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
ENST00000604900 [[51632669, 51632704], [51634126, 51634245], [51634654, 51634900], [51664501, 51665146]] [[51632691, 51632704], [51634126, 51634245], [51634654, 51634900], [51664501, 51664528]]
ENST00000412716 [[51632075, 51632704], [51634126, 51634245], [51634654, 51634900], [51636113, 51637717]] [[51632691, 51632704], [51634126, 51634245], [51634654, 51634900], [51636113, 51636242]]
ENST00000449723 [[51632507, 51632704], [51634126, 51634245], [51634654, 51634713], [51634779, 51634900], [51636113, 51637715]] [[51632691, 51632704], [51634126, 51634245], [51634654, 51634713], [51634779, 51634900], [51636113, 51636242]]
ENST00000552173 [[51632601, 51632704], [51634126, 51634245], [51634438, 51634554], [51634654, 51634855]] None
ENST00000549555 [[51632607, 51632704], [51634126, 51634245], [51634654, 51634823], [51636113, 51636600]] [[51632691, 51632704], [51634126, 51634245], [51634654, 51634823], [51636113, 51636436]]
ENST00000439799 [[51632609, 51632704], [51634126, 51634245], [51636113, 51636600]] [[51632691, 51632704], [51634126, 51634245], [51636113, 51636242]]
ENST00000425012 [[51632609, 51632704], [51634126, 51634245], [51634654, 51634900], [51639844, 51640501]] [[51632691, 51632704], [51634126, 51634245], [51634654, 51634900], [51639844, 51639928]]
ENST00000551919 [[51632610, 51632704], [51634654, 51634900], [51636113, 51636258]] None
ENST00000549041 [[51632620, 51632704], [51634126, 51634640]] None
ENST00000549732 [[51632637, 51632704], [51634126, 51634245], [51634750, 51634900], [51636113, 51636378]] [[51632691, 51632704], [51634126, 51634245], [51634750, 51634900], [51636113, 51636242]]
ENST00000436900 [[51632686, 51632704], [51634126, 51634245], [51634682, 51634900], [51636113, 51637569]] [[51632691, 51632704], [51634126, 51634245], [51634682, 51634772]]
ENST00000551534 [[51632688, 51632792], [51634126, 51634245], [51634654, 51634900], [51636113, 51636215]] None
ENST00000552459 [[51632691, 51634900], [51636113, 51637568]] None
ENST00000549497 [[51632697, 51632777], [51634126, 51634245], [51634654, 51634900], [51636113, 51636235]] None
ENST00000551313 [[51633078, 51633119], [51634126, 51634245], [51634654, 51634900], [51636113, 51636294]] [[51634702, 51634900], [51636113, 51636242]]
NM_001136268 [[51632507, 51632704], [51634126, 51634245], [51636113, 51637717]] [[51632691, 51632704], [51634126, 51634245], [51636113, 51636242]]
NM_001136267 [[51632507, 51632704], [51634126, 51634245], [51634750, 51634900], [51636113, 51637717]] [[51632691, 51632704], [51634126, 51634245], [51634750, 51634900], [51636113, 51636242]]
NM_001136264 [[51632507, 51632704], [51634126, 51634245], [51634654, 51634713], [51634779, 51634900], [51636113, 51637717]] [[51632691, 51632704], [51634126, 51634245], [51634654, 51634713], [51634779, 51634900], [51636113, 51636242]]
NM_001136266 [[51632507, 51632704], [51634126, 51634245], [51634654, 51634823], [51636113, 51637717]] [[51632691, 51632704], [51634126, 51634245], [51634654, 51634823], [51636113, 51636436]]
NM_014764 [[51632507, 51632704], [51634126, 51634245], [51634654, 51634900], [51636113, 51637717]] [[51632691, 51632704], [51634126, 51634245], [51634654, 51634900], [51636113, 51636242]]
NM_001136269 [[51632507, 51632704], [51634126, 51634245], [51634654, 51634900], [51639844, 51640501]] [[51632691, 51632704], [51634126, 51634245], [51634654, 51634900], [51639844, 51639928]]
Promoter
Chrom Start End Description
chr12 51632566 51632571 CAGE_peak_4_at_DAZAP2_5end
chr12 51632600 51632620 CAGE_peak_1_at_DAZAP2_5end
chr12 51632625 51632630 CAGE_peak_5_at_DAZAP2_5end
chr12 51632644 51632665 CAGE_peak_2_at_DAZAP2_5end
chr12 51632666 51632677 CAGE_peak_3_at_DAZAP2_5end
chr12 51633061 51633095 CAGE_peak_6_at_DAZAP2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I051237 51237906 51242613 2.28 [{'connected_gene': 'DAZAP2', 'score': 550.77}, {'connected_gene': 'HNRNPA3P10', 'score': 35.19}, {'connected_gene': 'ATF1', 'score': 17.87}, {'connected_gene': 'TFCP2', 'score': 14.44}, {'connected_gene': 'LIMA1', 'score': 12.49}, {'connected_gene': 'LETMD1', 'score': 10.65}, {'connected_gene': 'CSRNP2', 'score': 10.61}, {'connected_gene': 'POU6F1', 'score': 10.05}, {'connected_gene': 'ATG101', 'score': 9.84}, {'connected_gene': 'LOC102723983', 'score': 0.31}]
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 GH12I051216 51216317 51219837 1.51 [{'connected_gene': 'POU6F1', 'score': 566.3}, {'connected_gene': 'GC12P051217', 'score': 550.77}, {'connected_gene': 'DAZAP2', 'score': 0.34}]
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 GH12I051245 51245422 51248230 1.38 [{'connected_gene': 'POU6F1', 'score': 11.16}, {'connected_gene': 'RNU6-1273P', 'score': 10.77}, {'connected_gene': 'BIN2', 'score': 10.5}, {'connected_gene': 'SLC11A2', 'score': 10.21}, {'connected_gene': 'DAZAP2', 'score': 0.44}, {'connected_gene': 'SMAGP', 'score': 0.34}, {'connected_gene': 'LOC102723983', 'score': 0.34}]
chr12 GH12I051262 51262601 51263666 1.16 [{'connected_gene': 'BIN2', 'score': 15.32}, {'connected_gene': 'DAZAP2', 'score': 11.04}, {'connected_gene': 'SLC4A8', 'score': 9.8}, {'connected_gene': 'GALNT6', 'score': 9.8}, {'connected_gene': 'SMAGP', 'score': 5.63}, {'connected_gene': 'LOC102723983', 'score': 0.44}]
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 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 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 GH12I051126 51126458 51126607 0.2 [{'connected_gene': 'PHBP19', 'score': 550.77}, {'connected_gene': 'POU6F1', 'score': 11.61}, {'connected_gene': 'CSRNP2', 'score': 10.93}, {'connected_gene': 'LETMD1', 'score': 10.55}, {'connected_gene': 'DAZAP2', 'score': 10.29}, {'connected_gene': 'RNU6-1273P', 'score': 10.16}, {'connected_gene': 'SLC11A2', 'score': 9.99}, {'connected_gene': 'BIN2', 'score': 9.65}, {'connected_gene': 'GC12M051157', 'score': 0.29}, {'connected_gene': 'ENSG00000200953', 'score': 0.29}, {'connected_gene': 'TFCP2', 'score': 0.25}]
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 GH12I051118 51118511 51119447 0.57 [{'connected_gene': 'LETMD1', 'score': 19.56}, {'connected_gene': 'DAZAP2', 'score': 11.28}, {'connected_gene': 'CSRNP2', 'score': 11.27}, {'connected_gene': 'RNU6-1273P', 'score': 10.8}, {'connected_gene': 'BIN2', 'score': 9.72}, {'connected_gene': 'PHBP19', 'score': 0.44}, {'connected_gene': 'RPL35AP29', 'score': 0.39}, {'connected_gene': 'TFCP2', 'score': 0.23}]
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 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 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 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}]
chr12 GH12I051248 51248597 51248666 0.63 [{'connected_gene': 'RNU6-1273P', 'score': 10.76}, {'connected_gene': 'BIN2', 'score': 10.5}, {'connected_gene': 'SLC11A2', 'score': 10.21}, {'connected_gene': 'DAZAP2', 'score': 0.39}, {'connected_gene': 'SMAGP', 'score': 0.34}, {'connected_gene': 'LOC102723983', 'score': 0.34}]
chr12 GH12I051246 51245248 51245326 0.51 [{'connected_gene': 'RNU6-1273P', 'score': 10.77}, {'connected_gene': 'BIN2', 'score': 10.5}, {'connected_gene': 'SLC11A2', 'score': 10.21}, {'connected_gene': 'DAZAP2', 'score': 0.44}, {'connected_gene': 'LOC102723983', 'score': 0.34}, {'connected_gene': 'SMAGP', 'score': 0.31}]

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