FANCO
MCID: FNC048
MIFTS: 50

Fanconi Anemia, Complementation Group O (FANCO)

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 O

MalaCards integrated aliases for Fanconi Anemia, Complementation Group O:

Name: Fanconi Anemia, Complementation Group O 57 29 6 39 70
Fanconi Anemia Complementation Group O 12 72 15
Fanco 57 12 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
fanconi anemia, complementation group o:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111096
OMIM® 57 613390
OMIM Phenotypic Series 57 PS227650
MeSH 44 D005199
MedGen 41 C3150653
UMLS 70 C3150653

Summaries for Fanconi Anemia, Complementation Group O

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). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (613390) (Updated 05-Apr-2021)

MalaCards based summary : Fanconi Anemia, Complementation Group O, also known as fanconi anemia complementation group o, is related to hereditary breast ovarian cancer syndrome and microcephaly. An important gene associated with Fanconi Anemia, Complementation Group O is RAD51C (RAD51 Paralog C), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. Affiliated tissues include bone marrow, breast and heart, and related phenotypes are short stature and cryptorchidism

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous mutation in the RAD51C gene on chromosome 17q21-q24.

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

Related Diseases for Fanconi Anemia, Complementation Group O

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 O via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 hereditary breast ovarian cancer syndrome 29.8 RAD51C PALB2 FANCM FANCG
2 microcephaly 28.9 SLX4 RAD51C FANCI FANCE FANCA ERCC6
3 deficiency anemia 28.3 FANCM FANCI FANCG FANCF FANCE FANCD2
4 fanconi anemia, complementation group d2 26.3 UBE2T FANCM FANCL FANCI FANCG FANCF
5 fanconi anemia, complementation group a 25.8 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
6 maternal uniparental disomy 10.3 SLX4 FANCA
7 maternal uniparental disomy of chromosome 16 10.2 SLX4 FANCA
8 xfe progeroid syndrome 10.2 SLX4 ERCC6
9 vacterl with hydrocephalus 10.1 FANCL FANCB
10 peritoneum cancer 10.1 RAD51C PALB2
11 vacterl association, x-linked, with or without hydrocephalus 10.1 FANCL FANCB
12 interstitial nephritis, karyomegalic 10.1 SLX4 FANCI FANCD2
13 breast-ovarian cancer, familial 1 10.1 RAD51C PALB2
14 vacterl association 10.0 FANCL FANCI FANCB
15 fallopian tube disease 10.0 RAD51C PALB2
16 pituitary stalk interruption syndrome 10.0 FANCG FANCD2 FANCA
17 tracheoesophageal fistula with or without esophageal atresia 10.0 PALB2 FANCC
18 bloom syndrome 9.9 FANCM FANCC FANCA
19 peliosis hepatis 9.9 FANCG FANCC FANCA
20 breast cancer 9.9
21 anus, imperforate 9.9
22 breast-ovarian cancer, familial 3 9.9
23 tumor predisposition syndrome 9.9
24 cutaneous telangiectasia and cancer syndrome, familial 9.9
25 patau syndrome 9.9
26 holoprosencephaly 9.9
27 cleft lip 9.9
28 chromosomal triplication 9.9
29 cleft lip/palate 9.9
30 inherited cancer-predisposing syndrome 9.9
31 lobar holoprosencephaly 9.9
32 nijmegen breakage syndrome 9.8 FANCF FANCD2 FANCB
33 sporadic breast cancer 9.8 RAD51C PALB2 FANCF FANCD2
34 fanconi anemia, complementation group l 9.8 UBE2T FANCL FANCI FANCD2
35 pancytopenia 9.8 FANCG FANCC FANCA
36 dyskeratosis congenita 9.8 SLX4 FANCD2 FANCC FANCA
37 xeroderma pigmentosum, complementation group f 9.7 SLX4 FANCM FANCD2 FAAP24 ERCC6
38 fanconi anemia, complementation group e 9.4 FANCG FANCF FANCE FANCD2 FANCC FANCA
39 fanconi anemia, complementation group f 9.4 FANCG FANCF FANCE FANCD2 FANCC FANCA
40 seckel syndrome 9.2 FANCM FANCL FANCI FANCE FANCD2 FANCA
41 squamous cell carcinoma, head and neck 9.2 FANCL FANCG FANCF FANCE FANCD2 FANCC
42 fanconi anemia, complementation group b 9.0 FANCL FANCG FANCF FANCE FANCD2 FANCC
43 fanconi anemia, complementation group u 8.9 UBE2T SLX4 RAD51C FANCM FANCL FANCI
44 fanconi anemia, complementation group c 8.9 UBE2T FANCL FANCI FANCF FANCD2 FANCC
45 xeroderma pigmentosum, variant type 8.7 SLX4 FANCM FANCL FANCI FANCG FANCD2
46 esophageal atresia 8.7 FANCM FANCL FANCI FANCG FANCF FANCE
47 fanconi anemia, complementation group i 8.7 FANCM FANCL FANCI FANCF FANCD2 FANCA
48 fanconi anemia, complementation group v 8.1 UBE2T SLX4 FANCM FANCL FANCI FANCG
49 fanconi anemia, complementation group r 7.9 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
50 fanconi anemia, complementation group q 7.9 UBE2T SLX4 RAD51C PALB2 FANCM FANCL

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



Diseases related to Fanconi Anemia, Complementation Group O

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group O

Human phenotypes related to Fanconi Anemia, Complementation Group O:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 cryptorchidism 31 HP:0000028
3 anal atresia 31 HP:0002023
4 hydronephrosis 31 HP:0000126
5 short thumb 31 HP:0009778
6 hypoplasia of the radius 31 HP:0002984
7 abnormal heart morphology 31 HP:0001627
8 renal cyst 31 HP:0000107
9 absent thumb 31 HP:0009777
10 stage 5 chronic kidney disease 31 HP:0003774
11 external genital hypoplasia 31 HP:0003241
12 rectal atresia 31 HP:0025023

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

Genitourinary Kidneys:
hydronephrosis
chronic renal failure
cystic kidneys

Cardiovascular Heart:
congenital heart defect

Skeletal Hands:
thumb hypoplasia
thumb aplasia
long, slim fingers

Genitourinary External Genitalia Male:
cryptorchidism
small genitalia

Abdomen Gastrointestinal:
rectal atresia
imperforate anus
duodenal web

Skeletal Limbs:
radial hypoplasia
radial anomalies

Laboratory Abnormalities:
increased chromosomal breaks in response to cross-linking agents and ionizing radiation
defect in dna repair
cellular arrest at g2 of the cell cycle

Clinical features from OMIM®:

613390 (Updated 05-Apr-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.9 ERCC6 FANCA FANCD2 PALB2 UBE2T
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.9 ERCC6 FANCA FANCD2 FANCM PALB2 UBE2T
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.9 ERCC6 FANCA FANCD2 UBE2T FAAP24 FANCC
4 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-1 9.73 FANCC FANCF FANCL
5 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-2 9.73 FANCC FANCF FANCL
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 O:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 ERCC6 FANCA FANCB FANCC FANCD2 FANCE
2 endocrine/exocrine gland MP:0005379 9.9 FANCA FANCB FANCC FANCD2 FANCE FANCF
3 neoplasm MP:0002006 9.43 ERCC6 FANCA FANCD2 FANCF FANCM PALB2
4 reproductive system MP:0005389 9.36 FANCA FANCB FANCC FANCD2 FANCE FANCF

Drugs & Therapeutics for Fanconi Anemia, Complementation Group O

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

Genetic Tests for Fanconi Anemia, Complementation Group O

Genetic tests related to Fanconi Anemia, Complementation Group O:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group O 29 RAD51C

Anatomical Context for Fanconi Anemia, Complementation Group O

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

40
Bone Marrow, Breast, Heart, Kidney, Prostate

Publications for Fanconi Anemia, Complementation Group O

Articles related to Fanconi Anemia, Complementation Group O:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Mutation of the RAD51C gene in a Fanconi anemia-like disorder. 57 6
20400963 2010
2
Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. 6 61
24141787 2014
3
Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: implications for Fanconi anemia and breast cancer susceptibility. 61 6
22167183 2012
4
Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients. 6
30927251 2019
5
Outcomes of 92 patient-driven family studies for reclassification of variants of uncertain significance. 6
30374176 2019
6
Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations. 6
29470806 2018
7
Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2. 6
29020732 2018
8
Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain). 6
29409816 2018
9
Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer. 6
29659569 2018
10
Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication. 6
28802053 2018
11
Germline breast cancer susceptibility gene mutations and breast cancer outcomes. 6
29566657 2018
12
Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers. 6
29255180 2017
13
Expanding the spectrum of germline variants in cancer. 6
28975465 2017
14
Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma. 6
28767289 2017
15
Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer. 6
28905878 2017
16
The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer. 6
27622768 2017
17
Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene. 6
27913932 2017
18
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. 6
27616075 2017
19
Germline mutations in DNA repair genes may predict neoadjuvant therapy response in triple negative breast patients. 6
27328445 2016
20
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 6
26822949 2016
21
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 6
26681312 2016
22
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 6
27433846 2016
23
Veliparib Alone or in Combination with Mitomycin C in Patients with Solid Tumors With Functional Deficiency in Homologous Recombination Repair. 6
26848151 2016
24
Inherited Mutations in Women With Ovarian Carcinoma. 6
26720728 2016
25
Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. 6
26824983 2016
26
Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel. 6
26687385 2016
27
Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer. 6
26740214 2016
28
Patterns and functional implications of rare germline variants across 12 cancer types. 6
26689913 2015
29
Mammalian RAD51 paralogs protect nascent DNA at stalled forks and mediate replication restart. 6
26354865 2015
30
Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. 6
26270727 2015
31
Genetic testing for RAD51C mutations: in the clinic and community. 6
25470109 2015
32
Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population. 6
26261251 2015
33
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 6
25980754 2015
34
Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations. 6
25154786 2015
35
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 6
25452441 2015
36
Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic. 6
26057125 2015
37
Enhanced non-homologous end joining contributes toward synthetic lethality of pathological RAD51C mutants with poly (ADP-ribose) polymerase. 6
25292178 2015
38
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. 6
24549055 2014
39
Pathological features of breast and ovarian cancers in RAD51C germline mutation carriers. 6
24993905 2014
40
RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families. 6
25086635 2014
41
Deleterious RAD51C germline mutations rarely predispose to breast and ovarian cancer in Pakistan. 6
24800917 2014
42
RAD51C--a new human cancer susceptibility gene for sporadic squamous cell carcinoma of the head and neck (HNSCC). 6
24315737 2014
43
RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families. 6
24359560 2013
44
Germline mutation in the RAD51B gene confers predisposition to breast cancer. 6
24139550 2013
45
Germline RAD51C mutations in ovarian cancer susceptibility. 6
22725699 2013
46
Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families. 6
22451500 2012
47
Germline RAD51C mutations confer susceptibility to ovarian cancer. 6
22538716 2012
48
Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients. 6
21990120 2012
49
Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility. 6
21750962 2011
50
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 6
22006311 2011

Variations for Fanconi Anemia, Complementation Group O

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

6 (show top 50) (show all 771)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAD51C NM_058216.3(RAD51C):c.535del (p.His179fs) Deletion Pathogenic 471445 rs1555594864 GRCh37: 17:56774184-56774184
GRCh38: 17:58696823-58696823
2 RAD51C NC_000017.11:g.(?_58703186)_(58734222_?)del Deletion Pathogenic 831411 GRCh37: 17:56780547-56811583
GRCh38:
3 RAD51C NC_000017.11:g.(?_58732474)_(58734222_?)del Deletion Pathogenic 831533 GRCh37: 17:56809835-56811583
GRCh38:
4 RAD51C NC_000017.11:g.(?_58692625)_(58710000_?)del Deletion Pathogenic 831559 GRCh37: 17:56769986-56787361
GRCh38:
5 RAD51C NC_000017.11:g.(?_58709849)_(58734222_?)del Deletion Pathogenic 831791 GRCh37: 17:56787210-56811583
GRCh38:
6 RAD51C NC_000017.11:g.(?_58692625)_(58734222_?)del Deletion Pathogenic 831953 GRCh37: 17:56769986-56811583
GRCh38:
7 RAD51C NC_000017.11:g.(?_58692634)_(58734232_?)del Deletion Pathogenic 832185 GRCh37: 17:56769995-56811593
GRCh38:
8 RAD51C NC_000017.11:g.(?_58692634)_(58703339_?)del Deletion Pathogenic 832404 GRCh37: 17:56769995-56780700
GRCh38:
9 RAD51C NC_000017.11:g.(?_58720736)_(58734222_?)del Deletion Pathogenic 832995 GRCh37: 17:56798097-56811583
GRCh38:
10 RAD51C NC_000017.11:g.(?_58720736)_(58734352_?)del Deletion Pathogenic 833399 GRCh37: 17:56798097-56811713
GRCh38:
11 RAD51C NM_058216.1(RAD51C):c.(?_-1)_(*1_?)del Deletion Pathogenic 216131 GRCh37:
GRCh38:
12 RAD51C NM_058216.3(RAD51C):c.204T>A (p.Cys68Ter) SNV Pathogenic 841203 GRCh37: 17:56772350-56772350
GRCh38: 17:58694989-58694989
13 RAD51C NM_058216.3(RAD51C):c.675del (p.Leu226fs) Deletion Pathogenic 844507 GRCh37: 17:56780659-56780659
GRCh38: 17:58703298-58703298
14 RAD51C NM_058216.3(RAD51C):c.97_98del (p.Gln33fs) Deletion Pathogenic 136163 rs587780840 GRCh37: 17:56770101-56770102
GRCh38: 17:58692740-58692741
15 RAD51C NM_058216.3(RAD51C):c.851_854del (p.Asn284fs) Deletion Pathogenic 409865 rs1060502605 GRCh37: 17:56798118-56798121
GRCh38: 17:58720757-58720760
16 RAD51C NM_058216.3(RAD51C):c.52_53del (p.Pro18fs) Deletion Pathogenic 653763 rs1598448896 GRCh37: 17:56770055-56770056
GRCh38: 17:58692694-58692695
17 RAD51C NM_058216.3(RAD51C):c.565G>T (p.Gly189Ter) SNV Pathogenic 937906 GRCh37: 17:56774214-56774214
GRCh38: 17:58696853-58696853
18 RAD51C NM_058216.3(RAD51C):c.704del (p.Lys235fs) Deletion Pathogenic 967734 GRCh37: 17:56780687-56780687
GRCh38: 17:58703326-58703326
19 RAD51C NM_058216.3(RAD51C):c.274G>T (p.Glu92Ter) SNV Pathogenic 970283 GRCh37: 17:56772420-56772420
GRCh38: 17:58695059-58695059
20 RAD51C NM_058216.3(RAD51C):c.597_603del (p.Phe199fs) Deletion Pathogenic 952558 GRCh37: 17:56780580-56780586
GRCh38: 17:58703219-58703225
21 RAD51C NC_000017.10:g.(?_56769999)_(56787357_?)del Deletion Pathogenic 471420 GRCh37: 17:56769999-56787357
GRCh38:
22 RAD51C NM_058216.3(RAD51C):c.312T>A (p.Cys104Ter) SNV Pathogenic 487252 rs1555593715 GRCh37: 17:56772458-56772458
GRCh38: 17:58695097-58695097
23 RAD51C NM_058216.3(RAD51C):c.589G>T (p.Glu197Ter) SNV Pathogenic 538770 rs1555597094 GRCh37: 17:56780574-56780574
GRCh38: 17:58703213-58703213
24 RAD51C NM_058216.3(RAD51C):c.50del (p.Phe17fs) Deletion Pathogenic 538780 rs1555591851 GRCh37: 17:56770052-56770052
GRCh38: 17:58692691-58692691
25 RAD51C NM_058216.3(RAD51C):c.73delinsTTC (p.Val25fs) Indel Pathogenic 567160 rs1567782936 GRCh37: 17:56770077-56770077
GRCh38: 17:58692716-58692716
26 RAD51C NM_058216.3(RAD51C):c.447_448delinsT (p.Gly150fs) Indel Pathogenic 645241 rs1598460178 GRCh37: 17:56774096-56774097
GRCh38: 17:58696735-58696736
27 RAD51C NM_058216.3(RAD51C):c.648_649CA[1] (p.Thr217fs) Microsatellite Pathogenic 852120 GRCh37: 17:56780632-56780633
GRCh38: 17:58703271-58703272
28 RAD51C NM_058216.3(RAD51C):c.379_380insG (p.Pro127fs) Insertion Pathogenic 860928 GRCh37: 17:56772525-56772526
GRCh38: 17:58695164-58695165
29 RAD51C NM_058216.2(RAD51C):c.(?_-1)_837+?del Deletion Pathogenic 219702 GRCh37: 17:56770004-56787351
GRCh38: 17:58692643-58709990
30 RAD51C NM_058216.2(RAD51C):c.706-?_*120del Deletion Pathogenic 220591 GRCh37: 17:56787220-56811703
GRCh38: 17:58709859-58734342
31 RAD51C NM_058216.2(RAD51C):c.572-?_*120del Deletion Pathogenic 220726 GRCh37: 17:56780557-56811703
GRCh38: 17:58703196-58734342
32 RAD51C NM_058216.2(RAD51C):c.966-?_1026+?del Deletion Pathogenic 219988 GRCh37: 17:56809845-56809905
GRCh38: 17:58732484-58732544
33 RAD51C NM_058216.2(RAD51C):c.572-?_*(1_?)del Deletion Pathogenic 219825 GRCh37: 17:56780557-56811584
GRCh38: 17:58703196-58734223
34 RAD51C NC_000017.11:g.(?_58720746)_(58734342_?)del Deletion Pathogenic 417480 GRCh37: 17:56798107-56811703
GRCh38: 17:58720746-58734342
35 RAD51C NC_000017.11:g.(?_58703196)_(58709990_?)del Deletion Pathogenic 417479 GRCh37: 17:56780557-56787351
GRCh38: 17:58703196-58709990
36 RAD51C NC_000017.11:g.(?_58692638)_(58734228_?)del Deletion Pathogenic 471421 GRCh37: 17:56769999-56811589
GRCh38: 17:58692638-58734228
37 RAD51C NC_000017.11:g.(?_58720740)_(58724106_?)del Deletion Pathogenic 471426 GRCh37: 17:56798101-56801467
GRCh38: 17:58720740-58724106
38 RAD51C NM_058216.3(RAD51C):c.31C>T (p.Gln11Ter) SNV Pathogenic 575818 rs1567782755 GRCh37: 17:56770035-56770035
GRCh38: 17:58692674-58692674
39 RAD51C NM_058216.3(RAD51C):c.313_314insA (p.Ser105fs) Insertion Pathogenic 959376 GRCh37: 17:56772459-56772460
GRCh38: 17:58695098-58695099
40 RAD51C NC_000017.11:g.(?_58720740)_(58720818_?)del Deletion Pathogenic 538800 GRCh37: 17:56798101-56798179
GRCh38: 17:58720740-58720818
41 RAD51C NC_000017.11:g.(?_58696687)_(58696865_?)del Deletion Pathogenic 583964 GRCh37: 17:56774048-56774226
GRCh38: 17:58696687-58696865
42 RAD51C NC_000017.11:g.(?_58709849)_(58734232_?)del Deletion Pathogenic 584295 GRCh37: 17:56787210-56811593
GRCh38: 17:58709849-58734232
43 RAD51C NC_000017.11:g.(?_58692634)_(58692798_?)del Deletion Pathogenic 646951 GRCh37: 17:56769995-56770159
GRCh38: 17:58692634-58692798
44 RAD51C NC_000017.11:g.(?_58703186)_(58703339_?)del Deletion Pathogenic 650713 GRCh37: 17:56780547-56780700
GRCh38: 17:58703186-58703339
45 RAD51C NC_000017.11:g.(?_58692634)_(58710000_?)del Deletion Pathogenic 651825 GRCh37: 17:56769995-56787361
GRCh38: 17:58692634-58710000
46 RAD51C NC_000017.11:g.(?_58732474)_(58734232_?)del Deletion Pathogenic 653520 GRCh37: 17:56809835-56811593
GRCh38: 17:58732474-58734232
47 RAD51C NC_000017.11:g.(?_58703186)_(58734232_?)del Deletion Pathogenic 658445 GRCh37: 17:56780547-56811593
GRCh38: 17:58703186-58734232
48 RAD51C NC_000017.11:g.(?_58720736)_(58734232_?)del Deletion Pathogenic 663955 GRCh37: 17:56798097-56811593
GRCh38: 17:58720736-58734232
49 RAD51C NM_058216.3(RAD51C):c.186_187del (p.Gln62fs) Deletion Pathogenic 141999 rs587782170 GRCh37: 17:56772331-56772332
GRCh38: 17:58694970-58694971
50 RAD51C NM_058216.3(RAD51C):c.363_371delinsC (p.Glu122fs) Indel Pathogenic 582374 rs1567786509 GRCh37: 17:56772509-56772517
GRCh38: 17:58695148-58695156

UniProtKB/Swiss-Prot genetic disease variations for Fanconi Anemia, Complementation Group O:

72
# Symbol AA change Variation ID SNP ID
1 RAD51C p.Arg258His VAR_064032 rs267606997

Expression for Fanconi Anemia, Complementation Group O

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

Pathways for Fanconi Anemia, Complementation Group O

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.55 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
2
Show member pathways
12.47 FANCG FANCF FANCE FANCD2 FANCC FANCA
3 12.14 UBE2T FANCD2 FANCB FANCA
4 11.83 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
5
Show member pathways
11.76 SLX4 RAD51C PALB2
6
Show member pathways
11.72 FANCL FANCG FANCF FANCE FANCD2 FANCC
7 11.16 FANCL FANCG FANCF FANCE FANCD2 FANCC
8 10.95 UBE2T FANCI

GO Terms for Fanconi Anemia, Complementation Group O

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.09 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
2 nucleoplasm GO:0005654 9.89 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
3 Fanconi anaemia nuclear complex GO:0043240 9.32 FANCM FANCL FANCG FANCF FANCE FANCC
4 Holliday junction resolvase complex GO:0048476 9.26 SLX4 RAD51C

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 interstrand cross-link repair GO:0036297 10 UBE2T SLX4 FANCM FANCL FANCI FANCG
2 cellular response to DNA damage stimulus GO:0006974 9.89 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
3 DNA recombination GO:0006310 9.61 SLX4 RAD51C PALB2
4 protein monoubiquitination GO:0006513 9.55 UBE2T FANCL
5 DNA repair GO:0006281 9.55 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
6 regulation of DNA-binding transcription factor activity GO:0051090 9.54 FANCA FANCD2
7 double-strand break repair via homologous recombination GO:0000724 9.54 SLX4 RAD51C PALB2
8 response to gamma radiation GO:0010332 9.52 FANCD2 ERCC6
9 brain morphogenesis GO:0048854 9.51 FANCD2 FANCC
10 neuronal stem cell population maintenance GO:0097150 9.49 FANCD2 FANCC
11 resolution of meiotic recombination intermediates GO:0000712 9.48 SLX4 FANCM
12 regulation of regulatory T cell differentiation GO:0045589 9.46 FANCD2 FANCA
13 gamete generation GO:0007276 9.43 FANCL FANCD2 FANCC
14 positive regulation of double-strand break repair via homologous recombination GO:1905168 9.4 FANCB ERCC6
15 regulation of CD40 signaling pathway GO:2000348 9.32 FANCD2 FANCA

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.27 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
2 chromatin binding GO:0003682 9.62 UBE2T FANCM FAAP24 ERCC6
3 DNA binding GO:0003677 9.56 SLX4 RAD51C PALB2 FANCM FANCI FAAP24
4 DNA polymerase binding GO:0070182 9.26 FANCI FANCD2
5 four-way junction DNA binding GO:0000400 9.16 RAD51C FANCM
6 crossover junction endodeoxyribonuclease activity GO:0008821 8.62 SLX4 RAD51C

Sources for Fanconi Anemia, Complementation Group O

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....