Hs00113278_cn

• Gene Symbol: FANCA
• Assay Reference Genome Location: Chr.16:89742839 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: Within Exon 39

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FANCA	NM_000135.2	37	3768	NP_000126.2
	NM_001286167.1	37	3768	NP_001273096.1
	XM_005256294.4	37	3769	XP_005256351.1
	XM_011522945.2	36	3640	XP_011521247.1
	XM_011522946.2	37	3776	XP_011521248.1
	XM_011522947.2	31	3687	XP_011521249.1
	XM_017023044.1	36	3640	XP_016878533.1
	AK299282.1	37	3757
	AK301168.1	9	969
	X99226.1	37	3757	CAA67610.1

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	VPS9D1 ZNF276 FANCA VPS9D1-AS1
nsv457624	Chr.16:89738447 - 89915950 on Build GRCh38	Loss	ZNF276 LOC105371419 SPIRE2 FANCA TCF25 LOC107984817
nsv952079	Chr.16:89685593 - 89749492 on Build GRCh38	Deletion	VPS9D1 ZNF276 CDK10 SPATA2L FANCA VPS9D1-AS1
esv2762221	Chr.16:89610380 - 90039318 on Build GRCh38	Gain+Loss	VPS9D1 ZNF276 SPIRE2 MC1R CHMP1A TUBB3 CDK10 SPATA2L FANCA SPATA33 VPS9D1-AS1 DBNDD1 LOC107984817 AFG3L1P CENPBD1 LOC105371419 GAS8-AS1 GAS8 DEF8 TCF25 DPEP1
nsv457623	Chr.16:89664419 - 89853617 on Build GRCh38	Gain	VPS9D1 ZNF276 LOC105371419 SPIRE2 CDK10 SPATA2L FANCA SPATA33 VPS9D1-AS1 LOC107984817
nsv428331	Chr.16:89216635 - 90185980 on Build GRCh38	Gain+Loss	TUBB8P7 ZNF276 ANKRD11 SPATA2L LOC100287036 FANCA SNORD68 VPS9D1-AS1 DBNDD1 LOC107984817 CENPBD1 LOC101927817 LOC105371419 SPG7 GAS8 ZNF778 DPEP1 VPS9D1 URAHP RPL13 SPIRE2 MC1R CHMP1A TUBB3 CDK10 SPATA33 CPNE7 AFG3L1P LOC105371414 FAM157C GAS8-AS1 PRDM7 DEF8 TCF25
nsv833331	Chr.16:89726091 - 89849806 on Build GRCh38	Gain+Loss	ZNF276 LOC105371419 SPIRE2 FANCA LOC107984817
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	ANKRD11 LOC400558 SPATA2L LOC100287036 FANCA LOC105371409 SNAI3-AS1 SNORD68 CDT1 MVD CENPBD1 LOC101927817 LOC105371419 IL17C LOC101927793 ZNF778 VPS9D1 LOC100129697 URAHP MIR4722 MC1R CDK10 LOC107987238 SNAI3 CDH15 RNF166 CBFA2T3 TCF25 GALNS TUBB8P7 ACSF3 ZNF276 SLC22A31 VPS9D1-AS1 DBNDD1 LOC107984817 SPG7 GAS8 DPEP1 TRAPPC2L RPL13 SPIRE2 CHMP1A TUBB3 PIEZO1 SPATA33 CPNE7 PABPN1L CTU2 AFG3L1P LOC339059 LOC100289580 LOC105371414 LINC00304 FAM157C GAS8-AS1 APRT CYBA PRDM7 DEF8
nsv509639	Chr.16:89513538 - 89775915 on Build GRCh38	Insertion	VPS9D1 ZNF276 RPL13 CHMP1A CDK10 SPATA2L FANCA SPATA33 CPNE7 SNORD68 VPS9D1-AS1 SPG7 DPEP1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

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

Function(s)

protein binding