phencode.bx.psu.edu
PhenCode: Paving the Path between Phenotype and GenomeConnecting locus-specific mutation databases with the UCSC Genome Browser.
http://phencode.bx.psu.edu/
Connecting locus-specific mutation databases with the UCSC Genome Browser.
http://phencode.bx.psu.edu/
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PhenCode: Paving the Path between Phenotype and Genome | phencode.bx.psu.edu Reviews
https://phencode.bx.psu.edu
Connecting locus-specific mutation databases with the UCSC Genome Browser.
phencode.bx.psu.edu
PhenCode: Example of adding a new data source
http://phencode.bx.psu.edu/examples/exampleSrc/page1.html
PhenCode: Example of adding a new data source. This example demonstrates the steps involved in adding a new data source to the Locus Variants track. Each database has its own unique traits, so the exact steps and challenges met along the way will vary. This example is based on data that already uses HGVS mutation nomenclature. Which makes the task much easier. Lack of an HGVS name is not a show stopper, but does increase the amount of custom coding that must be done to prepare the data for loading.
PhenCode: Links
http://phencode.bx.psu.edu/otherLinks.html
Alzheimer Disease and Frontotemporal Dementia Mutation Database. ALPL gene mutations database. Androgen Receptor Gene Mutations Database. Blood Group Antigen Gene Mutation Database. Osteopetrosis with renal tubular acidosis. Calcium Sensing Receptor Database. Cystic Fibrosis Mutation Database. Autosomal dominant osteopetrosis, type 2. A database of retrotransposon insertion polymorphisms in humans. Hereditary angioedema type III. FHCDB - FHC Mutation Database (no longer online).
PhenCode: Citations
http://phencode.bx.psu.edu/citations.html
Giardine, B. et al. (2007) PhenCode: connecting ENCODE data with mutations and phenotype. Hum Mutat. 28:554-562. Genetic data on PSEN1 and PSEN2: Cruts M, Van Broeckhoven C. Presenilin mutations in Alzheimer's disease. Human Mutation 11: 183-190, 1998 (PubMed ID: 9521418. Genetic data on APP, PSEN1 and PSEN2: Cruts M, Van Broeckhoven C. Molecular genetics of Alzheimer's disease. Annals of Medicine 30: 560-565, 1998 (PubMed ID: 9920359. Blumenfeld OO, Patnaik SK. Allelic genes of blood group antigens:...
PhenCode: Terms and conditions of use
http://phencode.bx.psu.edu/disclaimer.html
PhenCode: Terms and conditions of use. PhenCode is intended for research purposes only. Although the data are freely available to all, users should treat the reported mutations with extreme caution in clinical settings or for any diagnostic or population screening purpose. This information requires expertise to interpret properly; clinical diagnosis and/or treatment recommendations should be made only by medical professionals. This resource and data are provided "as is", "where is" and without any expres...
PhenCode: Introduction
http://phencode.bx.psu.edu/intro.html
PhenCode is implemented as two custom tracks for the Genome Browser, Locus Variants and Swiss-Prot Variants, with a companion resident track containing regulatory annotations from ORegAnno. It is updated regularly from the source LSDBs, who continue to curate their data. Seamless, bi-directional connections between LSDBs and the Genome Browser allow users to explore phenotypes associated with functional elements, and to look for genomic data that could help to explain clinical phenotypes.
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Mooney Lab - MutDB gene browse T1*-TY*
http://www.mutdb.org/genes/browse/letter:T/start:1/end:Z
Click to read more." target=" blank". Click to read more." target=" blank" Mooney Lab Home. Genes T1* - TY*. Trace amine-associated receptor 1 [Homo sapiens]. Trace amine-associated receptor 2 isoform 1. Trace amine-associated receptor 2 isoform 2. Trace amine-associated receptor 5 [Homo sapiens]. Trace amine-associated receptor 6 [Homo sapiens]. Trace amine-associated receptor 8 [Homo sapiens]. Trace amine-associated receptor 9. TGF-beta-activated kinase 1 and MAP3K7-binding pro. Transforming acidic coi...
Mooney Lab - MutDB gene browse K1*-KY*
http://www.mutdb.org/genes/browse/letter:K/start:1/end:Z
Click to read more." target=" blank". Click to read more." target=" blank" Mooney Lab Home. Genes K1* - KY*. KN motif and ankyrin repeat domain-containing prot. KN motif and ankyrin repeat domain-containing prot. KN motif and ankyrin repeat domain-containing prot. KN motif and ankyrin repeat domain-containing prot. KN motif and ankyrin repeat domain-containing prot. KN motif and ankyrin repeat domain-containing prot. KAT8 regulatory NSL complex subunit 1 isoform 2. KAT8 regulatory NSL complex subunit 2.
Mooney Lab - MutDB gene browse S1*-SY*
http://www.mutdb.org/genes/browse/letter:S/start:1/end:Z
Click to read more." target=" blank". Click to read more." target=" blank" Mooney Lab Home. Genes S1* - SY*. Protein S100-A5 [Homo sapiens]. Protein S100-A7-like 2 [Homo sapiens]. S100P-binding protein isoform b [Homo sapiens]. S100P-binding protein isoform a. Protein S100-Z [Homo sapiens]. Sphingosine 1-phosphate receptor 1. Sphingosine 1-phosphate receptor 2 [Homo sapiens]. Sphingosine 1-phosphate receptor 3. Sphingosine 1-phosphate receptor 4 precursor [Homo. Sphingosine 1-phosphate receptor 5.
Mooney Lab - MutDB gene browse C1*-CY*
http://www.mutdb.org/genes/browse/letter:C/start:1/end:Z
Click to read more." target=" blank". Click to read more." target=" blank" Mooney Lab Home. Genes C1* - CY*. Uncharacterized protein C10orf105 [Homo sapiens]. Uncharacterized protein C10orf105 [Homo sapiens]. Leucine-rich repeat-containing protein C10orf11 [H. Putative uncharacterized protein C10orf114 [Homo s. Adipose most abundant gene transcript 2 protein [H. Uncharacterized protein C10orf120 [Homo sapiens]. Putative uncharacterized protein C10orf122 [Homo s. Fucose mutarotase isoform 1 [Homo sapiens].
Mooney Lab - MutDB gene browse R1*-RY*
http://www.mutdb.org/genes/browse/letter:R/start:1/end:Z
Click to read more." target=" blank". Click to read more." target=" blank" Mooney Lab Home. Genes R1* - RY*. R3H and coiled-coil domain-containing protein 1. R3H domain-containing protein 1 [Homo sapiens]. R3H domain-containing protein 2 [Homo sapiens]. R3H domain-containing protein 4 [Homo sapiens]. Peptidase inhibitor R3HDML precursor [Homo sapiens. Ras-related protein Rab-11A isoform 2. Ras-related protein Rab-11A isoform 1 [Homo sapien. Rab11 family-interacting protein 1 isoform 3 [Homo.
Mooney Lab - MutDB gene browse O1*-OY*
http://www.mutdb.org/genes/browse/letter:O/start:1/end:Z
Click to read more." target=" blank". Click to read more." target=" blank" Mooney Lab Home. Genes O1* - OY*. Omega-3 fatty acid receptor 1 isoform GPR120-S. Omega-3 fatty acid receptor 1 isoform GPR120-L. 2'-5'-oligoadenylate synthase 1 isoform 3. 2'-5'-oligoadenylate synthase 1 isoform 2. 2'-5'-oligoadenylate synthase 1 isoform 1. 2'-5'-oligoadenylate synthase 2 isoform 3 [Homo sa. 2'-5'-oligoadenylate synthase 2 isoform 2 [Homo sa. 2'-5'-oligoadenylate synthase 2 isoform 1 [Homo sa. In Silico Functiona...
Mooney Lab - MutDB gene browse G1*-GY*
http://www.mutdb.org/genes/browse/letter:G/start:1/end:Z
Click to read more." target=" blank". Click to read more." target=" blank" Mooney Lab Home. Genes G1* - GY*. G2/M phase-specific E3 ubiquitin-protein ligase. Ras GTPase-activating protein-binding protein 1. Ras GTPase-activating protein-binding protein 1. Glucose-6-phosphatase 2 isoform 2. Glucose-6-phosphatase 2 isoform 1. Glucose-6-phosphatase 3 [Homo sapiens]. Glucose-6-phosphate 1-dehydrogenase isoform a. Glucose-6-phosphate 1-dehydrogenase isoform b. GRB2-associated-binding protein 1 isoform b.
Mooney Lab - MutDB gene browse H1*-HY*
http://www.mutdb.org/genes/browse/letter:H/start:1/end:Z
Click to read more." target=" blank". Click to read more." target=" blank" Mooney Lab Home. Genes H1* - HY*. Histone H1oo [Homo sapiens]. Histone H2A-Bbd type 1 [Homo sapiens]. Histone H2A-Bbd type 2/3. Histone H2A-Bbd type 2/3. Histone H2A.V isoform 1. Histone H2A.V isoform 2. Histone H2A.V isoform 3. Histone H2A.V isoform 4. Histone H2A.V isoform 5. Core histone macro-H2A.1 isoform 2. Core histone macro-H2A.1 isoform 2. Core histone macro-H2A.1 isoform 1. Core histone macro-H2A.1 isoform 3.
CCGB | projects
http://bx.psu.edu/projects
Tasmanian Tiger Sequencing Project. Tools for manipulating biological data, particularly multiple sequence alignments. These are web browser based software tools that CCGB members have developed or contributed to. UCSC Genome Browser Mirror. Local partial mirror of the UCSC Genome Browser. Visualization tools for bacterial genome alignments. Evolutionary test of predicted exons. Genome alignment and annotation database. Metaserver for integrative analysis of genomic data. 124; Privacy and Legal Statements.
Mooney Lab - MutDB gene browse M1*-MY*
http://www.mutdb.org/genes/browse/letter:M/start:1/end:Z
Click to read more." target=" blank". Click to read more." target=" blank" Mooney Lab Home. Genes M1* - MY*. Cation-dependent mannose-6-phosphate receptor isof. Cation-dependent mannose-6-phosphate receptor isof. Metastasis-associated in colon cancer protein 1 [H. Microtubule-actin cross-linking factor 1 isoform a. Microtubule-actin cross-linking factor 1 isoform b. MACRO domain-containing protein 1. MACRO domain-containing protein 2 isoform 2 [Homo. MACRO domain-containing protein 2 isoform 1 [Homo.
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PhenCode: Paving the Path between Phenotype and Genome
PhenCode: Paving the Path between Phenotype and Genome. PhenCode is a collaborative project to better understand the relationship between genotype and phenotype in humans. It connects human phenotype and clinical data in various locus-specific mutation databases. LSDBs) with data on genome sequences, evolutionary history, and function in the UCSC Genome Browser. PhenCode is a collaboration among researchers at Penn State, UC Santa Cruz, and locus experts at other institutions. Terms and conditions of use.
International Association for Phenomenology and the Cognitive Sciences (IAPCS)
International Association for Phenomenology and the Cognitive Sciences (IAPCS). The IAPCS will hold a satellite session. At the 2012 meeting of the Society for Phenomenology and Existential Philosophy ( SPEP. November 1-3. Speakers include Kenneth Aizawa, Patrick Denehy, Rick Anthony Furtak, Hanne Jacobs, and David Haekwon Kim. Recent meetings and workshops include colloquia in Paris, Denver, Copenhagen, London, Louvain, Orlando, and Philadelphia. University of Memphis and University of Hertfordshire).
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More options ▼. Subscribe to my blog. Created: 20/04/2013 at 11:59 AM. Updated: 23/04/2013 at 12:42 PM. The blog's author only accepts comments from Skyrock members. You haven't logged in. Click here to post a comment using your Skyrock username. And a link to your blog, as well as your photo, will be automatically added to your comment. Posted on Sunday, 21 April 2013 at 8:46 AM. Edited on Sunday, 21 April 2013 at 9:57 AM. Nos Objectifs et nos Mots clés. You haven't logged in. You haven't logged in.
