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FANCP
MCID: FNC046
MIFTS: 49

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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Fanconi Anemia, Complementation Group P

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MalaCards integrated aliases for Fanconi Anemia, Complementation Group P:

Name: Fanconi Anemia, Complementation Group P 57 29 13 6 39 71
Fanconi Anemia Complementation Group P 12 73 15
Fancp 57 12 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

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 P

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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 fanconi anemia, complementation group d2. 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 marrow, kidney and breast, and related phenotypes are hearing impairment and microcephaly

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® : 57 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) (Updated 05-Mar-2021)

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Related Diseases for Fanconi Anemia, Complementation Group P

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 deficiency anemia 28.6 H2AC18 FANCG FANCF FANCE FANCD2 FANCC
2 fanconi anemia, complementation group d2 28.1 H2AC18 FANCM FANCL FANCI FANCG FANCE
3 xeroderma pigmentosum, variant type 27.5 SLX4 SLX1B SLX1A H2AC18 FANCM FANCL
4 fanconi anemia, complementation group q 26.6 SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
5 fanconi anemia, complementation group a 25.9 SLX4 SLX1B SLX1A RAD51C PALB2 H2AC18
6 maternal uniparental disomy 10.3 SLX4 FANCA
7 maternal uniparental disomy of chromosome 16 10.3 SLX4 FANCA
8 xfe progeroid syndrome 10.2 SLX4 ERCC6
9 vacterl with hydrocephalus 10.1 FANCL FANCB
10 esophageal atresia/tracheoesophageal fistula 10.1 FANCB FANCA
11 fanconi anemia, complementation group l 10.1 FANCL FANCD2
12 vacterl association, x-linked, with or without hydrocephalus 10.1 FANCL FANCB
13 pituitary stalk interruption syndrome 10.0 FANCG FANCD2 FANCA
14 vacterl association 10.0 FANCL FANCI FANCB
15 severe combined immunodeficiency with sensitivity to ionizing radiation 10.0 H2AC18 ERCC6
16 interstitial nephritis, karyomegalic 10.0 SLX4 SLX1B SLX1A FANCI FANCD2
17 autosomal recessive cerebellar ataxia 9.9 H2AC18 FANCB ERCC6
18 bloom syndrome 9.9 FANCM FANCC FANCA
19 hutchinson-gilford progeria syndrome 9.9
20 cockayne syndrome 9.9
21 peritoneum cancer 9.9 RAD51C PALB2 H2AC18
22 xeroderma pigmentosum, complementation group g 9.9 SLX4 SLX1B SLX1A H2AC18 ERCC6
23 tracheoesophageal fistula with or without esophageal atresia 9.9 PALB2 FANCC
24 cerebellar disease 9.9 H2AC18 FANCB ERCC6
25 peliosis hepatis 9.8 FANCM FANCG FANCC FANCA
26 dyskeratosis congenita 9.8 SLX4 H2AC18 FANCC FANCA
27 hereditary breast ovarian cancer syndrome 9.8 RAD51C PALB2 FANCM FANCG
28 breast-ovarian cancer, familial 1 9.7 RAD51C PALB2
29 sporadic breast cancer 9.7 RAD51C PALB2 FANCF FANCD2
30 lynch syndrome 9.7 RAD51C PALB2 H2AC18 ERCC6
31 pancytopenia 9.7 H2AC18 FANCG FANCC FANCA
32 nijmegen breakage syndrome 9.6 H2AC18 FANCF FANCD2 FANCB ERCC6
33 xeroderma pigmentosum, complementation group f 9.5 SLX4 SLX1B SLX1A FANCM FANCD2 FAAP24
34 fanconi anemia, complementation group e 9.4 FANCG FANCF FANCE FANCD2 FANCC FANCA
35 fanconi anemia, complementation group f 9.4 FANCG FANCF FANCE FANCD2 FANCC FANCA
36 fanconi anemia, complementation group c 9.3 FANCL FANCI FANCF FANCD2 FANCC FANCB
37 fanconi anemia, complementation group u 9.2 SLX4 RAD51C FANCM FANCL FANCI FANCE
38 squamous cell carcinoma, head and neck 9.1 H2AC18 FANCL FANCG FANCF FANCE FANCD2
39 fanconi anemia, complementation group b 9.0 FANCL FANCG FANCF FANCE FANCD2 FANCC
40 esophageal atresia 8.9 FANCM FANCL FANCG FANCF FANCE FANCD2
41 seckel syndrome 8.9 SLX1B SLX1A H2AC18 FANCM FANCL FANCI
42 fanconi anemia, complementation group i 8.6 H2AC18 FANCM FANCL FANCI FANCF FANCD2
43 fanconi anemia, complementation group v 8.4 SLX4 FANCM FANCL FANCI FANCG FANCE
44 aplastic anemia 8.3 SLX4 PALB2 H2AC18 FANCM FANCL FANCI
45 fanconi anemia, complementation group r 8.1 SLX4 RAD51C PALB2 FANCM FANCL FANCI
46 fanconi anemia, complementation group t 7.6 SLX4 H2AC18 FANCM FANCL FANCI FANCG
47 fanconi anemia, complementation group o 7.3 SLX4 RAD51C PALB2 FANCM FANCL FANCI
48 fanconi anemia, complementation group n 7.1 SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
49 fanconi anemia, complementation group d1 7.1 SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
50 fanconi anemia, complementation group j 6.9 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
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Symptoms & Phenotypes for Fanconi Anemia, Complementation Group P

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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 microcephaly 31 occasional (7.5%) HP:0000252
3 cryptorchidism 31 occasional (7.5%) HP:0000028
4 micrognathia 31 occasional (7.5%) HP:0000347
5 horseshoe kidney 31 occasional (7.5%) HP:0000085
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 short palpebral fissure 31 occasional (7.5%) HP:0012745
13 absent thumb 31 occasional (7.5%) HP:0009777
14 squamous cell carcinoma 31 occasional (7.5%) HP:0002860
15 short stature 31 HP:0004322
16 anemia 31 HP:0001903
17 cafe-au-lait spot 31 HP:0000957
18 pancytopenia 31 HP:0001876

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.62 ERCC6 FANCA FANCD2 PALB2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.62 ERCC6 FANCA FANCD2 FANCM PALB2
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.62 ERCC6 FAAP24 FANCA FANCC FANCD2 FANCE

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

46
# 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
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Drugs & Therapeutics for Fanconi Anemia, Complementation Group P

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

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Genetic Tests for Fanconi Anemia, Complementation Group P

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Genetic tests related to Fanconi Anemia, Complementation Group P:

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

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

40
Bone Marrow, Kidney, Breast
Sources

Publications for Fanconi Anemia, Complementation Group P

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Articles related to Fanconi Anemia, Complementation Group P:

(show all 35)
# Title Authors PMID Year
1
Mutations of the SLX4 gene in Fanconi anemia. 57 6 61
21240275 2011
2
SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. 57 6
21240277 2011
3
Disruption of mouse Slx4, a regulator of structure-specific nucleases, phenocopies Fanconi anemia. 57
21240276 2011
4
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
5
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. 61
32235514 2020
6
SLX4IP acts with SLX4 and XPF-ERCC1 to promote interstrand crosslink repair. 61
31495888 2019
7
The role of SLX4 and its associated nucleases in DNA interstrand crosslink repair. 61
30576517 2019
8
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
9
SLX4: multitasking to maintain genome stability. 61
30284473 2018
10
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
11
Mgm101: A double-duty Rad52-like protein. 61
27636878 2016
12
Elucidation of the Fanconi Anemia Protein Network in Meiosis and Its Function in the Regulation of Histone Modifications. 61
27760317 2016
13
Upregulated LINE-1 Activity in the Fanconi Anemia Cancer Susceptibility Syndrome Leads to Spontaneous Pro-inflammatory Cytokine Production. 61
27428429 2016
14
Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia. 61
26841305 2016
15
Disruption of SLX4-MUS81 Function Increases the Relative Biological Effectiveness of Proton Radiation. 61
27084631 2016
16
Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations. 61
26453996 2015
17
Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemia reveals putative predisposing mutations in Fanconi anemia genes. 61
26201965 2015
18
Alterations of DNA repair genes in the NCI-60 cell lines and their predictive value for anticancer drug activity. 61
25758781 2015
19
Nuclease delivery: versatile functions of SLX4/FANCP in genome maintenance. 61
24938228 2014
20
XPF-ERCC1 acts in Unhooking DNA interstrand crosslinks in cooperation with FANCD2 and FANCP/SLX4. 61
24726325 2014
21
Resolving branched DNA intermediates with structure-specific nucleases during replication in eukaryotes. 61
24008669 2013
22
Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families. 61
23211700 2013
23
Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4. 61
23093618 2013
24
Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP. 61
23033263 2013
25
Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data. 61
24349080 2013
26
A protein prioritization approach tailored for the FA/BRCA pathway. 61
23620800 2013
27
Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases. 61
22911665 2013
28
The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4. 61
22907656 2012
29
A prototypical Fanconi anemia pathway in lower eukaryotes? 61
22895051 2012
30
Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families. 61
22401137 2012
31
Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases. 61
22383991 2012
32
Components of a Fanconi-like pathway control Pso2-independent DNA interstrand crosslink repair in yeast. 61
22912599 2012
33
Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer. 61
21805310 2011
34
Cancel all Hollidays for SLX4 mutations: identification of a new Fanconi anemia subtype, FANCP. 61
21476996 2011
35
FANCP/SLX4: a Swiss army knife of DNA interstrand crosslink repair. 61
21527828 2011
Sources

Variations for Fanconi Anemia, Complementation Group P

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

6 (show top 50) (show all 262)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLX4 SLX4, IVS5DS, 1-BP DUP, T, +3 Duplication Pathogenic 31023
2 SLX4 SLX4, 4,890-BP DEL/2-BP INS Indel Pathogenic 31026
3 SLX4 NM_032444.4(SLX4):c.1163+3dup Duplication Pathogenic 929599 16:3650975-3650976 16:3600974-3600975
4 SLX4 NM_032444.4(SLX4):c.1367-2A>G SNV Pathogenic 929603 16:3647698-3647698 16:3597697-3597697
5 SLX4 NM_032444.4(SLX4):c.1538G>A (p.Trp513Ter) SNV Pathogenic 929620 16:3647525-3647525 16:3597524-3597524
6 SLX4 NC_000016.10:g.3590491_3595380delinsGG Indel Pathogenic 933225
7 SLX4 NM_032444.4(SLX4):c.286del (p.Thr96fs) Deletion Pathogenic 31021 rs1596534281 16:3658680-3658680 16:3608679-3608679
8 SLX4 NM_032444.4(SLX4):c.1093del (p.Gln365fs) Deletion Pathogenic 31022 rs1218169126 16:3651050-3651050 16:3601049-3601049
9 SLX4 NM_032444.4(SLX4):c.1163+2T>A SNV Pathogenic 31024 rs773642409 16:3650978-3650978 16:3600977-3600977
10 SLX4 NM_032444.4(SLX4):c.514del (p.Leu172fs) Deletion Pathogenic 31025 rs1567178071 16:3658452-3658452 16:3608451-3608451
11 SLX4 NM_032444.4(SLX4):c.425del (p.Gly142fs) Deletion Likely pathogenic 623231 rs757662453 16:3658541-3658541 16:3608540-3608540
12 SLX4 NM_032444.4(SLX4):c.4580C>T (p.Pro1527Leu) SNV Uncertain significance 436791 rs149362820 16:3639059-3639059 16:3589058-3589058
13 SLX4 NM_032444.4(SLX4):c.3127G>A (p.Gly1043Arg) SNV Uncertain significance 930702 16:3640512-3640512 16:3590511-3590511
14 SLX4 NM_032444.4(SLX4):c.1115G>A (p.Arg372Gln) SNV Uncertain significance 319180 rs372956623 16:3651028-3651028 16:3601027-3601027
15 SLX4 NM_032444.4(SLX4):c.3913G>A (p.Ala1305Thr) SNV Uncertain significance 319155 rs763524714 16:3639726-3639726 16:3589725-3589725
16 SLX4 NM_032444.4(SLX4):c.192A>G (p.Lys64=) SNV Uncertain significance 456292 rs756720856 16:3658774-3658774 16:3608773-3608773
17 SLX4 NM_032444.4(SLX4):c.4830C>T (p.Ser1610=) SNV Uncertain significance 699428 rs370775954 16:3633421-3633421 16:3583420-3583420
18 SLX4 NM_032444.4(SLX4):c.738A>G (p.Gln246=) SNV Uncertain significance 705304 rs905819290 16:3656497-3656497 16:3606496-3606496
19 SLX4 NM_032444.4(SLX4):c.786A>G (p.Pro262=) SNV Uncertain significance 886357 16:3652283-3652283 16:3602282-3602282
20 SLX4 NM_032444.4(SLX4):c.-41A>G SNV Uncertain significance 886415 16:3659006-3659006 16:3609005-3609005
21 SLX4 NM_032444.4(SLX4):c.*493G>T SNV Uncertain significance 887032 16:3631850-3631850 16:3581849-3581849
22 SLX4 NM_032444.4(SLX4):c.4892C>T (p.Ser1631Phe) SNV Uncertain significance 887098 16:3633359-3633359 16:3583358-3583358
23 SLX4 NM_032444.4(SLX4):c.4684C>T (p.Pro1562Ser) SNV Uncertain significance 887100 16:3634825-3634825 16:3584824-3584824
24 SLX4 NM_032444.4(SLX4):c.3872C>T (p.Thr1291Met) SNV Uncertain significance 887173 16:3639767-3639767 16:3589766-3589766
25 SLX4 NM_032444.4(SLX4):c.2688G>A (p.Val896=) SNV Uncertain significance 887239 16:3640951-3640951 16:3590950-3590950
26 SLX4 NM_032444.4(SLX4):c.-205G>A SNV Uncertain significance 887425 16:3659170-3659170 16:3609169-3609169
27 SLX4 NM_032444.4(SLX4):c.-398G>A SNV Uncertain significance 887603 16:3659363-3659363 16:3609362-3609362
28 SLX4 NM_032444.4(SLX4):c.-399C>T SNV Uncertain significance 887604 16:3659364-3659364 16:3609363-3609363
29 SLX4 NM_032444.4(SLX4):c.-614G>C SNV Uncertain significance 887605 16:3661572-3661572 16:3611571-3611571
30 SLX4 NM_032444.4(SLX4):c.*1047G>A SNV Uncertain significance 888238 16:3631296-3631296 16:3581295-3581295
31 SLX4 NM_032444.4(SLX4):c.*102G>A SNV Uncertain significance 888301 16:3632241-3632241 16:3582240-3582240
32 SLX4 NM_032444.4(SLX4):c.*82C>T SNV Uncertain significance 888302 16:3632261-3632261 16:3582260-3582260
33 SLX4 NM_032444.4(SLX4):c.*73G>A SNV Uncertain significance 888303 16:3632270-3632270 16:3582269-3582269
34 SLX4 NM_032444.4(SLX4):c.*54A>C SNV Uncertain significance 888304 16:3632289-3632289 16:3582288-3582288
35 SLX4 NM_032444.4(SLX4):c.4580C>A (p.Pro1527Gln) SNV Uncertain significance 888369 16:3639059-3639059 16:3589058-3589058
36 SLX4 NM_032444.4(SLX4):c.2328-11T>C SNV Uncertain significance 888494 16:3641322-3641322 16:3591321-3591321
37 SLX4 NM_032444.4(SLX4):c.1193G>C (p.Arg398Pro) SNV Uncertain significance 888550 16:3647971-3647971 16:3597970-3597970
38 SLX4 NM_032444.4(SLX4):c.1193G>A (p.Arg398Gln) SNV Uncertain significance 888551 16:3647971-3647971 16:3597970-3597970
39 SLX4 NM_032444.4(SLX4):c.1799C>T (p.Pro600Leu) SNV Uncertain significance 694611 rs749277750 16:3646279-3646279 16:3596278-3596278
40 SLX4 NM_032444.4(SLX4):c.3842G>A (p.Gly1281Glu) SNV Uncertain significance 827989 rs766299864 16:3639797-3639797 16:3589796-3589796
41 SLX4 NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) SNV Uncertain significance 319162 rs139287784 16:3640664-3640664 16:3590663-3590663
42 SLX4 NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys) SNV Uncertain significance 561112 rs140529288 16:3640503-3640503 16:3590502-3590502
43 SLX4 NM_032444.4(SLX4):c.4384G>T (p.Ala1462Ser) SNV Uncertain significance 436778 rs138484365 16:3639255-3639255 16:3589254-3589254
44 SLX4 NM_032444.4(SLX4):c.4333C>T (p.Arg1445Trp) SNV Uncertain significance 407904 rs777967898 16:3639306-3639306 16:3589305-3589305
45 SLX4 NM_032444.4(SLX4):c.4267A>G (p.Ile1423Val) SNV Uncertain significance 456321 rs953994627 16:3639372-3639372 16:3589371-3589371
46 SLX4 NM_032444.4(SLX4):c.4046G>C (p.Gly1349Ala) SNV Uncertain significance 235267 rs151144102 16:3639593-3639593 16:3589592-3589592
47 SLX4 NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys) SNV Uncertain significance 319154 rs142040192 16:3639699-3639699 16:3589698-3589698
48 SLX4 NM_032444.4(SLX4):c.3101G>A (p.Arg1034His) SNV Uncertain significance 407910 rs150453226 16:3640538-3640538 16:3590537-3590537
49 SLX4 NM_032444.4(SLX4):c.3095C>T (p.Pro1032Leu) SNV Uncertain significance 456305 rs200924744 16:3640544-3640544 16:3590543-3590543
50 SLX4 NM_032444.4(SLX4):c.2609C>T (p.Ala870Val) SNV Uncertain significance 241672 rs149584080 16:3641030-3641030 16:3591029-3591029
Sources

Expression for Fanconi Anemia, Complementation Group P

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

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

# Super pathways Score Top Affiliating Genes
1
DNA Double-Strand Break Repair 65
Show member pathways
 12.58 SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
2
Chks in Checkpoint Regulation 63
Show member pathways
 12.47 FANCG FANCF FANCE FANCD2 FANCC FANCA
3
Homologous DNA Pairing and Strand Exchange 65
Show member pathways
 12.1 SLX4 SLX1B SLX1A RAD51C PALB2
4
Resolution of D-loop Structures through Holliday Junction Intermediates 65
Show member pathways
 11.94 SLX4 SLX1B SLX1A RAD51C PALB2
5
Fanconi anemia pathway 36 65
11.85 SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
6
BRCA1 Pathway 63
Show member pathways
 11.72 FANCL FANCG FANCF FANCE FANCD2 FANCC
7
BARD1 signaling events 1
11.16 FANCL FANCG FANCF FANCE FANCD2 FANCC
Sources

GO Terms for Fanconi Anemia, Complementation Group P

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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 20)
# 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 response to gamma radiation GO:0010332 9.59 FANCD2 ERCC6
11 brain morphogenesis GO:0048854 9.58 FANCD2 FANCC
12 DNA repair GO:0006281 9.58 SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
13 neuronal stem cell population maintenance GO:0097150 9.57 FANCD2 FANCC
14 resolution of meiotic recombination intermediates GO:0000712 9.56 SLX4 FANCM
15 regulation of regulatory T cell differentiation GO:0045589 9.55 FANCD2 FANCA
16 positive regulation of double-strand break repair via homologous recombination GO:1905168 9.54 FANCB ERCC6
17 DNA double-strand break processing involved in repair via single-strand annealing GO:0010792 9.54 SLX4 SLX1B SLX1A
18 telomere maintenance via telomere lengthening GO:0010833 9.52 SLX1B SLX1A
19 regulation of CD40 signaling pathway GO:2000348 9.51 FANCD2 FANCA
20 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 10.28 SLX4 SLX1B SLX1A RAD51C PALB2 H2AC18
2 DNA binding GO:0003677 9.81 SLX4 RAD51C PALB2 H2AC18 FANCM FANCI
3 nuclease activity GO:0004518 9.58 SLX1B SLX1A FANCM
4 DNA polymerase binding GO:0070182 9.37 FANCI FANCD2
5 four-way junction DNA binding GO:0000400 9.26 RAD51C FANCM
6 5'-flap endonuclease activity GO:0017108 9.13 SLX4 SLX1B SLX1A
7 crossover junction endodeoxyribonuclease activity GO:0008821 8.92 SLX4 SLX1B SLX1A RAD51C
Sources

Sources for Fanconi Anemia, Complementation Group P

About this section
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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