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
ENST00000270861 [[128802015, 128802319], [128802985, 128803081], [128804416, 128804512], [128804593, 128804708], [128806862, 128807883], [128808550, 128808651], [128811020, 128811391], [128812246, 128812351], [128812733, 128812836], [128813519, 128813669], [128814439, 128814573], [128814667, 128814759], [128814888, 128815036], [128816107, 128816248], [128817955, 128818062], [128819593, 128820350]] [[128802289, 128802319], [128802985, 128803081], [128804416, 128804512], [128804593, 128804708], [128806862, 128807883], [128808550, 128808651], [128811020, 128811391], [128812246, 128812351], [128812733, 128812836], [128813519, 128813669], [128814439, 128814573], [128814667, 128814759], [128814888, 128815036], [128816107, 128816248], [128817955, 128818062], [128819593, 128819696]]
ENST00000511942 [[128802047, 128802319], [128802985, 128803081], [128804420, 128804512], [128804593, 128804671]] None
ENST00000503914 [[128802053, 128802319], [128802985, 128803081], [128804416, 128804625]] None
ENST00000515069 [[128802063, 128802319], [128802985, 128803081], [128804416, 128804512], [128804593, 128804708], [128806862, 128807883], [128808550, 128808651], [128811254, 128811391], [128812246, 128812351], [128812733, 128812836], [128813519, 128813669], [128814439, 128814573], [128814667, 128814759], [128814888, 128815036], [128816107, 128816248], [128817955, 128818062], [128819593, 128820222]] [[128802289, 128802319], [128802985, 128803081], [128804416, 128804512], [128804593, 128804708], [128806862, 128807883], [128808550, 128808651], [128811254, 128811391], [128812246, 128812351], [128812733, 128812836], [128813519, 128813669], [128814439, 128814573], [128814667, 128814759], [128814888, 128815036], [128816107, 128816248], [128817955, 128818062], [128819593, 128819696]]
ENST00000513090 [[128802081, 128802319], [128802985, 128803081], [128804593, 128804708], [128806862, 128807883], [128808550, 128808651], [128811020, 128811391], [128812246, 128812351], [128812733, 128812836], [128813519, 128813669], [128814439, 128814573], [128814667, 128814759], [128814888, 128815036], [128816107, 128816248], [128817955, 128818062], [128819593, 128819794]] [[128802289, 128802319], [128802985, 128803081], [128804593, 128804708], [128806862, 128807883], [128808550, 128808651], [128811020, 128811391], [128812246, 128812351], [128812733, 128812836], [128813519, 128813669], [128814439, 128814573], [128814667, 128814759], [128814888, 128815036], [128816107, 128816248], [128817955, 128818062], [128819593, 128819696]]
ENST00000507249 [[128802083, 128802319], [128802985, 128803081], [128804416, 128804512], [128804593, 128804708], [128806862, 128807781], [128808550, 128808651], [128811020, 128811391], [128812246, 128812270], [128812733, 128812836], [128813519, 128813669], [128814439, 128814573], [128814667, 128814759], [128814888, 128815036], [128816107, 128816248], [128817955, 128818062], [128819593, 128819955]] [[128802289, 128802319], [128802985, 128803081], [128804416, 128804512], [128804593, 128804708], [128806862, 128807781], [128808550, 128808651], [128811020, 128811391], [128812246, 128812270], [128812733, 128812836], [128813519, 128813669], [128814439, 128814573], [128814667, 128814759], [128814888, 128815036], [128816107, 128816248], [128817955, 128818062], [128819593, 128819696]]
ENST00000514379 [[128802386, 128802525], [128802985, 128803081], [128804416, 128804512], [128804593, 128804708], [128806862, 128807883], [128808550, 128808651], [128811020, 128811391], [128812246, 128812351], [128812733, 128812836], [128813519, 128813669], [128814439, 128814573], [128814667, 128814759], [128814888, 128815036], [128816107, 128816248], [128817955, 128818062], [128819593, 128819734]] [[128803078, 128803081], [128804416, 128804512], [128804593, 128804708], [128806862, 128807883], [128808550, 128808651], [128811020, 128811391], [128812246, 128812351], [128812733, 128812836], [128813519, 128813669], [128814439, 128814573], [128814667, 128814759], [128814888, 128815036], [128816107, 128816248], [128817955, 128818062], [128819593, 128819696]]
ENST00000510605 [[128808488, 128808651], [128811020, 128811391], [128812246, 128812349]] None
ENST00000507454 [[128812151, 128812351], [128812733, 128812836], [128813519, 128813848]] None
ENST00000508113 [[128812325, 128812351], [128813519, 128813553], [128814667, 128814759], [128814888, 128815036], [128816107, 128816248], [128817955, 128818062], [128819593, 128819641]] [[128812325, 128812351], [128813519, 128813553], [128814667, 128814759], [128814888, 128815036], [128816107, 128816248], [128817955, 128818062], [128819593, 128819641]]
ENST00000510192 [[128814354, 128814573], [128814667, 128814759], [128814888, 128815036], [128816107, 128816248], [128817955, 128818062], [128819593, 128819697]] None
NM_001190799 [[128802015, 128802319], [128802985, 128803081], [128804593, 128804708], [128806862, 128807883], [128808550, 128808651], [128811020, 128811391], [128812246, 128812351], [128812733, 128812836], [128813519, 128813669], [128814439, 128814573], [128814667, 128814759], [128814888, 128815036], [128816107, 128816248], [128817955, 128818062], [128819593, 128820379]] [[128802289, 128802319], [128802985, 128803081], [128804593, 128804708], [128806862, 128807883], [128808550, 128808651], [128811020, 128811391], [128812246, 128812351], [128812733, 128812836], [128813519, 128813669], [128814439, 128814573], [128814667, 128814759], [128814888, 128815036], [128816107, 128816248], [128817955, 128818062], [128819593, 128819696]]
NM_014264 [[128802015, 128802319], [128802985, 128803081], [128804416, 128804512], [128804593, 128804708], [128806862, 128807883], [128808550, 128808651], [128811020, 128811391], [128812246, 128812351], [128812733, 128812836], [128813519, 128813669], [128814439, 128814573], [128814667, 128814759], [128814888, 128815036], [128816107, 128816248], [128817955, 128818062], [128819593, 128820379]] [[128802289, 128802319], [128802985, 128803081], [128804416, 128804512], [128804593, 128804708], [128806862, 128807883], [128808550, 128808651], [128811020, 128811391], [128812246, 128812351], [128812733, 128812836], [128813519, 128813669], [128814439, 128814573], [128814667, 128814759], [128814888, 128815036], [128816107, 128816248], [128817955, 128818062], [128819593, 128819696]]
NM_001190801 [[128802398, 128802525], [128802985, 128803081], [128804416, 128804512], [128804593, 128804708], [128806862, 128807883], [128808550, 128808651], [128811020, 128811391], [128812246, 128812351], [128812733, 128812836], [128813519, 128813669], [128814439, 128814573], [128814667, 128814759], [128814888, 128815036], [128816107, 128816248], [128817955, 128818062], [128819593, 128820379]] [[128803078, 128803081], [128804416, 128804512], [128804593, 128804708], [128806862, 128807883], [128808550, 128808651], [128811020, 128811391], [128812246, 128812351], [128812733, 128812836], [128813519, 128813669], [128814439, 128814573], [128814667, 128814759], [128814888, 128815036], [128816107, 128816248], [128817955, 128818062], [128819593, 128819696]]
Promoter
Chrom Start End Description
chr4 128802038 128802095 CAGE_peak_1_at_PLK4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I127966 127966801 127967906 0.72 [{'connected_gene': 'MFSD8', 'score': 550.77}, {'connected_gene': 'RNU6-583P', 'score': 11.56}, {'connected_gene': 'PLK4', 'score': 11.55}, {'connected_gene': 'ABHD18', 'score': 0.77}, {'connected_gene': 'GC04M128059', 'score': 0.16}]
chr4 GH04I127879 127879586 127882134 2.07 [{'connected_gene': 'PLK4', 'score': 550.77}, {'connected_gene': 'HSPA4L', 'score': 8.02}, {'connected_gene': 'ABHD18', 'score': 4.23}, {'connected_gene': 'ENSG00000261668', 'score': 0.28}]
chr4 GH04I126898 126898367 126901201 0.51 [{'connected_gene': 'PLK4', 'score': 4.0}, {'connected_gene': 'GC04M127030', 'score': 0.13}, {'connected_gene': 'ENSG00000199862', 'score': 0.13}, {'connected_gene': 'RBM48P1', 'score': 0.05}]
chr4 GH04I127856 127856083 127857806 0.94 [{'connected_gene': 'PLK4', 'score': 11.27}, {'connected_gene': 'RNU6-583P', 'score': 11.21}, {'connected_gene': 'INTU', 'score': 7.46}, {'connected_gene': 'ABHD18', 'score': 3.98}, {'connected_gene': 'ENSG00000261668', 'score': 0.39}]
chr4 GH04I127846 127846246 127846395 0.69 [{'connected_gene': 'PLK4', 'score': 12.14}, {'connected_gene': 'RNU6-583P', 'score': 12.09}, {'connected_gene': 'ENSG00000261668', 'score': 0.77}]
chr4 GH04I127870 127870601 127871201 0.89 [{'connected_gene': 'PLK4', 'score': 0.44}, {'connected_gene': 'ENSG00000261668', 'score': 0.31}]

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