Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000005386 [[48057069, 48057373], [48060762, 48060863], [48061536, 48061634], [48062698, 48062885], [48063889, 48064128], [48073275, 48073377], [48073486, 48073557], [48075478, 48075600], [48080562, 48080690], [48081658, 48081784], [48082907, 48082978], [48084300, 48084422], [48090058, 48090186], [48091379, 48091502], [48095246, 48095387], [48096470, 48096629], [48099734, 48099844]] [[48057287, 48057373], [48060762, 48060863], [48061536, 48061634], [48062698, 48062885], [48063889, 48064128], [48073275, 48073377], [48073486, 48073557], [48075478, 48075600], [48080562, 48080690], [48081658, 48081784], [48082907, 48082978], [48084300, 48084422], [48090058, 48090186], [48091379, 48091502], [48095246, 48095387], [48096470, 48096623]]
ENST00000548211 [[48057072, 48057373], [48058372, 48058626]] None
ENST00000432584 [[48057074, 48057373], [48060762, 48060863], [48061536, 48061634], [48062698, 48062885], [48063889, 48064128], [48073275, 48073377], [48073486, 48073557], [48075478, 48075600], [48080562, 48080690], [48081658, 48081784], [48082907, 48082978], [48084300, 48084422], [48090058, 48090186], [48091379, 48091502], [48095246, 48095387], [48099734, 48099809]] [[48057287, 48057373], [48060762, 48060863], [48061536, 48061634], [48062698, 48062885], [48063889, 48064128], [48073275, 48073377], [48073486, 48073557], [48075478, 48075600], [48080562, 48080690], [48081658, 48081784], [48082907, 48082978], [48084300, 48084422], [48090058, 48090126]]
ENST00000380650 [[48057075, 48057373], [48060762, 48060863], [48061536, 48061634], [48062698, 48062885], [48063889, 48064128], [48073486, 48073557], [48075478, 48075600], [48080562, 48080690], [48081658, 48081784], [48082907, 48082978], [48084300, 48084422], [48090058, 48090186], [48091379, 48091502], [48095246, 48095387], [48096470, 48096629], [48099734, 48099769]] [[48057287, 48057373], [48060762, 48060863], [48061536, 48061634], [48062698, 48062885], [48063889, 48064128], [48073486, 48073557], [48075478, 48075600], [48080562, 48080690], [48081658, 48081784], [48082907, 48082978], [48084300, 48084422], [48090058, 48090186], [48091379, 48091502], [48095246, 48095387], [48096470, 48096623]]
ENST00000548296 [[48089724, 48090186], [48091379, 48091484]] None
ENST00000547706 [[48093797, 48093947], [48095246, 48095387], [48096470, 48096599]] None
ENST00000551293 [[48094973, 48095387], [48096470, 48096629], [48099734, 48099782]] None
NM_024604 [[48055714, 48057373], [48060762, 48060863], [48061536, 48061634], [48062698, 48062885], [48063889, 48064128], [48073275, 48073377], [48073486, 48073557], [48075478, 48075600], [48080562, 48080690], [48081658, 48081784], [48082907, 48082978], [48084300, 48084422], [48090058, 48090186], [48091379, 48091502], [48095246, 48095387], [48096470, 48096629], [48099734, 48099844]] [[48057287, 48057373], [48060762, 48060863], [48061536, 48061634], [48062698, 48062885], [48063889, 48064128], [48073275, 48073377], [48073486, 48073557], [48075478, 48075600], [48080562, 48080690], [48081658, 48081784], [48082907, 48082978], [48084300, 48084422], [48090058, 48090186], [48091379, 48091502], [48095246, 48095387], [48096470, 48096623]]
NM_001146075 [[48055714, 48057373], [48060762, 48060863], [48061536, 48061634], [48062698, 48062885], [48063889, 48064128], [48073486, 48073557], [48075478, 48075600], [48080562, 48080690], [48081658, 48081784], [48082907, 48082978], [48084300, 48084422], [48090058, 48090186], [48091379, 48091502], [48095246, 48095387], [48096470, 48096629], [48099734, 48099844]] [[48057287, 48057373], [48060762, 48060863], [48061536, 48061634], [48062698, 48062885], [48063889, 48064128], [48073486, 48073557], [48075478, 48075600], [48080562, 48080690], [48081658, 48081784], [48082907, 48082978], [48084300, 48084422], [48090058, 48090186], [48091379, 48091502], [48095246, 48095387], [48096470, 48096623]]
NM_001146076 [[48055714, 48057373], [48060762, 48060863], [48061536, 48061634], [48062698, 48062885], [48063889, 48064128], [48073275, 48073377], [48073486, 48073557], [48075478, 48075600], [48080562, 48080690], [48081658, 48081784], [48082907, 48082978], [48084300, 48084422], [48090058, 48090186], [48091379, 48091502], [48095246, 48095387], [48099734, 48099844]] [[48057287, 48057373], [48060762, 48060863], [48061536, 48061634], [48062698, 48062885], [48063889, 48064128], [48073275, 48073377], [48073486, 48073557], [48075478, 48075600], [48080562, 48080690], [48081658, 48081784], [48082907, 48082978], [48084300, 48084422], [48090058, 48090126]]
Promoter
Chrom Start End Description
chr12 48099754 48099765 CAGE_peak_2_at_RPAP3_5end
chr12 48099773 48099825 CAGE_peak_1_at_RPAP3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I047772 47772743 47778247 2.24 [{'connected_gene': 'SLC48A1', 'score': 562.28}, {'connected_gene': 'RPAP3', 'score': 11.9}, {'connected_gene': 'ENDOU', 'score': 11.58}, {'connected_gene': 'KANSL2', 'score': 11.02}, {'connected_gene': 'SENP1', 'score': 10.15}, {'connected_gene': 'ENSG00000205537', 'score': 10.08}, {'connected_gene': 'ENSG00000268069', 'score': 8.75}, {'connected_gene': 'RAPGEF3', 'score': 5.13}, {'connected_gene': 'GC12M047752', 'score': 0.44}]
chr12 GH12I047780 47778294 47778435 0.38 [{'connected_gene': 'SLC48A1', 'score': 12.28}, {'connected_gene': 'RPAP3', 'score': 11.89}, {'connected_gene': 'ENDOU', 'score': 11.56}, {'connected_gene': 'ENSG00000205537', 'score': 10.09}, {'connected_gene': 'GC12M047752', 'score': 0.77}, {'connected_gene': 'RAPGEF3', 'score': 0.44}]
chr12 GH12I047778 47778918 47778967 0.51 [{'connected_gene': 'SLC48A1', 'score': 12.25}, {'connected_gene': 'RPAP3', 'score': 11.89}, {'connected_gene': 'ENDOU', 'score': 11.56}, {'connected_gene': 'ENSG00000205537', 'score': 10.09}, {'connected_gene': 'GC12M047752', 'score': 0.77}, {'connected_gene': 'RAPGEF3', 'score': 0.44}]
chr12 GH12I047779 47779000 47780268 1.25 [{'connected_gene': 'SLC48A1', 'score': 17.55}, {'connected_gene': 'RPAP3', 'score': 11.89}, {'connected_gene': 'ENDOU', 'score': 11.56}, {'connected_gene': 'LOC102725258', 'score': 11.19}, {'connected_gene': 'ENSG00000205537', 'score': 10.09}, {'connected_gene': 'ENSG00000268069', 'score': 9.99}, {'connected_gene': 'GC12M047752', 'score': 0.77}, {'connected_gene': 'RAPGEF3', 'score': 0.44}]
chr12 GH12I047716 47716647 47719022 1.26 [{'connected_gene': 'SLC48A1', 'score': 12.58}, {'connected_gene': 'RAPGEF3', 'score': 12.53}, {'connected_gene': 'LOC102725258', 'score': 11.97}, {'connected_gene': 'HDAC7', 'score': 11.71}, {'connected_gene': 'KANSL2', 'score': 10.29}, {'connected_gene': 'ENSG00000257433', 'score': 9.81}, {'connected_gene': 'TMEM106C', 'score': 9.57}, {'connected_gene': 'RPAP3', 'score': 4.9}, {'connected_gene': 'ENDOU', 'score': 0.44}, {'connected_gene': 'LOC105369748', 'score': 0.39}]
chr12 GH12I048681 48681000 48683200 2.08 [{'connected_gene': 'KANSL2', 'score': 626.07}, {'connected_gene': 'SENP1', 'score': 52.44}, {'connected_gene': 'CCNT1', 'score': 52.23}, {'connected_gene': 'DDX23', 'score': 43.45}, {'connected_gene': 'KMT2D', 'score': 36.83}, {'connected_gene': 'RPAP3', 'score': 36.53}, {'connected_gene': 'LMBR1L', 'score': 22.92}, {'connected_gene': 'ENSG00000257964', 'score': 21.43}, {'connected_gene': 'PRPF40B', 'score': 21.38}, {'connected_gene': 'LOC390314', 'score': 21.38}, {'connected_gene': 'FAM186B', 'score': 17.48}, {'connected_gene': 'LOC100422296', 'score': 12.76}, {'connected_gene': 'HDAC7', 'score': 9.99}, {'connected_gene': 'ADCY6', 'score': 9.87}, {'connected_gene': 'LOC102725258', 'score': 9.68}, {'connected_gene': 'GC12M048339', 'score': 0.44}, {'connected_gene': 'SNORA2B', 'score': 0.39}, {'connected_gene': 'GC12M048670', 'score': 0.39}, {'connected_gene': 'GC12M048673', 'score': 0.39}]
chr12 GH12I047792 47792231 47794143 0.38 [{'connected_gene': 'HDAC7', 'score': 24.01}, {'connected_gene': 'CCNT1', 'score': 16.46}, {'connected_gene': 'KANSL2', 'score': 15.49}, {'connected_gene': 'RAPGEF3', 'score': 11.34}, {'connected_gene': 'SLC48A1', 'score': 11.27}, {'connected_gene': 'RPAP3', 'score': 10.37}, {'connected_gene': 'VDR', 'score': 10.13}, {'connected_gene': 'SENP1', 'score': 10.0}, {'connected_gene': 'ENSG00000276691', 'score': 0.77}, {'connected_gene': 'ENSG00000274737', 'score': 0.34}]
chr12 GH12I047804 47804931 47830565 2.8 [{'connected_gene': 'HDAC7', 'score': 569.37}, {'connected_gene': 'ENSG00000274737', 'score': 550.77}, {'connected_gene': 'LOC390314', 'score': 23.54}, {'connected_gene': 'KANSL2', 'score': 22.42}, {'connected_gene': 'CCNT1', 'score': 16.32}, {'connected_gene': 'RAPGEF3', 'score': 16.3}, {'connected_gene': 'ASB8', 'score': 13.73}, {'connected_gene': 'VDR', 'score': 11.95}, {'connected_gene': 'SENP1', 'score': 11.72}, {'connected_gene': 'SLC48A1', 'score': 11.5}, {'connected_gene': 'LOC102725258', 'score': 11.22}, {'connected_gene': 'RPL37P19', 'score': 11.15}, {'connected_gene': 'ENSG00000205537', 'score': 11.13}, {'connected_gene': 'ENSG00000268069', 'score': 10.67}, {'connected_gene': 'ENDOU', 'score': 10.41}, {'connected_gene': 'TMEM106C', 'score': 10.15}, {'connected_gene': 'CCDC184', 'score': 9.59}, {'connected_gene': 'PFKM', 'score': 4.59}, {'connected_gene': 'OR10AD1', 'score': 3.25}, {'connected_gene': 'RPAP3', 'score': 2.28}, {'connected_gene': 'LINC02354', 'score': 0.44}, {'connected_gene': 'ENSG00000276691', 'score': 0.31}]
chr12 GH12I047831 47831852 47836802 1.55 [{'connected_gene': 'HDAC7', 'score': 565.29}, {'connected_gene': 'LOC390314', 'score': 25.44}, {'connected_gene': 'SENP1', 'score': 22.41}, {'connected_gene': 'LOC102725258', 'score': 21.42}, {'connected_gene': 'CCNT1', 'score': 16.64}, {'connected_gene': 'CCDC184', 'score': 15.2}, {'connected_gene': 'H1FNT', 'score': 12.05}, {'connected_gene': 'KANSL2', 'score': 11.74}, {'connected_gene': 'RPAP3', 'score': 11.51}, {'connected_gene': 'CACNB3', 'score': 11.43}, {'connected_gene': 'RPL37P19', 'score': 11.15}, {'connected_gene': 'OR5BK1P', 'score': 10.31}, {'connected_gene': 'ENSG00000268069', 'score': 5.65}, {'connected_gene': 'OR10AD1', 'score': 2.74}, {'connected_gene': 'LINC02354', 'score': 0.44}, {'connected_gene': 'ENSG00000205537', 'score': 0.25}]
chr12 GH12I047404 47404568 47404748 0.22 [{'connected_gene': 'AMIGO2', 'score': 11.59}, {'connected_gene': 'RPAP3', 'score': 2.1}, {'connected_gene': 'LINC02156', 'score': 0.39}, {'connected_gene': 'MIR4494', 'score': 0.26}]
chr12 GH12I048104 48104238 48108341 2.11 [{'connected_gene': 'SENP1', 'score': 593.55}, {'connected_gene': 'PFKM', 'score': 550.77}, {'connected_gene': 'DDX23', 'score': 75.47}, {'connected_gene': 'KMT2D', 'score': 63.45}, {'connected_gene': 'CCNT1', 'score': 62.92}, {'connected_gene': 'LOC390314', 'score': 52.81}, {'connected_gene': 'KANSL2', 'score': 48.84}, {'connected_gene': 'RPL37P19', 'score': 31.3}, {'connected_gene': 'OR5BK1P', 'score': 30.48}, {'connected_gene': 'HDAC7', 'score': 23.07}, {'connected_gene': 'ADCY6', 'score': 21.1}, {'connected_gene': 'RPAP3', 'score': 19.31}, {'connected_gene': 'ZNF641', 'score': 16.44}, {'connected_gene': 'H1FNT', 'score': 15.89}, {'connected_gene': 'RNU6-1203P', 'score': 10.72}, {'connected_gene': 'C12orf54', 'score': 10.55}, {'connected_gene': 'PRKAG1', 'score': 10.31}, {'connected_gene': 'TMEM106C', 'score': 9.98}, {'connected_gene': 'ASB8', 'score': 9.74}, {'connected_gene': 'CCDC184', 'score': 9.66}, {'connected_gene': 'ENDOU', 'score': 4.24}]
chr12 GH12I047221 47220543 47225364 1.39 [{'connected_gene': 'SENP1', 'score': 29.48}, {'connected_gene': 'LOC102723757', 'score': 12.6}, {'connected_gene': 'AMIGO2', 'score': 11.16}, {'connected_gene': 'ENSG00000199566', 'score': 10.52}, {'connected_gene': 'RPAP3', 'score': 9.71}, {'connected_gene': 'ENSG00000258181', 'score': 9.33}, {'connected_gene': 'PCED1B', 'score': 5.74}, {'connected_gene': 'PCED1B-AS1', 'score': 0.44}, {'connected_gene': 'GC12P047244', 'score': 0.34}]
chr12 GH12I048021 48021838 48022199 0.95 [{'connected_gene': 'RPL37P19', 'score': 24.8}, {'connected_gene': 'KANSL2', 'score': 14.43}, {'connected_gene': 'CCNT1', 'score': 12.87}, {'connected_gene': 'SENP1', 'score': 12.54}, {'connected_gene': 'RPAP3', 'score': 11.92}, {'connected_gene': 'LOC390314', 'score': 11.74}, {'connected_gene': 'DDX23', 'score': 11.0}, {'connected_gene': 'VDR', 'score': 10.07}, {'connected_gene': 'ENSG00000205537', 'score': 9.18}, {'connected_gene': 'ENSG00000257955', 'score': 0.77}, {'connected_gene': 'COL2A1', 'score': 0.77}, {'connected_gene': 'LOC105369750', 'score': 0.39}]
chr12 GH12I047211 47211091 47219744 1.7 [{'connected_gene': 'PCED1B-AS1', 'score': 556.25}, {'connected_gene': 'GC12M047038', 'score': 550.77}, {'connected_gene': 'SENP1', 'score': 28.21}, {'connected_gene': 'AMIGO2', 'score': 16.85}, {'connected_gene': 'LOC102723757', 'score': 12.59}, {'connected_gene': 'ENSG00000258181', 'score': 11.99}, {'connected_gene': 'RPAP3', 'score': 9.71}, {'connected_gene': 'PCED1B', 'score': 8.39}]
chr12 GH12I047768 47768248 47769167 1.13 [{'connected_gene': 'ENSG00000277173', 'score': 550.77}, {'connected_gene': 'CCNT1', 'score': 49.96}, {'connected_gene': 'KANSL2', 'score': 46.19}, {'connected_gene': 'HDAC7', 'score': 35.49}, {'connected_gene': 'ENSG00000268069', 'score': 23.73}, {'connected_gene': 'RPAP3', 'score': 22.99}, {'connected_gene': 'SENP1', 'score': 20.38}, {'connected_gene': 'CCDC184', 'score': 12.86}, {'connected_gene': 'RAPGEF3', 'score': 0.77}, {'connected_gene': 'GC12M047752', 'score': 0.39}, {'connected_gene': 'SLC48A1', 'score': 0.39}]
chr12 GH12I047697 47697801 47698600 0.31 [{'connected_gene': 'ENSG00000276390', 'score': 550.77}, {'connected_gene': 'RPAP3', 'score': 0.44}, {'connected_gene': 'PIR37519', 'score': 0.21}]
chr12 GH12I047781 47781144 47781260 0.38 [{'connected_gene': 'GC12M047752', 'score': 550.77}, {'connected_gene': 'SLC48A1', 'score': 12.25}, {'connected_gene': 'RPAP3', 'score': 11.88}, {'connected_gene': 'ENDOU', 'score': 11.55}, {'connected_gene': 'ENSG00000205537', 'score': 10.09}, {'connected_gene': 'RAPGEF3', 'score': 0.39}]
chr12 GH12I047782 47781498 47783447 0.72 [{'connected_gene': 'GC12M047752', 'score': 550.77}, {'connected_gene': 'PIR42032', 'score': 550.77}, {'connected_gene': 'GC12P047785', 'score': 550.77}, {'connected_gene': 'SLC48A1', 'score': 12.25}, {'connected_gene': 'RPAP3', 'score': 11.88}, {'connected_gene': 'HDAC7', 'score': 11.59}, {'connected_gene': 'ENDOU', 'score': 11.55}, {'connected_gene': 'ENSG00000268069', 'score': 10.99}, {'connected_gene': 'ENSG00000205537', 'score': 10.3}, {'connected_gene': 'VDR', 'score': 10.08}]
chr12 GH12I047704 47704952 47707727 2.32 [{'connected_gene': 'ENSG00000257433', 'score': 564.07}, {'connected_gene': 'LOC105369748', 'score': 550.77}, {'connected_gene': 'RPAP3', 'score': 550.77}, {'connected_gene': 'OR5BK1P', 'score': 20.97}, {'connected_gene': 'VDR', 'score': 13.79}, {'connected_gene': 'SLC48A1', 'score': 12.16}, {'connected_gene': 'RAPGEF3', 'score': 12.12}, {'connected_gene': 'H1FNT', 'score': 12.04}, {'connected_gene': 'HDAC7', 'score': 11.64}, {'connected_gene': 'SENP1', 'score': 11.53}, {'connected_gene': 'ASB8', 'score': 10.31}, {'connected_gene': 'ENSG00000205537', 'score': 9.45}, {'connected_gene': 'CCDC184', 'score': 8.93}, {'connected_gene': 'ENDOU', 'score': 7.99}]

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