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
ENST00000584284 [[80272743, 80274285], [80274542, 80274857], [80275289, 80275453]] [[80274016, 80274285], [80274542, 80274857], [80275289, 80275371]]
ENST00000312648 [[80272745, 80273307], [80274070, 80274285], [80274542, 80274857], [80275289, 80275478]] [[80273196, 80273307], [80274070, 80274285], [80274542, 80274857], [80275289, 80275371]]
ENST00000583376 [[80272749, 80273307], [80274070, 80274285], [80274542, 80275428]] [[80273196, 80273307], [80274070, 80274285], [80274542, 80274639]]
ENST00000578509 [[80273850, 80274285], [80274542, 80274887], [80275289, 80275434]] [[80274016, 80274285], [80274542, 80274639]]
ENST00000581744 [[80274007, 80274857], [80275289, 80275429]] None
ENST00000581434 [[80274095, 80274285], [80274542, 80274787], [80275289, 80275426]] [[80274761, 80274787], [80275289, 80275371]]
ENST00000582480 [[80274260, 80274285], [80274542, 80274915], [80275289, 80275455]] [[80274260, 80274285], [80274542, 80274915], [80275289, 80275371]]
NM_006137 [[80272745, 80273307], [80274070, 80274285], [80274542, 80274857], [80275289, 80275480]] [[80273196, 80273307], [80274070, 80274285], [80274542, 80274857], [80275289, 80275371]]
Promoter
Chrom Start End Description
chr17 80275399 80275416 CAGE_peak_3_at_CD7_5end
chr17 80275417 80275463 CAGE_peak_1_at_CD7_5end
chr17 80275466 80275501 CAGE_peak_2_at_CD7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I082313 82313689 82318415 1.72 [{'connected_gene': 'CD7', 'score': 550.77}, {'connected_gene': 'TEX19', 'score': 14.79}, {'connected_gene': 'CSNK1D', 'score': 5.37}, {'connected_gene': 'UTS2R', 'score': 5.14}, {'connected_gene': 'ENSG00000260563', 'score': 0.34}]
chr17 GH17I082256 82256648 82258057 1.13 [{'connected_gene': 'SLC16A3', 'score': 11.11}, {'connected_gene': 'DCXR', 'score': 7.5}, {'connected_gene': 'CSNK1D', 'score': 6.03}, {'connected_gene': 'C17orf62', 'score': 3.02}, {'connected_gene': 'CCDC57', 'score': 1.94}, {'connected_gene': 'NARF', 'score': 1.76}, {'connected_gene': 'CD7', 'score': 1.44}, {'connected_gene': 'WDR45B', 'score': 1.36}, {'connected_gene': 'SIRT7', 'score': 1.3}, {'connected_gene': 'PIR35303', 'score': 0.77}]
chr17 GH17I081424 81424701 81424850 1.07 [{'connected_gene': 'OGFOD3', 'score': 66.37}, {'connected_gene': 'FAAP100', 'score': 57.09}, {'connected_gene': 'CEP131', 'score': 48.29}, {'connected_gene': 'ENSG00000262877', 'score': 42.76}, {'connected_gene': 'TEPSIN', 'score': 38.47}, {'connected_gene': 'ENSG00000265678', 'score': 32.3}, {'connected_gene': 'HEXDC', 'score': 30.92}, {'connected_gene': 'HGS', 'score': 29.7}, {'connected_gene': 'ENSG00000260563', 'score': 25.93}, {'connected_gene': 'ENSG00000260369', 'score': 25.35}, {'connected_gene': 'ENSG00000260011', 'score': 24.15}, {'connected_gene': 'ARL16', 'score': 22.63}, {'connected_gene': 'CCDC57', 'score': 20.92}, {'connected_gene': 'TSPAN10', 'score': 20.16}, {'connected_gene': 'CSNK1D', 'score': 20.15}, {'connected_gene': 'GPS1', 'score': 19.9}, {'connected_gene': 'OXLD1', 'score': 14.47}, {'connected_gene': 'ALYREF', 'score': 12.74}, {'connected_gene': 'CCDC137', 'score': 11.63}, {'connected_gene': 'DUS1L', 'score': 10.89}, {'connected_gene': 'CD7', 'score': 10.71}, {'connected_gene': 'SLC38A10', 'score': 10.7}, {'connected_gene': 'LOC105371925', 'score': 10.66}, {'connected_gene': 'LOC100130370', 'score': 10.66}, {'connected_gene': 'ENSG00000264548', 'score': 10.27}, {'connected_gene': 'MCRIP1', 'score': 10.01}, {'connected_gene': 'ENSG00000229848', 'score': 9.89}, {'connected_gene': 'RFNG', 'score': 9.71}, {'connected_gene': 'GC17M081444', 'score': 0.34}, {'connected_gene': 'MIR4740', 'score': 0.34}, {'connected_gene': 'BAHCC1', 'score': 0.31}]
chr17 GH17I082337 82337635 82339904 1.38 [{'connected_gene': 'TEX19', 'score': 15.02}, {'connected_gene': 'CD7', 'score': 13.1}, {'connected_gene': 'ENSG00000260011', 'score': 7.23}, {'connected_gene': 'SECTM1', 'score': 0.77}]
chr17 GH17I082309 82309698 82310850 0.99 [{'connected_gene': 'TEX19', 'score': 11.91}, {'connected_gene': 'CD7', 'score': 0.44}, {'connected_gene': 'ENSG00000260563', 'score': 0.37}]
chr17 GH17I082518 82518610 82523302 2.28 [{'connected_gene': 'FOXK2', 'score': 567.38}, {'connected_gene': 'LOC105371942', 'score': 17.87}, {'connected_gene': 'ALYREF', 'score': 13.41}, {'connected_gene': 'CD7', 'score': 10.76}, {'connected_gene': 'HGS', 'score': 10.43}, {'connected_gene': 'C17orf62', 'score': 10.15}, {'connected_gene': 'HEXDC', 'score': 4.9}, {'connected_gene': 'ENSG00000262652', 'score': 4.24}, {'connected_gene': 'GC17M082549', 'score': 0.31}]
chr17 GH17I082200 82200001 82201828 1.35 [{'connected_gene': 'CCDC57', 'score': 44.37}, {'connected_gene': 'HGS', 'score': 13.73}, {'connected_gene': 'NARF-IT1', 'score': 13.26}, {'connected_gene': 'ACTG1', 'score': 12.87}, {'connected_gene': 'TEPSIN', 'score': 11.88}, {'connected_gene': 'ARHGDIA', 'score': 11.07}, {'connected_gene': 'CSNK1D', 'score': 10.8}, {'connected_gene': 'ENSG00000260563', 'score': 10.79}, {'connected_gene': 'ALYREF', 'score': 10.6}, {'connected_gene': 'CD7', 'score': 9.55}, {'connected_gene': 'HEXDC', 'score': 6.28}, {'connected_gene': 'NARF', 'score': 4.25}, {'connected_gene': 'DUS1L', 'score': 1.46}, {'connected_gene': 'GC17M082163', 'score': 0.28}]
chr17 GH17I082291 82291296 82305970 2.38 [{'connected_gene': 'CSNK1D', 'score': 59.13}, {'connected_gene': 'HGS', 'score': 39.46}, {'connected_gene': 'ENSG00000260563', 'score': 38.5}, {'connected_gene': 'NARF-IT1', 'score': 35.54}, {'connected_gene': 'ALYREF', 'score': 32.23}, {'connected_gene': 'FAAP100', 'score': 26.97}, {'connected_gene': 'TEX19', 'score': 25.52}, {'connected_gene': 'ENSG00000262652', 'score': 25.14}, {'connected_gene': 'ARL2BPP9', 'score': 23.79}, {'connected_gene': 'DUS1L', 'score': 23.67}, {'connected_gene': 'SLC16A3', 'score': 21.78}, {'connected_gene': 'ENSG00000265678', 'score': 21.0}, {'connected_gene': 'TBCD', 'score': 19.44}, {'connected_gene': 'SECTM1', 'score': 16.4}, {'connected_gene': 'CCDC57', 'score': 14.52}, {'connected_gene': 'CD7', 'score': 13.17}, {'connected_gene': 'C17orf62', 'score': 13.12}, {'connected_gene': 'ACTG1', 'score': 12.87}, {'connected_gene': 'HEXDC', 'score': 12.21}, {'connected_gene': 'OGFOD3', 'score': 11.68}, {'connected_gene': 'ARHGDIA', 'score': 11.06}, {'connected_gene': 'LOC105371942', 'score': 10.86}, {'connected_gene': 'RFNG', 'score': 9.94}, {'connected_gene': 'FOXK2', 'score': 9.91}, {'connected_gene': 'CCDC137', 'score': 9.8}, {'connected_gene': 'UTS2R', 'score': 4.97}, {'connected_gene': 'SIRT7', 'score': 3.72}, {'connected_gene': 'NARF', 'score': 3.13}, {'connected_gene': 'MAFG', 'score': 1.48}, {'connected_gene': 'LINC01970', 'score': 0.44}]
chr17 GH17I081888 81888845 81893147 2.05 [{'connected_gene': 'ALYREF', 'score': 574.02}, {'connected_gene': 'ANAPC11', 'score': 550.77}, {'connected_gene': 'PIR40053', 'score': 550.77}, {'connected_gene': 'HGS', 'score': 22.85}, {'connected_gene': 'CSNK1D', 'score': 22.17}, {'connected_gene': 'ENSG00000260563', 'score': 20.67}, {'connected_gene': 'TEPSIN', 'score': 18.83}, {'connected_gene': 'LOC105371942', 'score': 17.69}, {'connected_gene': 'FAAP100', 'score': 14.18}, {'connected_gene': 'NARF-IT1', 'score': 14.15}, {'connected_gene': 'ENSG00000265678', 'score': 12.17}, {'connected_gene': 'HEXDC', 'score': 12.08}, {'connected_gene': 'DUS1L', 'score': 12.0}, {'connected_gene': 'CHMP6', 'score': 11.77}, {'connected_gene': 'CEP131', 'score': 11.5}, {'connected_gene': 'ENSG00000264769', 'score': 11.13}, {'connected_gene': 'ENSG00000262652', 'score': 10.89}, {'connected_gene': 'CD7', 'score': 10.73}, {'connected_gene': 'FOXK2', 'score': 10.44}, {'connected_gene': 'ARL2BPP9', 'score': 10.29}, {'connected_gene': 'C17orf62', 'score': 9.98}, {'connected_gene': 'SECTM1', 'score': 9.81}, {'connected_gene': 'NPLOC4', 'score': 9.71}]
chr17 GH17I081425 81425839 81425899 0.7 [{'connected_gene': 'ENSG00000262877', 'score': 24.38}, {'connected_gene': 'FAAP100', 'score': 15.43}, {'connected_gene': 'OGFOD3', 'score': 13.27}, {'connected_gene': 'ENSG00000265678', 'score': 12.82}, {'connected_gene': 'ENSG00000260011', 'score': 12.06}, {'connected_gene': 'CSNK1D', 'score': 11.02}, {'connected_gene': 'CD7', 'score': 10.71}, {'connected_gene': 'LOC100130370', 'score': 10.66}, {'connected_gene': 'HGS', 'score': 10.34}, {'connected_gene': 'ENSG00000260369', 'score': 10.22}, {'connected_gene': 'CCDC57', 'score': 10.2}, {'connected_gene': 'TEPSIN', 'score': 9.85}, {'connected_gene': 'BAHCC1', 'score': 1.5}, {'connected_gene': 'GCGR', 'score': 1.28}, {'connected_gene': 'GC17M081444', 'score': 0.34}, {'connected_gene': 'MIR4740', 'score': 0.31}]
chr17 GH17I082550 82550879 82550910 0.22 [{'connected_gene': 'GC17M082549', 'score': 550.77}, {'connected_gene': 'TEX19', 'score': 11.07}, {'connected_gene': 'CD7', 'score': 2.79}, {'connected_gene': 'CCDC57', 'score': 1.44}, {'connected_gene': 'ARL2BPP9', 'score': 0.31}, {'connected_gene': 'FOXK2', 'score': 0.29}]
chr17 GH17I082319 82319684 82322745 1.29 [{'connected_gene': 'GC17M082322', 'score': 550.77}, {'connected_gene': 'TEX19', 'score': 17.09}, {'connected_gene': 'ENSG00000260011', 'score': 8.0}, {'connected_gene': 'OGFOD3', 'score': 5.08}, {'connected_gene': 'CD7', 'score': 0.77}, {'connected_gene': 'SECTM1', 'score': 0.39}]