPNE7 SNAI3 GALNS LOC100129697 CTU2 LOC105371414 DBNDD1
nsv509639	Chr.16:89513538 - 89775915 on Build GRCh38	Insertion	SPATA2L DPEP1 SPG7 SNORD68 SPATA33 CPNE7 CDK10 CHMP1A ZNF276 RPL13 VPS9D1-AS1 VPS9D1 FANCA

More Information

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

Panther Classification:

Molecular Function -

C2H2 zinc finger transcription factor

Gene Ontology Categories:

Process(es)

DNA repair
protein complex assembly
male meiosis
male gonad development
female gonad development
interstrand cross-link repair
regulation of cell proliferation
transcription, DNA-templated
regulation of transcription, DNA-templated

Function(s)

protein binding
DNA binding
zinc ion binding