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
ENST00000395472 [[55493947, 55494189], [55509669, 55516206]] [[55509759, 55511082]]
ENST00000555846 [[55493965, 55494189], [55498580, 55498709], [55509669, 55513426]] [[55509759, 55511082]]
ENST00000553735 [[55493998, 55494189], [55498606, 55498712]] None
ENST00000339298 [[55494344, 55494476], [55509669, 55516204]] [[55509759, 55511082]]
NM_080867 [[55493843, 55494189], [55509669, 55516207]] [[55509759, 55511082]]
NM_199421 [[55493843, 55494189], [55498580, 55498709], [55509669, 55516207]] [[55509759, 55511082]]
Promoter
Chrom Start End Description
chr14 55493833 55493842 CAGE_peak_6_at_SOCS4_5end
chr14 55493873 55493887 CAGE_peak_2_at_SOCS4_5end
chr14 55493920 55494013 CAGE_peak_1_at_SOCS4_5end
chr14 55494051 55494069 CAGE_peak_5_at_SOCS4_5end
chr14 55494294 55494306 CAGE_peak_7_at_SOCS4_5end
chr14 55494309 55494321 CAGE_peak_8_at_SOCS4_5end
chr14 55494323 55494330 CAGE_peak_20_at_SOCS4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I038483 38483943 38486003 1.05 [{'connected_gene': 'MED1', 'score': 15.44}, {'connected_gene': 'ARHGAP23', 'score': 12.33}, {'connected_gene': 'SOCS7', 'score': 11.39}, {'connected_gene': 'SNORA21', 'score': 10.35}, {'connected_gene': 'CDK12', 'score': 10.2}, {'connected_gene': 'RPL23', 'score': 10.17}, {'connected_gene': 'GC17P038487', 'score': 0.77}, {'connected_gene': 'PIR32449', 'score': 0.39}]
chr17 GH17I038560 38560800 38561067 0.8 [{'connected_gene': 'SRCIN1', 'score': 2.64}, {'connected_gene': 'SOCS7', 'score': 1.65}, {'connected_gene': 'LOC105371761', 'score': 0.77}, {'connected_gene': 'GC17P038534', 'score': 0.31}]
chr17 GH17I038486 38486040 38486189 0.72 [{'connected_gene': 'ARHGAP23', 'score': 12.33}, {'connected_gene': 'SOCS7', 'score': 11.39}, {'connected_gene': 'GC17P038487', 'score': 0.77}, {'connected_gene': 'PIR32449', 'score': 0.39}]
chr17 GH17I038320 38320090 38321717 0.65 [{'connected_gene': 'GPR179', 'score': 12.35}, {'connected_gene': 'SOCS7', 'score': 12.0}, {'connected_gene': 'MRPL45', 'score': 7.89}, {'connected_gene': 'PIR49079', 'score': 0.34}, {'connected_gene': 'GC17P038300', 'score': 0.34}]
chr17 GH17I038322 38322238 38322447 0.46 [{'connected_gene': 'GPR179', 'score': 12.35}, {'connected_gene': 'SOCS7', 'score': 12.02}, {'connected_gene': 'MRPL45', 'score': 6.72}, {'connected_gene': 'PIR49079', 'score': 0.34}, {'connected_gene': 'GC17P038300', 'score': 0.34}]
chr17 GH17I038324 38322058 38322207 0.31 [{'connected_gene': 'GPR179', 'score': 12.35}, {'connected_gene': 'SOCS7', 'score': 12.02}, {'connected_gene': 'PIR49079', 'score': 0.34}, {'connected_gene': 'GC17P038300', 'score': 0.34}, {'connected_gene': 'MRPL45', 'score': 0.31}]
chr14 GH14I055097 55097057 55109751 1.83 [{'connected_gene': 'LGALS3', 'score': 40.72}, {'connected_gene': 'LOC105370509', 'score': 34.62}, {'connected_gene': 'MAPK1IP1L', 'score': 25.39}, {'connected_gene': 'ATG14', 'score': 16.8}, {'connected_gene': 'SOCS4', 'score': 13.23}, {'connected_gene': 'GCH1', 'score': 12.33}, {'connected_gene': 'DLGAP5', 'score': 11.3}, {'connected_gene': 'FBXO34', 'score': 8.13}, {'connected_gene': 'ENSG00000259318', 'score': 5.61}, {'connected_gene': 'GC14M055058', 'score': 0.26}, {'connected_gene': 'GC14M055059', 'score': 0.26}, {'connected_gene': 'GC14M054989', 'score': 0.04}]
chr14 GH14I055598 55598572 55602286 1.92 [{'connected_gene': 'KTN1', 'score': 561.48}, {'connected_gene': 'KTN1-AS1', 'score': 24.86}, {'connected_gene': 'ENSG00000259318', 'score': 24.44}, {'connected_gene': 'ATG14', 'score': 19.35}, {'connected_gene': 'WDHD1', 'score': 15.08}, {'connected_gene': 'TBPL2', 'score': 10.62}, {'connected_gene': 'SOCS4', 'score': 9.74}, {'connected_gene': 'GC14P055652', 'score': 0.23}]
chr17 GH17I038740 38740736 38744374 1.43 [{'connected_gene': 'C17orf98', 'score': 36.14}, {'connected_gene': 'PCGF2', 'score': 23.16}, {'connected_gene': 'MLLT6', 'score': 15.9}, {'connected_gene': 'FBXO47', 'score': 11.18}, {'connected_gene': 'PIP4K2B', 'score': 10.55}, {'connected_gene': 'SOCS7', 'score': 5.51}, {'connected_gene': 'PSMB3', 'score': 5.45}, {'connected_gene': 'CISD3', 'score': 5.34}, {'connected_gene': 'LOC100287808', 'score': 0.44}, {'connected_gene': 'GC17M038732', 'score': 0.39}, {'connected_gene': 'RNA5SP440', 'score': 0.39}]
chr17 GH17I038841 38840162 38840457 0.94 [{'connected_gene': 'C17orf98', 'score': 584.66}, {'connected_gene': 'FBXO47', 'score': 13.67}, {'connected_gene': 'SOCS7', 'score': 5.71}, {'connected_gene': 'GC17M038833', 'score': 0.44}]
chr14 GH14I054487 54487531 54491346 2.06 [{'connected_gene': 'GMFB', 'score': 550.77}, {'connected_gene': 'ATG14', 'score': 58.94}, {'connected_gene': 'BMP4', 'score': 49.13}, {'connected_gene': 'MAPK1IP1L', 'score': 26.53}, {'connected_gene': 'SOCS4', 'score': 22.61}, {'connected_gene': 'ENSG00000259318', 'score': 22.36}, {'connected_gene': 'CGRRF1', 'score': 11.85}, {'connected_gene': 'CNIH1', 'score': 11.05}, {'connected_gene': 'WDHD1', 'score': 9.89}, {'connected_gene': 'GC14P054145', 'score': 0.05}]
chr14 GH14I054837 54837375 54840153 0.91 [{'connected_gene': 'GCH1', 'score': 8.95}, {'connected_gene': 'SOCS4', 'score': 4.76}, {'connected_gene': 'ENSG00000259318', 'score': 4.51}, {'connected_gene': 'GC14P054860', 'score': 0.34}, {'connected_gene': 'PIR45415', 'score': 0.21}]
chr14 GH14I055501 55500463 55500612 0.76 [{'connected_gene': 'ATG14', 'score': 13.1}, {'connected_gene': 'SOCS4', 'score': 13.09}, {'connected_gene': 'MAPK1IP1L', 'score': 11.59}, {'connected_gene': 'KTN1', 'score': 10.84}, {'connected_gene': 'GC14P055500', 'score': 0.77}, {'connected_gene': 'RPL7AP4', 'score': 0.26}, {'connected_gene': 'KTN1-AS1', 'score': 0.18}, {'connected_gene': 'GC14M054989', 'score': 0.18}]
chr14 GH14I055500 55500223 55500452 0.75 [{'connected_gene': 'ATG14', 'score': 13.1}, {'connected_gene': 'SOCS4', 'score': 13.09}, {'connected_gene': 'MAPK1IP1L', 'score': 11.59}, {'connected_gene': 'KTN1', 'score': 10.84}, {'connected_gene': 'GC14P055500', 'score': 0.77}, {'connected_gene': 'RPL7AP4', 'score': 0.26}, {'connected_gene': 'KTN1-AS1', 'score': 0.18}, {'connected_gene': 'GC14M054989', 'score': 0.18}]
chr14 GH14I055410 55410800 55413391 2.02 [{'connected_gene': 'ATG14', 'score': 563.7}, {'connected_gene': 'GC14M055415', 'score': 550.77}, {'connected_gene': 'LOC105370509', 'score': 18.18}, {'connected_gene': 'SOCS4', 'score': 13.09}, {'connected_gene': 'MAPK1IP1L', 'score': 11.6}, {'connected_gene': 'GC14M054989', 'score': 0.1}]
chr14 GH14I055038 55038344 55039506 0.2 [{'connected_gene': 'SOCS4', 'score': 0.39}, {'connected_gene': 'MAPK1IP1L', 'score': 0.39}, {'connected_gene': 'GC14M054989', 'score': 0.03}]
chr17 GH17I038323 38323819 38325860 0.79 [{'connected_gene': 'SOCS7', 'score': 12.64}, {'connected_gene': 'MRPL45', 'score': 9.41}, {'connected_gene': 'TBC1D3', 'score': 7.27}, {'connected_gene': 'GPR179', 'score': 0.37}, {'connected_gene': 'PIR49079', 'score': 0.31}, {'connected_gene': 'GC17P038300', 'score': 0.31}]
chr17 GH17I038507 38507755 38512140 1.14 [{'connected_gene': 'SOCS7', 'score': 10.81}, {'connected_gene': 'GC17P038504', 'score': 0.44}, {'connected_gene': 'PIR57149', 'score': 0.34}, {'connected_gene': 'ARHGAP23', 'score': 0.16}]
chr17 GH17I038350 38350577 38353321 2.06 [{'connected_gene': 'SOCS7', 'score': 550.77}, {'connected_gene': 'PIR56504', 'score': 550.77}, {'connected_gene': 'GPR179', 'score': 16.48}, {'connected_gene': 'ARHGAP23', 'score': 11.58}]
chr17 GH17I038327 38327138 38327287 0.31 [{'connected_gene': 'SOCS7', 'score': 12.67}, {'connected_gene': 'GPR179', 'score': 0.37}, {'connected_gene': 'PIR49079', 'score': 0.31}, {'connected_gene': 'GC17P038300', 'score': 0.31}]
chr17 GH17I038326 38326677 38327113 0.31 [{'connected_gene': 'SOCS7', 'score': 12.64}, {'connected_gene': 'GPR179', 'score': 0.37}, {'connected_gene': 'PIR49079', 'score': 0.31}, {'connected_gene': 'GC17P038300', 'score': 0.31}]
chr17 GH17I038269 38269976 38270523 0.31 [{'connected_gene': 'SOCS7', 'score': 10.7}, {'connected_gene': 'GC17M038268', 'score': 0.77}, {'connected_gene': 'LOC440434', 'score': 0.39}, {'connected_gene': 'LOC105371760', 'score': 0.31}]
chr17 GH17I038268 38268543 38269850 0.57 [{'connected_gene': 'SOCS7', 'score': 10.7}, {'connected_gene': 'GC17M038268', 'score': 0.77}, {'connected_gene': 'LOC440434', 'score': 0.39}, {'connected_gene': 'LOC105371760', 'score': 0.31}]
chr17 GH17I038437 38437773 38438831 0.2 [{'connected_gene': 'SOCS7', 'score': 11.29}, {'connected_gene': 'CISD3', 'score': 10.46}, {'connected_gene': 'ARHGAP23', 'score': 6.46}, {'connected_gene': 'GC17M038445', 'score': 0.44}, {'connected_gene': 'PIR40196', 'score': 0.44}, {'connected_gene': 'GC17P038495', 'score': 0.44}]
chr14 GH14I054843 54843368 54846276 0.63 [{'connected_gene': 'SOCS4', 'score': 4.78}, {'connected_gene': 'GCH1', 'score': 4.77}, {'connected_gene': 'GC14P054860', 'score': 0.39}, {'connected_gene': 'PIR45415', 'score': 0.2}]
chr14 GH14I055025 55025394 55028859 2.08 [{'connected_gene': 'SOCS4', 'score': 550.77}, {'connected_gene': 'WDHD1', 'score': 550.77}, {'connected_gene': 'MAPK1IP1L', 'score': 24.83}, {'connected_gene': 'LOC105370509', 'score': 19.12}, {'connected_gene': 'ENSG00000259318', 'score': 11.86}, {'connected_gene': 'GC14M054989', 'score': 0.03}]
chr17 GH17I038360 38360989 38361406 0.31 [{'connected_gene': 'SOCS7', 'score': 0.44}, {'connected_gene': 'GC17P038368', 'score': 0.44}, {'connected_gene': 'PIR54745', 'score': 0.44}]
chr17 GH17I038357 38357401 38358000 0.38 [{'connected_gene': 'SOCS7', 'score': 0.44}, {'connected_gene': 'GC17P038368', 'score': 0.44}, {'connected_gene': 'PIR54745', 'score': 0.44}]
chr17 GH17I038358 38358801 38359000 0.31 [{'connected_gene': 'SOCS7', 'score': 0.44}, {'connected_gene': 'GC17P038368', 'score': 0.44}, {'connected_gene': 'PIR54745', 'score': 0.44}]
chr14 GH14I055802 55802243 55808541 1.63 [{'connected_gene': 'LOC105370515', 'score': 14.62}, {'connected_gene': 'SOCS4', 'score': 13.07}, {'connected_gene': 'ATG14', 'score': 12.98}, {'connected_gene': 'MAPK1IP1L', 'score': 11.57}, {'connected_gene': 'LINC00520', 'score': 0.44}, {'connected_gene': 'PIR35523', 'score': 0.29}]
chr14 GH14I054395 54395883 54398618 2.01 [{'connected_gene': 'CDKN3', 'score': 550.77}, {'connected_gene': 'MAPK1IP1L', 'score': 28.06}, {'connected_gene': 'SOCS4', 'score': 14.16}, {'connected_gene': 'WDHD1', 'score': 13.83}, {'connected_gene': 'BMP4', 'score': 11.3}, {'connected_gene': 'CNIH1', 'score': 7.68}, {'connected_gene': 'GC14P054145', 'score': 0.07}]
chr17 GH17I038403 38403117 38403217 0.38 [{'connected_gene': 'PIR40377', 'score': 550.77}, {'connected_gene': 'GC17P038492', 'score': 550.77}, {'connected_gene': 'PIR54681', 'score': 550.77}, {'connected_gene': 'PIR51630', 'score': 550.77}, {'connected_gene': 'PIR53205', 'score': 550.77}, {'connected_gene': 'GC17P038490', 'score': 550.77}, {'connected_gene': 'MRPL45', 'score': 4.77}, {'connected_gene': 'SOCS7', 'score': 0.23}]
chr17 GH17I038404 38403828 38404630 0.72 [{'connected_gene': 'PIR54681', 'score': 550.77}, {'connected_gene': 'GC17P038492', 'score': 550.77}, {'connected_gene': 'PIR53205', 'score': 550.77}, {'connected_gene': 'PIR40377', 'score': 550.77}, {'connected_gene': 'MRPL45', 'score': 4.77}, {'connected_gene': 'GC17P038493', 'score': 0.44}, {'connected_gene': 'SOCS7', 'score': 0.23}]
chr17 GH17I038419 38419617 38423178 1.31 [{'connected_gene': 'GC17M038423', 'score': 550.77}, {'connected_gene': 'PIR51176', 'score': 550.77}, {'connected_gene': 'GC17P038497', 'score': 550.77}, {'connected_gene': 'GPR179', 'score': 10.46}, {'connected_gene': 'SRCIN1', 'score': 3.86}, {'connected_gene': 'SOCS7', 'score': 2.43}, {'connected_gene': 'ARHGAP23', 'score': 2.05}]
chr17 GH17I038405 38403568 38403757 0.54 [{'connected_gene': 'PIR40377', 'score': 550.77}, {'connected_gene': 'GC17P038492', 'score': 550.77}, {'connected_gene': 'PIR54681', 'score': 550.77}, {'connected_gene': 'PIR51630', 'score': 550.77}, {'connected_gene': 'PIR53205', 'score': 550.77}, {'connected_gene': 'GC17P038490', 'score': 550.77}, {'connected_gene': 'GC17P038493', 'score': 0.44}, {'connected_gene': 'SOCS7', 'score': 0.23}]
chr17 GH17I038600 38600370 38603582 1.55 [{'connected_gene': 'ENSG00000274996', 'score': 550.77}, {'connected_gene': 'GC17P038603', 'score': 550.77}, {'connected_gene': 'LOC105371762', 'score': 18.76}, {'connected_gene': 'CDK12', 'score': 18.37}, {'connected_gene': 'MED1', 'score': 12.12}, {'connected_gene': 'RPL19', 'score': 10.22}, {'connected_gene': 'SRCIN1', 'score': 4.62}, {'connected_gene': 'PIP4K2B', 'score': 2.54}, {'connected_gene': 'SOCS7', 'score': 2.37}, {'connected_gene': 'GPR179', 'score': 1.49}, {'connected_gene': 'ARHGAP23', 'score': 1.27}]

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