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
ENST00000322203 [[35436184, 35436216], [35436575, 35436650], [35436723, 35436804], [35437157, 35437306], [35437955, 35438128], [35438356, 35438562]] [[35436211, 35436216], [35436575, 35436650], [35436723, 35436804], [35437157, 35437306], [35437955, 35438128], [35438356, 35438527]]
ENST00000467020 [[35436184, 35436216], [35436575, 35436650], [35436723, 35437306], [35437955, 35438128], [35438356, 35438562]] None
ENST00000490335 [[35436196, 35436216], [35436575, 35436804], [35437157, 35437306], [35437955, 35438128], [35438356, 35438417]] None
ENST00000464112 [[35436196, 35436650], [35436723, 35436804], [35437157, 35437306], [35437955, 35438128], [35438356, 35438562]] None
ENST00000478340 [[35436196, 35436216], [35436575, 35436650], [35436723, 35437062], [35437157, 35437306], [35437955, 35438128], [35438356, 35438562]] None
NM_007104 [[35436177, 35436216], [35436575, 35436650], [35436723, 35436804], [35437157, 35437306], [35437955, 35438128], [35438356, 35438558]] [[35436211, 35436216], [35436575, 35436650], [35436723, 35436804], [35437157, 35437306], [35437955, 35438128], [35438356, 35438527]]
Promoter
Chrom Start End Description
chr6 35436143 35436162 CAGE_peak_2_at_RPL10A_5end
chr6 35436167 35436194 CAGE_peak_1_at_RPL10A_5end
chr6 35436198 35436226 CAGE_peak_3_at_RPL10A_5end
chr6 35436233 35436244 CAGE_peak_4_at_RPL10A_5end
chr6 35437681 35437687 CAGE_peak_9_at_RPL10A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I035258 35258164 35262233 2.44 [{'connected_gene': 'ZNF76', 'score': 581.98}, {'connected_gene': 'GC06M038602', 'score': 550.77}, {'connected_gene': 'LOC101929285', 'score': 550.77}, {'connected_gene': 'TAF11', 'score': 77.83}, {'connected_gene': 'ENSG00000272374', 'score': 36.28}, {'connected_gene': 'DEF6', 'score': 20.67}, {'connected_gene': 'RPL10A', 'score': 13.27}, {'connected_gene': 'RPS10', 'score': 11.8}, {'connected_gene': 'ENSG00000219023', 'score': 11.73}, {'connected_gene': 'TCP11', 'score': 11.24}, {'connected_gene': 'BRPF3', 'score': 10.5}, {'connected_gene': 'FANCE', 'score': 10.12}, {'connected_gene': 'ANKS1A', 'score': 9.85}, {'connected_gene': 'MAPK14', 'score': 9.75}, {'connected_gene': 'PPARD', 'score': 7.4}, {'connected_gene': 'C6orf106', 'score': 4.23}, {'connected_gene': 'ENSG00000217004', 'score': 0.37}]
chr6 GH06I035483 35483528 35501594 3.19 [{'connected_gene': 'TEAD3', 'score': 579.18}, {'connected_gene': 'TAF11', 'score': 18.69}, {'connected_gene': 'ENSG00000228559', 'score': 13.57}, {'connected_gene': 'RPL10A', 'score': 13.54}, {'connected_gene': 'ENSG00000219023', 'score': 11.88}, {'connected_gene': 'ZNF76', 'score': 10.54}, {'connected_gene': 'MAPK14', 'score': 9.76}, {'connected_gene': 'TULP1', 'score': 6.02}, {'connected_gene': 'UHRF1BP1', 'score': 5.15}, {'connected_gene': 'DEF6', 'score': 4.43}, {'connected_gene': 'MIR7111', 'score': 0.34}]
chr6 GH06I034886 34886756 34892632 2.32 [{'connected_gene': 'TAF11', 'score': 571.8}, {'connected_gene': 'ANKS1A', 'score': 550.77}, {'connected_gene': 'RPS10', 'score': 21.89}, {'connected_gene': 'RPL10A', 'score': 21.72}, {'connected_gene': 'UHRF1BP1', 'score': 19.59}, {'connected_gene': 'FKBP5', 'score': 18.5}, {'connected_gene': 'ENSG00000219023', 'score': 11.69}, {'connected_gene': 'ZNF76', 'score': 10.52}, {'connected_gene': 'TEAD3', 'score': 10.45}, {'connected_gene': 'TCP11', 'score': 6.12}, {'connected_gene': 'PIR53548', 'score': 0.16}, {'connected_gene': 'GC06P041898', 'score': 0.16}]
chr6 GH06I035594 35594849 35604777 1.7 [{'connected_gene': 'TAF11', 'score': 31.61}, {'connected_gene': 'ENSG00000272374', 'score': 23.37}, {'connected_gene': 'FKBP5', 'score': 13.63}, {'connected_gene': 'ZNF76', 'score': 12.49}, {'connected_gene': 'ENSG00000212579', 'score': 12.13}, {'connected_gene': 'ENSG00000232909', 'score': 11.67}, {'connected_gene': 'ARMC12', 'score': 11.67}, {'connected_gene': 'ENSG00000228559', 'score': 10.28}, {'connected_gene': 'ANKS1A', 'score': 9.83}, {'connected_gene': 'TULP1', 'score': 7.45}, {'connected_gene': 'DEF6', 'score': 7.07}, {'connected_gene': 'MAPK14', 'score': 3.6}, {'connected_gene': 'RPL10A', 'score': 2.71}, {'connected_gene': 'PPARD', 'score': 2.69}, {'connected_gene': 'SLC26A8', 'score': 1.76}, {'connected_gene': 'RPL36P9', 'score': 0.44}, {'connected_gene': 'ENSG00000219023', 'score': 0.26}]
chr6 GH06I034756 34756400 34758584 2.11 [{'connected_gene': 'SNRPC', 'score': 550.77}, {'connected_gene': 'UHRF1BP1', 'score': 54.97}, {'connected_gene': 'LEMD2', 'score': 43.38}, {'connected_gene': 'TAF11', 'score': 24.22}, {'connected_gene': 'FKBP5', 'score': 18.5}, {'connected_gene': 'RPS10', 'score': 11.87}, {'connected_gene': 'TEAD3', 'score': 10.45}, {'connected_gene': 'ZNF76', 'score': 10.36}, {'connected_gene': 'RPL10A', 'score': 10.27}, {'connected_gene': 'FANCE', 'score': 10.08}]
chr6 GH06I036302 36302401 36303000 1.15 [{'connected_gene': 'SRSF3', 'score': 17.94}, {'connected_gene': 'ENSG00000219023', 'score': 14.36}, {'connected_gene': 'RPL10A', 'score': 13.22}, {'connected_gene': 'C6orf222', 'score': 12.22}, {'connected_gene': 'PNPLA1', 'score': 10.72}, {'connected_gene': 'MAPK13', 'score': 10.5}, {'connected_gene': 'MAPK14', 'score': 9.79}, {'connected_gene': 'RAB44', 'score': 9.48}, {'connected_gene': 'SLC26A8', 'score': 9.31}, {'connected_gene': 'LOC105375036', 'score': 0.23}]
chr6 GH06I034817 34817201 34817599 0.46 [{'connected_gene': 'UHRF1BP1', 'score': 21.53}, {'connected_gene': 'TAF11', 'score': 15.15}, {'connected_gene': 'RPL10A', 'score': 10.88}, {'connected_gene': 'RPS10', 'score': 10.48}, {'connected_gene': 'ENSG00000219023', 'score': 10.31}, {'connected_gene': 'FANCE', 'score': 9.72}, {'connected_gene': 'ENSG00000206717', 'score': 0.77}]
chr6 GH06I034739 34739840 34741221 0.77 [{'connected_gene': 'UHRF1BP1', 'score': 53.67}, {'connected_gene': 'RPL10A', 'score': 14.59}, {'connected_gene': 'LEMD2', 'score': 14.13}, {'connected_gene': 'RPS10', 'score': 13.29}, {'connected_gene': 'ENSG00000219023', 'score': 12.7}, {'connected_gene': 'TAF11', 'score': 10.85}, {'connected_gene': 'RPS10P13', 'score': 0.77}, {'connected_gene': 'LOC105375029', 'score': 0.34}]
chr6 GH06I035366 35366872 35372201 1.74 [{'connected_gene': 'PPARD', 'score': 31.66}, {'connected_gene': 'DEF6', 'score': 8.17}, {'connected_gene': 'UHRF1BP1', 'score': 8.02}, {'connected_gene': 'SNRPC', 'score': 4.83}, {'connected_gene': 'ARMC12', 'score': 4.8}, {'connected_gene': 'C6orf106', 'score': 4.22}, {'connected_gene': 'ZNF76', 'score': 1.95}, {'connected_gene': 'RPL10A', 'score': 1.25}, {'connected_gene': 'GC06P042385', 'score': 0.22}]
chr6 GH06I035341 35341664 35344831 2.59 [{'connected_gene': 'PPARD', 'score': 561.32}, {'connected_gene': 'FANCE', 'score': 31.21}, {'connected_gene': 'TAF11', 'score': 28.91}, {'connected_gene': 'FKBP5', 'score': 18.53}, {'connected_gene': 'RPS10', 'score': 12.57}, {'connected_gene': 'RPL10A', 'score': 12.35}, {'connected_gene': 'TEAD3', 'score': 10.53}, {'connected_gene': 'BRPF3', 'score': 10.5}, {'connected_gene': 'ENSG00000219023', 'score': 10.21}, {'connected_gene': 'MAPK14', 'score': 10.06}, {'connected_gene': 'DEF6', 'score': 8.32}, {'connected_gene': 'UHRF1BP1', 'score': 7.86}, {'connected_gene': 'C6orf106', 'score': 7.28}, {'connected_gene': 'ZNF76', 'score': 1.78}, {'connected_gene': 'GC06P042385', 'score': 0.18}]
chr6 GH06I035309 35309218 35313271 1.29 [{'connected_gene': 'DEF6', 'score': 43.98}, {'connected_gene': 'ZNF76', 'score': 13.41}, {'connected_gene': 'TAF11', 'score': 5.01}, {'connected_gene': 'RPL10A', 'score': 3.43}, {'connected_gene': 'FKBP5', 'score': 1.36}, {'connected_gene': 'PPARD', 'score': 0.29}]
chr6 GH06I035059 35059351 35066068 0.43 [{'connected_gene': 'DEF6', 'score': 7.86}, {'connected_gene': 'UHRF1BP1', 'score': 6.83}, {'connected_gene': 'TCP11', 'score': 6.23}, {'connected_gene': 'RPL10A', 'score': 4.43}, {'connected_gene': 'PIR51275', 'score': 0.44}, {'connected_gene': 'GC06M038607', 'score': 0.37}, {'connected_gene': 'ANKS1A', 'score': 0.09}]
chr6 GH06I035476 35474644 35474717 0.69 [{'connected_gene': 'RPL10A', 'score': 13.63}, {'connected_gene': 'ENSG00000219023', 'score': 11.84}, {'connected_gene': 'TAF11', 'score': 11.67}, {'connected_gene': 'ZNF76', 'score': 10.55}, {'connected_gene': 'MAPK14', 'score': 9.76}, {'connected_gene': 'MIR7111', 'score': 0.77}, {'connected_gene': 'TEAD3', 'score': 0.34}]
chr6 GH06I035474 35474384 35474533 0.76 [{'connected_gene': 'RPL10A', 'score': 13.63}, {'connected_gene': 'ENSG00000219023', 'score': 11.84}, {'connected_gene': 'TAF11', 'score': 11.67}, {'connected_gene': 'ZNF76', 'score': 10.55}, {'connected_gene': 'MAPK14', 'score': 9.76}, {'connected_gene': 'MIR7111', 'score': 0.77}, {'connected_gene': 'TEAD3', 'score': 0.34}]
chr6 GH06I036340 36340244 36341400 1.35 [{'connected_gene': 'RPL10A', 'score': 4.59}, {'connected_gene': 'C6orf222', 'score': 0.77}, {'connected_gene': 'PIR35042', 'score': 0.37}]
chr6 GH06I036343 36343291 36343517 0.33 [{'connected_gene': 'RPL10A', 'score': 4.55}, {'connected_gene': 'C6orf222', 'score': 0.44}, {'connected_gene': 'PIR35042', 'score': 0.39}]
chr6 GH06I035477 35477587 35477857 0.56 [{'connected_gene': 'RPL10A', 'score': 10.38}, {'connected_gene': 'MIR7111', 'score': 0.44}, {'connected_gene': 'TEAD3', 'score': 0.37}]
chr6 GH06I035467 35467446 35472833 2.34 [{'connected_gene': 'RPL10A', 'score': 579.09}, {'connected_gene': 'MIR7111', 'score': 550.77}, {'connected_gene': 'TAF11', 'score': 72.43}, {'connected_gene': 'BRPF3', 'score': 42.68}, {'connected_gene': 'ZNF76', 'score': 40.7}, {'connected_gene': 'ENSG00000272374', 'score': 32.88}, {'connected_gene': 'FANCE', 'score': 18.24}, {'connected_gene': 'PPARD', 'score': 17.05}, {'connected_gene': 'ARMC12', 'score': 11.09}, {'connected_gene': 'ANKS1A', 'score': 10.36}, {'connected_gene': 'KCTD20', 'score': 10.05}, {'connected_gene': 'DEF6', 'score': 5.79}, {'connected_gene': 'UHRF1BP1', 'score': 4.92}]
chr6 GH06I035588 35586323 35586634 0.38 [{'connected_gene': 'RPL10A', 'score': 5.46}, {'connected_gene': 'RPL36P9', 'score': 0.34}, {'connected_gene': 'ENSG00000219023', 'score': 0.29}, {'connected_gene': 'LOC101929309', 'score': 0.26}, {'connected_gene': 'FKBP5', 'score': 0.11}]
chr6 GH06I035042 35042487 35052233 1.45 [{'connected_gene': 'ANKS1A', 'score': 24.83}, {'connected_gene': 'TAF11', 'score': 21.38}, {'connected_gene': 'ENSG00000272374', 'score': 13.88}, {'connected_gene': 'UHRF1BP1', 'score': 8.15}, {'connected_gene': 'DEF6', 'score': 7.86}, {'connected_gene': 'RPL10A', 'score': 4.47}, {'connected_gene': 'TCP11', 'score': 4.44}, {'connected_gene': 'GC06M038607', 'score': 0.77}, {'connected_gene': 'PIR51275', 'score': 0.34}]
chr6 GH06I035723 35723689 35734505 2.64 [{'connected_gene': 'FKBP5', 'score': 552.33}, {'connected_gene': 'TAF11', 'score': 78.9}, {'connected_gene': 'SRSF3', 'score': 50.38}, {'connected_gene': 'ZNF76', 'score': 33.26}, {'connected_gene': 'ENSG00000272374', 'score': 32.19}, {'connected_gene': 'RPL10A', 'score': 21.21}, {'connected_gene': 'STK38', 'score': 20.62}, {'connected_gene': 'ENSG00000219023', 'score': 20.21}, {'connected_gene': 'FANCE', 'score': 17.84}, {'connected_gene': 'PPARD', 'score': 12.85}, {'connected_gene': 'ENSG00000228559', 'score': 11.84}, {'connected_gene': 'ARMC12', 'score': 11.8}, {'connected_gene': 'TEAD3', 'score': 11.57}, {'connected_gene': 'MAPK14', 'score': 11.27}, {'connected_gene': 'ENSG00000212579', 'score': 11.11}, {'connected_gene': 'ENSG00000237719', 'score': 10.43}, {'connected_gene': 'BRPF3', 'score': 10.07}, {'connected_gene': 'ENSG00000232909', 'score': 0.44}, {'connected_gene': 'LOC285847', 'score': 0.44}]
chr6 GH06I035686 35686001 35689633 2.28 [{'connected_gene': 'FKBP5', 'score': 563.1}, {'connected_gene': 'TAF11', 'score': 42.29}, {'connected_gene': 'SRSF3', 'score': 28.86}, {'connected_gene': 'ENSG00000272374', 'score': 26.39}, {'connected_gene': 'MAPK14', 'score': 20.99}, {'connected_gene': 'ZNF76', 'score': 19.66}, {'connected_gene': 'RPL10A', 'score': 13.27}, {'connected_gene': 'ARMC12', 'score': 13.09}, {'connected_gene': 'ENSG00000232909', 'score': 13.09}, {'connected_gene': 'STK38', 'score': 12.59}, {'connected_gene': 'ENSG00000237719', 'score': 12.46}, {'connected_gene': 'ENSG00000219023', 'score': 11.78}, {'connected_gene': 'ENSG00000212579', 'score': 11.75}, {'connected_gene': 'BRPF3', 'score': 11.06}, {'connected_gene': 'SRPK1', 'score': 9.94}, {'connected_gene': 'ANKS1A', 'score': 9.83}, {'connected_gene': 'ENSG00000228559', 'score': 4.18}, {'connected_gene': 'MIR5690', 'score': 0.34}]
chr6 GH06I036439 36439381 36446313 2.64 [{'connected_gene': 'KCTD20', 'score': 580.73}, {'connected_gene': 'PXT1', 'score': 560.74}, {'connected_gene': 'ETV7', 'score': 31.87}, {'connected_gene': 'SRSF3', 'score': 15.05}, {'connected_gene': 'LOC105375037', 'score': 10.62}, {'connected_gene': 'RNF8', 'score': 10.55}, {'connected_gene': 'CDKN1A', 'score': 10.33}, {'connected_gene': 'RPL10A', 'score': 10.26}, {'connected_gene': 'PI16', 'score': 10.16}, {'connected_gene': 'MAPK14', 'score': 4.18}, {'connected_gene': 'BRPF3', 'score': 3.4}, {'connected_gene': 'STK38', 'score': 1.46}]
chr6 GH06I034559 34559797 34561817 1.43 [{'connected_gene': 'LEMD2', 'score': 28.44}, {'connected_gene': 'RPL10A', 'score': 24.07}, {'connected_gene': 'RPS10', 'score': 22.68}, {'connected_gene': 'TAF11', 'score': 20.64}, {'connected_gene': 'ENSG00000219023', 'score': 20.11}, {'connected_gene': 'ITPR3', 'score': 18.01}, {'connected_gene': 'FANCE', 'score': 14.51}, {'connected_gene': 'ZNF76', 'score': 10.49}, {'connected_gene': 'UHRF1BP1', 'score': 4.85}, {'connected_gene': 'SPDEF', 'score': 0.77}, {'connected_gene': 'GC06M038603', 'score': 0.37}]
chr6 GH06I035451 35451361 35455158 2.24 [{'connected_gene': 'FANCE', 'score': 557.35}, {'connected_gene': 'RPL10A', 'score': 21.1}, {'connected_gene': 'UHRF1BP1', 'score': 4.19}]
chr6 GH06I035461 35461364 35461513 0.63 [{'connected_gene': 'FANCE', 'score': 6.51}, {'connected_gene': 'RPL10A', 'score': 0.44}]
chr6 GH06I036116 36116620 36124573 1.74 [{'connected_gene': 'SLC26A8', 'score': 48.37}, {'connected_gene': 'MAPK14', 'score': 21.85}, {'connected_gene': 'SRSF3', 'score': 19.16}, {'connected_gene': 'PXT1', 'score': 18.1}, {'connected_gene': 'SRPK1', 'score': 17.36}, {'connected_gene': 'BRPF3', 'score': 13.7}, {'connected_gene': 'RPL10A', 'score': 13.22}, {'connected_gene': 'ENSG00000219023', 'score': 11.69}, {'connected_gene': 'MAPK13', 'score': 11.51}, {'connected_gene': 'LOC102723648', 'score': 11.36}, {'connected_gene': 'ARMC12', 'score': 11.08}, {'connected_gene': 'ZNF76', 'score': 10.5}, {'connected_gene': 'STK38', 'score': 4.14}, {'connected_gene': 'TCP11', 'score': 3.99}, {'connected_gene': 'KCTD20', 'score': 2.49}, {'connected_gene': 'PIR34765', 'score': 0.39}]
chr6 GH06I034694 34694552 34697960 2.29 [{'connected_gene': 'GC06P042412', 'score': 550.77}, {'connected_gene': 'C6orf106', 'score': 550.77}, {'connected_gene': 'LOC101929243', 'score': 550.77}, {'connected_gene': 'TAF11', 'score': 61.76}, {'connected_gene': 'LEMD2', 'score': 50.19}, {'connected_gene': 'UHRF1BP1', 'score': 40.18}, {'connected_gene': 'RPL10A', 'score': 14.59}, {'connected_gene': 'ZNF76', 'score': 13.6}, {'connected_gene': 'RPS10', 'score': 13.3}, {'connected_gene': 'ENSG00000219023', 'score': 12.7}, {'connected_gene': 'SNRPC', 'score': 11.32}, {'connected_gene': 'RPL35P2', 'score': 10.54}, {'connected_gene': 'FANCE', 'score': 10.07}, {'connected_gene': 'ENSG00000272374', 'score': 10.05}, {'connected_gene': 'LOC105375028', 'score': 0.44}]

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