FANCP
MCID: FNC046
MIFTS: 50

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 xeroderma pigmentosum, variant type and fanconi anemia, complementation group q. 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, bone and kidney, 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 : 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 42)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, variant type 27.1 SLX4 SLX1B SLX1A H2AC18 FANCM FANCL
2 fanconi anemia, complementation group q 26.0 SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
3 fanconi anemia, complementation group a 23.7 SLX4 SLX1B SLX1A RAD51C PALB2 H2AC18
4 maternal uniparental disomy 10.3 SLX4 FANCA
5 maternal uniparental disomy of chromosome 16 10.3 SLX4 FANCA
6 xfe progeroid syndrome 10.2 SLX4 ERCC6
7 hutchinson-gilford progeria syndrome 10.2
8 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.2
9 deficiency anemia 10.2
10 cockayne syndrome 10.2
11 fanconi anemia, complementation group l 10.1 FANCL FANCD2
12 peliosis hepatis 10.1 FANCG FANCA
13 severe combined immunodeficiency with sensitivity to ionizing radiation 10.0 H2AC18 ERCC6
14 vacterl association 10.0 FANCL FANCI FANCB
15 interstitial nephritis, karyomegalic 9.9 SLX4 SLX1B SLX1A FANCI FANCD2
16 autosomal recessive cerebellar ataxia 9.9 H2AC18 FANCB ERCC6
17 esophageal atresia/tracheoesophageal fistula 9.9 FANCC FANCB FANCA
18 tracheoesophageal fistula with or without esophageal atresia 9.8 PALB2 FANCC
19 peritoneum cancer 9.8 RAD51C PALB2 H2AC18
20 nijmegen breakage syndrome 9.7 H2AC18 FANCF FANCD2 FANCB
21 hereditary breast ovarian cancer syndrome 9.6 RAD51C PALB2 FANCG
22 sporadic breast cancer 9.6 RAD51C PALB2 FANCF FANCD2
23 lynch syndrome 9.6 RAD51C PALB2 H2AC18 ERCC6
24 breast-ovarian cancer, familial 1 9.6 RAD51C PALB2
25 xeroderma pigmentosum, complementation group f 9.4 SLX4 SLX1B SLX1A FANCM FANCD2 FAAP24
26 fanconi anemia, complementation group d2 9.4 H2AC18 FANCI FANCG FANCD2 FANCB FANCA
27 fanconi anemia, complementation group e 9.2 FANCG FANCF FANCE FANCD2 FANCC FANCA
28 seckel syndrome 9.1 H2AC18 FANCM FANCI FANCE FANCD2 FANCA
29 fanconi anemia, complementation group c 9.1 FANCL FANCI FANCF FANCD2 FANCC FANCB
30 fanconi anemia, complementation group f 9.0 H2AC18 FANCG FANCF FANCE FANCD2 FANCC
31 fanconi anemia, complementation group b 8.8 FANCL FANCG FANCF FANCE FANCD2 FANCC
32 fanconi anemia, complementation group u 8.8 SLX4 RAD51C FANCM FANCL FANCI FANCF
33 squamous cell carcinoma, head and neck 8.6 H2AC18 FANCL FANCG FANCF FANCE FANCD2
34 fanconi anemia, complementation group i 8.2 H2AC18 FANCM FANCI FANCF FANCD2 FANCA
35 esophageal atresia 8.1 FANCM FANCL FANCI FANCG FANCF FANCE
36 fanconi anemia, complementation group v 7.9 SLX4 FANCM FANCL FANCI FANCE FANCD2
37 fanconi anemia, complementation group r 7.5 SLX4 RAD51C PALB2 FANCM FANCL FANCI
38 fanconi anemia, complementation group t 6.5 SLX4 H2AC18 FANCM FANCL FANCI FANCG
39 fanconi anemia, complementation group o 6.5 SLX4 RAD51C PALB2 FANCM FANCL FANCI
40 fanconi anemia, complementation group n 6.2 SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
41 fanconi anemia, complementation group j 6.2 SLX4 RAD51C PALB2 H2AC18 FANCM FANCL
42 fanconi anemia, complementation group d1 6.2 SLX4 RAD51C PALB2 H2AC18 FANCM FANCL

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 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:

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 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 ERCC6 FAAP20 FANCA FANCB FANCC FANCD2
2 endocrine/exocrine gland MP:0005379 9.93 FAAP20 FANCA FANCB FANCC FANCD2 FANCE
3 reproductive system MP:0005389 9.44 FAAP20 FANCA FANCB FANCC FANCD2 FANCE
4 neoplasm MP:0002006 9.43 ERCC6 FANCA FANCD2 FANCF FANCM PALB2

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 Marrow, Bone, Kidney, Breast, Eye

Publications for Fanconi Anemia, Complementation Group P

Articles related to Fanconi Anemia, Complementation Group P:

(show all 39)
# Title Authors PMID Year
1
Mutations of the SLX4 gene in Fanconi anemia. 6 56 61
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
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
9
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. 61
32235514 2020
10
SLX4IP acts with SLX4 and XPF-ERCC1 to promote interstrand crosslink repair. 61
31495888 2019
11
The role of SLX4 and its associated nucleases in DNA interstrand crosslink repair. 61
30576517 2019
12
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
13
SLX4: multitasking to maintain genome stability. 61
30284473 2018
14
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
15
Mgm101: A double-duty Rad52-like protein. 61
27636878 2016
16
Elucidation of the Fanconi Anemia Protein Network in Meiosis and Its Function in the Regulation of Histone Modifications. 61
27760317 2016
17
Upregulated LINE-1 Activity in the Fanconi Anemia Cancer Susceptibility Syndrome Leads to Spontaneous Pro-inflammatory Cytokine Production. 61
27428429 2016
18
Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia. 61
26841305 2016
19
Disruption of SLX4-MUS81 Function Increases the Relative Biological Effectiveness of Proton Radiation. 61
27084631 2016
20
Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations. 61
26453996 2015
21
Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemia reveals putative predisposing mutations in Fanconi anemia genes. 61
26201965 2015
22
Alterations of DNA repair genes in the NCI-60 cell lines and their predictive value for anticancer drug activity. 61
25758781 2015
23
Nuclease delivery: versatile functions of SLX4/FANCP in genome maintenance. 61
24938228 2014
24
XPF-ERCC1 acts in Unhooking DNA interstrand crosslinks in cooperation with FANCD2 and FANCP/SLX4. 61
24726325 2014
25
Resolving branched DNA intermediates with structure-specific nucleases during replication in eukaryotes. 61
24008669 2013
26
Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families. 61
23211700 2013
27
Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP. 61
23033263 2013
28
Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases. 61
22911665 2013
29
Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4. 61
23093618 2013
30
A protein prioritization approach tailored for the FA/BRCA pathway. 61
23620800 2013
31
Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data. 61
24349080 2013
32
The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4. 61
22907656 2012
33
A prototypical Fanconi anemia pathway in lower eukaryotes? 61
22895051 2012
34
Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families. 61
22401137 2012
35
Components of a Fanconi-like pathway control Pso2-independent DNA interstrand crosslink repair in yeast. 61
22912599 2012
36
Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases. 61
22383991 2012
37
Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer. 61
21805310 2011
38
Cancel all Hollidays for SLX4 mutations: identification of a new Fanconi anemia subtype, FANCP. 61
21476996 2011
39
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 top 50) (show all 257) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.192A>G (p.Lys64=)SNV Conflicting interpretations of pathogenicity 456292 rs756720856 16:3658774-3658774 16:3608773-3608773
9 SLX4 NM_032444.4(SLX4):c.630A>G (p.Leu210=)SNV Conflicting interpretations of pathogenicity 526487 rs746155183 16:3656605-3656605 16:3606604-3606604
10 SLX4 NM_032444.4(SLX4):c.4830C>T (p.Ser1610=)SNV Conflicting interpretations of pathogenicity 699428 16:3633421-3633421 16:3583420-3583420
11 SLX4 NM_032444.4(SLX4):c.4740-6C>TSNV Conflicting interpretations of pathogenicity 697745 16:3633517-3633517 16:3583516-3583516
12 SLX4 NM_032444.4(SLX4):c.738A>G (p.Gln246=)SNV Conflicting interpretations of pathogenicity 705304 16:3656497-3656497 16:3606496-3606496
13 SLX4 NM_032444.4(SLX4):c.3367T>C (p.Ser1123Pro)SNV Conflicting interpretations of pathogenicity 188281 rs201582780 16:3640272-3640272 16:3590271-3590271
14 SLX4 NM_032444.4(SLX4):c.3774C>T (p.Pro1258=)SNV Conflicting interpretations of pathogenicity 215952 rs146054214 16:3639865-3639865 16:3589864-3589864
15 SLX4 NM_032444.4(SLX4):c.339T>C (p.Ser113=)SNV Conflicting interpretations of pathogenicity 215951 rs144326379 16:3658627-3658627 16:3608626-3608626
16 SLX4 NM_032444.4(SLX4):c.231A>G (p.Gln77=)SNV Conflicting interpretations of pathogenicity 241670 rs143279888 16:3658735-3658735 16:3608734-3608734
17 SLX4 NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys)SNV Conflicting interpretations of pathogenicity 407938 rs140600202 16:3641280-3641280 16:3591279-3591279
18 SLX4 NM_032444.4(SLX4):c.3178C>T (p.Arg1060Trp)SNV Conflicting interpretations of pathogenicity 414700 rs144273492 16:3640461-3640461 16:3590460-3590460
19 SLX4 NM_032444.4(SLX4):c.86G>A (p.Arg29His)SNV Conflicting interpretations of pathogenicity 407911 rs149117119 16:3658880-3658880 16:3608879-3608879
20 SLX4 NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu)SNV Conflicting interpretations of pathogenicity 407935 rs149126845 16:3647691-3647691 16:3597690-3597690
21 SLX4 NM_032444.4(SLX4):c.3189C>T (p.Gly1063=)SNV Conflicting interpretations of pathogenicity 414713 rs200742809 16:3640450-3640450 16:3590449-3590449
22 SLX4 NM_032444.4(SLX4):c.422G>T (p.Gly141Val)SNV Conflicting interpretations of pathogenicity 423992 rs77306735 16:3658544-3658544 16:3608543-3608543
23 SLX4 NM_032444.4(SLX4):c.4530G>T (p.Leu1510=)SNV Conflicting interpretations of pathogenicity 436777 rs139254595 16:3639109-3639109 16:3589108-3589108
24 SLX4 NM_032444.4(SLX4):c.833G>A (p.Arg278Gln)SNV Conflicting interpretations of pathogenicity 456339 rs201192909 16:3652236-3652236 16:3602235-3602235
25 SLX4 NM_032444.4(SLX4):c.426T>A (p.Gly142=)SNV Conflicting interpretations of pathogenicity 456322 rs377500336 16:3658540-3658540 16:3608539-3608539
26 SLX4 NM_032444.4(SLX4):c.4024A>G (p.Ser1342Gly)SNV Conflicting interpretations of pathogenicity 436779 rs140051968 16:3639615-3639615 16:3589614-3589614
27 SLX4 NM_032444.4(SLX4):c.85C>T (p.Arg29Cys)SNV Conflicting interpretations of pathogenicity 456340 rs144832924 16:3658881-3658881 16:3608880-3608880
28 SLX4 NM_032444.4(SLX4):c.2609C>T (p.Ala870Val)SNV Conflicting interpretations of pathogenicity 241672 rs149584080 16:3641030-3641030 16:3591029-3591029
29 SLX4 NM_032444.4(SLX4):c.1707G>A (p.Pro569=)SNV Conflicting interpretations of pathogenicity 241666 rs141687678 16:3646371-3646371 16:3596370-3596370
30 SLX4 NM_032444.4(SLX4):c.590T>C (p.Val197Ala)SNV Conflicting interpretations of pathogenicity 241698 rs147826749 16:3656645-3656645 16:3606644-3606644
31 SLX4 NM_032444.4(SLX4):c.742G>A (p.Glu248Lys)SNV Conflicting interpretations of pathogenicity 319184 rs148547201 16:3656493-3656493 16:3606492-3606492
32 SLX4 NM_032444.4(SLX4):c.4494G>A (p.Leu1498=)SNV Conflicting interpretations of pathogenicity 319152 rs146532299 16:3639145-3639145 16:3589144-3589144
33 SLX4 NM_032444.4(SLX4):c.489T>G (p.Gly163=)SNV Conflicting interpretations of pathogenicity 319186 rs201211891 16:3658477-3658477 16:3608476-3608476
34 SLX4 NM_032444.4(SLX4):c.3912C>T (p.Val1304=)SNV Conflicting interpretations of pathogenicity 319156 rs140254478 16:3639727-3639727 16:3589726-3589726
35 SLX4 NM_032444.4(SLX4):c.1911G>T (p.Ser637=)SNV Conflicting interpretations of pathogenicity 319172 rs200013924 16:3646167-3646167 16:3596166-3596166
36 SLX4 NM_032444.4(SLX4):c.2235C>T (p.Thr745=)SNV Conflicting interpretations of pathogenicity 319166 rs75184268 16:3642792-3642792 16:3592791-3592791
37 SLX4 NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu)SNV Conflicting interpretations of pathogenicity 319162 rs139287784 16:3640664-3640664 16:3590663-3590663
38 SLX4 NM_032444.4(SLX4):c.4347G>A (p.Leu1449=)SNV Conflicting interpretations of pathogenicity 319153 rs373300793 16:3639292-3639292 16:3589291-3589291
39 SLX4 NM_032444.4(SLX4):c.3118C>T (p.Pro1040Ser)SNV Uncertain significance 319158 rs201359490 16:3640521-3640521 16:3590520-3590520
40 SLX4 NM_032444.4(SLX4):c.-416G>ASNV Uncertain significance 319203 rs528320603 16:3659381-3659381 16:3609380-3609380
41 SLX4 NM_032444.4(SLX4):c.-603+8G>CSNV Uncertain significance 319206 rs886051987 16:3661553-3661553 16:3611552-3611552
42 SLX4 NM_032444.4(SLX4):c.5042C>T (p.Ser1681Leu)SNV Uncertain significance 319145 rs530123827 16:3633209-3633209 16:3583208-3583208
43 SLX4 NM_032444.4(SLX4):c.4918G>C (p.Gly1640Arg)SNV Uncertain significance 319147 rs368102037 16:3633333-3633333 16:3583332-3583332
44 SLX4 NM_032444.4(SLX4):c.4889C>A (p.Ala1630Asp)SNV Uncertain significance 319148 rs886051977 16:3633362-3633362 16:3583361-3583361
45 SLX4 NM_032444.4(SLX4):c.2681T>G (p.Val894Gly)SNV Uncertain significance 319164 rs145137472 16:3640958-3640958 16:3590957-3590957
46 SLX4 NM_032444.4(SLX4):c.2057A>G (p.Asn686Ser)SNV Uncertain significance 319168 rs571330689 16:3644557-3644557 16:3594556-3594556
47 SLX4 NM_032444.4(SLX4):c.2006G>A (p.Arg669His)SNV Uncertain significance 319169 rs200807331 16:3645613-3645613 16:3595612-3595612
48 SLX4 NM_032444.4(SLX4):c.1583G>A (p.Ser528Asn)SNV Uncertain significance 319174 rs752899329 16:3647480-3647480 16:3597479-3597479
49 SLX4 NM_032444.4(SLX4):c.1547C>T (p.Ala516Val)SNV Uncertain significance 319175 rs199683722 16:3647516-3647516 16:3597515-3597515
50 SLX4 NM_032444.4(SLX4):c.1520G>A (p.Arg507Lys)SNV Uncertain significance 319176 rs762550449 16:3647543-3647543 16:3597542-3597542

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
12.6 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 11.88 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 10.16 SLX4 SLX1B SLX1A RAD51C PALB2 H2AC18
2 nucleoplasm GO:0005654 9.93 SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
3 nuclear body GO:0016604 9.67 FANCL FANCD2 FAAP20 ERCC6
4 Slx1-Slx4 complex GO:0033557 9.43 SLX4 SLX1B SLX1A
5 Fanconi anaemia nuclear complex GO:0043240 9.36 FANCM FANCL FANCG FANCF FANCE FANCC
6 Holliday junction resolvase complex GO:0048476 9.32 SLX4 RAD51C

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 10.06 SLX4 SLX1B SLX1A FANCM FANCL FANCI
2 cellular response to DNA damage stimulus GO:0006974 9.93 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 9.74 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 DNA repair GO:0006281 9.6 SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
11 neuronal stem cell population maintenance GO:0097150 9.58 FANCD2 FANCC
12 brain morphogenesis GO:0048854 9.58 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 10.11 SLX4 SLX1B SLX1A RAD51C PALB2 FANCM
2 DNA binding GO:0003677 10.01 RAD51C PALB2 H2AC18 FANCM FANCI FAAP24
3 nuclease activity GO:0004518 9.54 SLX1B SLX1A FANCM
4 DNA polymerase binding GO:0070182 9.32 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 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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