FANCP
MCID: FNC046
MIFTS: 47

Fanconi Anemia, Complementation Group P (FANCP)

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 P

MalaCards integrated aliases for Fanconi Anemia, Complementation Group P:

Name: Fanconi Anemia, Complementation Group P 56 29 13 6 39 71
Fanconi Anemia Complementation Group P 12 73 15
Fancp 56 12 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity
six patients have been reported (last curated may 2011)


HPO:

31
fanconi anemia, complementation group p:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Fanconi Anemia, Complementation Group P

UniProtKB/Swiss-Prot : 73 Fanconi anemia complementation group P: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some individuals affected by Fanconi anemia of complementation group P have skeletal anomalies.

MalaCards based summary : Fanconi Anemia, Complementation Group P, also known as fanconi anemia complementation group p, is related to deficiency anemia and xeroderma pigmentosum, variant type. An important gene associated with Fanconi Anemia, Complementation Group P is SLX4 (SLX4 Structure-Specific Endonuclease Subunit), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. Affiliated tissues include bone, bone marrow and kidney, and related phenotypes are hearing impairment and cryptorchidism

Disease Ontology : 12 A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has material basis in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3.

OMIM : 56 Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011). For a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see 227650. (613951)

Related Diseases for Fanconi Anemia, Complementation Group P

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 deficiency anemia 27.3 H2AC18 FANCG FANCF FANCE FANCD2 FANCC
2 xeroderma pigmentosum, variant type 26.8 SLX4 SLX1B SLX1A H2AC18 FANCM FANCI
3 fanconi anemia, complementation group q 25.2 SLX4 RAD51C PALB2 FANCM FANCL FANCI
4 fanconi anemia, complementation group a 23.9 SLX4 SLX1B SLX1A RAD51C PALB2 H2AC18
5 maternal uniparental disomy 10.3 SLX4 FANCA
6 maternal uniparental disomy of chromosome 16 10.3 SLX4 FANCA
7 thrombophlebitis migrans 10.2 SLX4 FANCI FANCA
8 hutchinson-gilford progeria syndrome 10.2
9 cockayne syndrome 10.2
10 xfe progeroid syndrome 10.1 SLX4 ERCC6
11 fanconi anemia, complementation group l 10.1 FANCL FANCI FANCD2
12 vacterl association 10.0 FANCL FANCI FANCB
13 interstitial nephritis, karyomegalic 9.9 SLX4 SLX1B SLX1A FANCI FANCD2
14 fanconi anemia, complementation group i 9.9 H2AC18 FANCM FANCI FANCD2
15 alpha thalassemia-x-linked intellectual disability syndrome 9.8 H2AC18 ERCC6
16 dyskeratosis congenita 9.7 H2AC18 FANCB FANCA ERCC6
17 esophageal atresia/tracheoesophageal fistula 9.6 FANCC FANCB FANCA
18 li-fraumeni syndrome 9.6 RAD51C PALB2 H2AC18
19 sporadic breast cancer 9.6 RAD51C PALB2 FANCF FANCD2
20 tracheoesophageal fistula with or without esophageal atresia 9.6 PALB2 FANCC
21 lynch syndrome 9.5 RAD51C PALB2 H2AC18 ERCC6
22 fanconi anemia, complementation group d2 9.4 H2AC18 FANCI FANCG FANCD2 FANCA
23 xeroderma pigmentosum, complementation group f 9.4 SLX4 SLX1B SLX1A FANCM FANCD2 FAAP24
24 seckel syndrome 9.0 H2AC18 FANCM FANCI FANCE FANCD2 FANCA
25 fanconi anemia, complementation group c 9.0 FANCL FANCI FANCF FANCD2 FANCC FANCA
26 hereditary breast ovarian cancer syndrome 8.9 RAD51C PALB2 FANCG FANCC
27 fanconi anemia, complementation group e 8.7 FANCG FANCF FANCE FANCD2 FANCC FANCA
28 fanconi anemia, complementation group u 8.7 SLX4 RAD51C FANCM FANCL FANCI FANCF
29 esophageal atresia 8.6 SLX4 FANCM FANCL FANCI FANCE FANCD2
30 fanconi anemia, complementation group f 8.5 H2AC18 FANCG FANCF FANCE FANCD2 FANCC
31 fanconi anemia, complementation group v 8.5 SLX4 FANCM FANCL FANCI FANCE FANCD2
32 aplastic anemia 8.4 H2AC18 FANCM FANCI FANCG FANCD2 FANCC
33 fanconi anemia, complementation group b 8.3 FANCL FANCG FANCF FANCE FANCD2 FANCC
34 squamous cell carcinoma, head and neck 8.0 H2AC18 FANCL FANCG FANCF FANCE FANCD2
35 fanconi anemia, complementation group r 7.8 SLX4 RAD51C PALB2 FANCM FANCL FANCI
36 fanconi anemia, complementation group t 7.4 SLX4 H2AC18 FANCM FANCL FANCI FANCG
37 fanconi anemia, complementation group o 6.2 SLX4 RAD51C PALB2 FANCM FANCL FANCI
38 fanconi anemia, complementation group n 6.1 SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
39 fanconi anemia, complementation group j 6.0 SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
40 fanconi anemia, complementation group d1 6.0 SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
41 congenital hypoplastic anemia 5.6 SLX4 SLX1B SLX1A RAD51C PALB2 H2AC18

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



Diseases related to Fanconi Anemia, Complementation Group P

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group P

Human phenotypes related to Fanconi Anemia, Complementation Group P:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 occasional (7.5%) HP:0000365
2 cryptorchidism 31 occasional (7.5%) HP:0000028
3 horseshoe kidney 31 occasional (7.5%) HP:0000085
4 micrognathia 31 occasional (7.5%) HP:0000347
5 microcephaly 31 occasional (7.5%) HP:0000252
6 vitiligo 31 occasional (7.5%) HP:0001045
7 bulbous nose 31 occasional (7.5%) HP:0000414
8 pelvic kidney 31 occasional (7.5%) HP:0000125
9 blepharophimosis 31 occasional (7.5%) HP:0000581
10 short thumb 31 occasional (7.5%) HP:0009778
11 hypoplasia of the radius 31 occasional (7.5%) HP:0002984
12 squamous cell carcinoma 31 occasional (7.5%) HP:0002860
13 short palpebral fissure 31 occasional (7.5%) HP:0012745
14 absent thumb 31 occasional (7.5%) HP:0009777
15 short stature 31 HP:0004322
16 cafe-au-lait spot 31 HP:0000957
17 anemia 31 HP:0001903
18 pancytopenia 31 HP:0001876

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Growth Other:
growth retardation

Head And Neck Head:
microcephaly (1 patient)

Head And Neck Nose:
bulbous nasal tip (1 patient)

Head And Neck Face:
micrognathia (1 patient)

Genitourinary Kidneys:
pelvic kidney (1 patient)
horseshoe kidney (1 patient)

Skeletal Hands:
hypoplastic thumbs (1 patient)
absent thumbs (1 patient)

Hematology:
anemia
pancytopenia (4 patients)
thrombocytopenia, isolated (1 patient)

Skin Nails Hair Skin:
cafe-au-lait spots
hypopigmentation spots
vitiligo (1 patient)

Genitourinary Internal Genitalia Male:
cryptorchidism (1 patient)

Head And Neck Ears:
hearing loss (1 patient)
hypoplastic malleus (1 patient)
narrow external ear canals (1 patient)
malformed auricle (1 patient)

Head And Neck Eyes:
almond-shaped eyes (1 patient)
short palpebral fissures (1 patient)

Skeletal Limbs:
radial hypoplasia (1 patient)

Neoplasia:
squamous cell carcinoma (1 patient)

Clinical features from OMIM:

613951

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group P 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 9.47 ERCC6 FAAP100 FAAP24 FANCA FANCC FANCD2

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.07 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 9.4 FANCA FANCB FANCC FANCD2 FANCE FANCF

Drugs & Therapeutics for Fanconi Anemia, Complementation Group P

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

Genetic Tests for Fanconi Anemia, Complementation Group P

Genetic tests related to Fanconi Anemia, Complementation Group P:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group P 29 SLX4

Anatomical Context for Fanconi Anemia, Complementation Group P

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

40
Bone, Bone Marrow, Kidney, Breast, Eye, Skin

Publications for Fanconi Anemia, Complementation Group P

Articles related to Fanconi Anemia, Complementation Group P:

(show all 37)
# Title Authors PMID Year
1
Mutations of the SLX4 gene in Fanconi anemia. 61 56 6
21240275 2011
2
SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. 56 6
21240277 2011
3
Disruption of mouse Slx4, a regulator of structure-specific nucleases, phenocopies Fanconi anemia. 56
21240276 2011
4
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 6
19888064 2009
5
Esophageal Atresia/Tracheoesophageal Fistula Overview 6
20301753 2009
6
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
7
Fanconi Anemia 6
20301575 2002
8
SLX4IP acts with SLX4 and XPF-ERCC1 to promote interstrand crosslink repair. 61
31495888 2019
9
The role of SLX4 and its associated nucleases in DNA interstrand crosslink repair. 61
30576517 2019
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
SLX4: multitasking to maintain genome stability. 61
30284473 2018
12
A low-frequency haplotype spanning SLX4/FANCP constitutes a new risk locus for early-onset breast cancer (<60 years) and is associated with reduced DNA repair capacity. 61
29044504 2018
13
Mgm101: A double-duty Rad52-like protein. 61
27636878 2016
14
Elucidation of the Fanconi Anemia Protein Network in Meiosis and Its Function in the Regulation of Histone Modifications. 61
27760317 2016
15
Upregulated LINE-1 Activity in the Fanconi Anemia Cancer Susceptibility Syndrome Leads to Spontaneous Pro-inflammatory Cytokine Production. 61
27428429 2016
16
Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia. 61
26841305 2016
17
Disruption of SLX4-MUS81 Function Increases the Relative Biological Effectiveness of Proton Radiation. 61
27084631 2016
18
Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations. 61
26453996 2015
19
Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemia reveals putative predisposing mutations in Fanconi anemia genes. 61
26201965 2015
20
Alterations of DNA repair genes in the NCI-60 cell lines and their predictive value for anticancer drug activity. 61
25758781 2015
21
Nuclease delivery: versatile functions of SLX4/FANCP in genome maintenance. 61
24938228 2014
22
XPF-ERCC1 acts in Unhooking DNA interstrand crosslinks in cooperation with FANCD2 and FANCP/SLX4. 61
24726325 2014
23
Resolving branched DNA intermediates with structure-specific nucleases during replication in eukaryotes. 61
24008669 2013
24
Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families. 61
23211700 2013
25
Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4. 61
23093618 2013
26
Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP. 61
23033263 2013
27
Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases. 61
22911665 2013
28
Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data. 61
24349080 2013
29
A protein prioritization approach tailored for the FA/BRCA pathway. 61
23620800 2013
30
The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4. 61
22907656 2012
31
A prototypical Fanconi anemia pathway in lower eukaryotes? 61
22895051 2012
32
Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families. 61
22401137 2012
33
Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases. 61
22383991 2012
34
Components of a Fanconi-like pathway control Pso2-independent DNA interstrand crosslink repair in yeast. 61
22912599 2012
35
Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer. 61
21805310 2011
36
Cancel all Hollidays for SLX4 mutations: identification of a new Fanconi anemia subtype, FANCP. 61
21476996 2011
37
FANCP/SLX4: a Swiss army knife of DNA interstrand crosslink repair. 61
21527828 2011

Variations for Fanconi Anemia, Complementation Group P

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

6 (show all 33) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLX4 NM_032444.4(SLX4):c.286del (p.Thr96fs)deletion Pathogenic 31021 16:3658680-3658680 16:3608679-3608679
2 SLX4 NM_032444.4(SLX4):c.1093del (p.Gln365fs)deletion Pathogenic 31022 16:3651050-3651050 16:3601049-3601049
3 SLX4 SLX4, IVS5DS, 1-BP DUP, T, +3duplication Pathogenic 31023
4 SLX4 NM_032444.4(SLX4):c.1163+2T>ASNV Pathogenic 31024 rs773642409 16:3650978-3650978 16:3600977-3600977
5 SLX4 NM_032444.4(SLX4):c.514del (p.Leu172fs)deletion Pathogenic 31025 rs1567178071 16:3658452-3658452 16:3608451-3608451
6 SLX4 SLX4, 4,890-BP DEL/2-BP INSindel Pathogenic 31026
7 SLX4 NM_032444.4(SLX4):c.425del (p.Gly142fs)deletion Likely pathogenic 623231 rs757662453 16:3658541-3658541 16:3608540-3608540
8 SLX4 NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu)SNV Conflicting interpretations of pathogenicity 319162 rs139287784 16:3640664-3640664 16:3590663-3590663
9 SLX4 NM_032444.4(SLX4):c.2609C>T (p.Ala870Val)SNV Conflicting interpretations of pathogenicity 241672 rs149584080 16:3641030-3641030 16:3591029-3591029
10 SLX4 NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu)SNV Conflicting interpretations of pathogenicity 407935 rs149126845 16:3647691-3647691 16:3597690-3597690
11 SLX4 NM_032444.4(SLX4):c.1271C>T (p.Ala424Val)SNV Uncertain significance 407905 rs551823420 16:3647893-3647893 16:3597892-3597892
12 SLX4 NM_032444.4(SLX4):c.4333C>T (p.Arg1445Trp)SNV Uncertain significance 407904 rs777967898 16:3639306-3639306 16:3589305-3589305
13 SLX4 NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser)SNV Uncertain significance 436778 rs138484365 16:3639255-3639255 16:3589254-3589254
14 SLX4 NM_032444.4(SLX4):c.3095C>T (p.Pro1032Leu)SNV Uncertain significance 456305 rs200924744 16:3640544-3640544 16:3590543-3590543
15 SLX4 NM_032444.4(SLX4):c.4765C>T (p.Arg1589Cys)SNV Uncertain significance 456329 rs181782315 16:3633486-3633486 16:3583485-3583485
16 SLX4 NM_032444.4(SLX4):c.4267A>G (p.Ile1423Val)SNV Uncertain significance 456321 rs953994627 16:3639372-3639372 16:3589371-3589371
17 SLX4 NM_032444.4(SLX4):c.485C>T (p.Thr162Met)SNV Uncertain significance 456330 rs140876043 16:3658481-3658481 16:3608480-3608480
18 SLX4 NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys)SNV Uncertain significance 561112 rs140529288 16:3640503-3640503 16:3590502-3590502
19 SLX4 NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)SNV Uncertain significance 241689 rs137976282 16:3658545-3658545 16:3608544-3608544
20 SLX4 NM_032444.4(SLX4):c.1415T>C (p.Leu472Ser)SNV Uncertain significance 319177 rs776189589 16:3647648-3647648 16:3597647-3597647
21 SLX4 NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys)SNV Uncertain significance 319154 rs142040192 16:3639699-3639699 16:3589698-3589698
22 SLX4 NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln)SNV Uncertain significance 319165 rs143558209 16:3641054-3641054 16:3591053-3591053
23 SLX4 NM_032444.4(SLX4):c.4046G>C (p.Gly1349Ala)SNV Uncertain significance 235267 rs151144102 16:3639593-3639593 16:3589592-3589592
24 SLX4 NM_032444.4(SLX4):c.2449G>C (p.Glu817Gln)SNV Uncertain significance 407927 rs143730668 16:3641190-3641190 16:3591189-3591189
25 SLX4 NM_032444.4(SLX4):c.1394C>T (p.Pro465Leu)SNV Uncertain significance 407909 rs372128800 16:3647669-3647669 16:3597668-3597668
26 SLX4 NM_032444.4(SLX4):c.802G>A (p.Val268Met)SNV Uncertain significance 407937 rs1060501798 16:3652267-3652267 16:3602266-3602266
27 SLX4 NM_032444.4(SLX4):c.3101G>A (p.Arg1034His)SNV Uncertain significance 407910 rs150453226 16:3640538-3640538 16:3590537-3590537
28 SLX4 NM_032444.4(SLX4):c.3948_3962del (p.Pro1317_Pro1321del)deletion Uncertain significance 626021 rs1302525912 16:3639677-3639691 16:3589676-3589690
29 SLX4 NM_032444.4(SLX4):c.3419A>C (p.Lys1140Thr)SNV Uncertain significance 626022 rs1374316194 16:3640220-3640220 16:3590219-3590219
30 SLX4 NM_032444.4(SLX4):c.4996C>T (p.Arg1666Ter)SNV Uncertain significance 632251 rs1291935778 16:3633255-3633255 16:3583254-3583254
31 SLX4 NM_032444.4(SLX4):c.2584C>T (p.Arg862Ter)SNV Uncertain significance 632059 rs200715208 16:3641055-3641055 16:3591054-3591054
32 SLX4 NM_032444.4(SLX4):c.1799C>T (p.Pro600Leu)SNV Uncertain significance 694611 16:3646279-3646279 16:3596278-3596278
33 SLX4 NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu)SNV Benign 262047 rs714181 16:3640274-3640274 16:3590273-3590273

Expression for Fanconi Anemia, Complementation Group P

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

Pathways for Fanconi Anemia, Complementation Group P

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.58 SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
2
Show member pathways
12.47 FANCG FANCF FANCE FANCD2 FANCC FANCA
3
Show member pathways
12.1 SLX4 SLX1B SLX1A RAD51C PALB2
4
Show member pathways
11.94 SLX4 SLX1B SLX1A RAD51C PALB2
5 11.85 SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
6
Show member pathways
11.72 FANCL FANCG FANCF FANCE FANCD2 FANCC
7 11.16 FANCL FANCG FANCF FANCE FANCD2 FANCC

GO Terms for Fanconi Anemia, Complementation Group P

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.13 SLX4 SLX1B SLX1A RAD51C PALB2 H2AC18
2 nucleoplasm GO:0005654 9.91 SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
3 Slx1-Slx4 complex GO:0033557 9.43 SLX4 SLX1B SLX1A
4 Holliday junction resolvase complex GO:0048476 9.32 SLX4 RAD51C
5 Fanconi anaemia nuclear complex GO:0043240 9.32 FANCM FANCL FANCG FANCF FANCE FANCC

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 interstrand cross-link repair GO:0036297 10.03 SLX4 SLX1B SLX1A FANCM FANCL FANCI
2 cellular response to DNA damage stimulus GO:0006974 9.91 SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
3 DNA recombination GO:0006310 9.8 SLX4 SLX1B SLX1A RAD51C PALB2
4 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.75 SLX1B SLX1A FANCM
5 double-strand break repair via homologous recombination GO:0000724 9.72 SLX4 SLX1B SLX1A RAD51C PALB2
6 gamete generation GO:0007276 9.67 FANCL FANCD2 FANCC
7 t-circle formation GO:0090656 9.65 SLX4 SLX1B SLX1A
8 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.63 SLX4 SLX1B SLX1A
9 telomeric D-loop disassembly GO:0061820 9.61 SLX4 SLX1B SLX1A
10 neuronal stem cell population maintenance GO:0097150 9.58 FANCD2 FANCC
11 DNA repair GO:0006281 9.58 SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
12 brain morphogenesis GO:0048854 9.57 FANCD2 FANCC
13 resolution of meiotic recombination intermediates GO:0000712 9.56 SLX4 FANCM
14 regulation of regulatory T cell differentiation GO:0045589 9.55 FANCD2 FANCA
15 positive regulation of double-strand break repair via homologous recombination GO:1905168 9.54 FANCB ERCC6
16 DNA double-strand break processing involved in repair via single-strand annealing GO:0010792 9.54 SLX4 SLX1B SLX1A
17 telomere maintenance via telomere lengthening GO:0010833 9.52 SLX1B SLX1A
18 regulation of CD40 signaling pathway GO:2000348 9.51 FANCD2 FANCA
19 positive regulation of t-circle formation GO:1904431 9.43 SLX4 SLX1B SLX1A

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.09 SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
2 DNA binding GO:0003677 9.97 RAD51C PALB2 H2AC18 FANCM FANCI FAAP24
3 nuclease activity GO:0004518 9.5 SLX1B SLX1A FANCM
4 DNA polymerase binding GO:0070182 9.26 FANCI FANCD2
5 5'-flap endonuclease activity GO:0017108 9.13 SLX4 SLX1B SLX1A
6 crossover junction endodeoxyribonuclease activity GO:0008821 8.92 SLX4 SLX1B SLX1A RAD51C

Sources for Fanconi Anemia, Complementation Group P

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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