Details for: BRAF

Gene ID: 673

Symbol: BRAF

Ensembl ID: ENSG00000157764

Description: B-Raf proto-oncogene, serine/threonine kinase

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: 513.1626
    Cell Significance Index: -79.8200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 309.0560
    Cell Significance Index: -78.3900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 169.2675
    Cell Significance Index: -79.9200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 156.9203
    Cell Significance Index: -63.7500
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 155.5295
    Cell Significance Index: -64.0700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 144.9303
    Cell Significance Index: -74.5500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 66.9185
    Cell Significance Index: -63.8900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 65.5255
    Cell Significance Index: -80.7900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 27.5752
    Cell Significance Index: -73.8700
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 23.9626
    Cell Significance Index: -73.6000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 20.9222
    Cell Significance Index: -45.7900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 20.6308
    Cell Significance Index: -81.4100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 4.6482
    Cell Significance Index: 260.8400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 3.0298
    Cell Significance Index: 601.2700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.9927
    Cell Significance Index: 1073.4300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 2.9444
    Cell Significance Index: 225.9500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.8423
    Cell Significance Index: 570.1600
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 2.6857
    Cell Significance Index: 23.8400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 2.4377
    Cell Significance Index: 149.8300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 2.3738
    Cell Significance Index: 56.9300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 2.3529
    Cell Significance Index: 104.0800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 2.3381
    Cell Significance Index: 60.1000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 2.2787
    Cell Significance Index: 86.2900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 2.2024
    Cell Significance Index: 148.0900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 2.1672
    Cell Significance Index: 1498.9400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 2.1074
    Cell Significance Index: 41.1300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 2.0021
    Cell Significance Index: 233.3200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 1.8854
    Cell Significance Index: 32.3100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.4882
    Cell Significance Index: 41.5900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.4027
    Cell Significance Index: 40.0300
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.3569
    Cell Significance Index: 29.0100
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.1202
    Cell Significance Index: 7.5900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.0691
    Cell Significance Index: 192.7200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.7615
    Cell Significance Index: 10.3900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.7232
    Cell Significance Index: 6.6600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.6709
    Cell Significance Index: 82.4900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.6338
    Cell Significance Index: 1193.3100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.6213
    Cell Significance Index: 394.5800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6179
    Cell Significance Index: 67.2100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5170
    Cell Significance Index: 26.8600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4802
    Cell Significance Index: 13.8400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4385
    Cell Significance Index: 9.5000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.3487
    Cell Significance Index: 158.2500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.2577
    Cell Significance Index: 396.7500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.2421
    Cell Significance Index: 446.4300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2245
    Cell Significance Index: 99.2700
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.1258
    Cell Significance Index: 1.8100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.1250
    Cell Significance Index: 169.9500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1101
    Cell Significance Index: 4.9900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0908
    Cell Significance Index: 49.5800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0525
    Cell Significance Index: 1.1500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0330
    Cell Significance Index: 29.7900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0026
    Cell Significance Index: 0.0700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0015
    Cell Significance Index: -0.0900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.0285
    Cell Significance Index: -2.8200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.0331
    Cell Significance Index: -5.3800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0332
    Cell Significance Index: -4.8300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0334
    Cell Significance Index: -1.5700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0443
    Cell Significance Index: -6.0900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0524
    Cell Significance Index: -38.4000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0650
    Cell Significance Index: -48.1600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0689
    Cell Significance Index: -4.3500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0968
    Cell Significance Index: -73.2800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1291
    Cell Significance Index: -72.7800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1374
    Cell Significance Index: -23.4700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.1428
    Cell Significance Index: -89.2000
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.1497
    Cell Significance Index: -2.1500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.1555
    Cell Significance Index: -29.6000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2025
    Cell Significance Index: -15.0900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2160
    Cell Significance Index: -25.4700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.2464
    Cell Significance Index: -70.8900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2504
    Cell Significance Index: -32.3500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.2959
    Cell Significance Index: -37.9300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3627
    Cell Significance Index: -37.7700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.4021
    Cell Significance Index: -84.6900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.4086
    Cell Significance Index: -28.2600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.4117
    Cell Significance Index: -42.0600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.4858
    Cell Significance Index: -22.6500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.5008
    Cell Significance Index: -57.3800
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.5155
    Cell Significance Index: -7.6100
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.5280
    Cell Significance Index: -3.1900
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.5435
    Cell Significance Index: -13.2600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.5564
    Cell Significance Index: -19.5500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.6459
    Cell Significance Index: -45.6800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.7248
    Cell Significance Index: -19.4200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.8055
    Cell Significance Index: -16.7100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.8619
    Cell Significance Index: -68.2600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.8648
    Cell Significance Index: -23.5400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.8660
    Cell Significance Index: -24.8300
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.8957
    Cell Significance Index: -9.3300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.9092
    Cell Significance Index: -47.3600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.9429
    Cell Significance Index: -30.2000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.9742
    Cell Significance Index: -51.1500
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: -0.9790
    Cell Significance Index: -6.0400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -1.0792
    Cell Significance Index: -21.3400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.1114
    Cell Significance Index: -68.1400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -1.1668
    Cell Significance Index: -37.1600
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -1.1684
    Cell Significance Index: -14.5700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -1.1741
    Cell Significance Index: -38.4400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -1.2591
    Cell Significance Index: -26.8200

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** * The BRAF gene is a proto-oncogene, which means it has the potential to become oncogenic (cancer-causing) due to mutations or other alterations. * The BRAF protein is a serine/threonine kinase that phosphorylates and activates downstream targets. * BRAF is involved in the MAPK/ERK signaling pathway, which is a key regulator of cell proliferation and survival. * BRAF is activated by various stimuli, including growth factors, and can be phosphorylated by various kinases, including RAF kinases and MAPK kinases. * BRAF has multiple splice variants, which can affect its function and expression levels. **Pathways and Functions** * The BRAF gene is involved in the MAPK/ERK signaling pathway, which is a key regulator of cell proliferation and survival. * BRAF is activated by various stimuli, including growth factors, and phosphorylates and activates downstream targets, including ERK1/2. * BRAF is also involved in the regulation of cell differentiation and apoptosis, and can phosphorylate and activate downstream targets involved in these processes. * BRAF has been implicated in the regulation of various cellular processes, including cell growth, differentiation, and survival, and has been shown to be involved in the development and progression of several types of cancer. **Clinical Significance** * Mutations in the BRAF gene have been implicated in several types of cancer, most notably melanoma. * BRAF mutations are present in approximately 50% of melanoma cases, and are associated with a worse prognosis and reduced response to therapy. * BRAF mutations have also been implicated in other types of cancer, including colorectal, thyroid, and pancreatic cancer. * BRAF inhibitors, such as vemurafenib and dabrafenib, have been approved for the treatment of BRAF-mutant melanoma and are being investigated in other types of cancer. * BRAF mutations can also be used as a biomarker for cancer diagnosis and prognosis, and can be used to guide treatment decisions. In conclusion, the BRAF gene is a critical regulator of cell growth, differentiation, and survival, and mutations in the BRAF gene have been implicated in several types of cancer. Further research is needed to fully understand the role of BRAF in cancer and to develop effective therapies for BRAF-mutant cancers.

Genular Protein ID: 1605451111

Symbol: BRAF_HUMAN

Name: Proto-oncogene B-Raf

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1508179

Title: 95-kilodalton B-Raf serine/threonine kinase: identification of the protein and its major autophosphorylation site.

PubMed ID: 1508179

DOI: 10.1128/mcb.12.9.3733-3742.1992

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

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: 1630826

Title: Chromosomal assignment of two human B-raf(Rmil) proto-oncogene loci: B-raf-1 encoding the p94Braf/Rmil and B-raf-2, a processed pseudogene.

PubMed ID: 1630826

PubMed ID: 2284096

Title: Complete coding sequence of a human B-raf cDNA and detection of B-raf protein kinase with isozyme specific antibodies.

PubMed ID: 2284096

PubMed ID: 18974108

Title: Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas.

PubMed ID: 18974108

DOI: 10.1158/0008-5472.can-08-2097

PubMed ID: 3043188

Title: B-raf, a new member of the raf family, is activated by DNA rearrangement.

PubMed ID: 3043188

DOI: 10.1128/mcb.8.6.2651-2654.1988

PubMed ID: 11410590

Title: Serum- and glucocorticoid-inducible kinase SGK phosphorylates and negatively regulates B-Raf.

PubMed ID: 11410590

DOI: 10.1074/jbc.m102808200

PubMed ID: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

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: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19710016

Title: Diacylglycerol kinase eta augments C-Raf activity and B-Raf/C-Raf heterodimerization.

PubMed ID: 19710016

DOI: 10.1074/jbc.m109.043604

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 21102438

Title: AKAP-Lbc enhances cyclic AMP control of the ERK1/2 cascade.

PubMed ID: 21102438

DOI: 10.1038/ncb2130

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21441910

Title: A Raf-induced allosteric transition of KSR stimulates phosphorylation of MEK.

PubMed ID: 21441910

DOI: 10.1038/nature09860

PubMed ID: 21917714

Title: Protein arginine methyltransferase 5 regulates ERK1/2 signal transduction amplitude and cell fate through CRAF.

PubMed ID: 21917714

DOI: 10.1126/scisignal.2001936

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22628551

Title: Ring finger protein 149 is an E3 ubiquitin ligase active on wild-type v-Raf murine sarcoma viral oncogene homolog B1 (BRAF).

PubMed ID: 22628551

DOI: 10.1074/jbc.m111.319822

PubMed ID: 23186163

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

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 23907581

Title: Lys63-linked polyubiquitination of BRAF at lysine 578 is required for BRAF-mediated signaling.

PubMed ID: 23907581

DOI: 10.1038/srep02344

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 27353360

Title: The FNIP co-chaperones decelerate the Hsp90 chaperone cycle and enhance drug binding.

PubMed ID: 27353360

DOI: 10.1038/ncomms12037

PubMed ID: 31024343

Title: A YWHAZ variant associated with cardiofaciocutaneous syndrome activates the RAF-ERK pathway.

PubMed ID: 31024343

DOI: 10.3389/fphys.2019.00388

PubMed ID: 36402789

Title: BRAF activation by metabolic stress promotes glycolysis sensitizing NRASQ61-mutated melanomas to targeted therapy.

PubMed ID: 36402789

DOI: 10.1038/s41467-022-34907-0

PubMed ID: 18287029

Title: Discovery of a selective inhibitor of oncogenic B-Raf kinase with potent antimelanoma activity.

PubMed ID: 18287029

DOI: 10.1073/pnas.0711741105

PubMed ID: 29433126

Title: MEK drives BRAF activation through allosteric control of KSR proteins.

PubMed ID: 29433126

DOI: 10.1038/nature25478

PubMed ID: 12460919

Title: Missense mutations of the BRAF gene in human lung adenocarcinoma.

PubMed ID: 12460919

PubMed ID: 12068308

Title: Mutations of the BRAF gene in human cancer.

PubMed ID: 12068308

DOI: 10.1038/nature00766

PubMed ID: 12198537

Title: Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status.

PubMed ID: 12198537

DOI: 10.1038/418934a

PubMed ID: 14612909

Title: BRAF mutations in non-Hodgkin's lymphoma.

PubMed ID: 14612909

DOI: 10.1038/sj.bjc.6601371

PubMed ID: 14500344

Title: Suppression of BRAF(V599E) in human melanoma abrogates transformation.

PubMed ID: 14500344

PubMed ID: 16474404

Title: Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

PubMed ID: 16474404

DOI: 10.1038/ng1749

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 16439621

Title: Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

PubMed ID: 16439621

DOI: 10.1126/science.1124642

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

PubMed ID: 18042262

Title: Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

PubMed ID: 18042262

DOI: 10.1111/j.1399-0004.2007.00931.x

PubMed ID: 19206169

Title: Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

PubMed ID: 19206169

DOI: 10.1002/humu.20955

PubMed ID: 23263490

Title: Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

PubMed ID: 23263490

DOI: 10.1038/ng.2503

PubMed ID: 24455489

Title: Evidence that GRIN2A mutations in melanoma correlate with decreased survival.

PubMed ID: 24455489

DOI: 10.3389/fonc.2013.00333

Sequence Information:

  • Length: 766
  • Mass: 84437
  • Checksum: 0798C2AAB487E813
  • Sequence:
  • MAALSGGGGG GAEPGQALFN GDMEPEAGAG AGAAASSAAD PAIPEEVWNI KQMIKLTQEH 
    IEALLDKFGG EHNPPSIYLE AYEEYTSKLD ALQQREQQLL ESLGNGTDFS VSSSASMDTV 
    TSSSSSSLSV LPSSLSVFQN PTDVARSNPK SPQKPIVRVF LPNKQRTVVP ARCGVTVRDS 
    LKKALMMRGL IPECCAVYRI QDGEKKPIGW DTDISWLTGE ELHVEVLENV PLTTHNFVRK 
    TFFTLAFCDF CRKLLFQGFR CQTCGYKFHQ RCSTEVPLMC VNYDQLDLLF VSKFFEHHPI 
    PQEEASLAET ALTSGSSPSA PASDSIGPQI LTSPSPSKSI PIPQPFRPAD EDHRNQFGQR 
    DRSSSAPNVH INTIEPVNID DLIRDQGFRG DGGSTTGLSA TPPASLPGSL TNVKALQKSP 
    GPQRERKSSS SSEDRNRMKT LGRRDSSDDW EIPDGQITVG QRIGSGSFGT VYKGKWHGDV 
    AVKMLNVTAP TPQQLQAFKN EVGVLRKTRH VNILLFMGYS TKPQLAIVTQ WCEGSSLYHH 
    LHIIETKFEM IKLIDIARQT AQGMDYLHAK SIIHRDLKSN NIFLHEDLTV KIGDFGLATV 
    KSRWSGSHQF EQLSGSILWM APEVIRMQDK NPYSFQSDVY AFGIVLYELM TGQLPYSNIN 
    NRDQIIFMVG RGYLSPDLSK VRSNCPKAMK RLMAECLKKK RDERPLFPQI LASIELLARS 
    LPKIHRSASE PSLNRAGFQT EDFSLYACAS PKTPIQAGGY GAFPVH

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.