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FANCB
MCID: FNC032
MIFTS: 48

Fanconi Anemia, Complementation Group B (FANCB)

Categories: Blood diseases, Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Fanconi Anemia, Complementation Group B

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MalaCards integrated aliases for Fanconi Anemia, Complementation Group B:

Name: Fanconi Anemia, Complementation Group B 57 29 13 6 39 70
Fanconi Anemia Complementation Group B 12 72 15
Fancb 57 12 72
Fanconi Pancytopenia Type 2 12 72
Facb 57 12
Fa2 57 72
Fanconi Pancytopenia, Type 2; Fa2 57
Fanconi Pancytopenia, Type 2 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked recessive


HPO:

31
fanconi anemia, complementation group b:
Inheritance x-linked recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases
Anatomical: Blood diseases Nephrological diseases Bone diseases Skin diseases Immune diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0111098
OMIM® 57 300514
OMIM Phenotypic Series 57 PS227650
MeSH 44 D005199
MedGen 41 C1845292
UMLS 70 C1845292
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Summaries for Fanconi Anemia, Complementation Group B

About this section
OMIM® : 57 Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011). Patients with FANCB mutations often present with multiple additional congenital anomalies, including the constellation of features designated VACTERL-H (see 314390), for vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia, radial or renal dysplasia, and hydrocephalus. Many patients with these features die in early infancy before developing anemia (McCauley et al., 2011). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (300514) (Updated 20-May-2021)

MalaCards based summary : Fanconi Anemia, Complementation Group B, also known as fanconi anemia complementation group b, is related to vacterl association, x-linked, with or without hydrocephalus and vacterl association. An important gene associated with Fanconi Anemia, Complementation Group B is FANCB (FA Complementation Group B), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. Affiliated tissues include bone marrow, kidney and breast, and related phenotypes are tracheoesophageal fistula and abnormal lung lobation

Disease Ontology : 12 A Fanconi anemia that has material basis in mutation in the FANCB gene on chromosome Xp22.

UniProtKB/Swiss-Prot : 72 Fanconi anemia complementation group B: 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.

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Related Diseases for Fanconi Anemia, Complementation Group B

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Diseases in the Fanconi Anemia, Complementation Group C family:

Fanconi Anemia, Complementation Group D2 Fanconi Anemia, Complementation Group a
Fanconi Anemia, Complementation Group B Fanconi Anemia, Complementation Group E
Fanconi Anemia, Complementation Group F Fanconi Anemia, Complementation Group D1
Fanconi Anemia, Complementation Group I Fanconi Anemia, Complementation Group J
Fanconi Anemia, Complementation Group N Fanconi Anemia, Complementation Group O
Fanconi Anemia, Complementation Group P Fanconi Anemia, Complementation Group G
Fanconi Anemia, Complementation Group L Fanconi Anemia, Complementation Group Q
Fanconi Anemia, Complementation Group T Fanconi Anemia, Complementation Group V
Fanconi Anemia, Complementation Group R Fanconi Anemia, Complementation Group U
Fanconi Anemia, Complementation Group W Fanconi Anemia, Complementation Group S

Diseases related to Fanconi Anemia, Complementation Group B via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 vacterl association, x-linked, with or without hydrocephalus 31.9 FANCL FANCB
2 vacterl association 31.6 FANCL FANCB
3 nijmegen breakage syndrome 31.5 FANCF FANCD2 FANCB
4 vacterl with hydrocephalus 31.4 FANCL FANCB
5 fanconi anemia, complementation group u 30.7 FANCL FANCE FANCD2 FANCB FANCA
6 fanconi anemia, complementation group e 30.7 FANCG FANCF FANCE FANCD2 FANCC FANCA
7 fanconi anemia, complementation group v 30.4 FANCL FANCG FANCE FANCD2 FANCB FANCA
8 fanconi anemia, complementation group c 30.3 FAR2 FANCL FANCF FANCD2 FANCC FANCB
9 esophageal atresia 30.2 FANCL FANCG FANCF FANCE FANCD2 FANCC
10 fanconi anemia, complementation group n 30.1 FANCL FANCG FANCF FANCE FANCD2 FANCC
11 fanconi anemia, complementation group j 30.1 FANCL FANCG FANCF FANCE FANCD2 FANCC
12 fanconi anemia, complementation group d1 30.1 FANCL FANCG FANCF FANCE FANCD2 FANCC
13 fanconi anemia, complementation group r 30.0 FANCL FANCG FANCF FANCE FANCD2 FANCC
14 aplastic anemia 30.0 FANCL FANCG FANCF FANCE FANCD2 FANCC
15 fanconi anemia, complementation group t 30.0 FANCL FANCG FANCF FANCE FANCD2 FANCC
16 fanconi anemia, complementation group q 30.0 FANCL FANCG FANCF FANCE FANCD2 FANCC
17 fanconi anemia, complementation group p 30.0 FANCL FANCG FANCF FANCE FANCD2 FANCC
18 fanconi anemia, complementation group o 30.0 FANCL FANCG FANCF FANCE FANCD2 FANCC
19 fanconi anemia, complementation group l 29.6 FANCL FANCD2
20 deficiency anemia 29.3 FANCG FANCF FANCE FANCD2 FANCC FANCB
21 fanconi anemia, complementation group d2 29.0 FANCL FANCG FANCF FANCE FANCD2 FANCC
22 fanconi anemia, complementation group a 29.0 FANCL FANCG FANCF FANCE FANCD2 FANCC
23 vacterl association with hydrocephalus 11.2
24 hydrocephalus 11.2
25 friedreich ataxia 11.0
26 anus, imperforate 10.8
27 spastic paraplegia 36, autosomal dominant 10.8
28 autosomal recessive cerebellar ataxia 10.8
29 ankylosing spondylitis 3 10.8
30 acute retrobulbar neuritis 10.8
31 cerebellar disease 10.8
32 iga glomerulonephritis 10.0
33 peliosis hepatis 10.0 FANCG FANCC FANCA
34 pituitary stalk interruption syndrome 10.0 FANCG FANCD2 FANCA
35 chondrosarcoma 9.9
36 osteogenic sarcoma 9.9
37 secondary hyperparathyroidism 9.9
38 renal osteodystrophy 9.9
39 hyperparathyroidism 9.9
40 breast fibroadenoma 9.9
41 basal cell carcinoma 9.9
42 adenocarcinoma 9.9
43 kidney disease 9.9
44 in situ carcinoma 9.9
45 spondyloarthropathy 1 9.9
46 felty syndrome 9.9
47 rheumatoid arthritis 9.9
48 tetanus 9.9
49 heart disease 9.9
50 inflammatory spondylopathy 9.9

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group B:



Diseases related to Fanconi Anemia, Complementation Group B
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Symptoms & Phenotypes for Fanconi Anemia, Complementation Group B

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Human phenotypes related to Fanconi Anemia, Complementation Group B:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 tracheoesophageal fistula 31 occasional (7.5%) HP:0002575
2 abnormal lung lobation 31 occasional (7.5%) HP:0002101
3 intellectual disability 31 very rare (1%) HP:0001249
4 abnormal vertebral morphology 31 HP:0003468
5 anemia 31 HP:0001903
6 growth delay 31 HP:0001510
7 low-set ears 31 HP:0000369
8 thrombocytopenia 31 HP:0001873
9 abnormality of chromosome stability 31 HP:0003220
10 ventriculomegaly 31 HP:0002119
11 hypergonadotropic hypogonadism 31 HP:0000815
12 absent radius 31 HP:0003974
13 renal agenesis 31 HP:0000104
14 absent thumb 31 HP:0009777

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hematology:
anemia
thrombocytopenia

Growth Other:
growth retardation

Skeletal Hands:
thumb abnormalities

Genitourinary Kidneys:
kidney abnormalities

Skin Nails Hair Skin:
pigmentation abnormalities

Endocrine Features:
hypergonadotropic hypogonadism

Neurologic Central Nervous System:
mental retardation (rare)

Head And Neck Head:
head abnormalities

Skeletal Limbs:
radial ray abnormalities

Clinical features from OMIM®:

300514 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group B according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-1 9.73 FANCC FANCF FANCL
2 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-2 9.73 FANCC FANCF FANCL
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.36 FANCA FANCD2
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.36 FANCA FANCD2
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.36 FANCA FANCC FANCD2 FANCE FANCF FANCG
6 Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation GR00242-A-4 9.33 FANCC FANCF FANCL

MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group B:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.76 FANCA FANCB FANCC FANCD2 FANCE FANCF
2 endocrine/exocrine gland MP:0005379 9.61 FANCA FANCB FANCC FANCD2 FANCE FANCF
3 reproductive system MP:0005389 9.28 FANCA FANCB FANCC FANCD2 FANCE FANCF
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Drugs & Therapeutics for Fanconi Anemia, Complementation Group B

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Search Clinical Trials , NIH Clinical Center for Fanconi Anemia, Complementation Group B

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Genetic Tests for Fanconi Anemia, Complementation Group B

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Genetic tests related to Fanconi Anemia, Complementation Group B:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group B 29 FANCB
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Anatomical Context for Fanconi Anemia, Complementation Group B

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MalaCards organs/tissues related to Fanconi Anemia, Complementation Group B:

40
Bone Marrow, Kidney, Breast, Colon, Bone, Heart, Lung
Sources

Publications for Fanconi Anemia, Complementation Group B

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Articles related to Fanconi Anemia, Complementation Group B:

(show top 50) (show all 78)
# Title Authors PMID Year
1
X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations. 57 6 61
21910217 2011
2
Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. 57 6 61
16679491 2006
3
X-linked inheritance of Fanconi anemia complementation group B. 6 61 57
15502827 2004
4
VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance. 6 57
8368240 1993
5
Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes. 61 6
25168418 2014
6
Fanconi anemia: at the crossroads of DNA repair. 57
21568838 2011
7
Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 6
17924555 2008
8
Biallelic inactivation of BRCA2 in Fanconi anemia. 57
12065746 2002
9
Partial complementation of the Fanconi anemia defect upon transfection by heterologous DNA. Phenotypic dissociation of chromosomal and cellular hypersensitivity to DNA cross-linking agents. 57
2265827 1990
10
VACTERL with hydrocephalus: further delineation of the syndrome(s) 57
2816994 1989
11
Fanconi's anaemia: correlation of genetic complementation group with psoralen/UVA response. 57
3338794 1988
12
Two complementation groups of Fanconi's anemia differ in their phenotypic response to a DNA-crosslinking treatment. 57
3804331 1987
13
Identification of two complementation groups in Fanconi anemia. 57
3919452 1985
14
Genetic heterogeneity of Fanconi's anemia demonstrated by somatic cell hybrids. 57
7203484 1980
15
Olaparib Monotherapy for Previously Treated Pancreatic Cancer With DNA Damage Repair Genetic Alterations Other Than Germline BRCA Variants: Findings From 2 Phase 2 Nonrandomized Clinical Trials. 61
33662100 2021
16
TREX2 Exonuclease Causes Spontaneous Mutations and Stress-Induced Replication Fork Defects in Cells Expressing RAD51K133A. 61
33357432 2020
17
Novel Mutations and Genes That Impact on Growth in Short Stature of Undefined Aetiology: The EPIGROW Study. 61
32939436 2020
18
Precision medicine phase II study evaluating the efficacy of a double immunotherapy by durvalumab and tremelimumab combined with olaparib in patients with solid cancers and carriers of homologous recombination repair genes mutation in response or stable after olaparib treatment. 61
32778095 2020
19
Identification by TCGA database search of five genes that are aberrantly expressed and involved in hepatocellular carcinoma potentially via DNA methylation changes. 61
32703154 2020
20
Patients Resistant Against PSMA-Targeting α-Radiation Therapy Often Harbor Mutations in DNA Damage-Repair-Associated Genes. 61
31601699 2020
21
Association of clinical severity with FANCB variant type in Fanconi anemia. 61
32106311 2020
22
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. 61
32235514 2020
23
Transcriptome sequencing profiles of cervical cancer tissues and SiHa cells. 61
31456134 2020
24
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels. 61
31937788 2020
25
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia. 61
32502225 2020
26
Structure of the Fanconi anaemia monoubiquitin ligase complex. 61
31666700 2019
27
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients. 61
30792206 2019
28
Genotype-phenotype associations in Fanconi anemia: A literature review. 61
31351673 2019
29
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants. 61
31192527 2019
30
Delineating the role of FANCA in glucose-stimulated insulin secretion in β cells through its protein interactome. 61
31461451 2019
31
Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility. 61
30540754 2018
32
X-linked VACTERL-H caused by deletion of exon 3 in FANCB: A case report. 61
29232005 2018
33
FANCA Promotes DNA Double-Strand Break Repair by Catalyzing Single-Strand Annealing and Strand Exchange. 61
30057198 2018
34
Genetic and Epigenetic Features of Rapidly Progressing IDH-Mutant Astrocytomas. 61
29741737 2018
35
Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis. 61
29490426 2018
36
Distinct homologous recombination gene expression profiles after neoadjuvant chemotherapy associated with clinical outcome in patients with ovarian cancer. 61
29395310 2018
37
Mutational and Functional Analysis of FANCB as a Candidate Gene for Sporadic Head and Neck Squamous Cell Carcinomas. 61
29491055 2018
38
Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype. 61
29193904 2018
39
Molecular Portrait of Metastasis-Competent Circulating Tumor Cells in Colon Cancer Reveals the Crucial Role of Genes Regulating Energy Metabolism and DNA Repair. 61
28007957 2017
40
Mechanism of Ubiquitination and Deubiquitination in the Fanconi Anemia Pathway. 61
27986371 2017
41
The FA Core Complex Contains a Homo-dimeric Catalytic Module for the Symmetric Mono-ubiquitination of FANCI-FANCD2. 61
27986592 2017
42
Elucidation of the Fanconi Anemia Protein Network in Meiosis and Its Function in the Regulation of Histone Modifications. 61
27760317 2016
43
Pathological complete response after cisplatin neoadjuvant therapy is associated with the downregulation of DNA repair genes in BRCA1-associated triple-negative breast cancers. 61
27626685 2016
44
X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy. 61
26683739 2016
45
Fancb deficiency impairs hematopoietic stem cell function. 61
26658157 2015
46
FANCB is essential in the male germline and regulates H3K9 methylation on the sex chromosomes during meiosis. 61
26123487 2015
47
RECQL5 and BLM exhibit divergent functions in cells defective for the Fanconi anemia pathway. 61
25520194 2015
48
Uncoupling of transcription and translation of Fanconi anemia (FANC) complex proteins during spermatogenesis. 61
26413409 2015
49
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. 61
24584348 2014
50
The genetic and biochemical basis of FANCD2 monoubiquitination. 61
24905007 2014
Sources

Variations for Fanconi Anemia, Complementation Group B

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ClinVar genetic disease variations for Fanconi Anemia, Complementation Group B:

6 (show top 50) (show all 71)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FANCB FANCB, 1-BP INS, 1838T Insertion Pathogenic 10866 GRCh37:
GRCh38:
2 FANCB FANCB, 3314-BP DEL Deletion Pathogenic 10867 GRCh37:
GRCh38:
3 FANCB FANCB, 1-BP DEL, 1650T Deletion Pathogenic 10868 GRCh37:
GRCh38:
4 FANCB FANCB, 1-BP INS, 811T Insertion Pathogenic 10869 GRCh37:
GRCh38:
5 FANCB NC_000023.11:g.14843408_14873063del Deletion Pathogenic 691295 GRCh37:
GRCh38:
6 FANCB NM_001018113.3(FANCB):c.1497_2580del (p.Ser500fs) Deletion Pathogenic 691306 GRCh37: X:14861689-14863408
GRCh38: X:14843567-14845286
7 FANCB NM_001018113.3(FANCB):c.1496+5G>A SNV Pathogenic 10870 rs1569085810 GRCh37: X:14868622-14868622
GRCh38: X:14850500-14850500
8 FANCB NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter) SNV Pathogenic 37043 rs1569083185 GRCh37: X:14862640-14862640
GRCh38: X:14844518-14844518
9 FANCB NM_001018113.3(FANCB):c.128T>C (p.Leu43Ser) SNV Pathogenic 691298 rs1602006737 GRCh37: X:14883505-14883505
GRCh38: X:14865383-14865383
10 FANCB NM_001018113.3(FANCB):c.755_767del (p.Leu252fs) Deletion Pathogenic 691300 rs1602005463 GRCh37: X:14882866-14882878
GRCh38: X:14864744-14864756
11 FANCB NM_001018113.3(FANCB):c.949C>T (p.Gln317Ter) SNV Pathogenic 691302 rs1602005062 GRCh37: X:14882684-14882684
GRCh38: X:14864562-14864562
12 FANCB NM_001018113.3(FANCB):c.986T>C (p.Leu329Pro) SNV Pathogenic 691304 rs1161918267 GRCh37: X:14877422-14877422
GRCh38: X:14859300-14859300
13 FANCB NM_001018113.3(FANCB):c.1103C>A (p.Ser368Ter) SNV Pathogenic 691305 rs143585647 GRCh37: X:14877305-14877305
GRCh38: X:14859183-14859183
14 FANCB NM_001018113.3(FANCB):c.1668del (p.Asp557fs) Deletion Pathogenic 562389 rs1569083679 GRCh37: X:14863237-14863237
GRCh38: X:14845115-14845115
15 FANCB NM_001018113.3(FANCB):c.2165+1G>T SNV Pathogenic 691311 rs1601977379 GRCh37: X:14862624-14862624
GRCh38: X:14844502-14844502
16 FANCB NM_001018113.3(FANCB):c.2172_2175del (p.Thr725fs) Deletion Pathogenic 691314 rs1601976655 GRCh37: X:14862094-14862097
GRCh38: X:14843972-14843975
17 FANCB NM_001018113.3(FANCB):c.2249_2252del (p.Gly750fs) Deletion Pathogenic 691316 rs1601976527 GRCh37: X:14862017-14862020
GRCh38: X:14843895-14843898
18 FANCB NM_001018113.3(FANCB):c.195dup (p.Thr66fs) Duplication Pathogenic 691299 rs1602006627 GRCh37: X:14883437-14883438
GRCh38: X:14865315-14865316
19 FANCB NM_001018113.3(FANCB):c.829dup (p.Cys277fs) Duplication Pathogenic 691301 rs1602005335 GRCh37: X:14882803-14882804
GRCh38: X:14864681-14864682
20 FANCB NM_001018113.3(FANCB):c.1807_1808GA[2] (p.Arg604fs) Microsatellite Pathogenic 691307 rs1601977912 GRCh37: X:14863091-14863094
GRCh38: X:14844969-14844972
21 FANCB NM_001018113.3(FANCB):c.1856_1857insT (p.Arg619fs) Insertion Pathogenic 691308 rs1601977844 GRCh37: X:14863048-14863049
GRCh38: X:14844926-14844927
22 FANCB NM_001018113.3(FANCB):c.1855_1856AG[1] (p.Arg619fs) Microsatellite Pathogenic 37044 rs1569083464 GRCh37: X:14863047-14863048
GRCh38: X:14844925-14844926
23 FANCB NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala) SNV Uncertain significance 368027 rs956498867 GRCh37: X:14877330-14877330
GRCh38: X:14859208-14859208
24 FANCB NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe) SNV Uncertain significance 368026 rs1057515805 GRCh37: X:14871222-14871222
GRCh38: X:14853100-14853100
25 FANCB NM_001018113.3(FANCB):c.-230A>T SNV Uncertain significance 368038 rs1020271259 GRCh37: X:14891146-14891146
GRCh38: X:14873024-14873024
26 FANCB NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr) SNV Uncertain significance 368029 rs1057515808 GRCh37: X:14882719-14882719
GRCh38: X:14864597-14864597
27 FANCB NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln) SNV Uncertain significance 368031 rs1057515809 GRCh37: X:14882851-14882851
GRCh38: X:14864729-14864729
28 FANCB NM_001018113.3(FANCB):c.1458C>G (p.Ser486Arg) SNV Uncertain significance 982707 GRCh37: X:14868665-14868665
GRCh38: X:14850543-14850543
29 FANCB NM_152633.4(FANCB):c.-70-3463_951dup Duplication Uncertain significance 691296 GRCh37: X:14882681-14882682
GRCh38: X:14864559-14864560
30 FANCB NM_001018113.3(FANCB):c.2224T>C (p.Cys742Arg) SNV Uncertain significance 997556 GRCh37: X:14862045-14862045
GRCh38: X:14843923-14843923
31 FANCB NM_001018113.3(FANCB):c.2027T>C (p.Leu676Pro) SNV Uncertain significance 691309 rs1601977531 GRCh37: X:14862763-14862763
GRCh38: X:14844641-14844641
32 FANCB NM_001018113.3(FANCB):c.2059G>T (p.Glu687Ter) SNV Uncertain significance 691310 rs1601977510 GRCh37: X:14862731-14862731
GRCh38: X:14844609-14844609
33 FANCB NM_001018113.3(FANCB):c.952-13C>T SNV Uncertain significance 368028 rs1057515807 GRCh37: X:14877469-14877469
GRCh38: X:14859347-14859347
34 FANCB NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp) SNV Uncertain significance 368033 rs970828551 GRCh37: X:14883276-14883276
GRCh38: X:14865154-14865154
35 FANCB NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) SNV Uncertain significance 408160 rs200303151 GRCh37: X:14863185-14863185
GRCh38: X:14845063-14845063
36 FANCB NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) SNV Uncertain significance 456180 rs761346761 GRCh37: X:14883434-14883434
GRCh38: X:14865312-14865312
37 FANCB NM_001018113.3(FANCB):c.*151A>G SNV Uncertain significance 912396 GRCh37: X:14861538-14861538
GRCh38: X:14843416-14843416
38 FANCB NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys) SNV Uncertain significance 912445 GRCh37: X:14863253-14863253
GRCh38: X:14845131-14845131
39 FANCB NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro) SNV Uncertain significance 913590 GRCh37: X:14883437-14883437
GRCh38: X:14865315-14865315
40 FANCB NM_001018113.3(FANCB):c.183C>T (p.Ser61=) SNV Uncertain significance 913591 GRCh37: X:14883450-14883450
GRCh38: X:14865328-14865328
41 FANCB NM_001018113.3(FANCB):c.-111A>G SNV Uncertain significance 913592 GRCh37: X:14887085-14887085
GRCh38: X:14868963-14868963
42 FANCB NM_001018113.3(FANCB):c.2373C>T (p.Ser791=) SNV Uncertain significance 913897 GRCh37: X:14861896-14861896
GRCh38: X:14843774-14843774
43 FANCB NM_001018113.3(FANCB):c.1179T>C (p.Pro393=) SNV Uncertain significance 913944 GRCh37: X:14876002-14876002
GRCh38: X:14857880-14857880
44 FANCB NM_001018113.3(FANCB):c.-219G>T SNV Uncertain significance 913986 GRCh37: X:14891135-14891135
GRCh38: X:14873013-14873013
45 FANCB NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) SNV Uncertain significance 456183 rs761492600 GRCh37: X:14861942-14861942
GRCh38: X:14843820-14843820
46 FANCB NM_001018113.3(FANCB):c.1929G>A (p.Glu643=) SNV Uncertain significance 912444 GRCh37: X:14862861-14862861
GRCh38: X:14844739-14844739
47 FANCB NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser) SNV Uncertain significance 912473 GRCh37: X:14882824-14882824
GRCh38: X:14864702-14864702
48 FANCB NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly) SNV Likely benign 572694 rs140363445 GRCh37: X:14861927-14861927
GRCh38: X:14843805-14843805
49 FANCB NM_001018113.3(FANCB):c.402A>G (p.Leu134=) SNV Likely benign 368032 rs147260208 GRCh37: X:14883231-14883231
GRCh38: X:14865109-14865109
50 FANCB NM_001018113.3(FANCB):c.-232G>A SNV Likely benign 368039 rs756766337 GRCh37: X:14891148-14891148
GRCh38: X:14873026-14873026
Sources

Expression for Fanconi Anemia, Complementation Group B

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Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group B.
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Pathways for Fanconi Anemia, Complementation Group B

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Pathways related to Fanconi Anemia, Complementation Group B according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
DNA Double-Strand Break Repair 65
Show member pathways
 12.86 FANCL FANCG FANCF FANCE FANCD2 FANCC
2
Chks in Checkpoint Regulation 63
Show member pathways
 12.41 FANCG FANCF FANCE FANCD2 FANCC FANCA
3
BRCA1 Pathway 63
Show member pathways
 11.62 FANCL FANCG FANCF FANCE FANCD2 FANCC
4
Fanconi anemia pathway 65 36
11.19 FANCL FANCG FANCF FANCE FANCD2 FANCC
5
DNA damage_ATM/ATR regulation of G1/S checkpoint 23
11.05 FANCL FANCD2
6
BARD1 signaling events 1
10.96 FANCL FANCG FANCF FANCE FANCD2 FANCC
7
Wax biosynthesis 65
9.97 FAR2 FAR1
Sources

GO Terms for Fanconi Anemia, Complementation Group B

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Cellular components related to Fanconi Anemia, Complementation Group B according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.96 ZNF503 MUSTN1 FANCL FANCG FANCF FANCE
2 nucleoplasm GO:0005654 9.76 FANCL FANCG FANCF FANCE FANCD2 FANCC
3 peroxisomal matrix GO:0005782 9.32 FAR2 FAR1
4 Fanconi anaemia nuclear complex GO:0043240 9.17 FANCL FANCG FANCF FANCE FANCC FANCB
5 integral component of peroxisomal membrane GO:0005779 8.96 FAR2 FAR1

Biological processes related to Fanconi Anemia, Complementation Group B according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.76 FANCL FANCG FANCF FANCE FANCD2 FANCC
2 DNA repair GO:0006281 9.56 FANCL FANCG FANCF FANCE FANCD2 FANCC
3 regulation of DNA-binding transcription factor activity GO:0051090 9.49 FANCD2 FANCA
4 brain morphogenesis GO:0048854 9.48 FANCD2 FANCC
5 neuronal stem cell population maintenance GO:0097150 9.46 FANCD2 FANCC
6 regulation of regulatory T cell differentiation GO:0045589 9.43 FANCD2 FANCA
7 gamete generation GO:0007276 9.43 FANCL FANCD2 FANCC
8 long-chain fatty-acyl-CoA metabolic process GO:0035336 9.4 FAR2 FAR1
9 wax biosynthetic process GO:0010025 9.37 FAR2 FAR1
10 regulation of CD40 signaling pathway GO:2000348 9.32 FANCD2 FANCA
11 interstrand cross-link repair GO:0036297 9.23 FANCL FANCG FANCF FANCE FANCD2 FANCC

Molecular functions related to Fanconi Anemia, Complementation Group B according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 alcohol-forming fatty acyl-CoA reductase activity GO:0102965 8.96 FAR2 FAR1
2 fatty-acyl-CoA reductase (alcohol-forming) activity GO:0080019 8.62 FAR2 FAR1
Sources

Sources for Fanconi Anemia, Complementation Group B

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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