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
ENST00000219334 [[68392230, 68395210], [68395505, 68395662], [68397398, 68397462], [68397679, 68397769], [68398653, 68398809], [68398919, 68398995], [68404761, 68406290], [68420500, 68420562], [68482255, 68482591]] [[68395108, 68395210], [68395505, 68395662], [68397398, 68397462], [68397679, 68397769], [68398653, 68398809], [68398919, 68398995], [68404761, 68406084]]
ENST00000566723 [[68404876, 68404995], [68406194, 68406290], [68415947, 68416104], [68420500, 68420562], [68482255, 68482345]] None
ENST00000561749 [[68405803, 68406290], [68482255, 68482395]] [[68405803, 68406084]]
ENST00000574662 [[68394440, 68395662], [68397398, 68397462], [68397679, 68397769], [68398653, 68398809], [68398919, 68398995], [68404761, 68404908]] [[68395573, 68395662], [68397398, 68397462], [68397679, 68397769], [68398653, 68398809], [68398919, 68398995], [68404761, 68404908]]
ENST00000568373 [[68395029, 68395210], [68395505, 68395611], [68397398, 68397462], [68397679, 68397769], [68398653, 68398809], [68398919, 68398995], [68404761, 68406161]] [[68395108, 68395210], [68395505, 68395611], [68397398, 68397462], [68397679, 68397769], [68398653, 68398809], [68398919, 68398995], [68404761, 68406084]]
ENST00000563226 [[68395036, 68395210], [68395505, 68395662], [68397398, 68397462], [68397703, 68397769], [68398653, 68398809], [68398919, 68398995], [68404761, 68406161]] [[68395108, 68395210], [68395505, 68395662], [68397398, 68397462], [68397703, 68397769], [68398653, 68398809], [68398919, 68398995], [68404761, 68406084]]
ENST00000563396 [[68395201, 68395611], [68397398, 68397596]] None
ENST00000567223 [[68397644, 68397769], [68398653, 68398809], [68398919, 68398995], [68404761, 68404934]] None
ENST00000566009 [[68398316, 68398497], [68398653, 68398809], [68398919, 68398995], [68404761, 68404934]] None
ENST00000567811 [[68398482, 68398809], [68398919, 68398995], [68404761, 68404934]] None
ENST00000563455 [[68401354, 68401749], [68404761, 68404912]] None
ENST00000566466 [[68402757, 68403117], [68404761, 68404983]] None
NM_018667 [[68392229, 68395210], [68395505, 68395662], [68397398, 68397462], [68397679, 68397769], [68398653, 68398809], [68398919, 68398995], [68404761, 68406290], [68420500, 68420562], [68482255, 68482409]] [[68395108, 68395210], [68395505, 68395662], [68397398, 68397462], [68397679, 68397769], [68398653, 68398809], [68398919, 68398995], [68404761, 68406084]]
Promoter
Chrom Start End Description
chr16 68406171 68406196 CAGE_peak_4_at_SMPD3_5end
chr16 68482370 68482375 CAGE_peak_3_at_SMPD3_5end
chr16 68482394 68482417 CAGE_peak_1_at_SMPD3_5end
chr16 68482440 68482453 CAGE_peak_2_at_SMPD3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I068414 68414946 68419536 1.25 [{'connected_gene': 'SLC7A6OS', 'score': 12.1}, {'connected_gene': 'SMPD3', 'score': 11.8}, {'connected_gene': 'ZFP90', 'score': 10.9}, {'connected_gene': 'PRMT7', 'score': 10.52}, {'connected_gene': 'RNU4-36P', 'score': 10.37}, {'connected_gene': 'UTP4', 'score': 5.09}, {'connected_gene': 'CDH1', 'score': 4.32}, {'connected_gene': 'NFATC3', 'score': 3.13}, {'connected_gene': 'PSMB10', 'score': 2.95}, {'connected_gene': 'DPEP2', 'score': 2.87}, {'connected_gene': 'TANGO6', 'score': 2.78}, {'connected_gene': 'SLC7A6', 'score': 2.23}, {'connected_gene': 'GC16M068393', 'score': 0.34}]
chr16 GH16I068396 68396658 68396787 0.65 [{'connected_gene': 'GFOD2', 'score': 4.17}, {'connected_gene': 'GC16M068393', 'score': 0.77}, {'connected_gene': 'SMPD3', 'score': 0.23}]
chr16 GH16I067536 67536540 67539417 2.02 [{'connected_gene': 'RIPOR1', 'score': 550.37}, {'connected_gene': 'ATP6V0D1', 'score': 15.79}, {'connected_gene': 'SMPD3', 'score': 4.13}, {'connected_gene': 'ENSG00000261396', 'score': 0.77}, {'connected_gene': 'LOC100505942', 'score': 0.44}]
chr16 GH16I068406 68406458 68407200 0.63 [{'connected_gene': 'SMPD3', 'score': 11.51}, {'connected_gene': 'PRMT7', 'score': 10.46}, {'connected_gene': 'SLC7A6OS', 'score': 10.46}, {'connected_gene': 'RNU4-36P', 'score': 10.09}, {'connected_gene': 'ZFP90', 'score': 4.25}, {'connected_gene': 'GC16M068393', 'score': 0.39}]
chr16 GH16I068486 68486482 68487803 0.66 [{'connected_gene': 'SMPD3', 'score': 12.55}, {'connected_gene': 'RNU4-36P', 'score': 10.77}, {'connected_gene': 'PRMT7', 'score': 9.95}, {'connected_gene': 'SLC7A6OS', 'score': 9.95}, {'connected_gene': 'ZFP90', 'score': 9.61}, {'connected_gene': 'GC16M068485', 'score': 0.77}, {'connected_gene': 'GC16M068480', 'score': 0.44}]
chr16 GH16I068489 68489905 68494039 1.09 [{'connected_gene': 'SMPD3', 'score': 12.32}, {'connected_gene': 'RNU4-36P', 'score': 11.13}, {'connected_gene': 'ZFP90', 'score': 10.69}, {'connected_gene': 'GC16M068494', 'score': 0.77}, {'connected_gene': 'PIR40396', 'score': 0.77}, {'connected_gene': 'GC16M068485', 'score': 0.77}]
chr16 GH16I068434 68434938 68435087 0.38 [{'connected_gene': 'SMPD3', 'score': 0.39}, {'connected_gene': 'GC16M068393', 'score': 0.26}]
chr16 GH16I068370 68367098 68367307 0.76 [{'connected_gene': 'DUS2', 'score': 7.41}, {'connected_gene': 'ENSG00000279693', 'score': 0.77}, {'connected_gene': 'RNU4-30P', 'score': 0.28}, {'connected_gene': 'SMPD3', 'score': 0.18}]
chr16 GH16I068381 68381793 68388683 1.39 [{'connected_gene': 'PRMT7', 'score': 41.4}, {'connected_gene': 'SLC7A6', 'score': 14.59}, {'connected_gene': 'SLC7A6OS', 'score': 10.67}, {'connected_gene': 'RNU4-36P', 'score': 10.59}, {'connected_gene': 'DUS2', 'score': 9.88}, {'connected_gene': 'GC16M068393', 'score': 0.44}, {'connected_gene': 'ENSG00000279693', 'score': 0.39}, {'connected_gene': 'SMPD3', 'score': 0.21}]
chr16 GH16I068377 68377015 68378509 0.74 [{'connected_gene': 'PRMT7', 'score': 41.64}, {'connected_gene': 'SLC7A6', 'score': 25.07}, {'connected_gene': 'SLC7A6OS', 'score': 10.96}, {'connected_gene': 'RNU4-30P', 'score': 10.79}, {'connected_gene': 'ENSG00000279693', 'score': 0.44}, {'connected_gene': 'GC16M068393', 'score': 0.37}, {'connected_gene': 'SMPD3', 'score': 0.19}]
chr16 GH16I068361 68361690 68362964 0.46 [{'connected_gene': 'PRMT7', 'score': 36.84}, {'connected_gene': 'SLC7A6', 'score': 14.28}, {'connected_gene': 'DUS2', 'score': 7.81}, {'connected_gene': 'DPEP2', 'score': 4.29}, {'connected_gene': 'ENSG00000279693', 'score': 0.44}, {'connected_gene': 'RNU4-30P', 'score': 0.29}, {'connected_gene': 'SMPD3', 'score': 0.17}]
chr16 GH16I068367 68367358 68367507 0.69 [{'connected_gene': 'PRMT7', 'score': 36.91}, {'connected_gene': 'SLC7A6', 'score': 16.11}, {'connected_gene': 'DUS2', 'score': 9.46}, {'connected_gene': 'ENSG00000279693', 'score': 0.77}, {'connected_gene': 'RNU4-30P', 'score': 0.28}, {'connected_gene': 'SMPD3', 'score': 0.18}]
chr16 GH16I068279 68279710 68293211 1.74 [{'connected_gene': 'PRMT7', 'score': 44.55}, {'connected_gene': 'SLC7A6', 'score': 34.41}, {'connected_gene': 'NFATC3', 'score': 20.06}, {'connected_gene': 'SLC7A6OS', 'score': 16.27}, {'connected_gene': 'RNU4-30P', 'score': 10.85}, {'connected_gene': 'DUS2', 'score': 10.58}, {'connected_gene': 'RANBP10', 'score': 9.94}, {'connected_gene': 'DPEP2', 'score': 6.39}, {'connected_gene': 'PSMB10', 'score': 5.26}, {'connected_gene': 'LRRC36', 'score': 4.23}, {'connected_gene': 'THAP11', 'score': 3.43}, {'connected_gene': 'SMPD3', 'score': 2.58}, {'connected_gene': 'ZFP90', 'score': 1.63}, {'connected_gene': 'EDC4', 'score': 1.57}, {'connected_gene': 'RNU6-1262P', 'score': 0.77}, {'connected_gene': 'ENSG00000279649', 'score': 0.44}]
chr16 GH16I068364 68364242 68365042 0.64 [{'connected_gene': 'PRMT7', 'score': 37.19}, {'connected_gene': 'SLC7A6', 'score': 15.7}, {'connected_gene': 'ENSG00000279693', 'score': 0.44}, {'connected_gene': 'RNU4-30P', 'score': 0.28}, {'connected_gene': 'SMPD3', 'score': 0.18}]
chr16 GH16I068409 68409158 68409187 0.2 [{'connected_gene': 'PRMT7', 'score': 10.53}, {'connected_gene': 'SLC7A6OS', 'score': 10.53}, {'connected_gene': 'RNU4-36P', 'score': 10.37}, {'connected_gene': 'ZFP90', 'score': 6.09}, {'connected_gene': 'GC16M068393', 'score': 0.37}, {'connected_gene': 'SMPD3', 'score': 0.28}]
chr16 GH16I068358 68358592 68360215 0.31 [{'connected_gene': 'PRMT7', 'score': 48.01}, {'connected_gene': 'RNU6-1262P', 'score': 12.21}, {'connected_gene': 'SLC7A6OS', 'score': 11.32}, {'connected_gene': 'SLC7A6', 'score': 11.32}, {'connected_gene': 'ENSG00000212445', 'score': 10.0}, {'connected_gene': 'ENSG00000279693', 'score': 0.39}, {'connected_gene': 'RNU4-30P', 'score': 0.31}, {'connected_gene': 'SMPD3', 'score': 0.17}]
chr16 GH16I068520 68520419 68521200 1.14 [{'connected_gene': 'ZFP90', 'score': 35.47}, {'connected_gene': 'SMPD3', 'score': 11.32}, {'connected_gene': 'PRMT7', 'score': 9.87}, {'connected_gene': 'SLC7A6OS', 'score': 9.87}, {'connected_gene': 'LOC105371321', 'score': 0.44}]
chr16 GH16I068448 68448178 68449201 1.99 [{'connected_gene': 'PIR55988', 'score': 550.77}, {'connected_gene': 'ENSG00000274698', 'score': 550.77}, {'connected_gene': 'SMPD3', 'score': 550.77}, {'connected_gene': 'ZFP90', 'score': 10.36}]
chr16 GH16I068509 68509645 68510625 1.22 [{'connected_gene': 'GC16M068509', 'score': 550.77}, {'connected_gene': 'PIR38497', 'score': 550.77}, {'connected_gene': 'SMPD3', 'score': 12.19}, {'connected_gene': 'RNU4-36P', 'score': 11.48}, {'connected_gene': 'ZFP90', 'score': 8.67}, {'connected_gene': 'LOC105371321', 'score': 0.77}]
chr16 GH16I068481 68481401 68481800 0.72 [{'connected_gene': 'PIR45464', 'score': 550.77}, {'connected_gene': 'GC16M068480', 'score': 550.77}, {'connected_gene': 'GC16M068479', 'score': 550.77}, {'connected_gene': 'SMPD3', 'score': 12.01}, {'connected_gene': 'RNU4-36P', 'score': 10.87}, {'connected_gene': 'ZFP90', 'score': 10.66}]
chr16 GH16I068475 68475198 68475347 0.79 [{'connected_gene': 'GC16M068474', 'score': 550.77}, {'connected_gene': 'ENSG00000199263', 'score': 550.77}, {'connected_gene': 'SMPD3', 'score': 12.03}, {'connected_gene': 'RNU4-36P', 'score': 10.84}, {'connected_gene': 'GC16M068477', 'score': 0.77}]
chr16 GH16I068369 68369424 68371573 1.1 [{'connected_gene': 'ENSG00000279693', 'score': 550.77}, {'connected_gene': 'PRMT7', 'score': 37.2}, {'connected_gene': 'SLC7A6', 'score': 15.15}, {'connected_gene': 'DUS2', 'score': 9.45}, {'connected_gene': 'CENPT', 'score': 4.62}, {'connected_gene': 'GC16M068393', 'score': 0.34}, {'connected_gene': 'SMPD3', 'score': 0.18}]
chr16 GH16I068368 68367875 68369347 0.83 [{'connected_gene': 'ENSG00000279693', 'score': 550.77}, {'connected_gene': 'PRMT7', 'score': 20.3}, {'connected_gene': 'SLC7A6', 'score': 14.6}, {'connected_gene': 'RNU4-30P', 'score': 0.28}, {'connected_gene': 'SMPD3', 'score': 0.18}]
chr16 GH16I068478 68478478 68479550 0.52 [{'connected_gene': 'PIR45464', 'score': 550.77}, {'connected_gene': 'RPL35AP33', 'score': 550.77}, {'connected_gene': 'GC16M068477', 'score': 550.77}, {'connected_gene': 'GC16M068479', 'score': 550.77}, {'connected_gene': 'SMPD3', 'score': 12.01}, {'connected_gene': 'RNU4-36P', 'score': 10.86}]