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
ENST00000322122 [[31225341, 31225618], [31226052, 31226449], [31230415, 31230511], [31230609, 31230840], [31232216, 31232239], [31234147, 31234266], [31235501, 31236510]] [[31226059, 31226449], [31230415, 31230511], [31230609, 31230840], [31232216, 31232239], [31234147, 31234266], [31235501, 31236076]]
NM_001008274 [[31225341, 31225618], [31226052, 31226449], [31230415, 31230511], [31230609, 31230840], [31232216, 31232239], [31234147, 31234266], [31235501, 31236510]] [[31226059, 31226449], [31230415, 31230511], [31230609, 31230840], [31232216, 31232239], [31234147, 31234266], [31235501, 31236076]]
Promoter
Chrom Start End Description
chr16 31225337 31225344 CAGE_peak_6_at_TRIM72_5end
chr16 31225409 31225428 CAGE_peak_3_at_TRIM72_5end
chr16 31225432 31225453 CAGE_peak_2_at_TRIM72_5end
chr16 31225461 31225498 CAGE_peak_1_at_TRIM72_5end
chr16 31225515 31225535 CAGE_peak_4_at_TRIM72_5end
chr16 31225541 31225553 CAGE_peak_5_at_TRIM72_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I031213 31213140 31216382 1.93 [{'connected_gene': 'TRIM72', 'score': 550.77}, {'connected_gene': 'C16orf58', 'score': 15.7}, {'connected_gene': 'ZNF785', 'score': 14.81}, {'connected_gene': 'FUS', 'score': 13.92}, {'connected_gene': 'MIR762HG', 'score': 13.01}, {'connected_gene': 'ARMC5', 'score': 12.25}, {'connected_gene': 'ZNF720', 'score': 12.15}, {'connected_gene': 'NPIPB13', 'score': 11.84}, {'connected_gene': 'SETD1A', 'score': 11.31}, {'connected_gene': 'ZNF747', 'score': 10.69}, {'connected_gene': 'LOC730183', 'score': 10.49}, {'connected_gene': 'ENSG00000261474', 'score': 10.09}, {'connected_gene': 'PYCARD', 'score': 10.06}, {'connected_gene': 'ZNF764', 'score': 6.31}, {'connected_gene': 'PYDC1', 'score': 5.04}]
chr16 GH16I031212 31212159 31212226 0.44 [{'connected_gene': 'TRIM72', 'score': 550.77}, {'connected_gene': 'ZNF629', 'score': 1.26}, {'connected_gene': 'PYCARD', 'score': 0.44}]
chr16 GH16I031351 31351201 31358414 2.16 [{'connected_gene': 'ITGAX', 'score': 585.66}, {'connected_gene': 'STX4', 'score': 19.26}, {'connected_gene': 'PYDC1', 'score': 10.34}, {'connected_gene': 'KAT8', 'score': 7.29}, {'connected_gene': 'ITGAM', 'score': 6.47}, {'connected_gene': 'ZNF646', 'score': 5.25}, {'connected_gene': 'ARMC5', 'score': 5.07}, {'connected_gene': 'ZNF764', 'score': 5.06}, {'connected_gene': 'HSD3B7', 'score': 4.92}, {'connected_gene': 'LOC647086', 'score': 4.72}, {'connected_gene': 'ENSG00000260911', 'score': 4.23}, {'connected_gene': 'TRIM72', 'score': 4.03}, {'connected_gene': 'FUS', 'score': 3.32}, {'connected_gene': 'ZNF668', 'score': 2.8}, {'connected_gene': 'PYCARD', 'score': 1.2}]
chr16 GH16I031333 31333800 31333949 0.9 [{'connected_gene': 'ITGAX', 'score': 12.19}, {'connected_gene': 'TRIM72', 'score': 11.79}, {'connected_gene': 'PYCARD', 'score': 11.78}, {'connected_gene': 'PRSS8', 'score': 11.05}, {'connected_gene': 'ITGAM', 'score': 0.19}]
chr16 GH16I031229 31229240 31230559 0.83 [{'connected_gene': 'PYCARD', 'score': 6.48}, {'connected_gene': 'GC16P031253', 'score': 0.77}, {'connected_gene': 'GC16P031244', 'score': 0.39}, {'connected_gene': 'TRIM72', 'score': 0.37}]
chr16 GH16I031206 31206960 31207109 0.78 [{'connected_gene': 'PYCARD', 'score': 0.77}, {'connected_gene': 'TRIM72', 'score': 0.44}]
chr16 GH16I031207 31207215 31207422 0.54 [{'connected_gene': 'PYCARD', 'score': 0.77}, {'connected_gene': 'TRIM72', 'score': 0.44}]
chr16 GH16I031176 31176738 31177800 0.72 [{'connected_gene': 'PYCARD', 'score': 22.48}, {'connected_gene': 'PRSS36', 'score': 12.71}, {'connected_gene': 'PRSS8', 'score': 12.11}, {'connected_gene': 'TRIM72', 'score': 11.0}, {'connected_gene': 'HSD3B7', 'score': 10.98}, {'connected_gene': 'SETD1A', 'score': 10.97}, {'connected_gene': 'ZNF646', 'score': 10.64}, {'connected_gene': 'ZNF668', 'score': 10.64}, {'connected_gene': 'FUS', 'score': 0.77}, {'connected_gene': 'NDUFA3P6', 'score': 0.77}]
chr16 GH16I031247 31247920 31249021 0.43 [{'connected_gene': 'PYDC1', 'score': 33.23}, {'connected_gene': 'TRIM72', 'score': 12.51}, {'connected_gene': 'PYCARD', 'score': 12.46}, {'connected_gene': 'FUS', 'score': 11.27}, {'connected_gene': 'PRSS36', 'score': 10.91}, {'connected_gene': 'STX4', 'score': 10.35}, {'connected_gene': 'STX1B', 'score': 10.29}, {'connected_gene': 'LOC730183', 'score': 4.29}, {'connected_gene': 'GC16P031244', 'score': 0.44}, {'connected_gene': 'ITGAM', 'score': 0.39}]
chr16 GH16I031245 31245160 31246586 0.43 [{'connected_gene': 'PYDC1', 'score': 16.39}, {'connected_gene': 'PYCARD', 'score': 12.32}, {'connected_gene': 'TRIM72', 'score': 12.25}, {'connected_gene': 'FUS', 'score': 10.65}, {'connected_gene': 'PRSS8', 'score': 10.6}, {'connected_gene': 'GC16P031244', 'score': 0.77}, {'connected_gene': 'ITGAM', 'score': 0.39}]
chr16 GH16I031252 31252997 31254799 1.45 [{'connected_gene': 'PYDC1', 'score': 31.12}, {'connected_gene': 'PYCARD', 'score': 17.89}, {'connected_gene': 'TRIM72', 'score': 11.94}, {'connected_gene': 'PRSS36', 'score': 10.88}, {'connected_gene': 'ITGAM', 'score': 7.69}, {'connected_gene': 'ITGAX', 'score': 6.8}, {'connected_gene': 'ZNF646', 'score': 6.32}, {'connected_gene': 'ZNF668', 'score': 4.94}, {'connected_gene': 'STX4', 'score': 3.19}, {'connected_gene': 'KAT8', 'score': 2.97}, {'connected_gene': 'GC16P031244', 'score': 0.39}]
chr16 GH16I031178 31178498 31183169 2.14 [{'connected_gene': 'FUS', 'score': 587.91}, {'connected_gene': 'SRCAP', 'score': 70.92}, {'connected_gene': 'SETD1A', 'score': 66.98}, {'connected_gene': 'SMG1P5', 'score': 54.83}, {'connected_gene': 'ZNF764', 'score': 51.91}, {'connected_gene': 'ENSG00000260267', 'score': 47.4}, {'connected_gene': 'PRR14', 'score': 47.37}, {'connected_gene': 'RNF40', 'score': 45.46}, {'connected_gene': 'ENSG00000260304', 'score': 37.47}, {'connected_gene': 'FBRS', 'score': 36.32}, {'connected_gene': 'ZNF646', 'score': 33.91}, {'connected_gene': 'PYCARD', 'score': 32.36}, {'connected_gene': 'C16orf58', 'score': 31.34}, {'connected_gene': 'ZNF668', 'score': 29.02}, {'connected_gene': 'ORAI3', 'score': 26.43}, {'connected_gene': 'SLX1A', 'score': 25.19}, {'connected_gene': 'ENSG00000235560', 'score': 22.43}, {'connected_gene': 'STX4', 'score': 21.82}, {'connected_gene': 'PHKG2', 'score': 21.61}, {'connected_gene': 'BCL7C', 'score': 18.88}, {'connected_gene': 'ENSG00000260625', 'score': 18.58}, {'connected_gene': 'ZNF785', 'score': 16.6}, {'connected_gene': 'PYDC1', 'score': 16.36}, {'connected_gene': 'ZNF771', 'score': 13.07}, {'connected_gene': 'PRSS36', 'score': 12.69}, {'connected_gene': 'NPIPB13', 'score': 12.51}, {'connected_gene': 'PRSS8', 'score': 12.1}, {'connected_gene': 'LOC730183', 'score': 11.26}, {'connected_gene': 'ZNF688', 'score': 11.21}, {'connected_gene': 'ZNF689', 'score': 11.14}, {'connected_gene': 'TRIM72', 'score': 11.02}, {'connected_gene': 'HSD3B7', 'score': 10.98}, {'connected_gene': 'ZNF768', 'score': 10.76}, {'connected_gene': 'FBXL19', 'score': 10.37}, {'connected_gene': 'ZNF720', 'score': 10.24}, {'connected_gene': 'MIR762HG', 'score': 10.19}, {'connected_gene': 'KAT8', 'score': 10.14}, {'connected_gene': 'ENSG00000262766', 'score': 9.99}]
chr16 GH16I031228 31228820 31229109 0.49 [{'connected_gene': 'GC16P031253', 'score': 0.77}, {'connected_gene': 'GC16P031244', 'score': 0.39}, {'connected_gene': 'TRIM72', 'score': 0.39}]
chr16 GH16I031226 31226643 31227616 0.31 [{'connected_gene': 'GC16P031253', 'score': 550.77}, {'connected_gene': 'PYCARD', 'score': 6.52}, {'connected_gene': 'TRIM72', 'score': 0.39}, {'connected_gene': 'GC16P031244', 'score': 0.37}]
chr16 GH16I031243 31243832 31244800 0.97 [{'connected_gene': 'GC16P031244', 'score': 550.77}, {'connected_gene': 'PYDC1', 'score': 29.58}, {'connected_gene': 'PYCARD', 'score': 12.32}, {'connected_gene': 'TRIM72', 'score': 12.25}, {'connected_gene': 'FUS', 'score': 10.65}, {'connected_gene': 'PRSS8', 'score': 10.61}, {'connected_gene': 'ZNF764', 'score': 7.48}, {'connected_gene': 'ITGAM', 'score': 0.37}]