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
ENST00000359894 [[812517, 813895], [814433, 814749], [814885, 815081], [815185, 815327], [815665, 815851], [821484, 821585], [821914, 821952]] [[812569, 813895], [814433, 814749], [814885, 815081], [815185, 815327], [815665, 815851], [821484, 821559]]
ENST00000520876 [[812517, 813895], [814433, 814607], [814691, 814749], [814885, 815081], [815185, 815327], [815665, 815851], [821484, 821585], [821914, 821967]] [[812569, 813895], [814433, 814607], [814691, 814749], [814885, 815081], [815185, 815327], [815665, 815851], [821484, 821559]]
ENST00000517665 [[813757, 813895], [814433, 814571], [814691, 814749]] [[813757, 813895], [814433, 814571], [814691, 814749]]
ENST00000519502 [[815185, 815327], [815665, 815851], [821484, 821967]] [[815185, 815327], [815665, 815851], [821484, 821559]]
NM_024888 [[812487, 813895], [814433, 814749], [814885, 815081], [815185, 815327], [815665, 815851], [821484, 821585], [821914, 821952]] [[812569, 813895], [814433, 814749], [814885, 815081], [815185, 815327], [815665, 815851], [821484, 821559]]
NM_001270366 [[812487, 813895], [814433, 814607], [814691, 814749], [814885, 815081], [815185, 815327], [815665, 815851], [821484, 821585], [821914, 821952]] [[812569, 813895], [814433, 814607], [814691, 814749], [814885, 815081], [815185, 815327], [815665, 815851], [821484, 821559]]
Promoter
Chrom Start End Description
chr19 821910 821921 CAGE_peak_9_at_MIR3187_5end
chr19 821931 821981 CAGE_peak_1_at_MIR3187_5end
chr19 822044 822085 CAGE_peak_2_at_MIR3187_5end
chr19 822219 822240 CAGE_peak_5_at_MIR3187_5end
chr19 822261 822271 CAGE_peak_10_at_MIR3187_5end
chr19 822276 822295 CAGE_peak_6_at_MIR3187_5end
chr19 822320 822332 CAGE_peak_7_at_MIR3187_5end
chr19 822350 822377 CAGE_peak_3_at_MIR3187_5end
chr19 822429 822477 CAGE_peak_4_at_MIR3187_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I057381 57381140 57381199 0.61 [{'connected_gene': 'PRG3', 'score': 550.77}, {'connected_gene': 'PRG2', 'score': 0.44}]
chr11 GH11I057414 57414754 57415277 0.43 [{'connected_gene': 'PRG2', 'score': 11.66}, {'connected_gene': 'SLC43A1', 'score': 10.38}, {'connected_gene': 'SSRP1', 'score': 10.31}, {'connected_gene': 'P2RX3', 'score': 10.31}, {'connected_gene': 'ENSG00000254979', 'score': 0.44}, {'connected_gene': 'GC11M057408', 'score': 0.44}, {'connected_gene': 'SLC43A3', 'score': 0.39}]
chr11 GH11I057365 57365147 57365336 0.46 [{'connected_gene': 'PRG2', 'score': 12.24}, {'connected_gene': 'P2RX3', 'score': 11.46}, {'connected_gene': 'SSRP1', 'score': 11.46}, {'connected_gene': 'RN7SKP259', 'score': 11.1}, {'connected_gene': 'RTN4RL2', 'score': 11.08}, {'connected_gene': 'ENSG00000254979', 'score': 10.94}, {'connected_gene': 'SLC43A3', 'score': 10.93}, {'connected_gene': 'ENSG00000254662', 'score': 10.72}, {'connected_gene': 'TNKS1BP1', 'score': 10.7}, {'connected_gene': 'SLC43A1', 'score': 10.42}, {'connected_gene': 'CLP1', 'score': 9.44}, {'connected_gene': 'YPEL4', 'score': 9.44}, {'connected_gene': 'ENSG00000254602', 'score': 9.44}, {'connected_gene': 'PRG3', 'score': 0.37}]
chr11 GH11I057357 57357775 57360556 0.84 [{'connected_gene': 'PRG2', 'score': 20.78}, {'connected_gene': 'P2RX3', 'score': 15.61}, {'connected_gene': 'ENSG00000254979', 'score': 11.71}, {'connected_gene': 'SLC43A3', 'score': 11.71}, {'connected_gene': 'SSRP1', 'score': 11.49}, {'connected_gene': 'RN7SKP259', 'score': 11.23}, {'connected_gene': 'RTN4RL2', 'score': 11.21}, {'connected_gene': 'ENSG00000254662', 'score': 10.74}, {'connected_gene': 'TNKS1BP1', 'score': 10.74}, {'connected_gene': 'SLC43A1', 'score': 10.41}, {'connected_gene': 'TIMM10', 'score': 10.17}, {'connected_gene': 'CLP1', 'score': 9.44}, {'connected_gene': 'ENSG00000254602', 'score': 9.44}, {'connected_gene': 'YPEL4', 'score': 9.44}, {'connected_gene': 'BTBD18', 'score': 8.96}, {'connected_gene': 'CTNND1', 'score': 8.96}, {'connected_gene': 'PRG3', 'score': 0.34}]
chr11 GH11I057368 57368628 57368777 0.52 [{'connected_gene': 'PRG2', 'score': 21.65}, {'connected_gene': 'ENSG00000254979', 'score': 11.24}, {'connected_gene': 'SLC43A3', 'score': 11.24}, {'connected_gene': 'P2RX3', 'score': 11.22}, {'connected_gene': 'SSRP1', 'score': 11.22}, {'connected_gene': 'RN7SKP259', 'score': 10.78}, {'connected_gene': 'RTN4RL2', 'score': 10.77}, {'connected_gene': 'ENSG00000254662', 'score': 10.56}, {'connected_gene': 'TNKS1BP1', 'score': 10.56}, {'connected_gene': 'TIMM10', 'score': 10.35}, {'connected_gene': 'PRG3', 'score': 0.39}]
chr11 GH11I057390 57390637 57390696 0.84 [{'connected_gene': 'PRG2', 'score': 550.77}, {'connected_gene': 'LOC105369312', 'score': 0.39}, {'connected_gene': 'ENSG00000254979', 'score': 0.29}]
chr11 GH11I057438 57438249 57439269 0.72 [{'connected_gene': 'SSRP1', 'score': 10.71}, {'connected_gene': 'P2RX3', 'score': 10.71}, {'connected_gene': 'SLC43A3', 'score': 10.25}, {'connected_gene': 'PRG2', 'score': 4.51}, {'connected_gene': 'RNA5SP341', 'score': 0.39}]
chr11 GH11I057395 57395574 57396970 0.86 [{'connected_gene': 'SSRP1', 'score': 24.34}, {'connected_gene': 'SLC43A3', 'score': 16.53}, {'connected_gene': 'CLP1', 'score': 12.97}, {'connected_gene': 'PRG2', 'score': 11.61}, {'connected_gene': 'ENSG00000254979', 'score': 11.16}, {'connected_gene': 'TIMM10', 'score': 10.77}, {'connected_gene': 'RN7SKP259', 'score': 10.74}, {'connected_gene': 'RTN4RL2', 'score': 10.73}, {'connected_gene': 'ENSG00000254662', 'score': 10.42}, {'connected_gene': 'TNKS1BP1', 'score': 10.42}, {'connected_gene': 'ZDHHC5', 'score': 10.3}, {'connected_gene': 'P2RX3', 'score': 10.23}, {'connected_gene': 'MIR130A', 'score': 9.52}, {'connected_gene': 'LOC105369312', 'score': 0.44}]
chr19 GH19I000823 823464 823960 1.19 [{'connected_gene': 'AZU1', 'score': 573.21}, {'connected_gene': 'PLPPR3', 'score': 562.97}, {'connected_gene': 'GC19P000823', 'score': 550.77}, {'connected_gene': 'PRTN3', 'score': 12.42}, {'connected_gene': 'ELANE', 'score': 8.01}, {'connected_gene': 'PRSS57', 'score': 3.1}, {'connected_gene': 'BSG', 'score': 1.9}, {'connected_gene': 'PTBP1', 'score': 1.69}]
chr19 GH19I000824 824280 824566 0.57 [{'connected_gene': 'AZU1', 'score': 550.77}, {'connected_gene': 'GC19P000823', 'score': 550.77}, {'connected_gene': 'PLPPR3', 'score': 550.77}]
chr11 GH11I057416 57416102 57417722 0.2 [{'connected_gene': 'RTN4RL2', 'score': 17.68}, {'connected_gene': 'RN7SKP259', 'score': 11.23}, {'connected_gene': 'PRG2', 'score': 10.61}, {'connected_gene': 'P2RX3', 'score': 10.04}, {'connected_gene': 'SSRP1', 'score': 10.04}, {'connected_gene': 'SLC43A3', 'score': 5.02}, {'connected_gene': 'ENSG00000254979', 'score': 0.44}, {'connected_gene': 'GC11M057408', 'score': 0.44}]
chr11 GH11I057423 57423654 57428549 2.24 [{'connected_gene': 'SLC43A3', 'score': 550.77}, {'connected_gene': 'SSRP1', 'score': 30.53}, {'connected_gene': 'CTNND1', 'score': 12.13}, {'connected_gene': 'TIMM10', 'score': 10.38}, {'connected_gene': 'PRG2', 'score': 9.32}, {'connected_gene': 'RTN4RL2', 'score': 8.63}, {'connected_gene': 'SMTNL1', 'score': 5.15}, {'connected_gene': 'APLNR', 'score': 4.63}, {'connected_gene': 'ENSG00000254979', 'score': 0.77}]
chr19 GH19I000479 479872 480698 1.38 [{'connected_gene': 'DAZAP1', 'score': 108.17}, {'connected_gene': 'TMEM259', 'score': 95.64}, {'connected_gene': 'PTBP1', 'score': 86.84}, {'connected_gene': 'ENSG00000267317', 'score': 77.11}, {'connected_gene': 'MIER2', 'score': 50.16}, {'connected_gene': 'GRIN3B', 'score': 31.46}, {'connected_gene': 'MED16', 'score': 28.78}, {'connected_gene': 'CNN2', 'score': 28.26}, {'connected_gene': 'RPS15', 'score': 19.96}, {'connected_gene': 'RNF126', 'score': 19.41}, {'connected_gene': 'CIRBP', 'score': 18.84}, {'connected_gene': 'CFD', 'score': 14.79}, {'connected_gene': 'SBNO2', 'score': 12.97}, {'connected_gene': 'STK11', 'score': 10.57}, {'connected_gene': 'MIDN', 'score': 10.38}, {'connected_gene': 'FSTL3', 'score': 9.82}, {'connected_gene': 'APC2', 'score': 9.76}, {'connected_gene': 'PLPPR3', 'score': 9.72}, {'connected_gene': 'ODF3L2', 'score': 0.44}, {'connected_gene': 'MADCAM1', 'score': 0.44}]
chr11 GH11I057529 57529426 57531952 2.07 [{'connected_gene': 'TIMM10', 'score': 550.77}, {'connected_gene': 'PIR40820', 'score': 550.77}, {'connected_gene': 'PIR39300', 'score': 550.77}, {'connected_gene': 'SSRP1', 'score': 25.02}, {'connected_gene': 'CLP1', 'score': 23.85}, {'connected_gene': 'MIR130A', 'score': 11.54}, {'connected_gene': 'UBE2L6', 'score': 11.15}, {'connected_gene': 'RPS4XP13', 'score': 11.12}, {'connected_gene': 'ENSG00000254602', 'score': 10.97}, {'connected_gene': 'YPEL4', 'score': 10.95}, {'connected_gene': 'P2RX3', 'score': 10.91}, {'connected_gene': 'RTN4RL2', 'score': 10.72}, {'connected_gene': 'RN7SKP259', 'score': 10.71}, {'connected_gene': 'SLC43A3', 'score': 10.5}, {'connected_gene': 'ENSG00000254979', 'score': 10.5}, {'connected_gene': 'SERPING1', 'score': 10.39}, {'connected_gene': 'ZDHHC5', 'score': 10.35}, {'connected_gene': 'PRG2', 'score': 9.57}, {'connected_gene': 'MED19', 'score': 5.34}]
chr11 GH11I057126 57126529 57127978 0.85 [{'connected_gene': 'APLNR', 'score': 4.92}, {'connected_gene': 'PRG2', 'score': 4.72}, {'connected_gene': 'GC11P057137', 'score': 0.44}, {'connected_gene': 'OR5BP1P', 'score': 0.19}, {'connected_gene': 'GC11P056979', 'score': 0.11}]
chr11 GH11I057190 57190866 57192669 0.38 [{'connected_gene': 'APLNR', 'score': 11.21}, {'connected_gene': 'PRG2', 'score': 5.65}, {'connected_gene': 'GC11P057188', 'score': 0.77}, {'connected_gene': 'LRRC55', 'score': 0.39}, {'connected_gene': 'LOC105369309', 'score': 0.28}]
chr11 GH11I057195 57195321 57197941 0.38 [{'connected_gene': 'APLNR', 'score': 11.29}, {'connected_gene': 'PRG2', 'score': 5.62}, {'connected_gene': 'GC11P057188', 'score': 0.44}, {'connected_gene': 'LOC105369309', 'score': 0.29}]
chr11 GH11I057233 57233340 57238152 1.67 [{'connected_gene': 'APLNR', 'score': 555.8}, {'connected_gene': 'SSRP1', 'score': 5.34}, {'connected_gene': 'PRG2', 'score': 4.68}, {'connected_gene': 'LOC105369309', 'score': 0.77}]
chr11 GH11I057155 57155564 57157019 0.87 [{'connected_gene': 'APLNR', 'score': 15.22}, {'connected_gene': 'LRRC55', 'score': 11.89}, {'connected_gene': 'PRG2', 'score': 5.43}, {'connected_gene': 'GC11P057137', 'score': 0.37}]
chr11 GH11I057403 57403199 57404431 0.57 [{'connected_gene': 'LOC105369312', 'score': 550.77}, {'connected_gene': 'P2RX3', 'score': 15.01}, {'connected_gene': 'ENSG00000254979', 'score': 12.26}, {'connected_gene': 'SLC43A3', 'score': 12.26}, {'connected_gene': 'PRG2', 'score': 10.81}, {'connected_gene': 'RN7SKP259', 'score': 10.8}, {'connected_gene': 'RTN4RL2', 'score': 10.78}, {'connected_gene': 'SSRP1', 'score': 10.05}]
chr11 GH11I057402 57402268 57402839 1.05 [{'connected_gene': 'LOC105369312', 'score': 550.77}, {'connected_gene': 'ENSG00000254979', 'score': 11.36}, {'connected_gene': 'SLC43A3', 'score': 11.33}, {'connected_gene': 'RN7SKP259', 'score': 11.22}, {'connected_gene': 'RTN4RL2', 'score': 11.19}, {'connected_gene': 'P2RX3', 'score': 10.84}, {'connected_gene': 'SSRP1', 'score': 10.84}, {'connected_gene': 'PRG2', 'score': 0.39}]
chr11 GH11I057230 57230287 57232546 0.72 [{'connected_gene': 'LOC105369309', 'score': 550.77}, {'connected_gene': 'LRRC55', 'score': 10.61}, {'connected_gene': 'PRG2', 'score': 4.87}, {'connected_gene': 'GC11P057188', 'score': 0.26}]
chr11 GH11I057283 57283079 57284396 0.4 [{'connected_gene': 'ENSG00000254662', 'score': 10.19}, {'connected_gene': 'TNKS1BP1', 'score': 10.19}, {'connected_gene': 'SSRP1', 'score': 6.35}, {'connected_gene': 'PRG2', 'score': 5.09}, {'connected_gene': 'GC11P057311', 'score': 0.31}, {'connected_gene': 'APLNR', 'score': 0.25}]
chr19 GH19I000821 821200 822834 1.66 [{'connected_gene': 'GC19P000823', 'score': 550.77}, {'connected_gene': 'PLPPR3', 'score': 550.77}, {'connected_gene': 'MIR3187', 'score': 0.44}]
chr11 GH11I057355 57354927 57355076 0.31 [{'connected_gene': 'ENSG00000254979', 'score': 11.71}, {'connected_gene': 'SLC43A3', 'score': 11.69}, {'connected_gene': 'PRG2', 'score': 11.54}, {'connected_gene': 'ENSG00000254662', 'score': 10.75}, {'connected_gene': 'TNKS1BP1', 'score': 10.74}, {'connected_gene': 'CTNND1', 'score': 8.96}, {'connected_gene': 'BTBD18', 'score': 8.96}, {'connected_gene': 'P2RX3', 'score': 0.37}, {'connected_gene': 'PRG3', 'score': 0.31}]
chr11 GH11I057356 57356201 57356600 0.38 [{'connected_gene': 'ENSG00000254979', 'score': 11.71}, {'connected_gene': 'SLC43A3', 'score': 11.69}, {'connected_gene': 'PRG2', 'score': 11.56}, {'connected_gene': 'ENSG00000254662', 'score': 10.74}, {'connected_gene': 'TNKS1BP1', 'score': 10.74}, {'connected_gene': 'CTNND1', 'score': 8.96}, {'connected_gene': 'BTBD18', 'score': 8.96}, {'connected_gene': 'P2RX3', 'score': 5.23}, {'connected_gene': 'PRG3', 'score': 0.34}]
chr11 GH11I057354 57353167 57353316 0.38 [{'connected_gene': 'ENSG00000254979', 'score': 11.69}, {'connected_gene': 'SLC43A3', 'score': 11.69}, {'connected_gene': 'PRG2', 'score': 11.54}, {'connected_gene': 'ENSG00000254662', 'score': 10.75}, {'connected_gene': 'TNKS1BP1', 'score': 10.75}, {'connected_gene': 'CTNND1', 'score': 8.96}, {'connected_gene': 'BTBD18', 'score': 8.96}, {'connected_gene': 'P2RX3', 'score': 0.37}, {'connected_gene': 'PRG3', 'score': 0.31}]
chr11 GH11I057353 57353584 57353673 0.52 [{'connected_gene': 'ENSG00000254979', 'score': 11.69}, {'connected_gene': 'SLC43A3', 'score': 11.69}, {'connected_gene': 'PRG2', 'score': 11.54}, {'connected_gene': 'ENSG00000254662', 'score': 10.75}, {'connected_gene': 'TNKS1BP1', 'score': 10.75}, {'connected_gene': 'CTNND1', 'score': 8.96}, {'connected_gene': 'BTBD18', 'score': 8.96}, {'connected_gene': 'P2RX3', 'score': 4.71}, {'connected_gene': 'PRG3', 'score': 0.31}]
chr11 GH11I057405 57405575 57407957 1.47 [{'connected_gene': 'GC11M057408', 'score': 550.77}, {'connected_gene': 'SLC43A3', 'score': 23.71}, {'connected_gene': 'P2RX3', 'score': 14.77}, {'connected_gene': 'RN7SKP259', 'score': 11.4}, {'connected_gene': 'RTN4RL2', 'score': 11.37}, {'connected_gene': 'SSRP1', 'score': 10.82}, {'connected_gene': 'PRG2', 'score': 10.48}, {'connected_gene': 'TIMM10', 'score': 4.28}, {'connected_gene': 'UBE2L6', 'score': 1.54}, {'connected_gene': 'ZDHHC5', 'score': 1.32}, {'connected_gene': 'LOC105369312', 'score': 0.77}, {'connected_gene': 'ENSG00000254979', 'score': 0.37}]
chr11 GH11I057396 57396978 57397648 0.46 [{'connected_gene': 'ENSG00000254979', 'score': 11.16}, {'connected_gene': 'SLC43A3', 'score': 11.14}, {'connected_gene': 'TIMM10', 'score': 10.77}, {'connected_gene': 'RN7SKP259', 'score': 10.75}, {'connected_gene': 'RTN4RL2', 'score': 10.73}, {'connected_gene': 'ENSG00000254662', 'score': 10.42}, {'connected_gene': 'TNKS1BP1', 'score': 10.42}, {'connected_gene': 'P2RX3', 'score': 10.23}, {'connected_gene': 'SSRP1', 'score': 10.23}, {'connected_gene': 'MIR130A', 'score': 9.52}, {'connected_gene': 'LOC105369312', 'score': 0.44}, {'connected_gene': 'PRG2', 'score': 0.44}]
chr11 GH11I057408 57408408 57408854 0.43 [{'connected_gene': 'GC11M057408', 'score': 550.77}, {'connected_gene': 'RN7SKP259', 'score': 10.88}, {'connected_gene': 'RTN4RL2', 'score': 10.85}, {'connected_gene': 'P2RX3', 'score': 10.47}, {'connected_gene': 'SSRP1', 'score': 10.47}, {'connected_gene': 'PRG2', 'score': 6.54}, {'connected_gene': 'LOC105369312', 'score': 0.77}, {'connected_gene': 'ENSG00000254979', 'score': 0.37}, {'connected_gene': 'SLC43A3', 'score': 0.37}]

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