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
ENST00000470487 [[167726464, 167728206], [167728530, 167728611], [167742313, 167742382], [167742715, 167742883], [167745515, 167745625], [167747010, 167747090], [167747567, 167747824], [167750307, 167750640], [167754623, 167754782], [167758573, 167758657], [167759179, 167759262], [167761166, 167761317], [167762615, 167762669], [167764737, 167764787], [167766078, 167766153], [167812886, 167813763]] [[167728056, 167728206], [167728530, 167728611], [167742313, 167742382], [167742715, 167742883], [167745515, 167745625], [167747010, 167747090], [167747567, 167747824], [167750307, 167750640], [167754623, 167754782], [167758573, 167758657], [167759179, 167759262], [167761166, 167761317], [167762615, 167762669], [167764737, 167764787], [167766078, 167766153], [167812886, 167813073]]
ENST00000309027 [[167728022, 167728206], [167728530, 167728611], [167742313, 167742382], [167742715, 167742883], [167745515, 167745625], [167747010, 167747090], [167747567, 167747824], [167750307, 167750640], [167754623, 167754782], [167759179, 167759262], [167761166, 167761317], [167762615, 167762669], [167764737, 167764787], [167766078, 167766153], [167812886, 167813132]] [[167728056, 167728206], [167728530, 167728611], [167742313, 167742382], [167742715, 167742883], [167745515, 167745625], [167747010, 167747090], [167747567, 167747824], [167750307, 167750640], [167754623, 167754782], [167759179, 167759262], [167761166, 167761317], [167762615, 167762669], [167764737, 167764787], [167766078, 167766153], [167812886, 167813073]]
ENST00000479415 [[167758905, 167759262], [167761166, 167761317], [167762615, 167762669]] None
NM_014498 [[167726459, 167728206], [167728530, 167728611], [167742313, 167742382], [167742715, 167742883], [167745515, 167745625], [167747010, 167747090], [167747567, 167747824], [167750307, 167750640], [167754623, 167754782], [167758573, 167758657], [167759179, 167759262], [167761166, 167761317], [167762615, 167762669], [167764737, 167764787], [167766078, 167766153], [167812886, 167813713]] [[167728056, 167728206], [167728530, 167728611], [167742313, 167742382], [167742715, 167742883], [167745515, 167745625], [167747010, 167747090], [167747567, 167747824], [167750307, 167750640], [167754623, 167754782], [167758573, 167758657], [167759179, 167759262], [167761166, 167761317], [167762615, 167762669], [167764737, 167764787], [167766078, 167766153], [167812886, 167813073]]
NM_001308155 [[167726459, 167728206], [167728530, 167728611], [167742313, 167742382], [167742715, 167742883], [167745515, 167745625], [167747010, 167747090], [167747567, 167747824], [167750307, 167750640], [167754623, 167754782], [167759179, 167759262], [167761166, 167761317], [167762615, 167762669], [167764737, 167764787], [167766078, 167766153], [167812886, 167813713]] [[167728056, 167728206], [167728530, 167728611], [167742313, 167742382], [167742715, 167742883], [167745515, 167745625], [167747010, 167747090], [167747567, 167747824], [167750307, 167750640], [167754623, 167754782], [167759179, 167759262], [167761166, 167761317], [167762615, 167762669], [167764737, 167764787], [167766078, 167766153], [167812886, 167813073]]
Promoter
Chrom Start End Description
chr3 167762611 167762616 CAGE_peak_22_at_GOLIM4_5end
chr3 167813024 167813035 CAGE_peak_9_at_GOLIM4_5end
chr3 167813172 167813183 CAGE_peak_10_at_GOLIM4_5end
chr3 167813291 167813303 CAGE_peak_15_at_GOLIM4_5end
chr3 167813311 167813325 CAGE_peak_7_at_GOLIM4_5end
chr3 167813363 167813423 CAGE_peak_2_at_GOLIM4_5end
chr3 167813442 167813461 CAGE_peak_6_at_GOLIM4_5end
chr3 167813484 167813519 CAGE_peak_3_at_GOLIM4_5end
chr3 167813586 167813595 CAGE_peak_18_at_GOLIM4_5end
chr3 167813622 167813649 CAGE_peak_4_at_GOLIM4_5end
chr3 167813653 167813671 CAGE_peak_5_at_GOLIM4_5end
chr3 167813672 167813751 CAGE_peak_1_at_GOLIM4_5end
chr3 167813916 167813958 CAGE_peak_11_at_GOLIM4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I168074 168074000 168074400 0.66 [{'connected_gene': 'LRRC77P', 'score': 5.54}, {'connected_gene': 'GOLIM4', 'score': 0.34}, {'connected_gene': 'HMGN2P26', 'score': 0.13}]
chr3 GH03I168054 168054867 168057998 0.64 [{'connected_gene': 'LRRC77P', 'score': 5.01}, {'connected_gene': 'GOLIM4', 'score': 0.28}, {'connected_gene': 'HMGN2P26', 'score': 0.15}]
chr3 GH03I168034 168034137 168034438 0.99 [{'connected_gene': 'GOLIM4', 'score': 0.21}, {'connected_gene': 'HMGN2P26', 'score': 0.18}]
chr3 GH03I168051 168051613 168051814 0.72 [{'connected_gene': 'GOLIM4', 'score': 13.01}, {'connected_gene': 'HMGN2P26', 'score': 0.16}]
chr3 GH03I168070 168070718 168072769 0.95 [{'connected_gene': 'GOLIM4', 'score': 0.34}, {'connected_gene': 'HMGN2P26', 'score': 0.14}]
chr3 GH03I168024 168024015 168025702 0.76 [{'connected_gene': 'GOLIM4', 'score': 6.5}, {'connected_gene': 'HMGN2P26', 'score': 0.2}]
chr3 GH03I168088 168088126 168089014 0.96 [{'connected_gene': 'GOLIM4', 'score': 0.44}, {'connected_gene': 'HMGN2P26', 'score': 0.13}]
chr3 GH03I168047 168047313 168047462 0.81 [{'connected_gene': 'GOLIM4', 'score': 12.99}, {'connected_gene': 'HMGN2P26', 'score': 0.17}]
chr3 GH03I168049 168049001 168049601 0.6 [{'connected_gene': 'GOLIM4', 'score': 12.99}, {'connected_gene': 'HMGN2P26', 'score': 0.16}]
chr3 GH03I168090 168090908 168097546 2.11 [{'connected_gene': 'GOLIM4', 'score': 550.77}, {'connected_gene': 'HMGN1P8', 'score': 11.31}, {'connected_gene': 'SERPINI2', 'score': 4.08}, {'connected_gene': 'HMGN2P26', 'score': 0.12}]
chr3 GH03I168156 168156539 168157332 0.94 [{'connected_gene': 'GOLIM4', 'score': 0.21}, {'connected_gene': 'GC03M168239', 'score': 0.18}, {'connected_gene': 'PIR49236', 'score': 0.18}]
chr3 GH03I168117 168116113 168116884 1.01 [{'connected_gene': 'GOLIM4', 'score': 0.34}, {'connected_gene': 'GC03M168239', 'score': 0.13}, {'connected_gene': 'PIR49236', 'score': 0.13}]
chr3 GH03I168165 168165455 168166362 0.96 [{'connected_gene': 'GOLIM4', 'score': 0.2}, {'connected_gene': 'GC03M168239', 'score': 0.19}, {'connected_gene': 'PIR49236', 'score': 0.19}]
chr3 GH03I168157 168157393 168157542 0.97 [{'connected_gene': 'GOLIM4', 'score': 0.21}, {'connected_gene': 'GC03M168239', 'score': 0.18}, {'connected_gene': 'PIR49236', 'score': 0.18}]
chr3 GH03I168121 168121183 168121866 0.43 [{'connected_gene': 'GOLIM4', 'score': 0.31}, {'connected_gene': 'GC03M168239', 'score': 0.13}, {'connected_gene': 'PIR49236', 'score': 0.13}]
chr3 GH03I168116 168116973 168118257 1.02 [{'connected_gene': 'GOLIM4', 'score': 0.34}, {'connected_gene': 'GC03M168239', 'score': 0.13}, {'connected_gene': 'PIR49236', 'score': 0.13}]
chr3 GH03I167976 167976304 167979314 0.75 [{'connected_gene': 'HMGN2P26', 'score': 0.37}, {'connected_gene': 'GOLIM4', 'score': 0.13}]
chr3 GH03I167991 167991550 167993306 0.2 [{'connected_gene': 'HMGN2P26', 'score': 0.29}, {'connected_gene': 'GOLIM4', 'score': 0.15}]
chr3 GH03I168002 168002912 168003401 0.97 [{'connected_gene': 'HMGN2P26', 'score': 0.26}, {'connected_gene': 'GOLIM4', 'score': 0.16}]

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