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

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