Summary tables
Subheader / Data table / Page navigation

Note: Some of the data shown on this page has been partially modified for display purposes and should not be considered accurate information.

Element information is displayed in eGenome either as an individual record or as a summary table, depending upon whether one or multiple elements are found in the search. Bundle records have a slightly different format than records for other element types.

An example of a summary table is shown and explained line-by-line below. Summary tables can be divided into three sections. At the top of the page, the page subheader lists general information about the query. Below this, the data table is variable and consists of four subsections, only one of which is displayed in the browser window at a given time. This section displays classes of individual genomic elements matching the query parameters. At the bottom of the page are page navigation controls to allow easy access to additional elements identified with the search parameters.

  Subheader




Query parameters: This displays the search parameters that were used to define the region being specified. In the example above, the region was defined as the cytogenetic band 1p34.1. If a pair of flanking genomic elements were used to assign the region (such as genes POU3F1 and CAST), then these would instead be listed. If a keyword search was performed, the line would list Keyword:CAST (or whatever keyword was used for searching).

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Chromosome assignment(s): This lists the chromosome or chromosomes that the summary table elements have been assigned to.

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Flanking sequence positions: This lists the calculated DNA sequence positions in the DNA sequence assembly (link to DNA sequence assembly definition) for the region queried. The base pair positions are calculated beginning at the pterminus of the chromosome (bp position 1 is the pterminal-most base that has been determined for that chromosome). Sequence positions are rounded to the nearest kilobase and are displayed in megabases.

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Element totals:Lists the total number of elements in each category: RH markers, polymorphisms, SNP's and bundles. Each category name is linked to a definition of the term, and each category corresponds to a data tab displayed in the data section of the summary table record (see below).

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Map of Region button: Clicking on this button generates a graphical view of the region being viewed, in this case 1p34.1. The graphical view is displayed in Chromoscape. Below the Map of Region button is a text box that allows the size of the region a user wishes to display to be defined. The default is to display 10 kilobases on either side of the region currently being viewed.

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  Data table - Markers, Polymorphisms, SNP's, Bundles

The data table consists of the symbols legend and four sections: the Markers section, the Polymorphisms section, the SNP's section and the Bundles section. Each section displays a different subset of information about the genomic elements of interest. Only one section is displayed in the browser window at a given time. The RH markers section is shown by default when the individual record is first displayed. Other sections can be accessed by clicking on the section tabs for polymorphism and bundle that appear directly above the specific element data. To move from one section to another, click on the appropriate tab, as seen here:




The tab for the active (currently viewed) section is colored dark blue, while tabs for other sections containing data are light blue. Sections containing no data have grayed tabs. Each section has a list of one or more elements matching the query parameter, headed by a dark blue stripe that lists the column categories.

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Polymorphism & SNP symbol: This triangle-shaped symbol will appear directly after any element name in the Name column of the summary table that represents both a SNP and a polymorphism somewhere within the sequence that the element spans.

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Contains SNP symbol: This square-shaped symbol will appear directly after any element name in the Name column of the summary table that contains an identified SNP somewhere within the sequence that the element spans. 

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Marker & Polymorphism symbol: This star-shaped symbol will appear directly after any element name in the Name column of the summary table that represents both a marker and a polymorphism somewhere within the sequence that the element spans.

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Bold text: A statement "Bold text - RH/GL framework element" will appear in the symbols legend whenever one or more elements in the summary table are members of the framework maps used to construct the overall RH and genetic linkage maps (click here for details of this process). Any such elements have their entire entries displayed in bold text.

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Help button: This help button links to the summary table help page that you are now viewing.

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Markers tab

The Markers tab lists all DNA markers that have a chromosomal position. These elements are sorted by chromosomal location (p terminus to q terminus), or for keyword searches, by name. For each element, a summary of the chromosomal localization(s) and transcriptional status is listed. Elements with text in bold print indicate that they are on either the RH framework, GL framework, or both.





Name column: Displays the name of each element matching the query parameters. This displays the official element name selected by eGenome. The element name is selected to be most appropriate from all of names and aliases that the eGenome database has identified. Click here for an explanation of how names are selected. The element names are clickable and link to their corresponding individual records. For example, clicking on "D1S2830" in the first entry shown above would give more complete information about that element. In some cases, clicking on the Name leads to a list of multiple elements with that name rather than a single element record. This occurs for elements which have been named identically by multiple groups, but whose sequence positions (i.e. primer pair sequences) have been reported differently. However, elements sharing the same name and same sequence position but which have been independently localized are grouped into a bundle (reflected in the bundle column). Definitions of the symbols following certain element Names can be found here.

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Bundle column: Lists the assigned name of the bundle to which each element has been placed. These names link to the corresponding bundle records.

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Status column: Indicates whether the genomic element represents a sequence feature that generates an RNA transcript. The status options are transcribed, not transcribed, unknown, and transcribed?. Transcribed? indicates that there are multiple elements, likely derived from independent groups, which have identical names and sequence positions but have a conflicting transcriptional status recorded.

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Sequence position column: Lists the position of the genomic element in the public sequence assembly. The numbers indicate the base pair position of the sequence stretch that the element comprises, rounded to the nearest kilobase. If a position could not be determined, the entry reads "Unknown". If there are multiple sequence positions, the entry reads "Multiple", and all of the identified positions can be viewed in the element record(s) by clicking on the element name. More information about why multiple or discrepant sequence positions may occur can be found here. The base pair positions are calculated beginning at the pterminus of the chromosome (bp position 1 is the pterminal-most base that has been determined for that chromosome). These sequence positions have been determined using e-PCR, and a sequence position is reported only if both primer sequences for the genomic element exactly match the genomic sequence with the proper distance and orientation between each primer. See the Methods section for information about how the sequence positions are calculated.

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RH position column: Lists the RH framework position or interval of each element, usually defined by two flanking RH framework markers. If an element is or localizes near a single RH framework marker, only that single framework marker is shown. See the Methods section for information about how the RH positions are calculated. Each framework marker name is linked to the corresponding individual record for that marker.

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Cytolocation column: Lists the cytogenetic band or band range that has been calculated for the given element's cytogenetic position. See the Methods section for information about how the cytolocations are calculated.

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Polymorphisms tab

The Polymorphisms tab lists all elements that are polymorphic in nature, except for SNP's, which are listed in their own tab. Polymorphic elements are sorted by chromosomal location (p terminus to q terminus). For each element, a summary of the chromosomal localization(s) and transcriptional status is listed.  Elements with text in bold print indicate that they are on either the RH framework, GL framework, or both.


Name column: Lists the name of each element matching the query parameters. This displays the official element name selected for display by eGenome. The element name is selected to be most appropriate from all of names and aliases that the eGenome database has identified. Click here for an explanation of how names are selected. The element names are clickable and link to their corresponding individual records. For example, clicking on "D1S2890" in the first entry shown above would give more complete information about that element. In some cases, clicking on the Name leads to a list of multiple elements with that name rather than a single element record. This occurs for elements which have been named identically by multiple groups, but whose sequence positions (i.e. primer pair sequences) have been reported differently. However, elements sharing the same name and same sequence position but which have been independently localized are grouped into a bundle (reflected in the bundle column). Definitions of the symbols following certain element Names can be found here.

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Bundle column: Lists the assigned name of the bundle to which each element has been placed. These names link to the corresponding bundle records.

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Status column: Indicates whether the genomic element represents a sequence feature that generates an RNA transcript. The status options are transcribed, not transcribed, unknown, and transcribed?. Transcribed? indicates that there are multiple elements, likely derived from independent groups, which have identical names and sequence positions but have a conflicting transcriptional status recorded.

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Sequence position column: Lists the position of the genomic element in the public sequence assembly. The numbers indicate the base pair position of the sequence stretch that the element comprises, rounded to the nearest kilobase. If no position could not be determined, the entry reads "Unknown". If there are multiple sequence positions, the entry reads "Multiple", and all of the identified positions can be viewed in the element record(s) by clicking on the element name. More information about why multiple or discrepant sequence positions may occur can be found here. The base pair positions are calculated beginning at the pterminus of the chromosome (bp position 1 is the pterminal-most base that has been determined for that chromosome). These sequence positions have been determined using e-PCR, and a sequence position is reported only if both primer sequences for the genomic element exactly match the genomic sequence with the proper distance and orientation between each primer. See the Methods section for information about how the sequence positions are calculated.

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cM position column: Lists the GL framework position or interval of each element, expressed in terms of centiMorgan distance from the pterminius of the chromosome. If an element is or localizes near a single GL framework marker, only that single framework marker position is shown. See the Methods section for information about how the GL positions are calculated.

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Cytolocation column: Lists the cytogenetic band or band range that has been calculated for the given element's cytogenetic position. See the Methods section for information about how the cytolocations are calculated.

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SNP's tab

The SNP tab lists all elements that have identified variations at a single base pair. Variations involving more than one base pair and those with genetic linkage mapping information, are found in the polymorphisms tab. These elements are sorted by chromosomal location (p terminus to q terminus). For each element, a summary of the chromosomal localization(s) and transcriptional status is listed.






Name column: Displays the name of each SNP matching the query parameters. This displays the official SNP name selected by eGenome, which is the dbSNP rsID identifier. The SNP names are clickable and link to their corresponding individual records. For example, clicking on "rs1910292" in the first entry shown above would give more complete information about that SNP.

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Status column: Indicates whether the genomic element represents a sequence feature that generates an RNA transcript. The status options are transcribed, not transcribed, unknown, and transcribed?. Transcribed? indicates that there are multiple elements, likely derived from independent groups, which have identical names and sequence positions but have a conflicting transcriptional status recorded.

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Sequence position column: Lists the position of the genomic element in the public sequence assembly. The numbers indicate the base pair position of the sequence stretch that the element comprises, rounded to the nearest kilobase. If a position could not be determined, the entry reads "Unknown". If there are multiple sequence positions, the entry reads "Multiple", and all of the identified positions can be viewed in the element record(s) by clicking on the element name. More information about why multiple or discrepant sequence positions may occur can be found here. The base pair positions are calculated beginning at the pterminus of the chromosome (bp position 1 is the pterminal-most base that has been determined for that chromosome). These sequence positions have been determined using e-PCR, and a sequence position is reported only if both primer sequences for the genomic element exactly match the genomic sequence with the proper distance and orientation between each primer. See the Methods section for information about how the sequence positions are calculated.

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Cytolocation column: Lists the cytogenetic band or band range that has been calculated for the given element's cytogenetic position. See the Methods section for information about how the cytolocations are calculated.

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Bundles tab

The Bundles tab lists all elements that have been grouped into bundles and which meet the query parameters. Bundles are groups of elements that share identical molecular definitions (i.e., the same primer sequences) but which have each been individually and independently localized. Bundles are sorted by chromosomal location (p terminus to q terminus). For each element, a summary of the chromosomal localization(s) and transcriptional status is listed. Elements with text in bold print indicate that they are on either the RH framework, GL framework, or both.





Bundle name column: Lists the name of each bundle matching the query parameters. This displays the official bundle name selected for display by eGenome. The bundle name is selected to be the most appropriate from all of names and aliases that the eGenome database has identified. Click here for an explanation of how names are selected. The element names are clickable and link to their corresponding bundle records. For example, clicking on "D1S197" in the first entry shown above would give more complete information about that bundle. Definitions of the symbols following certain element Names can be found here.

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Status column: Indicates whether the bundle represents a sequence feature that generates an RNA transcript. The status options are transcribed, not transcribed, unknown, and transcribed?. Transcribed? indicates that there are multiple elements, likely derived from independent groups, which have identical names and sequence positions but have a conflicting transcriptional status recorded.

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Sequence position column: Lists the calculated max position of the bundle in the public sequence assembly. The numbers indicate the base pair position of the sequence stretch that the element comprises, rounded to the nearest kilobase. If a position could not be determined, the entry reads "Unknown". If there are multiple sequence positions, the entry reads "Multiple", and all of the identified positions can be viewed in the element record(s) by clicking on the element name. More information about why multiple or discrepant sequence positions may occur can be found here. The base pair positions are calculated beginning at the pterminus of the chromosome (bp position 1 is the pterminal-most base that has been determined for that chromosome). These sequence positions have been determined using e-PCR, and a sequence position is reported only if both primer sequences for the genomic element exactly match the genomic sequence with the proper distance and orientation between each primer. See the Methods section for information about how the sequence positions are calculated.

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Cytolocation column: Lists the cytogenetic band or band range that has been calculated for the given bundle's cytogenetic position, which is based upon the calculated max location for the bundle. See the Methods section for more information about how the cytolocations are calculated.

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  Page navigation controls


Summary tables display 25 records (elements or entries) per tab by default. If there are more than 25 records in a category for a particular query, a corresponding number of pages, each with 25 records, is created. The page navigation controls allow users to quickly navigate to other pages and records. Included in the navigation controls are scrolling buttons and displays of the total number of pages and records, along with the subset of records being actively displayed. Scrolling buttons are blue when active and are grayed if they are not applicable for the current display.

Number of records: Indicates the total number of records found by the query.

First button: Clicking on this button displays the first set of 25 records (records 1-25) in the defined set.

Previous button: Clicking on this button displays the previous 25 records in the defined set. For example, if the current display shows records 51-75, clicking the Previous button will display entries 26-50.

Page number: Indicates which page of records is currently being viewed, along with the total number of pages.

All records: Clicking on this text displays all records matching the query. Note that this set may be large and could take considerable time to download and format in particular browser/network configurations.

Next button: Clicking on this button displays the next 25 records in the defined set. For example, if the current display shows records 1-25, clicking the Next button will display records 26-50.

Last button: Clicking on this button displays the last set of up to 25 records in the defined set.

Go to page feature: Entering a page number and pressing the Return key or the GO button will result in a display of the records corresponding to the page number chosen.

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Except as otherwise indicated, Copyright 2005, The Children's Hospital of Philadelphia