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
ENST00000293636 [[51722226, 51722378], [51723467, 51723617], [51733643, 51733789], [51735027, 51735164], [51736358, 51736484], [51737536, 51737637], [51739578, 51739661], [51740406, 51740463]] [[51722360, 51722378], [51723467, 51723617], [51733643, 51733789], [51735027, 51735164], [51736358, 51736484], [51737536, 51737637], [51739578, 51739661], [51740406, 51740422]]
NM_001971 [[51722226, 51722378], [51723467, 51723617], [51733643, 51733789], [51735027, 51735164], [51736358, 51736484], [51737536, 51737637], [51739578, 51739661], [51740406, 51740463]] [[51722360, 51722378], [51723467, 51723617], [51733643, 51733789], [51735027, 51735164], [51736358, 51736484], [51737536, 51737637], [51739578, 51739661], [51740406, 51740422]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I051268 51268807 51271897 2.17 [{'connected_gene': 'SMAGP', 'score': 557.84}, {'connected_gene': 'LOC102723983', 'score': 550.77}, {'connected_gene': 'POU6F1', 'score': 16.21}, {'connected_gene': 'BIN2', 'score': 11.7}, {'connected_gene': 'CELA1', 'score': 11.5}, {'connected_gene': 'DAZAP2', 'score': 11.36}, {'connected_gene': 'CSRNP2', 'score': 10.03}]
chr12 GH12I051186 51186194 51189394 0.75 [{'connected_gene': 'POU6F1', 'score': 13.27}, {'connected_gene': 'DAZAP2', 'score': 11.22}, {'connected_gene': 'LETMD1', 'score': 10.84}, {'connected_gene': 'CELA1', 'score': 10.52}, {'connected_gene': 'RNU6-1273P', 'score': 10.37}, {'connected_gene': 'SLC11A2', 'score': 9.37}, {'connected_gene': 'CSRNP2', 'score': 6.67}, {'connected_gene': 'SCN8A', 'score': 4.2}, {'connected_gene': 'ENSG00000278126', 'score': 0.39}, {'connected_gene': 'TFCP2', 'score': 0.39}]
chr12 GH12I051274 51274827 51275758 0.38 [{'connected_gene': 'POU6F1', 'score': 11.87}, {'connected_gene': 'BIN2', 'score': 11.72}, {'connected_gene': 'CELA1', 'score': 11.51}, {'connected_gene': 'DAZAP2', 'score': 11.34}, {'connected_gene': 'CSRNP2', 'score': 10.03}, {'connected_gene': 'SMAGP', 'score': 7.09}, {'connected_gene': 'LOC105369767', 'score': 0.25}]
chr12 GH12I051280 51280644 51282571 0.54 [{'connected_gene': 'BIN2', 'score': 11.13}, {'connected_gene': 'DAZAP2', 'score': 11.0}, {'connected_gene': 'CELA1', 'score': 10.62}, {'connected_gene': 'SLC4A8', 'score': 10.34}, {'connected_gene': 'GALNT6', 'score': 10.33}, {'connected_gene': 'CSRNP2', 'score': 10.17}, {'connected_gene': 'RNU6-1273P', 'score': 10.04}, {'connected_gene': 'LETMD1', 'score': 10.01}, {'connected_gene': 'SLC11A2', 'score': 9.98}, {'connected_gene': 'SMAGP', 'score': 7.47}, {'connected_gene': 'POU6F1', 'score': 4.71}, {'connected_gene': 'LOC105369767', 'score': 0.26}]
chr12 GH12I051291 51291801 51292800 0.97 [{'connected_gene': 'BIN2', 'score': 11.54}, {'connected_gene': 'DAZAP2', 'score': 10.4}, {'connected_gene': 'RNU6-1273P', 'score': 10.3}, {'connected_gene': 'CELA1', 'score': 10.3}, {'connected_gene': 'LETMD1', 'score': 10.21}, {'connected_gene': 'CSRNP2', 'score': 10.15}, {'connected_gene': 'SLC11A2', 'score': 10.13}, {'connected_gene': 'SMAGP', 'score': 0.34}, {'connected_gene': 'LOC105369767', 'score': 0.29}]
chr12 GH12I051353 51352000 51352201 1.09 [{'connected_gene': 'BIN2', 'score': 11.46}, {'connected_gene': 'SLC4A8', 'score': 10.77}, {'connected_gene': 'GALNT6', 'score': 10.75}, {'connected_gene': 'LETMD1', 'score': 10.27}, {'connected_gene': 'RNU6-1273P', 'score': 10.1}, {'connected_gene': 'SLC11A2', 'score': 9.58}, {'connected_gene': 'CELA1', 'score': 7.84}, {'connected_gene': 'POU6F1', 'score': 4.63}]
chr12 GH12I051352 51352271 51352366 0.79 [{'connected_gene': 'BIN2', 'score': 11.46}, {'connected_gene': 'SLC4A8', 'score': 10.77}, {'connected_gene': 'GALNT6', 'score': 10.75}, {'connected_gene': 'LETMD1', 'score': 10.27}, {'connected_gene': 'RNU6-1273P', 'score': 10.1}, {'connected_gene': 'SLC11A2', 'score': 9.58}, {'connected_gene': 'CELA1', 'score': 0.44}]
chr12 GH12I051383 51383420 51384511 0.69 [{'connected_gene': 'BIN2', 'score': 10.57}, {'connected_gene': 'SLC4A8', 'score': 0.44}, {'connected_gene': 'GALNT6', 'score': 0.44}, {'connected_gene': 'CELA1', 'score': 0.28}]
chr12 GH12I051285 51285730 51286851 0.52 [{'connected_gene': 'BIN2', 'score': 11.62}, {'connected_gene': 'CELA1', 'score': 11.4}, {'connected_gene': 'DAZAP2', 'score': 10.66}, {'connected_gene': 'RNU6-1273P', 'score': 10.32}, {'connected_gene': 'POU6F1', 'score': 4.83}, {'connected_gene': 'SMAGP', 'score': 0.37}, {'connected_gene': 'LOC105369767', 'score': 0.28}]
chr12 GH12I051266 51266237 51266386 0.46 [{'connected_gene': 'BIN2', 'score': 11.52}, {'connected_gene': 'CELA1', 'score': 11.35}, {'connected_gene': 'DAZAP2', 'score': 11.0}, {'connected_gene': 'RNU6-1273P', 'score': 10.56}, {'connected_gene': 'SLC11A2', 'score': 10.04}, {'connected_gene': 'SMAGP', 'score': 0.77}, {'connected_gene': 'LOC102723983', 'score': 0.77}]
chr12 GH12I051265 51265106 51265290 0.54 [{'connected_gene': 'BIN2', 'score': 11.52}, {'connected_gene': 'CELA1', 'score': 11.35}, {'connected_gene': 'DAZAP2', 'score': 11.0}, {'connected_gene': 'RNU6-1273P', 'score': 10.56}, {'connected_gene': 'SLC11A2', 'score': 10.04}, {'connected_gene': 'SMAGP', 'score': 0.44}, {'connected_gene': 'LOC102723983', 'score': 0.44}]
chr12 GH12I051300 51300275 51301085 0.52 [{'connected_gene': 'BIN2', 'score': 17.69}, {'connected_gene': 'CELA1', 'score': 12.21}, {'connected_gene': 'DAZAP2', 'score': 10.52}, {'connected_gene': 'RNU6-1273P', 'score': 10.28}, {'connected_gene': 'SLC11A2', 'score': 10.27}, {'connected_gene': 'LETMD1', 'score': 10.11}, {'connected_gene': 'GALNT6', 'score': 10.07}, {'connected_gene': 'SLC4A8', 'score': 10.07}, {'connected_gene': 'POU6F1', 'score': 5.63}, {'connected_gene': 'LOC105369767', 'score': 0.34}, {'connected_gene': 'SMAGP', 'score': 0.31}]
chr12 GH12I051301 51301215 51304745 0.49 [{'connected_gene': 'BIN2', 'score': 18.99}, {'connected_gene': 'CELA1', 'score': 18.97}, {'connected_gene': 'RNU6-1273P', 'score': 10.27}, {'connected_gene': 'SLC11A2', 'score': 10.27}, {'connected_gene': 'GALNT6', 'score': 10.08}, {'connected_gene': 'SLC4A8', 'score': 10.08}, {'connected_gene': 'POU6F1', 'score': 5.68}, {'connected_gene': 'LOC105369767', 'score': 0.34}, {'connected_gene': 'SMAGP', 'score': 0.29}]
chr12 GH12I051349 51349257 51349406 0.2 [{'connected_gene': 'BIN2', 'score': 11.69}, {'connected_gene': 'RNU6-1273P', 'score': 10.08}, {'connected_gene': 'SLC11A2', 'score': 10.07}, {'connected_gene': 'CSRNP2', 'score': 9.9}, {'connected_gene': 'CELA1', 'score': 0.77}, {'connected_gene': 'SLC4A8', 'score': 0.26}]
chr12 GH12I051317 51317925 51328249 2.46 [{'connected_gene': 'BIN2', 'score': 566.99}, {'connected_gene': 'LOC105369767', 'score': 550.77}, {'connected_gene': 'CELA1', 'score': 22.86}, {'connected_gene': 'HNRNPA3P10', 'score': 11.2}, {'connected_gene': 'POU6F1', 'score': 6.48}, {'connected_gene': 'DAZAP2', 'score': 6.13}, {'connected_gene': 'SMAGP', 'score': 5.43}, {'connected_gene': 'SLC11A2', 'score': 5.12}, {'connected_gene': 'PHBP19', 'score': 4.81}, {'connected_gene': 'GALNT6', 'score': 1.39}]
chr12 GH12I051183 51183335 51185549 0.64 [{'connected_gene': 'SLC11A2', 'score': 19.13}, {'connected_gene': 'LETMD1', 'score': 14.18}, {'connected_gene': 'POU6F1', 'score': 13.13}, {'connected_gene': 'CSRNP2', 'score': 11.27}, {'connected_gene': 'DAZAP2', 'score': 11.25}, {'connected_gene': 'CELA1', 'score': 10.51}, {'connected_gene': 'RNU6-1273P', 'score': 10.08}, {'connected_gene': 'TFCP2', 'score': 4.58}, {'connected_gene': 'SCN8A', 'score': 4.3}, {'connected_gene': 'ENSG00000278126', 'score': 0.37}]
chr12 GH12I051335 51335801 51336400 0.56 [{'connected_gene': 'LETMD1', 'score': 10.08}, {'connected_gene': 'RNU6-1273P', 'score': 9.96}, {'connected_gene': 'SLC11A2', 'score': 9.95}, {'connected_gene': 'DAZAP2', 'score': 9.91}, {'connected_gene': 'CELA1', 'score': 0.39}, {'connected_gene': 'BIN2', 'score': 0.39}]
chr12 GH12I051315 51315347 51317606 0.31 [{'connected_gene': 'CELA1', 'score': 18.28}, {'connected_gene': 'DAZAP2', 'score': 10.58}, {'connected_gene': 'RNU6-1273P', 'score': 9.98}, {'connected_gene': 'SLC11A2', 'score': 9.79}, {'connected_gene': 'BIN2', 'score': 5.85}, {'connected_gene': 'PHBP19', 'score': 4.16}, {'connected_gene': 'LOC105369767', 'score': 0.44}, {'connected_gene': 'SMAGP', 'score': 0.25}]
chr12 GH12I051376 51376531 51379278 0.76 [{'connected_gene': 'CELA1', 'score': 9.96}, {'connected_gene': 'SLC4A8', 'score': 0.39}, {'connected_gene': 'GALNT6', 'score': 0.39}]
chr12 GH12I051346 51346701 51346760 0.5 [{'connected_gene': 'CELA1', 'score': 550.77}, {'connected_gene': 'SLC4A8', 'score': 0.26}]
chr12 GH12I051328 51328801 51330599 0.63 [{'connected_gene': 'CELA1', 'score': 10.62}, {'connected_gene': 'POU6F1', 'score': 5.87}, {'connected_gene': 'BIN2', 'score': 0.44}]
chr12 GH12I051298 51298675 51299855 0.2 [{'connected_gene': 'CELA1', 'score': 17.02}, {'connected_gene': 'BIN2', 'score': 11.62}, {'connected_gene': 'DAZAP2', 'score': 10.52}, {'connected_gene': 'LETMD1', 'score': 10.11}, {'connected_gene': 'RNU6-1273P', 'score': 9.98}, {'connected_gene': 'SLC11A2', 'score': 9.94}, {'connected_gene': 'LOC105369767', 'score': 0.34}, {'connected_gene': 'SMAGP', 'score': 0.31}]
chr12 GH12I051373 51373257 51373486 0.38 [{'connected_gene': 'CELA1', 'score': 11.33}, {'connected_gene': 'BIN2', 'score': 11.05}, {'connected_gene': 'SLC4A8', 'score': 0.37}, {'connected_gene': 'GALNT6', 'score': 0.37}]
chr12 GH12I051374 51374164 51375670 0.2 [{'connected_gene': 'CELA1', 'score': 11.33}, {'connected_gene': 'BIN2', 'score': 11.04}, {'connected_gene': 'OR7E47P', 'score': 5.09}, {'connected_gene': 'GALNT6', 'score': 4.76}, {'connected_gene': 'SLC4A8', 'score': 0.37}]
chr12 GH12I051341 51341125 51342146 1.3 [{'connected_gene': 'CELA1', 'score': 10.94}, {'connected_gene': 'BIN2', 'score': 0.37}]
chr12 GH12I051348 51348045 51349068 0.43 [{'connected_gene': 'CELA1', 'score': 550.77}, {'connected_gene': 'ATF1', 'score': 16.45}, {'connected_gene': 'HNRNPA3P10', 'score': 16.14}, {'connected_gene': 'BIN2', 'score': 11.69}, {'connected_gene': 'RNU6-1273P', 'score': 10.08}, {'connected_gene': 'SLC11A2', 'score': 10.08}, {'connected_gene': 'CSRNP2', 'score': 9.9}, {'connected_gene': 'SLC4A8', 'score': 0.26}]
chr12 GH12I051307 51307793 51309480 1.09 [{'connected_gene': 'CELA1', 'score': 23.87}, {'connected_gene': 'LETMD1', 'score': 10.09}, {'connected_gene': 'LOC105369767', 'score': 0.37}, {'connected_gene': 'BIN2', 'score': 0.37}, {'connected_gene': 'SMAGP', 'score': 0.28}]
chr12 GH12I051358 51358440 51368053 0.78 [{'connected_gene': 'GALNT6', 'score': 21.55}, {'connected_gene': 'SLC4A8', 'score': 12.07}, {'connected_gene': 'BIN2', 'score': 11.11}, {'connected_gene': 'CSRNP2', 'score': 10.4}, {'connected_gene': 'DAZAP2', 'score': 10.31}, {'connected_gene': 'SLC11A2', 'score': 9.97}, {'connected_gene': 'RNU6-1273P', 'score': 9.97}, {'connected_gene': 'CELA1', 'score': 5.23}, {'connected_gene': 'POU6F1', 'score': 4.87}]
chr12 GH12I051387 51387374 51396449 2.57 [{'connected_gene': 'GALNT6', 'score': 565.23}, {'connected_gene': 'SLC4A8', 'score': 556.37}, {'connected_gene': 'BIN2', 'score': 11.71}, {'connected_gene': 'SLC11A2', 'score': 11.07}, {'connected_gene': 'CELA1', 'score': 10.97}, {'connected_gene': 'DAZAP2', 'score': 6.7}, {'connected_gene': 'CSRNP2', 'score': 2.09}]
chr12 GH12I051357 51357210 51358056 0.66 [{'connected_gene': 'GALNT6', 'score': 17.34}, {'connected_gene': 'BIN2', 'score': 11.44}, {'connected_gene': 'SLC4A8', 'score': 11.05}, {'connected_gene': 'CSRNP2', 'score': 10.4}, {'connected_gene': 'DAZAP2', 'score': 10.31}, {'connected_gene': 'LETMD1', 'score': 10.27}, {'connected_gene': 'RNU6-1273P', 'score': 10.1}, {'connected_gene': 'SLC11A2', 'score': 9.97}, {'connected_gene': 'CELA1', 'score': 5.22}]
chr12 GH12I051386 51386286 51386961 0.4 [{'connected_gene': 'GALNT6', 'score': 13.97}, {'connected_gene': 'BIN2', 'score': 10.41}, {'connected_gene': 'SLC4A8', 'score': 0.77}, {'connected_gene': 'CELA1', 'score': 0.28}]
chr12 GH12I051368 51368462 51372910 1.74 [{'connected_gene': 'GALNT6', 'score': 19.29}, {'connected_gene': 'CELA1', 'score': 16.23}, {'connected_gene': 'BIN2', 'score': 12.63}, {'connected_gene': 'SLC4A8', 'score': 12.09}, {'connected_gene': 'DAZAP2', 'score': 2.41}, {'connected_gene': 'CSRNP2', 'score': 1.7}, {'connected_gene': 'FIGNL2', 'score': 1.63}, {'connected_gene': 'SLC11A2', 'score': 1.54}]

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