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
NM_033315 [[34058678, 34058897], [34062056, 34062419], [34067427, 34067552], [34068053, 34070540]] [[34062203, 34062419], [34067427, 34067552], [34068053, 34068324]]
Promoter
Chrom Start End Description
chr17 34058639 34058724 CAGE_peak_1_at_RASL10B_5end
chr17 34058727 34058736 CAGE_peak_2_at_RASL10B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I035731 35731329 35732468 1.87 [{'connected_gene': 'RASL10B', 'score': 550.77}, {'connected_gene': 'GC17P035735', 'score': 550.77}, {'connected_gene': 'PIR33765', 'score': 550.77}, {'connected_gene': 'GC17P035734', 'score': 550.77}, {'connected_gene': 'TAF15', 'score': 0.37}]
chr17 GH17I035777 35777260 35779305 0.8 [{'connected_gene': 'TAF15', 'score': 11.51}, {'connected_gene': 'RASL10B', 'score': 10.81}, {'connected_gene': 'GC17P035762', 'score': 0.37}, {'connected_gene': 'MMP28', 'score': 0.37}]
chr17 GH17I035772 35772943 35774601 0.69 [{'connected_gene': 'MMP28', 'score': 12.44}, {'connected_gene': 'GAS2L2', 'score': 11.7}, {'connected_gene': 'TAF15', 'score': 11.25}, {'connected_gene': 'RASL10B', 'score': 10.2}, {'connected_gene': 'GC17P035762', 'score': 0.39}]
chr17 GH17I035725 35725265 35727707 1 [{'connected_gene': 'AP2B1', 'score': 18.16}, {'connected_gene': 'ZNF830', 'score': 13.68}, {'connected_gene': 'C17orf50', 'score': 11.32}, {'connected_gene': 'MMP28', 'score': 10.85}, {'connected_gene': 'LIG3', 'score': 9.84}, {'connected_gene': 'GAS2L2', 'score': 5.63}, {'connected_gene': 'RASL10B', 'score': 0.44}, {'connected_gene': 'RPL17P42', 'score': 0.44}, {'connected_gene': 'TAF15', 'score': 0.39}]
chr17 GH17I035586 35586512 35591945 2.33 [{'connected_gene': 'AP2B1', 'score': 577.97}, {'connected_gene': 'PEX12', 'score': 12.4}, {'connected_gene': 'LIG3', 'score': 11.39}, {'connected_gene': 'LINC02001', 'score': 10.77}, {'connected_gene': 'RASL10B', 'score': 10.3}, {'connected_gene': 'C17orf50', 'score': 9.93}, {'connected_gene': 'SLFN12L', 'score': 9.8}, {'connected_gene': 'LOC100420062', 'score': 5.68}, {'connected_gene': 'GAS2L2', 'score': 5.41}, {'connected_gene': 'GC17M035597', 'score': 0.44}]
chr17 GH17I035617 35617055 35617711 0.46 [{'connected_gene': 'AP2B1', 'score': 16.67}, {'connected_gene': 'C17orf50', 'score': 10.72}, {'connected_gene': 'RASL10B', 'score': 10.69}, {'connected_gene': 'TAF15', 'score': 10.62}, {'connected_gene': 'MMP28', 'score': 9.81}, {'connected_gene': 'GC17M035631', 'score': 0.37}, {'connected_gene': 'LOC100420062', 'score': 0.34}]
chr17 GH17I035683 35683787 35685278 0.43 [{'connected_gene': 'AP2B1', 'score': 18.73}, {'connected_gene': 'C17orf50', 'score': 11.05}, {'connected_gene': 'TAF15', 'score': 10.99}, {'connected_gene': 'RASL10B', 'score': 10.9}, {'connected_gene': 'LOC100420062', 'score': 5.45}, {'connected_gene': 'PIR37925', 'score': 0.26}]
chr17 GH17I035529 35529366 35532940 0.93 [{'connected_gene': 'SLFN5', 'score': 16.63}, {'connected_gene': 'AP2B1', 'score': 11.1}, {'connected_gene': 'SLFN13', 'score': 10.93}, {'connected_gene': 'NLE1', 'score': 9.8}, {'connected_gene': 'SLFN12L', 'score': 5.4}, {'connected_gene': 'RASL10B', 'score': 5.14}, {'connected_gene': 'SLFN12', 'score': 4.93}, {'connected_gene': 'CCL5', 'score': 4.74}, {'connected_gene': 'SLFN11', 'score': 4.43}, {'connected_gene': 'RFFL', 'score': 1.84}, {'connected_gene': 'GC17P035523', 'score': 0.44}]
chr17 GH17I035613 35613062 35613191 0.56 [{'connected_gene': 'C17orf50', 'score': 11.18}, {'connected_gene': 'TAF15', 'score': 10.71}, {'connected_gene': 'RASL10B', 'score': 10.65}, {'connected_gene': 'PEX12', 'score': 10.6}, {'connected_gene': 'MMP28', 'score': 10.18}, {'connected_gene': 'LOC100420062', 'score': 0.37}, {'connected_gene': 'GC17M035631', 'score': 0.34}, {'connected_gene': 'AP2B1', 'score': 0.28}]
chr17 GH17I035783 35783027 35789942 1.24 [{'connected_gene': 'C17orf50', 'score': 23.64}, {'connected_gene': 'GAS2L2', 'score': 11.69}, {'connected_gene': 'TAF15', 'score': 11.4}, {'connected_gene': 'RASL10B', 'score': 10.79}, {'connected_gene': 'MMP28', 'score': 9.16}, {'connected_gene': 'RDM1', 'score': 5.48}, {'connected_gene': 'HEATR9', 'score': 4.85}, {'connected_gene': 'GC17P035762', 'score': 0.34}]
chr17 GH17I035666 35666524 35667867 0.67 [{'connected_gene': 'C17orf50', 'score': 10.6}, {'connected_gene': 'AP2B1', 'score': 10.57}, {'connected_gene': 'RASL10B', 'score': 10.37}, {'connected_gene': 'GAS2L2', 'score': 5.48}, {'connected_gene': 'PIR37925', 'score': 0.31}, {'connected_gene': 'TAF15', 'score': 0.25}]
chr17 GH17I035596 35596642 35596771 0.46 [{'connected_gene': 'LOC100420062', 'score': 550.77}, {'connected_gene': 'GC17M035597', 'score': 550.77}, {'connected_gene': 'RASL10B', 'score': 10.2}, {'connected_gene': 'MMP28', 'score': 9.98}, {'connected_gene': 'SLFN12L', 'score': 9.71}, {'connected_gene': 'AP2B1', 'score': 0.37}, {'connected_gene': 'PEX12', 'score': 0.37}]
chr17 GH17I035597 35596966 35598238 0.46 [{'connected_gene': 'LOC100420062', 'score': 556.06}, {'connected_gene': 'GC17M035597', 'score': 550.77}, {'connected_gene': 'AP2B1', 'score': 18.92}, {'connected_gene': 'RASL10B', 'score': 10.2}, {'connected_gene': 'MMP28', 'score': 9.98}, {'connected_gene': 'SLFN12L', 'score': 9.71}, {'connected_gene': 'GAS2L2', 'score': 5.41}, {'connected_gene': 'GC17M035631', 'score': 0.28}]
chr17 GH17I035741 35741222 35741351 0.64 [{'connected_gene': 'GC17P035742', 'score': 550.77}, {'connected_gene': 'MMP28', 'score': 11.16}, {'connected_gene': 'TAF15', 'score': 11.04}, {'connected_gene': 'NLE1', 'score': 9.43}, {'connected_gene': 'RASL10B', 'score': 0.44}, {'connected_gene': 'GC17P035735', 'score': 0.44}, {'connected_gene': 'PIR33765', 'score': 0.44}, {'connected_gene': 'GC17P035734', 'score': 0.44}]
chr17 GH17I035849 35849577 35849746 0.65 [{'connected_gene': 'PIR47475', 'score': 550.77}, {'connected_gene': 'CCL5', 'score': 11.31}, {'connected_gene': 'TAF15', 'score': 11.06}, {'connected_gene': 'C17orf50', 'score': 10.22}, {'connected_gene': 'RASL10B', 'score': 9.6}, {'connected_gene': 'GC17M035815', 'score': 0.37}]
chr17 GH17I035941 35941902 35943676 0.8 [{'connected_gene': 'GC17M036103', 'score': 550.77}, {'connected_gene': 'LYZL6', 'score': 550.77}, {'connected_gene': 'CCL5', 'score': 11.01}, {'connected_gene': 'CCL18', 'score': 10.14}, {'connected_gene': 'RDM1', 'score': 8.64}, {'connected_gene': 'C17orf50', 'score': 7.85}, {'connected_gene': 'RASL10B', 'score': 5.6}, {'connected_gene': 'MMP28', 'score': 4.69}]
chr17 GH17I035559 35559331 35561587 0.97 [{'connected_gene': 'ENSG00000267625', 'score': 550.77}, {'connected_gene': 'SLFN14', 'score': 550.77}, {'connected_gene': 'RASL10B', 'score': 20.73}, {'connected_gene': 'SLFN12L', 'score': 11.26}, {'connected_gene': 'TAF15', 'score': 10.31}, {'connected_gene': 'AP2B1', 'score': 5.73}, {'connected_gene': 'LOC100420062', 'score': 5.51}, {'connected_gene': 'GAS2L2', 'score': 5.38}, {'connected_gene': 'GC17M035546', 'score': 0.44}]
chr17 GH17I035850 35850157 35850291 0.31 [{'connected_gene': 'PIR47475', 'score': 550.77}, {'connected_gene': 'C17orf50', 'score': 19.06}, {'connected_gene': 'CCL5', 'score': 11.31}, {'connected_gene': 'TAF15', 'score': 11.06}, {'connected_gene': 'RASL10B', 'score': 9.6}, {'connected_gene': 'GC17M035815', 'score': 0.37}]
chr17 GH17I035508 35508700 35509720 0.43 [{'connected_gene': 'ENSG00000267074', 'score': 550.77}, {'connected_gene': 'SLFN12L', 'score': 11.42}, {'connected_gene': 'RASL10B', 'score': 5.82}, {'connected_gene': 'PIR52950', 'score': 0.44}, {'connected_gene': 'GC17P035503', 'score': 0.44}]