IntAct European Bioinformatics Institute IntAct intact http://www.ebi.ac.uk/ http://www.ebi.ac.uk/intact/query/${ac} EBI-[0-9]+|IA:[0-9]+ INTerAction database (IntAct) provides an open source database and toolkit for the storage, presentation and analysis of molecular interactions. http://www.ebi.ac.uk/intact European Bioinformatics Institute; Wellcome Trust Genome Campus; Hinxton, Cambridge; CB10 1SD; United Kingdom http://www.ebi.ac.uk/intact/ http://www.ebi.ac.uk/ werner-2016-1 human-293 Homo sapiens transformed primary embryonal kidney cells Human 293 Transformed human primary embryonal kidney cells. The Cell type named 293 is synonymous with HEK-293. gal4 vp16 complement gal4 vp16 complementation karyoplasmic interaction ion strategy KISS mammalian two hybrid gal4 vp16 complement predetermined predetermined participant predetermined Werner P., Latney B., Deardorff MA., Goldmuntz E. Rare diseases - Interactions investigated in the context of Rare genetic disease Cardiac - Interactions involving cardiac related proteins goldmuntz@email.chop.edu Human mutation 2016 Only protein-protein interactions imex curation imex curation tfe2_human Transcription factor E2-alpha Immunoglobulin enhancer-binding factor E12/E47 Transcription factor 3 Immunoglobulin transcription factor 1 Transcription factor ITF-1 Kappa-E2-binding factor TCF3 E2A ITF1 BHLHB21 Class B basic helix-loop-helix protein 21 protein protein human Homo sapiens Human MNQPQRMAPVGTDKELSDLLDFSMMFPLPVTNGKGRPASLAGAQFGGSGLEDRPSSGSWGSGDQSSSSFDPSRTFSEGTHFTESHSSLSSSTFLGPGLGGKSGERGAYASFGRDAGVGGLTQAGFLSGELALNSPGPLSPSGMKGTSQYYPSYSGSSRRRAADGSLDTQPKKVRKVPPGLPSSVYPPSSGEDYGRDATAYPSAKTPSSTYPAPFYVADGSLHPSAELWSPPGQAGFGPMLGGGSSPLPLPPGSGPVGSSGSSSTFGGLHQHERMGYQLHGAEVNGGLPSASSFSSAPGATYGGVSSHTPPVSGADSLLGSRGTTAGSSGDALGKALASIYSPDHSSNNFSSSPSTPVGSPQGLAGTSQWPRAGAPGALSPSYDGGLHGLQSKIEDHLDEAIHVLRSHAVGTAGDMHTLLPGHGALASGFTGPMSLGGRHAGLVGGSHPEDGLAGSTSLMHNHAALPSQPGTLPDLSRPPDSYSGLGRAGATAAASEIKREEKEDEENTSAADHSEEEKKELKAPRARTSPDEDEDDLLPPEQKAEREKERRVANNARERLRVRDINEAFKELGRMCQLHLNSEKPQTKLLILHQAVSVILNLEQQVRERNLNPKAACLKRREEEKVSGVVGDPQMVLSAPHPGLSEAHNPAGHM mesp1_human Mesoderm posterior protein 1 Class C basic helix-loop-helix protein 5 MESP1 BHLHC5 protein protein human Homo sapiens Human MAQPLCPPLSESWMLSAAWGPTRRPPPSDKDCGRSLVSSPDSWGSTPADSPVASPARPGTLRDPRAPSVGRRGARSSRLGSGQRQSASEREKLRMRTLARALHELRRFLPPSVAPAGQSLTKIETLRLAIRYIGHLSAVLGLSEESLQRRCRQRGDAGSPRGCPLCPDDCPAQMQTRTQAEGQGQGRGLGLVSAVRAGASWGSPPACPGARAAPEPRDPPALFAEAACPEGQAMEPSPPSPLLPGDVLALLETWMPLSPLEWLPEEPK mesp1-tcf3-1 3587272 N/A 3587273 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed living cell living cell N/A 3587274 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed living cell living cell region gal4 dna bd gal4 dna binding domain gal4 dna bd undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined false Q9BRJ9:p.Gly70Asp mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain false Q9BRJ9:p.Pro27_Asp29[2] mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain false Q9BRJ9:p.Lys268Asn mutation with no effect mutation with no effect mutation with no effect mutation not affecting interaction certain certain sequence position certain certain certain sequence position certain false Q9BRJ9:p.Asp168Gly mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain false Q9BRJ9:p.Glu104Lys mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain false Q9BRJ9:p.Leu120Pro mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain false Q9BRJ9:Leu147_Lys268delinsProAlaProValProAlaAlaArg NP_061140.1:p.Leu147Profs*9 mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain false physical association physical association false false false Figure 3