FANCA

Summary

FANCA (FA complementation group A, HGNC:3582) is a protein-coding gene on chromosome 16q24.3, encoding Fanconi anemia group A protein (O15360). DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. It is a selective cancer dependency (DepMap: 14.2% of cell lines).

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia.

Source: NCBI Gene 2175 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Fanconi anemia complementation group A (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 26
• Clinical variants (ClinVar): 6,779 total — 746 pathogenic, 324 likely-pathogenic
• Phenotypes (HPO): 130
• Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types
• Cancer dependency (DepMap): dependent in 14.2% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_000135

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3582
Approved symbol	FANCA
Name	FA complementation group A
Location	16q24.3
Locus type	gene with protein product
Status	Approved
Aliases	FAA, FA-H, FAH
Ensembl gene	ENSG00000187741
Ensembl biotype	protein_coding
OMIM	607139
Entrez	2175

Gene structure

Transcript identifiers

Ensembl transcripts: 47 — 21 nonsense_mediated_decay, 15 protein_coding, 9 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000305699, ENST00000389301, ENST00000389302, ENST00000534992, ENST00000543736, ENST00000561660, ENST00000561667, ENST00000561722, ENST00000562424, ENST00000563318, ENST00000563510, ENST00000563513, ENST00000563673, ENST00000563767, ENST00000564475, ENST00000564870, ENST00000564969, ENST00000565582, ENST00000566133, ENST00000566409, ENST00000566889, ENST00000567205, ENST00000567284, ENST00000567510, ENST00000567621, ENST00000567879, ENST00000567883, ENST00000567943, ENST00000567988, ENST00000568369, ENST00000568626, ENST00000568983, ENST00000696274, ENST00000696275, ENST00000696276, ENST00000696277, ENST00000696286, ENST00000696287, ENST00000696288, ENST00000696291, ENST00000696292, ENST00000696293, ENST00000696294, ENST00000696295, ENST00000696296, ENST00000916500, ENST00000950570

RefSeq mRNA: 4 — MANE Select: NM_000135 NM_000135, NM_001018112, NM_001286167, NM_001351830

CCDS: CCDS32515, CCDS42221, CCDS67099, CCDS86554

Canonical transcript exons

ENST00000389301 — 43 exons

Exon	Start	End
ENSE00002216263	89737549	89738708
ENSE00002280260	89764890	89765066
ENSE00002282541	89769837	89770024
ENSE00002292950	89767141	89767237
ENSE00002294495	89770166	89770259
ENSE00003462432	89761949	89762022
ENSE00003477873	89771678	89771814
ENSE00003509400	89742800	89742938
ENSE00003522230	89744959	89745071
ENSE00003533385	89746584	89746688
ENSE00003542650	89773271	89773384
ENSE00003558581	89746831	89746890
ENSE00003587473	89740804	89740866
ENSE00003596205	89770564	89770634
ENSE00003599474	89749730	89749902
ENSE00003638634	89748659	89748767
ENSE00003653743	89739994	89740099
ENSE00003653763	89758577	89758705
ENSE00003655613	89752138	89752222
ENSE00003661791	89775742	89775815
ENSE00003666863	89739478	89739553
ENSE00003672662	89738882	89738974
ENSE00003690783	89739133	89739289
ENSE00003850983	89816537	89816647
ENSE00003966718	89815877	89815986
ENSE00003966732	89784854	89784964
ENSE00003966734	89779869	89779957
ENSE00003966736	89814520	89814613
ENSE00003966737	89791403	89791536
ENSE00003966740	89791927	89792068
ENSE00003966741	89803259	89803341
ENSE00003966742	89778943	89779003
ENSE00003966747	89808294	89808367
ENSE00003966749	89783007	89783102
ENSE00003966750	89810929	89811071
ENSE00003966751	89778801	89778850
ENSE00003966752	89805280	89805392
ENSE00003966754	89799605	89799638
ENSE00003966755	89799166	89799232
ENSE00003966756	89795906	89796018
ENSE00003966758	89810707	89810802
ENSE00003966767	89792471	89792547
ENSE00003966769	89782859	89782918

Expression profiles

Bgee: expression breadth ubiquitous, 185 present calls, max score 94.31.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.5151 / max 221.1369, expressed in 1564 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
158657	15.5213	1446
158655	0.8047	256
158654	0.1891	95

Top tissues by expression

280 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	94.31	gold quality
ventricular zone	UBERON:0003053	94.11	gold quality
left testis	UBERON:0004533	93.77	gold quality
ganglionic eminence	UBERON:0004023	91.83	gold quality
testis	UBERON:0000473	90.84	gold quality
mucosa of transverse colon	UBERON:0004991	89.79	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.36	gold quality
granulocyte	CL:0000094	88.18	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.51	gold quality
monocyte	CL:0000576	87.43	gold quality
mononuclear cell	CL:0000842	87.05	gold quality
leukocyte	CL:0000738	86.97	gold quality
bone marrow cell	CL:0002092	86.68	gold quality
colonic epithelium	UBERON:0000397	85.93	gold quality
lower esophagus mucosa	UBERON:0035834	85.45	gold quality
lymph node	UBERON:0000029	85.18	gold quality
vermiform appendix	UBERON:0001154	84.32	gold quality
stromal cell of endometrium	CL:0002255	84.21	gold quality
cortical plate	UBERON:0005343	84.20	gold quality
rectum	UBERON:0001052	83.74	gold quality
blood	UBERON:0000178	83.61	gold quality
right lobe of liver	UBERON:0001114	82.63	gold quality
spleen	UBERON:0002106	82.14	gold quality
sural nerve	UBERON:0015488	81.60	gold quality
embryo	UBERON:0000922	81.35	gold quality
right hemisphere of cerebellum	UBERON:0014890	81.26	gold quality
esophagus mucosa	UBERON:0002469	81.18	gold quality
cerebellar hemisphere	UBERON:0002245	81.12	gold quality
caecum	UBERON:0001153	81.09	gold quality
cerebellar cortex	UBERON:0002129	81.01	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-ENAD-27	yes	113.31
E-MTAB-6678	yes	7.88
E-ANND-3	yes	5.74
E-MTAB-4850	no	354.50

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1

miRNA regulators (miRDB)

36 targeting FANCA, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-23A-5P	99.94	65.39	468
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-4679	99.76	69.19	1229
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-2054	99.20	68.89	1699
HSA-MIR-422A	99.18	65.83	550
HSA-MIR-4716-5P	98.82	68.57	1168
HSA-MIR-7977	98.65	66.18	2590
HSA-MIR-378A-3P	98.43	66.10	548
HSA-MIR-378B	98.43	65.36	573
HSA-MIR-378C	98.43	66.10	548
HSA-MIR-378D	98.43	66.10	548
HSA-MIR-378E	98.43	65.99	551
HSA-MIR-378F	98.43	65.66	554
HSA-MIR-378H	98.43	66.16	545
HSA-MIR-378I	98.43	66.10	548
HSA-MIR-6516-5P	98.42	70.19	1551
HSA-MIR-7843-3P	98.31	67.94	803
HSA-MIR-4286	97.20	64.37	1587

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 14.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• used to subtype Fanconi anemia T cells (PMID:12031647)
• FANCA may function to recruit IKK2, thus providing the cell a means of rapidly responding to stress. (PMID:12210728)
• Mutant FANCA proteins complement the sensitivity of DNA crosslinker mitomycin C at different grades: five proteins (group I) behave like wild-type FANCA, whereas the other proteins are either mildly (group II, n=4) or severely (group III, n=12) impaired. (PMID:12444097)
• Leukemic cells bearing both characteristic complex cytogenetic defects and marked decrease in nuclear FANCA, were analyzed for possible role of RANCA in cytogenetic instability and clonal progression to AML. (PMID:12637330)
• Deletion and reduced expression of the Fanconi anemia FANCA gene is associated with sporadic acute myeloid leukemia (PMID:14749703)
• 2 unique Fanconi-anemia-causing mutations were found: FANCA gross deletion of exons 6-31 & FANCA splice-site mutation IVS 42-2A>C. The gross deletion had recombination between 2 highly homologous Alu elements. The splice mutation had intron 42 retention. (PMID:15059067)
• FANCA and FANCG uniquely respond to oxidative damage by forming complexes via intermolecular disulfide linkages (PMID:15138265)
• FA proteins function at the level of chromatin during S phase to regulate and maintain genomic stability. (PMID:15256425)
• determination of whether FANCA gene mutations predispose to the development of familial pancreatic cancer (PMID:15591268)
• can be actively exported out of the nucleus by CRM1 (PMID:15790592)
• the FANCA allele with the tandem duplication does not appear to modify breast cancer risk but may act as a low penetrance protective allele for ovarian cancer (PMID:15860134)
• FANCA functions as a GnRH-induced signal transducer. (PMID:16946016)
• Results describe upregulated ATM gene expression and activated DNA crosslink-induced damage response checkpoints in Fanconi anemia with FANCA mutations, and the implications for carcinogenesis. (PMID:18224251)
• FANCA proteins are defective in Fanconi anemia patients. The disease-associated FANCA mutant was defective in binding to FANCG. (PMID:18457264)
• FANCA deficiencies may contribute to the high risk of FA patients for developing HPV-associated squamous cell carcinoma. (PMID:19015634)
• Phosphorylation of FANCA on serine 1449 is a DNA damage-specific event that is downstream of ATR and is functionally important in Fanconi anemia (PMID:19109555)
• Fanca-/- hematopoietic stem cells have a mobilization defect which can be overcome by administration of the Rac inhibitor NSC23766 (PMID:19491337)
• Thirteen genetic subtypes have been described (A, B, C, D1, D2, E, F, G, I, J, L, M, and N), of which FANCA, FANCC, and FANCG are the three most common disease-causing genes (PMID:20425471)
• Cytoplasmic FANCA-FANCC complex was essential for NPMc stability. (PMID:20864535)
• FANCA deletions might contribute to breast cancer susceptibility, potentially in combination with other germline mutations (PMID:21236561)
• All missense mutations studied lead to an altered FANCA protein that is unable to relocate to the nucleus and activate the FA/BRCA pathway. (PMID:21273304)
• the nucleic acid-binding domain of FANCA is located primarily at its C terminus, where most disease-causing mutations are found. (PMID:22194614)
• Sequence variants in FANCA could therefore be potential spoilers of the Fanconi-BRCA pathway and as a result, they could in turn have an impact in non-BRCA1/2 breast cancer families. (PMID:23021409)
• FANCA and FANCG are the major Fanconi anemia genes in the Korean population. (PMID:23067021)
• A total of 13/166 patients were diagnosed with FA and 8/13 belonged to the FA-A subtype. A novel point mutation was identified in exon 26 of FANCA gene. (PMID:23898106)
• Results suggest that the nonsynonymous single nucleotide polymorphism (rs2239359) in the FANCA gene or other causal variations coexisting with the GGGAGG haplotype may increase risk of premature ovarian failure in Korean women. (PMID:24045675)
• Data indicate that TLR-induced IL-1beta overproduction in FANCA- and FANCC-deficient mononuclear phagocyte cell lines and primary cells requires activation of the inflammasome. (PMID:24046015)
• Human Fanconi anemia complementation group a protein stimulates the 5’ flap endonuclease activity of FEN1. (PMID:24349332)
• c.190-256_283 + 1680del2040 dupC mutation in the FANCA gene is a founder mutation in Macedonian Fanconi anemia patients of Gypsy-like ethnic origin. (PMID:24356203)
• miR-503 gene is methylated in non-small cell lung cancer cells. miR-503 targets a homologous DNA region in the 3’-UTR region of the Fanconi anemia complementation group A protein (FANCA) gene and represses its expression at the transcriptional level. (PMID:24486548)
• Identified two unpredictable splicing mutations that act on either sides of FANCA exon 8. (PMID:24704046)
• FANCA-modulated neddylation pathway involved in CXCR5 membrane targeting and cell mobility. (PMID:25015289)
• Proliferation is compromised in FANCA-deficient pluripotent embryonic stem cells. (PMID:25108529)
• BRCA2 rs10492396 (AG vs. GG: adjusted hazard ratio (adjHR)=1.85, 95% confidence interval (CI)=1.16-2.95, P=0.010), rs206118 (CC vs. TT+TC: adjHR=2.44, 95% CI=1.27-4.67, P=0.007), rs3752447 and FANCA rs62068372 (PMID:25243787)
• The I939S point mutation prevented binding to the FAAP20 subunit of the FA core complex, caused SUMOylation at K921, RNF4-mediated polyubiquitination and degradation. (PMID:25751062)
• A frameshifting mutation and a truncating mutation of FANCA are associated with Fanconi anemia. (PMID:25863087)
• FANCA safeguards interphase and mitosis during hematopoiesis (PMID:26366677)
• Using human and murine cells defective in FANCD2 or FANCA and primary bone marrow cells derived from FANCD2 deficient mice, we show that the FA pathway removes R loops and that many DNA breaks accumulated in FA cells are R loop-dependent. (PMID:26584049)
• Results identified homozygous mutations in FANCA and FANCP/SLX4 genes, both located on chromosome 16, were the affected recessive FA genes in three and one family respectively. Genotyping with short tandem repeat markers and SNP arrays revealed uniparental disomy of the entire mutation-carrying chromosome 16 in all four patients. (PMID:26841305)
• High resolution melting curve analysis was used to screen FANCA, and LinReg software version 1.7 was utilized for analysis of expression. RESULTS: In total, six sequence alterations were identified, which included two stop codons, two frames-shift mutations, one large deletion and one amino acid exchange. FANCA expression was downregulated in patients who had sequence alterations. (PMID:27121516)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
		ENSDARG00000098241
danio_rerio		ENSDARG00000110103
mus_musculus	Fanca	ENSMUSG00000032815
rattus_norvegicus	Fanca	ENSRNOG00000016706

Protein

Protein identifiers

Fanconi anemia group A protein — O15360 (reviewed: O15360)

All UniProt accessions (31): A0A8Q3SID5, A0A8Q3SIN0, A0A8Q3SJ96, A0A8Q3WL44, A0A8Q3WL48, A0A8Q3WL53, A0A8Q3WL54, A0A8Q3WL60, A0A8Q3WL82, A0A8Q3WLP8, A0A8Q3WM51, O15360, F5H8D5, H3BM41, H3BNS0, H3BQU1, H3BQU6, H3BQW7, H3BQX1, H3BRX3, H3BS03, H3BS84, H3BSA3, H3BSI9, H3BSL6, H3BT32, H3BT40, H3BT53, H3BUI1, H3BV66, Q0VAP4

UniProt curated annotations — full annotation on UniProt →

Function. DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability.

Subunit / interactions. Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. In complex with FANCF, FANCG and FANCL, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins. The complex with FANCC and FANCG may also include EIF2AK2 and HSP70. Interacts with FAAP20/C1orf86; interaction is direct.

Subcellular location. Nucleus. Cytoplasm.

Post-translational modifications. Phosphorylation is required for the formation of the nuclear complex. Not phosphorylated in cells derived from groups A, B, C, E, F, G, and H.

Disease relevance. Fanconi anemia, complementation group A (FANCA) [MIM:227650] A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (3)

UniProt ID	Names	Canonical?
O15360-1	1	yes
O15360-2	2
O15360-3	3

RefSeq proteins (4): NP_000126, NP_001018122, NP_001273096, NP_001338759 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003516	FANCA	Family
IPR031729	Fanconi_A_N	Domain
IPR055277	Fanconi_A_C	Domain
IPR055386	FANCA_helical	Domain
IPR055387	FANCA_arcN	Domain

Pfam: PF03511, PF15865, PF24781, PF24783

UniProt features (54 total): sequence variant 49, splice variant 2, chain 1, short sequence motif 1, modified residue 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
7KZP	ELECTRON MICROSCOPY	3.1
7KZS	ELECTRON MICROSCOPY	4.2
7KZT	ELECTRON MICROSCOPY	4.2
7KZV	ELECTRON MICROSCOPY	4.2
7KZQ	ELECTRON MICROSCOPY	4.3
7KZR	ELECTRON MICROSCOPY	4.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O15360-F1	75.35	0.08

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 1449

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6783310	Fanconi Anemia Pathway
R-HSA-9833482	PKR-mediated signaling

MSigDB gene sets: 800 (showing top): PID_FANCONI_PATHWAY, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, MULLIGHAN_NPM1_SIGNATURE_3_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GNF2_GSTM1, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GNF2_HPN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_GLUTAMINE_FAMILY_AMINO_ACID_METABOLIC_PROCESS, GOBP_MALE_GAMETE_GENERATION

GO Biological Process (11): DNA repair (GO:0006281), male meiotic nuclear division (GO:0007140), male gonad development (GO:0008584), female gonad development (GO:0008585), interstrand cross-link repair (GO:0036297), regulation of regulatory T cell differentiation (GO:0045589), regulation of inflammatory response (GO:0050727), protein-containing complex assembly (GO:0065003), regulation of germ cell proliferation (GO:1905936), regulation of CD40 signaling pathway (GO:2000348), DNA damage response (GO:0006974)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (6): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), Fanconi anaemia nuclear complex (GO:0043240)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
DNA Repair	1
Antimicrobial mechanism of IFN-stimulated genes	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
gonad development	2
DNA metabolic process	1
DNA damage response	1
male gamete generation	1
meiotic cell cycle	1
meiotic nuclear division	1
development of primary male sexual characteristics	1
development of primary female sexual characteristics	1
DNA repair	1
regulatory T cell differentiation	1
regulation of T cell differentiation	1
inflammatory response	1
regulation of defense response	1
regulation of response to external stimulus	1
cellular component assembly	1
protein-containing complex organization	1
germ cell proliferation	1
regulation of cell population proliferation	1
regulation of multicellular organismal process	1
regulation of signal transduction	1
CD40 signaling pathway	1
cellular response to stress	1
binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
nuclear protein-containing complex	1

Protein interactions and networks

STRING

2369 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FANCA	FANCE	Q9HB96	999
FANCA	FANCM	Q8IYD8	999
FANCA	FANCC	Q00597	999
FANCA	FANCF	Q9NPI8	999
FANCA	FANCG	O15287	999
FANCA	FANCB	Q8NB91	999
FANCA	FANCL	Q9NW38	999
FANCA	FAAP100	Q0VG06	998
FANCA	FAAP24	Q9BTP7	997
FANCA	F6S8H2	F6S8H2	994
FANCA	FANCD2	Q9BXW9	987
FANCA	BRCA1	P38398	978
FANCA	FANCI	Q9NVI1	974
FANCA	CENPS	Q8N2Z9	970
FANCA	CENPX	A8MT69	969

IntAct

163 interactions, top by confidence:

A	B	Type	Score
FANCA	FANCG	psi-mi:“MI:0914”(association)	0.960
FANCG	FANCA	psi-mi:“MI:0915”(physical association)	0.960
FANCA	FANCG	psi-mi:“MI:0915”(physical association)	0.960
FANCG	FANCA	psi-mi:“MI:0914”(association)	0.960
FANCA	FANCG	psi-mi:“MI:2364”(proximity)	0.960
FANCG	FANCA	psi-mi:“MI:2364”(proximity)	0.960
FANCA	FANCG	psi-mi:“MI:0403”(colocalization)	0.960
RFXANK	RFXAP	psi-mi:“MI:0914”(association)	0.780
FANCF	FANCG	psi-mi:“MI:0915”(physical association)	0.750
BRCA1	FANCA	psi-mi:“MI:0915”(physical association)	0.750

BioGRID (504): FANCA (Affinity Capture-Western), APITD1 (Affinity Capture-Western), STRA13 (Affinity Capture-Western), FANCA (Affinity Capture-MS), FANCA (Affinity Capture-Western), FANCA (Affinity Capture-Western), FANCA (Affinity Capture-MS), FANCA (Affinity Capture-Western), CTNNB1 (Affinity Capture-Western), FANCA (Affinity Capture-Western), FANCA (Affinity Capture-MS), FANCM (Affinity Capture-MS), BLM (Affinity Capture-MS), C17orf70 (Affinity Capture-MS), TOP3A (Affinity Capture-MS)

ESM2 similar proteins: A0JN53, A0PJX8, A1L1L2, A1L3T7, A4FV45, B0BMG8, E2JF22, G3HQ82, O15360, O43299, O70491, P60330, Q0KL00, Q0V8E7, Q17Q97, Q24JP3, Q3U829, Q49LS3, Q4QR83, Q562E7, Q5ND34, Q5R7B4, Q5T1A1, Q5XG04, Q6NUQ4, Q6PH58, Q6UX68, Q7L4E1, Q7Z412, Q8BGI5, Q8BM55, Q8BSD4, Q8BXV2, Q8C3R1, Q8C7B8, Q8IXR5, Q8K0R6, Q8N6S5, Q8R115, Q8VCA6

Diamond homologs: O15360, Q9JL70

SIGNOR signaling

7 interactions.

A	Effect	B	Mechanism
ATM	up-regulates	FANCA	phosphorylation
ATR	up-regulates	FANCA	phosphorylation
FANCA	“form complex”	“Fanconi anemia core complex”	binding
AURKA	“up-regulates activity”	FANCA	phosphorylation
PRKAA1	“up-regulates activity”	FANCA	phosphorylation
AKT	unknown	FANCA	phosphorylation
AKT1	unknown	FANCA	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 128 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Fanconi Anemia Pathway	9	29.5×	9e-09
Nephrin family interactions	5	28.0×	1e-04
Downstream signal transduction	6	26.9×	2e-05
PKR-mediated signaling	10	16.6×	1e-07
RHOU GTPase cycle	5	16.4×	1e-03
FCGR3A-mediated phagocytosis	5	11.0×	4e-03
VEGFA-VEGFR2 Pathway	6	9.8×	2e-03
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	6	6.8×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
interstrand cross-link repair	9	34.7×	3e-09

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 1 cancer types — PRAD.

Clinical variants and AI predictions

ClinVar

6779 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	746
Likely pathogenic	324
Uncertain significance	2625
Likely benign	2308
Benign	193

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1045251	NM_000135.4(FANCA):c.4185dup (p.Ile1396fs)	Pathogenic
1066574	NC_000016.9:g.(?89828347)(89862436_?)del	Pathogenic
1066577	NC_000016.9:g.(?89811357)(89815185_?)del	Pathogenic
1068810	NM_000135.4(FANCA):c.2053_2054dup (p.Ala686fs)	Pathogenic
1068905	NM_000135.4(FANCA):c.184del (p.Glu63fs)	Pathogenic
1069019	NM_000135.4(FANCA):c.4011-1G>C	Pathogenic
1069157	NC_000016.9:g.(?89880908)(89883023_?)del	Pathogenic
1069158	NC_000016.9:g.(?89807202)(89883024_?)del	Pathogenic
1069470	NC_000016.9:g.(?89877105)(89877489_?)del	Pathogenic
1069471	NC_000016.9:g.(?89845199)(89874785_?)del	Pathogenic
1069968	NM_000135.4(FANCA):c.731T>A (p.Leu244Ter)	Pathogenic
1070229	NM_000135.4(FANCA):c.2656G>T (p.Glu886Ter)	Pathogenic
1070466	NM_000135.4(FANCA):c.3154_3155del (p.Phe1052fs)	Pathogenic
1070592	NM_000135.4(FANCA):c.2014+1del	Pathogenic
1071066	NM_000135.4(FANCA):c.2832dup (p.Ala945fs)	Pathogenic
1071067	NM_000135.4(FANCA):c.1144C>T (p.Gln382Ter)	Pathogenic
1071158	NC_000016.9:g.(?89805009)(89883024_?)del	Pathogenic
1071159	NC_000016.9:g.(?89833539)(89833655_?)del	Pathogenic
1071160	NC_000016.9:g.(?89842140)(89842233_?)del	Pathogenic
1071161	NC_000016.9:g.(?89880918)(89881031_?)del	Pathogenic
1071162	NC_000016.9:g.(?89816056)(89816320_?)del	Pathogenic
1071363	NC_000016.9:g.(?89824975)(89842233_?)del	Pathogenic
1071364	NC_000016.9:g.(?89828347)(89839802_?)del	Pathogenic
1071365	NC_000016.9:g.(?89818536)(89839802_?)del	Pathogenic
1071366	NC_000016.9:g.(?89809198)(89833655_?)del	Pathogenic
1071407	NM_000135.4(FANCA):c.2299C>T (p.Gln767Ter)	Pathogenic
1071443	NM_000135.4(FANCA):c.3927dup (p.Glu1310fs)	Pathogenic
1073058	NM_000135.4(FANCA):c.800_801dup (p.Asp268fs)	Pathogenic
1073065	NC_000016.9:g.(?89864654)(89883033_?)del	Pathogenic
1073067	NC_000016.9:g.(?89862294)(89883023_?)del	Pathogenic

SpliceAI

9472 predictions. Top by Δscore:

Variant	Effect	Δscore
16:89727338:T:G	donor_gain	1.0000
16:89729229:TCCTA:T	acceptor_loss	1.0000
16:89729232:TA:T	acceptor_loss	1.0000
16:89729233:A:AG	acceptor_gain	1.0000
16:89729233:A:C	acceptor_loss	1.0000
16:89729234:G:GG	acceptor_gain	1.0000
16:89729234:GA:G	acceptor_gain	1.0000
16:89729234:GAGA:G	acceptor_gain	1.0000
16:89729234:GAGAC:G	acceptor_gain	1.0000
16:89729314:AGGAA:A	donor_gain	1.0000
16:89729315:GGAA:G	donor_gain	1.0000
16:89729315:GGAAG:G	donor_gain	1.0000
16:89729316:G:GT	donor_gain	1.0000
16:89729316:G:T	donor_gain	1.0000
16:89729316:GAA:G	donor_gain	1.0000
16:89729316:GAAGT:G	donor_loss	1.0000
16:89729317:AA:A	donor_gain	1.0000
16:89729318:AG:A	donor_loss	1.0000
16:89729319:G:GG	donor_gain	1.0000
16:89729319:GTA:G	donor_loss	1.0000
16:89729320:T:A	donor_loss	1.0000
16:89733919:A:AG	acceptor_gain	1.0000
16:89733920:G:GG	acceptor_gain	1.0000
16:89733920:GAA:G	acceptor_gain	1.0000
16:89734037:AGGTA:A	donor_loss	1.0000
16:89734038:GGT:G	donor_loss	1.0000
16:89734039:GTAC:G	donor_loss	1.0000
16:89734040:T:A	donor_loss	1.0000
16:89737903:GCA:G	donor_gain	1.0000
16:89737906:G:GG	donor_gain	1.0000

AlphaMissense

9486 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:89778971:A:G	F583S	0.993
16:89783032:G:T	A514D	0.992
16:89792518:A:G	W346R	0.992
16:89792518:A:T	W346R	0.992
16:89779881:A:T	V568D	0.991
16:89791459:G:T	R435S	0.991
16:89783020:A:G	L518P	0.990
16:89762007:A:G	W932R	0.989
16:89762007:A:T	W932R	0.989
16:89778997:G:C	F574L	0.989
16:89778997:G:T	F574L	0.989
16:89778999:A:G	F574L	0.989
16:89783023:C:G	R517P	0.989
16:89792538:G:T	A339D	0.989
16:89778807:A:G	L607P	0.987
16:89791407:A:G	F452S	0.987
16:89791996:A:G	W386R	0.987
16:89791996:A:T	W386R	0.987
16:89778970:G:C	F583L	0.984
16:89778970:G:T	F583L	0.984
16:89778972:A:G	F583L	0.984
16:89783077:A:T	V499D	0.984
16:89791411:A:G	W451R	0.984
16:89791411:A:T	W451R	0.984
16:89779910:A:C	F558L	0.983
16:89779910:A:T	F558L	0.983
16:89779912:A:G	F558L	0.983
16:89783045:A:C	Y510D	0.982
16:89784885:A:G	L480P	0.982
16:89784956:A:C	F456L	0.982

dbSNP variants (sampled 300 via entrez): RS1000020268 (16:89795361 G>A), RS1000072213 (16:89771337 T>C), RS1000086901 (16:89756776 G>C), RS1000114964 (16:89807405 G>C), RS1000145658 (16:89772091 C>A,G,T), RS1000188136 (16:89802910 A>C,G), RS1000198574 (16:89772215 C>G,T), RS1000202044 (16:89797244 T>G), RS1000257954 (16:89778643 A>AG), RS1000265601 (16:89753711 C>A), RS1000281835 (16:89753561 C>T), RS1000302588 (16:89743361 G>A), RS1000312622 (16:89782299 C>G), RS1000338931 (16:89742730 C>G,T), RS1000368896 (16:89806442 G>A)

Disease associations

OMIM: gene MIM:607139 | disease phenotypes: MIM:227650, MIM:167000, MIM:233420, MIM:613099

GenCC curated gene-disease

Disease	Classification	Inheritance
Fanconi anemia complementation group A	Definitive	Autosomal recessive
Fanconi anemia	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Fanconi anemia complementation group A	Definitive	AR

Mondo (16): Fanconi anemia complementation group A (MONDO:0009215), Fanconi anemia (MONDO:0019391), hereditary neoplastic syndrome (MONDO:0015356), prostate cancer (MONDO:0008315), hepatoblastoma (MONDO:0018666), ovarian cancer (MONDO:0008170), breast cancer (MONDO:0007254), 46,XY sex reversal 7 (MONDO:0009301), diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype (MONDO:0858939), pediatric high-grade glioma (MONDO:1010030), congenital portosystemic shunt (MONDO:0018811), neuroblastoma (MONDO:0005072), neurodevelopmental disorder (MONDO:0700092), melanoma, cutaneous malignant, susceptibility to, 5 (MONDO:0013133), primary ovarian failure (MONDO:0005387)

Orphanet (11): Fanconi anemia (Orphanet:84), Inherited cancer-predisposing syndrome (Orphanet:140162), Familial prostate cancer (Orphanet:1331), Hepatoblastoma (Orphanet:449), Rare ovarian cancer (Orphanet:213500), 46,XY complete gonadal dysgenesis (Orphanet:242), Congenital portosystemic shunt (Orphanet:480531), Neuroblastoma (Orphanet:635), Familial melanoma (Orphanet:618), Pituitary stalk interruption syndrome (Orphanet:95496), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

130 total (30 of 130 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000027	Azoospermia
HP:0000028	Cryptorchidism
HP:0000035	Abnormal testis morphology
HP:0000047	Hypospadias
HP:0000072	Hydroureter
HP:0000079	Abnormality of the urinary system
HP:0000081	Duplicated collecting system
HP:0000083	Renal insufficiency
HP:0000085	Horseshoe kidney
HP:0000086	Ectopic kidney
HP:0000104	Renal agenesis
HP:0000130	Abnormality of the uterus
HP:0000135	Hypogonadism
HP:0000175	Cleft palate
HP:0000218	High palate
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000268	Dolichocephaly
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000324	Facial asymmetry
HP:0000340	Sloping forehead
HP:0000347	Micrognathia
HP:0000364	Hearing abnormality
HP:0000365	Hearing impairment
HP:0000377	Abnormal pinna morphology
HP:0000453	Choanal atresia
HP:0000478	Abnormality of the eye

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST002087_17	Homocysteine levels	8.000000e-11
GCST005580_139	Intraocular pressure	2.000000e-14
GCST005790_40	Rosacea symptom severity	2.000000e-07
GCST005897_50	Low tan response	3.000000e-260
GCST005897_51	Low tan response	4.000000e-205
GCST005897_52	Low tan response	6.000000e-45
GCST005897_53	Low tan response	2.000000e-47
GCST006394_102	Intraocular pressure	1.000000e-13
GCST006412_95	Intraocular pressure	4.000000e-15
GCST006986_19	Red vs. brown/black hair color	3.000000e-09
GCST006986_25	Red vs. brown/black hair color	3.000000e-221
GCST006986_27	Red vs. brown/black hair color	2.000000e-308
GCST006986_6	Red vs. brown/black hair color	2.000000e-12
GCST007486_10	Hair morphology traits	3.000000e-11
GCST007486_15	Hair morphology traits	4.000000e-18
GCST007486_18	Hair morphology traits	3.000000e-09
GCST007486_25	Hair morphology traits	2.000000e-17
GCST007488_1	Skin pigmentation traits	7.000000e-09
GCST007488_13	Skin pigmentation traits	4.000000e-10
GCST009725_34	Intraocular pressure	7.000000e-13
GCST010083_26	Hemoglobin levels	2.000000e-11
GCST010703_280	Brain morphology (MOSTest)	2.000000e-15
GCST012490_642	Femur bone mineral density x serum urate levels interaction	4.000000e-09
GCST90002393_504	Monocyte count	2.000000e-16
GCST90002394_507	Monocyte percentage of white cells	3.000000e-09
GCST90002394_508	Monocyte percentage of white cells	2.000000e-09

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0004578	homocysteine measurement
EFO:0004695	intraocular pressure measurement
EFO:0009180	rosacea severity measurement
EFO:0004279	suntan
EFO:0003924	hair color
EFO:0004509	hemoglobin measurement
EFO:0004346	neuroimaging measurement
EFO:0004531	urate measurement
EFO:0005091	monocyte count
EFO:0007989	monocyte percentage of leukocytes

MeSH disease descriptors (9)

Descriptor	Name	Tree numbers
D005199	Fanconi Anemia	C15.378.050.085.080.280; C15.378.190.223.500.500.280; C16.320.077.280; C18.452.284.280
D018197	Hepatoblastoma	C04.557.435.380
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700
D009447	Neuroblastoma	C04.557.465.625.600.590.650.550; C04.557.470.670.590.650.550; C04.557.580.625.600.590.650.550
D065886	Neurodevelopmental Disorders	F03.625
D010051	Ovarian Neoplasms	C04.588.322.455; C12.050.351.500.056.630.705; C12.050.351.937.418.685; C12.100.250.056.630.705; C12.900.418.685; C19.344.410; C19.391.630.705
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750
C565537	46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

63 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, decreases expression, affects cotreatment, increases abundance, increases expression	8
Arsenic	increases abundance, affects methylation, affects cotreatment, decreases expression	3
Benzo(a)pyrene	affects methylation, increases expression, increases mutagenesis	3
chromium hexavalent ion	decreases expression, increases abundance, increases response to substance	2
Lipopolysaccharides	decreases reaction, increases expression, affects reaction, decreases expression, increases secretion	2
Nickel	increases expression	2
Silicon Dioxide	decreases expression, increases expression	2
GSK-J4	decreases expression	1
pradimicin-IRD	affects response to substance, affects expression	1
lasiocarpine	decreases expression, increases metabolic processing	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
VX-agent	increases expression	1
riddelliine	decreases expression, increases metabolic processing	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
quinoline yellow	increases expression	1
perfluorooctanoic acid	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
potassium chromate(VI)	increases expression	1
aflatoxin B2	decreases methylation	1
nickel sulfate	increases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
4(2’-aminoethyl)amino-1,8-dimethylimidazo(1,2-a)quinoxaline	decreases expression	1
abrine	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
NSC 689534	affects binding, decreases expression	1
Dasatinib	decreases expression	1

Cellosaurus cell lines

75 cell lines: 39 transformed cell line, 20 finite cell line, 12 cancer cell line, 3 induced pluripotent stem cell, 1 telomerase immortalized cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_2895	FA18JTO	Finite cell line	Male
CVCL_AK37	HSC 72	Transformed cell line	Female
CVCL_AK41	GM16632	Finite cell line	Female
CVCL_AK42	HSC 72OT	Transformed cell line	Female
CVCL_AK51	EUFA043	Transformed cell line
CVCL_AK52	EUFA127	Transformed cell line
CVCL_AK53	EUFA139	Transformed cell line
CVCL_AK54	EUFA186	Transformed cell line
CVCL_AK55	EUFA223	Transformed cell line
CVCL_AK56	EUFA232	Transformed cell line

Clinical trials (associated diseases)

117 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT06519786	PHASE3	UNKNOWN	Safety and Efficacy of Metformin for Treatment of Cytopenia in Children and Adolescents With Fanconi Anemia
NCT04069533	PHASE2	ACTIVE_NOT_RECRUITING	Lentiviral-mediated Gene Therapy for Pediatric Patients With Fanconi Anemia Subtype A
NCT04248439	PHASE2	ACTIVE_NOT_RECRUITING	Gene Therapy for Fanconi Anemia, Complementation Group A
NCT00000603	PHASE2	COMPLETED	Cord Blood Stem Cell Transplantation Study (COBLT)
NCT00001749	PHASE2	COMPLETED	Medical Treatment for Diamond Blackfan Anemia
NCT00004787	PHASE2	COMPLETED	Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes
NCT00053989	PHASE2	COMPLETED	NMA Allogeneic Hematopoietic Cell Transplant in Hematologic Cancer/Disorders
NCT00084695	PHASE2	UNKNOWN	Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases
NCT00258427	PHASE2	COMPLETED	Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia
NCT00453388	PHASE2	COMPLETED	Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant, Mycophenolate Mofetil, and Cyclosporine in Treating Patients With Fanconi Anemia
NCT01071239	PHASE2	COMPLETED	Hematopoietic Stem Cell Transplant for Fanconi Anemia
NCT02143830	PHASE2	RECRUITING	HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy
NCT02931071	PHASE2	COMPLETED	Clinical Phase II Trial to Evaluate CD34+ Cells Mobilization and Collection in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene. FANCOSTEM-1
NCT03206086	PHASE2	ACTIVE_NOT_RECRUITING	Eltrombopag for People With Fanconi Anemia
NCT03398824	PHASE2	COMPLETED	Pilot Study of Metformin for Patients With Fanconi Anemia
NCT03476330	PHASE2	COMPLETED	Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia
NCT03579875	PHASE2	RECRUITING	Alpha/Beta TCD HCT in Patients With Inherited BMF Disorders
NCT03600909	PHASE2	TERMINATED	A Study of the Effect of Blood Stem Cell Transplant After Chemotherapy Alone in Patients With Fanconi Anemia
NCT04232085	PHASE2	RECRUITING	Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures
NCT06045052	PHASE2	COMPLETED	Eltrombopag for Treatment of Fanconi Anemia
NCT03814408	PHASE1	UNKNOWN	A Clinical Trial to Evaluate the Safety of RP-L102 in Pediatric Subjects With Fanconi Anemia Subtype A
NCT00001399	PHASE1	COMPLETED	Gene Therapy for the Treatment of Fanconi’s Anemia Type C
NCT00005896	PHASE1	UNKNOWN	Phase I Pilot Study of CD34 Enriched, Fanconi’s Anemia Complementation Group C Gene Transduced Autologous Peripheral Blood Stem Cell Transplantation in Patients With Fanconi’s Anemia
NCT00006127	PHASE1	UNKNOWN	Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi’s Anemia
NCT00093743	PHASE1	COMPLETED	Low-Dose Total-Body Irradiation and Fludarabine Phosphate Followed by Unrelated Donor Stem Cell Transplant in Treating Patients With Fanconi Anemia
NCT00243399	PHASE1	COMPLETED	Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia
NCT00272857	PHASE1	COMPLETED	Bone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia
NCT00317876	PHASE1	COMPLETED	Cyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi’s Anemia
NCT00586274	PHASE1	TERMINATED	Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT
NCT01331018	PHASE1	TERMINATED	Gene Therapy for Fanconi Anemia
NCT01720147	PHASE1	COMPLETED	Quercetin in Children With Fanconi Anemia; a Pilot Study
NCT01917708	PHASE1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT04437771	Not specified	ACTIVE_NOT_RECRUITING	Long-Term Follow-up of Subjects With Fanconi Anaemia Subtype A Treated With ex Vivo Gene Therapy
NCT07242261	Not specified	NOT_YET_RECRUITING	Non-invasive Characterisation of Oral Carcinomas in Patients With Fanconi Anaemia
NCT00352976	PHASE2/PHASE3	COMPLETED	TBI Dose De-escalation for Fanconi Anemia
NCT01019876	PHASE2/PHASE3	COMPLETED	Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases
NCT00005898	PHASE1/PHASE2	COMPLETED	Phase I/II Study of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Cell Transplantation in Patients With Fanconi’s Anemia
NCT00167206	PHASE1/PHASE2	TERMINATED	Stem Cell Transplantation for Fanconi Anemia
NCT00305708	PHASE1/PHASE2	COMPLETED	Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission
NCT00479115	PHASE1/PHASE2	COMPLETED	Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and AMD3100