This help document answers the following questions about the Gene Detail Report.
The title of this report describes the marker and genomic feature type returned as a result of your query. The title may identify a gene, segment, pseudogene, marker, BAC/YAC end, complex/cluster/region, or some other genome feature including "Miscellaneous Genome Feature Detail."
Depending on data availability and the marker type, this detail report contains information in some or all of the categories described in the table below. Some sections of the Detail Page initially display only a summary. Use to expand the section to see more information and to collapse the view. Sections will be absent when we have no data of of that type.
||Official gene symbol for the mouse genetic marker. A symbol may be a gene, DNA segment, QTL, cytogenetic marker, pseudogene, BAC/YAC end, complex/cluster/region, or one of the other genome features including endogenous viruses, retrotransposons, integration sites, and repetitive elements. An additional class of such features includes genomic segments that function or are biologically significant as DNA elements.
||The name for this marker appears beneath the symbol.
||Names or symbols for a given marker that may appear in the literature but which are not approved names or symbols.
||Genetic feature type(s) annotated to the marker (e.g, snoRNA gene, rRNA gene and so on). See Genome Feature Type Definitions for a complete list of Feature Types used in MGI and their definitions.
- When different annotation groups disagree as to the marker type (e.g., protein coding versus pseudogene), click Biotype Conflict to see details about the conflict.
- Identifiers in the Gene ID column link to the database source of the annotation (i.e., VEGA, Ensembl, NCBI).
- When a marker is strain specific and strain data is known, click Strain-Specific Marker for details such as the presence/absence of this gene in a given strain or notes about this genomic region appear.
- If there are strain-specific references, they appear at the bottom of this box, linked to the MGI Reference Detail Page.
||The MGI accession identifier and NCBI Gene ID, if available.
||The MyGene.info project organizes Wikipedia pages for human genes and we link to these pages only for genes that have a one-to-one mouse/human orthology relationship.
|For complex/cluster/region feature types, this section may provide links to up to three of the cluster member detail pages, along with a link to a list of all the cluster members. A pop-up window generated by selecting the link offers the option of getting "More data for these features" by forwarding the list to the MGI Batch Query. For markers that are members of a cluster, a link is provided to the cluster detail page. MGI defines a cluster as a group of closely linked genes that are related by evolution or function.|
|Location & Maps
||Appears if coordinates are assigned and includes:
- Genome coordinate range and strand, in base pairs (provider of genomic coordinates is indicated)
- A thumbnail image link to the MGI Mouse Genome Browser display for the marker's coordinates. You can also click MGI Mouse Genome Browser for a full-page display.
Note: If the information you expect to see does not appear in the Mouse Genome Browser (or other browser) display, you may need to turn on (i.e., click) the viewing aides (i.e., tracks, features, maps) in the various displays.
- a Get FASTA button will download the genomic sequence based on the coordinates in the current build, GRCm38. You can also add an equal amount of flanking sequence to each end.
- External links to other genomic context displays (e.g., VEGA ContigView, Ensembl ContigView, UCSC Browser, NCBI Map Viewer)
||As much as is known for this marker of the following:
- Chromosome to which the marker is assigned. Aside from a chromosome number, other possible values include MT (mitochondrial), XY (XY pseudoautosomal), UN (chromosome assignment is not known).
- Marker's centimorgan position. Centimorgan positions for genes and markers in MGI are based on linear interpolation using the standard genetic map described in Cox et al. (2009) (PMID). Markers without genome coordinates cannot be assigned specific cM locations and are designated as syntenic.
- Cytogenetic position
- Links to cytogenetic Mapping Data.
||The human symbol and name and the source of the homology assertion|
||Names or symbols for a given human marker that may appear in the literature but which are not approved names or symbols|
||Links to human gene information at HGNC (Hugo Gene Nomenclature Committee), NCBI and to human protein data at neXtProt|
||Human chromosome, cytogenetic band position, genome coordinate range in base pairs, strand and build number from NCBI.|
- The HomoloGene ID for this genomic feature and a link to the MGI Vertebrate Homology Class page of homology relationships
- A list of species with curated homology relationships and the number of related markers for each species
||A link to the HGNC Comparison of Orthology Predictions (HCOP)|
||A link to this marker's MGI Protein Superfamily Detail page if it can be annotated to a Protein Information Resource SuperFamily (PIRSF) classification name|
||A link to the Gene Tree View at Ensembl (phylogenetic trees of animal genes).|
||Human gene to disease associations are from the NCBI mim2gene_medgen file and include annotations from OMIM, NCBI curation, Gene Reviews, and Gene Tests. Mouse genes are associated with human diseases through mouse genotypes described in publications and annotated to the Disease Ontology (DO), a hierarchical standardized ontology that integrates vocabularies from MeSH, ICD, NCI's thesaurus, SNOMED and OMIM.
- The number of human diseases modeled by mice with mutations in this gene and the total number of human diseases associated with the human gene.
- A table of human diseases associated with the gene. The Human Disease name links to the MGI Disease Ontology Browser record and the IDs link to a popup of of IDs associated with the disease, linked to the appropriate source, when possible. Examples are DO IDs, OMIM IDs, and ICD-9 codes. Mouse and human icons categorize the associated genes by the following conditions:
- The disease is associated with both the mouse and human homologs of the same gene. Mouse genes may appear in this section based on disease models that express homologs of the mouse gene.
- Mouse models involving mutations in the mouse gene or expressing homologs of the mouse gene are associated with this human disease. (OMIM and NCBI data currently do not associate this disease with the homologous human gene.) Click the View link to see a popup summary of those models.
- Mutations in the human gene are associated with this human disease phenotype. MGI may not contain evidence that a mutation in the mouse gene represents a model for this disease, if the mouse gene is homologous to a human gene associated with a disease, it is listed as a disease homolog.
- The total number of Mutations/alleles of the gene with disease annotations linked to a summary of the alleles of the gene with disease model annotations
- The number of References with disease annotations for the gene, linked to a summary report for those references.
|Mutations, Alleles, And Phenotypes
||Depending on availability, the display includes some or all of the following links or information. The numbers indicate how many items in each linked report.
- A Phenotype Summary of all alleles and annotations and counts of phenotypic allele categories of mutant alleles
- Phenotype Images: links to the Phenotype Images associated with this Gene report with every phenotype image in MGI for the gene.
- Phenotype References: links to a summary listing of all the references curated to alleles of the gene.
- A Phenotype Overview displays the highest-level terms from the Mammalian Phenotype (MP) Ontology and uses blue cells to mark those with phenotypic annotations to genotypes with alleles of the gene. Some high-level terms such as normal phenotype, other phenotype, and no phenotypic analysis aren't represented in this Overview but annotations to those terms and their subterms will be displayed in the Phenotype Summaries and Allele Detail pages. Click on a blue cell to see the genotypes annotated to the term and the corresponding lower-level terms. You can find even more detail by then clicking on a genotype's blue cell. This will show curator notes and the appropriate reference. Darker blue cells on the genotype grid indicate more supporting evidence.
- Counts of All mutations and alleles and phenotypic allele categories of mutant alleles. See Selecting Phenotypic Allele Categories for definitions of allele types.
- Incidental mutations with links to data from the mutagenesis projects. Incidental mutations have been detected via sequencing but have not yet been confirmed. They may or may not affect the phenotype. Click on one of the project links, such as Mutagenetix or APF (The Australian Phenomic Facility), to access the provider's data. Stocks can be ordered from the providers. See Selecting Phenotypic Allele Categories for a list of mutagenesis projects.
- A short summary of phenotypes observed in mice with mutant alleles of the gene
|Gene Ontology (GO) Classifications
- All GO classifications (# annotations) links to a summary of the nn annotated items found (click here for information about interpreting the fields on this page). You can browse the GO vocabulary from the query results section and locate multiple terms that annotate a gene record.
- GO References: the number of references with functional (GO) annotations for the gene, linked to a summary report for those references.
- A link to any External Resources (for example, FuncBase, a database of functional predictions) for additional information about this gene.
- A graphical representation of GO annotations to select high-level ontology terms. Click on a blue cell to see more specific, lower-level, annotations and supporting references. The three categories of the Gene Ontology describe the Molecular Function, Biological Process, and Cellular Component of the gene product.
||The Gene Expression Database (GXD) logo appears in the left hand column. Click on the logo for more information on GXD and its tools.
Depending on availability, some or all of the following information may appear:
- The Expression Overview provides a high-level summary of expression data associated with the gene. It is displayed when there are detailed data associated with the gene and the grid headers in the database. The grid headers are select EMAPA terms from early development and physiological/organ systems.
- The mouse over for grid cells reports the total number of annotations to that term or its substructures. Click on a grid cell to open a tissue x stage matrix in a new browser window. This matrix will display an overview of all the annotations to that header term and its children.
- Blue cells indicate there is at least one positive, wild type result annotated to the EMAPA header term (or its substructures).
- A gray triangle indicates there are annotations associated with the term or its substructures in the database but that none of these results show expression in wild-type mice. Specifically, the expression level of these results is either absent/not specified/ambiguous and/or the results were derived from mutant specimens. [Note: for in situ reporter (knock in) assays, heterozygotic specimens carrying the reporter allele are considered wild type.]
- White cells indicate no annotations of any kind to that header or its substructures.
- Note: Note: There are some genes with detailed expression results which do not have an expression overview grid. This is because none of its expression annotations use terms that are among the headers or their substructures. This happens most frequently when few details are provided about the tissue analyzed and the curators use the highest level terms in EMAPA (embryo or mouse) for the annotations.
- Data Summaries - each number links to a summary report:
- All Results - expression results; links to details
- Tissues - anatomical structures where expression was analyzed; summary report details whether or not expression was detected
- cDNA data - the number of cDNA clones for this marker, linked to summary report that includes source data for those clones
- Literature Summary - number of references analyzing expression for this gene, linked to reference details and a table of the ages and assay types analyzed
- Images - images associated with results; summary report displays thumbnails of any associated figures; links to full-size images
- Tissue x Stage Matrix - displays a grid with a spatio-temporal overview of the expression pattern of this gene.
- Other Mouse links: links to expression information for this marker in other databases: Allen Brain Atlas, GENSAT, gene microarray profile pages at GEO, and Expression Atlas at ArrayExpress.
- Other Vertebrate links: links to expression information for chicken homologs at GEISHA, frog homologs at Xenbase, and zebrafish homologs at ZFIN.
||The total number of markers with which the gene is known or suspected of interacting, along with links to up to three of those markers' detail pages and a link to View All the markers. See Interpreting Interaction Explorer Results for more information on MGI interaction data.|
|Sequences & Gene Models
- Link to the Mouse Sequence Summary Report for All sequences for your marker. This link appears if there is at least one sequence associated with a marker.
- If a marker is associated with RefSeq and/or UniProt sequences, the numbers of such associations appear, linked to separate Mouse Sequence Summary Reports for all sequences of those types.
- Links to CCDS and UniGene
- Links to Gene Models at VEGA, Ensembl and NCBI
- Additionally, there may be links to the sequence evidence underlying gene predictions provided by NCBI, Ensembl, and VEGA.
||Representative genomic (from the genome assembly), transcript, and polypeptide sequences for your marker and:
- the sequence ID (e.g., OTTMUSG00000009932)
- a link to the sequence provider (e.g., VEGA Gene Model)
- a link to the MGI Sequence Detail page
- Length: the sequence length
- Strain/Species: the sequence strain (or species, if other than laboratory mouse)
- Flank: If the marker has genome coordinates, you can add an equal amount of flanking sequence to either end when forwarding to NCBI BLAST.
|For the selected sequence
- download it in FASTA format
- forward it to NCBI BLAST
- enter an amount of flanking sequence (if the marker has genome coordinates) and then download or forward to NCBI BLAST.
- select the representative sequence you want to download or forward OR click the number for All Sequences and make your choices there.
Note on representative sequence display:
MGI Representative Sequences provide users quick access to a single genomic, transcript and polypeptide sequence (where available) for the featured gene. To view all sequences for the gene, follow the All sequences link.
||Links to the following MGI summary reports:
- Polymorphisms Query Results -- Summary for any RFLPs/PCRs for this marker:
- Mouse SNPs Query Results -- Summary for any SNPs within 2 kb of this marker. Note: If MGI gene and marker genome coordinates are out of sync with the SNP data, within 2 kb of this marker does not appear, and the summary report indicates the discrepancy. See Understanding Mouse SNP Coordinate Discrepancies for details.
- If a marker is associated with UniProt sequences, the numbers of such associations appear, linked to separate Mouse Sequence Summary Reports for all sequences of that type.
- Links to Protein Ontology for those genes with mappings to PRO IDs
- EC (Enzyme Commission) ID
- List of InterPro domain IDs & descriptions for protein sequences encoded by the gene. The ID links to the InterPro detail page for the domain at the EBI.
||Links to summary pages of MGI molecular reagent information for the marker grouped by All nucleic, Genomic, cDNA, Primer pair, Other (i.e., other nucleic acid probes) and Microarray probesets. Note that Genomic, cDNA, Primer pair and Other are subsets of All nucleic. The number indicates the total number of items listed in the summary. If you select:
- All nucleic, Genomic, cDNA, Primer pair, Other: link is to Molecular Probes and Clones Query Results -- Summary.
- Microarray probesets: link is to Microarray Probeset Summary.
|Other Database Links
- List of and links to external resources with database accession IDs associated to this marker, such as miRBase for miRNAs.
|List of any other MGI accession IDs associated with this marker.
||Some or all of the following, depending on availability:
References on the detail and summary pages include a J number (an MGI reference ID) and a short citation, linked to the full citation. Reference summaries provide text export and filtering capabilities.
- All the references for the marker, linked to a listing on the summary report page.
- The Disease, Expression, Gene Ontology and Phenotype annotation references, linked to a summary listing of just those references.
- Details of one selected reference, linked to its detail page.
- Details of the earliest and latest references, linked to their detail pages.
The Your Input Welcome button, located at the top right of your screen, appears as part of the detailed query results. Clicking the button brings up a dialogue box for submitting any updates or corrections to the data you are viewing. Our User Support staff will review your comments and make sure the appropriate changes are made. This provides an easy way to help us keep data current.