FANCI

Summary

FANCI (FA complementation group I, HGNC:25568) is a protein-coding gene on chromosome 15q26.1, encoding Fanconi anemia group I protein (Q9NVI1). Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. It is a selective cancer dependency (DepMap: 16.4% 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 I. Alternative splicing results in two transcript variants encoding different isoforms.

Source: NCBI Gene 55215 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Fanconi anemia complementation group I (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 6
• Clinical variants (ClinVar): 2,541 total — 114 pathogenic, 137 likely-pathogenic
• Phenotypes (HPO): 140
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 16.4% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_001113378

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25568
Approved symbol	FANCI
Name	FA complementation group I
Location	15q26.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10719
Ensembl gene	ENSG00000140525
Ensembl biotype	protein_coding
OMIM	611360
Entrez	55215

Gene structure

Transcript identifiers

Ensembl transcripts: 81 — 68 protein_coding, 8 retained_intron, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000300027, ENST00000310775, ENST00000447611, ENST00000561894, ENST00000563250, ENST00000564350, ENST00000564636, ENST00000564920, ENST00000565255, ENST00000565522, ENST00000566615, ENST00000566895, ENST00000567891, ENST00000567996, ENST00000568670, ENST00000570110, ENST00000570225, ENST00000674831, ENST00000675352, ENST00000676003, ENST00000676110, ENST00000696717, ENST00000696718, ENST00000696719, ENST00000696720, ENST00000696721, ENST00000696722, ENST00000886447, ENST00000886451, ENST00000886453, ENST00000886455, ENST00000886457, ENST00000886459, ENST00000886461, ENST00000886463, ENST00000886465, ENST00000886468, ENST00000940788, ENST00000940789, ENST00000940790, ENST00000940791, ENST00000940792, ENST00000940793, ENST00000940794, ENST00000940795, ENST00000940796, ENST00000940797, ENST00000940798, ENST00000940799, ENST00000940800, ENST00000940801, ENST00000940802, ENST00000940803, ENST00000940804, ENST00000940805, ENST00000940806, ENST00000940807, ENST00000940808, ENST00000940809, ENST00000940810, ENST00000940811, ENST00000940812, ENST00000940813, ENST00000940814, ENST00000940815, ENST00000940816, ENST00000940817, ENST00000940818, ENST00000940819, ENST00000940820, ENST00000940821, ENST00000940822, ENST00000940823, ENST00000940824, ENST00000940825, ENST00000940826, ENST00000940827, ENST00000940828, ENST00000940829, ENST00000940830, ENST00000943074

RefSeq mRNA: 4 — MANE Select: NM_001113378 NM_001113378, NM_001376910, NM_001376911, NM_018193

CCDS: CCDS10349, CCDS45346, CCDS92061

Canonical transcript exons

ENST00000310775 — 38 exons

Exon	Start	End
ENSE00000943564	89264522	89264607
ENSE00000943565	89268399	89268525
ENSE00000943566	89273377	89273469
ENSE00000943567	89274168	89274304
ENSE00001163934	89263903	89264026
ENSE00001217382	89278687	89278774
ENSE00001217519	89276711	89276891
ENSE00001348092	89281765	89281835
ENSE00001364507	89283136	89283250
ENSE00001480096	89243979	89244033
ENSE00002596328	89316397	89317131
ENSE00003464148	89292688	89292864
ENSE00003482281	89260713	89260843
ENSE00003503512	89312904	89312972
ENSE00003510607	89261821	89261878
ENSE00003510748	89307476	89307529
ENSE00003513478	89307613	89307672
ENSE00003520358	89300300	89300385
ENSE00003524389	89281170	89281300
ENSE00003528148	89292942	89293063
ENSE00003531398	89294915	89295094
ENSE00003532827	89314612	89314707
ENSE00003537650	89285096	89285218
ENSE00003537770	89291613	89291714
ENSE00003571872	89305341	89305409
ENSE00003577772	89299800	89299966
ENSE00003578271	89305115	89305242
ENSE00003579356	89306007	89306194
ENSE00003592204	89301326	89301442
ENSE00003609106	89303864	89303915
ENSE00003632455	89315282	89315389
ENSE00003641915	89261585	89261741
ENSE00003645183	89247629	89247731
ENSE00003649449	89293833	89293997
ENSE00003672441	89305605	89305698
ENSE00003673754	89290213	89290281
ENSE00003677039	89258704	89258776
ENSE00003691481	89263419	89263460

Expression profiles

Bgee: expression breadth ubiquitous, 221 present calls, max score 95.11.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.4038 / max 442.4410, expressed in 1612 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
148351	18.4038	1612

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	95.11	gold quality
secondary oocyte	CL:0000655	94.03	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.53	gold quality
ganglionic eminence	UBERON:0004023	92.20	gold quality
right testis	UBERON:0004534	91.89	gold quality
oocyte	CL:0000023	91.84	gold quality
embryo	UBERON:0000922	91.67	gold quality
left testis	UBERON:0004533	91.59	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.21	gold quality
testis	UBERON:0000473	90.80	gold quality
bone marrow cell	CL:0002092	88.19	gold quality
bone marrow	UBERON:0002371	87.42	gold quality
rectum	UBERON:0001052	86.42	gold quality
trabecular bone tissue	UBERON:0002483	85.70	gold quality
vermiform appendix	UBERON:0001154	84.36	gold quality
mucosa of transverse colon	UBERON:0004991	83.72	gold quality
adrenal tissue	UBERON:0018303	83.59	gold quality
endothelial cell	CL:0000115	83.49	gold quality
tonsil	UBERON:0002372	82.39	gold quality
lymph node	UBERON:0000029	81.97	gold quality
stromal cell of endometrium	CL:0002255	81.90	gold quality
esophagus mucosa	UBERON:0002469	81.74	gold quality
endometrium epithelium	UBERON:0004811	81.71	silver quality
thymus	UBERON:0002370	81.66	gold quality
caecum	UBERON:0001153	80.37	gold quality
lower esophagus mucosa	UBERON:0035834	80.15	gold quality
gingival epithelium	UBERON:0001949	79.23	gold quality
granulocyte	CL:0000094	78.93	gold quality
skin of leg	UBERON:0001511	78.85	gold quality
epithelium of nasopharynx	UBERON:0001951	78.75	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-6678	yes	10.21
E-MTAB-6911	no	319.77
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

38 targeting FANCI, 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-548AW	99.99	72.57	3559
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-4452	99.50	68.45	1493
HSA-MIR-4325	99.49	72.20	1342
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-6165	99.44	67.12	1389
HSA-MIR-542-3P	99.34	67.58	1270
HSA-MIR-18A-5P	99.29	71.05	806
HSA-MIR-18B-5P	99.29	71.05	806
HSA-MIR-488-5P	99.28	68.12	821
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-4735-3P	99.14	69.85	777
HSA-MIR-6737-3P	98.95	68.56	1577
HSA-MIR-7157-3P	98.95	68.70	1582
HSA-MIR-935	98.82	69.36	1072
HSA-MIR-4742-3P	98.73	69.82	1803
HSA-MIR-5008-3P	98.73	67.50	1433
HSA-MIR-6868-3P	98.63	69.64	2259
HSA-MIR-1178-3P	98.57	67.09	890
HSA-MIR-216B-3P	98.55	67.19	1223
HSA-MIR-4303	98.01	68.13	2304

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 16.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• description of the Fanconi anemia protein FANCI, identified as an ATM/ATR kinase substrate required for resistance to mitomycin C; it associates with FANCD2 and, together, as the FANCI-FANCD2 (ID) complex, localizes to chromatin in response to DNA damage (PMID:17412408)
• These data add up to two conclusions. First, KIAA1794 is a Fanconi anemia gene. Second, this gene is identical to FANCI, since the patient cell lines found mutated in this study included the reference cell line for group I, EUFA592. (PMID:17452773)
• FANCI, a member of the Fanconi anemia pathway, is monoubiquitinated in a site-specific and DNA damage dependent manner. (PMID:17460694)
• Results suggest that the multiple phosphorylation of FANCI serves as a molecular switch in activation of the Fanconi anemia pathway. (PMID:18931676)
• This work therefore establishes a system that provides mechanistic insight into the functions of FANCL and FANCI in the catalysis of FANCD2 monoubiquitination. (PMID:19111657)
• Data show that FANCD2 and FANCI specifically associate with common fragile site loci irrespective of whether the chromosome is broken, and that these loci are frequently interlinked through BLM-associated ultra-fine DNA bridges through mitosis. (PMID:19465922)
• the FANCI-FANCD2 complex may participate in repair of damaged replication forks through its preferential recognition of branched structures. (PMID:19561358)
• Upon the occurrence of DNA damage, FANCI becomes monoubiquitinated on Lys-523 by the UBE2T-FANCL pair. (PMID:19589784)
• results rule out a major role of FANCI in familial breast cancer susceptibility (PMID:19737859)
• study characterizes FANI which promotes DNA interstrand cross-linking repair in a manner strictly dependent on its ability to accumulate at or near sites of DNA damage and that relies on mono-ubiquitylation of the FANCI-FANCD2 complex (PMID:20671156)
• although proper nuclear localization of FANCI is crucial for robust FANCD2 monoubiquitination, the putative FANCI EDGE motif is important for DNA crosslink repair (PMID:20971953)
• These data suggest a key role for the E3 ligase activity of RAD18 in the recruitment of FANCD2 and FANCI to chromatin and the events leading to their ubiquitylation during S phase. (PMID:21355096)
• A CUE ubiquitin-binding domain in the FANCD2 protein is required for interaction with FANCI, retention of monoubiquitinated FANCD2, and FANCI in chromatin, and for efficient DNA interstrand crosslinks repair. (PMID:22855611)
• Our studies reveal a previously unknown mechanism for the coordinate nuclear import of a subset of FANCD2 and FANCI, a key early step in the cellular ICL response. (PMID:24278431)
• Mutations in FANCI that impair its DNA binding activity compromise DNA-stimulated FANCD2 monoubiquitination. (PMID:24623813)
• these purification methods for human FANCI and FANCD2 provide novel procedures to facilitate structural and biochemical studies of human FANCI and FANCD2. (PMID:25168188)
• Results show that ATR-mediated phosphorylation of FANCI, controls dormant origin firing in response to DNA replication stress. (PMID:25843623)
• FANCJ protein is important for the stability of FANCD2/FANCI proteins and protects them from proteasome and caspase-3 dependent degradation. (PMID:26336824)
• These findings indicate that FANCI functions upstream of FA core complex recruitment independently of FANCD2, and alter the current view of the FA-BRCA pathway. (PMID:26430909)
• FANCI mutations are associated with Fanconi anemia in VACTERL association. (PMID:26590883)
• depletion of FANCI, but not FANCD2 or USP1, results in increased phosphorylation and activation of Akt. (PMID:27097374)
• Study reports the first structural insight into the human FANCD2-FANCI complex by obtaining the cryo-EM structure. The complex contains an inner cavity, large enough to accommodate a double-stranded DNA helix, as well as a protruding Tower domain. Disease-causing mutations in the Tower domain are observed in several Fanconi anemia patients. (PMID:27405460)
• FANCB dimer coordinates FANCD2:FANCI monoubiquitination by two FANCL RING-ligases. Deubiquitination of FANCD2:FANCI by USP1:UAF1 occurs only when DNA is removed. (PMID:27986371)
• FANCI phosphorylation activates the FANCI/D2 complex. (PMID:28636932)
• Fanconi anemia FANCD2 and FANCI proteins regulate the nuclear dynamics of splicing factors, such as SF3B1. (PMID:29030393)
• Data suggest that FANCI and FANCD2 have partially non-overlapping and possibly even opposing roles during the replication stress response. (PMID:29059323)
• BRMS1FANCI interaction is necessary for the regulatory role of BRMS1 in the FA pathway. (PMID:30365131)
• show that FANCI localizes to the nucleolus and is functionally and physically tied to the transcription of pre-ribosomal RNA (pre-rRNA) and to large ribosomal subunit (LSU) pre-rRNA processing independent of FANCD2 (PMID:30692263)
• Monoubiquitination by the human Fanconi anemia core complex clamps FANCI:FANCD2 on DNA in filamentous arrays. (PMID:32167469)
• cryo-electron microscopy structure of the monoubiquitinated human ID complex (involving the proteins FANCI and FANCD2) bound to DNA, and reveal that it forms a closed ring that encircles the DNA (PMID:32269332)
• Differential functions of FANCI and FANCD2 ubiquitination stabilize ID2 complex on DNA. (PMID:32510829)
• Structural insight into FANCI-FANCD2 monoubiquitination. (PMID:32725171)
• Inactivation of ribosomal protein S27-like impairs DNA interstrand cross-link repair by destabilization of FANCD2 and FANCI. (PMID:33051438)
• Mechanism, specificity, and function of FANCD2-FANCI ubiquitination and deubiquitination. (PMID:34137174)
• FANCI functions as a repair/apoptosis switch in response to DNA crosslinks. (PMID:34256011)
• Regulation of the Fanconi Anemia DNA Repair Pathway by Phosphorylation and Monoubiquitination. (PMID:34828369)
• A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene. (PMID:34861889)
• Silencing of FANCI Promotes DNA Damage and Sensitizes Ovarian Cancer Cells to Carboplatin. (PMID:35362384)
• Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene. (PMID:36833203)
• FANCI is Associated with Poor Prognosis and Immune Infiltration in Liver Hepatocellular Carcinoma. (PMID:37324186)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	fanci	ENSDARG00000026224
mus_musculus	Fanci	ENSMUSG00000039187
rattus_norvegicus	Fanci	ENSRNOG00000016689
drosophila_melanogaster	FANCI	FBGN0033354
caenorhabditis_elegans	fnci-1	WBGENE00020935

Protein

Protein identifiers

Fanconi anemia group I protein — Q9NVI1 (reviewed: Q9NVI1)

All UniProt accessions (12): A0A6Q8PGF4, A0A6Q8PH09, A0A8Q3SIW9, A0A8Q3SIZ6, Q9NVI1, F8W7R3, H3BMG4, H3BN35, H3BP78, H3BQE2, H3BS60, H3BT54

UniProt curated annotations — full annotation on UniProt →

Function. Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. The FANCI-FANCD2 complex binds and scans double-stranded DNA (dsDNA) for DNA damage; this complex stalls at DNA junctions between double-stranded DNA and single-stranded DNA. Participates in S phase and G2 phase checkpoint activation upon DNA damage.

Subunit / interactions. Homodimer. Part of a FANCI-FANCD2 heterodimeric complex that binds and scans dsDNA for DNA damage. Interacts with FANCL. Interacts with MTMR15/FAN1. Interacts with POLN. Interacts with UBL5; the interaction promotes FANCI homodimerization.

Subcellular location. Nucleus. Cytoplasm.

Post-translational modifications. Monoubiquitinated by FANCL on Lys-523 during S phase and upon genotoxic stress. Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed. Monoubiquitination requires the FANCA-FANCB-FANCC-FANCE-FANCF-FANCG-FANCM complex. Ubiquitination is required for binding to chromatin, DNA repair, and normal cell cycle progression. Monoubiquitination is stimulated by DNA-binding. Phosphorylated in response to DNA damage by ATM and/or ATR. Phosphorylation of FANCI promotes ubiquitination of FANCD2, which prevents DNA release from the FANCI-FANCD2 complex.

Disease relevance. Fanconi anemia complementation group I (FANCI) [MIM:609053] 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.

Domain organisation. The C-terminal 30 residues are probably required for function in DNA repair.

Similarity. Belongs to the Fanconi anemia group I protein family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9NVI1-3	3	yes
Q9NVI1-2	2
Q9NVI1-1	1
Q9NVI1-4	4

RefSeq proteins (4): NP_001106849, NP_001363839, NP_001363840, NP_060663 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026171	FANCI	Family
IPR029305	FANCI_S1-cap	Domain
IPR029308	FANCI_S1	Domain
IPR029310	FANCI_HD1	Domain
IPR029312	FANCI_HD2	Domain
IPR029313	FANCI_S3	Domain
IPR029314	FANCI_S4	Domain
IPR029315	FANCI_S2	Domain

Pfam: PF14674, PF14675, PF14676, PF14677, PF14678, PF14679, PF14680

UniProt features (114 total): helix 65, strand 17, turn 10, sequence variant 6, modified residue 5, splice variant 3, sequence conflict 3, chain 1, region of interest 1, mutagenesis site 1, compositionally biased region 1, cross-link 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
8A9J	ELECTRON MICROSCOPY	2.8
8A9K	ELECTRON MICROSCOPY	2.85
6VAD	ELECTRON MICROSCOPY	3.3
6VAA	ELECTRON MICROSCOPY	3.4
6VAE	ELECTRON MICROSCOPY	3.6
7AY1	ELECTRON MICROSCOPY	3.7
6VAF	ELECTRON MICROSCOPY	3.9
7ZF1	ELECTRON MICROSCOPY	4.14

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NVI1-F1	83.61	0.53

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 (6): 407, 556, 730, 952, 1121, 523

Mutagenesis-validated functional residues (1):

Position	Phenotype
523	abolishes monoubiquitination by fancl and ube2t.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6783310	Fanconi Anemia Pathway
R-HSA-6796648	TP53 Regulates Transcription of DNA Repair Genes

MSigDB gene sets: 527 (showing top): PID_FANCONI_PATHWAY, WU_APOPTOSIS_BY_CDKN1A_VIA_TP53, GNF2_MSH2, KANG_DOXORUBICIN_RESISTANCE_UP, GNF2_CENPF, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, MORF_BRCA1, MITSIADES_RESPONSE_TO_APLIDIN_DN, CAGGTCC_MIR492, GNF2_RRM1, PUJANA_CHEK2_PCC_NETWORK, MORF_PPP5C, GNF2_SMC4L1, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_DN, GNF2_RFC3

GO Biological Process (4): positive regulation of protein ubiquitination (GO:0031398), interstrand cross-link repair (GO:0036297), DNA repair (GO:0006281), DNA damage response (GO:0006974)

GO Molecular Function (3): DNA binding (GO:0003677), DNA polymerase binding (GO:0070182), protein binding (GO:0005515)

GO Cellular Component (7): chromatin (GO:0000785), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020), DNA repair complex (GO:1990391), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
DNA Repair	1
Transcriptional Regulation by TP53	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
protein ubiquitination	1
regulation of protein ubiquitination	1
positive regulation of protein modification by small protein conjugation or removal	1
DNA repair	1
DNA metabolic process	1
DNA damage response	1
cellular response to stress	1
nucleic acid binding	1
enzyme binding	1
binding	1
chromosome	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
catalytic complex	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1794 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FANCI	FANCD2	Q9BXW9	999
FANCI	BRIP1	Q9BX63	993
FANCI	BRCA2	P51587	988
FANCI	FANCL	Q9NW38	988
FANCI	FANCM	Q8IYD8	984
FANCI	FAN1	Q9Y2M0	982
FANCI	FANCA	O15360	974
FANCI	PALB2	Q86YC2	973
FANCI	WDR48	Q8TAF3	959
FANCI	FANCE	Q9HB96	956
FANCI	FANCC	Q00597	955
FANCI	FANCF	Q9NPI8	954
FANCI	FANCG	O15287	953
FANCI	BRCA1	P38398	952
FANCI	FANCB	Q8NB91	948

IntAct

194 interactions, top by confidence:

A	B	Type	Score
HRAS	RAF1	psi-mi:“MI:0914”(association)	0.980
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
FANCD2	FSCN1	psi-mi:“MI:0915”(physical association)	0.650
FSCN1	MLH1	psi-mi:“MI:0914”(association)	0.600
FANCI	FANCD2	psi-mi:“MI:0915”(physical association)	0.590
CTDP1	FANCI	psi-mi:“MI:0915”(physical association)	0.580
FANCI	HRAS	psi-mi:“MI:2364”(proximity)	0.570
	FANCI	psi-mi:“MI:0195”(covalent binding)	0.560
FANCI		psi-mi:“MI:0195”(covalent binding)	0.560
PRKAB2	PRKAB2	psi-mi:“MI:0914”(association)	0.550
ILK	ILVBL	psi-mi:“MI:0914”(association)	0.530
EGFR	NDUFA4	psi-mi:“MI:0914”(association)	0.530
ARRDC4	WWP2	psi-mi:“MI:0914”(association)	0.530
FAM174A	BLTP3B	psi-mi:“MI:0914”(association)	0.530
LAMP3	METTL15	psi-mi:“MI:0914”(association)	0.530
SPSB2	ARHGEF10	psi-mi:“MI:0914”(association)	0.530
SPSB4	ARHGEF10	psi-mi:“MI:0914”(association)	0.530
TGOLN2	PGRMC1	psi-mi:“MI:0914”(association)	0.420
FANCI	H2AX	psi-mi:“MI:0915”(physical association)	0.400
FANCI	FAAP20	psi-mi:“MI:0914”(association)	0.350
	CALU	psi-mi:“MI:0914”(association)	0.350

BioGRID (324): FANCI (Affinity Capture-RNA), FANCI (Affinity Capture-RNA), FANCI (Affinity Capture-MS), IMPDH2 (Co-fractionation), FANCI (Affinity Capture-MS), FANCI (Proximity Label-MS), DDOST (Affinity Capture-MS), STXBP2 (Affinity Capture-MS), PAPSS1 (Affinity Capture-MS), CIR1 (Affinity Capture-MS), DGCR8 (Affinity Capture-MS), IMPACT (Affinity Capture-MS), PRR3 (Affinity Capture-MS), DPY30 (Affinity Capture-MS), PLEKHA8 (Affinity Capture-MS)

ESM2 similar proteins: A0JMW6, A1A535, A1A5P5, A1L1L2, A1L2I9, A2BID5, A4FV45, A7Z033, F1QN74, P56695, Q08CY4, Q0KK59, Q14D04, Q2PW47, Q3UHQ6, Q568Z0, Q5FWU8, Q5JWR5, Q5PQS3, Q5SPP5, Q5U249, Q642P2, Q68F70, Q68Y81, Q6DRL5, Q6GPP1, Q6GQ26, Q6IV68, Q6NUQ4, Q6PI53, Q7SYB2, Q7Z3E5, Q7ZYV9, Q80V62, Q80X82, Q8BL99, Q8BM55, Q8CIM8, Q8JGR7, Q8K1H7

Diamond homologs: B0I564, Q8K368, Q9NVI1

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
ATM	unknown	FANCI	phosphorylation
FANCI	“form complex”	“Fanconi anemia ID complex”	binding
ATR	“up-regulates activity”	FANCI	phosphorylation
FANCL	“up-regulates activity”	FANCI	ubiquitination
“Fanconi anemia core complex”	“up-regulates activity”	FANCI	ubiquitination
USP1	“down-regulates activity”	FANCI	deubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 198 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
Downstream signal transduction	5	14.8×	1e-03
DAP12 signaling	5	14.3×	1e-03
PI3K Cascade	5	10.5×	3e-03
Regulation of RAS by GAPs	7	10.5×	6e-04
SPOP-mediated proteasomal degradation of PD-L1(CD274)	5	8.8×	5e-03
Constitutive Signaling by Aberrant PI3K in Cancer	8	7.9×	8e-04
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	9	6.8×	8e-04
MAPK6/MAPK4 signaling	6	6.3×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
peptidyl-tyrosine phosphorylation	8	20.2×	3e-06
protein autophosphorylation	12	10.4×	2e-06
learning or memory	6	8.7×	9e-03
cell surface receptor protein tyrosine kinase signaling pathway	8	8.3×	1e-03
MAPK cascade	8	7.3×	2e-03
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	14	6.6×	1e-05
positive regulation of ERK1 and ERK2 cascade	11	5.6×	1e-03
positive regulation of MAPK cascade	11	5.3×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

2541 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	114
Likely pathogenic	137
Uncertain significance	1021
Likely benign	963
Benign	117

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1072915	NM_001113378.2(FANCI):c.3469_3472dup (p.Cys1158Ter)	Pathogenic
1076349	NC_000015.9:g.(?89790873)(89876991_?)del	Pathogenic
1355539	NC_000015.9:g.(?89858493)(89860078_?)del	Pathogenic
1370524	NM_001113378.2(FANCI):c.1655_1656insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGTTTTAGGCAG (p.Ser552delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer)	Pathogenic
1410191	NM_001113378.2(FANCI):c.2346_2347insTT (p.Asp783fs)	Pathogenic
1433081	NM_001113378.2(FANCI):c.2761C>T (p.Gln921Ter)	Pathogenic
1454119	NM_001113378.2(FANCI):c.2029del (p.Trp677fs)	Pathogenic
1457441	NC_000015.9:g.(?89753516)(89838345_?)del	Pathogenic
1459135	NM_001113378.2(FANCI):c.1391C>A (p.Ser464Ter)	Pathogenic
1702568	NM_001113378.2(FANCI):c.3801_3804del (p.Ser1268fs)	Pathogenic
1960968	NM_001113378.2(FANCI):c.3520dup (p.Thr1174fs)	Pathogenic
1991478	NM_001113378.2(FANCI):c.509del (p.Asp170fs)	Pathogenic
2019263	NM_001113378.2(FANCI):c.1179T>A (p.Tyr393Ter)	Pathogenic
2051543	NM_001113378.2(FANCI):c.2413_2414del (p.Leu805fs)	Pathogenic
2064506	NM_001113378.2(FANCI):c.3184C>T (p.Gln1062Ter)	Pathogenic
2144163	NM_001113378.2(FANCI):c.632del (p.Pro211fs)	Pathogenic
2186543	NM_001113378.2(FANCI):c.2861_2862del (p.Arg954fs)	Pathogenic
238329	NM_001113378.2(FANCI):c.507G>A (p.Trp169Ter)	Pathogenic
2423730	NC_000015.9:g.(?89801915)(89802027_?)del	Pathogenic
2675639	NM_001113378.2(FANCI):c.2957_2969del (p.Val986fs)	Pathogenic
2696980	NM_001113378.2(FANCI):c.1903del (p.Tyr635fs)	Pathogenic
2702959	NM_001113378.2(FANCI):c.483dup (p.Asn162Ter)	Pathogenic
2704860	NM_001113378.2(FANCI):c.475C>T (p.Gln159Ter)	Pathogenic
2707596	NM_001113378.2(FANCI):c.2097C>A (p.Tyr699Ter)	Pathogenic
2709856	NM_001113378.2(FANCI):c.339dup (p.Ser114Ter)	Pathogenic
2713540	NM_001113378.2(FANCI):c.3530_3531insTCTG (p.Arg1178fs)	Pathogenic
2721323	NM_001113378.2(FANCI):c.244C>T (p.Gln82Ter)	Pathogenic
2724152	NM_001113378.2(FANCI):c.2134A>T (p.Arg712Ter)	Pathogenic
2729466	NM_001113378.2(FANCI):c.3849_3853del (p.Ser1284fs)	Pathogenic
2733778	NM_001113378.2(FANCI):c.2014C>T (p.Gln672Ter)	Pathogenic

SpliceAI

5854 predictions. Top by Δscore:

Variant	Effect	Δscore
15:89247627:A:AG	acceptor_gain	1.0000
15:89247628:G:GA	acceptor_gain	1.0000
15:89247628:GTT:G	acceptor_gain	1.0000
15:89247628:GTTCT:G	acceptor_gain	1.0000
15:89247727:GTGAT:G	donor_gain	1.0000
15:89258699:TGCA:T	acceptor_loss	1.0000
15:89258700:GCA:G	acceptor_loss	1.0000
15:89258701:CAGT:C	acceptor_loss	1.0000
15:89258702:A:AG	acceptor_gain	1.0000
15:89258702:AG:A	acceptor_loss	1.0000
15:89258702:AGTT:A	acceptor_gain	1.0000
15:89258703:G:A	acceptor_loss	1.0000
15:89258703:G:GG	acceptor_gain	1.0000
15:89258703:GT:G	acceptor_gain	1.0000
15:89258703:GTT:G	acceptor_gain	1.0000
15:89258703:GTTG:G	acceptor_gain	1.0000
15:89258703:GTTGA:G	acceptor_gain	1.0000
15:89258772:CAAAG:C	donor_loss	1.0000
15:89258773:AAAGG:A	donor_loss	1.0000
15:89258776:GG:G	donor_loss	1.0000
15:89258778:T:G	donor_loss	1.0000
15:89263414:A:AG	acceptor_gain	1.0000
15:89263415:C:G	acceptor_gain	1.0000
15:89263415:CCAGG:C	acceptor_loss	1.0000
15:89263417:A:AG	acceptor_gain	1.0000
15:89263417:A:G	acceptor_loss	1.0000
15:89263417:AGGT:A	acceptor_gain	1.0000
15:89263417:AGGTG:A	acceptor_gain	1.0000
15:89263418:G:GG	acceptor_gain	1.0000
15:89263418:G:GT	acceptor_loss	1.0000

AlphaMissense

8767 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:89314649:T:C	L1253P	0.998
15:89314682:T:C	L1264P	0.997
15:89314691:T:C	L1267P	0.996
15:89315324:T:C	F1287L	0.996
15:89315326:C:A	F1287L	0.996
15:89315326:C:G	F1287L	0.996
15:89307635:T:C	L1205P	0.995
15:89283159:C:A	A536E	0.993
15:89307528:T:C	L1197P	0.993
15:89315309:A:C	S1282R	0.993
15:89315311:C:A	S1282R	0.993
15:89315311:C:G	S1282R	0.993
15:89315319:G:C	R1285P	0.993
15:89306175:T:C	L1173P	0.992
15:89263420:T:A	W169R	0.991
15:89263420:T:C	W169R	0.991
15:89264007:T:C	L217P	0.991
15:89268448:G:C	G269R	0.991
15:89276754:G:C	G386R	0.991
15:89315331:T:C	I1289T	0.991
15:89276875:T:C	L426P	0.990
15:89283183:T:C	L544P	0.990
15:89292863:T:C	L723P	0.990
15:89303882:T:A	W1009R	0.990
15:89303882:T:C	W1009R	0.990
15:89276755:G:A	G386D	0.989
15:89276862:G:A	G422R	0.989
15:89276862:G:C	G422R	0.989
15:89307620:T:C	L1200P	0.989
15:89315325:T:C	F1287S	0.989

dbSNP variants (sampled 300 via entrez): RS1000070550 (15:89262947 G>C,T), RS1000079046 (15:89257369 T>C), RS1000087371 (15:89291065 G>C), RS1000109336 (15:89292128 G>T), RS1000131608 (15:89257115 C>T), RS1000160400 (15:89302511 T>C), RS1000208310 (15:89260010 C>G,T), RS1000217538 (15:89279031 C>A,T), RS1000267832 (15:89285509 C>T), RS1000299801 (15:89308628 G>A,T), RS1000329157 (15:89308347 C>T), RS1000331397 (15:89297543 G>A), RS1000354799 (15:89244053 A>C), RS1000389339 (15:89268061 T>G), RS1000487004 (15:89265355 G>A)

Disease associations

OMIM: gene MIM:611360 | disease phenotypes: MIM:227650, MIM:609053, MIM:203700, MIM:258450, MIM:603041, MIM:607459, MIM:613832, MIM:613662, MIM:157640, MIM:303350, MIM:618459, MIM:114500, MIM:613659

GenCC curated gene-disease

Disease	Classification	Inheritance
Fanconi anemia complementation group I	Definitive	Autosomal recessive
primary ovarian failure	Moderate	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 I	Definitive	AR

Mondo (17): Fanconi anemia (MONDO:0019391), Fanconi anemia complementation group I (MONDO:0012186), mitochondrial DNA depletion syndrome 4a (MONDO:0008758), progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 (MONDO:0009783), mitochondrial DNA depletion syndrome 1 (MONDO:0011283), sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (MONDO:0011835), mitochondrial DNA depletion syndrome 4b (MONDO:0013350), progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 (MONDO:0024528), Fanconi anemia complementation group A (MONDO:0009215), hereditary neoplastic syndrome (MONDO:0015356), hereditary spastic paraplegia (MONDO:0019064), immunodeficiency 62 (MONDO:0032763), microcephaly (MONDO:0001149), colorectal cancer (MONDO:0005575), breast cancer (MONDO:0007254)

Orphanet (10): Fanconi anemia (Orphanet:84), Alpers-Huttenlocher syndrome (Orphanet:726), Autosomal recessive progressive external ophthalmoplegia (Orphanet:254886), Mitochondrial neurogastrointestinal encephalomyopathy (Orphanet:298), Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (Orphanet:70595), Inherited cancer-predisposing syndrome (Orphanet:140162), Hereditary spastic paraplegia (Orphanet:685), Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency (Orphanet:696942), Progressive myoclonic epilepsy type 5 (Orphanet:402082), NON RARE IN EUROPE: Colorectal cancer (Orphanet:466667)

HPO phenotypes

140 total (30 of 140 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:0000076	Vesicoureteral reflux
HP:0000079	Abnormality of the urinary system
HP:0000083	Renal insufficiency
HP:0000085	Horseshoe kidney
HP:0000089	Renal hypoplasia
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:0000325	Triangular face
HP:0000340	Sloping forehead
HP:0000347	Micrognathia
HP:0000364	Hearing abnormality
HP:0000365	Hearing impairment
HP:0000377	Abnormal pinna morphology
HP:0000405	Conductive hearing impairment
HP:0000413	Atresia of the external auditory canal

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST002647_115	Height	2.000000e-12
GCST005312_8	Menopause (age at onset)	2.000000e-19
GCST010146_29	Serum immune biomarker levels	6.000000e-26
GCST010146_30	Serum immune biomarker levels	7.000000e-26
GCST010146_31	Serum immune biomarker levels	1.000000e-19
GCST90002404_373	Red cell distribution width	5.000000e-17

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004704	age at menopause
EFO:0004869	YKL40 measurement
EFO:0004872	inflammatory biomarker measurement
EFO:0009188	Red cell distribution width

MeSH disease descriptors (6)

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
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750
D015419	Spastic Paraplegia, Hereditary	C10.500.300.820; C10.574.500.495.820; C10.668.829.800.300.820; C16.131.666.300.820; C16.320.400.375.820
C563802	Fanconi Anemia, Complementation Group I (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067397 (SINGLE PROTEIN)

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs3087374	FANCI, POLG	3	4.00	1	valproic acid

ChEMBL bioactivities

2 potent at pChembl≥5 of 4 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.67	Kd	2127	nM	CHEMBL5653589
5.66	ED50	2203	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 4 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148369: Binding affinity to human FANCI incubated for 45 mins by Kinobead based pull down assay	kd	2.1267	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, increases abundance, increases expression, decreases expression	5
Benzo(a)pyrene	decreases expression, decreases methylation, increases expression	3
Doxorubicin	decreases expression, affects response to substance	3
Cyclosporine	affects expression, decreases expression	3
bisphenol A	decreases expression, increases expression	2
Resveratrol	affects cotreatment, increases expression	2
Arsenic	affects cotreatment, decreases expression, increases abundance, increases expression	2
Estradiol	increases expression	2
FR900359	increases phosphorylation	1
dicrotophos	decreases expression	1
lasiocarpine	increases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
N(4)-hydroxycytidine	increases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
aflatoxin B2	decreases methylation	1
coumarin	increases phosphorylation	1
beta-methylcholine	affects expression	1
avobenzone	increases expression	1
phenethyl isothiocyanate	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
corosolic acid	decreases expression	1
2-palmitoylglycerol	increases expression	1
CPG-oligonucleotide	decreases expression	1
abrine	decreases expression	1
palbociclib	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651411	Binding	Binding affinity to human FANCI incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

6 cell lines: 3 cancer cell line, 2 transformed cell line, 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_B2WZ	Abcam HEK293T FANCI KO	Transformed cell line	Female
CVCL_D0QA	YBLi006-A	Induced pluripotent stem cell	Female
CVCL_D8L4	Ubigene HCT 116 FANCI KO	Cancer cell line	Male
CVCL_DX35	HAP1 FANCI (-) XPA (-)	Cancer cell line	Male
CVCL_E1FQ	Abcam HEK293 FANCI KO	Transformed cell line	Female
CVCL_SN09	HAP1 FANCI (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00417066	PHASE4	COMPLETED	Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693	PHASE4	COMPLETED	Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501	PHASE4	UNKNOWN	Effects of ADSC Therapy in Women With POF
NCT02783937	PHASE4	COMPLETED	Filgrastim for Premature Ovarian Insufficiency
NCT03535480	PHASE4	UNKNOWN	Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT07542548	PHASE4	COMPLETED	D-Cycloserine for Serine Palmitoyltransferase Inhibition
NCT06519786	PHASE3	UNKNOWN	Safety and Efficacy of Metformin for Treatment of Cytopenia in Children and Adolescents With Fanconi Anemia
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
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
NCT00001951	PHASE2	COMPLETED	Hormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019	PHASE2	WITHDRAWN	Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494	PHASE2	COMPLETED	GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852	PHASE2	SUSPENDED	The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467	PHASE2	UNKNOWN	Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982	PHASE2	COMPLETED	The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
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
NCT03961906	PHASE2	COMPLETED	Physiotherapy in Hereditary Spastic Paraplegia
NCT04768166	PHASE2	COMPLETED	Testing Miglustat Administration in Subjects With Spastic Paraplegia 11
NCT00001399	PHASE1	COMPLETED	Gene Therapy for the Treatment of Fanconi’s Anemia Type C
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NCT00006127	PHASE1	UNKNOWN	Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi’s Anemia
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