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

Aliases & Classifications for Fanconi Anemia, Complementation Group B

MalaCards integrated aliases for Fanconi Anemia, Complementation Group B:

Name: Fanconi Anemia, Complementation Group B 56 29 13 6 39 71
Fanconi Anemia Complementation Group B 12 73 15
Fancb 56 12 73
Fanconi Pancytopenia Type 2 12 73
Facb 56 12
Fa2 56 73
Fanconi Pancytopenia, Type 2; Fa2 56
Fanconi Pancytopenia, Type 2 56

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0111098
OMIM 56 300514
OMIM Phenotypic Series 56 PS227650
MeSH 43 D005199
MedGen 41 C1845292
UMLS 71 C1845292

Summaries for Fanconi Anemia, Complementation Group B

OMIM : 56 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, 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)

MalaCards based summary : Fanconi Anemia, Complementation Group B, also known as fanconi anemia complementation group b, is related to nijmegen breakage syndrome 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, bone and kidney, 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 : 73 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.

Related Diseases for Fanconi Anemia, Complementation Group B

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 68)
# Related Disease Score Top Affiliating Genes
1 nijmegen breakage syndrome 32.3 FANCF FANCD2 FANCB
2 vacterl association 32.0 FANCL FANCB
3 esophageal atresia/tracheoesophageal fistula 31.7 FANCC FANCB FANCA
4 fanconi anemia, complementation group c 31.2 FANCL FANCF FANCD2 FANCC FANCB FANCA
5 fanconi anemia, complementation group v 30.7 FANCL FANCE FANCD2 FANCC FANCB FANCA
6 fanconi anemia, complementation group u 30.7 FANCL FANCF FANCE FANCD2 FANCB FANCA
7 fanconi anemia, complementation group n 30.5 FANCL FANCG FANCF FANCE FANCD2 FANCC
8 fanconi anemia, complementation group j 30.5 FANCL FANCG FANCF FANCE FANCD2 FANCC
9 fanconi anemia, complementation group d1 30.5 FANCL FANCG FANCF FANCE FANCD2 FANCC
10 esophageal atresia 30.3 FANCL FANCG FANCF FANCE FANCD2 FANCC
11 fanconi anemia, complementation group l 30.1 FANCL FANCD2
12 fanconi anemia, complementation group r 30.0 FANCL FANCG FANCF FANCE FANCD2 FANCC
13 fanconi anemia, complementation group t 30.0 FANCL FANCG FANCF FANCE FANCD2 FANCC
14 fanconi anemia, complementation group q 30.0 FANCL FANCG FANCF FANCE FANCD2 FANCC
15 fanconi anemia, complementation group p 30.0 FANCL FANCG FANCF FANCE FANCD2 FANCC
16 fanconi anemia, complementation group o 30.0 FANCL FANCG FANCF FANCE FANCD2 FANCC
17 fanconi anemia, complementation group d2 29.9 FANCG FANCD2 FANCB FANCA
18 fanconi anemia, complementation group e 29.2 FANCG FANCF FANCE FANCD2 FANCC FANCA
19 fanconi anemia, complementation group a 28.5 FANCL FANCG FANCF FANCE FANCD2 FANCC
20 vacterl association with hydrocephalus 12.0
21 hydrocephalus 11.7
22 vacterl association, x-linked, with or without hydrocephalus 11.6
23 vacterl with hydrocephalus 11.6
24 friedreich ataxia 11.2
25 anus, imperforate 11.1
26 spastic paraplegia 36, autosomal dominant 11.1
27 autosomal recessive cerebellar ataxia 11.1
28 ankylosing spondylitis 3 11.1
29 vacterl association with hydrocephaly, x-linked 11.1
30 iga glomerulonephritis 10.3
31 spondyloarthropathy 1 10.1
32 felty syndrome 10.1
33 rheumatoid arthritis 10.1
34 tetanus 10.1
35 inflammatory spondylopathy 10.1
36 neutropenia 10.1
37 glomerulonephritis 10.1
38 proliferative glomerulonephritis 10.1
39 spondylitis 10.1
40 breast cancer 10.1
41 chondrosarcoma 10.1
42 osteogenic sarcoma 10.1
43 secondary hyperparathyroidism 10.1
44 renal osteodystrophy 10.1
45 hyperparathyroidism 10.1
46 breast fibroadenoma 10.1
47 basal cell carcinoma 10.1
48 adenocarcinoma 10.1
49 kidney disease 10.1
50 in situ carcinoma 10.1

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



Diseases related to Fanconi Anemia, Complementation Group B

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group B

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:

56
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

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:

45
# 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 9.23 FANCA FANCB FANCC FANCD2 FANCE FANCF

Drugs & Therapeutics for Fanconi Anemia, Complementation Group B

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

Genetic Tests for Fanconi Anemia, Complementation Group B

Genetic tests related to Fanconi Anemia, Complementation Group B:

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

Anatomical Context for Fanconi Anemia, Complementation Group B

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

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

Publications for Fanconi Anemia, Complementation Group B

Articles related to Fanconi Anemia, Complementation Group B:

(show top 50) (show all 75)
# Title Authors PMID Year
1
X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations. 56 6 61
21910217 2011
2
Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. 61 56 6
16679491 2006
3
X-linked inheritance of Fanconi anemia complementation group B. 61 6 56
15502827 2004
4
VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance. 6 56
8368240 1993
5
Fanconi Anemia 61 6
20301575 2002
6
Fanconi anemia: at the crossroads of DNA repair. 56
21568838 2011
7
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 6
19888064 2009
8
Esophageal Atresia / Tracheoesophageal Fistula Overview 6
20301753 2009
9
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
10
Biallelic inactivation of BRCA2 in Fanconi anemia. 56
12065746 2002
11
Partial complementation of the Fanconi anemia defect upon transfection by heterologous DNA. Phenotypic dissociation of chromosomal and cellular hypersensitivity to DNA cross-linking agents. 56
2265827 1990
12
VACTERL with hydrocephalus: further delineation of the syndrome(s) 56
2816994 1989
13
Fanconi's anaemia: correlation of genetic complementation group with psoralen/UVA response. 56
3338794 1988
14
Two complementation groups of Fanconi's anemia differ in their phenotypic response to a DNA-crosslinking treatment. 56
3804331 1987
15
Identification of two complementation groups in Fanconi anemia. 56
3919452 1985
16
Genetic heterogeneity of Fanconi's anemia demonstrated by somatic cell hybrids. 56
7203484 1980
17
Patients Resistant Against PSMA-Targeting α-Radiation Therapy Often Harbor Mutations in DNA Damage-Repair-Associated Genes. 61
31601699 2020
18
Association of clinical severity with FANCB variant type in Fanconi anemia. 61
32106311 2020
19
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. 61
32235514 2020
20
Transcriptome sequencing profiles of cervical cancer tissues and SiHa cells. 61
31456134 2020
21
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels. 61
31937788 2020
22
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia. 61
32502225 2020
23
Structure of the Fanconi anaemia monoubiquitin ligase complex. 61
31666700 2019
24
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients. 61
30792206 2019
25
Genotype-phenotype associations in Fanconi anemia: A literature review. 61
31351673 2019
26
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants. 61
31192527 2019
27
Delineating the role of FANCA in glucose-stimulated insulin secretion in β cells through its protein interactome. 61
31461451 2019
28
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
29
X-linked VACTERL-H caused by deletion of exon 3 in FANCB: A case report. 61
29232005 2018
30
FANCA Promotes DNA Double-Strand Break Repair by Catalyzing Single-Strand Annealing and Strand Exchange. 61
30057198 2018
31
Genetic and Epigenetic Features of Rapidly Progressing IDH-Mutant Astrocytomas. 61
29741737 2018
32
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
33
Mutational and Functional Analysis of FANCB as a Candidate Gene for Sporadic Head and Neck Squamous Cell Carcinomas. 61
29491055 2018
34
Distinct homologous recombination gene expression profiles after neoadjuvant chemotherapy associated with clinical outcome in patients with ovarian cancer. 61
29395310 2018
35
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
36
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
37
The FA Core Complex Contains a Homo-dimeric Catalytic Module for the Symmetric Mono-ubiquitination of FANCI-FANCD2. 61
27986592 2017
38
Mechanism of Ubiquitination and Deubiquitination in the Fanconi Anemia Pathway. 61
27986371 2017
39
Elucidation of the Fanconi Anemia Protein Network in Meiosis and Its Function in the Regulation of Histone Modifications. 61
27760317 2016
40
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
41
X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy. 61
26683739 2016
42
Fancb deficiency impairs hematopoietic stem cell function. 61
26658157 2015
43
FANCB is essential in the male germline and regulates H3K9 methylation on the sex chromosomes during meiosis. 61
26123487 2015
44
Uncoupling of transcription and translation of Fanconi anemia (FANC) complex proteins during spermatogenesis. 61
26413409 2015
45
RECQL5 and BLM exhibit divergent functions in cells defective for the Fanconi anemia pathway. 61
25520194 2015
46
Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes. 61
25168418 2014
47
The genetic and biochemical basis of FANCD2 monoubiquitination. 61
24905007 2014
48
Modularized functions of the Fanconi anemia core complex. 61
24910428 2014
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
Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association. 61
24416387 2014

Variations for Fanconi Anemia, Complementation Group B

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

6 (show top 50) (show all 69) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FANCB NC_000023.11:g.14843408_14873063deldeletion Pathogenic 691295
2 FANCB NM_001018113.3(FANCB):c.1497_2580del (p.Ser500fs)deletion Pathogenic 691306 X:14861689-14863408 X:14843567-14845286
3 FANCB NM_001018113.3(FANCB):c.2249_2252del (p.Gly750fs)deletion Pathogenic 691316 X:14862017-14862020 X:14843895-14843898
4 FANCB NM_001018113.3(FANCB):c.2172_2175del (p.Thr725fs)deletion Pathogenic 691314 X:14862094-14862097 X:14843972-14843975
5 FANCB NM_001018113.3(FANCB):c.2165+1G>TSNV Pathogenic 691311 X:14862624-14862624 X:14844502-14844502
6 FANCB NM_001018113.3(FANCB):c.1856_1857insT (p.Arg619fs)insertion Pathogenic 691308 X:14863048-14863049 X:14844926-14844927
7 FANCB NM_001018113.3(FANCB):c.1807_1808GA[2] (p.Arg604fs)short repeat Pathogenic 691307 X:14863091-14863094 X:14844969-14844972
8 FANCB NM_001018113.3(FANCB):c.1103C>A (p.Ser368Ter)SNV Pathogenic 691305 X:14877305-14877305 X:14859183-14859183
9 FANCB NM_001018113.3(FANCB):c.986T>C (p.Leu329Pro)SNV Pathogenic 691304 X:14877422-14877422 X:14859300-14859300
10 FANCB NM_001018113.3(FANCB):c.949C>T (p.Gln317Ter)SNV Pathogenic 691302 X:14882684-14882684 X:14864562-14864562
11 FANCB NM_001018113.3(FANCB):c.829dup (p.Cys277fs)duplication Pathogenic 691301 X:14882803-14882804 X:14864681-14864682
12 FANCB NM_001018113.3(FANCB):c.755_767del (p.Leu252fs)deletion Pathogenic 691300 X:14882866-14882878 X:14864744-14864756
13 FANCB NM_001018113.3(FANCB):c.195dup (p.Thr66fs)duplication Pathogenic 691299 X:14883437-14883438 X:14865315-14865316
14 FANCB NM_001018113.3(FANCB):c.128T>C (p.Leu43Ser)SNV Pathogenic 691298 X:14883505-14883505 X:14865383-14865383
15 FANCB FANCB, 1-BP INS, 811Tinsertion Pathogenic 10869
16 FANCB FANCB, 1-BP INS, 1838Tinsertion Pathogenic 10866
17 FANCB FANCB, 3314-BP DELdeletion Pathogenic 10867
18 FANCB FANCB, 1-BP DEL, 1650Tdeletion Pathogenic 10868
19 FANCB NM_001018113.3(FANCB):c.1496+5G>ASNV Pathogenic 10870 rs1569085810 X:14868622-14868622 X:14850500-14850500
20 FANCB NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter)SNV Pathogenic 37043 rs1569083185 X:14862640-14862640 X:14844518-14844518
21 FANCB NM_001018113.3(FANCB):c.1855_1856AG[1] (p.Arg619fs)short repeat Pathogenic 37044 rs1569083464 X:14863047-14863048 X:14844925-14844926
22 FANCB NM_001018113.3(FANCB):c.1668del (p.Asp557fs)deletion Pathogenic 562389 rs1569083679 X:14863237-14863237 X:14845115-14845115
23 FANCB NM_001018113.3(FANCB):c.1371C>T (p.Val457=)SNV Conflicting interpretations of pathogenicity 198442 rs149695930 X:14868752-14868752 X:14850630-14850630
24 FANCB NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)SNV Conflicting interpretations of pathogenicity 246611 rs142959373 X:14863136-14863136 X:14845014-14845014
25 FANCB NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser)SNV Conflicting interpretations of pathogenicity 408160 rs200303151 X:14863185-14863185 X:14845063-14845063
26 FANCB NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val)SNV Conflicting interpretations of pathogenicity 456183 rs761492600 X:14861942-14861942 X:14843820-14843820
27 FANCB NM_001018113.3(FANCB):c.199A>G (p.Ile67Val)SNV Conflicting interpretations of pathogenicity 456180 rs761346761 X:14883434-14883434 X:14865312-14865312
28 FANCB NM_001018113.3(FANCB):c.2059G>T (p.Glu687Ter)SNV Uncertain significance 691310 X:14862731-14862731 X:14844609-14844609
29 FANCB NM_001018113.3(FANCB):c.2027T>C (p.Leu676Pro)SNV Uncertain significance 691309 X:14862763-14862763 X:14844641-14844641
30 FANCB NC_000023.11:g.14864560_14869043dupduplication Uncertain significance 691296
31 FANCB NM_001018113.3(FANCB):c.*151A>GSNV Uncertain significance 912396 X:14861538-14861538 X:14843416-14843416
32 FANCB NM_001018113.3(FANCB):c.2373C>T (p.Ser791=)SNV Uncertain significance 913897 X:14861896-14861896 X:14843774-14843774
33 FANCB NM_001018113.3(FANCB):c.1929G>A (p.Glu643=)SNV Uncertain significance 912444 X:14862861-14862861 X:14844739-14844739
34 FANCB NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys)SNV Uncertain significance 912445 X:14863253-14863253 X:14845131-14845131
35 FANCB NM_001018113.3(FANCB):c.1179T>C (p.Pro393=)SNV Uncertain significance 913944 X:14876002-14876002 X:14857880-14857880
36 FANCB NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser)SNV Uncertain significance 912473 X:14882824-14882824 X:14864702-14864702
37 FANCB NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro)SNV Uncertain significance 913590 X:14883437-14883437 X:14865315-14865315
38 FANCB NM_001018113.3(FANCB):c.183C>T (p.Ser61=)SNV Uncertain significance 913591 X:14883450-14883450 X:14865328-14865328
39 FANCB NM_001018113.3(FANCB):c.-111A>GSNV Uncertain significance 913592 X:14887085-14887085 X:14868963-14868963
40 FANCB NM_001018113.3(FANCB):c.-219G>TSNV Uncertain significance 913986 X:14891135-14891135 X:14873013-14873013
41 FANCB NM_001018113.3(FANCB):c.952-13C>TSNV Uncertain significance 368028 rs1057515807 X:14877469-14877469 X:14859347-14859347
42 FANCB NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp)SNV Uncertain significance 368033 rs970828551 X:14883276-14883276 X:14865154-14865154
43 FANCB NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala)SNV Uncertain significance 368027 rs956498867 X:14877330-14877330 X:14859208-14859208
44 FANCB NM_001018113.3(FANCB):c.-230A>TSNV Uncertain significance 368038 rs1020271259 X:14891146-14891146 X:14873024-14873024
45 FANCB NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe)SNV Uncertain significance 368026 rs1057515805 X:14871222-14871222 X:14853100-14853100
46 FANCB NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr)SNV Uncertain significance 368029 rs1057515808 X:14882719-14882719 X:14864597-14864597
47 FANCB NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln)SNV Uncertain significance 368031 rs1057515809 X:14882851-14882851 X:14864729-14864729
48 FANCB NM_001018113.3(FANCB):c.-232G>ASNV Likely benign 368039 rs756766337 X:14891148-14891148 X:14873026-14873026
49 FANCB NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn)SNV Likely benign 368023 rs148560784 X:14863088-14863088 X:14844966-14844966
50 FANCB NM_001018113.3(FANCB):c.69T>C (p.Leu23=)SNV Benign/Likely benign 368035 rs151173533 X:14883564-14883564 X:14865442-14865442

Expression for Fanconi Anemia, Complementation Group B

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

Pathways for Fanconi Anemia, Complementation Group B

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 FANCL FANCG FANCF FANCE FANCD2 FANCC
2
Show member pathways
12.41 FANCG FANCF FANCE FANCD2 FANCC FANCA
3
Show member pathways
11.62 FANCL FANCG FANCF FANCE FANCD2 FANCC
4 11.53 FANCL FANCG FANCF FANCE FANCD2 FANCC
5 11.01 FANCL FANCD2
6 10.63 FANCL FANCG FANCF FANCE FANCD2 FANCC

GO Terms for Fanconi Anemia, Complementation Group B

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 9.85 ZNF766 ZNF503 FANCL FANCG FANCF FANCE
2 nucleoplasm GO:0005654 9.56 FANCL FANCG FANCF FANCE FANCD2 FANCC
3 Fanconi anaemia nuclear complex GO:0043240 9.17 FANCL FANCG FANCF FANCE FANCC FANCB

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

# 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 9.46 FANCD2 FANCA
4 neuronal stem cell population maintenance GO:0097150 9.43 FANCD2 FANCC
5 gamete generation GO:0007276 9.43 FANCL FANCD2 FANCC
6 brain morphogenesis GO:0048854 9.4 FANCD2 FANCC
7 regulation of regulatory T cell differentiation GO:0045589 9.37 FANCD2 FANCA
8 regulation of CD40 signaling pathway GO:2000348 9.32 FANCD2 FANCA
9 interstrand cross-link repair GO:0036297 9.23 FANCL FANCG FANCF FANCE FANCD2 FANCC

Sources for Fanconi Anemia, Complementation Group B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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