FANCN
MCID: FNC023
MIFTS: 48

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

Aliases & Classifications for Fanconi Anemia, Complementation Group N

MalaCards integrated aliases for Fanconi Anemia, Complementation Group N:

Name: Fanconi Anemia, Complementation Group N 56 29 13 6 39
Fanconi Anemia Complementation Group N 12 73 15
Fancn 56 12 73

Characteristics:

HPO:

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


Classifications:



Summaries for Fanconi Anemia, Complementation Group N

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). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (610832)

MalaCards based summary : Fanconi Anemia, Complementation Group N, also known as fanconi anemia complementation group n, is related to maternal uniparental disomy and maternal uniparental disomy of chromosome 16. 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, bone 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.

Related Diseases for Fanconi Anemia, Complementation Group N

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 52)
# Related Disease Score Top Affiliating Genes
1 maternal uniparental disomy 10.4 SLX4 FANCA
2 maternal uniparental disomy of chromosome 16 10.4 SLX4 FANCA
3 interstitial nephritis, karyomegalic 10.2 SLX4 FANCI FANCD2
4 severe combined immunodeficiency with sensitivity to ionizing radiation 10.2 H2AC18 ERCC6
5 peliosis hepatis 10.2 FANCG FANCA
6 xfe progeroid syndrome 10.2 SLX4 ERCC6
7 hereditary site-specific ovarian cancer syndrome 10.1 RAD51C BRCA2
8 ovarian carcinosarcoma 10.1 H2AC18 BRCA2
9 cervical adenoma malignum 10.1 PALB2 BRCA2
10 breast-ovarian cancer, familial 1 10.0 RAD51C PALB2 BRCA2
11 vacterl association 10.0 FANCL FANCI FANCB
12 fallopian tube disease 10.0 RAD51C PALB2 BRCA2
13 tracheoesophageal fistula with or without esophageal atresia 10.0 PALB2 FANCC BRCA2
14 fallopian tube carcinoma 10.0 RAD51C PALB2 BRCA2
15 ovary epithelial cancer 10.0 H2AC18 ERCC6 BRCA2
16 trichothiodystrophy 1, photosensitive 9.9 H2AC18 ERCC6 BRIP1
17 malignant ovarian surface epithelial-stromal neoplasm 9.9 H2AC18 ERCC6 BRCA2
18 bloom syndrome 9.9 FANCM FANCA BRCA2
19 peritoneum cancer 9.9 RAD51C PALB2 H2AC18 BRCA2
20 dysplastic nevus syndrome 9.9 PALB2 BRCA2
21 xeroderma pigmentosum, complementation group f 9.9 SLX4 FANCM FANCD2 FAAP24 ERCC6
22 li-fraumeni syndrome 9.8 RAD51C PALB2 BRCA2
23 nijmegen breakage syndrome 9.8 H2AC18 FANCF FANCD2 FANCB
24 familial ovarian cancer 9.8 BRIP1 BRCA2
25 fanconi anemia, complementation group l 9.8 UBE2T FANCL FANCD2
26 lynch syndrome 9.7 RAD51C PALB2 H2AC18 ERCC6 BRCA2
27 tumor predisposition syndrome 9.7 PALB2 BRCA2
28 autosomal recessive cerebellar ataxia 9.7 H2AC18 FANCB ERCC6 BRCA2
29 sporadic breast cancer 9.6 RAD51C PALB2 FANCF FANCD2 BRCA2
30 cowden syndrome 9.5 RAD51C PALB2 BRIP1 BRCA2
31 fanconi anemia, complementation group e 9.4 FANCG FANCF FANCE FANCD2 FANCC FANCA
32 fanconi anemia, complementation group i 9.3 H2AC18 FANCM FANCI FANCF FANCD2 FANCA
33 hereditary breast ovarian cancer syndrome 9.3 RAD51C PALB2 FANCG BRIP1 BRCA2
34 fanconi anemia, complementation group c 9.2 FANCL FANCI FANCF FANCD2 FANCC FANCB
35 esophageal atresia/tracheoesophageal fistula 9.2 FANCC FANCB FANCA BRIP1 BRCA2
36 fanconi anemia, complementation group d2 9.1 H2AC18 FANCI FANCG FANCD2 FANCB FANCA
37 seckel syndrome 9.1 H2AC18 FANCM FANCI FANCE FANCD2 FANCA
38 fanconi anemia, complementation group f 8.9 H2AC18 FANCG FANCF FANCE FANCD2 FANCC
39 squamous cell carcinoma, head and neck 8.9 H2AC18 FANCL FANCG FANCF FANCE FANCD2
40 fanconi anemia, complementation group b 8.9 FANCL FANCG FANCF FANCE FANCD2 FANCC
41 esophageal atresia 8.6 FANCM FANCL FANCI FANCG FANCF FANCE
42 xeroderma pigmentosum, variant type 8.3 SLX4 H2AC18 FANCM FANCL FANCI FANCG
43 fanconi anemia, complementation group u 8.1 UBE2T SLX4 RAD51C FANCM FANCL FANCI
44 fanconi anemia, complementation group v 7.9 UBE2T SLX4 FANCM FANCL FANCI FANCE
45 fanconi anemia, complementation group p 7.3 SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
46 fanconi anemia, complementation group r 7.3 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
47 fanconi anemia, complementation group q 7.3 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
48 fanconi anemia, complementation group t 7.0 UBE2T SLX4 H2AC18 FANCM FANCL FANCI
49 fanconi anemia, complementation group o 6.8 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
50 fanconi anemia, complementation group j 6.4 SLX4 RAD51C PALB2 H2AC18 FANCM FANCL

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



Diseases related to Fanconi Anemia, Complementation Group N

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group N

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 hypertelorism 31 HP:0000316
4 short neck 31 HP:0000470
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

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:

45
# 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

Drugs & Therapeutics for Fanconi Anemia, Complementation Group N

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

Genetic Tests for Fanconi Anemia, Complementation Group N

Genetic tests related to Fanconi Anemia, Complementation Group N:

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

Anatomical Context for Fanconi Anemia, Complementation Group N

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

40
Bone Marrow, Bone, Breast, Testes, T Cells

Publications for Fanconi Anemia, Complementation Group N

Articles related to Fanconi Anemia, Complementation Group N:

(show top 50) (show all 51)
# Title Authors PMID Year
1
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. 61 56 6
17200671 2007
2
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. 56 6
17200672 2007
3
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. 61 6
17200668 2007
4
Fanconi anemia: at the crossroads of DNA repair. 56
21568838 2011
5
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 6
19888064 2009
6
Esophageal Atresia / Tracheoesophageal Fistula Overview 6
20301753 2009
7
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
8
Fanconi Anemia 6
20301575 2002
9
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
10
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
11
PALB2 (partner and localizer of BRCA2). 61
31413733 2018
12
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
13
[PALB2 as Another Candidate Gene for Genetic Testing in Patients with Hereditary Breast Cancer in Czech Republic]. 61
26691940 2016
14
ATM-dependent Phosphorylation of the Fanconi Anemia Protein PALB2 Promotes the DNA Damage Response. 61
26420486 2015
15
Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics. 61
26254775 2015
16
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. 61
25472942 2015
17
Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup. 61
26064523 2015
18
Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. 61
24141787 2014
19
Hypersensitivities for acetaldehyde and other agents among cancer cells null for clinically relevant Fanconi anemia genes. 61
24200853 2014
20
Breast cancer genes: beyond BRCA1 and BRCA2. 61
23747889 2013
21
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
22
No evidence for PALB2 methylation in high-grade serous ovarian cancer. 61
23587053 2013
23
Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population. 61
23021409 2013
24
Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. 61
23935836 2013
25
Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma. 61
22829014 2012
26
PALB2 interacts with KEAP1 to promote NRF2 nuclear accumulation and function. 61
22331464 2012
27
Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes. 61
21799032 2011
28
Pyrosequencing-based DNA methylation profiling of Fanconi anemia/BRCA pathway genes in laryngeal squamous cell carcinoma. 61
21567085 2011
29
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
30
PALB2/FANCN: recombining cancer and Fanconi anemia. 61
20858716 2010
31
Fanconi anemia gene mutations are not involved in sporadic Wilms tumor. 61
20589654 2010
32
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
33
The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features. 61
19536649 2009
34
Fanconi anemia complementation group FANCD2 protein serine 331 phosphorylation is important for fanconi anemia pathway function and BRCA2 interaction. 61
19861535 2009
35
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
36
Recruitment of fanconi anemia and breast cancer proteins to DNA damage sites is differentially governed by replication. 61
19748364 2009
37
Cellular and molecular consequences of defective Fanconi anemia proteins in replication-coupled DNA repair: mechanistic insights. 61
19622404 2009
38
FANCM-FAAP24 and FANCJ: FA proteins that metabolize DNA. 61
19379763 2009
39
The Fanconi anemia/BRCA gene network in zebrafish: embryonic expression and comparative genomics. 61
19101574 2009
40
PALB2 links BRCA1 and BRCA2 in the DNA-damage response. 61
19268590 2009
41
Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. 61
18302019 2009
42
A possible approach for stem cell gene therapy of Fanconi anemia. 61
19275569 2009
43
Defects of FA/BRCA pathway in lymphoma cell lines. 61
19011769 2008
44
[Search for Fanconi anemia/BRCA pathway defects in lymphoma cell lines]. 61
18841560 2008
45
Promoter hypermethylation of the PALB2 susceptibility gene in inherited and sporadic breast and ovarian cancer. 61
18281473 2008
46
[A role for PALB2/FANCN in breast cancer predisposition?]. 61
18272064 2008
47
The Fanconi anaemia/BRCA pathway and cancer susceptibility. Searching for new therapeutic targets. 61
18258506 2008
48
Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families. 61
18414782 2008
49
The Fanconi anemia pathway and ubiquitin. 61
18047734 2007
50
Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. 61
17768402 2007

Variations for Fanconi Anemia, Complementation Group N

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

6 (show top 50) (show all 105) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PALB2 NM_024675.3(PALB2):c.106C>T (p.Gln36Ter)SNV Pathogenic 402288 rs757369748 16:23649393-23649393 16:23638072-23638072
2 PALB2 NM_024675.4(PALB2):c.3294_3298del (p.Lys1098fs)deletion Pathogenic 830202 16:23619237-23619241 16:23607916-23607920
3 PALB2 NC_000016.10:g.(23614092_23621361)_(23641357_?)deldeletion Pathogenic 830081 16:23625413-23652678
4 PALB2 NC_000016.10:g.(23626398_23629203)_(23638130_23641109)deldeletion Pathogenic 830085 16:23637719-23652430
5 PALB2 PALB2:c.49-?_2586+?deldeletion Pathogenic 1244
6 PALB2 NM_024675.3(PALB2):c.2962C>T (p.Gln988Ter)SNV Pathogenic 1246 rs118203999 16:23634324-23634324 16:23623003-23623003
7 PALB2 NM_024675.3(PALB2):c.1676_1677delinsG (p.Gln559fs)indel Pathogenic 126614 rs515726073 16:23646190-23646191 16:23634869-23634870
8 PALB2 NM_024675.4(PALB2):c.2393_2394insCT (p.Thr799fs)insertion Pathogenic 126651 rs180177113 16:23641081-23641082 16:23629760-23629761
9 PALB2 NM_024675.3(PALB2):c.3323del (p.Tyr1108fs)deletion Pathogenic 126734 rs180177135 16:23619212-23619212 16:23607891-23607891
10 PALB2 NM_024675.3(PALB2):c.395del (p.Val132fs)deletion Pathogenic 126748 rs180177085 16:23647472-23647472 16:23636151-23636151
11 PALB2 NM_024675.4(PALB2):c.755_756CT[1] (p.Leu253fs)short repeat Pathogenic 126768 rs180177092 16:23647109-23647110 16:23635788-23635789
12 PALB2 NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)SNV Pathogenic 128117 rs180177100 16:23646627-23646627 16:23635306-23635306
13 PALB2 NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter)SNV Pathogenic 128144 rs118203998 16:23614792-23614792 16:23603471-23603471
14 PALB2 NM_024675.3(PALB2):c.2834+1G>TSNV Pathogenic/Likely pathogenic 143968 rs587776419 16:23635329-23635329 16:23624008-23624008
15 PALB2 NM_024675.3(PALB2):c.3116del (p.Asn1039fs)deletion Pathogenic/Likely pathogenic 126715 rs180177133 16:23625410-23625410 16:23614089-23614089
16 PALB2 NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter)SNV Pathogenic/Likely pathogenic 1245 rs118203998 16:23614792-23614792 16:23603471-23603471
17 PALB2 NM_024675.3(PALB2):c.1653T>A (p.Tyr551Ter)SNV Pathogenic/Likely pathogenic 1243 rs118203997 16:23646214-23646214 16:23634893-23634893
18 PALB2 NM_024675.3(PALB2):c.2996+14T>GSNV Conflicting interpretations of pathogenicity 492207 rs1407045774 16:23634276-23634276 16:23622955-23622955
19 PALB2 NM_024675.4(PALB2):c.388C>T (p.His130Tyr)SNV Conflicting interpretations of pathogenicity 824342 16:23647479-23647479 16:23636158-23636158
20 PALB2 NM_024675.3(PALB2):c.828C>T (p.His276=)SNV Conflicting interpretations of pathogenicity 461024 rs911713488 16:23647039-23647039 16:23635718-23635718
21 PALB2 NM_024675.3(PALB2):c.718C>A (p.Pro240Thr)SNV Conflicting interpretations of pathogenicity 461019 rs757567654 16:23647149-23647149 16:23635828-23635828
22 PALB2 NM_024675.3(PALB2):c.3394T>C (p.Leu1132=)SNV Conflicting interpretations of pathogenicity 460993 rs1282821765 16:23614947-23614947 16:23603626-23603626
23 PALB2 NM_024675.3(PALB2):c.2586+10A>GSNV Conflicting interpretations of pathogenicity 126661 rs373321719 16:23640515-23640515 16:23629194-23629194
24 PALB2 NM_024675.3(PALB2):c.2674G>A (p.Glu892Lys)SNV Conflicting interpretations of pathogenicity 126672 rs45476495 16:23637631-23637631 16:23626310-23626310
25 PALB2 NM_024675.3(PALB2):c.2773G>C (p.Val925Leu)SNV Conflicting interpretations of pathogenicity 126681 16:23635391-23635391 16:23624070-23624070
26 PALB2 NM_024675.3(PALB2):c.1000T>G (p.Tyr334Asp)SNV Conflicting interpretations of pathogenicity 126580 16:23646867-23646867 16:23635546-23635546
27 PALB2 NM_024675.3(PALB2):c.1010T>C (p.Leu337Ser)SNV Conflicting interpretations of pathogenicity 126582 rs45494092 16:23646857-23646857 16:23635536-23635536
28 PALB2 NM_024675.3(PALB2):c.-158G>CSNV Conflicting interpretations of pathogenicity 126571 16:23652636-23652636 16:23641315-23641315
29 PALB2 NM_024675.3(PALB2):c.11C>T (p.Pro4Leu)SNV Conflicting interpretations of pathogenicity 126593 rs45619737 16:23652468-23652468 16:23641147-23641147
30 PALB2 NM_024675.3(PALB2):c.3251C>T (p.Ser1084Leu)SNV Conflicting interpretations of pathogenicity 126727 rs62625271 16:23619284-23619284 16:23607963-23607963
31 PALB2 NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)SNV Conflicting interpretations of pathogenicity 126740 rs62625284 16:23614913-23614913 16:23603592-23603592
32 PALB2 NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)SNV Conflicting interpretations of pathogenicity 126683 rs45478192 16:23635348-23635348 16:23624027-23624027
33 PALB2 NM_024675.3(PALB2):c.2851T>C (p.Ser951Pro)SNV Conflicting interpretations of pathogenicity 126691 rs149522412 16:23634435-23634435 16:23623114-23623114
34 PALB2 NM_024675.3(PALB2):c.298C>T (p.Leu100Phe)SNV Conflicting interpretations of pathogenicity 126698 rs61756147 16:23647569-23647569 16:23636248-23636248
35 PALB2 NM_024675.3(PALB2):c.897T>C (p.Ser299=)SNV Conflicting interpretations of pathogenicity 126776 16:23646970-23646970 16:23635649-23635649
36 PALB2 NM_024675.3(PALB2):c.53A>G (p.Lys18Arg)SNV Conflicting interpretations of pathogenicity 126758 rs138789658 16:23649446-23649446 16:23638125-23638125
37 PALB2 NM_024675.3(PALB2):c.629C>T (p.Pro210Leu)SNV Conflicting interpretations of pathogenicity 126761 rs57605939 16:23647238-23647238 16:23635917-23635917
38 PALB2 NM_024675.3(PALB2):c.3054G>C (p.Glu1018Asp)SNV Conflicting interpretations of pathogenicity 126708 rs183489969 16:23632742-23632742 16:23621421-23621421
39 PALB2 NM_024675.3(PALB2):c.3495G>A (p.Ser1165=)SNV Conflicting interpretations of pathogenicity 126745 rs45439097 16:23614846-23614846 16:23603525-23603525
40 PALB2 NM_024675.3(PALB2):c.1610C>T (p.Ser537Leu)SNV Conflicting interpretations of pathogenicity 182791 rs142103232 16:23646257-23646257 16:23634936-23634936
41 PALB2 NM_024675.3(PALB2):c.1492G>T (p.Asp498Tyr)SNV Conflicting interpretations of pathogenicity 182790 rs75023630 16:23646375-23646375 16:23635054-23635054
42 PALB2 NM_024675.3(PALB2):c.1955G>A (p.Ser652Asn)SNV Conflicting interpretations of pathogenicity 141528 rs587781818 16:23641520-23641520 16:23630199-23630199
43 PALB2 NM_024675.3(PALB2):c.1756G>A (p.Asp586Asn)SNV Conflicting interpretations of pathogenicity 141709 rs587781954 16:23641719-23641719 16:23630398-23630398
44 PALB2 NM_024675.3(PALB2):c.12T>C (p.Pro4=)SNV Conflicting interpretations of pathogenicity 136128 rs567706422 16:23652467-23652467 16:23641146-23641146
45 PALB2 NM_024675.3(PALB2):c.94C>G (p.Leu32Val)SNV Conflicting interpretations of pathogenicity 126781 rs151316635 16:23649405-23649405 16:23638084-23638084
46 PALB2 NM_024675.4(PALB2):c.2379C>T (p.Gly793=)SNV Conflicting interpretations of pathogenicity 128130 rs377626805 16:23641096-23641096 16:23629775-23629775
47 PALB2 NM_024675.3(PALB2):c.2509G>A (p.Glu837Lys)SNV Conflicting interpretations of pathogenicity 128133 rs587778587 16:23640966-23640966 16:23629645-23629645
48 PALB2 NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)SNV Conflicting interpretations of pathogenicity 187141 rs749494645 16:23646488-23646488 16:23635167-23635167
49 PALB2 NM_024675.3(PALB2):c.495C>T (p.Gly165=)SNV Conflicting interpretations of pathogenicity 186120 rs200937538 16:23647372-23647372 16:23636051-23636051
50 PALB2 NM_024675.3(PALB2):c.2277A>G (p.Gln759=)SNV Conflicting interpretations of pathogenicity 185872 rs786202524 16:23641198-23641198 16:23629877-23629877

Expression for Fanconi Anemia, Complementation Group N

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

Pathways for Fanconi Anemia, Complementation Group N

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.6 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
2
Show member pathways
12.53 FANCG FANCF FANCE FANCD2 FANCC FANCA
3 12.32 UBE2T FANCD2 FANCB FANCA BRIP1 BRCA2
4
Show member pathways
12.13 SLX4 RAD51C PALB2 BRIP1 BRCA2
5
Show member pathways
11.98 SLX4 RAD51C PALB2 BRIP1 BRCA2
6 11.88 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
7
Show member pathways
11.78 FANCL FANCG FANCF FANCE FANCD2 FANCC
8 11.16 FANCL FANCG FANCF FANCE FANCD2 FANCC

GO Terms for Fanconi Anemia, Complementation Group N

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 neuronal stem cell population maintenance GO:0097150 9.58 FANCD2 FANCC
9 brain morphogenesis GO:0048854 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 inner cell mass cell proliferation GO:0001833 9.54 PALB2 BRCA2
15 gamete generation GO:0007276 9.54 FANCL FANCD2 FANCC
16 positive regulation of double-strand break repair via homologous recombination GO:1905168 9.52 FANCB ERCC6
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 10.11 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
2 chromatin binding GO:0003682 9.65 UBE2T FANCM FAAP24 ERCC6 BRIP1
3 DNA polymerase binding GO:0070182 9.37 FANCI FANCD2
4 four-way junction DNA binding GO:0000400 9.32 RAD51C FANCM
5 DNA binding GO:0003677 9.32 RAD51C PALB2 H2AC18 FANCM FANCI FAAP24
6 crossover junction endodeoxyribonuclease activity GO:0008821 8.96 SLX4 RAD51C

Sources for Fanconi Anemia, Complementation Group N

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
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35 IUPHAR
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50 NDF-RT
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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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