FANCE

Summary

FANCE (FA complementation group E, HGNC:3586) is a protein-coding gene on chromosome 6p21.31, encoding Fanconi anemia group E protein (Q9HB96). As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair.

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 E.

Source: NCBI Gene 2178 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Fanconi anemia complementation group E (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 779 total — 25 pathogenic, 30 likely-pathogenic
• Phenotypes (HPO): 129
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_021922

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3586
Approved symbol	FANCE
Name	FA complementation group E
Location	6p21.31
Locus type	gene with protein product
Status	Approved
Aliases	FAE
Ensembl gene	ENSG00000112039
Ensembl biotype	protein_coding
OMIM	613976
Entrez	2178

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 15 protein_coding, 3 nonsense_mediated_decay, 3 retained_intron

ENST00000229769, ENST00000648059, ENST00000696264, ENST00000696265, ENST00000696266, ENST00000696267, ENST00000696268, ENST00000696269, ENST00000854656, ENST00000854657, ENST00000854658, ENST00000934266, ENST00000934267, ENST00000934268, ENST00000934269, ENST00000934270, ENST00000934271, ENST00000934272, ENST00000934273, ENST00000962963, ENST00000962964

RefSeq mRNA: 2 — MANE Select: NM_021922 NM_001410876, NM_021922

CCDS: CCDS4805, CCDS93899

Canonical transcript exons

ENST00000229769 — 10 exons

Exon	Start	End
ENSE00000747051	35457916	35457984
ENSE00000849631	35452338	35452793
ENSE00000849632	35455747	35456353
ENSE00000849633	35457556	35457600
ENSE00000849634	35458297	35458440
ENSE00000849635	35459331	35459454
ENSE00000849636	35459682	35459760
ENSE00000849637	35460552	35460618
ENSE00000849638	35462789	35462914
ENSE00001032057	35466244	35467102

Expression profiles

Bgee: expression breadth ubiquitous, 184 present calls, max score 87.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.5387 / max 63.2656, expressed in 1638 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
67440	5.9600	1603
67441	0.5786	282

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	87.76	silver quality
oocyte	CL:0000023	86.35	gold quality
secondary oocyte	CL:0000655	85.80	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.74	gold quality
popliteal artery	UBERON:0002250	81.42	gold quality
tibial artery	UBERON:0007610	81.38	gold quality
skin of abdomen	UBERON:0001416	81.32	gold quality
skin of leg	UBERON:0001511	81.27	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.11	gold quality
lower esophagus mucosa	UBERON:0035834	81.06	gold quality
gastrocnemius	UBERON:0001388	80.23	gold quality
muscle of leg	UBERON:0001383	80.13	gold quality
ventricular zone	UBERON:0003053	80.06	gold quality
gluteal muscle	UBERON:0002000	80.04	gold quality
zone of skin	UBERON:0000014	79.85	gold quality
hindlimb stylopod muscle	UBERON:0004252	79.62	gold quality
cortical plate	UBERON:0005343	79.55	gold quality
ganglionic eminence	UBERON:0004023	78.65	gold quality
placenta	UBERON:0001987	78.30	gold quality
muscle organ	UBERON:0001630	78.20	gold quality
tendon of biceps brachii	UBERON:0008188	78.18	gold quality
embryo	UBERON:0000922	78.10	gold quality
esophagus mucosa	UBERON:0002469	77.87	gold quality
aorta	UBERON:0000947	77.69	gold quality
vagina	UBERON:0000996	77.59	gold quality
granulocyte	CL:0000094	77.49	gold quality
stromal cell of endometrium	CL:0002255	77.27	gold quality
ectocervix	UBERON:0012249	76.78	gold quality
ovary	UBERON:0000992	75.60	gold quality
right testis	UBERON:0004534	75.52	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.06

Regulation

Is transcription factor: no

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 11)

• FANCE protein is part of the FA nuclear complex, binding FANCC & FANCD2. It is required for the nuclear accumulation of FANCC and provides a bridge between the FA complex and FANCD2. FANCC mutants do not bind FANCE or prevent chromosome breakage. (PMID:12093742)
• This Fanconi anemia protein promotes the nuclear accumulation of FANCC. (PMID:12239156)
• FANCC, FANCE, and FANCD2 form a ternary complex in the Fanconi anemia DNA damage response pathway (PMID:16127171)
• nuclear accumulation of FANCE does not rely solely on its nuclear localization signal motifs, but also on FANCC (PMID:16513431)
• Chk1-mediated phosphorylation of FANCE is required for a function independent of FANCD2 monoubiquitination. (PMID:17296736)
• Disease-associated mutations disrupt the FANCE-FANCD2 interaction, providing structural insight into the molecular mechanisms of Fanconi Anaemia pathogenesis. (PMID:17308347)
• a phenylalanine located at the highly conserved extreme C terminus, referred to as Phe-522, is a critical residue for mediating the monoubiquitination of the FANCD2-FANCI complex. (PMID:24451376)
• A novel alternative splicing event of the FANCE gene has been characterized. FANCEDelta4 cannot support the activation of the FANC-BRCA pathway and DNA repair. (PMID:26277624)
• Comprehensive analysis of macrophage-related multigene signature in the tumor microenvironment of head and neck squamous cancer. (PMID:33592580)
• Fanconi Anemia Complementation Group E, a DNA Repair-Related Gene, Is a Potential Marker of Poor Prognosis in Hepatocellular Carcinoma. (PMID:34724663)
• Histological and transcriptomic analysis of Fance-deficient PGCs reveal the possible mechanisms of their depletion. (PMID:37184052)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fance	ENSDARG00000068870
mus_musculus	Fance	ENSMUSG00000007570
rattus_norvegicus	Fance	ENSRNOG00000000504

Protein

Protein identifiers

Fanconi anemia group E protein — Q9HB96 (reviewed: Q9HB96)

All UniProt accessions (5): Q9HB96, A0A3B3ITU7, A0A8Q3SIL2, A0A8Q3WL50, A0A8Q3WMB8

UniProt curated annotations — full annotation on UniProt →

Function. As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.

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. Interacts with FANCC and FANCD2.

Subcellular location. Nucleus.

Post-translational modifications. Phosphorylated. Phosphorylation by CHEK1 at Thr-346 and Ser-374 regulates its function in DNA cross-links repair. Ubiquitinated. Phosphorylation by CHEK1 induces polyubiquitination and degradation.

Disease relevance. Fanconi anemia complementation group E (FANCE) [MIM:600901] 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.

RefSeq proteins (2): NP_001397805, NP_068741* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR021025	Fanconi_anaemia_gr_E_prot_C	Domain
IPR039685	FANCE	Family

Pfam: PF11510

UniProt features (33 total): helix 17, sequence variant 6, modified residue 3, region of interest 2, mutagenesis site 2, chain 1, compositionally biased region 1, strand 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
2ILR	X-RAY DIFFRACTION	2
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-Q9HB96-F1	76.32	0.46

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 (3): 249, 346, 374

Mutagenesis-validated functional residues (2):

Position	Phenotype
346	non-phosphorylatable by chek1, not polyubiquitinated and unable to complement the mitomycin c hypersensitivity of cells
374	non-phosphorylatable by chek1, not polyubiquitinated and unable to complement the mitomycin c hypersensitivity of cells

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: 362 (showing top): PID_FANCONI_PATHWAY, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, FISCHER_G1_S_CELL_CYCLE, KAUFFMANN_DNA_REPAIR_GENES, GOBP_OVARIAN_FOLLICLE_DEVELOPMENT, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, BLALOCK_ALZHEIMERS_DISEASE_UP, MATHEW_FANCONI_ANEMIA_GENES, GOBP_DNA_DAMAGE_RESPONSE, GOBP_FEMALE_SEX_DIFFERENTIATION, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, GOBP_INTERSTRAND_CROSS_LINK_REPAIR, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, GOBP_SEX_DIFFERENTIATION, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS

GO Biological Process (6): ovarian follicle development (GO:0001541), gene expression (GO:0010467), interstrand cross-link repair (GO:0036297), homeostasis of number of cells (GO:0048872), DNA repair (GO:0006281), DNA damage response (GO:0006974)

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

GO Cellular Component (7): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694), centrosome (GO:0005813), 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	3
female gonad development	1
anatomical structure development	1
macromolecule biosynthetic process	1
DNA repair	1
multicellular organismal-level homeostasis	1
DNA metabolic process	1
DNA damage response	1
cellular response to stress	1
binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular membraneless organelle	1
centriole	1
microtubule organizing center	1
cytoplasm	1
nuclear protein-containing complex	1

Protein interactions and networks

STRING

2701 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FANCE	FANCG	O15287	999
FANCE	FANCA	O15360	999
FANCE	FANCC	Q00597	999
FANCE	FANCB	Q8NB91	999
FANCE	FANCF	Q9NPI8	999
FANCE	FANCL	Q9NW38	999
FANCE	FANCM	Q8IYD8	998
FANCE	FAAP100	Q0VG06	996
FANCE	F6S8H2	F6S8H2	988
FANCE	FANCD2	Q9BXW9	971
FANCE	FAAP24	Q9BTP7	958
FANCE	FANCI	Q9NVI1	956
FANCE	BRIP1	Q9BX63	895
FANCE	BRCA2	P51587	862
FANCE	BRCA1	P38398	858
FANCE	PALB2	Q86YC2	858

IntAct

34 interactions, top by confidence:

A	B	Type	Score
FANCC	FANCE	psi-mi:“MI:0915”(physical association)	0.780
FANCE	FANCC	psi-mi:“MI:0915”(physical association)	0.780
FANCC	FANCA	psi-mi:“MI:0914”(association)	0.680
FANCE	FANCD2	psi-mi:“MI:0915”(physical association)	0.620
FANCD2	FANCE	psi-mi:“MI:0915”(physical association)	0.620
FANCE	AKT1	psi-mi:“MI:0915”(physical association)	0.610
FANCE	AKT1	psi-mi:“MI:2364”(proximity)	0.610
AKT1	FANCE	psi-mi:“MI:0915”(physical association)	0.610
FAAP20	FANCA	psi-mi:“MI:0914”(association)	0.590
FANCE	ENPP1	psi-mi:“MI:0914”(association)	0.530
Erh	BCLAF3	psi-mi:“MI:0915”(physical association)	0.400
Fancc	FAAP100	psi-mi:“MI:0915”(physical association)	0.400
SLC45A3	FANCE	psi-mi:“MI:0915”(physical association)	0.400
FANCE	FANCD2	psi-mi:“MI:0915”(physical association)	0.370
FANCM	FANCC	psi-mi:“MI:0914”(association)	0.350
FANCE	GNPAT	psi-mi:“MI:0914”(association)	0.350
GPC1	ATP2B4	psi-mi:“MI:0914”(association)	0.350
FANCE	FANCG	psi-mi:“MI:0914”(association)	0.350
BRCA1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
FANCE	SMARCA4	psi-mi:“MI:2364”(proximity)	0.270
SMARCA4	FANCE	psi-mi:“MI:2364”(proximity)	0.270
SPOP	FANCE	psi-mi:“MI:2364”(proximity)	0.270
FANCE	EGFR	psi-mi:“MI:2364”(proximity)	0.270
PTEN	FANCE	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (122): FANCE (Affinity Capture-MS), FANCE (Affinity Capture-Western), FANCE (Affinity Capture-Western), FANCE (Affinity Capture-MS), FANCE (Affinity Capture-MS), FANCE (Affinity Capture-MS), FANCE (Affinity Capture-MS), FANCE (Affinity Capture-Western), FANCE (Affinity Capture-Western), FANCC (Affinity Capture-Western), FANCE (Affinity Capture-Western), FANCE (Affinity Capture-Western), FANCE (Affinity Capture-Western), FANCE (Affinity Capture-MS), RAB21 (Affinity Capture-MS)

ESM2 similar proteins: A0JN53, A1L3T7, C9JE40, D2I4M3, G3HQ82, O43299, O75800, O94812, P58660, Q0P5G1, Q15572, Q1RMI8, Q1W1Y5, Q3T1I9, Q3U829, Q56B11, Q571B6, Q58CQ5, Q5ND34, Q5R8S0, Q66H85, Q6NZL6, Q6ZNJ1, Q6ZQA0, Q76MJ5, Q80TE0, Q80UU1, Q80UW5, Q8BGI5, Q8BMG1, Q8C3R1, Q8C3S2, Q8C7B8, Q8CE13, Q8IZL8, Q8N163, Q8VDP4, Q8WXE1, Q96HA7, Q9BQG0

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
CHEK1	up-regulates	FANCE	phosphorylation
FANCE	“form complex”	“Fanconi anemia core complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 25 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	7	92.8×	2e-10
PKR-mediated signaling	7	47.0×	1e-08

GO biological processes:

GO term	Partners	Fold	FDR
interstrand cross-link repair	7	131.5×	3e-11

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	25
Likely pathogenic	30
Uncertain significance	339
Likely benign	282
Benign	21

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1076390	NM_021922.3(FANCE):c.1141_1144del (p.Arg381fs)	Pathogenic
1322887	NM_021922.3(FANCE):c.334del (p.Ser112fs)	Pathogenic
2120238	NM_021922.3(FANCE):c.396G>A (p.Trp132Ter)	Pathogenic
2675546	NM_021922.3(FANCE):c.1222C>T (p.Gln408Ter)	Pathogenic
2714503	NM_021922.3(FANCE):c.209del (p.Glu70fs)	Pathogenic
2766431	NM_021922.3(FANCE):c.753_756dup (p.Asp253Ter)	Pathogenic
2811601	NM_021922.3(FANCE):c.1248_1251del (p.Thr417fs)	Pathogenic
2835298	NM_021922.3(FANCE):c.931dup (p.Val311fs)	Pathogenic
2895459	NM_021922.3(FANCE):c.614_615del (p.Glu205fs)	Pathogenic
2902359	NM_021922.3(FANCE):c.1003C>T (p.Gln335Ter)	Pathogenic
2992250	NM_021922.3(FANCE):c.518dup (p.Arg176fs)	Pathogenic
3004167	NM_021922.3(FANCE):c.879_880insT (p.Leu294fs)	Pathogenic
3008631	NM_021922.3(FANCE):c.1363C>T (p.Gln455Ter)	Pathogenic
3021048	NM_021922.3(FANCE):c.914T>A (p.Leu305Ter)	Pathogenic
3246025	NC_000006.11:g.(?35420323)(35420590_?)del	Pathogenic
3609685	NM_021922.3(FANCE):c.1417dup (p.Met473fs)	Pathogenic
3689447	NM_021922.3(FANCE):c.562del (p.Glu188fs)	Pathogenic
3729013	NM_021922.3(FANCE):c.560_568delinsGGACTCCAGACCC (p.Glu187fs)	Pathogenic
4721641	NM_021922.3(FANCE):c.681del (p.Asp228fs)	Pathogenic
4735328	NM_021922.3(FANCE):c.205del (p.Arg69fs)	Pathogenic
8709	NM_021922.3(FANCE):c.355C>T (p.Gln119Ter)	Pathogenic
929569	NM_021922.3(FANCE):c.91C>T (p.Gln31Ter)	Pathogenic
929573	NM_021922.3(FANCE):c.436del (p.Val146fs)	Pathogenic
963477	NM_021922.3(FANCE):c.967C>T (p.Gln323Ter)	Pathogenic
969361	NM_021922.3(FANCE):c.1114-3_1115delinsGGCA	Pathogenic
1066481	NM_021922.3(FANCE):c.1113+1G>A	Likely pathogenic
1066582	NM_021922.3(FANCE):c.248+1del	Likely pathogenic
1067460	NC_000006.11:g.(?_35423579)_35424285del	Likely pathogenic
1324382	NM_021922.3(FANCE):c.1238-1G>C	Likely pathogenic
1514119	NM_021922.3(FANCE):c.304_855+155delinsGGACTCCCAGGGAG	Likely pathogenic

SpliceAI

1832 predictions. Top by Δscore:

Variant	Effect	Δscore
6:35452789:GAGCT:G	donor_gain	1.0000
6:35452791:GCT:G	donor_gain	1.0000
6:35452794:G:GG	donor_gain	1.0000
6:35457670:G:GT	donor_gain	1.0000
6:35457671:A:T	donor_gain	1.0000
6:35457914:AGG:A	acceptor_gain	1.0000
6:35457915:GGG:G	acceptor_gain	1.0000
6:35458284:A:AG	acceptor_gain	1.0000
6:35462787:A:AG	acceptor_gain	1.0000
6:35462788:G:GG	acceptor_gain	1.0000
6:35462909:GC:G	donor_gain	1.0000
6:35462910:CTAAC:C	donor_gain	1.0000
6:35462912:AACG:A	donor_loss	1.0000
6:35462913:ACGTG:A	donor_loss	1.0000
6:35462914:CGTGA:C	donor_loss	1.0000
6:35462915:G:C	donor_loss	1.0000
6:35462915:G:GG	donor_gain	1.0000
6:35462916:T:TA	donor_loss	1.0000
6:35462917:G:GT	donor_loss	1.0000
6:35462918:AGT:A	donor_loss	1.0000
6:35462919:G:C	donor_loss	1.0000
6:35455830:A:T	donor_gain	0.9900
6:35456235:G:GT	donor_gain	0.9900
6:35456274:T:G	donor_gain	0.9900
6:35456351:CAGG:C	donor_loss	0.9900
6:35456353:G:GT	donor_loss	0.9900
6:35456354:G:T	donor_loss	0.9900
6:35456355:T:C	donor_loss	0.9900
6:35457598:G:GT	donor_gain	0.9900
6:35457670:G:T	donor_gain	0.9900

AlphaMissense

3408 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:35455789:C:A	N97K	0.967
6:35455789:C:G	N97K	0.967
6:35466298:T:C	F522L	0.963
6:35466300:C:A	F522L	0.963
6:35466300:C:G	F522L	0.963
6:35460571:T:A	W446R	0.954
6:35460571:T:C	W446R	0.954
6:35455791:T:C	L98P	0.953
6:35452660:G:T	G39W	0.951
6:35452672:G:C	G43R	0.950
6:35458430:T:C	F368S	0.949
6:35458393:A:C	S356R	0.948
6:35458395:C:A	S356R	0.948
6:35458395:C:G	S356R	0.948
6:35452660:G:A	G39R	0.947
6:35452660:G:C	G39R	0.947
6:35455892:T:A	W132R	0.947
6:35455892:T:C	W132R	0.947
6:35455800:T:C	L101P	0.942
6:35462880:T:C	L492P	0.942
6:35452673:G:A	G43D	0.932
6:35458429:T:C	F368L	0.931
6:35458431:T:A	F368L	0.931
6:35458431:T:G	F368L	0.931
6:35459386:T:C	F390S	0.928
6:35459385:T:C	F390L	0.923
6:35459387:C:A	F390L	0.923
6:35459387:C:G	F390L	0.923
6:35455767:T:C	L90S	0.921
6:35455788:A:T	N97I	0.920

dbSNP variants (sampled 300 via entrez): RS1000026054 (6:35465323 G>A), RS1000086717 (6:35452137 G>C,T), RS1000252213 (6:35462130 C>A,T), RS1000286002 (6:35458208 C>T), RS1000854941 (6:35451291 C>G,T), RS1000988608 (6:35456740 C>T), RS1000993811 (6:35463405 G>A), RS1001240331 (6:35450944 C>A,T), RS1001281400 (6:35459008 T>G), RS1001644486 (6:35458722 C>A), RS1001827078 (6:35465247 C>G,T), RS1001886928 (6:35452484 C>A,T), RS1001927737 (6:35467547 A>C,G), RS1002202388 (6:35460618 G>A), RS1002310269 (6:35462693 T>A,C)

Disease associations

OMIM: gene MIM:613976 | disease phenotypes: MIM:600901, MIM:227650, MIM:167000, MIM:258040, MIM:105650

GenCC curated gene-disease

Disease	Classification	Inheritance
Fanconi anemia complementation group E	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 E	Definitive	AR

Mondo (11): Fanconi anemia complementation group E (MONDO:0010953), Fanconi anemia (MONDO:0019391), ovarian cancer (MONDO:0008170), exstrophy-epispadias complex (MONDO:0017919), hereditary neoplastic syndrome (MONDO:0015356), colon carcinoma (MONDO:0002032), breast cancer (MONDO:0007254), Diamond-Blackfan anemia (MONDO:0015253), exocrine pancreatic carcinoma (MONDO:0005192), microcephaly (MONDO:0001149), hereditary breast ovarian cancer syndrome (MONDO:0003582)

Orphanet (9): Fanconi anemia (Orphanet:84), Rare ovarian cancer (Orphanet:213500), Exstrophy-epispadias complex (Orphanet:322), Cloacal exstrophy (Orphanet:93929), Inherited cancer-predisposing syndrome (Orphanet:140162), Diamond-Blackfan anemia (Orphanet:124), Familial pancreatic carcinoma (Orphanet:1333), Rare carcinoma of pancreas (Orphanet:217074), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145)

HPO phenotypes

129 total (30 of 129 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

3 associations (top):

Study	Trait	p-value
GCST001784_41	Pulmonary function (smoking interaction)	5.000000e-07
GCST007239_11	Ovarian cancer	2.000000e-06
GCST008163_39	Height	5.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0003892	pulmonary function measurement
EFO:0004713	FEV/FVC ratio

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D029503	Anemia, Diamond-Blackfan	C15.378.050.085.080.090; C15.378.050.750.500; C15.378.190.223.500.500.090; C16.320.077.090
D005199	Fanconi Anemia	C15.378.050.085.080.280; C15.378.190.223.500.500.280; C16.320.077.280; C18.452.284.280
D061325	Hereditary Breast and Ovarian Cancer Syndrome	C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431
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
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

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	2
abemaciclib	decreases expression	1
FR900359	decreases phosphorylation	1
bisphenol A	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
zinc chromate	increases abundance, decreases expression	1
coumarin	increases phosphorylation	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
4(2’-aminoethyl)amino-1,8-dimethylimidazo(1,2-a)quinoxaline	decreases expression	1
abrine	decreases expression	1
palbociclib	decreases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	decreases phosphorylation	1
Calcitriol	decreases expression, affects cotreatment	1
Diazinon	increases methylation	1
Estradiol	affects cotreatment, decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Hydrogen Peroxide	affects expression	1
Lipopolysaccharides	decreases expression, affects cotreatment	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1
Rotenone	increases expression	1
Testosterone	affects cotreatment, decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SN06	HAP1 FANCE (-) 1	Cancer cell line	Male
CVCL_SN07	HAP1 FANCE (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05840445	PHASE4	COMPLETED	Efficacy of Prabotulinum and Onabotulinum Toxin-A for Facial Wrinkles
NCT00190697	PHASE4	COMPLETED	A Study of LY353381 (Arzoxifene) for Patients Who Benefitted From This Drug in Other Oncology Trials and Wished to Continue Treatment
NCT00277160	PHASE4	COMPLETED	A Study of Primary Prophylaxis With Neulasta (Pegfilgrastim) Versus Secondary Prophylaxis After Chemotherapy in Elderly Subjects (>/= 65 Years Old) With Cancer
NCT00727961	PHASE4	COMPLETED	A Study to Evaluate Efficacy and Tolerance of Caelyx in Patients With Epithelial Ovarian Cancer. (Study P04072)(COMPLETED)
NCT00740116	PHASE4	COMPLETED	Tranexamic Acid in Surgery of Advanced Ovarian Cancer
NCT00817479	PHASE4	COMPLETED	Tumor Gene Expression in Women With Ovarian Cancer
NCT01432015	PHASE4	COMPLETED	Fosaprepitant Versus Aprepitant in the Prevention of Chemotherapy Induced Nausea and Vomiting
NCT01706120	PHASE4	UNKNOWN	Study of Clinical and Biological Prognostic Factors in Patients With Ovarian Cancer Receiving Carboplatin +Paclitaxel With Bevacizumab
NCT01932125	PHASE4	COMPLETED	An Interventional Study of Avastin (Bevacizumab) in Patients With Advanced/Metastatic Epithelial Ovarian Cancer, Fallopian Tube Cancer or Primary Peritoneal Cancer
NCT01953107	PHASE4	COMPLETED	Oral Iron vs. Placebo in Newly Diagnosed Gynecologic Oncology Patients Who Are Surgical Candidates.
NCT02035345	PHASE4	TERMINATED	Slowed Carboplatin Infusion for Ovarian Cancer Patients Receiving Carboplatin Re-Treatment
NCT02243059	PHASE4	WITHDRAWN	Magnetic Resonance Imaging for Lymph Node Staging in Ovarian Cancer
NCT03164980	PHASE4	TERMINATED	QoL-Comparison Between Trabectedin/PLD and Pt-based Therapy in Patients With Pt-sensitive Recurrent Ovarian Cancer
NCT03384511	PHASE4	COMPLETED	The Use of 18F-ALF-NOTA-PRGD2 PET/CT Scan to Predict the Efficacy and Adverse Events of Apatinib in Malignancies.
NCT03543462	PHASE4	COMPLETED	Diaphragmatic Resection And Gynecological Ovarian Neoplasm
NCT03752216	PHASE4	COMPLETED	NIraparib and Quality of LifE is a Longitudinal Study Evaluating in Real Life the Tolerability of Niraparib.
NCT03858166	PHASE4	TERMINATED	Efficacy and Safety of PEG-rhG-CSF Secondary Prophylaxis vs. Therapeutic Administration in Patients With Ovarian Cancer
NCT04024254	PHASE4	COMPLETED	A Study of Serum Folate Levels in Patients Treated With Olaparib
NCT04330040	PHASE4	COMPLETED	Prospective Multicentre Phase-IV Clinical Trial of Olaparib in Indian Patients With Ovarian and Metastatic Breast Cancer
NCT04352439	PHASE4	COMPLETED	Aspirin for Prevention of Venous Thromboembolism Among Ovarian Cancer Patients Receiving Neoadjuvant Chemotherapy
NCT05187208	PHASE4	UNKNOWN	PARP Inhibitor Oral Maintenance in Low-Risk Ovarian Cancer
NCT05606692	PHASE4	RECRUITING	Influences of Propofol and Sevoflurane Anesthesia in Ovarian Cancer (Anesthetics)
NCT05926336	PHASE4	RECRUITING	The Effects of Using Different Anesthetics on the Prognosis of Primary Tumors and Its Mechanism of Action
NCT06412120	PHASE4	RECRUITING	Study Evaluating Safety, Tolerability, and Metabolism of Niraparib
NCT06871787	PHASE4	NOT_YET_RECRUITING	Near-Infrared Fluorescence Imaging With Indocyanine Green to Evaluate Bowel Anastomoses in Gynecologic Oncology Surgery
NCT06887933	PHASE4	NOT_YET_RECRUITING	A Trial to Evaluate the Safety of Niraparib Tablets in Adult Female Participants With Advanced or Relapsed Epithelial Ovarian Cancer
NCT07469202	PHASE4	NOT_YET_RECRUITING	CYTALUX Dose Extension Study
NCT06519786	PHASE3	UNKNOWN	Safety and Efficacy of Metformin for Treatment of Cytopenia in Children and Adolescents With Fanconi Anemia
NCT00001806	PHASE3	COMPLETED	Methods in Education for Breast Cancer Genetics
NCT00002477	PHASE3	UNKNOWN	Adjuvant Chemotherapy Compared With Observation in Treating Patients With Resected Early Stage Ovarian Epithelial Cancer
NCT00002568	PHASE3	COMPLETED	Combination Chemotherapy With or Without Surgery in Treating Patients With Stage III Ovarian Epithelial Cancer
NCT00002641	PHASE3	COMPLETED	Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma
NCT00002717	PHASE3	COMPLETED	Paclitaxel and Cisplatin in Treating Patients With Stage III or Stage IV Ovarian Cancer or Primary Peritoneal Cancer
NCT00002764	PHASE3	COMPLETED	Surgery With or Without Combination Chemotherapy in Treating Patients With Lung Metastases From Soft Tissue Sarcoma
NCT00002819	PHASE3	TERMINATED	Chemotherapy With or Without Peripheral Stem Cell Transplantation in Treating Patients With Persistent Ovarian Epithelial Cancer
NCT00002894	PHASE3	COMPLETED	Platinum-based Chemotherapy With or Without Paclitaxel in Treating Patients With Relapsed Ovarian Cancer
NCT00002895	PHASE3	COMPLETED	Early Chemotherapy Based on CA 125 Level Alone Compared With Delayed Chemotherapy in Treating Patients With Recurrent Ovarian Epithelial , Fallopian Tube, or Primary Peritoneal Cancer
NCT00003120	PHASE3	COMPLETED	S9701 Paclitaxel in Treating Patients With Advanced Ovarian, Fallopian Tube, or Primary Peritoneal Cancer in Remission
NCT00003214	PHASE3	COMPLETED	Chemosensitivity Testing to Assign Treatment for Patients With Stage III or Stage IV Ovarian Cancer
NCT00003322	PHASE3	COMPLETED	Combination Chemotherapy in Treating Patients With Primary Peritoneal or Stage III Epithelial Ovarian Cancer