FANCB

Summary

FANCB (FA complementation group B, HGNC:3583) is a protein-coding gene on chromosome Xp22.2, encoding Fanconi anemia group B protein (Q8NB91). DNA repair protein required for FANCD2 ubiquitination. It is haploinsufficient (ClinGen: sufficient evidence).

This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus.

Source: NCBI Gene 2187 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Fanconi anemia complementation group B (Definitive, ClinGen) — +3 more curated relationships
• Clinical variants (ClinVar): 877 total — 29 pathogenic, 7 likely-pathogenic
• Phenotypes (HPO): 167
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_001018113

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3583
Approved symbol	FANCB
Name	FA complementation group B
Location	Xp22.2
Locus type	gene with protein product
Status	Approved
Aliases	FAB, FLJ34064, FAAP95
Ensembl gene	ENSG00000181544
Ensembl biotype	protein_coding
OMIM	300515
Entrez	2187

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 11 protein_coding, 6 nonsense_mediated_decay, 2 retained_intron

ENST00000324138, ENST00000452869, ENST00000489126, ENST00000643728, ENST00000646255, ENST00000650831, ENST00000696311, ENST00000696312, ENST00000696313, ENST00000696322, ENST00000696323, ENST00000696351, ENST00000696352, ENST00000696353, ENST00000696354, ENST00000696355, ENST00000696356, ENST00000696357, ENST00000918434

RefSeq mRNA: 4 — MANE Select: NM_001018113 NM_001018113, NM_001324162, NM_001410764, NM_152633

CCDS: CCDS14161, CCDS94554

Canonical transcript exons

ENST00000650831 — 10 exons

Exon	Start	End
ENSE00001830343	14872986	14873069
ENSE00003814774	14850505	14850674
ENSE00003816179	14844856	14845286
ENSE00003816583	14859182	14859334
ENSE00003816604	14844503	14844740
ENSE00003820343	14843405	14843981
ENSE00003820710	14853039	14853167
ENSE00003825397	14857862	14857954
ENSE00003891693	14864560	14865580
ENSE00003967113	14868923	14869043

Expression profiles

Bgee: expression breadth ubiquitous, 160 present calls, max score 85.15.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.8393 / max 110.7990, expressed in 1125 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
198510	3.5953	1089
198511	0.2439	97

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.15	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.43	gold quality
buccal mucosa cell	CL:0002336	78.74	gold quality
medial globus pallidus	UBERON:0002477	77.67	gold quality
ventricular zone	UBERON:0003053	73.70	gold quality
bone marrow cell	CL:0002092	71.55	gold quality
ganglionic eminence	UBERON:0004023	70.43	gold quality
stromal cell of endometrium	CL:0002255	70.37	gold quality
globus pallidus	UBERON:0001875	69.91	gold quality
monocyte	CL:0000576	69.11	gold quality
leukocyte	CL:0000738	69.05	gold quality
secondary oocyte	CL:0000655	68.66	silver quality
calcaneal tendon	UBERON:0003701	68.56	gold quality
corpus callosum	UBERON:0002336	68.40	gold quality
granulocyte	CL:0000094	67.29	gold quality
adrenal tissue	UBERON:0018303	65.72	gold quality
vermiform appendix	UBERON:0001154	64.55	gold quality
bone marrow	UBERON:0002371	63.83	gold quality
lymph node	UBERON:0000029	63.06	gold quality
cortical plate	UBERON:0005343	61.81	gold quality
rectum	UBERON:0001052	61.76	gold quality
islet of Langerhans	UBERON:0000006	59.92	gold quality
sural nerve	UBERON:0015488	59.58	silver quality
caecum	UBERON:0001153	59.26	gold quality
tonsil	UBERON:0002372	58.97	gold quality
tibial nerve	UBERON:0001323	58.43	gold quality
tendon	UBERON:0000043	58.40	gold quality
smooth muscle tissue	UBERON:0001135	58.09	gold quality
esophagus mucosa	UBERON:0002469	58.02	gold quality
endometrium	UBERON:0001295	56.66	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.83

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting FANCB, 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-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-548O-3P	99.74	69.30	2228
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-2113	99.58	71.22	1521
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-4695-5P	99.06	64.87	1151
HSA-MIR-7109-3P	94.23	67.19	743

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 11)

• the protein defective in individuals with Fanconi anemia belonging to complementation group B is an essential component of the nuclear protein ‘core complex’ responsible for monoubiquitination of FANCD2 (PMID:15502827)
• summary of recent advances in the Fanconi anemia-BRCA network with emphasis on the new discovery of FAAP95 as the true FANCB gene [review] (PMID:15611632)
• Mutations in FANCB are a cause of X linked VACTERL-H syndrome. (PMID:16679491)
• Mus81 and FANCB have different roles in repair of DNA damage during replication in human cells (PMID:17903171)
• Our results rule out a major contribution of FANCB to hereditary breast cancer. (PMID:18302019)
• Inactivation of FancB may play a role in the pathogenesis of sporadic HNSCC. (PMID:20332657)
• Elevated serum FA-2 was associated with bony metastases from breast cancer. (PMID:20465790)
• Loss-of-function FANCB mutations result in a recognizable, multiple malformation phenotype in hemizygous males for which we propose clinical criteria to aid diagnosis. (PMID:21910217)
• We identified a 9154 bp intragenic duplication in FANCB, covering the first coding exon 3 and the flanking regions. The duplicated allele gives rise to an aberrant transcript containing exon 3 duplication, predicted to introduce a stop codon in FANCB protein (p.A319*). (PMID:29193904)
• Four single nucleotide polymorphisms were identified, three of which were located in untranslated regions of Fanconi anemia group B protein (FANCB) and predicted to be associated with normal function. (PMID:29491055)
• [Association of CDH1, FANCB and APC Gene Polymorphisms with Lung Cancer Susceptibility in Chinese Population]. (PMID:36172730)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fancb	ENSDARG00000067596
mus_musculus	Fancb	ENSMUSG00000047757
rattus_norvegicus	Fancb	ENSRNOG00000003346

Protein

Protein identifiers

Fanconi anemia group B protein — Q8NB91 (reviewed: Q8NB91)

Alternative names: Fanconi anemia-associated polypeptide of 95 kDa

All UniProt accessions (9): A0A2R8YDV8, A0A8Q3SIN2, Q8NB91, A0A8Q3SJA8, A0A8Q3WL55, A0A8Q3WL61, A0A8Q3WL66, A0A8Q3WLR5, C9J5X9

UniProt curated annotations — full annotation on UniProt →

Function. DNA repair protein required for FANCD2 ubiquitination.

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.

Subcellular location. Nucleus.

Disease relevance. Fanconi anemia complementation group B (FANCB) [MIM:300514] 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. Some severe FANCB cases manifest features of VACTERL syndrome with hydrocephalus. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (4): NP_001018123, NP_001311091, NP_001397693, NP_689846 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR033333	FANCB	Family

UniProt features (4 total): initiator methionine 1, chain 1, modified residue 1, sequence variant 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-Q8NB91-F1	71.31	0.17

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): 2

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: 447 (showing top): PID_FANCONI_PATHWAY, AHRARNT_01, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_REGULATION_OF_DNA_RECOMBINATION, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_NEGATIVE_REGULATION_OF_DNA_REPAIR, GOBP_NEGATIVE_REGULATION_OF_DNA_RECOMBINATION, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR_VIA_HOMOLOGOUS_RECOMBINATION, KAUFFMANN_DNA_REPAIR_GENES, GOBP_REGULATION_OF_DNA_REPAIR, MATHEW_FANCONI_ANEMIA_GENES, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_DNA_DAMAGE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_DNA_REPAIR, GOBP_INTERSTRAND_CROSS_LINK_REPAIR

GO Biological Process (6): interstrand cross-link repair (GO:0036297), positive regulation of double-strand break repair via homologous recombination (GO:1905168), replication-born double-strand break repair via sister chromatid exchange (GO:1990414), negative regulation of double-strand break repair via homologous recombination (GO:2000042), DNA repair (GO:0006281), DNA damage response (GO:0006974)

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

GO Cellular Component (5): chromatin (GO:0000785), nucleoplasm (GO:0005654), cytosol (GO:0005829), Fanconi anaemia nuclear complex (GO:0043240), nucleus (GO:0005634)

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
double-strand break repair via homologous recombination	3
cellular anatomical structure	3
regulation of double-strand break repair via homologous recombination	2
DNA repair	1
positive regulation of DNA recombination	1
positive regulation of double-strand break repair	1
negative regulation of DNA recombination	1
negative regulation of double-strand break repair	1
DNA metabolic process	1
DNA damage response	1
cellular response to stress	1
binding	1
chromosome	1
nuclear lumen	1
cytoplasm	1
nuclear protein-containing complex	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1003 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FANCB	FANCE	Q9HB96	999
FANCB	FANCM	Q8IYD8	999
FANCB	FANCF	Q9NPI8	999
FANCB	FAAP100	Q0VG06	999
FANCB	FANCG	O15287	999
FANCB	FANCA	O15360	999
FANCB	FANCL	Q9NW38	999
FANCB	FANCC	Q00597	998
FANCB	FAAP24	Q9BTP7	990
FANCB	F6S8H2	F6S8H2	987
FANCB	FANCI	Q9NVI1	948
FANCB	FANCD2	Q9BXW9	946
FANCB	BRIP1	Q9BX63	917
FANCB	BRCA2	P51587	891
FANCB	PALB2	Q86YC2	858

IntAct

33 interactions, top by confidence:

A	B	Type	Score
FANCA	FANCG	psi-mi:“MI:0914”(association)	0.960
FANCG	FANCA	psi-mi:“MI:0914”(association)	0.960
FANCC	FANCA	psi-mi:“MI:0914”(association)	0.680
FANCA	FAAP100	psi-mi:“MI:0914”(association)	0.660
PSMB3	PSMD11	psi-mi:“MI:0914”(association)	0.640
DNAJC7	PLD2	psi-mi:“MI:0914”(association)	0.640
FAAP100	FANCB	psi-mi:“MI:0915”(physical association)	0.560
UBE2T	FAAP100	psi-mi:“MI:0914”(association)	0.530
CYCS	FAAP100	psi-mi:“MI:0914”(association)	0.530
FANCB	FANCG	psi-mi:“MI:0914”(association)	0.530
PPP1R7	CCDC85C	psi-mi:“MI:0914”(association)	0.510
Fancc	FAAP100	psi-mi:“MI:0915”(physical association)	0.400
FANCB	CFTR	psi-mi:“MI:0915”(physical association)	0.370
Faap100	CDKN2A	psi-mi:“MI:0914”(association)	0.350
FANCM	FANCG	psi-mi:“MI:0914”(association)	0.350
FAAP24	FANCG	psi-mi:“MI:0914”(association)	0.350
THBS3	APBB1	psi-mi:“MI:0914”(association)	0.350
IL6R	MID1	psi-mi:“MI:0914”(association)	0.350
rep	TMEM120B	psi-mi:“MI:0914”(association)	0.350
PTGES3	SBNO1	psi-mi:“MI:0914”(association)	0.350
DNAJA2	DENND11	psi-mi:“MI:0914”(association)	0.350
CYCS	ALDH1A1	psi-mi:“MI:0914”(association)	0.350
UBE2T	RPL35A	psi-mi:“MI:0914”(association)	0.350
FAAP100	FANCM	psi-mi:“MI:0914”(association)	0.350

BioGRID (61): FANCB (Affinity Capture-MS), FANCB (Affinity Capture-MS), FANCB (Affinity Capture-MS), FANCB (Affinity Capture-MS), FANCB (Affinity Capture-MS), FANCB (Affinity Capture-MS), FANCB (Affinity Capture-MS), FANCB (Affinity Capture-MS), FANCB (Affinity Capture-MS), FANCB (Affinity Capture-MS), FANCB (Affinity Capture-MS), PPP1R7 (Affinity Capture-MS), FANCB (Reconstituted Complex), FANCA (Affinity Capture-Western), C17orf70 (Affinity Capture-Western)

ESM2 similar proteins: A0A571BF63, A1L0Z4, A1ZAG4, A4IF93, A4QP31, A5HEI1, D3IUT5, F4JS25, F4KCC2, F6S215, O00443, O65418, Q08AV6, Q0JF48, Q4R6I5, Q5FVR8, Q5Q0E6, Q5RAY1, Q5RD58, Q5TEA3, Q5ZKT1, Q61194, Q61QK6, Q640P7, Q69KN0, Q6DRD4, Q7TT23, Q7XZU2, Q8BMQ2, Q8C6S9, Q8GYU3, Q8H1U4, Q8L6Y4, Q8LLD0, Q8N957, Q8NB91, Q8NHS4, Q8RWM3, Q96N23, Q9FFF9

Diamond homologs: Q5XJY6, Q8NB91

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
FANCB	“form complex”	“Fanconi anemia core complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 32 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	84.8×	3e-10
PKR-mediated signaling	6	36.8×	1e-06

GO biological processes:

GO term	Partners	Fold	FDR
interstrand cross-link repair	6	96.0×	7e-09
DNA repair	5	11.8×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	29
Likely pathogenic	7
Uncertain significance	387
Likely benign	255
Benign	47

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
10867	FANCB, 3314-BP DEL	Pathogenic
10870	NM_001018113.3(FANCB):c.1496+5G>A	Pathogenic
1391114	NM_001018113.3(FANCB):c.1437G>A (p.Trp479Ter)	Pathogenic
1526761	GRCh37/hg19 Xp22.2(chrX:14878636-14942042)	Pathogenic
1686860	NM_002063.4(GLRA2):c.1049G>T (p.Arg350Leu)	Pathogenic
2423478	NC_000023.10:g.(?14861689)(14891184_?)del	Pathogenic
2423479	NC_000023.10:g.(?14875974)(14891184_?)del	Pathogenic
2742713	NM_001018113.3(FANCB):c.455_458del (p.Phe152fs)	Pathogenic
2833974	NM_001018113.3(FANCB):c.1159_1162dup (p.Tyr388fs)	Pathogenic
37043	NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter)	Pathogenic
37044	NM_001018113.3(FANCB):c.1857_1858del (p.Arg619fs)	Pathogenic
4085969	NM_001018113.3(FANCB):c.101del (p.Asp34fs)	Pathogenic
419268	NM_001018113.3(FANCB):c.1695_1698del (p.Cys566fs)	Pathogenic
562389	NM_001018113.3(FANCB):c.1668del (p.Asp557fs)	Pathogenic
691295	NM_001018113.1(FANCB):c.(?-268)(*160_?)del	Pathogenic
691298	NM_001018113.3(FANCB):c.128T>C (p.Leu43Ser)	Pathogenic
691299	NM_001018113.3(FANCB):c.195dup (p.Thr66fs)	Pathogenic
691300	NM_001018113.3(FANCB):c.755_767del (p.Leu252fs)	Pathogenic
691301	NM_001018113.3(FANCB):c.829dup (p.Cys277fs)	Pathogenic
691302	NM_001018113.3(FANCB):c.949C>T (p.Gln317Ter)	Pathogenic
691304	NM_001018113.3(FANCB):c.986T>C (p.Leu329Pro)	Pathogenic
691305	NM_001018113.3(FANCB):c.1103C>A (p.Ser368Ter)	Pathogenic
691306	NM_001018113.3(FANCB):c.1497_2580del (p.Ser500fs)	Pathogenic
691307	NM_001018113.3(FANCB):c.1811_1814del (p.Arg604fs)	Pathogenic
691308	NM_001018113.3(FANCB):c.1856_1857insT (p.Arg619fs)	Pathogenic
691311	NM_001018113.3(FANCB):c.2165+1G>T	Pathogenic
691314	NM_001018113.3(FANCB):c.2172_2175del (p.Thr725fs)	Pathogenic
691316	NM_001018113.3(FANCB):c.2249_2252del (p.Gly750fs)	Pathogenic
816622	GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1	Pathogenic
1334411	NM_002063.4(GLRA2):c.1334G>A (p.Arg445Gln)	Likely pathogenic

SpliceAI

2071 predictions. Top by Δscore:

Variant	Effect	Δscore
X:14690705:CTCA:C	acceptor_loss	1.0000
X:14690708:A:AG	acceptor_gain	1.0000
X:14690708:AG:A	acceptor_gain	1.0000
X:14690709:G:GC	acceptor_loss	1.0000
X:14690709:G:GT	acceptor_gain	1.0000
X:14690709:GG:G	acceptor_gain	1.0000
X:14690709:GGT:G	acceptor_gain	1.0000
X:14690709:GGTC:G	acceptor_gain	1.0000
X:14690709:GGTCT:G	acceptor_gain	1.0000
X:14690858:AGGTA:A	donor_loss	1.0000
X:14690859:GGTA:G	donor_loss	1.0000
X:14690860:G:GA	donor_loss	1.0000
X:14690861:T:G	donor_loss	1.0000
X:14730197:A:AG	acceptor_gain	1.0000
X:14845195:A:C	donor_gain	1.0000
X:14850503:A:AC	donor_gain	1.0000
X:14850504:C:CC	donor_gain	1.0000
X:14850504:CA:C	donor_gain	1.0000
X:14850504:CAG:C	donor_gain	1.0000
X:14853031:A:AC	donor_gain	1.0000
X:14853032:C:CC	donor_gain	1.0000
X:14853037:ACCT:A	donor_gain	1.0000
X:14853038:CCTC:C	donor_gain	1.0000
X:14853040:T:TA	donor_gain	1.0000
X:14853163:CAAAC:C	acceptor_gain	1.0000
X:14856213:C:CT	donor_gain	1.0000
X:14856214:T:TT	donor_gain	1.0000
X:14857858:TAAC:T	donor_loss	1.0000
X:14857859:AAC:A	donor_loss	1.0000
X:14857860:A:C	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000019750 (X:14776389 A>T), RS1000022439 (X:14790510 T>G), RS1000026371 (X:14713130 T>C), RS1000042524 (X:14754267 A>T), RS1000106763 (X:14765022 T>G), RS1000138566 (X:14852172 T>C), RS1000153164 (X:14844165 G>A,C,T), RS1000159292 (X:14764484 A>G,T), RS1000186315 (X:14736047 G>A), RS1000189530 (X:14794613 G>T), RS1000231007 (X:14722784 G>C,T), RS1000261085 (X:14732680 C>A,G,T), RS1000261332 (X:14820605 GTAACTC>G), RS1000265934 (X:14861295 T>C), RS1000271826 (X:14854893 C>A)

Disease associations

OMIM: gene MIM:300515 | disease phenotypes: MIM:227650, MIM:300514, MIM:314390, MIM:301076, MIM:137800, MIM:300888

GenCC curated gene-disease

Disease	Classification	Inheritance
Fanconi anemia complementation group B	Definitive	X-linked
VACTERL association, X-linked, with or without hydrocephalus	Strong	X-linked
VACTERL with hydrocephalus	Supportive	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 B	Definitive	XL

Mondo (11): Fanconi anemia (MONDO:0019391), Fanconi anemia complementation group B (MONDO:0010351), VACTERL association, X-linked, with or without hydrocephalus (MONDO:0010752), intellectual developmental disorder, X-linked, syndromic, Pilorge type (MONDO:0024772), glioma susceptibility 1 (MONDO:0024498), breast cancer (MONDO:0007254), Fanconi anemia complementation group A (MONDO:0009215), X-linked central congenital hypothyroidism with late-onset testicular enlargement (MONDO:0010475), multiple congenital anomalies/dysmorphic syndrome (MONDO:0019042), hereditary neoplastic syndrome (MONDO:0015356), VACTERL with hydrocephalus (MONDO:0010172)

Orphanet (5): Fanconi anemia (Orphanet:84), VACTERL with hydrocephalus (Orphanet:3412), X-linked central congenital hypothyroidism with late-onset testicular enlargement (Orphanet:329235), Multiple congenital anomalies/dysmorphic syndrome (Orphanet:68341), Inherited cancer-predisposing syndrome (Orphanet:140162)

HPO phenotypes

167 total (30 of 167 shown, HPO-id order):

HPO	Term
HP:0000010	Recurrent urinary tract infections
HP:0000023	Inguinal hernia
HP:0000027	Azoospermia
HP:0000028	Cryptorchidism
HP:0000035	Abnormal testis morphology
HP:0000047	Hypospadias
HP:0000054	Micropenis
HP:0000068	Urethral atresia
HP:0000072	Hydroureter
HP:0000079	Abnormality of the urinary system
HP:0000083	Renal insufficiency
HP:0000104	Renal agenesis
HP:0000105	Enlarged kidney
HP:0000126	Hydronephrosis
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:0000278	Retrognathia
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000324	Facial asymmetry
HP:0000340	Sloping forehead
HP:0000347	Micrognathia
HP:0000356	Abnormality of the outer ear
HP:0000364	Hearing abnormality
HP:0000365	Hearing impairment

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

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
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700
C564497	Fanconi Anemia, Complementation Group B (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, decreases methylation, affects cotreatment, increases expression	4
sodium arsenite	decreases expression, affects cotreatment, increases abundance	3
Vorinostat	affects cotreatment, increases expression	2
Benzo(a)pyrene	increases expression, increases methylation	2
aristolochic acid I	decreases expression	1
TAK-243	increases sumoylation	1
geldanamycin	increases expression	1
methylmercuric chloride	decreases expression	1
lasiocarpine	decreases expression, increases metabolic processing	1
triphenyl phosphate	affects expression	1
riddelliine	decreases expression, increases metabolic processing	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
ferrous chloride	increases expression	1
nickel acetate	decreases expression, decreases reaction, increases expression	1
CPG-oligonucleotide	increases expression	1
bazedoxifene	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
incobotulinumtoxinA	decreases expression	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	increases expression	1
Troglitazone	decreases expression	1
Acetaminophen	increases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Calcitriol	decreases expression, affects cotreatment	1
Cannabidiol	decreases expression	1
Carbamazepine	affects expression	1
Diclofenac	affects expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Methotrexate	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SN03	HAP1 FANCB (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00014638	PHASE4	COMPLETED	Letrozole in Treating Postmenopausal Women With Metastatic Breast Cancer
NCT00022386	PHASE4	COMPLETED	Epoetin Alfa in Treating Chemotherapy-Related Anemia in Women With Stage I, Stage II, or Stage III Breast Cancer
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00030758	PHASE4	UNKNOWN	Filgrastim or Pegfilgrastim in Preventing Neutropenia in Women Receiving Chemotherapy Following Surgery for Breast Cancer
NCT00082277	PHASE4	COMPLETED	Anastrozole Biphosphonate Study in Postmenopausal Women With Hormone-Receptor-Positive Early Breast Cancer
NCT00087620	PHASE4	TERMINATED	A Study of Capecitabine In Combination With Docetaxel vs Capecitabine Followed by Docetaxel As First-Line Treatment For Metastatic Breast Cancer
NCT00121836	PHASE4	COMPLETED	A Study of Xeloda (Capecitabine) in Women With HER2-Negative Metastatic Breast Cancer
NCT00126360	PHASE4	UNKNOWN	STARS Breast Trial (Study of Anastrozole and Radiotherapy Sequencing Pilot)
NCT00127933	PHASE4	COMPLETED	XeNA Study - A Study of Xeloda (Capecitabine) in Patients With Invasive Breast Cancer
NCT00128297	PHASE4	COMPLETED	Pamidronate Administration in Breast Cancer Patients With Bone Metastases
NCT00129597	PHASE4	UNKNOWN	Effect of Ketalar to Prevent Postoperative Chronic Pain After Mastectomy
NCT00131170	PHASE4	COMPLETED	Paravertebral Block for Breast Surgery
NCT00156039	PHASE4	COMPLETED	Randomized Trial of Follow-up Strategies in Breast Cancer
NCT00160901	PHASE4	COMPLETED	Complementary Therapies for the Reduction of Side Effects During Chemotherapy for Breast Cancer
NCT00171847	PHASE4	TERMINATED	Study of the Efficacy and Safety of Letrozole Combined With Trastuzumab in Patients With Metastatic Breast Cancer
NCT00176046	PHASE4	COMPLETED	Mistletoe Extract in Early or Advanced Breast Cancer, A Feasibility Study
NCT00190697	PHASE4	COMPLETED	A Study of LY353381 (Arzoxifene) for Patients Who Benefitted From This Drug in Other Oncology Trials and Wished to Continue Treatment
NCT00234195	PHASE4	COMPLETED	Wellbutrin XL, Major Depressive Disorder and Breast Cancer
NCT00237133	PHASE4	COMPLETED	Treatment of Locally Advanced Breast Cancer With Letrozole in Postmenopausal Women
NCT00237224	PHASE4	COMPLETED	Open Label Study of Postmenopausal Women With ER and /or PgR Positive Breast Cancer Treated With Letrozole
NCT00241046	PHASE4	TERMINATED	Letrozole in the Treatment of 1st and 2nd Line Hormone Receptor Positive Breast Cancer: Pre-therapeutic Risk Assessment
NCT00277160	PHASE4	COMPLETED	A Study of Primary Prophylaxis With Neulasta (Pegfilgrastim) Versus Secondary Prophylaxis After Chemotherapy in Elderly Subjects (>/= 65 Years Old) With Cancer
NCT00323479	PHASE4	COMPLETED	Arthralgia During Anastrozole Therapy for Breast Cancer
NCT00334139	PHASE4	COMPLETED	Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer
NCT00356148	PHASE4	COMPLETED	The Efficacy of Prophylactic Antibiotic Administration During Breast Cancer Surgery in Overweight Patients.
NCT00372476	PHASE4	COMPLETED	Efficacy and Safety of Imatinib and Vinorelbine in Patients With Advanced Breast Cancer
NCT00413491	PHASE4	UNKNOWN	National Screening in Denmark With MR Versus Mammography and Ultrasound of Women With BRCA1 or BRCA2 Mutations
NCT00484614	PHASE4	UNKNOWN	Study the Role of Positron Emission Mammography in Pre-surgical Planning for Breast Cancer
NCT00485953	PHASE4	COMPLETED	Effect of Bisphosphonate on Bone Loss in Postmenopausal Women With Breast Cancer Initiating Aromatase Inhibitor Therapy
NCT00496678	PHASE4	COMPLETED	Trial of Patient Navigation-Activation
NCT00531973	PHASE4	UNKNOWN	A Study of Liposomal Doxorubicin in Women With Breast Cancer Exploiting Tissue Doppler Imaging
NCT00537771	PHASE4	COMPLETED	Liver Safety Under Upfront Arimidex vs Tamoxifen
NCT00544986	PHASE4	COMPLETED	A Prospective,Open-label Study of Anastrozole in Post-menopausal Women With Hormone Sensitive Advanced Breast Cancer
NCT00613275	PHASE4	COMPLETED	Patient Navigation in the Safety Net:CONNECTeDD
NCT00638599	PHASE4	COMPLETED	Comparison of Laryngeal Mask Airway (LMA®) and Tracheal Tube in Modified Radical Mastectomy on Breast Cancer
NCT00647075	PHASE4	UNKNOWN	Yunzhi as Dietary Supplement in Breast Cancer
NCT00688909	PHASE4	COMPLETED	Rheumatological Evaluation of Anastrozole and Letrozole as Adjuvant Treatment in Post-menopausal Women With Breast Cancer
NCT00699101	PHASE4	TERMINATED	Using the Conture® Multi-Lumen Balloon to Deliver Accelerated Partial Breast Brachytherapy
NCT00742222	PHASE4	COMPLETED	Electronic Xoft Intersociety Brachytherapy Trial: Electronic Brachytherapy (EBT) For Treatment of Early Stage Breast Cancer
NCT00754767	PHASE4	TERMINATED	L-Carnitine L-Tartrate in Preventing Peripheral Neuropathy Caused By Chemotherapy in Women With Metastatic Breast Cancer