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
ENST00000257915 [[51487445, 51489061], [51489771, 51489823], [51492558, 51492701], [51493437, 51493562], [51495717, 51495808], [51497452, 51497546], [51497937, 51497986], [51500307, 51500396], [51501018, 51501129], [51502903, 51503056], [51504659, 51504766], [51510097, 51510203], [51511453, 51511530], [51512403, 51512555], [51566083, 51566664]] [[51489023, 51489061], [51489771, 51489823], [51492558, 51492701], [51493437, 51493562], [51495717, 51495808], [51497452, 51497546], [51497937, 51497986], [51500307, 51500396], [51501018, 51501129], [51502903, 51503056], [51504659, 51504766], [51510097, 51510203], [51511453, 51511530], [51512403, 51512555], [51566083, 51566205]]
ENST00000307660 [[51487538, 51489061], [51489771, 51489823], [51492558, 51492701], [51493437, 51493562], [51495717, 51495808], [51497452, 51497546], [51497937, 51497986], [51500307, 51500396], [51501018, 51501129], [51504659, 51504766], [51510097, 51510203], [51511453, 51511530], [51512403, 51512555], [51566083, 51566926]] [[51489023, 51489061], [51489771, 51489823], [51492558, 51492701], [51493437, 51493562], [51495717, 51495808], [51497452, 51497546], [51497937, 51497986], [51500307, 51500396], [51501018, 51501129], [51504659, 51504766], [51510097, 51510203], [51511453, 51511530], [51512403, 51512555], [51566083, 51566205]]
ENST00000549867 [[51488665, 51489061], [51489771, 51489823], [51492558, 51492701], [51493437, 51493562], [51500307, 51500396], [51501018, 51501129], [51502903, 51503056], [51504659, 51504766], [51510097, 51510203], [51511453, 51511530], [51512403, 51512555], [51566083, 51566217], [51566835, 51566917]] [[51489023, 51489061], [51489771, 51489823], [51492558, 51492701], [51493437, 51493562], [51500307, 51500396], [51501018, 51501129], [51502903, 51503056], [51504659, 51504766], [51510097, 51510203], [51511453, 51511530], [51512403, 51512555], [51566083, 51566205]]
ENST00000548115 [[51489004, 51489058], [51489771, 51489823], [51492558, 51492701], [51493437, 51493562], [51495717, 51495808], [51497452, 51497546], [51497937, 51497986], [51500307, 51500396], [51501018, 51501129], [51504659, 51504766], [51510097, 51510203], [51511453, 51511530], [51512403, 51512555], [51566083, 51566695]] [[51489023, 51489058], [51489771, 51489823], [51492558, 51492701], [51493437, 51493562], [51495717, 51495808], [51497452, 51497546], [51497937, 51497986], [51500307, 51500396], [51501018, 51501129], [51504659, 51504766], [51510097, 51510203], [51511453, 51511530], [51512403, 51512555], [51566083, 51566205]]
ENST00000548108 [[51489805, 51489823], [51492558, 51492701], [51493437, 51493562], [51495717, 51495808], [51497452, 51497546], [51497937, 51497986], [51500307, 51500396], [51501018, 51501129], [51502903, 51503056], [51504659, 51504766], [51510097, 51510203], [51511453, 51511530], [51512403, 51512555], [51566383, 51566576]] [[51489805, 51489823], [51492558, 51492701], [51493437, 51493562], [51495717, 51495808], [51497452, 51497546], [51497937, 51497986], [51500307, 51500396], [51501018, 51501129], [51502903, 51503056], [51504659, 51504766], [51510097, 51510203], [51511453, 51511510]]
ENST00000546822 [[51488940, 51489061], [51489771, 51489823], [51492558, 51492701], [51493437, 51493562], [51495717, 51495808], [51497452, 51497714]] None
NM_005653 [[51487538, 51489061], [51489771, 51489823], [51492558, 51492701], [51493437, 51493562], [51495717, 51495808], [51497452, 51497546], [51497937, 51497986], [51500307, 51500396], [51501018, 51501129], [51502903, 51503056], [51504659, 51504766], [51510097, 51510203], [51511453, 51511530], [51512403, 51512555], [51566083, 51566926]] [[51489023, 51489061], [51489771, 51489823], [51492558, 51492701], [51493437, 51493562], [51495717, 51495808], [51497452, 51497546], [51497937, 51497986], [51500307, 51500396], [51501018, 51501129], [51502903, 51503056], [51504659, 51504766], [51510097, 51510203], [51511453, 51511530], [51512403, 51512555], [51566083, 51566205]]
NM_001173452 [[51487538, 51489058], [51489771, 51489823], [51492558, 51492701], [51493437, 51493562], [51495717, 51495808], [51497452, 51497546], [51497937, 51497986], [51500307, 51500396], [51501018, 51501129], [51502903, 51503056], [51504659, 51504766], [51510097, 51510203], [51511453, 51511530], [51512403, 51512555], [51566083, 51566926]] [[51489023, 51489058], [51489771, 51489823], [51492558, 51492701], [51493437, 51493562], [51495717, 51495808], [51497452, 51497546], [51497937, 51497986], [51500307, 51500396], [51501018, 51501129], [51502903, 51503056], [51504659, 51504766], [51510097, 51510203], [51511453, 51511530], [51512403, 51512555], [51566083, 51566205]]
NM_001173453 [[51487538, 51489058], [51489771, 51489823], [51492558, 51492701], [51493437, 51493562], [51495717, 51495808], [51497452, 51497546], [51497937, 51497986], [51500307, 51500396], [51501018, 51501129], [51504659, 51504766], [51510097, 51510203], [51511453, 51511530], [51512403, 51512555], [51566083, 51566926]] [[51489023, 51489058], [51489771, 51489823], [51492558, 51492701], [51493437, 51493562], [51495717, 51495808], [51497452, 51497546], [51497937, 51497986], [51500307, 51500396], [51501018, 51501129], [51504659, 51504766], [51510097, 51510203], [51511453, 51511530], [51512403, 51512555], [51566083, 51566205]]
Promoter
Chrom Start End Description
chr12 51566562 51566584 CAGE_peak_2_at_TFCP2_5end
chr12 51566592 51566617 CAGE_peak_3_at_TFCP2_5end
chr12 51566849 51566927 CAGE_peak_1_at_TFCP2_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 GH12I051143 51143043 51143352 0.32 [{'connected_gene': 'CSRNP2', 'score': 17.69}, {'connected_gene': 'RNU6-1273P', 'score': 10.52}, {'connected_gene': 'LETMD1', 'score': 10.35}, {'connected_gene': 'GC12M051157', 'score': 0.39}, {'connected_gene': 'ENSG00000200953', 'score': 0.39}, {'connected_gene': 'PHBP19', 'score': 0.37}, {'connected_gene': 'TFCP2', 'score': 0.31}]
chr12 GH12I051081 51081988 51084247 2.07 [{'connected_gene': 'CSRNP2', 'score': 559.96}, {'connected_gene': 'PIR36826', 'score': 550.77}, {'connected_gene': 'HNRNPA3P10', 'score': 36.97}, {'connected_gene': 'SMARCD1', 'score': 26.07}, {'connected_gene': 'LETMD1', 'score': 14.08}, {'connected_gene': 'TFCP2', 'score': 10.63}, {'connected_gene': 'LIMA1', 'score': 9.89}, {'connected_gene': 'ATF1', 'score': 9.74}, {'connected_gene': 'GC12M051084', 'score': 0.44}]
chr12 GH12I051170 51170401 51170600 0.38 [{'connected_gene': 'TFCP2', 'score': 0.77}, {'connected_gene': 'RNU6-199P', 'score': 0.44}]
chr12 GH12I051171 51171590 51174614 2.08 [{'connected_gene': 'TFCP2', 'score': 554.96}, {'connected_gene': 'HNRNPA3P10', 'score': 12.79}, {'connected_gene': 'SLC11A2', 'score': 9.79}, {'connected_gene': 'CSRNP2', 'score': 6.61}, {'connected_gene': 'RNU6-199P', 'score': 0.39}]
chr12 GH12I051009 51008001 51008200 0.51 [{'connected_gene': 'TFCP2', 'score': 4.37}, {'connected_gene': 'RNU7-39P', 'score': 0.77}, {'connected_gene': 'SLC11A2', 'score': 0.34}, {'connected_gene': 'ENSG00000274797', 'score': 0.23}]
chr12 GH12I052068 52068997 52071850 2.3 [{'connected_gene': 'ATG101', 'score': 564.5}, {'connected_gene': 'HNRNPA3P10', 'score': 31.16}, {'connected_gene': 'EIF4B', 'score': 15.56}, {'connected_gene': 'TFCP2', 'score': 10.5}, {'connected_gene': 'OR7E47P', 'score': 9.88}, {'connected_gene': 'KRT6C', 'score': 4.82}]
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 GH12I050612 50612604 50622998 1.58 [{'connected_gene': 'LIMA1', 'score': 33.89}, {'connected_gene': 'ATF1', 'score': 27.76}, {'connected_gene': 'SMARCD1', 'score': 15.87}, {'connected_gene': 'BCDIN3D', 'score': 14.65}, {'connected_gene': 'LETMD1', 'score': 11.13}, {'connected_gene': 'TFCP2', 'score': 10.73}, {'connected_gene': 'ENSG00000257298', 'score': 10.47}, {'connected_gene': 'DIP2B', 'score': 10.05}, {'connected_gene': 'LARP4', 'score': 9.4}, {'connected_gene': 'FAM186A', 'score': 9.4}, {'connected_gene': 'GC12P050634', 'score': 0.37}]
chr12 GH12I050246 50246189 50256711 1.98 [{'connected_gene': 'LIMA1', 'score': 564.29}, {'connected_gene': 'ENSG00000257298', 'score': 22.97}, {'connected_gene': 'PRPF40B', 'score': 20.41}, {'connected_gene': 'PRPH', 'score': 19.35}, {'connected_gene': 'LOC100422296', 'score': 18.96}, {'connected_gene': 'SMARCD1', 'score': 17.55}, {'connected_gene': 'CERS5', 'score': 16.72}, {'connected_gene': 'SPATS2', 'score': 14.6}, {'connected_gene': 'SLC11A2', 'score': 11.41}, {'connected_gene': 'ENSG00000257964', 'score': 10.47}, {'connected_gene': 'TFCP2', 'score': 9.78}, {'connected_gene': 'DIP2B', 'score': 5.97}, {'connected_gene': 'RNU6-1093P', 'score': 0.77}, {'connected_gene': 'GC12M050258', 'score': 0.77}, {'connected_gene': 'MIR1293', 'score': 0.37}]
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 GH12I051019 51019005 51030124 2.55 [{'connected_gene': 'SLC11A2', 'score': 585.82}, {'connected_gene': 'SMARCD1', 'score': 63.66}, {'connected_gene': 'HNRNPA3P10', 'score': 59.14}, {'connected_gene': 'ATF1', 'score': 51.19}, {'connected_gene': 'LIMA1', 'score': 43.24}, {'connected_gene': 'LETMD1', 'score': 41.3}, {'connected_gene': 'TFCP2', 'score': 34.34}, {'connected_gene': 'CSRNP2', 'score': 26.8}, {'connected_gene': 'ENSG00000257298', 'score': 21.8}, {'connected_gene': 'ENSG00000272368', 'score': 4.37}, {'connected_gene': 'GC12M051017', 'score': 0.39}, {'connected_gene': 'RNU6-87P', 'score': 0.39}]
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 GH12I051140 51140265 51140468 0.22 [{'connected_gene': 'SLC11A2', 'score': 12.52}, {'connected_gene': 'RNU6-1273P', 'score': 10.52}, {'connected_gene': 'CSRNP2', 'score': 10.47}, {'connected_gene': 'LETMD1', 'score': 10.35}, {'connected_gene': 'POU6F1', 'score': 1.41}, {'connected_gene': 'PHBP19', 'score': 0.39}, {'connected_gene': 'GC12M051157', 'score': 0.37}, {'connected_gene': 'ENSG00000200953', 'score': 0.37}, {'connected_gene': 'TFCP2', 'score': 0.29}]
chr12 GH12I051008 51008411 51010429 1.33 [{'connected_gene': 'SLC11A2', 'score': 585.41}, {'connected_gene': 'RNU7-39P', 'score': 550.77}, {'connected_gene': 'GC12P051011', 'score': 550.77}, {'connected_gene': 'CSRNP2', 'score': 8.29}, {'connected_gene': 'TFCP2', 'score': 4.34}, {'connected_gene': 'ENSG00000274797', 'score': 0.22}]
chr12 GH12I051884 51884031 51888400 2.22 [{'connected_gene': 'ANKRD33', 'score': 550.77}, {'connected_gene': 'HNRNPA3P10', 'score': 12.92}, {'connected_gene': 'TFCP2', 'score': 10.5}, {'connected_gene': 'CSRNP2', 'score': 9.92}, {'connected_gene': 'NR4A1', 'score': 5.4}, {'connected_gene': 'KRT78', 'score': 4.64}, {'connected_gene': 'FIGNL2', 'score': 0.28}, {'connected_gene': 'GC12P051832', 'score': 0.22}, {'connected_gene': 'GC12P051838', 'score': 0.22}, {'connected_gene': 'GC12P051835', 'score': 0.22}, {'connected_gene': 'GC12P051836', 'score': 0.22}, {'connected_gene': 'GC12P051837', 'score': 0.22}]
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 GH12I050921 50921999 50928985 2.44 [{'connected_gene': 'METTL7A', 'score': 550.77}, {'connected_gene': 'SMARCD1', 'score': 39.87}, {'connected_gene': 'SLC11A2', 'score': 30.96}, {'connected_gene': 'HNRNPA3P10', 'score': 24.17}, {'connected_gene': 'LIMA1', 'score': 20.24}, {'connected_gene': 'ATF1', 'score': 19.17}, {'connected_gene': 'LETMD1', 'score': 16.33}, {'connected_gene': 'TFCP2', 'score': 12.78}, {'connected_gene': 'ENSG00000257298', 'score': 12.05}, {'connected_gene': 'RNU6-1273P', 'score': 10.52}, {'connected_gene': 'CERS5', 'score': 7.07}, {'connected_gene': 'LARP4', 'score': 5.78}, {'connected_gene': 'PHBP19', 'score': 4.72}, {'connected_gene': 'DIP2B', 'score': 1.48}, {'connected_gene': 'ENSG00000274156', 'score': 0.44}]
chr12 GH12I050399 50399903 50403862 2.12 [{'connected_gene': 'GC12M050402', 'score': 550.77}, {'connected_gene': 'LARP4', 'score': 550.44}, {'connected_gene': 'LIMA1', 'score': 64.63}, {'connected_gene': 'SMARCD1', 'score': 59.48}, {'connected_gene': 'PRPF40B', 'score': 49.95}, {'connected_gene': 'BCDIN3D', 'score': 42.33}, {'connected_gene': 'ATF1', 'score': 39.12}, {'connected_gene': 'LOC100422296', 'score': 35.72}, {'connected_gene': 'ENSG00000257298', 'score': 30.34}, {'connected_gene': 'ENSG00000257964', 'score': 23.75}, {'connected_gene': 'TFCP2', 'score': 22.97}, {'connected_gene': 'CERS5', 'score': 21.79}, {'connected_gene': 'CSRNP2', 'score': 20.39}, {'connected_gene': 'FAM186A', 'score': 11.94}, {'connected_gene': 'FAM186B', 'score': 10.86}, {'connected_gene': 'RNU6-1093P', 'score': 10.18}, {'connected_gene': 'COX14', 'score': 9.61}]

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