Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism

Background People with an autistic spectrum disorder (ASD) display a variety of characteristic behavioral traits, including impaired social interaction, communication difficulties and repetitive behavior. This complex neurodevelopment disorder is known to be associated with a combination of genetic...
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Autor*in:	Patel, Sejal [verfasserIn] Roncaglia, Paola Lovering, Ruth C.

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2015

Schlagwörter:	Gene Ontology Autistic spectrum disorder Synaptogenesis Annotation Neurexin Neuroligin SHANK DLG4 GO

Anmerkung:	© Patel et al. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (

Übergeordnetes Werk:	Enthalten in: BMC bioinformatics - London : BioMed Central, 2000, 16(2015), 1 vom: 06. Juni
Übergeordnetes Werk:	volume:16 ; year:2015 ; number:1 ; day:06 ; month:06

Links:	Volltext

DOI / URN:	10.1186/s12859-015-0622-0

Katalog-ID:	SPR026898136

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allfields	10.1186/s12859-015-0622-0 doi (DE-627)SPR026898136 (SPR)s12859-015-0622-0-e DE-627 ger DE-627 rakwb eng Patel, Sejal verfasserin aut Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Patel et al. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background People with an autistic spectrum disorder (ASD) display a variety of characteristic behavioral traits, including impaired social interaction, communication difficulties and repetitive behavior. This complex neurodevelopment disorder is known to be associated with a combination of genetic and environmental factors. Neurexins and neuroligins play a key role in synaptogenesis and neurexin-neuroligin adhesion is one of several processes that have been implicated in autism spectrum disorders. Results In this report we describe the manual annotation of a selection of gene products known to be associated with autism and/or the neurexin-neuroligin-SHANK complex and demonstrate how a focused annotation approach leads to the creation of more descriptive Gene Ontology (GO) terms, as well as an increase in both the number of gene product annotations and their granularity, thus improving the data available in the GO database. Conclusions The manual annotations we describe will impact on the functional analysis of a variety of future autism-relevant datasets. Comprehensive gene annotation is an essential aspect of genomic and proteomic studies, as the quality of gene annotations incorporated into statistical analysis tools affects the effective interpretation of data obtained through genome wide association studies, next generation sequencing, proteomic and transcriptomic datasets. Gene Ontology (dpeaa)DE-He213 Autistic spectrum disorder (dpeaa)DE-He213 Synaptogenesis (dpeaa)DE-He213 Annotation (dpeaa)DE-He213 Neurexin (dpeaa)DE-He213 Neuroligin (dpeaa)DE-He213 SHANK (dpeaa)DE-He213 DLG4 (dpeaa)DE-He213 GO (dpeaa)DE-He213 Roncaglia, Paola aut Lovering, Ruth C. aut Enthalten in BMC bioinformatics London : BioMed Central, 2000 16(2015), 1 vom: 06. Juni (DE-627)326644814 (DE-600)2041484-5 1471-2105 nnns volume:16 year:2015 number:1 day:06 month:06 https://dx.doi.org/10.1186/s12859-015-0622-0 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2015 1 06 06
spelling	10.1186/s12859-015-0622-0 doi (DE-627)SPR026898136 (SPR)s12859-015-0622-0-e DE-627 ger DE-627 rakwb eng Patel, Sejal verfasserin aut Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Patel et al. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background People with an autistic spectrum disorder (ASD) display a variety of characteristic behavioral traits, including impaired social interaction, communication difficulties and repetitive behavior. This complex neurodevelopment disorder is known to be associated with a combination of genetic and environmental factors. Neurexins and neuroligins play a key role in synaptogenesis and neurexin-neuroligin adhesion is one of several processes that have been implicated in autism spectrum disorders. Results In this report we describe the manual annotation of a selection of gene products known to be associated with autism and/or the neurexin-neuroligin-SHANK complex and demonstrate how a focused annotation approach leads to the creation of more descriptive Gene Ontology (GO) terms, as well as an increase in both the number of gene product annotations and their granularity, thus improving the data available in the GO database. Conclusions The manual annotations we describe will impact on the functional analysis of a variety of future autism-relevant datasets. Comprehensive gene annotation is an essential aspect of genomic and proteomic studies, as the quality of gene annotations incorporated into statistical analysis tools affects the effective interpretation of data obtained through genome wide association studies, next generation sequencing, proteomic and transcriptomic datasets. Gene Ontology (dpeaa)DE-He213 Autistic spectrum disorder (dpeaa)DE-He213 Synaptogenesis (dpeaa)DE-He213 Annotation (dpeaa)DE-He213 Neurexin (dpeaa)DE-He213 Neuroligin (dpeaa)DE-He213 SHANK (dpeaa)DE-He213 DLG4 (dpeaa)DE-He213 GO (dpeaa)DE-He213 Roncaglia, Paola aut Lovering, Ruth C. aut Enthalten in BMC bioinformatics London : BioMed Central, 2000 16(2015), 1 vom: 06. Juni (DE-627)326644814 (DE-600)2041484-5 1471-2105 nnns volume:16 year:2015 number:1 day:06 month:06 https://dx.doi.org/10.1186/s12859-015-0622-0 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2015 1 06 06
allfields_unstemmed	10.1186/s12859-015-0622-0 doi (DE-627)SPR026898136 (SPR)s12859-015-0622-0-e DE-627 ger DE-627 rakwb eng Patel, Sejal verfasserin aut Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Patel et al. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background People with an autistic spectrum disorder (ASD) display a variety of characteristic behavioral traits, including impaired social interaction, communication difficulties and repetitive behavior. This complex neurodevelopment disorder is known to be associated with a combination of genetic and environmental factors. Neurexins and neuroligins play a key role in synaptogenesis and neurexin-neuroligin adhesion is one of several processes that have been implicated in autism spectrum disorders. Results In this report we describe the manual annotation of a selection of gene products known to be associated with autism and/or the neurexin-neuroligin-SHANK complex and demonstrate how a focused annotation approach leads to the creation of more descriptive Gene Ontology (GO) terms, as well as an increase in both the number of gene product annotations and their granularity, thus improving the data available in the GO database. Conclusions The manual annotations we describe will impact on the functional analysis of a variety of future autism-relevant datasets. Comprehensive gene annotation is an essential aspect of genomic and proteomic studies, as the quality of gene annotations incorporated into statistical analysis tools affects the effective interpretation of data obtained through genome wide association studies, next generation sequencing, proteomic and transcriptomic datasets. Gene Ontology (dpeaa)DE-He213 Autistic spectrum disorder (dpeaa)DE-He213 Synaptogenesis (dpeaa)DE-He213 Annotation (dpeaa)DE-He213 Neurexin (dpeaa)DE-He213 Neuroligin (dpeaa)DE-He213 SHANK (dpeaa)DE-He213 DLG4 (dpeaa)DE-He213 GO (dpeaa)DE-He213 Roncaglia, Paola aut Lovering, Ruth C. aut Enthalten in BMC bioinformatics London : BioMed Central, 2000 16(2015), 1 vom: 06. Juni (DE-627)326644814 (DE-600)2041484-5 1471-2105 nnns volume:16 year:2015 number:1 day:06 month:06 https://dx.doi.org/10.1186/s12859-015-0622-0 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2015 1 06 06
allfieldsGer	10.1186/s12859-015-0622-0 doi (DE-627)SPR026898136 (SPR)s12859-015-0622-0-e DE-627 ger DE-627 rakwb eng Patel, Sejal verfasserin aut Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Patel et al. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background People with an autistic spectrum disorder (ASD) display a variety of characteristic behavioral traits, including impaired social interaction, communication difficulties and repetitive behavior. This complex neurodevelopment disorder is known to be associated with a combination of genetic and environmental factors. Neurexins and neuroligins play a key role in synaptogenesis and neurexin-neuroligin adhesion is one of several processes that have been implicated in autism spectrum disorders. Results In this report we describe the manual annotation of a selection of gene products known to be associated with autism and/or the neurexin-neuroligin-SHANK complex and demonstrate how a focused annotation approach leads to the creation of more descriptive Gene Ontology (GO) terms, as well as an increase in both the number of gene product annotations and their granularity, thus improving the data available in the GO database. Conclusions The manual annotations we describe will impact on the functional analysis of a variety of future autism-relevant datasets. Comprehensive gene annotation is an essential aspect of genomic and proteomic studies, as the quality of gene annotations incorporated into statistical analysis tools affects the effective interpretation of data obtained through genome wide association studies, next generation sequencing, proteomic and transcriptomic datasets. Gene Ontology (dpeaa)DE-He213 Autistic spectrum disorder (dpeaa)DE-He213 Synaptogenesis (dpeaa)DE-He213 Annotation (dpeaa)DE-He213 Neurexin (dpeaa)DE-He213 Neuroligin (dpeaa)DE-He213 SHANK (dpeaa)DE-He213 DLG4 (dpeaa)DE-He213 GO (dpeaa)DE-He213 Roncaglia, Paola aut Lovering, Ruth C. aut Enthalten in BMC bioinformatics London : BioMed Central, 2000 16(2015), 1 vom: 06. Juni (DE-627)326644814 (DE-600)2041484-5 1471-2105 nnns volume:16 year:2015 number:1 day:06 month:06 https://dx.doi.org/10.1186/s12859-015-0622-0 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2015 1 06 06
allfieldsSound	10.1186/s12859-015-0622-0 doi (DE-627)SPR026898136 (SPR)s12859-015-0622-0-e DE-627 ger DE-627 rakwb eng Patel, Sejal verfasserin aut Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Patel et al. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background People with an autistic spectrum disorder (ASD) display a variety of characteristic behavioral traits, including impaired social interaction, communication difficulties and repetitive behavior. This complex neurodevelopment disorder is known to be associated with a combination of genetic and environmental factors. Neurexins and neuroligins play a key role in synaptogenesis and neurexin-neuroligin adhesion is one of several processes that have been implicated in autism spectrum disorders. Results In this report we describe the manual annotation of a selection of gene products known to be associated with autism and/or the neurexin-neuroligin-SHANK complex and demonstrate how a focused annotation approach leads to the creation of more descriptive Gene Ontology (GO) terms, as well as an increase in both the number of gene product annotations and their granularity, thus improving the data available in the GO database. Conclusions The manual annotations we describe will impact on the functional analysis of a variety of future autism-relevant datasets. Comprehensive gene annotation is an essential aspect of genomic and proteomic studies, as the quality of gene annotations incorporated into statistical analysis tools affects the effective interpretation of data obtained through genome wide association studies, next generation sequencing, proteomic and transcriptomic datasets. Gene Ontology (dpeaa)DE-He213 Autistic spectrum disorder (dpeaa)DE-He213 Synaptogenesis (dpeaa)DE-He213 Annotation (dpeaa)DE-He213 Neurexin (dpeaa)DE-He213 Neuroligin (dpeaa)DE-He213 SHANK (dpeaa)DE-He213 DLG4 (dpeaa)DE-He213 GO (dpeaa)DE-He213 Roncaglia, Paola aut Lovering, Ruth C. aut Enthalten in BMC bioinformatics London : BioMed Central, 2000 16(2015), 1 vom: 06. Juni (DE-627)326644814 (DE-600)2041484-5 1471-2105 nnns volume:16 year:2015 number:1 day:06 month:06 https://dx.doi.org/10.1186/s12859-015-0622-0 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2015 1 06 06
language	English
source	Enthalten in BMC bioinformatics 16(2015), 1 vom: 06. Juni volume:16 year:2015 number:1 day:06 month:06
sourceStr	Enthalten in BMC bioinformatics 16(2015), 1 vom: 06. Juni volume:16 year:2015 number:1 day:06 month:06
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Gene Ontology Autistic spectrum disorder Synaptogenesis Annotation Neurexin Neuroligin SHANK DLG4 GO
isfreeaccess_bool	true
container_title	BMC bioinformatics
authorswithroles_txt_mv	Patel, Sejal @@aut@@ Roncaglia, Paola @@aut@@ Lovering, Ruth C. @@aut@@
publishDateDaySort_date	2015-06-06T00:00:00Z
hierarchy_top_id	326644814
id	SPR026898136
language_de	englisch
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Results In this report we describe the manual annotation of a selection of gene products known to be associated with autism and/or the neurexin-neuroligin-SHANK complex and demonstrate how a focused annotation approach leads to the creation of more descriptive Gene Ontology (GO) terms, as well as an increase in both the number of gene product annotations and their granularity, thus improving the data available in the GO database. Conclusions The manual annotations we describe will impact on the functional analysis of a variety of future autism-relevant datasets. 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author	Patel, Sejal
spellingShingle	Patel, Sejal misc Gene Ontology misc Autistic spectrum disorder misc Synaptogenesis misc Annotation misc Neurexin misc Neuroligin misc SHANK misc DLG4 misc GO Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism
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topic_title	Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism Gene Ontology (dpeaa)DE-He213 Autistic spectrum disorder (dpeaa)DE-He213 Synaptogenesis (dpeaa)DE-He213 Annotation (dpeaa)DE-He213 Neurexin (dpeaa)DE-He213 Neuroligin (dpeaa)DE-He213 SHANK (dpeaa)DE-He213 DLG4 (dpeaa)DE-He213 GO (dpeaa)DE-He213
topic	misc Gene Ontology misc Autistic spectrum disorder misc Synaptogenesis misc Annotation misc Neurexin misc Neuroligin misc SHANK misc DLG4 misc GO
topic_unstemmed	misc Gene Ontology misc Autistic spectrum disorder misc Synaptogenesis misc Annotation misc Neurexin misc Neuroligin misc SHANK misc DLG4 misc GO
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title	Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism
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title_full	Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism
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title_sort	using gene ontology to describe the role of the neurexin-neuroligin-shank complex in human, mouse and rat and its relevance to autism
title_auth	Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism
abstract	Background People with an autistic spectrum disorder (ASD) display a variety of characteristic behavioral traits, including impaired social interaction, communication difficulties and repetitive behavior. This complex neurodevelopment disorder is known to be associated with a combination of genetic and environmental factors. Neurexins and neuroligins play a key role in synaptogenesis and neurexin-neuroligin adhesion is one of several processes that have been implicated in autism spectrum disorders. Results In this report we describe the manual annotation of a selection of gene products known to be associated with autism and/or the neurexin-neuroligin-SHANK complex and demonstrate how a focused annotation approach leads to the creation of more descriptive Gene Ontology (GO) terms, as well as an increase in both the number of gene product annotations and their granularity, thus improving the data available in the GO database. Conclusions The manual annotations we describe will impact on the functional analysis of a variety of future autism-relevant datasets. Comprehensive gene annotation is an essential aspect of genomic and proteomic studies, as the quality of gene annotations incorporated into statistical analysis tools affects the effective interpretation of data obtained through genome wide association studies, next generation sequencing, proteomic and transcriptomic datasets. © Patel et al. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (
abstractGer	Background People with an autistic spectrum disorder (ASD) display a variety of characteristic behavioral traits, including impaired social interaction, communication difficulties and repetitive behavior. This complex neurodevelopment disorder is known to be associated with a combination of genetic and environmental factors. Neurexins and neuroligins play a key role in synaptogenesis and neurexin-neuroligin adhesion is one of several processes that have been implicated in autism spectrum disorders. Results In this report we describe the manual annotation of a selection of gene products known to be associated with autism and/or the neurexin-neuroligin-SHANK complex and demonstrate how a focused annotation approach leads to the creation of more descriptive Gene Ontology (GO) terms, as well as an increase in both the number of gene product annotations and their granularity, thus improving the data available in the GO database. Conclusions The manual annotations we describe will impact on the functional analysis of a variety of future autism-relevant datasets. Comprehensive gene annotation is an essential aspect of genomic and proteomic studies, as the quality of gene annotations incorporated into statistical analysis tools affects the effective interpretation of data obtained through genome wide association studies, next generation sequencing, proteomic and transcriptomic datasets. © Patel et al. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (
abstract_unstemmed	Background People with an autistic spectrum disorder (ASD) display a variety of characteristic behavioral traits, including impaired social interaction, communication difficulties and repetitive behavior. This complex neurodevelopment disorder is known to be associated with a combination of genetic and environmental factors. Neurexins and neuroligins play a key role in synaptogenesis and neurexin-neuroligin adhesion is one of several processes that have been implicated in autism spectrum disorders. Results In this report we describe the manual annotation of a selection of gene products known to be associated with autism and/or the neurexin-neuroligin-SHANK complex and demonstrate how a focused annotation approach leads to the creation of more descriptive Gene Ontology (GO) terms, as well as an increase in both the number of gene product annotations and their granularity, thus improving the data available in the GO database. Conclusions The manual annotations we describe will impact on the functional analysis of a variety of future autism-relevant datasets. Comprehensive gene annotation is an essential aspect of genomic and proteomic studies, as the quality of gene annotations incorporated into statistical analysis tools affects the effective interpretation of data obtained through genome wide association studies, next generation sequencing, proteomic and transcriptomic datasets. © Patel et al. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (
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title_short	Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism
url	https://dx.doi.org/10.1186/s12859-015-0622-0
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Using Gene Ontology to describe the role of the neurexin-neuroligin-SHANK complex in human, mouse and rat and its relevance to autism

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