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
ENST00000252622 [[2321515, 2321821], [2324123, 2324195], [2328385, 2328476], [2328559, 2328619]] [[2321678, 2321821], [2324123, 2324195], [2328385, 2328476], [2328559, 2328565]]
ENST00000589532 [[2321519, 2321821], [2324123, 2324195], [2324740, 2324905]] None
ENST00000585395 [[2321519, 2321821], [2324123, 2324191], [2325978, 2326138], [2328385, 2328476], [2328559, 2328561]] [[2326046, 2326138], [2328385, 2328476], [2328559, 2328561]]
ENST00000587502 [[2321519, 2321821], [2324123, 2324195], [2328385, 2328585]] None
ENST00000585409 [[2321519, 2321821], [2324123, 2324191], [2328385, 2328476], [2328559, 2328610]] [[2324180, 2324191], [2328385, 2328476], [2328559, 2328565]]
ENST00000591515 [[2321547, 2321821], [2324123, 2324531]] None
ENST00000591745 [[2327960, 2328476], [2328559, 2328586]] None
NM_016199 [[2321519, 2321821], [2324123, 2324195], [2328385, 2328476], [2328559, 2328614]] [[2321678, 2321821], [2324123, 2324195], [2328385, 2328476], [2328559, 2328565]]
Promoter
Chrom Start End Description
chr19 2328572 2328602 CAGE_peak_1_at_LSM7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I002160 2160914 2174566 2.66 [{'connected_gene': 'DOT1L', 'score': 581.78}, {'connected_gene': 'CIRBP', 'score': 36.32}, {'connected_gene': 'ZNF77', 'score': 31.34}, {'connected_gene': 'AP3D1', 'score': 30.24}, {'connected_gene': 'GADD45B', 'score': 24.22}, {'connected_gene': 'LOC100288123', 'score': 20.37}, {'connected_gene': 'TCF3', 'score': 20.22}, {'connected_gene': 'DAZAP1', 'score': 19.82}, {'connected_gene': 'SF3A2', 'score': 15.87}, {'connected_gene': 'ENSG00000267317', 'score': 14.16}, {'connected_gene': 'ZNF554', 'score': 14.07}, {'connected_gene': 'LMNB2', 'score': 12.33}, {'connected_gene': 'RPS15', 'score': 11.8}, {'connected_gene': 'MUM1', 'score': 10.88}, {'connected_gene': 'SPPL2B', 'score': 10.61}, {'connected_gene': 'STK11', 'score': 10.57}, {'connected_gene': 'AMH', 'score': 10.46}, {'connected_gene': 'ZNF555', 'score': 10.39}, {'connected_gene': 'ENSG00000267283', 'score': 10.32}, {'connected_gene': 'LSM7', 'score': 10.27}, {'connected_gene': 'ENSG00000261526', 'score': 10.08}, {'connected_gene': 'TLE2', 'score': 9.93}, {'connected_gene': 'PLEKHJ1', 'score': 9.13}, {'connected_gene': 'IZUMO4', 'score': 7.73}, {'connected_gene': 'CSNK1G2', 'score': 7.06}, {'connected_gene': 'MKNK2', 'score': 6.55}, {'connected_gene': 'REXO1', 'score': 4.03}, {'connected_gene': 'PEAK3', 'score': 2.21}, {'connected_gene': 'OAZ1', 'score': 2.07}, {'connected_gene': 'MOB3A', 'score': 1.57}, {'connected_gene': 'GC19M002173', 'score': 0.39}]
chr19 GH19I001851 1851002 1865946 2.66 [{'connected_gene': 'KLF16', 'score': 562.05}, {'connected_gene': 'ENSG00000267141', 'score': 550.77}, {'connected_gene': 'GC19M001854', 'score': 550.77}, {'connected_gene': 'SF3A2', 'score': 14.16}, {'connected_gene': 'ATP8B3', 'score': 13.32}, {'connected_gene': 'DAZAP1', 'score': 12.18}, {'connected_gene': 'ZNF555', 'score': 11.15}, {'connected_gene': 'LOC100288123', 'score': 8.31}, {'connected_gene': 'REXO1', 'score': 5.92}, {'connected_gene': 'ELOCP28', 'score': 5.19}, {'connected_gene': 'NDUFS7', 'score': 2.25}, {'connected_gene': 'MOB3A', 'score': 2.1}, {'connected_gene': 'CSNK1G2', 'score': 1.79}, {'connected_gene': 'C19orf25', 'score': 1.49}, {'connected_gene': 'SCAMP4', 'score': 1.42}, {'connected_gene': 'ADAT3', 'score': 1.42}, {'connected_gene': 'TCF3', 'score': 1.37}, {'connected_gene': 'SPPL2B', 'score': 1.29}, {'connected_gene': 'PEAK3', 'score': 1.25}, {'connected_gene': 'PLEKHJ1', 'score': 1.23}, {'connected_gene': 'BTBD2', 'score': 1.2}, {'connected_gene': 'LSM7', 'score': 1.13}, {'connected_gene': 'ENSG00000267125', 'score': 0.44}, {'connected_gene': 'GC19P001851', 'score': 0.44}]
chr19 GH19I002290 2290662 2290911 0.74 [{'connected_gene': 'ZNF77', 'score': 14.07}, {'connected_gene': 'AP3D1', 'score': 11.86}, {'connected_gene': 'MUM1', 'score': 10.88}, {'connected_gene': 'SPPL2B', 'score': 10.79}, {'connected_gene': 'LSM7', 'score': 10.45}, {'connected_gene': 'ZNF555', 'score': 10.4}, {'connected_gene': 'ENSG00000261526', 'score': 10.07}, {'connected_gene': 'GC19M002288', 'score': 0.77}, {'connected_gene': 'LOC101928572', 'score': 0.39}, {'connected_gene': 'LINGO3', 'score': 0.37}, {'connected_gene': 'ENSG00000273734', 'score': 0.34}]
chr19 GH19I002531 2531800 2535264 1.2 [{'connected_gene': 'ZNF77', 'score': 19.67}, {'connected_gene': 'SPPL2B', 'score': 13.3}, {'connected_gene': 'AP3D1', 'score': 11.4}, {'connected_gene': 'LSM7', 'score': 11.1}, {'connected_gene': 'SCAMP4', 'score': 11.09}, {'connected_gene': 'LOC100288123', 'score': 10.42}, {'connected_gene': 'SF3A2', 'score': 10.25}, {'connected_gene': 'ZNF555', 'score': 10.14}, {'connected_gene': 'ENSG00000267214', 'score': 6.07}, {'connected_gene': 'ADAT3', 'score': 5.2}, {'connected_gene': 'GC19M002534', 'score': 0.77}, {'connected_gene': 'GC19M002526', 'score': 0.44}, {'connected_gene': 'GNG7', 'score': 0.1}]
chr19 GH19I002613 2612805 2615237 1.17 [{'connected_gene': 'ZNF77', 'score': 19.68}, {'connected_gene': 'SPPL2B', 'score': 13.28}, {'connected_gene': 'CACTIN-AS1', 'score': 12.86}, {'connected_gene': 'AP3D1', 'score': 11.4}, {'connected_gene': 'SCAMP4', 'score': 11.09}, {'connected_gene': 'LSM7', 'score': 11.08}, {'connected_gene': 'LOC100288123', 'score': 10.42}, {'connected_gene': 'SF3A2', 'score': 10.24}, {'connected_gene': 'ZNF555', 'score': 10.15}, {'connected_gene': 'C19orf71', 'score': 9.65}, {'connected_gene': 'ENSG00000267412', 'score': 0.77}, {'connected_gene': 'PIR33921', 'score': 0.37}, {'connected_gene': 'GNG7', 'score': 0.17}]
chr19 GH19I002336 2336722 2338373 0.89 [{'connected_gene': 'ZNF77', 'score': 29.47}, {'connected_gene': 'SPPL2B', 'score': 19.54}, {'connected_gene': 'ZNF555', 'score': 18.96}, {'connected_gene': 'MUM1', 'score': 16.83}, {'connected_gene': 'MEX3D', 'score': 15.16}, {'connected_gene': 'ZNF554', 'score': 13.66}, {'connected_gene': 'SLC39A3', 'score': 13.38}, {'connected_gene': 'DOT1L', 'score': 12.08}, {'connected_gene': 'AP3D1', 'score': 11.81}, {'connected_gene': 'LOC101928631', 'score': 11.77}, {'connected_gene': 'GNA11', 'score': 10.71}, {'connected_gene': 'MBD3', 'score': 10.3}, {'connected_gene': 'CSNK1G2', 'score': 10.2}, {'connected_gene': 'LMNB2', 'score': 10.18}, {'connected_gene': 'TLE2', 'score': 10.17}, {'connected_gene': 'PIR56954', 'score': 0.77}, {'connected_gene': 'LSM7', 'score': 0.44}, {'connected_gene': 'ENSG00000273734', 'score': 0.2}]
chr19 GH19I002322 2322925 2323644 0.38 [{'connected_gene': 'LSM7', 'score': 24.13}, {'connected_gene': 'SPPL2B', 'score': 0.44}, {'connected_gene': 'LINGO3', 'score': 0.37}, {'connected_gene': 'ENSG00000273734', 'score': 0.23}]
chr19 GH19I002324 2324086 2326262 0.77 [{'connected_gene': 'LSM7', 'score': 29.23}, {'connected_gene': 'SPPL2B', 'score': 19.4}, {'connected_gene': 'ENSG00000261526', 'score': 14.54}, {'connected_gene': 'ZNF77', 'score': 12.29}, {'connected_gene': 'ENSG00000267283', 'score': 11.69}, {'connected_gene': 'AP3D1', 'score': 10.42}, {'connected_gene': 'LMNB2', 'score': 10.06}, {'connected_gene': 'LINGO3', 'score': 0.37}, {'connected_gene': 'ENSG00000273734', 'score': 0.22}]
chr19 GH19I002326 2326745 2334991 2.55 [{'connected_gene': 'LSM7', 'score': 581.27}, {'connected_gene': 'SPPL2B', 'score': 569.58}, {'connected_gene': 'REXO1', 'score': 3.1}, {'connected_gene': 'MKNK2', 'score': 2.59}, {'connected_gene': 'GNG7', 'score': 2.2}, {'connected_gene': 'CSNK1G2', 'score': 1.71}, {'connected_gene': 'PIR56954', 'score': 0.39}, {'connected_gene': 'ENSG00000273734', 'score': 0.21}]
chr19 GH19I002315 2315521 2317162 1.02 [{'connected_gene': 'LSM7', 'score': 14.23}, {'connected_gene': 'PEAK3', 'score': 12.64}, {'connected_gene': 'SF3A2', 'score': 12.34}, {'connected_gene': 'MIR1227', 'score': 12.34}, {'connected_gene': 'LINGO3', 'score': 0.44}, {'connected_gene': 'SPPL2B', 'score': 0.39}, {'connected_gene': 'ENSG00000273734', 'score': 0.25}]
chr19 GH19I001565 1565603 1568601 1.9 [{'connected_gene': 'MEX3D', 'score': 550.77}, {'connected_gene': 'CIRBP', 'score': 13.15}, {'connected_gene': 'AP3D1', 'score': 11.76}, {'connected_gene': 'MUM1', 'score': 10.93}, {'connected_gene': 'SPPL2B', 'score': 10.54}, {'connected_gene': 'LSM7', 'score': 10.2}, {'connected_gene': 'ENSG00000261526', 'score': 10.08}, {'connected_gene': 'GC19M001562', 'score': 0.77}, {'connected_gene': 'GC19P001563', 'score': 0.77}]
chr19 GH19I002266 2266295 2267291 1.15 [{'connected_gene': 'JSRP1', 'score': 6.73}, {'connected_gene': 'LSM7', 'score': 5.93}, {'connected_gene': 'LOC105372240', 'score': 0.77}, {'connected_gene': 'MIR4321', 'score': 0.37}]
chr19 GH19I002899 2899945 2903409 2.01 [{'connected_gene': 'ZNF57', 'score': 556.41}, {'connected_gene': 'ZNF77', 'score': 11.64}, {'connected_gene': 'CACTIN', 'score': 11.46}, {'connected_gene': 'ZNF555', 'score': 10.7}, {'connected_gene': 'ZNF554', 'score': 10.03}, {'connected_gene': 'LSM7', 'score': 9.78}, {'connected_gene': 'LOC101928631', 'score': 8.86}, {'connected_gene': 'GC19M002916', 'score': 0.37}]
chr19 GH19I002601 2601322 2604216 1.15 [{'connected_gene': 'RNU6-993P', 'score': 12.5}, {'connected_gene': 'SPPL2B', 'score': 10.73}, {'connected_gene': 'LSM7', 'score': 10.73}, {'connected_gene': 'ENSG00000267412', 'score': 0.44}, {'connected_gene': 'RN7SL121P', 'score': 0.44}, {'connected_gene': 'GNG7', 'score': 0.15}]
chr19 GH19I002598 2598583 2600092 1.7 [{'connected_gene': 'RNU6-993P', 'score': 12.5}, {'connected_gene': 'SLC39A3', 'score': 10.96}, {'connected_gene': 'PEAK3', 'score': 10.89}, {'connected_gene': 'LSM7', 'score': 10.79}, {'connected_gene': 'SPPL2B', 'score': 10.79}, {'connected_gene': 'GADD45B', 'score': 5.14}, {'connected_gene': 'DOT1L', 'score': 3.58}, {'connected_gene': 'RN7SL121P', 'score': 0.77}, {'connected_gene': 'ENSG00000267412', 'score': 0.39}, {'connected_gene': 'GNG7', 'score': 0.15}]
chr19 GH19I003305 3305043 3305192 0.75 [{'connected_gene': 'LOC105372244', 'score': 550.77}, {'connected_gene': 'CACTIN', 'score': 11.49}, {'connected_gene': 'ZNF77', 'score': 11.43}, {'connected_gene': 'ZNF555', 'score': 10.54}, {'connected_gene': 'ZNF554', 'score': 9.9}, {'connected_gene': 'LSM7', 'score': 9.78}, {'connected_gene': 'GC19M003293', 'score': 0.39}]
chr19 GH19I002288 2288541 2290648 1.61 [{'connected_gene': 'GC19M002288', 'score': 550.77}, {'connected_gene': 'ZNF77', 'score': 14.07}, {'connected_gene': 'AP3D1', 'score': 11.86}, {'connected_gene': 'MUM1', 'score': 10.88}, {'connected_gene': 'SPPL2B', 'score': 10.79}, {'connected_gene': 'LSM7', 'score': 10.45}, {'connected_gene': 'ZNF555', 'score': 10.4}, {'connected_gene': 'ENSG00000261526', 'score': 10.07}, {'connected_gene': 'TIMM13', 'score': 6.53}, {'connected_gene': 'ABHD17A', 'score': 5.31}, {'connected_gene': 'LOC101928572', 'score': 0.39}, {'connected_gene': 'LINGO3', 'score': 0.37}, {'connected_gene': 'ENSG00000273734', 'score': 0.34}]
chr19 GH19I002340 2340627 2343584 0.79 [{'connected_gene': 'PIR56954', 'score': 550.77}, {'connected_gene': 'LSM7', 'score': 15.75}, {'connected_gene': 'SPPL2B', 'score': 12.63}, {'connected_gene': 'ENSG00000273734', 'score': 0.19}]
chr19 GH19I002268 2268538 2275891 2.52 [{'connected_gene': 'GC19P002271', 'score': 550.77}, {'connected_gene': 'OAZ1', 'score': 550.77}, {'connected_gene': 'GC19M002271', 'score': 550.77}, {'connected_gene': 'SF3A2', 'score': 36.33}, {'connected_gene': 'ZNF77', 'score': 24.0}, {'connected_gene': 'LINGO3', 'score': 13.75}, {'connected_gene': 'TCF3', 'score': 13.73}, {'connected_gene': 'MIR1227', 'score': 12.99}, {'connected_gene': 'DAZAP1', 'score': 12.16}, {'connected_gene': 'MUM1', 'score': 11.13}, {'connected_gene': 'RPS15', 'score': 10.57}, {'connected_gene': 'LOC100288123', 'score': 10.08}, {'connected_gene': 'TLE2', 'score': 9.78}, {'connected_gene': 'JSRP1', 'score': 6.3}, {'connected_gene': 'PEAK3', 'score': 5.55}, {'connected_gene': 'LSM7', 'score': 5.53}, {'connected_gene': 'ENSG00000273734', 'score': 0.77}, {'connected_gene': 'LOC105372240', 'score': 0.77}]
chr19 GH19I002345 2345575 2346390 1.14 [{'connected_gene': 'GC19P002347', 'score': 550.77}, {'connected_gene': 'DAZAP1', 'score': 38.58}, {'connected_gene': 'TCF3', 'score': 38.08}, {'connected_gene': 'LOC100288123', 'score': 36.67}, {'connected_gene': 'SF3A2', 'score': 34.4}, {'connected_gene': 'SPPL2B', 'score': 29.69}, {'connected_gene': 'DOT1L', 'score': 22.63}, {'connected_gene': 'ENSG00000267317', 'score': 21.76}, {'connected_gene': 'LSM7', 'score': 17.97}, {'connected_gene': 'LMNB2', 'score': 12.41}, {'connected_gene': 'ZNF77', 'score': 12.01}, {'connected_gene': 'ENSG00000267139', 'score': 10.49}, {'connected_gene': 'ATP8B3', 'score': 10.23}, {'connected_gene': 'PIR56954', 'score': 0.77}]
chr19 GH19I001745 1745533 1751368 1.67 [{'connected_gene': 'ENSG00000267073', 'score': 550.77}, {'connected_gene': 'CIRBP', 'score': 27.18}, {'connected_gene': 'SPPL2B', 'score': 23.0}, {'connected_gene': 'AP3D1', 'score': 21.38}, {'connected_gene': 'SCAMP4', 'score': 20.67}, {'connected_gene': 'MUM1', 'score': 16.21}, {'connected_gene': 'SLC39A3', 'score': 13.36}, {'connected_gene': 'C19orf24', 'score': 12.91}, {'connected_gene': 'ATP8B3', 'score': 12.51}, {'connected_gene': 'REXO1', 'score': 12.45}, {'connected_gene': 'TMEM259', 'score': 12.39}, {'connected_gene': 'DOT1L', 'score': 12.03}, {'connected_gene': 'TCF3', 'score': 11.66}, {'connected_gene': 'STK11', 'score': 11.12}, {'connected_gene': 'GRIN3B', 'score': 11.11}, {'connected_gene': 'LSM7', 'score': 11.05}, {'connected_gene': 'LOC100288123', 'score': 10.59}, {'connected_gene': 'SF3A2', 'score': 10.24}, {'connected_gene': 'CSNK1G2', 'score': 10.23}, {'connected_gene': 'LMNB2', 'score': 10.08}, {'connected_gene': 'ONECUT3', 'score': 2.15}, {'connected_gene': 'PLEKHJ1', 'score': 1.77}, {'connected_gene': 'RPS15', 'score': 1.57}, {'connected_gene': 'DAZAP1', 'score': 1.29}, {'connected_gene': 'GC19M001748', 'score': 0.37}, {'connected_gene': 'GC19M001749', 'score': 0.37}, {'connected_gene': 'GC19M001747', 'score': 0.37}]
chr19 GH19I001382 1382922 1385129 2.37 [{'connected_gene': 'PIR43938', 'score': 550.77}, {'connected_gene': 'TRF-GAA1-6', 'score': 550.77}, {'connected_gene': 'PIR60227', 'score': 550.77}, {'connected_gene': 'NDUFS7', 'score': 550.77}, {'connected_gene': 'TRN-GTT2-6', 'score': 550.77}, {'connected_gene': 'CIRBP', 'score': 135.56}, {'connected_gene': 'SF3A2', 'score': 119.07}, {'connected_gene': 'TMEM259', 'score': 103.99}, {'connected_gene': 'MUM1', 'score': 94.25}, {'connected_gene': 'TCF3', 'score': 75.15}, {'connected_gene': 'LOC100288123', 'score': 72.83}, {'connected_gene': 'DAZAP1', 'score': 66.92}, {'connected_gene': 'GRIN3B', 'score': 60.65}, {'connected_gene': 'SPPL2B', 'score': 57.85}, {'connected_gene': 'PTBP1', 'score': 50.93}, {'connected_gene': 'ENSG00000261526', 'score': 46.95}, {'connected_gene': 'ENSG00000267283', 'score': 45.56}, {'connected_gene': 'ENSG00000267317', 'score': 39.04}, {'connected_gene': 'MED16', 'score': 36.49}, {'connected_gene': 'AP3D1', 'score': 31.5}, {'connected_gene': 'DOT1L', 'score': 30.54}, {'connected_gene': 'MEX3D', 'score': 29.79}, {'connected_gene': 'PALM', 'score': 28.34}, {'connected_gene': 'LOC105372232', 'score': 27.53}, {'connected_gene': 'ENSG00000267666', 'score': 27.21}, {'connected_gene': 'WDR18', 'score': 22.59}, {'connected_gene': 'PLK5', 'score': 21.37}, {'connected_gene': 'C19orf24', 'score': 21.14}, {'connected_gene': 'CSNK1G2', 'score': 19.65}, {'connected_gene': 'CNN2', 'score': 17.98}, {'connected_gene': 'CFD', 'score': 14.77}, {'connected_gene': 'POLRMT', 'score': 12.27}, {'connected_gene': 'ATP8B3', 'score': 11.98}, {'connected_gene': 'ENSG00000268798', 'score': 11.92}, {'connected_gene': 'SCAMP4', 'score': 11.25}, {'connected_gene': 'STK11', 'score': 11.17}, {'connected_gene': 'LSM7', 'score': 10.91}, {'connected_gene': 'FGF22', 'score': 10.8}, {'connected_gene': 'C19orf25', 'score': 10.65}, {'connected_gene': 'MIDN', 'score': 10.47}, {'connected_gene': 'RPS15', 'score': 10.37}, {'connected_gene': 'MBD3', 'score': 10.35}, {'connected_gene': 'BTBD2', 'score': 10.05}, {'connected_gene': 'RNF126', 'score': 9.89}, {'connected_gene': 'SBNO2', 'score': 9.85}, {'connected_gene': 'ENSG00000280486', 'score': 0.44}]

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