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
ENST00000502773 [[157681605, 157684358], [157688924, 157689142], [157693837, 157694045], [157731988, 157732169], [157771372, 157771568], [157891937, 157892546]] [[157684241, 157684358], [157688924, 157689142], [157693837, 157694045], [157731988, 157732169], [157771372, 157771568], [157891937, 157892055]]
ENST00000274071 [[157682765, 157684358], [157688924, 157689142], [157693837, 157694045], [157731988, 157732169], [157771372, 157771568], [157782580, 157782641], [157891937, 157892467]] [[157782606, 157782641], [157891937, 157892055]]
ENST00000541126 [[157683902, 157684358], [157688924, 157689142], [157693837, 157694045], [157731988, 157732169], [157891937, 157892228]] [[157684241, 157684358], [157688924, 157689142], [157693837, 157694045], [157731988, 157731994]]
ENST00000422544 [[157684241, 157684358], [157689113, 157689142], [157693837, 157694045], [157731988, 157732169], [157771372, 157771568], [157891937, 157892055]] [[157684241, 157684358], [157689113, 157689142], [157693837, 157694045], [157731988, 157732169], [157771372, 157771568], [157891937, 157892055]]
ENST00000504672 [[157683954, 157684358], [157688924, 157689028], [157689113, 157689142], [157693837, 157694045], [157694828, 157694869]] None
ENST00000506880 [[157684099, 157684358], [157688924, 157689142], [157693837, 157694045], [157699352, 157699461], [157700239, 157700310], [157731988, 157732020], [157732104, 157732169], [157771372, 157771424]] [[157700298, 157700310], [157731988, 157732020], [157732104, 157732169], [157771372, 157771424]]
ENST00000542208 [[157684099, 157684358], [157688924, 157689142], [157693837, 157694045], [157699352, 157699461], [157700239, 157700310], [157731988, 157732020], [157732104, 157732169], [157771372, 157771424]] [[157684241, 157684358], [157688924, 157689142], [157693837, 157694045], [157699352, 157699382]]
ENST00000510982 [[157688933, 157689142], [157693837, 157694045], [157695523, 157695630]] None
ENST00000511985 [[157691333, 157691795], [157693837, 157694045], [157731988, 157732043]] None
ENST00000512711 [[157693940, 157694045], [157757066, 157757159], [157771372, 157771568], [157782580, 157782641], [157795057, 157795124]] None
ENST00000513664 [[157888480, 157888897], [157891937, 157892117]] None
NR_036641 [[157682762, 157684358], [157688924, 157689142], [157693837, 157694045], [157731988, 157732169], [157771372, 157771568], [157782580, 157782641], [157891937, 157892546]] None
NM_016205 [[157682762, 157684358], [157688924, 157689142], [157693837, 157694045], [157731988, 157732169], [157771372, 157771568], [157891937, 157892546]] [[157684241, 157684358], [157688924, 157689142], [157693837, 157694045], [157731988, 157732169], [157771372, 157771568], [157891937, 157892055]]
Promoter
Chrom Start End Description
chr4 157695641 157695666 CAGE_peak_14_at_PDGFC_5end
chr4 157695752 157695777 CAGE_peak_13_at_PDGFC_5end
chr4 157892102 157892128 CAGE_peak_5_at_PDGFC_5end
chr4 157892139 157892162 CAGE_peak_6_at_PDGFC_5end
chr4 157892167 157892217 CAGE_peak_9_at_PDGFC_5end
chr4 157892250 157892283 CAGE_peak_4_at_PDGFC_5end
chr4 157892356 157892368 CAGE_peak_10_at_PDGFC_5end
chr4 157892471 157892493 CAGE_peak_8_at_PDGFC_5end
chr4 157892498 157892532 CAGE_peak_2_at_PDGFC_5end
chr4 157892733 157892740 CAGE_peak_17_at_PDGFC_5end
chr4 157892921 157892990 CAGE_peak_1_at_PDGFC_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I156769 156769480 156776779 1.34 [{'connected_gene': 'PDGFC', 'score': 15.86}, {'connected_gene': 'ENSG00000250622', 'score': 11.45}, {'connected_gene': 'ENSG00000248629', 'score': 11.29}, {'connected_gene': 'LINC02272', 'score': 9.75}, {'connected_gene': 'ENSG00000249479', 'score': 9.75}, {'connected_gene': 'ENSG00000248912', 'score': 0.17}]
chr4 GH04I156766 156766308 156769304 0.2 [{'connected_gene': 'PDGFC', 'score': 4.49}, {'connected_gene': 'ENSG00000248629', 'score': 0.19}, {'connected_gene': 'ENSG00000248912', 'score': 0.18}]
chr4 GH04I156968 156968023 156973466 2.36 [{'connected_gene': 'PDGFC', 'score': 553.3}, {'connected_gene': 'ENSG00000250622', 'score': 550.77}, {'connected_gene': 'ENSG00000278880', 'score': 0.18}]
chr4 GH04I156940 156940514 156952769 1.66 [{'connected_gene': 'PDGFC', 'score': 15.37}, {'connected_gene': 'ENSG00000250622', 'score': 11.57}, {'connected_gene': 'ENSG00000248629', 'score': 10.38}, {'connected_gene': 'ENSG00000278880', 'score': 0.22}]
chr4 GH04I156777 156777355 156783621 1.12 [{'connected_gene': 'PDGFC', 'score': 16.08}, {'connected_gene': 'ENSG00000250622', 'score': 11.45}, {'connected_gene': 'ENSG00000248629', 'score': 10.95}, {'connected_gene': 'ENSG00000248912', 'score': 0.16}]
chr4 GH04I156929 156929536 156932359 1.32 [{'connected_gene': 'PDGFC', 'score': 0.26}, {'connected_gene': 'ENSG00000278880', 'score': 0.26}]
chr4 GH04I156953 156953633 156954995 0.43 [{'connected_gene': 'PDGFC', 'score': 0.37}, {'connected_gene': 'ENSG00000278880', 'score': 0.2}]
chr4 GH04I156959 156959284 156960000 1 [{'connected_gene': 'PDGFC', 'score': 0.39}, {'connected_gene': 'ENSG00000278880', 'score': 0.19}]
chr4 GH04I157265 157265515 157265765 0.36 [{'connected_gene': 'GRIA2', 'score': 10.5}, {'connected_gene': 'RNU6-582P', 'score': 10.5}, {'connected_gene': 'LOC391707', 'score': 10.5}, {'connected_gene': 'GLRB', 'score': 3.22}, {'connected_gene': 'PDGFC', 'score': 1.43}, {'connected_gene': 'LINC02433', 'score': 0.06}]
chr4 GH04I156824 156824551 156826051 0.4 [{'connected_gene': 'LINC02272', 'score': 10.11}, {'connected_gene': 'ENSG00000249479', 'score': 10.11}, {'connected_gene': 'PDGFC', 'score': 4.08}, {'connected_gene': 'ENSG00000248629', 'score': 0.37}, {'connected_gene': 'ENSG00000248912', 'score': 0.12}]
chr4 GH04I156829 156829001 156831158 0.71 [{'connected_gene': 'LINC02272', 'score': 9.9}, {'connected_gene': 'ENSG00000249479', 'score': 9.9}, {'connected_gene': 'ENSG00000248629', 'score': 0.39}, {'connected_gene': 'ENSG00000248912', 'score': 0.11}, {'connected_gene': 'PDGFC', 'score': 0.11}]
chr4 GH04I157125 157125869 157127026 0.2 [{'connected_gene': 'ENSG00000250622', 'score': 11.06}, {'connected_gene': 'PDGFC', 'score': 11.05}, {'connected_gene': 'GLRB', 'score': 5.17}, {'connected_gene': 'RNU6-582P', 'score': 0.18}]
chr4 GH04I156998 156998577 157000475 1.12 [{'connected_gene': 'ENSG00000250622', 'score': 11.91}, {'connected_gene': 'PDGFC', 'score': 11.91}, {'connected_gene': 'GLRB', 'score': 4.52}, {'connected_gene': 'RPPH1-3P', 'score': 0.39}, {'connected_gene': 'GC04P157065', 'score': 0.2}]
chr4 GH04I157003 157003215 157005562 1.05 [{'connected_gene': 'ENSG00000250622', 'score': 11.89}, {'connected_gene': 'PDGFC', 'score': 11.89}, {'connected_gene': 'GLRB', 'score': 4.53}, {'connected_gene': 'RPPH1-3P', 'score': 0.37}, {'connected_gene': 'GC04P157065', 'score': 0.21}]
chr4 GH04I156992 156992479 156993728 0.31 [{'connected_gene': 'ENSG00000250622', 'score': 11.43}, {'connected_gene': 'PDGFC', 'score': 11.43}, {'connected_gene': 'RNU6-582P', 'score': 9.26}, {'connected_gene': 'GRIA2', 'score': 9.26}, {'connected_gene': 'LOC391707', 'score': 9.26}, {'connected_gene': 'RPPH1-3P', 'score': 0.44}, {'connected_gene': 'GC04P157065', 'score': 0.19}]
chr4 GH04I157012 157012375 157013755 0.58 [{'connected_gene': 'ENSG00000250622', 'score': 11.37}, {'connected_gene': 'PDGFC', 'score': 11.37}, {'connected_gene': 'RPPH1-3P', 'score': 0.31}, {'connected_gene': 'GC04P157065', 'score': 0.23}]
chr4 GH04I157048 157048369 157048518 0.2 [{'connected_gene': 'ENSG00000250622', 'score': 11.83}, {'connected_gene': 'PDGFC', 'score': 11.83}, {'connected_gene': 'GC04P157065', 'score': 0.37}, {'connected_gene': 'RPPH1-3P', 'score': 0.21}]
chr4 GH04I156898 156898201 156898800 0.52 [{'connected_gene': 'ENSG00000250622', 'score': 11.33}, {'connected_gene': 'PDGFC', 'score': 11.33}, {'connected_gene': 'ENSG00000248629', 'score': 11.15}, {'connected_gene': 'ENSG00000278880', 'score': 0.39}]
chr4 GH04I156932 156932896 156935723 1.15 [{'connected_gene': 'ENSG00000250622', 'score': 11.31}, {'connected_gene': 'PDGFC', 'score': 11.31}, {'connected_gene': 'ENSG00000248629', 'score': 10.11}, {'connected_gene': 'ENSG00000278880', 'score': 0.25}]
chr4 GH04I156938 156938912 156940404 0.87 [{'connected_gene': 'ENSG00000250622', 'score': 11.56}, {'connected_gene': 'PDGFC', 'score': 11.56}, {'connected_gene': 'ENSG00000248629', 'score': 10.39}, {'connected_gene': 'ENSG00000278880', 'score': 0.23}]
chr4 GH04I156676 156676615 156678344 0.56 [{'connected_gene': 'ENSG00000250622', 'score': 10.29}, {'connected_gene': 'PDGFC', 'score': 10.29}, {'connected_gene': 'ENSG00000248629', 'score': 9.5}, {'connected_gene': 'ENSG00000248912', 'score': 0.44}, {'connected_gene': 'GC04P156646', 'score': 0.29}]
chr4 GH04I156888 156888336 156890755 0.51 [{'connected_gene': 'ENSG00000248629', 'score': 11.44}, {'connected_gene': 'ENSG00000278880', 'score': 0.77}, {'connected_gene': 'PDGFC', 'score': 0.18}]
chr4 GH04I156814 156814449 156816772 0.88 [{'connected_gene': 'ENSG00000248629', 'score': 12.14}, {'connected_gene': 'PDGFC', 'score': 5.14}, {'connected_gene': 'ENSG00000248912', 'score': 0.13}]
chr4 GH04I156798 156798201 156800010 0.72 [{'connected_gene': 'ENSG00000248629', 'score': 11.61}, {'connected_gene': 'PDGFC', 'score': 4.59}, {'connected_gene': 'ENSG00000248912', 'score': 0.14}]
chr4 GH04I156805 156805458 156807104 0.38 [{'connected_gene': 'ENSG00000248629', 'score': 11.28}, {'connected_gene': 'ENSG00000248912', 'score': 0.13}, {'connected_gene': 'PDGFC', 'score': 0.1}]
chr4 GH04I156960 156960612 156963828 1.1 [{'connected_gene': 'ENSG00000248629', 'score': 10.19}, {'connected_gene': 'PDGFC', 'score': 0.44}, {'connected_gene': 'ENSG00000278880', 'score': 0.18}]
chr4 GH04I156763 156763566 156765509 0.98 [{'connected_gene': 'ENSG00000248912', 'score': 0.18}, {'connected_gene': 'ENSG00000248629', 'score': 0.18}, {'connected_gene': 'PDGFC', 'score': 0.08}]
chr4 GH04I156884 156884201 156884400 0.2 [{'connected_gene': 'ENSG00000248629', 'score': 10.66}, {'connected_gene': 'ENSG00000278880', 'score': 0.77}, {'connected_gene': 'ENSG00000280284', 'score': 0.44}, {'connected_gene': 'PDGFC', 'score': 0.17}]