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
ENST00000282120 [[85545146, 85549864], [85552037, 85552121], [85553630, 85553927], [85554101, 85554349], [85554643, 85554808], [85555039, 85555374]] [[85549858, 85549864], [85552037, 85552121], [85553630, 85553927], [85554101, 85554349], [85554643, 85554808], [85555039, 85555085]]
ENST00000377386 [[85545146, 85549864], [85552037, 85552121], [85553630, 85554808], [85555039, 85555548]] [[85549858, 85549864], [85552037, 85552121], [85553630, 85554808], [85555039, 85555085]]
ENST00000398263 [[85545149, 85549864], [85552037, 85552121], [85553630, 85553927], [85554101, 85554808], [85555039, 85555374]] [[85549858, 85549864], [85552037, 85552121], [85553630, 85553927], [85554101, 85554808], [85555039, 85555085]]
ENST00000409232 [[85549016, 85549881], [85552037, 85552121], [85553630, 85554808], [85555039, 85555147]] [[85549827, 85549881], [85552037, 85552121], [85553630, 85554808], [85555039, 85555085]]
ENST00000409015 [[85549016, 85549922], [85552037, 85552121], [85553630, 85554808], [85555039, 85555147]] [[85549865, 85549922], [85552037, 85552121], [85553630, 85554808], [85555039, 85555085]]
ENST00000444342 [[85551507, 85552121], [85553630, 85554808], [85555039, 85555108]] [[85552001, 85552121], [85553630, 85554808], [85555039, 85555085]]
NM_001206840 [[85545140, 85549922], [85552037, 85552121], [85553630, 85554808], [85555039, 85555419]] [[85549787, 85549922], [85552037, 85552121], [85553630, 85554808], [85555039, 85555085]]
NM_001206841 [[85545140, 85549881], [85552037, 85552121], [85553630, 85554808], [85555039, 85555419]] [[85549827, 85549881], [85552037, 85552121], [85553630, 85554808], [85555039, 85555085]]
NM_006464 [[85545140, 85549864], [85552037, 85552121], [85553630, 85554808], [85555039, 85555419]] [[85549858, 85549864], [85552037, 85552121], [85553630, 85554808], [85555039, 85555085]]
NM_001206844 [[85545140, 85549864], [85552037, 85552121], [85553630, 85553927], [85554101, 85554808], [85555039, 85555419]] [[85549858, 85549864], [85552037, 85552121], [85553630, 85553927], [85554101, 85554808], [85555039, 85555085]]
Promoter
Chrom Start End Description
chr2 85546361 85546379 CAGE_peak_10_at_TGOLN2_5end
chr2 85555061 85555081 CAGE_peak_2_at_TGOLN2_5end
chr2 85555086 85555119 CAGE_peak_1_at_TGOLN2_5end
chr2 85555355 85555383 CAGE_peak_4_at_TGOLN2_5end
chr2 85555385 85555424 CAGE_peak_3_at_TGOLN2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I085306 85306475 85308438 1.35 [{'connected_gene': 'ELMOD3', 'score': 22.7}, {'connected_gene': 'SNORD94', 'score': 15.87}, {'connected_gene': 'TGOLN2', 'score': 14.24}, {'connected_gene': 'C2orf68', 'score': 13.55}, {'connected_gene': 'LOC100996506', 'score': 11.22}, {'connected_gene': 'USP39', 'score': 10.94}, {'connected_gene': 'RETSAT', 'score': 10.82}, {'connected_gene': 'CAPG', 'score': 10.42}, {'connected_gene': 'TCF7L1', 'score': 4.67}, {'connected_gene': 'GC02M085296', 'score': 0.39}]
chr2 GH02I085342 85342041 85343636 0.2 [{'connected_gene': 'PEBP1P2', 'score': 550.77}, {'connected_gene': 'CAPG', 'score': 20.08}, {'connected_gene': 'RETSAT', 'score': 17.35}, {'connected_gene': 'TGOLN2', 'score': 7.5}, {'connected_gene': 'LOC100996506', 'score': 5.69}, {'connected_gene': 'ELMOD3', 'score': 0.39}]
chr2 GH02I085341 85341269 85341980 0.38 [{'connected_gene': 'PEBP1P2', 'score': 550.77}, {'connected_gene': 'CAPG', 'score': 32.33}, {'connected_gene': 'SH2D6', 'score': 10.81}, {'connected_gene': 'TGOLN2', 'score': 9.83}, {'connected_gene': 'ENSG00000239143', 'score': 0.44}, {'connected_gene': 'GC02M085333', 'score': 0.44}, {'connected_gene': 'RETSAT', 'score': 0.39}]
chr2 GH02I085404 85404401 85412400 1.97 [{'connected_gene': 'CAPG', 'score': 576.98}, {'connected_gene': 'RETSAT', 'score': 12.18}, {'connected_gene': 'TGOLN2', 'score': 1.49}, {'connected_gene': 'KCMF1', 'score': 1.2}, {'connected_gene': 'LOC105374841', 'score': 0.44}, {'connected_gene': 'ENSG00000273196', 'score': 0.34}, {'connected_gene': 'GC02P085363', 'score': 0.25}]
chr2 GH02I085455 85455248 85459897 1.05 [{'connected_gene': 'CAPG', 'score': 20.18}, {'connected_gene': 'SH2D6', 'score': 11.53}, {'connected_gene': 'MAT2A', 'score': 11.08}, {'connected_gene': 'ELMOD3', 'score': 10.76}, {'connected_gene': 'RETSAT', 'score': 10.76}, {'connected_gene': 'USP39', 'score': 6.37}, {'connected_gene': 'TGOLN2', 'score': 5.14}, {'connected_gene': 'VAMP5', 'score': 4.45}, {'connected_gene': 'ENSG00000199936', 'score': 0.77}, {'connected_gene': 'GC02M085461', 'score': 0.77}, {'connected_gene': 'RN7SL251P', 'score': 0.37}]
chr2 GH02I085412 85412587 85415392 2.49 [{'connected_gene': 'CAPG', 'score': 576.34}, {'connected_gene': 'LOC105374841', 'score': 550.77}, {'connected_gene': 'RETSAT', 'score': 11.74}, {'connected_gene': 'TGOLN2', 'score': 1.48}, {'connected_gene': 'VAMP8', 'score': 1.31}, {'connected_gene': 'ENSG00000273196', 'score': 0.31}, {'connected_gene': 'GC02P085363', 'score': 0.23}]
chr2 GH02I085273 85273912 85275210 1.18 [{'connected_gene': 'PTCD3', 'score': 12.04}, {'connected_gene': 'TCF7L1', 'score': 11.69}, {'connected_gene': 'TGOLN2', 'score': 4.47}, {'connected_gene': 'ENSG00000230299', 'score': 0.39}, {'connected_gene': 'GC02M085296', 'score': 0.37}]
chr2 GH02I085316 85316457 85317752 0.2 [{'connected_gene': 'RETSAT', 'score': 17.82}, {'connected_gene': 'ELMOD3', 'score': 11.09}, {'connected_gene': 'TGOLN2', 'score': 6.48}, {'connected_gene': 'PIR54061', 'score': 0.77}, {'connected_gene': 'LOC100996506', 'score': 0.77}]
chr2 GH02I085318 85318269 85319437 0.58 [{'connected_gene': 'RETSAT', 'score': 20.93}, {'connected_gene': 'TGOLN2', 'score': 19.99}, {'connected_gene': 'LOC100996506', 'score': 13.98}, {'connected_gene': 'ELMOD3', 'score': 11.3}, {'connected_gene': 'CAPG', 'score': 5.44}, {'connected_gene': 'PIR54061', 'score': 0.77}]
chr2 GH02I085548 85548476 85552506 1.28 [{'connected_gene': 'USP39', 'score': 19.56}, {'connected_gene': 'GGCX', 'score': 17.33}, {'connected_gene': 'VAMP8', 'score': 15.85}, {'connected_gene': 'SH2D6', 'score': 12.57}, {'connected_gene': 'CAPG', 'score': 12.57}, {'connected_gene': 'TGOLN2', 'score': 11.06}, {'connected_gene': 'TMEM150A', 'score': 11.0}, {'connected_gene': 'RNU7-64P', 'score': 10.85}, {'connected_gene': 'RN7SL251P', 'score': 10.85}, {'connected_gene': 'ELMOD3', 'score': 10.41}, {'connected_gene': 'RETSAT', 'score': 10.41}, {'connected_gene': 'TMSB10', 'score': 4.67}, {'connected_gene': 'GC02P085546', 'score': 0.77}]
chr2 GH02I085444 85444391 85447900 1.55 [{'connected_gene': 'TGOLN2', 'score': 10.0}, {'connected_gene': 'CAPG', 'score': 6.89}, {'connected_gene': 'SH2D6', 'score': 4.47}, {'connected_gene': 'RN7SL251P', 'score': 0.77}, {'connected_gene': 'ENSG00000199936', 'score': 0.39}, {'connected_gene': 'GC02M085461', 'score': 0.39}, {'connected_gene': 'GC02P085363', 'score': 0.18}]
chr2 GH02I085448 85448166 85451268 0.46 [{'connected_gene': 'TGOLN2', 'score': 9.13}, {'connected_gene': 'CAPG', 'score': 6.97}, {'connected_gene': 'RN7SL251P', 'score': 0.44}, {'connected_gene': 'ENSG00000199936', 'score': 0.39}, {'connected_gene': 'GC02M085461', 'score': 0.39}, {'connected_gene': 'GC02P085363', 'score': 0.17}]
chr2 GH02I085308 85308543 85311156 1.1 [{'connected_gene': 'TGOLN2', 'score': 20.87}, {'connected_gene': 'RETSAT', 'score': 15.15}, {'connected_gene': 'ELMOD3', 'score': 10.83}, {'connected_gene': 'CAPG', 'score': 5.48}, {'connected_gene': 'LOC100996506', 'score': 0.77}, {'connected_gene': 'GC02M085296', 'score': 0.37}, {'connected_gene': 'TCF7L1', 'score': 0.1}]
chr2 GH02I085323 85323529 85329089 2.32 [{'connected_gene': 'TGOLN2', 'score': 570.33}, {'connected_gene': 'RETSAT', 'score': 31.6}, {'connected_gene': 'ELMOD3', 'score': 21.94}, {'connected_gene': 'LOC100996506', 'score': 18.73}, {'connected_gene': 'SNORD94', 'score': 18.17}, {'connected_gene': 'CAPG', 'score': 16.28}, {'connected_gene': 'USP39', 'score': 13.99}, {'connected_gene': 'C2orf68', 'score': 13.31}, {'connected_gene': 'SH2D6', 'score': 10.95}, {'connected_gene': 'VAMP8', 'score': 10.09}, {'connected_gene': 'TCF7L1', 'score': 4.65}, {'connected_gene': 'PIR54061', 'score': 0.77}]
chr2 GH02I085329 85329218 85329265 1.08 [{'connected_gene': 'TGOLN2', 'score': 550.77}, {'connected_gene': 'SH2D6', 'score': 10.96}, {'connected_gene': 'CAPG', 'score': 10.96}, {'connected_gene': 'ENSG00000239143', 'score': 0.77}, {'connected_gene': 'GC02M085333', 'score': 0.77}]
chr2 GH02I085243 85243778 85243927 0.79 [{'connected_gene': 'LOC105374839', 'score': 550.77}, {'connected_gene': 'RNU6-674P', 'score': 11.08}, {'connected_gene': 'TCF7L1', 'score': 10.94}, {'connected_gene': 'TGOLN2', 'score': 4.98}, {'connected_gene': 'ENSG00000230299', 'score': 0.37}]
chr2 GH02I085213 85213478 85217696 1.13 [{'connected_gene': 'LOC102724579', 'score': 550.77}, {'connected_gene': 'USP39', 'score': 4.62}, {'connected_gene': 'TGOLN2', 'score': 4.62}, {'connected_gene': 'PIR39171', 'score': 0.39}, {'connected_gene': 'TCF7L1', 'score': 0.18}]
chr2 GH02I085311 85311740 85315006 0.8 [{'connected_gene': 'LOC100996506', 'score': 550.77}, {'connected_gene': 'TGOLN2', 'score': 20.75}, {'connected_gene': 'ELMOD3', 'score': 11.07}, {'connected_gene': 'RETSAT', 'score': 11.07}, {'connected_gene': 'GC02M085296', 'score': 0.34}]
chr2 GH02I085432 85432571 85440250 1.99 [{'connected_gene': 'GC02P085438', 'score': 550.77}, {'connected_gene': 'ENSG00000207207', 'score': 550.77}, {'connected_gene': 'SH2D6', 'score': 15.09}, {'connected_gene': 'MAT2A', 'score': 12.01}, {'connected_gene': 'CAPG', 'score': 11.3}, {'connected_gene': 'TGOLN2', 'score': 11.08}, {'connected_gene': 'KCMF1', 'score': 2.53}, {'connected_gene': 'RNU7-64P', 'score': 0.44}, {'connected_gene': 'GC02P085363', 'score': 0.19}]
chr2 GH02I085294 85294350 85295292 0.46 [{'connected_gene': 'GC02M085296', 'score': 550.77}, {'connected_gene': 'TGOLN2', 'score': 8.87}, {'connected_gene': 'CAPG', 'score': 6.12}, {'connected_gene': 'RETSAT', 'score': 5.73}, {'connected_gene': 'LOC100996506', 'score': 0.37}, {'connected_gene': 'TCF7L1', 'score': 0.1}]