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

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, 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.

Wikipedia : 74 Partner and localizer of BRCA2, also known as PALB2 or FANCN, is a protein which in humans is encoded by... more...

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 all 46)
# 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 thrombophlebitis migrans 10.2 SLX4 FANCI FANCA
4 interstitial nephritis, karyomegalic 10.2 SLX4 FANCI FANCD2
5 fanconi anemia, complementation group i 10.1 H2AC18 FANCM FANCI FANCD2
6 vacterl association 10.1 FANCL FANCI FANCB
7 tumor predisposition syndrome 10.0 PALB2 BRCA2
8 xeroderma pigmentosum, complementation group f 10.0 SLX4 FANCM FANCD2 FAAP24
9 dysplastic nevus syndrome 10.0 PALB2 BRCA2
10 fallopian tube carcinoma 9.9 RAD51C PALB2 BRCA2
11 tracheoesophageal fistula with or without esophageal atresia 9.9 PALB2 FANCC BRCA2
12 bloom syndrome 9.9 FANCM FANCA BRCA2
13 cowden syndrome 9.9 RAD51C PALB2 BRCA2
14 peritoneum cancer 9.8 RAD51C BRCA2
15 familial ovarian cancer 9.8 BRIP1 BRCA2
16 li-fraumeni syndrome 9.8 RAD51C PALB2 H2AC18 BRCA2
17 ovarian disease 9.8 RAD51C PALB2 H2AC18 BRCA2
18 lynch syndrome 9.7 RAD51C PALB2 H2AC18 BRCA2
19 fanconi anemia, complementation group l 9.6 UBE2T FANCL FANCI FANCD2
20 sporadic breast cancer 9.5 RAD51C PALB2 FANCF FANCD2 BRCA2
21 fanconi anemia, complementation group c 9.5 FANCL FANCI FANCF FANCD2 FANCC FANCA
22 fanconi anemia, complementation group d2 9.4 H2AC18 FANCI FANCG FANCD2 FANCA BRCA2
23 fanconi anemia, complementation group e 9.3 FANCG FANCF FANCE FANCD2 FANCC FANCA
24 autosomal genetic disease 9.3 H2AC18 BRCA2 BHLHE40
25 esophageal atresia/tracheoesophageal fistula 9.3 FANCC FANCB FANCA BRIP1 BRCA2
26 seckel syndrome 9.2 H2AC18 FANCM FANCI FANCE FANCD2 FANCA
27 leukemia, acute myeloid 9.1 H2AC18 FANCC FANCA BRCA2 BHLHE40
28 esophageal atresia 9.1 SLX4 FANCM FANCL FANCI FANCE FANCD2
29 aplastic anemia 8.9 H2AC18 FANCM FANCI FANCG FANCD2 FANCC
30 fanconi anemia, complementation group b 8.9 FANCL FANCG FANCF FANCE FANCD2 FANCC
31 hereditary breast ovarian cancer syndrome 8.9 RAD51C PALB2 FANCG FANCC BRIP1 BRCA2
32 squamous cell carcinoma, head and neck 8.9 H2AC18 FANCL FANCG FANCF FANCE FANCD2
33 fanconi anemia, complementation group f 8.8 H2AC18 FANCG FANCF FANCE FANCD2 FANCC
34 xeroderma pigmentosum, variant type 8.5 SLX4 H2AC18 FANCM FANCI FANCG FANCD2
35 fanconi anemia, complementation group u 8.2 UBE2T SLX4 RAD51C FANCM FANCL FANCI
36 deficiency anemia 8.1 H2AC18 FANCG FANCF FANCE FANCD2 FANCC
37 fanconi anemia, complementation group v 7.8 UBE2T SLX4 FANCM FANCL FANCI FANCE
38 fanconi anemia, complementation group r 7.7 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
39 fanconi anemia, complementation group t 7.4 UBE2T SLX4 H2AC18 FANCM FANCL FANCI
40 fanconi anemia, complementation group p 7.4 SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
41 fanconi anemia, complementation group q 7.2 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
42 fanconi anemia, complementation group o 7.1 SLX4 RAD51C PALB2 FANCM FANCL FANCI
43 fanconi anemia, complementation group j 6.5 SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
44 congenital hypoplastic anemia 5.5 UBE2T SLX4 RAD51C PALB2 H2AC18 FANCM
45 fanconi anemia, complementation group d1 5.5 UBE2T SLX4 RAD51C PALB2 H2AC18 FANCM
46 fanconi anemia, complementation group a 5.5 UBE2T SLX4 RAD51C PALB2 H2AC18 FANCM

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 cafe-au-lait spot 31 HP:0000957
6 ventricular septal defect 31 HP:0001629
7 microcephaly 31 HP:0000252
8 aplastic anemia 31 HP:0001915
9 epicanthus 31 HP:0000286
10 postnatal growth retardation 31 HP:0008897
11 short thumb 31 HP:0009778
12 medulloblastoma 31 HP:0002885
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 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.86 BRCA2 BRIP1 FAAP100 FAAP24 FANCA FANCC
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.72 BRCA2 FANCA FANCD2 FANCM PALB2 UBE2T
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.72 BRCA2 FANCA FANCD2 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 10.07 BRCA2 BRIP1 FANCA FANCB FANCC FANCD2
2 endocrine/exocrine gland MP:0005379 10 BHLHE40 BRCA2 BRIP1 FANCA FANCB FANCC
3 neoplasm MP:0002006 9.5 BRCA2 BRIP1 FANCA FANCD2 FANCF FANCM
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, Bone Marrow, Breast, Testes, T Cells, Skin, Myeloid

Publications for Fanconi Anemia, Complementation Group N

Articles related to Fanconi Anemia, Complementation Group N:

(show all 50)
# 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
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
10
PALB2 (partner and localizer of BRCA2). 61
31413733 2018
11
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
12
[PALB2 as Another Candidate Gene for Genetic Testing in Patients with Hereditary Breast Cancer in Czech Republic]. 61
26691940 2016
13
ATM-dependent Phosphorylation of the Fanconi Anemia Protein PALB2 Promotes the DNA Damage Response. 61
26420486 2015
14
Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics. 61
26254775 2015
15
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. 61
25472942 2015
16
Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup. 61
26064523 2015
17
Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. 61
24141787 2014
18
Hypersensitivities for acetaldehyde and other agents among cancer cells null for clinically relevant Fanconi anemia genes. 61
24200853 2014
19
Breast cancer genes: beyond BRCA1 and BRCA2. 61
23747889 2013
20
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
21
No evidence for PALB2 methylation in high-grade serous ovarian cancer. 61
23587053 2013
22
Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population. 61
23021409 2013
23
Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. 61
23935836 2013
24
Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma. 61
22829014 2012
25
PALB2 interacts with KEAP1 to promote NRF2 nuclear accumulation and function. 61
22331464 2012
26
Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes. 61
21799032 2011
27
Pyrosequencing-based DNA methylation profiling of Fanconi anemia/BRCA pathway genes in laryngeal squamous cell carcinoma. 61
21567085 2011
28
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
29
PALB2/FANCN: recombining cancer and Fanconi anemia. 61
20858716 2010
30
Fanconi anemia gene mutations are not involved in sporadic Wilms tumor. 61
20589654 2010
31
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
32
The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features. 61
19536649 2009
33
Fanconi anemia complementation group FANCD2 protein serine 331 phosphorylation is important for fanconi anemia pathway function and BRCA2 interaction. 61
19861535 2009
34
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
35
Recruitment of fanconi anemia and breast cancer proteins to DNA damage sites is differentially governed by replication. 61
19748364 2009
36
The Fanconi anemia/BRCA gene network in zebrafish: embryonic expression and comparative genomics. 61
19101574 2009
37
FANCM-FAAP24 and FANCJ: FA proteins that metabolize DNA. 61
19379763 2009
38
Cellular and molecular consequences of defective Fanconi anemia proteins in replication-coupled DNA repair: mechanistic insights. 61
19622404 2009
39
PALB2 links BRCA1 and BRCA2 in the DNA-damage response. 61
19268590 2009
40
A possible approach for stem cell gene therapy of Fanconi anemia. 61
19275569 2009
41
Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. 61
18302019 2009
42
Defects of FA/BRCA pathway in lymphoma cell lines. 61
19011769 2008
43
[Search for Fanconi anemia/BRCA pathway defects in lymphoma cell lines]. 61
18841560 2008
44
[A role for PALB2/FANCN in breast cancer predisposition?]. 61
18272064 2008
45
Promoter hypermethylation of the PALB2 susceptibility gene in inherited and sporadic breast and ovarian cancer. 61
18281473 2008
46
The Fanconi anaemia/BRCA pathway and cancer susceptibility. Searching for new therapeutic targets. 61
18258506 2008
47
Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families. 61
18414782 2008
48
The Fanconi anemia pathway and ubiquitin. 61
18047734 2007
49
Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. 61
17768402 2007
50
Analysis of PALB2/FANCN-associated breast cancer families. 61
17420451 2007

Variations for Fanconi Anemia, Complementation Group N

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

6 (show all 37) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PALB2 PALB2:c.49-?_2586+?deldeletion Pathogenic 1244
2 PALB2 NM_024675.3(PALB2):c.2962C>T (p.Gln988Ter)SNV Pathogenic 1246 rs118203999 16:23634324-23634324 16:23623003-23623003
3 PALB2 NM_024675.3(PALB2):c.1676_1677delinsG (p.Gln559fs)indel Pathogenic 126614 rs515726073 16:23646190-23646191 16:23634869-23634870
4 PALB2 NM_024675.3(PALB2):c.2393_2394insCT (p.Thr799fs)insertion Pathogenic 126651 rs180177113 16:23641081-23641082 16:23629760-23629761
5 PALB2 NM_024675.3(PALB2):c.2521del (p.Thr841fs)deletion Pathogenic 126659 rs180177116 16:23640590-23640590 16:23629269-23629269
6 PALB2 NM_024675.3(PALB2):c.3323del (p.Tyr1108fs)deletion Pathogenic 126734 rs180177135 16:23619212-23619212 16:23607891-23607891
7 PALB2 NM_024675.3(PALB2):c.395del (p.Val132fs)deletion Pathogenic 126748 rs180177085 16:23647472-23647472 16:23636151-23636151
8 PALB2 NM_024675.3(PALB2):c.757_758delCTshort repeat Pathogenic 126768 rs180177092 16:23647109-23647110 16:23635788-23635789
9 PALB2 NM_024675.3(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.106C>T (p.Gln36Ter)SNV Pathogenic 402288 rs757369748 16:23649393-23649393 16:23638072-23638072
12 PALB2 NM_024675.3(PALB2):c.2834+1G>TSNV Pathogenic/Likely pathogenic 143968 rs587776419 16:23635329-23635329 16:23624008-23624008
13 PALB2 NM_024675.3(PALB2):c.3350+4A>GSNV Pathogenic/Likely pathogenic 126737 rs180177136 16:23619181-23619181 16:23607860-23607860
14 PALB2 NM_024675.3(PALB2):c.1653T>A (p.Tyr551Ter)SNV Pathogenic/Likely pathogenic 1243 rs118203997 16:23646214-23646214 16:23634893-23634893
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.3251C>T (p.Ser1084Leu)SNV Conflicting interpretations of pathogenicity 126727 rs62625271 16:23619284-23619284 16:23607963-23607963
18 PALB2 NM_024675.3(PALB2):c.11C>T (p.Pro4Leu)SNV Conflicting interpretations of pathogenicity 126593 rs45619737 16:23652468-23652468 16:23641147-23641147
19 PALB2 NM_024675.3(PALB2):c.2773G>C (p.Val925Leu)SNV Conflicting interpretations of pathogenicity 126681 rs180177125 16:23635391-23635391 16:23624070-23624070
20 PALB2 NM_024675.3(PALB2):c.3428T>A (p.Leu1143His)SNV Conflicting interpretations of pathogenicity 126740 rs62625284 16:23614913-23614913 16:23603592-23603592
21 PALB2 NM_024675.3(PALB2):c.1756G>A (p.Asp586Asn)SNV Conflicting interpretations of pathogenicity 141709 rs587781954 16:23641719-23641719 16:23630398-23630398
22 PALB2 NM_024675.3(PALB2):c.3307G>C (p.Val1103Leu)SNV Uncertain significance 141974 rs201657283 16:23619228-23619228 16:23607907-23607907
23 PALB2 NM_024675.3(PALB2):c.2473A>G (p.Arg825Gly)SNV Uncertain significance 402299 rs745747228 16:23641002-23641002 16:23629681-23629681
24 PALB2 NM_024675.3(PALB2):c.1759G>A (p.Ala587Thr)SNV Uncertain significance 410106 rs1060502733 16:23641716-23641716 16:23630395-23630395
25 PALB2 NM_024675.3(PALB2):c.2026A>C (p.Ile676Leu)SNV Uncertain significance 484244 rs761478794 16:23641449-23641449 16:23630128-23630128
26 PALB2 NM_024675.3(PALB2):c.1340C>A (p.Ala447Glu)SNV Uncertain significance 480285 rs1555461334 16:23646527-23646527 16:23635206-23635206
27 PALB2 NM_024675.3(PALB2):c.3428T>C (p.Leu1143Pro)SNV Uncertain significance 126741 rs62625284 16:23614913-23614913 16:23603592-23603592
28 PALB2 NM_024675.3(PALB2):c.1348A>C (p.Asn450His)SNV Uncertain significance 128119 rs62625274 16:23646519-23646519 16:23635198-23635198
29 PALB2 NM_024675.3(PALB2):c.2897T>C (p.Ile966Thr)SNV Uncertain significance 128136 rs587780214 16:23634389-23634389 16:23623068-23623068
30 PALB2 NM_024675.3(PALB2):c.2869A>C (p.Lys957Gln)SNV Uncertain significance 126694 rs515726103 16:23634417-23634417 16:23623096-23623096
31 PALB2 NM_024675.3(PALB2):c.-200-?_3113+?deldeletion Uncertain significance 126574
32 PALB2 NM_024675.3(PALB2):c.968C>A (p.Ala323Glu)SNV Uncertain significance 182760 rs730881882 16:23646899-23646899 16:23635578-23635578
33 PALB2 NM_024675.3(PALB2):c.187C>T (p.Leu63Phe)SNV Uncertain significance 182780 rs730881899 16:23649195-23649195 16:23637874-23637874
34 PALB2 NM_024675.3(PALB2):c.1526G>A (p.Gly509Asp)SNV Uncertain significance 186732 rs786203176 16:23646341-23646341 16:23635020-23635020
35 PALB2 NM_024675.3(PALB2):c.1316G>T (p.Gly439Val)SNV Uncertain significance 188096 rs537258442 16:23646551-23646551 16:23635230-23635230
36 PALB2 NM_024675.3(PALB2):c.1115G>C (p.Ser372Thr)SNV Uncertain significance 188377 rs786204243 16:23646752-23646752 16:23635431-23635431
37 PALB2 NM_024675.3(PALB2):c.3247G>A (p.Glu1083Lys)SNV Uncertain significance 216753 rs747785029 16:23619288-23619288 16:23607967-23607967

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
12.58 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
2
Show member pathways
12.47 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 9.91 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 16)
# 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 9.91 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
3 DNA recombination GO:0006310 9.71 SLX4 RAD51C PALB2 BRCA2
4 double-strand break repair via homologous recombination GO:0000724 9.62 SLX4 RAD51C PALB2 BRCA2
5 DNA repair GO:0006281 9.58 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
6 female gonad development GO:0008585 9.56 FANCA BRCA2
7 nucleotide-excision repair GO:0006289 9.56 SLX4 FANCC BRIP1 BRCA2
8 male meiosis I GO:0007141 9.55 RAD51C BRCA2
9 neuronal stem cell population maintenance GO:0097150 9.54 FANCD2 FANCC
10 gamete generation GO:0007276 9.54 FANCL FANCD2 FANCC
11 brain morphogenesis GO:0048854 9.52 FANCD2 FANCC
12 resolution of meiotic recombination intermediates GO:0000712 9.51 SLX4 FANCM
13 regulation of regulatory T cell differentiation GO:0045589 9.49 FANCD2 FANCA
14 inner cell mass cell proliferation GO:0001833 9.48 PALB2 BRCA2
15 telomere maintenance via recombination GO:0000722 9.46 RAD51C BRCA2
16 regulation of CD40 signaling pathway GO:2000348 9.43 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 9.91 UBE2T SLX4 RAD51C PALB2 FANCM FANCL
2 DNA binding GO:0003677 9.32 RAD51C PALB2 H2AC18 FANCM FANCI FAAP24
3 DNA polymerase binding GO:0070182 9.26 FANCI FANCD2
4 crossover junction endodeoxyribonuclease activity GO:0008821 9.16 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
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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