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
ENST00000324453 [[30174425, 30174914], [30185792, 30185915], [30197053, 30202378]] [[30174752, 30174914], [30185792, 30185915], [30197053, 30197164]]
ENST00000409688 [[30174603, 30174914], [30197053, 30197585]] [[30174752, 30174914], [30197053, 30197164]]
ENST00000415604 [[30174752, 30174914], [30185792, 30185915], [30197053, 30197211], [30198601, 30199534]] [[30174752, 30174914], [30185792, 30185915], [30197053, 30197164]]
ENST00000434060 [[30176874, 30177310], [30185792, 30185911]] [[30177199, 30177310], [30185792, 30185911]]
ENST00000324489 [[30185416, 30185575], [30185792, 30185915], [30197053, 30202376]] [[30185512, 30185575], [30185792, 30185915], [30197053, 30197164]]
ENST00000455738 [[30185512, 30185575], [30185792, 30185915], [30197053, 30197211], [30198601, 30199534]] [[30185512, 30185575], [30185792, 30185915], [30197053, 30197164]]
NM_152793 [[30174551, 30174914], [30185792, 30185915], [30197053, 30202381]] [[30174752, 30174914], [30185792, 30185915], [30197053, 30197164]]
Promoter
Chrom Start End Description
chr7 30174343 30174352 CAGE_peak_4_at_C7orf41_5end
chr7 30174430 30174441 CAGE_peak_2_at_C7orf41_5end
chr7 30174574 30174655 CAGE_peak_1_at_C7orf41_5end
chr7 30174657 30174667 CAGE_peak_3_at_C7orf41_5end
chr7 30174668 30174675 CAGE_peak_5_at_C7orf41_5end
chr7 30185406 30185413 CAGE_peak_21_at_C7orf41_5end
chr7 30185434 30185466 CAGE_peak_6_at_C7orf41_5end
chr7 30185483 30185493 CAGE_peak_14_at_C7orf41_5end
chr7 30185496 30185506 CAGE_peak_20_at_C7orf41_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I030158 30158900 30160873 1.16 [{'connected_gene': 'MIR550A1', 'score': 12.1}, {'connected_gene': 'ZNRF2', 'score': 12.1}, {'connected_gene': 'NOD1', 'score': 11.06}, {'connected_gene': 'MTURN', 'score': 6.39}, {'connected_gene': 'LOC105375217', 'score': 5.44}, {'connected_gene': 'ENSG00000251660', 'score': 0.77}, {'connected_gene': 'RPS27P16', 'score': 0.44}]
chr7 GH07I030162 30161236 30161865 0.2 [{'connected_gene': 'MIR550A1', 'score': 12.1}, {'connected_gene': 'ZNRF2', 'score': 12.1}, {'connected_gene': 'NOD1', 'score': 11.06}, {'connected_gene': 'ENSG00000251660', 'score': 0.77}, {'connected_gene': 'RPS27P16', 'score': 0.44}, {'connected_gene': 'MTURN', 'score': 0.31}]
chr7 GH07I029805 29805595 29808118 1.76 [{'connected_gene': 'WIPF3', 'score': 550.77}, {'connected_gene': 'DPY19L2P3', 'score': 5.98}, {'connected_gene': 'MTURN', 'score': 4.55}, {'connected_gene': 'GC07P029912', 'score': 0.14}]
chr7 GH07I030161 30161867 30167245 1.62 [{'connected_gene': 'ZNRF2', 'score': 21.76}, {'connected_gene': 'MIR550A1', 'score': 12.1}, {'connected_gene': 'NOD1', 'score': 11.06}, {'connected_gene': 'MTURN', 'score': 6.43}, {'connected_gene': 'LOC105375217', 'score': 5.08}, {'connected_gene': 'RPS27P16', 'score': 0.77}, {'connected_gene': 'ENSG00000251660', 'score': 0.44}]
chr7 GH07I029976 29976271 29977200 0.69 [{'connected_gene': 'MTURN', 'score': 14.12}, {'connected_gene': 'PLEKHA8', 'score': 11.61}, {'connected_gene': 'FKBP14', 'score': 11.61}, {'connected_gene': 'ENSG00000238906', 'score': 10.25}, {'connected_gene': 'ENSG00000223813', 'score': 7.76}, {'connected_gene': 'PIR51591', 'score': 0.44}, {'connected_gene': 'SCRN1', 'score': 0.39}, {'connected_gene': 'LOC105375215', 'score': 0.39}]
chr7 GH07I030067 30067861 30069047 0.46 [{'connected_gene': 'MTURN', 'score': 13.61}, {'connected_gene': 'PLEKHA8', 'score': 10.84}, {'connected_gene': 'FKBP14', 'score': 10.84}, {'connected_gene': 'SCRN1', 'score': 10.65}, {'connected_gene': 'LOC105375215', 'score': 10.64}, {'connected_gene': 'ENSG00000231519', 'score': 0.44}]
chr7 GH07I030121 30121058 30122785 0.59 [{'connected_gene': 'MTURN', 'score': 12.75}, {'connected_gene': 'PLEKHA8', 'score': 4.48}, {'connected_gene': 'ENSG00000283618', 'score': 0.44}, {'connected_gene': 'LOC105375216', 'score': 0.39}]
chr7 GH07I030090 30090863 30092384 0.38 [{'connected_gene': 'MTURN', 'score': 15.0}, {'connected_gene': 'PIR63011', 'score': 0.77}, {'connected_gene': 'GC07P030079', 'score': 0.39}, {'connected_gene': 'PLEKHA8', 'score': 0.21}]
chr7 GH07I030176 30176201 30177863 0.72 [{'connected_gene': 'MTURN', 'score': 5.32}, {'connected_gene': 'GC07P030172', 'score': 0.77}, {'connected_gene': 'LOC105375217', 'score': 0.44}]
chr7 GH07I030123 30123298 30125565 0.2 [{'connected_gene': 'MTURN', 'score': 12.75}, {'connected_gene': 'ENSG00000283618', 'score': 0.44}, {'connected_gene': 'LOC105375216', 'score': 0.39}, {'connected_gene': 'PLEKHA8', 'score': 0.15}]
chr7 GH07I030133 30133936 30136801 2.17 [{'connected_gene': 'MTURN', 'score': 560.66}, {'connected_gene': 'LOC105375216', 'score': 550.77}, {'connected_gene': 'ENSG00000226874', 'score': 12.46}, {'connected_gene': 'DKFZP586I1420', 'score': 11.65}, {'connected_gene': 'ENSG00000263683', 'score': 9.94}, {'connected_gene': 'PLEKHA8', 'score': 9.1}, {'connected_gene': 'ENSG00000230751', 'score': 0.44}]
chr7 GH07I030148 30148305 30150157 1.09 [{'connected_gene': 'MTURN', 'score': 5.63}, {'connected_gene': 'ENSG00000244480', 'score': 5.48}, {'connected_gene': 'ENSG00000230751', 'score': 0.44}, {'connected_gene': 'ENSG00000251660', 'score': 0.44}]
chr7 GH07I030141 30141495 30144451 1.25 [{'connected_gene': 'MTURN', 'score': 11.39}, {'connected_gene': 'ENSG00000230751', 'score': 0.77}, {'connected_gene': 'ENSG00000251660', 'score': 0.39}]
chr7 GH07I030181 30181325 30182709 0.2 [{'connected_gene': 'LOC105375217', 'score': 550.77}, {'connected_gene': 'MTURN', 'score': 5.12}, {'connected_gene': 'GC07P030172', 'score': 0.44}]
chr7 GH07I029953 29953384 29954420 0.31 [{'connected_gene': 'LOC105375215', 'score': 12.63}, {'connected_gene': 'SCRN1', 'score': 12.61}, {'connected_gene': 'MTURN', 'score': 11.4}, {'connected_gene': 'PLEKHA8', 'score': 11.12}, {'connected_gene': 'FKBP14', 'score': 11.12}, {'connected_gene': 'ENSG00000238906', 'score': 11.02}, {'connected_gene': 'ENSG00000231519', 'score': 10.59}, {'connected_gene': 'PIR51591', 'score': 0.37}, {'connected_gene': 'PIR47202', 'score': 0.28}]
chr7 GH07I030023 30023401 30023600 0.54 [{'connected_gene': 'RPS27P16', 'score': 15.82}, {'connected_gene': 'MTURN', 'score': 14.15}, {'connected_gene': 'FKBP14', 'score': 0.77}, {'connected_gene': 'SCRN1', 'score': 0.29}, {'connected_gene': 'LOC105375215', 'score': 0.28}]
chr7 GH07I030145 30145588 30147712 1.13 [{'connected_gene': 'RPS27P16', 'score': 16.05}, {'connected_gene': 'MTURN', 'score': 9.35}, {'connected_gene': 'ENSG00000230751', 'score': 0.44}, {'connected_gene': 'ENSG00000251660', 'score': 0.39}]
chr7 GH07I029986 29986992 29990694 2 [{'connected_gene': 'PIR35583', 'score': 550.77}, {'connected_gene': 'SCRN1', 'score': 550.77}, {'connected_gene': 'LOC105375215', 'score': 550.77}, {'connected_gene': 'MTURN', 'score': 14.12}]
chr7 GH07I029856 29856400 29860134 0.94 [{'connected_gene': 'ENSG00000238906', 'score': 10.62}, {'connected_gene': 'WIPF3', 'score': 5.56}, {'connected_gene': 'MTURN', 'score': 4.44}, {'connected_gene': 'GC07P029912', 'score': 0.23}]
chr7 GH07I030872 30872756 30874647 0.31 [{'connected_gene': 'ENSG00000250424', 'score': 12.21}, {'connected_gene': 'AQP1', 'score': 12.15}, {'connected_gene': 'MINDY4', 'score': 12.02}, {'connected_gene': 'MTURN', 'score': 5.32}, {'connected_gene': 'PIR34848', 'score': 0.37}, {'connected_gene': 'INMT-MINDY4', 'score': 0.13}]
chr7 GH07I030168 30168047 30174457 1.54 [{'connected_gene': 'GC07P030172', 'score': 550.77}, {'connected_gene': 'ZNRF2', 'score': 20.41}, {'connected_gene': 'MIR550A1', 'score': 12.1}, {'connected_gene': 'NOD1', 'score': 11.06}, {'connected_gene': 'MTURN', 'score': 5.46}, {'connected_gene': 'LOC105375217', 'score': 4.9}, {'connected_gene': 'RPS27P16', 'score': 0.77}]
chr7 GH07I029912 29912296 29912527 0.22 [{'connected_gene': 'ENSG00000238906', 'score': 550.77}, {'connected_gene': 'GC07P029912', 'score': 550.77}, {'connected_gene': 'ZNRF2', 'score': 3.01}, {'connected_gene': 'MTURN', 'score': 1.97}, {'connected_gene': 'WIPF3', 'score': 0.14}]
chr7 GH07I030113 30113913 30115505 0.46 [{'connected_gene': 'ENSG00000283618', 'score': 550.77}, {'connected_gene': 'MTURN', 'score': 16.71}, {'connected_gene': 'PLEKHA8', 'score': 13.16}, {'connected_gene': 'PIR63011', 'score': 0.34}]
chr7 GH07I030154 30154149 30156737 0.85 [{'connected_gene': 'ENSG00000263683', 'score': 9.94}, {'connected_gene': 'MTURN', 'score': 4.68}, {'connected_gene': 'ENSG00000251660', 'score': 0.77}, {'connected_gene': 'ENSG00000230751', 'score': 0.39}]
chr7 GH07I030137 30137069 30137595 0.52 [{'connected_gene': 'ENSG00000230751', 'score': 0.77}, {'connected_gene': 'MTURN', 'score': 0.77}]
chr7 GH07I030144 30144745 30144894 0.63 [{'connected_gene': 'ENSG00000230751', 'score': 0.77}, {'connected_gene': 'MTURN', 'score': 0.39}, {'connected_gene': 'ENSG00000251660', 'score': 0.39}]
chr7 GH07I030157 30157043 30157873 0.4 [{'connected_gene': 'ENSG00000251660', 'score': 550.77}, {'connected_gene': 'ENSG00000230751', 'score': 0.37}, {'connected_gene': 'MTURN', 'score': 0.34}]
chr7 GH07I030139 30139650 30140842 0.4 [{'connected_gene': 'ENSG00000230751', 'score': 550.77}, {'connected_gene': 'MTURN', 'score': 0.44}]

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