Details for: FANCA

Gene ID: 2175

Symbol: FANCA

Ensembl ID: ENSG00000187741

Description: FA complementation group A

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 43.5565
    Cell Significance Index: -6.7800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 32.8020
    Cell Significance Index: -8.3200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 26.1320
    Cell Significance Index: -10.7700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 10.3693
    Cell Significance Index: -9.9000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 8.0984
    Cell Significance Index: -9.9900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 3.8039
    Cell Significance Index: -10.1900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.6634
    Cell Significance Index: -10.5100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 2.5623
    Cell Significance Index: -7.8700
  • Cell Name: centroblast (CL0009112)
    Fold Change: 2.2503
    Cell Significance Index: 5.2500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.5992
    Cell Significance Index: -3.5000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.3505
    Cell Significance Index: 133.5900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.2155
    Cell Significance Index: 33.9700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.1593
    Cell Significance Index: 230.0600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.9341
    Cell Significance Index: 52.4200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.8985
    Cell Significance Index: 105.9600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.8527
    Cell Significance Index: 162.2700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.8276
    Cell Significance Index: 23.8500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.7883
    Cell Significance Index: 21.0500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7374
    Cell Significance Index: 44.2700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6740
    Cell Significance Index: 109.6200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.5508
    Cell Significance Index: 11.4300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.4560
    Cell Significance Index: 11.4000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3929
    Cell Significance Index: 17.8100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3663
    Cell Significance Index: 253.3400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.3206
    Cell Significance Index: 8.5800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2753
    Cell Significance Index: 98.7600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.2707
    Cell Significance Index: 10.2500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.2706
    Cell Significance Index: 11.9700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.2591
    Cell Significance Index: 4.4400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2529
    Cell Significance Index: 13.1400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2483
    Cell Significance Index: 224.1700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2336
    Cell Significance Index: 5.0600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1914
    Cell Significance Index: 6.6500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1772
    Cell Significance Index: 12.2600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1700
    Cell Significance Index: 3.6200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.1529
    Cell Significance Index: 17.8200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.1429
    Cell Significance Index: 3.1300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.1429
    Cell Significance Index: 1.9500
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 0.1177
    Cell Significance Index: 1.5700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1121
    Cell Significance Index: 3.9400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1110
    Cell Significance Index: 20.0100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0934
    Cell Significance Index: 18.7300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0923
    Cell Significance Index: 50.4000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0725
    Cell Significance Index: 4.6800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0524
    Cell Significance Index: 23.1700
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.0497
    Cell Significance Index: 0.5400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0462
    Cell Significance Index: 2.8400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0375
    Cell Significance Index: 4.6100
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 0.0278
    Cell Significance Index: 0.2800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0220
    Cell Significance Index: 0.5900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0106
    Cell Significance Index: 0.3400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0074
    Cell Significance Index: 14.0200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0070
    Cell Significance Index: 12.8800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0059
    Cell Significance Index: 9.0100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0024
    Cell Significance Index: 3.3300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0047
    Cell Significance Index: -0.6500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0056
    Cell Significance Index: -3.5700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0094
    Cell Significance Index: -7.1400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0134
    Cell Significance Index: -6.0700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0139
    Cell Significance Index: -10.1800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0142
    Cell Significance Index: -10.5300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0197
    Cell Significance Index: -12.3200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0200
    Cell Significance Index: -11.2800
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: -0.0228
    Cell Significance Index: -0.2700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0257
    Cell Significance Index: -3.7300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0267
    Cell Significance Index: -1.6800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0302
    Cell Significance Index: -1.4200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0325
    Cell Significance Index: -5.5600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0328
    Cell Significance Index: -9.4300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0368
    Cell Significance Index: -3.7600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0385
    Cell Significance Index: -4.9300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0411
    Cell Significance Index: -1.0500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0455
    Cell Significance Index: -3.0600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0485
    Cell Significance Index: -6.2600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0512
    Cell Significance Index: -3.6200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0576
    Cell Significance Index: -12.1300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0586
    Cell Significance Index: -0.9800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0667
    Cell Significance Index: -7.6400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0782
    Cell Significance Index: -1.1200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0814
    Cell Significance Index: -4.9900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0831
    Cell Significance Index: -6.3800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0903
    Cell Significance Index: -4.7400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0909
    Cell Significance Index: -9.4700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0927
    Cell Significance Index: -1.9400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1017
    Cell Significance Index: -2.4400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1050
    Cell Significance Index: -5.4700
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.1281
    Cell Significance Index: -2.1600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1312
    Cell Significance Index: -9.7800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1314
    Cell Significance Index: -3.7500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1341
    Cell Significance Index: -10.6200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1411
    Cell Significance Index: -6.5800
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.1419
    Cell Significance Index: -1.7600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1460
    Cell Significance Index: -4.6500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1520
    Cell Significance Index: -2.2900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1662
    Cell Significance Index: -1.7200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1717
    Cell Significance Index: -5.6200
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1787
    Cell Significance Index: -3.8600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1899
    Cell Significance Index: -4.0300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1903
    Cell Significance Index: -5.5900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2074
    Cell Significance Index: -5.3300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Interstrand Cross-Link Repair**: The FANCA gene is involved in the repair of DNA interstrand cross-links, which are a type of DNA damage that can lead to chromosomal instability and cancer. 2. **Fanconi Anemia Pathway**: The FANCA gene is a key component of the Fanconi anemia pathway, a genetic pathway that regulates DNA repair and cell cycle progression. 3. **Immune System Function**: The FANCA gene is significantly expressed in various immune cells, including tonsil germinal center B cells, immature innate lymphoid cells, and cerebral cortex GABAergic interneurons. 4. **Cellular Localization**: The FANCA protein is localized to the nucleus and cytosol, where it interacts with other proteins to regulate DNA repair and immune response. **Pathways and Functions:** 1. **Antiviral Mechanism by IFN-Stimulated Genes**: The FANCA gene is involved in the regulation of antiviral responses mediated by interferon-stimulated genes. 2. **Chromatin Remodeling**: The FANCA gene regulates chromatin remodeling, which is essential for the regulation of gene expression and DNA repair. 3. **Cytokine Signaling in Immune System**: The FANCA gene is involved in the regulation of cytokine signaling pathways, which are essential for the coordination of immune responses. 4. **DNA Repair**: The FANCA gene is involved in the repair of DNA damage, including interstrand cross-links, which are a type of DNA damage that can lead to chromosomal instability and cancer. 5. **Regulation of CD40 Signaling Pathway**: The FANCA gene regulates the CD40 signaling pathway, which is essential for the activation of immune cells and the coordination of immune responses. **Clinical Significance:** 1. **Fanconi Anemia**: The FANCA gene is a key component of the Fanconi anemia pathway, a genetic disorder characterized by bone marrow failure, cancer, and immunodeficiency. 2. **Cancer**: The FANCA gene is involved in the regulation of DNA repair and cell cycle progression, and its dysregulation has been implicated in several types of cancer, including breast, ovarian, and colon cancer. 3. **Immune-Related Disorders**: The FANCA gene is significantly expressed in various immune cells, and its dysregulation has been implicated in several immune-related disorders, including autoimmune diseases and immunodeficiency disorders. 4. **Neurological Disorders**: The FANCA gene is also involved in the regulation of neuronal function and development, and its dysregulation has been implicated in several neurological disorders, including epilepsy and neurodegenerative diseases. In conclusion, the FANCA gene plays a crucial role in maintaining genomic stability and immune system homeostasis, and its dysregulation has been implicated in several diseases, including Fanconi anemia, cancer, and immune-related disorders. Further research is needed to fully understand the complexities of the FANCA gene and its implications in human health and disease.

Genular Protein ID: 2876220884

Symbol: FANCA_HUMAN

Name: Fanconi anemia group A protein

UniProtKB Accession Codes:

O15360 A5D923 B4DRI7 H3BSR5 O75266 Q6PL10 Q92497 Q96H18 Q9UEA5 Q9UEL8 Q9UEL9 Q9UPK3 Q9Y6M2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CORUM 1 CPTAC 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DNASU 1 DisGeNET 1 EMBL 42 EMDB 6 Ensembl 4 ExpressionAtlas 1 GO 16 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MoonDB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PIR 1 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 2 RefSeq 3 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8896563

Title: Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.

PubMed ID: 8896563

DOI: 10.1038/ng1196-320

PubMed ID: 9169126

Title: The genomic organization of the Fanconi anemia group A (FAA) gene.

PubMed ID: 9169126

DOI: 10.1006/geno.1997.4675

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9721219

Title: Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions.

PubMed ID: 9721219

DOI: 10.1006/geno.1998.5353

PubMed ID: 9711872

Title: Identification of Alu-mediated deletions in the Fanconi anemia gene FAA.

PubMed ID: 9711872

DOI: 10.1002/(sici)1098-1004(1998)12:3<145::aid-humu2>3.0.co;2-g

PubMed ID: 9742112

Title: Functional activity of the Fanconi anemia protein FAA requires FAC binding and nuclear localization.

PubMed ID: 9742112

DOI: 10.1128/mcb.18.10.5952

PubMed ID: 12724401

Title: A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome.

PubMed ID: 12724401

DOI: 10.1128/mcb.23.10.3417-3426.2003

PubMed ID: 9789045

Title: The Fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation.

PubMed ID: 9789045

DOI: 10.1073/pnas.95.22.13085

PubMed ID: 15299030

Title: The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR).

PubMed ID: 15299030

DOI: 10.1074/jbc.m403884200

PubMed ID: 15502827

Title: X-linked inheritance of Fanconi anemia complementation group B.

PubMed ID: 15502827

DOI: 10.1038/ng1458

PubMed ID: 16116422

Title: A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M.

PubMed ID: 16116422

DOI: 10.1038/ng1626

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 18550849

Title: HES1 is a novel interactor of the Fanconi anemia core complex.

PubMed ID: 18550849

DOI: 10.1182/blood-2008-04-152710

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 22343915

Title: FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway.

PubMed ID: 22343915

DOI: 10.1182/blood-2011-10-385963

PubMed ID: 22705371

Title: A ubiquitin-binding protein, FAAP20, links RNF8-mediated ubiquitination to the Fanconi anemia DNA repair network.

PubMed ID: 22705371

DOI: 10.1016/j.molcel.2012.05.026

PubMed ID: 22266823

Title: Regulation of Rev1 by the Fanconi anemia core complex.

PubMed ID: 22266823

DOI: 10.1038/nsmb.2222

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 9399890

Title: Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.

PubMed ID: 9399890

DOI: 10.1086/301632

PubMed ID: 9371798

Title: Sequence variation in the Fanconi anemia gene FAA.

PubMed ID: 9371798

DOI: 10.1073/pnas.94.24.13051

PubMed ID: 10521298

Title: High frequency of large intragenic deletions in the Fanconi anemia group A gene.

PubMed ID: 10521298

DOI: 10.1086/302627

PubMed ID: 10094191

Title: Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.

PubMed ID: 10094191

DOI: 10.1038/sj.ejhg.5200248

PubMed ID: 10210316

Title: A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation.

PubMed ID: 10210316

DOI: 10.1016/s0301-472x(99)00022-3

PubMed ID: 9929978

Title: Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients.

PubMed ID: 9929978

DOI: 10.1007/s100380050106

PubMed ID: 11091222

Title: Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.

PubMed ID: 11091222

DOI: 10.1046/j.1365-2141.2000.02323.x

PubMed ID: 10807541

Title: Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.

PubMed ID: 10807541

DOI: 10.1007/s100380050203

PubMed ID: 17924555

Title: Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

PubMed ID: 17924555

DOI: 10.1002/humu.20625

PubMed ID: 18987736

Title: DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

PubMed ID: 18987736

DOI: 10.1038/nature07485

Sequence Information:

  • Length: 1455
  • Mass: 162775
  • Checksum: 5A1918F2BEF4BC50
  • Sequence:
    • MSDSWVPNSA SGQDPGGRRR AWAELLAGRV KREKYNPERA QKLKESAVRL LRSHQDLNAL 
LLEVEGPLCK KLSLSKVIDC DSSEAYANHS SSFIGSALQD QASRLGVPVG ILSAGMVASS 
VGQICTAPAE TSHPVLLTVE QRKKLSSLLE FAQYLLAHSM FSRLSFCQEL WKIQSSLLLE 
AVWHLHVQGI VSLQELLESH PDMHAVGSWL FRNLCCLCEQ MEASCQHADV ARAMLSDFVQ 
MFVLRGFQKN SDLRRTVEPE KMPQVTVDVL QRMLIFALDA LAAGVQEESS THKIVRCWFG 
VFSGHTLGSV ISTDPLKRFF SHTLTQILTH SPVLKASDAV QMQREWSFAR THPLLTSLYR 
RLFVMLSAEE LVGHLQEVLE TQEVHWQRVL SFVSALVVCF PEAQQLLEDW VARLMAQAFE 
SCQLDSMVTA FLVVRQAALE GPSAFLSYAD WFKASFGSTR GYHGCSKKAL VFLFTFLSEL 
VPFESPRYLQ VHILHPPLVP GKYRSLLTDY ISLAKTRLAD LKVSIENMGL YEDLSSAGDI 
TEPHSQALQD VEKAIMVFEH TGNIPVTVME ASIFRRPYYV SHFLPALLTP RVLPKVPDSR 
VAFIESLKRA DKIPPSLYST YCQACSAAEE KPEDAALGVR AEPNSAEEPL GQLTAALGEL 
RASMTDPSQR DVISAQVAVI SERLRAVLGH NEDDSSVEIS KIQLSINTPR LEPREHMAVD 
LLLTSFCQNL MAASSVAPPE RQGPWAALFV RTMCGRVLPA VLTRLCQLLR HQGPSLSAPH 
VLGLAALAVH LGESRSALPE VDVGPPAPGA GLPVPALFDS LLTCRTRDSL FFCLKFCTAA 
ISYSLCKFSS QSRDTLCSCL SPGLIKKFQF LMFRLFSEAR QPLSEEDVAS LSWRPLHLPS 
ADWQRAALSL WTHRTFREVL KEEDVHLTYQ DWLHLELEIQ PEADALSDTE RQDFHQWAIH 
EHFLPESSAS GGCDGDLQAA CTILVNALMD FHQSSRSYDH SENSDLVFGG RTGNEDIISR 
LQEMVADLEL QQDLIVPLGH TPSQEHFLFE IFRRRLQALT SGWSVAASLQ RQRELLMYKR 
ILLRLPSSVL CGSSFQAEQP ITARCEQFFH LVNSEMRNFC SHGGALTQDI TAHFFRGLLN 
ACLRSRDPSL MVDFILAKCQ TKCPLILTSA LVWWPSLEPV LLCRWRRHCQ SPLPRELQKL 
QEGRQFASDF LSPEAASPAP NPDWLSAAAL HFAIQQVREE NIRKQLKKLD CEREELLVFL 
FFFSLMGLLS SHLTSNSTTD LPKAFHVCAA ILECLEKRKI SWLALFQLTE SDLRLGRLLL 
RVAPDQHTRL LPFAFYSLLS YFHEDAAIRE EAFLHVAVDM YLKLVQLFVA GDTSTVSPPA 
GRSLELKGQG NPVELITKAR LFLLQLIPRC PKKSFSHVAE LLADRGDCDP EVSAALQSRQ 
QAAPDADLSQ EPHLF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.