Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

CARTPT (CART Prepropeptide)

Written2013-11Kalle Landerholm, Nils Wierup
Department of Surgery, Ryhov County Hospital, SE-551 85 Jonkoping, Sweden (KL); Neuroendocrine Cell Biology, Department of Clinical Sciences in Malmo, Lund University, Skane University Hospital, Clinical Research Centre, 91-12-60, Jan Waldenstroms gata 35, SE-205 02 Malmo, Sweden (NW)

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)CART
Other alias
HGNC (Hugo) CARTPT
LocusID (NCBI) 9607
Atlas_Id 52655
Location 5q13.2  [Link to chromosome band 5q13]
Location_base_pair Starts at 71719163 and ends at 71721048 bp from pter ( according to hg19-Feb_2009)  [Mapping CARTPT.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
Note Cocaine- and amphetamine-regulated transcript (CART) was discovered in 1995 by Douglass et al. as an mRNA that was upregulated in the rat brain in response to psychostimulant administration (Douglass et al., 1995).

DNA/RNA

Description The human CARTPT gene spans 1886 base pairs and includes three exons and two introns (Douglass and Daoud, 1996).
Transcription Transcription of the 1886 base pair (bp) long CARTPT gene including three exons, yields a 933 bases CARTPT mRNA, which in turn is translated into the 116 amino acid (aa) long prepro-CART peptide. The first 27 amino acid residues serve as a hydrophobic N-terminal signal sequence, which is cleaved, resulting in the 89 aa long pro-CART peptide (Douglass et al., 1995). Pro-CART is subsequently subject to processing by prohormone/proprotein convertases (PCs) during the regulated secretory pathway in the Golgi apparatus, immature secretory granules and finally mature secretory granules (Stein et al., 2006b). PC1/3 is primarily responsible for producing the intermediate peptide 10-89, whereas PC2 and to a lesser extent PC5/6A generate the two bioactive CART peptides (42-89 and 49-89) (Stein et al., 2006a; Stein et al., 2006b). In addition, there are a number of smaller CART peptide fragments of uncertain importance (Kuhar and Yoho, 1999; Dylag et al., 2006; Stein et al., 2006b).

Protein

 
Description Prepro-CART is a 116 aa long peptide with a molecular weight of 12829 Da. As described above, posttranslational modifications yield an 89 aa long pro-CART peptide (28-116) and eventually two bioactive CART peptides (42-89 and 49-89).
Expression CART peptides have been found in the central, peripheral and enteric nervous systems, and also in endocrine cells in the pancreatic islets (Jensen et al., 1999; Wierup et al., 2004; Wierup and Sundler, 2006), the GI tract mucosa (Ekblad et al., 2003), the thyroid (Wierup et al., 2007), and the adrenal medulla (Dun et al., 2006).
Localisation CART is localized to the secretory granules of neuroendocrine cells as demonstrated in rat pancreatic β-cells (Wierup et al., 2006).
Function CART peptide is a brain-gut peptide, acting both as a neurotransmitter and as a hormone. Within the CNS, the spatial distribution of CART peptides together with various experimental studies suggest a role of CART peptides in regulating food intake and body weight (Kuhar et al., 1999; Rogge et al., 2008) with an overall anorexigenic effect via largely unknown mechanisms (Hunter et al., 2004; Rogge et al., 2008). This is also supported by observations that CARTPT null mice and humans carrying a mutated CARTPT gene develop obesity and signs of type 2 diabetes (Asnicar et al., 2001; del Giudice et al., 2001; Guérardel et al., 2005; Wierup et al., 2005). In addition, there is evidence of CART involvement in other brain processes such as mechanisms of reward and stress response (Kuhar et al., 1999; Jaworski et al., 2006; Rogge et al., 2008).
Hormonal expression of CART in pancreatic islets occurs mainly in somatostatin-producing δ-cells (Jensen et al., 1999; Wierup and Sundler, 2006), and the produced CART peptides participate in the regulation of insulin, glucagon, and somatostatin secretion (Wierup and Sundler, 2006; Wierup et al., 2006). Indeed, CART is necessary for normal islet function, since Cart null mice have diminished insulin secretion and reduced glucose elimination (Wierup et al., 2005). Interestingly, there is recent evidence that CART is crucial for pancreatic islet β-cell viability, both by reducing apoptosis and by increasing proliferation via several different pathways (Sathanoori et al., 2013).
Within the GI tract mucosa, CART expression has been identified mainly in gastrin-producing G-cells (Ekblad et al., 2003). The physiological function of CART in the enteric neurons and GI endocrine cells remains poorly elucidated (Ekblad, 2006).
Homology CART is highly conserved between species. The amino acid sequence is 95% identical between humans, rats and mice (Douglass and Daoud, 1996; Stein et al., 2006b). Goldfish pro-CART peptide is 40-50% homologous to the mammalian counterpart, with 70-80% homology in the biologically active C-terminal portions of the peptide (Volkoff and Peter, 2001).

Mutations

Somatic A missense mutation resulting in the substitution of Leu with Phe at codon 34, within the NH2-terminal CART region, was identified in an Italian family. Heterozygosity for this mutation was associated with severe obesity within the family and was not found in controls. Resting metabolic rates were lower than expected in subjects with the mutation (del Giudice et al., 2001).
A SNP within the CARTPT gene (SNP-3608T>C (rs7379701/rs4703647)) has been demonstrated to possibly contribute to the genetic risk for obesity (Guérardel et al., 2005).

Implicated in

Note
  
Entity Neuroendocrine neoplasia (NEN)
Note CART expression in neoplastic tissue was first demonstrated in rat pancreatic islet tumours (Jensen et al., 1999). CART was later found to co-localize with insulin in human insulin-producing pancreatic neuroendocrine neoplasia (NEN) (Wierup and Sundler, 2006). Next, Bech et al. found raised levels of circulating CART in patients with a wide range of various NENs (Bech et al., 2008). We recently demonstrated presence of CART in tumour tissue of human NENs originating in the stomach, ileum, rectum, pancreas, and thyroid (Landerholm et al., 2011).
Disease CARTPT is expressed in several types of NENs including gastric NEN, small intestinal NEN (SI-NEN), rectal NEN, pancreatic NEN (P-NEN) and medullary thyroid cancer. CART peptide is not detected in all tumours, and when present levels range from scarce to abundant (Landerholm et al., 2011).
Prognosis As CART is expressed in all examined types of NEN, it is a tentative diagnostic and/or prognostic biomarker (Landerholm et al., 2011). The only study to date investigating the use of circulating CART found that the presently used Chromogranin A outperforms CART as a general diagnostic NEN biomarker (Bech et al., 2008; Bech et al., 2013). However, the sensitivity of CART was better for P-NENs than other NENs and circulating CART was raised in 95% of progressive P-NENs.
There is also only one study of tumour tissue CART as a biomarker for NENs, demonstrating that increasing CART levels are associated with worse survival in SI-NENs (see below) (Landerholm et al., 2012).
  
  
Entity Small intestinal neuroendocrine tumours (SI-NETs)
Disease Neuroendocrine tumours (NETs) correspond to grade 1 and 2 NENs, as opposed to grade 3 neuroendocrine carcinomas (NECs) (Rindi et al., 2007; Sobin et al., 2009). SI-NETs arise from enteroendocrine cells or their precursors in the small intestinal mucosa. At presentation, a majority of SI-NET patients already have metastases to regional mesenteric lymph nodes or to distant sites, in particular the liver. SI-NETs are typically slow-growing and produce and secrete several bioactive substances including serotonin, tachykinins and growth factors. These substances cause several symptoms that are characteristical of SI-NETs; in particular marked fibrosis of the mesentery, diarrhoea, flushing, and tricuspid valvular lesions. CART peptide has been detected in varying levels in SI-NET primary tumours and metastases (Landerholm et al., 2011), but no association was found between tumour CART levels and the abovementioned symptoms (Landerholm et al., 2012).
Prognosis The only study to investigate CART expression as a prognostic factor in SI-NET found that increasing CART peptide levels in the tumour was independently associated with worse survival (Landerholm et al., 2012).
Oncogenesis Addition of CART peptide in vitro caused an increase in viability of cell lines GLUTag (murine enteroendocrine cancer cell line) and HCT-116 (human colon cancer cell line) via enhanced proliferation (Landerholm et al., 2012).
  
  
Entity Breast cancer
Note CART peptide is expressed in tumour cells in some primary breast cancer tumours and, when present, also in their corresponding lymph node metastases. CART peptide has not been found in normal breast tissue (Brennan et al., 2012).
Prognosis High CART was an independent poor prognostic factor for overall survival in lymph node negative breast cancer. CART was found to induce transcriptional activity of estrogen receptor-α (ERα) in a ligand-independent manner. In vitro, CART protected breast cancer cells from tamoxifen-mediated cell death and in three breast cancer cohorts high CART expression was predictive of poor outcome in tamoxifen-treated patients (Brennan et al., 2012).
  

Bibliography

Absence of cocaine- and amphetamine-regulated transcript results in obesity in mice fed a high caloric diet.
Asnicar MA, Smith DP, Yang DD, Heiman ML, Fox N, Chen YF, Hsiung HM, Koster A.
Endocrinology. 2001 Oct;142(10):4394-400.
PMID 11564703
 
Elevated cocaine- and amphetamine-regulated transcript immunoreactivity in the circulation of patients with neuroendocrine malignancy.
Bech P, Winstanley V, Murphy KG, Sam AH, Meeran K, Ghatei MA, Bloom SR.
J Clin Endocrinol Metab. 2008 Apr;93(4):1246-53. doi: 10.1210/jc.2007-1946. Epub 2008 Jan 22.
PMID 18211969
 
The biochemical utility of chromogranin A, chromogranin B and cocaine- and amphetamine-regulated transcript for neuroendocrine neoplasia.
Bech PR, Martin NM, Ramachandran R, Bloom SR.
Ann Clin Biochem. 2014 Jan;51(Pt 1):8-21. doi: 10.1177/0004563213489670. Epub 2013 Aug 12.
PMID 23939195
 
The cocaine- and amphetamine-regulated transcript mediates ligand-independent activation of ERα, and is an independent prognostic factor in node-negative breast cancer.
Brennan DJ, O'Connor DP, Laursen H, McGee SF, McCarthy S, Zagozdzon R, Rexhepaj E, Culhane AC, Martin FM, Duffy MJ, Landberg G, Ryden L, Hewitt SM, Kuhar MJ, Bernards R, Millikan RC, Crown JP, Jirstrom K, Gallagher WM.
Oncogene. 2012 Jul 26;31(30):3483-94. doi: 10.1038/onc.2011.519. Epub 2011 Dec 5.
PMID 22139072
 
Characterization of the human cDNA and genomic DNA encoding CART: a cocaine- and amphetamine-regulated transcript.
Douglass J, Daoud S.
Gene. 1996 Mar 9;169(2):241-5.
PMID 8647455
 
Cocaine- and amphetamine-regulated transcript peptide and sympatho-adrenal axis.
Dun SL, Brailoiu GC, Yang J, Chang JK, Dun NJ.
Peptides. 2006 Aug;27(8):1949-55. Epub 2006 May 16. (REVIEW)
PMID 16707193
 
The activity of CART peptide fragments.
Dylag T, Kotlinska J, Rafalski P, Pachuta A, Silberring J.
Peptides. 2006 Aug;27(8):1926-33. Epub 2006 May 30. (REVIEW)
PMID 16730858
 
Cocaine- and amphetamine-regulated transcript: distribution and function in rat gastrointestinal tract.
Ekblad E, Kuhar M, Wierup N, Sundler F.
Neurogastroenterol Motil. 2003 Oct;15(5):545-57.
PMID 14507354
 
CART in the enteric nervous system.
Ekblad E.
Peptides. 2006 Aug;27(8):2024-30. Epub 2006 Jun 8. (REVIEW)
PMID 16759747
 
Analysis of sequence variability in the CART gene in relation to obesity in a Caucasian population.
Guerardel A, Barat-Houari M, Vasseur F, Dina C, Vatin V, Clement K, Eberle D, Vasseur-Delannoy V, Bell CG, Galan P, Hercberg S, Helbecque N, Potoczna N, Horber FF, Boutin P, Froguel P.
BMC Genet. 2005 Apr 11;6:19.
PMID 15823203
 
CART in feeding and obesity.
Hunter RG, Philpot K, Vicentic A, Dominguez G, Hubert GW, Kuhar MJ.
Trends Endocrinol Metab. 2004 Nov;15(9):454-9. (REVIEW)
PMID 15519893
 
The role of CART in the reward/reinforcing properties of psychostimulants.
Jaworski JN, Jones DC.
Peptides. 2006 Aug;27(8):1993-2004. (REVIEW)
PMID 16766084
 
The hypothalamic satiety peptide CART is expressed in anorectic and non-anorectic pancreatic islet tumors and in the normal islet of Langerhans.
Jensen PB, Kristensen P, Clausen JT, Judge ME, Hastrup S, Thim L, Wulff BS, Foged C, Jensen J, Holst JJ, Madsen OD.
FEBS Lett. 1999 Mar 26;447(2-3):139-43.
PMID 10214934
 
CART peptides: novel addiction- and feeding-related neuropeptides.
Kuhar MJ, Dall Vechia SE.
Trends Neurosci. 1999 Jul;22(7):316-20. (REVIEW)
PMID 10370256
 
CART peptide analysis by Western blotting.
Kuhar MJ, Yoho LL.
Synapse. 1999 Sep 1;33(3):163-71.
PMID 10420164
 
Expression of cocaine- and amphetamine-regulated transcript is associated with worse survival in small bowel carcinoid tumors.
Landerholm K, Shcherbina L, Falkmer SE, Jarhult J, Wierup N.
Clin Cancer Res. 2012 Jul 1;18(13):3668-76. doi: 10.1158/1078-0432.CCR-11-2513. Epub 2012 May 2.
PMID 22553341
 
CART peptide stimulation of G protein-mediated signaling in differentiated PC12 cells: identification of PACAP 6-38 as a CART receptor antagonist.
Lin Y, Hall RA, Kuhar MJ.
Neuropeptides. 2011 Oct;45(5):351-8. doi: 10.1016/j.npep.2011.07.006. Epub 2011 Aug 19.
PMID 21855138
 
TNM staging of midgut and hindgut (neuro) endocrine tumors: a consensus proposal including a grading system.
Rindi G, Kloppel G, Couvelard A, Komminoth P, Korner M, Lopes JM, McNicol AM, Nilsson O, Perren A, Scarpa A, Scoazec JY, Wiedenmann B.
Virchows Arch. 2007 Oct;451(4):757-62. Epub 2007 Aug 3.
PMID 17674042
 
CART peptides: regulators of body weight, reward and other functions.
Rogge G, Jones D, Hubert GW, Lin Y, Kuhar MJ.
Nat Rev Neurosci. 2008 Oct;9(10):747-58. doi: 10.1038/nrn2493. (REVIEW)
PMID 18802445
 
Cocaine- and amphetamine-regulated transcript (CART) protects beta cells against glucotoxicity and increases cell proliferation.
Sathanoori R, Olde B, Erlinge D, Goransson O, Wierup N.
J Biol Chem. 2013 Feb 1;288(5):3208-18. doi: 10.1074/jbc.M112.437145. Epub 2012 Dec 16.
PMID 23250745
 
UICC International Union Against Cancer: TNM Classification of Malignant Tumours (7th ed.).
Sobin LH, Gospodarowicz MK, Wittekind C, editors.
Wiley-Blackwell: Chichester, UK, 2009.
 
RNAi-mediated silencing of prohormone convertase (PC) 5/6 expression leads to impairment in processing of cocaine- and amphetamine-regulated transcript (CART) precursor.
Stein J, Shah R, Steiner DF, Dey A.
Biochem J. 2006a Nov 15;400(1):209-15.
PMID 16800814
 
Processing of cocaine- and amphetamine-regulated transcript (CART) precursor proteins by prohormone convertases (PCs) and its implications.
Stein J, Steiner DF, Dey A.
Peptides. 2006b Aug;27(8):1919-25. Epub 2006 Jun 19. (REVIEW)
PMID 16784796
 
Characterization of two forms of cocaine- and amphetamine-regulated transcript (CART) peptide precursors in goldfish: molecular cloning and distribution, modulation of expression by nutritional status, and interactions with leptin.
Volkoff H, Peter RE.
Endocrinology. 2001 Dec;142(12):5076-88.
PMID 11713200
 
CART regulates islet hormone secretion and is expressed in the beta-cells of type 2 diabetic rats.
Wierup N, Bjorkqvist M, Kuhar MJ, Mulder H, Sundler F.
Diabetes. 2006 Feb;55(2):305-11.
PMID 16443761
 
Characterisation of CART-containing neurons and cells in the porcine pancreas, gastro-intestinal trac4, adRen`l and thyroid glands.
Wierup N, Gunnarsdottir A, Ekblad E, Sundler F.
BMC Neurosci. 2007 Jul 11;8:51.
PMID 17625001
 
Cocaine- and amphetamine-regulated transcript (CART) is expressed in several islet cell types during rat development.
Wierup N, Kuhar M, Nilsson BO, Mulder H, Ekblad E, Sundler F.
J Histochem Cytochem. 2004 Feb;52(2):169-77.
PMID 14729868
 
CART knock out mice have impaired insulin secretion and glucose intolerance, altered beta cell morphology and increased body weight.
Wierup N, Richards WG, Bannon AW, Kuhar MJ, Ahren B, Sundler F.
Regul Pept. 2005 Jul 15;129(1-3):203-11.
PMID 15927717
 
CART is a novel islet regulatory peptide.
Wierup N, Sundler F.
Peptides. 2006 Aug;27(8):2031-6. Epub 2006 Jul 13. (REVIEW)
PMID 16842887
 
Mutational screening of the CART gene in obese children: identifying a mutation (Leu34Phe) associated with reduced resting energy expenditure and cosegregating with obesity phenotype in a large family.
del Giudice EM, Santoro N, Cirillo G, D'Urso L, Di Toro R, Perrone L.
Diabetes. 2001 Sep;50(9):2157-60.
PMID 11522684
 

Citation

This paper should be referenced as such :
Landerholm, K ; Wierup, N
CARTPT (CART Prepropeptide)
Atlas Genet Cytogenet Oncol Haematol. 2014;18(7):453-456.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/CARTPTID52655ch5q13.html


External links

Nomenclature
HGNC (Hugo)CARTPT   24323
Cards
AtlasCARTPTID52655ch5q13
Entrez_Gene (NCBI)CARTPT  9607  CART prepropeptide
AliasesCART
GeneCards (Weizmann)CARTPT
Ensembl hg19 (Hinxton)ENSG00000164326 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164326 [Gene_View]  chr5:71719163-71721048 [Contig_View]  CARTPT [Vega]
ICGC DataPortalENSG00000164326
TCGA cBioPortalCARTPT
AceView (NCBI)CARTPT
Genatlas (Paris)CARTPT
WikiGenes9607
SOURCE (Princeton)CARTPT
Genetics Home Reference (NIH)CARTPT
Genomic and cartography
GoldenPath hg38 (UCSC)CARTPT  -     chr5:71719163-71721048 +  5q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CARTPT  -     5q13.2   [Description]    (hg19-Feb_2009)
EnsemblCARTPT - 5q13.2 [CytoView hg19]  CARTPT - 5q13.2 [CytoView hg38]
Mapping of homologs : NCBICARTPT [Mapview hg19]  CARTPT [Mapview hg38]
OMIM601665   602606   
Gene and transcription
Genbank (Entrez)AI417979 BC029882 CK300473 CR542216 EU831800
RefSeq transcript (Entrez)NM_004291
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CARTPT
Cluster EST : UnigeneHs.1707 [ NCBI ]
CGAP (NCI)Hs.1707
Alternative Splicing GalleryENSG00000164326
Gene ExpressionCARTPT [ NCBI-GEO ]   CARTPT [ EBI - ARRAY_EXPRESS ]   CARTPT [ SEEK ]   CARTPT [ MEM ]
Gene Expression Viewer (FireBrowse)CARTPT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9607
GTEX Portal (Tissue expression)CARTPT
Human Protein AtlasENSG00000164326-CARTPT [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16568   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16568  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16568
Splice isoforms : SwissVarQ16568
PhosPhoSitePlusQ16568
Domains : Interpro (EBI)CART   
Domain families : Pfam (Sanger)CART (PF06373)   
Domain families : Pfam (NCBI)pfam06373   
Conserved Domain (NCBI)CARTPT
DMDM Disease mutations9607
Blocks (Seattle)CARTPT
PDB (SRS)1HY9   
PDB (PDBSum)1HY9   
PDB (IMB)1HY9   
PDB (RSDB)1HY9   
Structural Biology KnowledgeBase1HY9   
SCOP (Structural Classification of Proteins)1HY9   
CATH (Classification of proteins structures)1HY9   
SuperfamilyQ16568
Human Protein Atlas [tissue]ENSG00000164326-CARTPT [tissue]
Peptide AtlasQ16568
HPRD04006
IPIIPI00002925   
Protein Interaction databases
DIP (DOE-UCLA)Q16568
IntAct (EBI)Q16568
FunCoupENSG00000164326
BioGRIDCARTPT
STRING (EMBL)CARTPT
ZODIACCARTPT
Ontologies - Pathways
QuickGOQ16568
Ontology : AmiGOactivation of MAPKK activity  cellular glucose homeostasis  molecular_function  neuropeptide hormone activity  protein binding  extracellular space  extracellular space  signal transduction  G-protein coupled receptor signaling pathway  neuropeptide signaling pathway  cell-cell signaling  chemical synaptic transmission  adult feeding behavior  cellular response to starvation  cellular response to starvation  secretory granule  negative regulation of appetite  negative regulation of appetite  positive regulation of epinephrine secretion  circadian regulation of gene expression  negative regulation of osteoclast differentiation  positive regulation of blood pressure  negative regulation of bone resorption  regulation of insulin secretion  positive regulation of transmission of nerve impulse  negative regulation of glucagon secretion  somatostatin secretion  
Ontology : EGO-EBIactivation of MAPKK activity  cellular glucose homeostasis  molecular_function  neuropeptide hormone activity  protein binding  extracellular space  extracellular space  signal transduction  G-protein coupled receptor signaling pathway  neuropeptide signaling pathway  cell-cell signaling  chemical synaptic transmission  adult feeding behavior  cellular response to starvation  cellular response to starvation  secretory granule  negative regulation of appetite  negative regulation of appetite  positive regulation of epinephrine secretion  circadian regulation of gene expression  negative regulation of osteoclast differentiation  positive regulation of blood pressure  negative regulation of bone resorption  regulation of insulin secretion  positive regulation of transmission of nerve impulse  negative regulation of glucagon secretion  somatostatin secretion  
NDEx NetworkCARTPT
Atlas of Cancer Signalling NetworkCARTPT
Wikipedia pathwaysCARTPT
Orthology - Evolution
OrthoDB9607
GeneTree (enSembl)ENSG00000164326
Phylogenetic Trees/Animal Genes : TreeFamCARTPT
HOVERGENQ16568
HOGENOMQ16568
Homologs : HomoloGeneCARTPT
Homology/Alignments : Family Browser (UCSC)CARTPT
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCARTPT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CARTPT
dbVarCARTPT
ClinVarCARTPT
1000_GenomesCARTPT 
Exome Variant ServerCARTPT
ExAC (Exome Aggregation Consortium)ENSG00000164326
GNOMAD BrowserENSG00000164326
Genetic variants : HAPMAP9607
Genomic Variants (DGV)CARTPT [DGVbeta]
DECIPHERCARTPT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCARTPT 
Mutations
ICGC Data PortalCARTPT 
TCGA Data PortalCARTPT 
Broad Tumor PortalCARTPT
OASIS PortalCARTPT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCARTPT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCARTPT
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CARTPT
DgiDB (Drug Gene Interaction Database)CARTPT
DoCM (Curated mutations)CARTPT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CARTPT (select a term)
intoGenCARTPT
NCG5 (London)CARTPT
Cancer3DCARTPT(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601665    602606   
Orphanet
MedgenCARTPT
Genetic Testing Registry CARTPT
NextProtQ16568 [Medical]
TSGene9607
GENETestsCARTPT
Target ValidationCARTPT
Huge Navigator CARTPT [HugePedia]
snp3D : Map Gene to Disease9607
BioCentury BCIQCARTPT
ClinGenCARTPT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9607
Chemical/Pharm GKB GenePA162381084
Clinical trialCARTPT
Miscellaneous
canSAR (ICR)CARTPT (select the gene name)
Probes
Litterature
PubMed69 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCARTPT
EVEXCARTPT
GoPubMedCARTPT
iHOPCARTPT
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Oct 12 16:17:55 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.