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
ENST00000534108 [[28603263, 28603461], [28603583, 28603802], [28604572, 28604667], [28604762, 28604889], [28606687, 28606996], [28607103, 28607695]] [[28604585, 28604667], [28604762, 28604889], [28606687, 28606996], [28607103, 28607251]]
ENST00000533150 [[28603263, 28603461], [28603583, 28603802], [28606687, 28606996], [28607103, 28608368]] [[28603348, 28603461], [28603583, 28603802], [28606687, 28606996], [28607103, 28607251]]
ENST00000335715 [[28603263, 28603461], [28603583, 28603764], [28604572, 28604667], [28604762, 28604889], [28606687, 28606785], [28606870, 28606996], [28607103, 28607255], [28608317, 28608430]] [[28603348, 28603461], [28603583, 28603764], [28604572, 28604667], [28604762, 28604889], [28606687, 28606785], [28606870, 28606996], [28607103, 28607251]]
ENST00000395630 [[28603265, 28603461], [28603583, 28603764], [28604572, 28604667], [28604762, 28604889], [28606687, 28606785], [28606870, 28606996], [28607103, 28607255], [28607454, 28607801]] [[28603348, 28603461], [28603583, 28603764], [28604572, 28604667], [28604762, 28604889], [28606687, 28606785], [28606870, 28606996], [28607103, 28607251]]
ENST00000526384 [[28604590, 28604667], [28604762, 28604889], [28606687, 28606785], [28606870, 28606996], [28607103, 28607286], [28607454, 28607616]] [[28604590, 28604667], [28604762, 28604889], [28606687, 28606785], [28606870, 28606996], [28607103, 28607251]]
NM_177528 [[28603263, 28603461], [28603583, 28603764], [28604572, 28604667], [28604762, 28604889], [28606687, 28606785], [28606870, 28606996], [28607103, 28607255], [28607454, 28607801]] [[28603348, 28603461], [28603583, 28603764], [28604572, 28604667], [28604762, 28604889], [28606687, 28606785], [28606870, 28606996], [28607103, 28607251]]
NM_001054 [[28603263, 28603461], [28603583, 28603764], [28604572, 28604667], [28604762, 28604889], [28606687, 28606785], [28606870, 28606996], [28607103, 28607255], [28608317, 28608391]] [[28603348, 28603461], [28603583, 28603764], [28604572, 28604667], [28604762, 28604889], [28606687, 28606785], [28606870, 28606996], [28607103, 28607251]]
Promoter
Chrom Start End Description
chr16 28608364 28608377 CAGE_peak_1_at_SULT1A2_5end
chr16 28608383 28608394 CAGE_peak_4_at_SULT1A2_5end
chr16 28608399 28608412 CAGE_peak_2_at_SULT1A2_5end
chr16 28608424 28608435 CAGE_peak_3_at_SULT1A2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I028930 28930037 28933520 1.69 [{'connected_gene': 'CD19', 'score': 550.77}, {'connected_gene': 'TUFM', 'score': 31.21}, {'connected_gene': 'SULT1A2', 'score': 15.11}, {'connected_gene': 'CDC37P1', 'score': 8.46}, {'connected_gene': 'KCTD13', 'score': 5.21}, {'connected_gene': 'EIF3C', 'score': 4.23}, {'connected_gene': 'SMG1P2', 'score': 4.04}, {'connected_gene': 'RABEP2', 'score': 0.77}, {'connected_gene': 'GC16P028929', 'score': 0.77}]
chr16 GH16I028688 28688400 28689001 1 [{'connected_gene': 'EIF3C', 'score': 550.77}, {'connected_gene': 'PIR49925', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 12.77}, {'connected_gene': 'TUFM', 'score': 12.34}, {'connected_gene': 'PIR51067', 'score': 0.44}, {'connected_gene': 'PIRC86', 'score': 0.44}, {'connected_gene': 'ENSG00000261419', 'score': 0.23}]
chr16 GH16I028950 28950121 28952518 2.03 [{'connected_gene': 'NFATC2IP', 'score': 588.38}, {'connected_gene': 'SGF29', 'score': 36.07}, {'connected_gene': 'ATXN2L', 'score': 26.78}, {'connected_gene': 'ENSG00000260853', 'score': 25.74}, {'connected_gene': 'SMG1P2', 'score': 24.57}, {'connected_gene': 'SPNS1', 'score': 20.45}, {'connected_gene': 'ENSG00000260367', 'score': 18.21}, {'connected_gene': 'EIF3C', 'score': 14.91}, {'connected_gene': 'SULT1A2', 'score': 14.84}, {'connected_gene': 'NPIPB8', 'score': 13.25}, {'connected_gene': 'NPIPB10P', 'score': 12.59}, {'connected_gene': 'CLN3', 'score': 10.71}, {'connected_gene': 'EIF3CL', 'score': 10.33}, {'connected_gene': 'MVP', 'score': 10.18}, {'connected_gene': 'ENSG00000238045', 'score': 9.78}, {'connected_gene': 'KCTD13', 'score': 4.89}, {'connected_gene': 'TMEM219', 'score': 4.67}, {'connected_gene': 'MIR4517', 'score': 0.44}]
chr16 GH16I028983 28983904 28991053 1.54 [{'connected_gene': 'LAT', 'score': 550.77}, {'connected_gene': 'TUFM', 'score': 25.04}, {'connected_gene': 'SULT1A2', 'score': 14.9}, {'connected_gene': 'CDC37P1', 'score': 6.74}, {'connected_gene': 'KCTD13', 'score': 4.37}, {'connected_gene': 'ENSG00000261552', 'score': 0.77}, {'connected_gene': 'ENSG00000261067', 'score': 0.39}, {'connected_gene': 'SPNS1', 'score': 0.39}]
chr16 GH16I028973 28973536 28975907 2.11 [{'connected_gene': 'SPNS1', 'score': 572.31}, {'connected_gene': 'ENSG00000261067', 'score': 550.77}, {'connected_gene': 'ENSG00000261766', 'score': 31.77}, {'connected_gene': 'ATXN2L', 'score': 28.09}, {'connected_gene': 'NPIPB12', 'score': 25.64}, {'connected_gene': 'NFATC2IP', 'score': 23.99}, {'connected_gene': 'ENSG00000260853', 'score': 22.39}, {'connected_gene': 'CDIPT', 'score': 18.97}, {'connected_gene': 'SULT1A2', 'score': 14.88}, {'connected_gene': 'ENSG00000247735', 'score': 12.78}, {'connected_gene': 'NPIPB9', 'score': 12.18}, {'connected_gene': 'SMG1P2', 'score': 11.81}, {'connected_gene': 'RABEP2', 'score': 11.81}, {'connected_gene': 'ENSG00000260367', 'score': 11.8}, {'connected_gene': 'CD19', 'score': 11.79}, {'connected_gene': 'ENSG00000260114', 'score': 11.71}, {'connected_gene': 'ENSG00000260796', 'score': 11.57}, {'connected_gene': 'RPS15AP33', 'score': 11.51}, {'connected_gene': 'ENSG00000198106', 'score': 11.21}, {'connected_gene': 'ENSG00000251417', 'score': 10.96}, {'connected_gene': 'NPIPB6', 'score': 10.15}, {'connected_gene': 'SH2B1', 'score': 9.89}, {'connected_gene': 'KCTD13', 'score': 4.36}]
chr16 GH16I028622 28622332 28624209 1.85 [{'connected_gene': 'NPIPB8', 'score': 550.77}, {'connected_gene': 'SULT1A1', 'score': 550.77}, {'connected_gene': 'TUFM', 'score': 9.25}, {'connected_gene': 'SULT1A2', 'score': 4.53}, {'connected_gene': 'PIR38771', 'score': 0.44}]
chr16 GH16I028608 28608554 28611695 1.86 [{'connected_gene': 'SULT1A1', 'score': 555.27}, {'connected_gene': 'GC16P028612', 'score': 550.77}, {'connected_gene': 'GC16P028613', 'score': 550.77}, {'connected_gene': 'PIR42160', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 42.5}, {'connected_gene': 'ENSG00000251417', 'score': 7.09}, {'connected_gene': 'TUFM', 'score': 5.21}, {'connected_gene': 'PIR36325', 'score': 0.77}]
chr16 GH16I028542 28542601 28544525 1.02 [{'connected_gene': 'SULT1A2', 'score': 60.18}, {'connected_gene': 'TUFM', 'score': 28.42}, {'connected_gene': 'NPIPB7', 'score': 12.19}, {'connected_gene': 'CLN3', 'score': 11.9}, {'connected_gene': 'APOBR', 'score': 11.9}, {'connected_gene': 'CD19', 'score': 10.36}, {'connected_gene': 'RABEP2', 'score': 10.36}, {'connected_gene': 'IL27', 'score': 6.11}, {'connected_gene': 'ENSG00000251417', 'score': 4.3}, {'connected_gene': 'SULT1A1', 'score': 1.93}, {'connected_gene': 'NUPR1', 'score': 0.77}, {'connected_gene': 'ENSG00000271495', 'score': 0.44}]
chr16 GH16I028595 28595801 28598825 1.83 [{'connected_gene': 'SULT1A2', 'score': 591.46}, {'connected_gene': 'GC16P028596', 'score': 550.77}, {'connected_gene': 'TUFM', 'score': 40.0}, {'connected_gene': 'SGF29', 'score': 12.17}, {'connected_gene': 'ENSG00000278665', 'score': 0.77}]
chr16 GH16I028478 28478455 28479427 0.2 [{'connected_gene': 'SULT1A2', 'score': 55.96}, {'connected_gene': 'NPIPB7', 'score': 0.44}, {'connected_gene': 'ENSG00000261832', 'score': 0.39}, {'connected_gene': 'CLN3', 'score': 0.37}]
chr16 GH16I028480 28480406 28481408 0.66 [{'connected_gene': 'SULT1A2', 'score': 56.79}, {'connected_gene': 'NPIPB7', 'score': 0.44}, {'connected_gene': 'ENSG00000261832', 'score': 0.39}, {'connected_gene': 'CLN3', 'score': 0.39}]
chr16 GH16I028947 28947551 28948629 0.84 [{'connected_gene': 'SULT1A2', 'score': 14.67}, {'connected_gene': 'KCTD13', 'score': 5.3}, {'connected_gene': 'NFATC2IP', 'score': 0.77}, {'connected_gene': 'RABEP2', 'score': 0.39}]
chr16 GH16I028572 28572235 28573674 0.51 [{'connected_gene': 'SULT1A2', 'score': 41.83}, {'connected_gene': 'CLN3', 'score': 11.32}, {'connected_gene': 'APOBR', 'score': 11.32}, {'connected_gene': 'NPIPB7', 'score': 11.08}, {'connected_gene': 'GC16M028560', 'score': 0.77}, {'connected_gene': 'SGF29', 'score': 0.37}, {'connected_gene': 'GC16P028596', 'score': 0.34}]
chr16 GH16I028371 28371601 28372200 0.31 [{'connected_gene': 'SULT1A2', 'score': 37.38}, {'connected_gene': 'LOC105369182', 'score': 0.44}, {'connected_gene': 'GC16P028377', 'score': 0.44}, {'connected_gene': 'GC16P028319', 'score': 0.23}]
chr16 GH16I028490 28490586 28497469 2.29 [{'connected_gene': 'APOBR', 'score': 555.53}, {'connected_gene': 'ENSG00000261832', 'score': 550.77}, {'connected_gene': 'CLN3', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 59.23}, {'connected_gene': 'ENSG00000261766', 'score': 20.85}, {'connected_gene': 'ENSG00000251417', 'score': 19.55}, {'connected_gene': 'SH2B1', 'score': 13.8}, {'connected_gene': 'ENSG00000260853', 'score': 13.74}, {'connected_gene': 'SPNS1', 'score': 12.63}, {'connected_gene': 'ATXN2L', 'score': 12.06}, {'connected_gene': 'NFATC2IP', 'score': 11.75}, {'connected_gene': 'ENSG00000198106', 'score': 11.18}, {'connected_gene': 'ENSG00000260367', 'score': 11.07}, {'connected_gene': 'CDC37P1', 'score': 8.17}, {'connected_gene': 'TUFM', 'score': 5.26}, {'connected_gene': 'PIR42003', 'score': 0.77}, {'connected_gene': 'PIR49782', 'score': 0.77}, {'connected_gene': 'GC16P028499', 'score': 0.77}, {'connected_gene': 'GC16P028497', 'score': 0.77}]
chr16 GH16I028849 28849656 28850048 0.24 [{'connected_gene': 'CDC37P1', 'score': 10.57}, {'connected_gene': 'SULT1A2', 'score': 4.27}, {'connected_gene': 'SH2B1', 'score': 0.77}, {'connected_gene': 'PIR60270', 'score': 0.39}, {'connected_gene': 'GC16M028787', 'score': 0.28}]
chr16 GH16I028537 28537076 28540052 1.98 [{'connected_gene': 'NUPR1', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 39.2}, {'connected_gene': 'TUFM', 'score': 28.68}, {'connected_gene': 'ENSG00000271623', 'score': 4.19}, {'connected_gene': 'PIR42560', 'score': 0.44}]
chr16 GH16I028861 28861845 28867395 2.11 [{'connected_gene': 'SH2B1', 'score': 565.66}, {'connected_gene': 'ENSG00000261766', 'score': 565.6}, {'connected_gene': 'TUFM', 'score': 58.99}, {'connected_gene': 'ATXN2L', 'score': 40.14}, {'connected_gene': 'NPIPB12', 'score': 26.73}, {'connected_gene': 'NFATC2IP', 'score': 25.91}, {'connected_gene': 'ENSG00000260853', 'score': 24.31}, {'connected_gene': 'SULT1A2', 'score': 19.83}, {'connected_gene': 'NPIPB10P', 'score': 19.32}, {'connected_gene': 'ENSG00000198106', 'score': 17.87}, {'connected_gene': 'SPNS1', 'score': 16.18}, {'connected_gene': 'SMG1P2', 'score': 13.41}, {'connected_gene': 'ENSG00000260367', 'score': 12.73}, {'connected_gene': 'CD19', 'score': 12.41}, {'connected_gene': 'RABEP2', 'score': 12.4}, {'connected_gene': 'ENSG00000251417', 'score': 12.39}, {'connected_gene': 'SGF29', 'score': 11.98}, {'connected_gene': 'CDC37P1', 'score': 10.57}, {'connected_gene': 'ENSG00000260796', 'score': 10.32}, {'connected_gene': 'ENSG00000238045', 'score': 9.83}, {'connected_gene': 'PAWRP2', 'score': 6.16}, {'connected_gene': 'ATP2A1', 'score': 0.39}, {'connected_gene': 'GC16M028787', 'score': 0.34}]
chr16 GH16I028503 28503627 28508600 1.68 [{'connected_gene': 'IL27', 'score': 550.34}, {'connected_gene': 'TUFM', 'score': 35.0}, {'connected_gene': 'SULT1A2', 'score': 8.54}, {'connected_gene': 'CDC37P1', 'score': 4.73}, {'connected_gene': 'GC16P028499', 'score': 0.44}, {'connected_gene': 'PIR49782', 'score': 0.44}]
chr16 GH16I028525 28525496 28529342 0.94 [{'connected_gene': 'IL27', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 60.14}, {'connected_gene': 'TUFM', 'score': 35.42}, {'connected_gene': 'CLN3', 'score': 18.13}, {'connected_gene': 'APOBR', 'score': 12.87}, {'connected_gene': 'NPIPB7', 'score': 12.14}, {'connected_gene': 'SGF29', 'score': 12.08}, {'connected_gene': 'ENSG00000251417', 'score': 6.01}, {'connected_gene': 'PIR42560', 'score': 0.44}]
chr16 GH16I028524 28524413 28525226 0.68 [{'connected_gene': 'IL27', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 60.1}, {'connected_gene': 'CLN3', 'score': 12.75}, {'connected_gene': 'APOBR', 'score': 12.73}, {'connected_gene': 'ENSG00000251417', 'score': 5.97}, {'connected_gene': 'GC16P028499', 'score': 0.31}, {'connected_gene': 'PIR49782', 'score': 0.31}]
chr16 GH16I028553 28553280 28554939 2.08 [{'connected_gene': 'SGF29', 'score': 562.69}, {'connected_gene': 'ENSG00000275441', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 58.44}, {'connected_gene': 'ATXN2L', 'score': 18.52}, {'connected_gene': 'NFATC2IP', 'score': 16.98}, {'connected_gene': 'SPNS1', 'score': 16.08}, {'connected_gene': 'ENSG00000260853', 'score': 15.36}, {'connected_gene': 'ENSG00000260367', 'score': 12.64}, {'connected_gene': 'NPIPB12', 'score': 12.03}, {'connected_gene': 'NPIPB10P', 'score': 10.31}, {'connected_gene': 'ENSG00000198106', 'score': 9.66}, {'connected_gene': 'SULT1A1', 'score': 4.93}]
chr16 GH16I028635 28635193 28637229 0.87 [{'connected_gene': 'PIR57051', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 32.49}, {'connected_gene': 'PIR45227', 'score': 0.77}, {'connected_gene': 'NPIPB8', 'score': 0.39}]
chr16 GH16I028612 28612001 28614568 0.4 [{'connected_gene': 'GC16P028613', 'score': 550.77}, {'connected_gene': 'GC16P028612', 'score': 550.77}, {'connected_gene': 'PIR38771', 'score': 550.77}, {'connected_gene': 'PIR42160', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 8.27}, {'connected_gene': 'TUFM', 'score': 4.82}, {'connected_gene': 'SULT1A1', 'score': 0.39}]
chr16 GH16I028531 28531802 28535509 1.31 [{'connected_gene': 'PIR42560', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 59.53}, {'connected_gene': 'TUFM', 'score': 27.5}, {'connected_gene': 'APOBR', 'score': 13.79}, {'connected_gene': 'SGF29', 'score': 12.1}, {'connected_gene': 'NPIPB7', 'score': 12.1}, {'connected_gene': 'CLN3', 'score': 11.85}, {'connected_gene': 'IL27', 'score': 10.81}, {'connected_gene': 'ENSG00000251417', 'score': 4.34}, {'connected_gene': 'SULT1A1', 'score': 3.37}, {'connected_gene': 'SPNS1', 'score': 2.75}, {'connected_gene': 'EIF3CL', 'score': 2.54}, {'connected_gene': 'EIF3C', 'score': 2.51}, {'connected_gene': 'NUPR1', 'score': 0.44}]
chr16 GH16I028599 28599001 28601668 0.51 [{'connected_gene': 'ENSG00000278665', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 18.65}, {'connected_gene': 'TUFM', 'score': 8.96}, {'connected_gene': 'GC16P028596', 'score': 0.77}]
chr16 GH16I028316 28316909 28317749 0.75 [{'connected_gene': 'GC16P028319', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 4.67}, {'connected_gene': 'ENSG00000246465', 'score': 0.31}, {'connected_gene': 'SBK1', 'score': 0.22}]
chr16 GH16I028291 28291511 28294018 1.93 [{'connected_gene': 'ENSG00000246465', 'score': 550.77}, {'connected_gene': 'SBK1', 'score': 550.29}, {'connected_gene': 'SULT1A2', 'score': 13.75}, {'connected_gene': 'NPIPB7', 'score': 10.38}, {'connected_gene': 'EIF3C', 'score': 5.57}, {'connected_gene': 'CDC37P1', 'score': 4.63}, {'connected_gene': 'GC16P028319', 'score': 0.31}, {'connected_gene': 'ENSG00000283662', 'score': 0.29}]
chr16 GH16I028743 28743001 28743600 0.46 [{'connected_gene': 'PIR47207', 'score': 550.77}, {'connected_gene': 'NPIPB9', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 47.2}]

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