PheGenI: Phenotype-Genotype Integrator - National Center for Biotechnology Information

Association Results	Retrieving...	Searched by gene IDs retrieved from gene search.
Genes	1 - 1 of 1	Searched by gene names and/or gene IDs.
SNPs	Retrieving...	Searched by gene symbols retrieved from gene search.
eQTL Data	Retrieving...	Searched by gene IDs retrieved from gene search.
dbGaP Studies	Retrieving...	Searched by traits retrieved from page 1 of association results.
Genome View	Retrieving...

Enter search criteria using the controls below. Use the label or arrow on the left to hide / show any section. Small arrows at the far right side of each section heading to move the section above or below an adjacent section.

Enter the name of any trait or disease and a window will appear with a list of suggestions. Currently, phenotypes are matched to exact MeSH terms; parent, child and synonyms are not indexed. If you wish to narrow your search by category, click on the Browse... button. When more than one trait is selected, the search results will include records that match any of the selected traits. You may also limit the P-value for the Association Results and eQTL data to be less than the specified value.

Select broad trait category to limit the items shown in the trait selection.

Select trait for search. Selection of a trait will limit the trait categories shown above.

Data shown are compiled from both NHGRI GWAS Catalog (Source = NHGRI) and from most significant hits across analyses submitted to dbGaP.

Data shown are selected columns matching search criteria, taken directly from NCBI Gene.

Data shown are selected columns matching search criteria, taken directly from Entrez dbSNP.

Data shown are selected columns matching search criteria, taken directly from NCBI’s GTEx database and browser. This database aims to provide a central resource to archive and display associations between genetic variation and high-throughput molecular-level phenotypes. This effort originated with the NIH GTEx roadmap project; however the scope of this resource will be extended to include any available genotype/molecular phenotype datasets.

Data shown are molecular QTL datasets extracted from the NCBI molQTL resource (coming soon) by matching search criteria.

Data shown are selected dbGaP study information related to the trait information in the Association Results. Each study name is hyperlinked to the corresponding dbGaP study page where the user can apply for authorized access to individual-level data.

The ideogram view is shown for all genomic locations specified in the search which span regions with SNP and Gene Results.

The orientation can be selected as vertical, horizontal, or the default can be used.  The default is horizontal if one chromosome is displayed and vertical otherwise.

The user has the option of including SNPs and or Genes in the display.  If the search criteria include a location it can also be displayed.

The 'Display' option is either the current subset of the SNPs and Genes displayed on the page (e.g., 1 - 50 of 75) or those from all Association Results (e.g., all 75) including those that do not appear in the current page of the Association Results table.  Due to the potential volume of data, the latter option is available only if a phenotype trait was selected in the initial search.

Genetic location may be specified in one of three ways:

Location: chromosome and range (position on chromosome)
Range is specified as two numbers in multiple formats by a space, hyphen, or comma. The following examples are equivalent:
1000000:10000000
1M-10M
1000K 10000K
Gene: One or more gene symbols or NCBI Gene IDs separated by spaces, commas, or on separate lines.
SNP: One or more dbSNP rs numbers separated by spaces, commas, or on separate lines. The 'rs' prefix is optional.

You may optionally select one or more SNP functional classes. If none are selected, then all functional classes are included including 'intergenic.'
This entire section is optional if a category and/or trait are selected in the phenotype selection.

Genes

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Symbol

Description

Location

OMIM

PLEC

plectin

: 143,976,745 - 143,915,153

601282

Aliases:

EBS1, EBS5A, EBS5B, EBS5C, EBS5D, EBSMD, EBSND, EBSO, EBSOG, EBSPA, HD1, LGMD2Q, LGMDR17, PCN, PLEC1, PLEC1b, PLTN

Summary:

Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547, 11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as "hemidesmosomal protein 1" or "plectin 1, intermediate filament binding 500kDa". These names were superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5' transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectin's highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5' exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). The short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the other alternative first exons, in which case the position in the respective Reference Sequence should be used. [provided by RefSeq, Aug 2011]

{ "section": "GENE", "summary": "1 - 1 of 1", "retstart": 0, "pageSize": 100, "count": 1, "SEQ": { "chr": [ ["8", 143915153, 143976745] ], "markers": { "8": [ ["PLEC", "NC_000008.11", 143915153, 143976745, "plectin", "EBS1, EBS5A, EBS5B, EBS5C, EBS5D, EBSMD, EBSND, EBSO, EBSOG, EBSPA, HD1, LGMD2Q, LGMDR17, PCN, PLEC1, PLEC1b, PLTN", 5339] ] }, "unmapped": [ ] } }