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
ENST00000374027 [[27705665, 27706685], [27708269, 27708314], [27708817, 27708889], [27708989, 27709157], [27709641, 27709793]] [[27706536, 27706685], [27708269, 27708314], [27708817, 27708889], [27708989, 27709157], [27709641, 27709729]]
ENST00000374030 [[27705665, 27705999], [27706540, 27706685], [27708269, 27708314], [27708817, 27708889], [27708989, 27709157], [27709641, 27709870]] [[27705992, 27705999], [27706540, 27706685], [27708269, 27708314], [27708817, 27708889], [27708989, 27709157], [27709641, 27709729]]
ENST00000374025 [[27708265, 27708889], [27708989, 27709157], [27709641, 27709796]] [[27708629, 27708889], [27708989, 27709157], [27709641, 27709729]]
NM_207397 [[27705665, 27706685], [27708269, 27708314], [27708817, 27708889], [27708989, 27709157], [27709641, 27709823]] [[27706536, 27706685], [27708269, 27708314], [27708817, 27708889], [27708989, 27709157], [27709641, 27709729]]
NM_001330448 [[27705665, 27705999], [27706540, 27706685], [27708269, 27708314], [27708817, 27708889], [27708989, 27709157], [27709641, 27709823]] [[27705992, 27705999], [27706540, 27706685], [27708269, 27708314], [27708817, 27708889], [27708989, 27709157], [27709641, 27709729]]
Promoter
Chrom Start End Description
chr1 27709799 27709810 CAGE_peak_2_at_CD164L2_5end
chr1 27709816 27709829 CAGE_peak_1_at_CD164L2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I027374 27374814 27374873 0.61 [{'connected_gene': 'FCN3', 'score': 550.77}, {'connected_gene': 'CD164L2', 'score': 0.44}]
chr1 GH01I027535 27535038 27547054 1.78 [{'connected_gene': 'ARID1A', 'score': 39.78}, {'connected_gene': 'FAM76A', 'score': 31.13}, {'connected_gene': 'ACTG1P20', 'score': 26.0}, {'connected_gene': 'ENSG00000231344', 'score': 18.65}, {'connected_gene': 'RCC1', 'score': 12.04}, {'connected_gene': 'WASF2', 'score': 11.92}, {'connected_gene': 'GPN2', 'score': 11.91}, {'connected_gene': 'LOC101928728', 'score': 11.68}, {'connected_gene': 'NPM1P39', 'score': 11.49}, {'connected_gene': 'GPATCH3', 'score': 11.42}, {'connected_gene': 'MAP3K6', 'score': 11.04}, {'connected_gene': 'PHACTR4', 'score': 10.59}, {'connected_gene': 'CD164L2', 'score': 10.44}, {'connected_gene': 'ENSG00000243659', 'score': 10.17}, {'connected_gene': 'EYA3', 'score': 9.76}, {'connected_gene': 'LOC105376892', 'score': 0.37}, {'connected_gene': 'GC01P027602', 'score': 0.21}, {'connected_gene': 'AHDC1', 'score': 0.21}]
chr1 GH01I027559 27559620 27578745 1.72 [{'connected_gene': 'ACTG1P20', 'score': 35.44}, {'connected_gene': 'ARID1A', 'score': 27.54}, {'connected_gene': 'TMEM222', 'score': 21.67}, {'connected_gene': 'GPN2', 'score': 18.55}, {'connected_gene': 'TRNAU1AP', 'score': 15.6}, {'connected_gene': 'NPM1P39', 'score': 15.06}, {'connected_gene': 'EYA3', 'score': 13.85}, {'connected_gene': 'MAP3K6', 'score': 13.08}, {'connected_gene': 'AHDC1', 'score': 12.56}, {'connected_gene': 'FAM76A', 'score': 12.52}, {'connected_gene': 'ENSG00000231344', 'score': 12.36}, {'connected_gene': 'WASF2', 'score': 11.41}, {'connected_gene': 'GPATCH3', 'score': 10.84}, {'connected_gene': 'PHACTR4', 'score': 10.76}, {'connected_gene': 'RNU6-48P', 'score': 10.51}, {'connected_gene': 'SNORA73B', 'score': 10.12}, {'connected_gene': 'CD164L2', 'score': 7.32}, {'connected_gene': 'PTAFR', 'score': 4.27}, {'connected_gene': 'GC01P027602', 'score': 0.29}, {'connected_gene': 'LOC105376892', 'score': 0.25}]
chr1 GH01I027425 27425965 27439599 1.7 [{'connected_gene': 'ACTG1P20', 'score': 21.45}, {'connected_gene': 'CD164L2', 'score': 20.56}, {'connected_gene': 'WASF2', 'score': 13.15}, {'connected_gene': 'FGR', 'score': 12.91}, {'connected_gene': 'LOC105376892', 'score': 12.37}, {'connected_gene': 'ARID1A', 'score': 11.03}, {'connected_gene': 'FAM76A', 'score': 10.83}, {'connected_gene': 'RNU6-48P', 'score': 10.79}, {'connected_gene': 'TMEM222', 'score': 10.78}, {'connected_gene': 'PHACTR4', 'score': 10.3}, {'connected_gene': 'RNU6-1245P', 'score': 9.27}, {'connected_gene': 'PPP1R8', 'score': 9.27}, {'connected_gene': 'SCARNA1', 'score': 9.27}, {'connected_gene': 'THEMIS2', 'score': 8.99}, {'connected_gene': 'STX12', 'score': 4.27}, {'connected_gene': 'PIR40118', 'score': 0.37}, {'connected_gene': 'ENSG00000241169', 'score': 0.34}]
chr1 GH01I027382 27382723 27384033 1.13 [{'connected_gene': 'CD164L2', 'score': 569.04}, {'connected_gene': 'FCN3', 'score': 0.44}]
chr1 GH01I027548 27548104 27553407 0.62 [{'connected_gene': 'CD164L2', 'score': 10.02}, {'connected_gene': 'LOC105376892', 'score': 0.31}, {'connected_gene': 'GC01P027602', 'score': 0.23}, {'connected_gene': 'AHDC1', 'score': 0.23}]
chr1 GH01I027445 27445305 27445842 1.02 [{'connected_gene': 'CD164L2', 'score': 20.2}, {'connected_gene': 'LOC105376892', 'score': 11.76}, {'connected_gene': 'WASF2', 'score': 11.51}, {'connected_gene': 'ACTG1P20', 'score': 10.36}, {'connected_gene': 'RNU6-48P', 'score': 10.36}, {'connected_gene': 'TMEM222', 'score': 10.36}, {'connected_gene': 'ENSG00000241169', 'score': 0.39}, {'connected_gene': 'PIR40118', 'score': 0.29}]
chr1 GH01I027441 27441985 27443511 0.74 [{'connected_gene': 'CD164L2', 'score': 18.19}, {'connected_gene': 'LOC105376892', 'score': 11.76}, {'connected_gene': 'WASF2', 'score': 11.5}, {'connected_gene': 'ACTG1P20', 'score': 10.36}, {'connected_gene': 'RNU6-48P', 'score': 10.36}, {'connected_gene': 'TMEM222', 'score': 10.36}, {'connected_gene': 'ENSG00000241169', 'score': 0.39}, {'connected_gene': 'PIR40118', 'score': 0.31}]
chr1 GH01I027459 27459111 27461337 0.54 [{'connected_gene': 'CD164L2', 'score': 20.18}, {'connected_gene': 'LOC105376892', 'score': 12.56}, {'connected_gene': 'WASF2', 'score': 12.26}, {'connected_gene': 'ENSG00000243659', 'score': 10.22}, {'connected_gene': 'ACTG1P20', 'score': 9.77}, {'connected_gene': 'RNU6-48P', 'score': 9.77}, {'connected_gene': 'TMEM222', 'score': 9.77}, {'connected_gene': 'ENSG00000241169', 'score': 0.77}]
chr1 GH01I027415 27415815 27420360 1.24 [{'connected_gene': 'CD164L2', 'score': 17.19}, {'connected_gene': 'LOC105376892', 'score': 12.34}, {'connected_gene': 'WASF2', 'score': 12.27}, {'connected_gene': 'ENSG00000225886', 'score': 11.29}, {'connected_gene': 'ENSG00000243659', 'score': 10.46}, {'connected_gene': 'PIR40118', 'score': 0.77}, {'connected_gene': 'ENSG00000241169', 'score': 0.28}]
chr1 GH01I027473 27473601 27475200 0.79 [{'connected_gene': 'CD164L2', 'score': 17.77}, {'connected_gene': 'LOC105376892', 'score': 12.6}, {'connected_gene': 'ENSG00000241169', 'score': 0.37}, {'connected_gene': 'WASF2', 'score': 0.37}]
chr1 GH01I027471 27471401 27472000 0.51 [{'connected_gene': 'CD164L2', 'score': 18.14}, {'connected_gene': 'LOC105376892', 'score': 12.58}, {'connected_gene': 'ENSG00000241169', 'score': 0.39}, {'connected_gene': 'WASF2', 'score': 0.37}]
chr1 GH01I027472 27472201 27472800 0.4 [{'connected_gene': 'CD164L2', 'score': 19.97}, {'connected_gene': 'LOC105376892', 'score': 12.58}, {'connected_gene': 'ENSG00000241169', 'score': 0.37}, {'connected_gene': 'WASF2', 'score': 0.37}]
chr1 GH01I027467 27467881 27470933 0.49 [{'connected_gene': 'CD164L2', 'score': 17.77}, {'connected_gene': 'WASF2', 'score': 12.87}, {'connected_gene': 'LOC105376892', 'score': 12.58}, {'connected_gene': 'PPP1R8', 'score': 11.14}, {'connected_gene': 'FAM76A', 'score': 11.13}, {'connected_gene': 'DNAJC8', 'score': 9.96}, {'connected_gene': 'TMEM222', 'score': 9.91}, {'connected_gene': 'ENSG00000231344', 'score': 5.36}, {'connected_gene': 'ENSG00000241169', 'score': 0.39}]
chr1 GH01I027446 27446930 27448556 0.38 [{'connected_gene': 'CD164L2', 'score': 13.61}, {'connected_gene': 'WASF2', 'score': 12.41}, {'connected_gene': 'LOC105376892', 'score': 11.66}, {'connected_gene': 'ENSG00000231207', 'score': 10.97}, {'connected_gene': 'GPR3', 'score': 10.97}, {'connected_gene': 'TMEM222', 'score': 10.4}, {'connected_gene': 'ACTG1P20', 'score': 10.4}, {'connected_gene': 'RNU6-48P', 'score': 10.4}, {'connected_gene': 'ENSG00000243659', 'score': 9.86}, {'connected_gene': 'SCARNA1', 'score': 9.46}, {'connected_gene': 'RNU6-1245P', 'score': 9.46}, {'connected_gene': 'PPP1R8', 'score': 9.46}, {'connected_gene': 'ENSG00000241169', 'score': 0.44}, {'connected_gene': 'PIR40118', 'score': 0.29}]
chr1 GH01I027423 27423352 27425561 0.31 [{'connected_gene': 'CD164L2', 'score': 13.67}, {'connected_gene': 'WASF2', 'score': 11.84}, {'connected_gene': 'LOC105376892', 'score': 11.54}, {'connected_gene': 'SFN', 'score': 5.22}, {'connected_gene': 'PIR40118', 'score': 0.44}, {'connected_gene': 'ENSG00000241169', 'score': 0.29}]
chr1 GH01I027420 27420402 27421482 0.2 [{'connected_gene': 'CD164L2', 'score': 13.68}, {'connected_gene': 'WASF2', 'score': 11.84}, {'connected_gene': 'LOC105376892', 'score': 11.53}, {'connected_gene': 'PIR40118', 'score': 0.44}, {'connected_gene': 'ENSG00000241169', 'score': 0.28}]
chr1 GH01I027421 27421569 27423012 1 [{'connected_gene': 'CD164L2', 'score': 15.94}, {'connected_gene': 'WASF2', 'score': 11.84}, {'connected_gene': 'LOC105376892', 'score': 11.53}, {'connected_gene': 'PIR40118', 'score': 0.44}, {'connected_gene': 'ENSG00000241169', 'score': 0.29}]
chr1 GH01I027464 27464231 27466748 0.46 [{'connected_gene': 'CD164L2', 'score': 19.67}, {'connected_gene': 'WASF2', 'score': 12.87}, {'connected_gene': 'ENSG00000241169', 'score': 0.44}]
chr1 GH01I027486 27486401 27487400 0.38 [{'connected_gene': 'CD164L2', 'score': 17.27}, {'connected_gene': 'WASF2', 'score': 0.77}, {'connected_gene': 'ENSG00000241169', 'score': 0.31}]
chr1 GH01I027496 27496502 27497649 1.16 [{'connected_gene': 'CD164L2', 'score': 17.4}, {'connected_gene': 'WASF2', 'score': 0.44}, {'connected_gene': 'GC01M027515', 'score': 0.37}]
chr1 GH01I027477 27477916 27478989 0.76 [{'connected_gene': 'CD164L2', 'score': 17.02}, {'connected_gene': 'WASF2', 'score': 0.39}, {'connected_gene': 'ENSG00000241169', 'score': 0.34}]
chr1 GH01I027502 27502378 27506204 1.34 [{'connected_gene': 'CD164L2', 'score': 13.45}, {'connected_gene': 'WASF2', 'score': 0.39}, {'connected_gene': 'GC01M027515', 'score': 0.39}]
chr1 GH01I027481 27481543 27483395 0.54 [{'connected_gene': 'CD164L2', 'score': 18.08}, {'connected_gene': 'WASF2', 'score': 0.44}, {'connected_gene': 'ENSG00000241169', 'score': 0.31}]
chr1 GH01I027483 27483423 27484724 0.43 [{'connected_gene': 'CD164L2', 'score': 16.93}, {'connected_gene': 'WASF2', 'score': 0.44}, {'connected_gene': 'ENSG00000241169', 'score': 0.31}]
chr1 GH01I027513 27513420 27514399 1.12 [{'connected_gene': 'CD164L2', 'score': 13.97}, {'connected_gene': 'GC01M027515', 'score': 0.77}, {'connected_gene': 'WASF2', 'score': 0.34}]
chr1 GH01I027508 27508797 27510563 0.63 [{'connected_gene': 'CD164L2', 'score': 9.95}, {'connected_gene': 'GC01M027515', 'score': 0.44}, {'connected_gene': 'WASF2', 'score': 0.37}]
chr1 GH01I027506 27506293 27507530 0.38 [{'connected_gene': 'CD164L2', 'score': 16.83}, {'connected_gene': 'GC01M027515', 'score': 0.44}, {'connected_gene': 'WASF2', 'score': 0.37}]
chr1 GH01I027391 27391031 27396066 2.45 [{'connected_gene': 'GPR3', 'score': 550.77}, {'connected_gene': 'CD164L2', 'score': 20.94}, {'connected_gene': 'EYA3', 'score': 13.84}, {'connected_gene': 'GPATCH3', 'score': 10.86}, {'connected_gene': 'ARID1A', 'score': 10.74}, {'connected_gene': 'DNAJC8', 'score': 10.63}, {'connected_gene': 'PHACTR4', 'score': 9.69}, {'connected_gene': 'PIR34425', 'score': 0.39}, {'connected_gene': 'GC01M027441', 'score': 0.39}]
chr1 GH01I027596 27596981 27605339 2.5 [{'connected_gene': 'AHDC1', 'score': 553.33}, {'connected_gene': 'GC01P027602', 'score': 550.77}, {'connected_gene': 'GPN2', 'score': 32.33}, {'connected_gene': 'ARID1A', 'score': 28.61}, {'connected_gene': 'ACTG1P20', 'score': 21.93}, {'connected_gene': 'LOC101928728', 'score': 20.41}, {'connected_gene': 'FAM76A', 'score': 19.92}, {'connected_gene': 'DNAJC8', 'score': 19.22}, {'connected_gene': 'EYA3', 'score': 18.2}, {'connected_gene': 'PIGV', 'score': 13.67}, {'connected_gene': 'RCC1', 'score': 12.04}, {'connected_gene': 'LOC105376892', 'score': 11.97}, {'connected_gene': 'TRNAU1AP', 'score': 11.57}, {'connected_gene': 'GPATCH3', 'score': 11.42}, {'connected_gene': 'SNHG12', 'score': 10.19}, {'connected_gene': 'ENSG00000231344', 'score': 10.04}, {'connected_gene': 'CD164L2', 'score': 7.12}, {'connected_gene': 'XKR8', 'score': 1.6}]
chr1 GH01I027554 27554130 27559150 1.39 [{'connected_gene': 'AHDC1', 'score': 12.53}, {'connected_gene': 'WASF2', 'score': 11.43}, {'connected_gene': 'ACTG1P20', 'score': 10.16}, {'connected_gene': 'RNU6-48P', 'score': 10.16}, {'connected_gene': 'TMEM222', 'score': 10.16}, {'connected_gene': 'CD164L2', 'score': 7.83}, {'connected_gene': 'LOC105376892', 'score': 0.29}, {'connected_gene': 'GC01P027602', 'score': 0.25}]
chr1 GH01I027516 27516970 27530656 2.33 [{'connected_gene': 'LOC105376892', 'score': 550.77}, {'connected_gene': 'ARID1A', 'score': 69.38}, {'connected_gene': 'ACTG1P20', 'score': 67.31}, {'connected_gene': 'MAP3K6', 'score': 41.06}, {'connected_gene': 'FAM76A', 'score': 35.16}, {'connected_gene': 'PHACTR4', 'score': 30.98}, {'connected_gene': 'NPM1P39', 'score': 30.87}, {'connected_gene': 'EYA3', 'score': 30.47}, {'connected_gene': 'WASF2', 'score': 25.62}, {'connected_gene': 'GPN2', 'score': 24.77}, {'connected_gene': 'ENSG00000231344', 'score': 19.77}, {'connected_gene': 'PPP1R8', 'score': 18.28}, {'connected_gene': 'CD164L2', 'score': 12.24}, {'connected_gene': 'SYTL1', 'score': 11.91}, {'connected_gene': 'RCC1', 'score': 10.85}, {'connected_gene': 'GPATCH3', 'score': 10.84}, {'connected_gene': 'LOC101928728', 'score': 10.78}, {'connected_gene': 'SNORA73B', 'score': 10.41}, {'connected_gene': 'FAM46B', 'score': 10.1}, {'connected_gene': 'SFN', 'score': 4.23}, {'connected_gene': 'WDTC1', 'score': 1.69}, {'connected_gene': 'FGR', 'score': 1.61}, {'connected_gene': 'THEMIS2', 'score': 1.33}, {'connected_gene': 'GC01P027520', 'score': 0.77}, {'connected_gene': 'GC01P027602', 'score': 0.18}]
chr1 GH01I027487 27487801 27493591 2.34 [{'connected_gene': 'WASF2', 'score': 574.24}, {'connected_gene': 'ARID1A', 'score': 118.35}, {'connected_gene': 'ACTG1P20', 'score': 105.78}, {'connected_gene': 'GPN2', 'score': 73.74}, {'connected_gene': 'FAM76A', 'score': 66.98}, {'connected_gene': 'PHACTR4', 'score': 57.61}, {'connected_gene': 'NPM1P39', 'score': 53.19}, {'connected_gene': 'MAP3K6', 'score': 43.28}, {'connected_gene': 'ENSG00000231344', 'score': 39.07}, {'connected_gene': 'LOC101928728', 'score': 33.45}, {'connected_gene': 'AHDC1', 'score': 31.23}, {'connected_gene': 'PPP1R8', 'score': 30.37}, {'connected_gene': 'EYA3', 'score': 18.47}, {'connected_gene': 'CD164L2', 'score': 17.45}, {'connected_gene': 'ENSG00000243659', 'score': 11.74}, {'connected_gene': 'TMEM222', 'score': 11.15}, {'connected_gene': 'PIGV', 'score': 10.45}, {'connected_gene': 'DNAJC8', 'score': 10.3}, {'connected_gene': 'FAM46B', 'score': 10.11}, {'connected_gene': 'GC01M027515', 'score': 0.31}]
chr1 GH01I027531 27531381 27534346 0.49 [{'connected_gene': 'WASF2', 'score': 11.98}, {'connected_gene': 'ENSG00000243659', 'score': 10.07}, {'connected_gene': 'CD164L2', 'score': 9.95}, {'connected_gene': 'LOC105376892', 'score': 0.39}, {'connected_gene': 'GC01P027602', 'score': 0.2}, {'connected_gene': 'AHDC1', 'score': 0.19}]
chr1 GH01I027412 27412122 27415665 0.2 [{'connected_gene': 'PIR40118', 'score': 550.77}, {'connected_gene': 'CD164L2', 'score': 13.7}, {'connected_gene': 'ENSG00000231207', 'score': 12.14}, {'connected_gene': 'GPR3', 'score': 12.14}, {'connected_gene': 'WASF2', 'score': 11.87}, {'connected_gene': 'LOC105376892', 'score': 11.71}, {'connected_gene': 'ENSG00000225886', 'score': 11.02}, {'connected_gene': 'RNU6-48P', 'score': 10.88}, {'connected_gene': 'ACTG1P20', 'score': 10.87}, {'connected_gene': 'TMEM222', 'score': 10.87}, {'connected_gene': 'ENSG00000243659', 'score': 10.24}, {'connected_gene': 'SCARNA1', 'score': 9.35}, {'connected_gene': 'RNU6-1245P', 'score': 9.35}, {'connected_gene': 'PPP1R8', 'score': 9.35}, {'connected_gene': 'MAP3K6', 'score': 6.83}, {'connected_gene': 'HMGN2', 'score': 4.03}, {'connected_gene': 'PIR46305', 'score': 0.44}, {'connected_gene': 'GC01M027415', 'score': 0.44}]
chr1 GH01I027455 27455179 27456000 0.78 [{'connected_gene': 'ENSG00000241169', 'score': 550.77}, {'connected_gene': 'CD164L2', 'score': 18.17}, {'connected_gene': 'LOC105376892', 'score': 12.55}, {'connected_gene': 'WASF2', 'score': 12.44}, {'connected_gene': 'GPR3', 'score': 10.96}, {'connected_gene': 'ENSG00000231207', 'score': 10.96}, {'connected_gene': 'ENSG00000243659', 'score': 10.22}, {'connected_gene': 'ACTG1P20', 'score': 9.78}, {'connected_gene': 'RNU6-48P', 'score': 9.78}, {'connected_gene': 'TMEM222', 'score': 9.78}, {'connected_gene': 'LOC105376890', 'score': 9.63}, {'connected_gene': 'WDTC1', 'score': 9.63}, {'connected_gene': 'PIR40118', 'score': 0.26}]
chr1 GH01I027401 27401592 27407805 1.19 [{'connected_gene': 'GC01M027441', 'score': 550.77}, {'connected_gene': 'PIR34425', 'score': 550.77}, {'connected_gene': 'PIR57657', 'score': 550.77}, {'connected_gene': 'CD164L2', 'score': 17.0}, {'connected_gene': 'WASF2', 'score': 11.44}, {'connected_gene': 'RNU6-48P', 'score': 11.19}, {'connected_gene': 'ACTG1P20', 'score': 11.18}, {'connected_gene': 'TMEM222', 'score': 11.18}, {'connected_gene': 'ENSG00000243659', 'score': 11.12}, {'connected_gene': 'MAP3K6', 'score': 5.06}, {'connected_gene': 'HMGN2', 'score': 4.02}, {'connected_gene': 'PIR52914', 'score': 0.77}, {'connected_gene': 'PIR34213', 'score': 0.77}, {'connected_gene': 'PIR46305', 'score': 0.77}, {'connected_gene': 'GC01M027415', 'score': 0.77}, {'connected_gene': 'GC01M027413', 'score': 0.77}, {'connected_gene': 'PIR56615', 'score': 0.77}, {'connected_gene': 'GPR3', 'score': 0.39}]
chr1 GH01I027515 27515122 27516880 0.46 [{'connected_gene': 'GC01M027515', 'score': 550.77}, {'connected_gene': 'CD164L2', 'score': 10.57}, {'connected_gene': 'WASF2', 'score': 0.31}]
chr1 GH01I027388 27388510 27388659 0.99 [{'connected_gene': 'ENSG00000231207', 'score': 550.77}, {'connected_gene': 'CD164L2', 'score': 0.44}]

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