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
ENST00000465313 [[767219, 767373], [770313, 770398], [770992, 771104], [771332, 771427]] [[770343, 770398], [770992, 771104], [771332, 771427]]
ENST00000528309 [[767221, 767373], [771332, 771426], [772426, 772521], [773521, 773629], [774007, 774068]] [[767242, 767373], [771332, 771426], [772426, 772521], [773521, 773629], [774007, 774068]]
ENST00000397472 [[767221, 767373], [770313, 770398], [771332, 771426], [772426, 772521], [773521, 773629], [774007, 774113], [775065, 775142], [777398, 777471]] [[767249, 767373], [770313, 770398], [771332, 771426], [772426, 772521], [773521, 773629], [774007, 774113], [775065, 775142], [777398, 777462]]
ENST00000319863 [[767224, 770903], [770992, 771104], [771332, 771426], [772426, 772521], [773521, 773629], [774007, 774113], [775065, 775142], [777398, 777484]] [[770896, 770903], [770992, 771104], [771332, 771426], [772426, 772521], [773521, 773629], [774007, 774113], [775065, 775142], [777398, 777462]]
ENST00000354286 [[767224, 770398], [770678, 770903], [770992, 771104], [771332, 771426], [772426, 772521], [774007, 774113], [775065, 775142], [777398, 777488]] [[770896, 770903], [770992, 771104], [771332, 771426], [772426, 772521], [774007, 774113], [775065, 775142], [777398, 777462]]
ENST00000526650 [[767227, 767368], [771332, 771426], [772426, 772521], [773521, 773629], [774007, 774026]] [[767249, 767368], [771332, 771426], [772426, 772521], [773521, 773629], [774007, 774026]]
ENST00000526325 [[767227, 767373], [771332, 771467], [772426, 772521], [773521, 773629], [774007, 774113], [775065, 775142], [777398, 777487]] [[771356, 771467], [772426, 772521], [773521, 773629], [774007, 774113], [775065, 775142], [777398, 777462]]
ENST00000442059 [[770207, 770903], [770992, 771104], [771332, 771426], [772426, 772521], [773521, 773629], [774007, 774113], [777398, 777487]] [[770896, 770903], [770992, 771104], [771332, 771426], [772426, 772521], [773521, 773629], [774007, 774104]]
ENST00000524550 [[770469, 770903], [770992, 771104], [771332, 771426], [772426, 772521], [774007, 774113], [775065, 775142], [777398, 777475]] [[770896, 770903], [770992, 771104], [771332, 771426], [772426, 772521], [774007, 774113], [775065, 775142], [777398, 777462]]
ENST00000532320 [[770549, 771426], [772426, 772521], [773521, 773629], [774007, 774113], [777398, 777485]] None
ENST00000530209 [[770697, 770903], [770992, 771104], [771332, 771426], [772426, 772614]] None
ENST00000529966 [[770811, 770903], [770992, 771212], [771332, 771426], [772426, 772521], [773521, 773629], [774007, 774113], [777398, 777483]] None
ENST00000534603 [[770811, 770903], [770992, 771104], [771332, 771426], [772426, 772521], [773427, 773629], [774007, 774113], [775065, 775142], [777398, 777483]] [[773513, 773629], [774007, 774113], [775065, 775142], [777398, 777462]]
ENST00000533960 [[770843, 771104], [771332, 771370]] None
ENST00000532839 [[771034, 771104], [771332, 771426], [772426, 772521], [773521, 773629], [774007, 774113], [777398, 777484]] None
ENST00000528602 [[773329, 773629], [774007, 774113], [775065, 775142], [777398, 777484]] None
ENST00000529362 [[775064, 775142], [776679, 777179]] None
Promoter
Chrom Start End Description
chr11 777114 777123 CAGE_peak_2_at_PDDC1_5end
chr11 777467 777507 CAGE_peak_1_at_PDDC1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I000839 839992 847569 2.25 [{'connected_gene': 'TSPAN4', 'score': 574.81}, {'connected_gene': 'POLR2L', 'score': 556.07}, {'connected_gene': 'GC11M000841', 'score': 550.77}, {'connected_gene': 'CD151', 'score': 50.69}, {'connected_gene': 'SNORA52', 'score': 29.58}, {'connected_gene': 'RPLP2', 'score': 26.64}, {'connected_gene': 'TMEM80', 'score': 25.95}, {'connected_gene': 'PIDD1', 'score': 23.35}, {'connected_gene': 'RIC8A', 'score': 21.73}, {'connected_gene': 'BET1L', 'score': 15.48}, {'connected_gene': 'ENSG00000255237', 'score': 13.61}, {'connected_gene': 'B4GALNT4', 'score': 13.27}, {'connected_gene': 'PHRF1', 'score': 12.95}, {'connected_gene': 'BRSK2', 'score': 11.54}, {'connected_gene': 'GATD1', 'score': 11.33}, {'connected_gene': 'SLC25A22', 'score': 11.33}, {'connected_gene': 'AP2A2', 'score': 11.32}, {'connected_gene': 'CEND1', 'score': 11.31}, {'connected_gene': 'ENSG00000255158', 'score': 10.55}, {'connected_gene': 'DEAF1', 'score': 9.95}, {'connected_gene': 'CHID1', 'score': 5.18}, {'connected_gene': 'PIR52875', 'score': 0.77}, {'connected_gene': 'ENSG00000250397', 'score': 0.37}]
chr11 GH11I000745 745459 750559 2.45 [{'connected_gene': 'TALDO1', 'score': 564.46}, {'connected_gene': 'ENSG00000255108', 'score': 55.59}, {'connected_gene': 'RPLP2', 'score': 22.07}, {'connected_gene': 'IRF7', 'score': 12.85}, {'connected_gene': 'LOC171391', 'score': 10.35}, {'connected_gene': 'DEAF1', 'score': 3.27}, {'connected_gene': 'TMEM80', 'score': 2.83}, {'connected_gene': 'IFITM2', 'score': 1.3}, {'connected_gene': 'GC11P000742', 'score': 0.44}, {'connected_gene': 'LOC105376509', 'score': 0.39}, {'connected_gene': 'GATD1', 'score': 0.31}]
chr11 GH11I000765 765893 767548 0.62 [{'connected_gene': 'RPLP2', 'score': 21.2}, {'connected_gene': 'LOC171391', 'score': 11.05}, {'connected_gene': 'EPS8L2', 'score': 6.1}, {'connected_gene': 'GATD1', 'score': 0.39}, {'connected_gene': 'TALDO1', 'score': 0.37}]
chr11 GH11I000234 234783 238316 2.24 [{'connected_gene': 'PSMD13', 'score': 594.38}, {'connected_gene': 'SIRT3', 'score': 550.77}, {'connected_gene': 'RIC8A', 'score': 47.32}, {'connected_gene': 'BET1L', 'score': 19.45}, {'connected_gene': 'SNORA52', 'score': 14.59}, {'connected_gene': 'RNH1', 'score': 14.15}, {'connected_gene': 'GATD1', 'score': 13.54}, {'connected_gene': 'TMEM80', 'score': 12.79}, {'connected_gene': 'ENSG00000255237', 'score': 12.18}, {'connected_gene': 'RPLP2', 'score': 12.12}, {'connected_gene': 'TSPAN4', 'score': 12.01}, {'connected_gene': 'PHRF1', 'score': 10.31}, {'connected_gene': 'DRD4', 'score': 10.27}, {'connected_gene': 'ENSG00000255158', 'score': 9.67}]
chr11 GH11I001297 1297153 1301052 1.54 [{'connected_gene': 'PIDD1', 'score': 12.83}, {'connected_gene': 'DRD4', 'score': 12.64}, {'connected_gene': 'TMEM80', 'score': 11.07}, {'connected_gene': 'GATD1', 'score': 10.77}, {'connected_gene': 'ENSG00000255142', 'score': 10.74}, {'connected_gene': 'ENSG00000255158', 'score': 10.2}, {'connected_gene': 'BRSK2', 'score': 9.59}, {'connected_gene': 'TOLLIP-AS1', 'score': 7.91}, {'connected_gene': 'TOLLIP', 'score': 2.45}, {'connected_gene': 'DUSP8', 'score': 1.77}, {'connected_gene': 'LOC105376512', 'score': 0.77}, {'connected_gene': 'GC11M001275', 'score': 0.34}, {'connected_gene': 'PIR51627', 'score': 0.34}]
chr11 GH11I001482 1482464 1483725 0.63 [{'connected_gene': 'PIDD1', 'score': 12.81}, {'connected_gene': 'DRD4', 'score': 12.64}, {'connected_gene': 'TMEM80', 'score': 11.07}, {'connected_gene': 'GATD1', 'score': 10.77}, {'connected_gene': 'ENSG00000255142', 'score': 10.73}, {'connected_gene': 'ENSG00000255158', 'score': 10.2}, {'connected_gene': 'KRTAP5-AS1', 'score': 8.07}, {'connected_gene': 'GC11P001473', 'score': 0.44}, {'connected_gene': 'MOB2', 'score': 0.37}]
chr11 GH11I001237 1237767 1239851 0.79 [{'connected_gene': 'PIDD1', 'score': 12.83}, {'connected_gene': 'DRD4', 'score': 12.64}, {'connected_gene': 'TMEM80', 'score': 11.07}, {'connected_gene': 'GATD1', 'score': 10.79}, {'connected_gene': 'ENSG00000255142', 'score': 10.75}, {'connected_gene': 'ENSG00000255158', 'score': 10.2}, {'connected_gene': 'TOLLIP-AS1', 'score': 5.24}, {'connected_gene': 'GC11M001230', 'score': 0.44}, {'connected_gene': 'GC11P001248', 'score': 0.44}, {'connected_gene': 'MUC5B', 'score': 0.37}]
chr11 GH11I000951 951377 959742 1.33 [{'connected_gene': 'PIDD1', 'score': 12.89}, {'connected_gene': 'DRD4', 'score': 12.67}, {'connected_gene': 'TMEM80', 'score': 11.11}, {'connected_gene': 'GATD1', 'score': 10.84}, {'connected_gene': 'ENSG00000255142', 'score': 10.8}, {'connected_gene': 'ENSG00000255158', 'score': 10.23}, {'connected_gene': 'LOC101927503', 'score': 7.14}, {'connected_gene': 'POLR2L', 'score': 6.06}, {'connected_gene': 'AP2A2', 'score': 5.28}, {'connected_gene': 'LOC171391', 'score': 4.44}, {'connected_gene': 'RNU6-1025P', 'score': 0.44}, {'connected_gene': 'GC11P000950', 'score': 0.44}, {'connected_gene': 'GC11P000968', 'score': 0.39}]
chr11 GH11I001690 1690154 1694795 1.42 [{'connected_gene': 'GATD1', 'score': 9.89}, {'connected_gene': 'LOC100505570', 'score': 5.85}, {'connected_gene': 'FAM99B', 'score': 5.76}, {'connected_gene': 'KRTAP5-6', 'score': 2.78}, {'connected_gene': 'IGF2', 'score': 1.75}, {'connected_gene': 'GC11M001692', 'score': 0.77}, {'connected_gene': 'GC11P001673', 'score': 0.37}]
chr11 GH11I000501 501960 508501 2.24 [{'connected_gene': 'RNH1', 'score': 568.91}, {'connected_gene': 'GC11M000506', 'score': 550.77}, {'connected_gene': 'GC11P000507', 'score': 550.77}, {'connected_gene': 'GC11M000505', 'score': 550.77}, {'connected_gene': 'LRRC56', 'score': 22.04}, {'connected_gene': 'PTDSS2', 'score': 17.54}, {'connected_gene': 'GATD1', 'score': 10.76}, {'connected_gene': 'DRD4', 'score': 8.58}, {'connected_gene': 'TMEM80', 'score': 5.36}, {'connected_gene': 'GC11P000497', 'score': 0.44}]
chr11 GH11I000657 657246 658592 0.72 [{'connected_gene': 'TMEM80', 'score': 56.58}, {'connected_gene': 'EPS8L2', 'score': 22.27}, {'connected_gene': 'DEAF1', 'score': 12.94}, {'connected_gene': 'CDHR5', 'score': 11.95}, {'connected_gene': 'IRF7', 'score': 11.92}, {'connected_gene': 'TALDO1', 'score': 11.84}, {'connected_gene': 'CEND1', 'score': 11.3}, {'connected_gene': 'SLC25A22', 'score': 11.29}, {'connected_gene': 'PIDD1', 'score': 11.29}, {'connected_gene': 'RPLP2', 'score': 11.29}, {'connected_gene': 'LOC171391', 'score': 11.18}, {'connected_gene': 'GATD1', 'score': 11.18}, {'connected_gene': 'ENSG00000255142', 'score': 11.17}, {'connected_gene': 'PTDSS2', 'score': 5.07}, {'connected_gene': 'HRAS', 'score': 4.98}, {'connected_gene': 'GC11P000654', 'score': 0.77}, {'connected_gene': 'GC11P000663', 'score': 0.44}]
chr11 GH11I000775 775406 779262 2.15 [{'connected_gene': 'LOC171391', 'score': 550.77}, {'connected_gene': 'GATD1', 'score': 550.77}, {'connected_gene': 'ENSG00000255108', 'score': 48.87}, {'connected_gene': 'TALDO1', 'score': 6.36}, {'connected_gene': 'TMEM80', 'score': 6.28}, {'connected_gene': 'MIR210', 'score': 4.86}]
chr11 GH11I000766 765361 765570 0.94 [{'connected_gene': 'LOC171391', 'score': 11.11}, {'connected_gene': 'GATD1', 'score': 0.39}, {'connected_gene': 'TALDO1', 'score': 0.37}]
chr11 GH11I000752 752309 752823 0.43 [{'connected_gene': 'LOC171391', 'score': 10.21}, {'connected_gene': 'TMEM80', 'score': 6.25}, {'connected_gene': 'TALDO1', 'score': 0.44}, {'connected_gene': 'GATD1', 'score': 0.34}]
chr11 GH11I000534 534161 538417 2.22 [{'connected_gene': 'LRRC56', 'score': 568.29}, {'connected_gene': 'HRAS', 'score': 567.77}, {'connected_gene': 'TMEM80', 'score': 22.35}, {'connected_gene': 'RNH1', 'score': 16.6}, {'connected_gene': 'PIDD1', 'score': 12.84}, {'connected_gene': 'DRD4', 'score': 12.76}, {'connected_gene': 'PHRF1', 'score': 12.05}, {'connected_gene': 'GATD1', 'score': 10.81}, {'connected_gene': 'ENSG00000255142', 'score': 10.77}, {'connected_gene': 'ENSG00000255158', 'score': 10.3}, {'connected_gene': 'ENSG00000255237', 'score': 10.1}, {'connected_gene': 'LMNTD2', 'score': 7.0}, {'connected_gene': 'LOC101059906', 'score': 0.44}]
chr11 GH11I000391 391978 397450 2.17 [{'connected_gene': 'PKP3', 'score': 560.96}, {'connected_gene': 'GC11P000395', 'score': 550.77}, {'connected_gene': 'SIGIRR', 'score': 21.99}, {'connected_gene': 'ENSG00000255142', 'score': 13.4}, {'connected_gene': 'PIDD1', 'score': 12.83}, {'connected_gene': 'DRD4', 'score': 12.68}, {'connected_gene': 'TMEM80', 'score': 11.1}, {'connected_gene': 'GATD1', 'score': 10.79}, {'connected_gene': 'ENSG00000255158', 'score': 10.23}, {'connected_gene': 'PTDSS2', 'score': 9.76}, {'connected_gene': 'GC11M000414', 'score': 0.39}]
chr11 GH11I001530 1530712 1533801 0.69 [{'connected_gene': 'GC11P001533', 'score': 550.77}, {'connected_gene': 'MOB2', 'score': 21.2}, {'connected_gene': 'KRTAP5-AS1', 'score': 17.57}, {'connected_gene': 'TOLLIP-AS1', 'score': 10.71}, {'connected_gene': 'TOLLIP', 'score': 10.71}, {'connected_gene': 'KRTAP5-5', 'score': 10.3}, {'connected_gene': 'GATD1', 'score': 4.55}, {'connected_gene': 'GC11M001525', 'score': 0.77}]
chr11 GH11I000662 662801 662970 0.72 [{'connected_gene': 'GC11P000663', 'score': 550.77}, {'connected_gene': 'EPS8L2', 'score': 12.12}, {'connected_gene': 'TMEM80', 'score': 12.12}, {'connected_gene': 'CDHR5', 'score': 12.09}, {'connected_gene': 'DEAF1', 'score': 12.09}, {'connected_gene': 'IRF7', 'score': 12.06}, {'connected_gene': 'LOC171391', 'score': 11.54}, {'connected_gene': 'GATD1', 'score': 11.54}, {'connected_gene': 'ENSG00000255142', 'score': 11.53}, {'connected_gene': 'CEND1', 'score': 11.16}, {'connected_gene': 'SLC25A22', 'score': 11.15}, {'connected_gene': 'PIDD1', 'score': 11.15}, {'connected_gene': 'RPLP2', 'score': 11.15}, {'connected_gene': 'GC11P000654', 'score': 0.44}]
chr11 GH11I000770 770399 774541 0.52 [{'connected_gene': 'ENSG00000255108', 'score': 54.21}, {'connected_gene': 'RPLP2', 'score': 22.47}, {'connected_gene': 'LOC171391', 'score': 9.96}, {'connected_gene': 'TMEM80', 'score': 5.36}, {'connected_gene': 'GATD1', 'score': 0.44}, {'connected_gene': 'TALDO1', 'score': 0.31}]
chr11 GH11I001153 1153539 1154601 1.05 [{'connected_gene': 'GC11P001154', 'score': 550.77}, {'connected_gene': 'PIDD1', 'score': 12.83}, {'connected_gene': 'DRD4', 'score': 12.64}, {'connected_gene': 'TMEM80', 'score': 11.09}, {'connected_gene': 'GATD1', 'score': 10.79}, {'connected_gene': 'ENSG00000255142', 'score': 10.76}, {'connected_gene': 'ENSG00000255158', 'score': 10.21}, {'connected_gene': 'GC11P001128', 'score': 0.31}]
chr11 GH11I000761 761595 764709 1 [{'connected_gene': 'ENSG00000255108', 'score': 56.74}, {'connected_gene': 'TMEM80', 'score': 16.58}, {'connected_gene': 'PIDD1', 'score': 15.84}, {'connected_gene': 'ENSG00000255142', 'score': 14.65}, {'connected_gene': 'LOC171391', 'score': 11.15}, {'connected_gene': 'PHRF1', 'score': 10.1}, {'connected_gene': 'ENSG00000255158', 'score': 9.79}, {'connected_gene': 'TALDO1', 'score': 6.45}, {'connected_gene': 'GATD1', 'score': 0.39}]
chr11 GH11I000654 654861 655777 1.04 [{'connected_gene': 'GC11P000654', 'score': 550.77}, {'connected_gene': 'TMEM80', 'score': 35.1}, {'connected_gene': 'CDHR5', 'score': 16.91}, {'connected_gene': 'EPS8L2', 'score': 12.64}, {'connected_gene': 'DEAF1', 'score': 12.6}, {'connected_gene': 'IRF7', 'score': 12.55}, {'connected_gene': 'TALDO1', 'score': 11.88}, {'connected_gene': 'ENSG00000255142', 'score': 11.65}, {'connected_gene': 'LOC171391', 'score': 11.65}, {'connected_gene': 'GATD1', 'score': 11.65}, {'connected_gene': 'CEND1', 'score': 11.1}, {'connected_gene': 'SLC25A22', 'score': 11.1}, {'connected_gene': 'PIDD1', 'score': 11.09}, {'connected_gene': 'RPLP2', 'score': 11.09}, {'connected_gene': 'PTDSS2', 'score': 5.18}, {'connected_gene': 'CHID1', 'score': 5.08}, {'connected_gene': 'SIRT3', 'score': 2.35}, {'connected_gene': 'NLRP6', 'score': 1.29}, {'connected_gene': 'GC11P000663', 'score': 0.44}]

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