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FANCN
MCID: FNC023
MIFTS: 47

Fanconi Anemia, Complementation Group N (FANCN)

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 N

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MalaCards integrated aliases for Fanconi Anemia, Complementation Group N:

Name: Fanconi Anemia, Complementation Group N 57 29 13 6 39
Fanconi Anemia Complementation Group N 12 73 15
Fancn 57 12 73

Characteristics:

HPO:

31
fanconi anemia, complementation group n:
Inheritance autosomal 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)


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Summaries for Fanconi Anemia, Complementation Group N

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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. (610832) (Updated 05-Mar-2021)

MalaCards based summary : Fanconi Anemia, Complementation Group N, also known as fanconi anemia complementation group n, is related to sporadic breast cancer and fanconi anemia, complementation group b. An important gene associated with Fanconi Anemia, Complementation Group N is PALB2 (Partner And Localizer Of BRCA2), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. Affiliated tissues include bone marrow and breast, and related phenotypes are nephroblastoma and neuroblastoma

Disease Ontology : 12 A Fanconi anemia that has material basis in compound heterozygous mutation in the PALB2 gene on chromosome 16p12.

UniProtKB/Swiss-Prot : 73 Fanconi anemia complementation group N: 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.

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Related Diseases for Fanconi Anemia, Complementation Group N

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

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 sporadic breast cancer 29.4 RAD51C PALB2 FANCF FANCD2 BRCA2
2 fanconi anemia, complementation group b 28.8 FANCL FANCG FANCF FANCE FANCD2 FANCC
3 deficiency anemia 28.4 H2AC18 FANCG FANCF FANCE FANCD2 FANCC
4 fanconi anemia, complementation group a 25.7 UBE2T SLX4 RAD51C PALB2 H2AC18 FANCM
5 fanconi anemia, complementation group j 25.6 UBE2T SLX4 RAD51C PALB2 H2AC18 FANCM
6 maternal uniparental disomy 10.3 SLX4 FANCA
7 maternal uniparental disomy of chromosome 16 10.3 SLX4 FANCA
8 interstitial nephritis, karyomegalic 10.2 SLX4 FANCI FANCD2
9 xeroderma pigmentosum, complementation group g 10.2 SLX4 H2AC18 ERCC6
10 pituitary stalk interruption syndrome 10.2 FANCG FANCD2 FANCA
11 xfe progeroid syndrome 10.1 SLX4 ERCC6
12 bap1 tumor predisposition syndrome 10.1 PALB2 BRCA2
13 vacterl with hydrocephalus 10.1 FANCL FANCB
14 hereditary site-specific ovarian cancer syndrome 10.1 RAD51C BRCA2
15 vacterl association 10.1 FANCL FANCI FANCB
16 cervical adenoma malignum 10.1 PALB2 BRCA2
17 vacterl association, x-linked, with or without hydrocephalus 10.1 FANCL FANCB
18 breast-ovarian cancer, familial 1 10.1 RAD51C PALB2 BRCA2
19 fallopian tube disease 10.0 RAD51C PALB2 BRCA2
20 autosomal recessive cerebellar ataxia 10.0 H2AC18 FANCB ERCC6
21 fallopian tube carcinoma 10.0 RAD51C PALB2 BRCA2
22 peliosis hepatis 10.0 FANCM FANCG FANCC FANCA
23 gastric cancer, hereditary diffuse 10.0 RAD51C PALB2 BRCA2
24 severe combined immunodeficiency with sensitivity to ionizing radiation 10.0 H2AC18 ERCC6
25 malignant ovarian surface epithelial-stromal neoplasm 10.0 H2AC18 ERCC6 BRCA2
26 pancytopenia 10.0 H2AC18 FANCG FANCC FANCA
27 dysplastic nevus syndrome 10.0 PALB2 BRCA2
28 ovary epithelial cancer 10.0 H2AC18 ERCC6 BRCA2
29 peritoneum cancer 10.0 RAD51C PALB2 H2AC18 BRCA2
30 dyskeratosis congenita 10.0 SLX4 H2AC18 FANCC FANCA
31 breast cancer 9.9
32 xeroderma pigmentosum, complementation group f 9.9 SLX4 FANCM FANCD2 FAAP24 ERCC6
33 fanconi anemia, complementation group l 9.9 UBE2T FANCL FANCD2
34 bloom syndrome 9.9 FANCM FANCC FANCA BRCA2
35 lynch syndrome 9.8 RAD51C PALB2 H2AC18 ERCC6 BRCA2
36 diffuse midline glioma, h3 k27m-mutant 9.8 H2AC18 BRIP1 BRCA2
37 cerebellar disease 9.8 H2AC18 FANCB ERCC6 BRCA2
38 nijmegen breakage syndrome 9.8 H2AC18 FANCF FANCD2 FANCB ERCC6
39 tracheoesophageal fistula with or without esophageal atresia 9.7 PALB2 FANCC BRIP1 BRCA2
40 li-fraumeni syndrome 9.7 RAD51C PALB2 BRIP1 BRCA2
41 cowden syndrome 9.7 RAD51C PALB2 BRIP1 BRCA2
42 fanconi anemia, complementation group e 9.7 FANCG FANCF FANCE FANCD2 FANCC FANCA
43 premature menopause 9.6 RAD51C FANCA ERCC6 BRCA2
44 esophageal atresia/tracheoesophageal fistula 9.6 FANCB FANCA BRIP1 BRCA2
45 hereditary breast ovarian cancer syndrome 9.4 RAD51C PALB2 FANCM FANCG BRIP1 BRCA2
46 squamous cell carcinoma, head and neck 9.4 H2AC18 FANCL FANCG FANCF FANCE FANCD2
47 microcephaly 9.4 SLX4 RAD51C FANCI FANCE FANCA ERCC6
48 fanconi anemia, complementation group f 9.4 FANCG FANCF FANCE FANCD2 FANCC FANCA
49 seckel syndrome 9.2 H2AC18 FANCM FANCL FANCI FANCE FANCD2
50 fanconi anemia, complementation group i 9.2 H2AC18 FANCM FANCL FANCI FANCF FANCD2

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



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

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Human phenotypes related to Fanconi Anemia, Complementation Group N:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 nephroblastoma 31 occasional (7.5%) HP:0002667
2 neuroblastoma 31 occasional (7.5%) HP:0003006
3 short neck 31 HP:0000470
4 hypertelorism 31 HP:0000316
5 microcephaly 31 HP:0000252
6 postnatal growth retardation 31 HP:0008897
7 epicanthus 31 HP:0000286
8 ventricular septal defect 31 HP:0001629
9 short thumb 31 HP:0009778
10 cafe-au-lait spot 31 HP:0000957
11 medulloblastoma 31 HP:0002885
12 aplastic anemia 31 HP:0001915
13 chromosomal breakage induced by crosslinking agents 31 HP:0003221

Clinical features from OMIM®:

610832 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group N 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 9.98 BRCA2 ERCC6 FANCA FANCD2 PALB2 UBE2T
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.98 BRCA2 ERCC6 FANCA FANCD2 FANCM PALB2
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.98 BRCA2 ERCC6 FANCA FANCD2 UBE2T FAAP24
4 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 9.77 FANCM
5 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.77 BRIP1 FANCA FANCD2 FANCM PALB2 UBE2T
6 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.77 BRCA2 BRIP1 FANCA FANCM PALB2 UBE2T

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 BRCA2 BRIP1 ERCC6 FANCA FANCB FANCC
2 endocrine/exocrine gland MP:0005379 9.97 BRCA2 BRIP1 FANCA FANCB FANCC FANCD2
3 neoplasm MP:0002006 9.56 BRCA2 BRIP1 ERCC6 FANCA FANCD2 FANCF
4 reproductive system MP:0005389 9.44 BRCA2 BRIP1 FANCA FANCB FANCC FANCD2
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Drugs & Therapeutics for Fanconi Anemia, Complementation Group N

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

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Genetic Tests for Fanconi Anemia, Complementation Group N

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Genetic tests related to Fanconi Anemia, Complementation Group N:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group N 29 PALB2
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Anatomical Context for Fanconi Anemia, Complementation Group N

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

40
Bone Marrow, Breast
Sources

Publications for Fanconi Anemia, Complementation Group N

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Articles related to Fanconi Anemia, Complementation Group N:

(show all 48)
# Title Authors PMID Year
1
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. 6 61 57
17200671 2007
2
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. 57 6
17200672 2007
3
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. 6 61
17200668 2007
4
Fanconi anemia: at the crossroads of DNA repair. 57
21568838 2011
5
Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey. 61
33224012 2020
6
Frequency of heterozygous germline pathogenic variants in genes for Fanconi anemia in patients with non-BRCA1/BRCA2 breast cancer: a meta-analysis. 61
32488392 2020
7
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
8
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility. 61
28837162 2018
9
PALB2 (partner and localizer of BRCA2). 61
31413733 2018
10
[PALB2 as Another Candidate Gene for Genetic Testing in Patients with Hereditary Breast Cancer in Czech Republic]. 61
26691940 2016
11
ATM-dependent Phosphorylation of the Fanconi Anemia Protein PALB2 Promotes the DNA Damage Response. 61
26420486 2015
12
Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics. 61
26254775 2015
13
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. 61
25472942 2015
14
Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup. 61
26064523 2015
15
Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. 61
24141787 2014
16
Hypersensitivities for acetaldehyde and other agents among cancer cells null for clinically relevant Fanconi anemia genes. 61
24200853 2014
17
Breast cancer genes: beyond BRCA1 and BRCA2. 61
23747889 2013
18
Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines. 61
23341105 2013
19
No evidence for PALB2 methylation in high-grade serous ovarian cancer. 61
23587053 2013
20
Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population. 61
23021409 2013
21
Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. 61
23935836 2013
22
Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma. 61
22829014 2012
23
PALB2 interacts with KEAP1 to promote NRF2 nuclear accumulation and function. 61
22331464 2012
24
Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes. 61
21799032 2011
25
Pyrosequencing-based DNA methylation profiling of Fanconi anemia/BRCA pathway genes in laryngeal squamous cell carcinoma. 61
21567085 2011
26
Using mouse models to investigate the biological and physiological consequences of defects in the Fanconi anaemia/breast cancer DNA repair signalling pathway. 61
21557222 2011
27
PALB2/FANCN: recombining cancer and Fanconi anemia. 61
20858716 2010
28
Fanconi anemia gene mutations are not involved in sporadic Wilms tumor. 61
20589654 2010
29
Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer. 61
20722467 2010
30
The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features. 61
19536649 2009
31
Fanconi anemia complementation group FANCD2 protein serine 331 phosphorylation is important for fanconi anemia pathway function and BRCA2 interaction. 61
19861535 2009
32
Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition. 61
19737859 2009
33
Recruitment of fanconi anemia and breast cancer proteins to DNA damage sites is differentially governed by replication. 61
19748364 2009
34
The Fanconi anemia/BRCA gene network in zebrafish: embryonic expression and comparative genomics. 61
19101574 2009
35
Cellular and molecular consequences of defective Fanconi anemia proteins in replication-coupled DNA repair: mechanistic insights. 61
19622404 2009
36
FANCM-FAAP24 and FANCJ: FA proteins that metabolize DNA. 61
19379763 2009
37
PALB2 links BRCA1 and BRCA2 in the DNA-damage response. 61
19268590 2009
38
Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. 61
18302019 2009
39
A possible approach for stem cell gene therapy of Fanconi anemia. 61
19275569 2009
40
Defects of FA/BRCA pathway in lymphoma cell lines. 61
19011769 2008
41
[Search for Fanconi anemia/BRCA pathway defects in lymphoma cell lines]. 61
18841560 2008
42
Promoter hypermethylation of the PALB2 susceptibility gene in inherited and sporadic breast and ovarian cancer. 61
18281473 2008
43
The Fanconi anaemia/BRCA pathway and cancer susceptibility. Searching for new therapeutic targets. 61
18258506 2008
44
[A role for PALB2/FANCN in breast cancer predisposition?]. 61
18272064 2008
45
Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families. 61
18414782 2008
46
The Fanconi anemia pathway and ubiquitin. 61
18047734 2007
47
Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. 61
17768402 2007
48
Analysis of PALB2/FANCN-associated breast cancer families. 61
17420451 2007
Sources

Variations for Fanconi Anemia, Complementation Group N

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

6 (show top 50) (show all 109)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PALB2 PALB2:c.49-?_2586+?del Deletion Pathogenic 1244
2 PALB2 NC_000016.10:g.(23614092_23621361)_(23641357_?)del Deletion Pathogenic 830081 16:23625413-23652678
3 PALB2 NC_000016.10:g.(23626398_23629203)_(23638130_23641109)del Deletion Pathogenic 830085 16:23637719-23652430
4 PALB2 NM_024675.4(PALB2):c.3294_3298del (p.Lys1098fs) Deletion Pathogenic 830202 16:23619237-23619241 16:23607916-23607920
5 PALB2 NM_024675.3(PALB2):c.1676_1677delinsG (p.Gln559fs) Indel Pathogenic 126614 rs515726073 16:23646190-23646191 16:23634869-23634870
6 PALB2 NM_024675.3(PALB2):c.1653T>A (p.Tyr551Ter) SNV Pathogenic 1243 rs118203997 16:23646214-23646214 16:23634893-23634893
7 PALB2 NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) SNV Pathogenic 1245 rs118203998 16:23614792-23614792 16:23603471-23603471
8 PALB2 NM_024675.4(PALB2):c.755_756CT[1] (p.Leu253fs) Microsatellite Pathogenic 126768 rs180177092 16:23647109-23647110 16:23635788-23635789
9 PALB2 NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) SNV Pathogenic 128117 rs180177100 16:23646627-23646627 16:23635306-23635306
10 PALB2 NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter) SNV Pathogenic 128144 rs118203998 16:23614792-23614792 16:23603471-23603471
11 PALB2 NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter) SNV Pathogenic 128144 rs118203998 16:23614792-23614792 16:23603471-23603471
12 PALB2 NM_024675.3(PALB2):c.106C>T (p.Gln36Ter) SNV Pathogenic 402288 rs757369748 16:23649393-23649393 16:23638072-23638072
13 PALB2 NM_024675.4(PALB2):c.2393_2394insCT (p.Thr799fs) Insertion Pathogenic 126651 rs180177113 16:23641081-23641082 16:23629760-23629761
14 PALB2 NM_024675.3(PALB2):c.2962C>T (p.Gln988Ter) SNV Pathogenic 1246 rs118203999 16:23634324-23634324 16:23623003-23623003
15 PALB2 NM_024675.3(PALB2):c.2834+1G>T SNV Pathogenic 143968 rs587776419 16:23635329-23635329 16:23624008-23624008
16 PALB2 NM_024675.3(PALB2):c.395del (p.Val132fs) Deletion Pathogenic 126748 rs180177085 16:23647472-23647472 16:23636151-23636151
17 PALB2 NM_024675.3(PALB2):c.3323del (p.Tyr1108fs) Deletion Pathogenic 126734 rs180177135 16:23619212-23619212 16:23607891-23607891
18 PALB2 NM_024675.3(PALB2):c.3116del (p.Asn1039fs) Deletion Pathogenic 126715 rs180177133 16:23625410-23625410 16:23614089-23614089
19 PALB2 NM_024675.3(PALB2):c.187C>T (p.Leu63Phe) SNV Uncertain significance 182780 rs730881899 16:23649195-23649195 16:23637874-23637874
20 PALB2 NM_024675.3(PALB2):c.968C>A (p.Ala323Glu) SNV Uncertain significance 182760 rs730881882 16:23646899-23646899 16:23635578-23635578
21 PALB2 NM_024675.3(PALB2):c.1115G>C (p.Ser372Thr) SNV Uncertain significance 188377 rs786204243 16:23646752-23646752 16:23635431-23635431
22 PALB2 NM_024675.3(PALB2):c.1316G>T (p.Gly439Val) SNV Uncertain significance 188096 rs537258442 16:23646551-23646551 16:23635230-23635230
23 PALB2 NM_024675.3(PALB2):c.1340C>A (p.Ala447Glu) SNV Uncertain significance 480285 rs1555461334 16:23646527-23646527 16:23635206-23635206
24 PALB2 NM_024675.3(PALB2):c.1348A>C (p.Asn450His) SNV Uncertain significance 128119 rs62625274 16:23646519-23646519 16:23635198-23635198
25 PALB2 NM_024675.3(PALB2):c.1526G>A (p.Gly509Asp) SNV Uncertain significance 186732 rs786203176 16:23646341-23646341 16:23635020-23635020
26 PALB2 NM_024675.3(PALB2):c.2067G>A (p.Ser689=) SNV Uncertain significance 185889 rs371149159 16:23641408-23641408 16:23630087-23630087
27 PALB2 NM_024675.3(PALB2):c.2277A>G (p.Gln759=) SNV Uncertain significance 185872 rs786202524 16:23641198-23641198 16:23629877-23629877
28 PALB2 NM_024675.3(PALB2):c.2773G>C (p.Val925Leu) SNV Uncertain significance 126681 rs180177125 16:23635391-23635391 16:23624070-23624070
29 PALB2 NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) SNV Uncertain significance 126740 rs62625284 16:23614913-23614913 16:23603592-23603592
30 PALB2 NM_024675.3(PALB2):c.3428T>C (p.Leu1143Pro) SNV Uncertain significance 126741 rs62625284 16:23614913-23614913 16:23603592-23603592
31 PALB2 NM_024675.3(PALB2):c.11C>T (p.Pro4Leu) SNV Uncertain significance 126593 rs45619737 16:23652468-23652468 16:23641147-23641147
32 PALB2 NM_024675.3(PALB2):c.2773G>C (p.Val925Leu) SNV Uncertain significance 126681 rs180177125 16:23635391-23635391 16:23624070-23624070
33 PALB2 NM_024675.3(PALB2):c.2674G>A (p.Glu892Lys) SNV Uncertain significance 126672 rs45476495 16:23637631-23637631 16:23626310-23626310
34 PALB2 NM_024675.3(PALB2):c.2586+10A>G SNV Uncertain significance 126661 rs373321719 16:23640515-23640515 16:23629194-23629194
35 PALB2 NM_024675.3(PALB2):c.495C>T (p.Gly165=) SNV Uncertain significance 186120 rs200937538 16:23647372-23647372 16:23636051-23636051
36 PALB2 NM_024675.3(PALB2):c.94C>G (p.Leu32Val) SNV Uncertain significance 126781 rs151316635 16:23649405-23649405 16:23638084-23638084
37 PALB2 NM_024675.3(PALB2):c.1767G>A (p.Thr589=) SNV Uncertain significance 230075 rs769849072 16:23641708-23641708 16:23630387-23630387
38 PALB2 NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) SNV Uncertain significance 187141 rs749494645 16:23646488-23646488 16:23635167-23635167
39 PALB2 NM_024675.3(PALB2):c.733G>C (p.Ala245Pro) SNV Uncertain significance 318560 rs886051831 16:23647134-23647134 16:23635813-23635813
40 PALB2 NM_024675.3(PALB2):c.2851T>C (p.Ser951Pro) SNV Uncertain significance 126691 rs149522412 16:23634435-23634435 16:23623114-23623114
41 PALB2 NM_024675.3(PALB2):c.-149G>A SNV Uncertain significance 318562 rs886051832 16:23652627-23652627 16:23641306-23641306
42 PALB2 NM_024675.3(PALB2):c.1955G>A (p.Ser652Asn) SNV Uncertain significance 141528 rs587781818 16:23641520-23641520 16:23630199-23630199
43 PALB2 NM_024675.3(PALB2):c.2509G>A (p.Glu837Lys) SNV Uncertain significance 128133 rs587778587 16:23640966-23640966 16:23629645-23629645
44 PALB2 NM_024675.3(PALB2):c.113C>G (p.Ala38Gly) SNV Uncertain significance 318561 rs371875379 16:23649269-23649269 16:23637948-23637948
45 PALB2 NM_024675.3(PALB2):c.2100A>T (p.Ser700=) SNV Uncertain significance 184830 rs757145884 16:23641375-23641375 16:23630054-23630054
46 PALB2 NM_024675.3(PALB2):c.2849C>T (p.Ser950Phe) SNV Uncertain significance 231438 rs876659160 16:23634437-23634437 16:23623116-23623116
47 PALB2 NM_024675.3(PALB2):c.897T>C (p.Ser299=) SNV Uncertain significance 126776 rs180177095 16:23646970-23646970 16:23635649-23635649
48 PALB2 NM_024675.3(PALB2):c.828C>T (p.His276=) SNV Uncertain significance 461024 rs911713488 16:23647039-23647039 16:23635718-23635718
49 PALB2 NM_024675.3(PALB2):c.718C>A (p.Pro240Thr) SNV Uncertain significance 461019 rs757567654 16:23647149-23647149 16:23635828-23635828
50 PALB2 NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn) SNV Uncertain significance 241541 rs878855107 16:23641274-23641274 16:23629953-23629953
Sources

Expression for Fanconi Anemia, Complementation Group N

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

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

# Super pathways Score Top Affiliating Genes
1
DNA Double-Strand Break Repair 65
Show member pathways
 12.6 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
2
Chks in Checkpoint Regulation 63
Show member pathways
 12.53 FANCG FANCF FANCE FANCD2 FANCC FANCA
3
DNA Damage 4
12.32 UBE2T FANCD2 FANCB FANCA BRIP1 BRCA2
4
Homologous DNA Pairing and Strand Exchange 65
Show member pathways
 12.13 SLX4 RAD51C PALB2 BRIP1 BRCA2
5
Resolution of D-loop Structures through Holliday Junction Intermediates 65
Show member pathways
 11.98 SLX4 RAD51C PALB2 BRIP1 BRCA2
6
Fanconi anemia pathway 36 65
11.88 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
7
BRCA1 Pathway 63
Show member pathways
 11.78 FANCL FANCG FANCF FANCE FANCD2 FANCC
8
BARD1 signaling events 1
11.16 FANCL FANCG FANCF FANCE FANCD2 FANCC
Sources

GO Terms for Fanconi Anemia, Complementation Group N

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.16 UBE2T SLX4 RAD51C PALB2 H2AC18 FANCM
2 nucleoplasm GO:0005654 9.93 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 N according to GeneCards Suite gene sharing:

(show all 19)
# 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 9.93 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
3 DNA recombination GO:0006310 9.71 SLX4 RAD51C PALB2 BRCA2
4 DNA duplex unwinding GO:0032508 9.69 FANCM ERCC6 BRIP1
5 double-strand break repair via homologous recombination GO:0000724 9.62 SLX4 RAD51C PALB2 BRCA2
6 response to gamma radiation GO:0010332 9.61 FANCD2 ERCC6 BRCA2
7 DNA repair GO:0006281 9.6 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
8 male meiosis I GO:0007141 9.58 RAD51C BRCA2
9 neuronal stem cell population maintenance GO:0097150 9.58 FANCD2 FANCC
10 response to X-ray GO:0010165 9.57 ERCC6 BRCA2
11 resolution of meiotic recombination intermediates GO:0000712 9.56 SLX4 FANCM
12 nucleotide-excision repair GO:0006289 9.56 SLX4 FANCC BRIP1 BRCA2
13 regulation of regulatory T cell differentiation GO:0045589 9.55 FANCD2 FANCA
14 positive regulation of double-strand break repair via homologous recombination GO:1905168 9.54 FANCB ERCC6
15 gamete generation GO:0007276 9.54 FANCL FANCD2 FANCC
16 inner cell mass cell proliferation GO:0001833 9.52 PALB2 BRCA2
17 telomere maintenance via recombination GO:0000722 9.49 RAD51C BRCA2
18 double-strand break repair involved in meiotic recombination GO:1990918 9.48 FANCD2 BRIP1
19 regulation of CD40 signaling pathway GO:2000348 9.46 FANCD2 FANCA

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.23 UBE2T SLX4 RAD51C PALB2 H2AC18 FANCM
2 chromatin binding GO:0003682 9.55 UBE2T FANCM FAAP24 ERCC6 BRIP1
3 DNA polymerase binding GO:0070182 9.37 FANCI FANCD2
4 DNA binding GO:0003677 9.36 SLX4 RAD51C PALB2 H2AC18 FANCM FANCI
5 four-way junction DNA binding GO:0000400 9.32 RAD51C FANCM
6 crossover junction endodeoxyribonuclease activity GO:0008821 8.96 SLX4 RAD51C
Sources

Sources for Fanconi Anemia, Complementation Group N

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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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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