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
ENST00000246006 [[23059985, 23064611], [23064895, 23066977]] [[23064586, 23064611], [23064895, 23066829]]
NM_012072 [[23059992, 23064611], [23064895, 23066977]] [[23064586, 23064611], [23064895, 23066829]]
Promoter
Chrom Start End Description
chr20 23066953 23066974 CAGE_peak_1_at_CD93_5end
chr20 23066988 23066999 CAGE_peak_3_at_CD93_5end
chr20 23067005 23067021 CAGE_peak_2_at_CD93_5end
chr20 23067025 23067034 CAGE_peak_4_at_CD93_5end
chr20 23067119 23067126 CAGE_peak_5_at_CD93_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I023047 23047457 23052407 2.42 [{'connected_gene': 'THBD', 'score': 553.69}, {'connected_gene': 'GC20P023049', 'score': 550.77}, {'connected_gene': 'CD93', 'score': 5.15}, {'connected_gene': 'GZF1', 'score': 1.3}, {'connected_gene': 'GC20P023047', 'score': 0.77}, {'connected_gene': 'GC20P023071', 'score': 0.34}]
chr20 GH20I023245 23245600 23246200 1.32 [{'connected_gene': 'NXT1', 'score': 24.39}, {'connected_gene': 'THBD', 'score': 13.13}, {'connected_gene': 'CD93', 'score': 12.79}, {'connected_gene': 'NAPB', 'score': 3.12}, {'connected_gene': 'ENSG00000230387', 'score': 0.22}, {'connected_gene': 'ENSG00000277901', 'score': 0.18}]
chr20 GH20I023366 23366001 23367312 1.42 [{'connected_gene': 'NAPB', 'score': 17.8}, {'connected_gene': 'CSTL1', 'score': 6.55}, {'connected_gene': 'CD93', 'score': 2.07}, {'connected_gene': 'GZF1', 'score': 1.58}, {'connected_gene': 'THBD', 'score': 1.32}, {'connected_gene': 'RNA5SP479', 'score': 0.39}, {'connected_gene': 'GC20M023381', 'score': 0.39}]
chr20 GH20I023119 23119069 23120200 1.03 [{'connected_gene': 'CD93', 'score': 32.98}, {'connected_gene': 'THBD', 'score': 1.58}, {'connected_gene': 'GZF1', 'score': 1.16}, {'connected_gene': 'LINC00656', 'score': 0.39}]
chr20 GH20I023102 23102096 23107978 1.19 [{'connected_gene': 'CD93', 'score': 28.3}, {'connected_gene': 'THBD', 'score': 3.32}, {'connected_gene': 'GZF1', 'score': 1.69}, {'connected_gene': 'LINC00656', 'score': 0.31}]
chr20 GH20I023094 23094852 23095284 0.86 [{'connected_gene': 'CD93', 'score': 4.92}, {'connected_gene': 'THBD', 'score': 4.43}, {'connected_gene': 'GZF1', 'score': 1.84}, {'connected_gene': 'LINC00656', 'score': 0.28}]
chr20 GH20I023080 23080477 23088517 2.23 [{'connected_gene': 'CD93', 'score': 574.34}, {'connected_gene': 'THBD', 'score': 6.51}, {'connected_gene': 'GZF1', 'score': 2.74}, {'connected_gene': 'ENSG00000279447', 'score': 0.39}]
chr20 GH20I023097 23096580 23097803 0.8 [{'connected_gene': 'CD93', 'score': 5.14}, {'connected_gene': 'THBD', 'score': 3.02}, {'connected_gene': 'LINC00656', 'score': 0.28}]
chr20 GH20I023077 23077414 23079995 0.54 [{'connected_gene': 'CD93', 'score': 6.51}, {'connected_gene': 'THBD', 'score': 5.39}, {'connected_gene': 'ENSG00000279447', 'score': 0.44}]
chr20 GH20I023096 23096180 23096401 0.59 [{'connected_gene': 'CD93', 'score': 14.28}, {'connected_gene': 'GZF1', 'score': 1.53}, {'connected_gene': 'LINC00656', 'score': 0.28}]
chr20 GH20I023141 23141005 23163013 1.83 [{'connected_gene': 'CD93', 'score': 43.97}, {'connected_gene': 'NXT1', 'score': 25.67}, {'connected_gene': 'THBD', 'score': 17.71}, {'connected_gene': 'ENSG00000230387', 'score': 7.44}, {'connected_gene': 'GZF1', 'score': 3.46}, {'connected_gene': 'CST3', 'score': 1.55}, {'connected_gene': 'ENSG00000279164', 'score': 0.77}, {'connected_gene': 'RNA5SP478', 'score': 0.44}, {'connected_gene': 'LOC100505664', 'score': 0.44}]
chr20 GH20I023135 23135465 23138533 1.5 [{'connected_gene': 'CD93', 'score': 28.58}, {'connected_gene': 'NXT1', 'score': 25.4}, {'connected_gene': 'ENSG00000234832', 'score': 10.23}, {'connected_gene': 'ENSG00000230387', 'score': 4.64}, {'connected_gene': 'LINC00656', 'score': 0.77}, {'connected_gene': 'ENSG00000279164', 'score': 0.39}]
chr20 GH20I023138 23138923 23140014 1 [{'connected_gene': 'CD93', 'score': 16.36}, {'connected_gene': 'NXT1', 'score': 10.23}, {'connected_gene': 'ENSG00000234832', 'score': 10.23}, {'connected_gene': 'LINC00656', 'score': 0.44}, {'connected_gene': 'ENSG00000279164', 'score': 0.44}]
chr20 GH20I023255 23255829 23259504 1.17 [{'connected_gene': 'CD93', 'score': 12.29}, {'connected_gene': 'NXT1', 'score': 9.86}, {'connected_gene': 'ENSG00000234832', 'score': 9.86}, {'connected_gene': 'CSTL1', 'score': 9.51}, {'connected_gene': 'ENSG00000230387', 'score': 4.82}, {'connected_gene': 'ENSG00000277901', 'score': 0.2}]
chr20 GH20I023165 23165484 23165633 0.43 [{'connected_gene': 'CD93', 'score': 10.83}, {'connected_gene': 'NXT1', 'score': 10.1}, {'connected_gene': 'ENSG00000234832', 'score': 10.1}, {'connected_gene': 'RNA5SP478', 'score': 0.77}, {'connected_gene': 'LOC100505664', 'score': 0.44}, {'connected_gene': 'ENSG00000275179', 'score': 0.39}]
chr20 GH20I023201 23201064 23201173 0.66 [{'connected_gene': 'CD93', 'score': 10.88}, {'connected_gene': 'NXT1', 'score': 9.75}, {'connected_gene': 'ENSG00000234832', 'score': 9.74}, {'connected_gene': 'ENSG00000230387', 'score': 0.39}, {'connected_gene': 'ENSG00000277901', 'score': 0.13}]
chr20 GH20I023212 23212144 23212413 0.56 [{'connected_gene': 'CD93', 'score': 10.52}, {'connected_gene': 'NXT1', 'score': 9.74}, {'connected_gene': 'ENSG00000234832', 'score': 9.74}, {'connected_gene': 'ENSG00000230387', 'score': 0.34}, {'connected_gene': 'ENSG00000277901', 'score': 0.14}]
chr20 GH20I023204 23204413 23206684 0.76 [{'connected_gene': 'CD93', 'score': 10.87}, {'connected_gene': 'NXT1', 'score': 9.75}, {'connected_gene': 'ENSG00000234832', 'score': 9.75}, {'connected_gene': 'ENSG00000230387', 'score': 5.81}, {'connected_gene': 'ENSG00000277901', 'score': 0.13}]
chr20 GH20I023124 23124401 23127999 1.05 [{'connected_gene': 'CD93', 'score': 34.9}, {'connected_gene': 'LINC00656', 'score': 0.44}]
chr20 GH20I023099 23099532 23101440 0.74 [{'connected_gene': 'CD93', 'score': 0.39}, {'connected_gene': 'LINC00656', 'score': 0.29}]
chr20 GH20I023128 23128601 23128800 0.4 [{'connected_gene': 'CD93', 'score': 12.04}, {'connected_gene': 'LINC00656', 'score': 0.77}]
chr20 GH20I023112 23112649 23112843 0.45 [{'connected_gene': 'CD93', 'score': 31.25}, {'connected_gene': 'LINC00656', 'score': 0.37}]
chr20 GH20I023113 23113267 23118069 1.16 [{'connected_gene': 'CD93', 'score': 31.14}, {'connected_gene': 'LINC00656', 'score': 0.37}]
chr20 GH20I023122 23121304 23121453 0.76 [{'connected_gene': 'CD93', 'score': 12.15}, {'connected_gene': 'LINC00656', 'score': 0.39}]
chr20 GH20I023121 23121458 23121647 0.83 [{'connected_gene': 'CD93', 'score': 29.74}, {'connected_gene': 'LINC00656', 'score': 0.39}]
chr20 GH20I023091 23091637 23093287 1.05 [{'connected_gene': 'CD93', 'score': 0.44}, {'connected_gene': 'LINC00656', 'score': 0.26}]
chr20 GH20I023224 23224818 23226106 1.2 [{'connected_gene': 'CD93', 'score': 14.91}, {'connected_gene': 'ENSG00000230387', 'score': 8.87}, {'connected_gene': 'CST3', 'score': 3.74}, {'connected_gene': 'THBD', 'score': 2.43}, {'connected_gene': 'GZF1', 'score': 1.37}, {'connected_gene': 'ENSG00000277901', 'score': 0.15}]
chr20 GH20I022557 22557113 22558816 0.31 [{'connected_gene': 'CD93', 'score': 4.38}, {'connected_gene': 'LINC00261', 'score': 0.34}, {'connected_gene': 'GC20P022525', 'score': 0.29}]
chr20 GH20I023332 23332104 23332213 0.68 [{'connected_gene': 'CD93', 'score': 9.82}, {'connected_gene': 'CSTL1', 'score': 9.6}, {'connected_gene': 'LOC105372571', 'score': 0.77}, {'connected_gene': 'ENSG00000277901', 'score': 0.44}, {'connected_gene': 'LOC105372572', 'score': 0.37}]
chr20 GH20I022808 22807803 22807952 0.52 [{'connected_gene': 'CD93', 'score': 10.21}, {'connected_gene': 'LOC105372568', 'score': 0.77}, {'connected_gene': 'CYB5AP4', 'score': 0.18}]
chr20 GH20I022793 22793938 22797582 0.92 [{'connected_gene': 'CD93', 'score': 9.83}, {'connected_gene': 'LOC105372568', 'score': 0.44}, {'connected_gene': 'GC20M022777', 'score': 0.37}]
chr20 GH20I023059 23059712 23063083 1.34 [{'connected_gene': 'CD93', 'score': 20.05}, {'connected_gene': 'ENSG00000234646', 'score': 11.11}, {'connected_gene': 'LOC101929707', 'score': 10.93}, {'connected_gene': 'THBD', 'score': 8.13}, {'connected_gene': 'GC20P023071', 'score': 0.39}, {'connected_gene': 'GC20P023049', 'score': 0.39}]
chr20 GH20I023027 23027436 23028507 0.58 [{'connected_gene': 'CD93', 'score': 10.46}, {'connected_gene': 'LOC101929707', 'score': 0.77}, {'connected_gene': 'LOC100419956', 'score': 0.21}]
chr20 GH20I023163 23163144 23163229 0.4 [{'connected_gene': 'CD93', 'score': 11.58}, {'connected_gene': 'LOC100505664', 'score': 0.77}, {'connected_gene': 'RNA5SP478', 'score': 0.77}, {'connected_gene': 'ENSG00000275179', 'score': 0.37}]
chr20 GH20I023164 23163955 23164925 0.77 [{'connected_gene': 'CD93', 'score': 11.22}, {'connected_gene': 'LOC100505664', 'score': 0.77}, {'connected_gene': 'RNA5SP478', 'score': 0.77}, {'connected_gene': 'ENSG00000275179', 'score': 0.37}]
chr20 GH20I023228 23227084 23227193 0.2 [{'connected_gene': 'CD93', 'score': 10.97}, {'connected_gene': 'ENSG00000230387', 'score': 0.28}, {'connected_gene': 'ENSG00000277901', 'score': 0.15}]
chr20 GH20I023227 23227044 23227073 0.2 [{'connected_gene': 'CD93', 'score': 10.97}, {'connected_gene': 'ENSG00000230387', 'score': 0.28}, {'connected_gene': 'ENSG00000277901', 'score': 0.15}]
chr20 GH20I023226 23226924 23226933 0.2 [{'connected_gene': 'CD93', 'score': 10.97}, {'connected_gene': 'ENSG00000230387', 'score': 0.28}, {'connected_gene': 'ENSG00000277901', 'score': 0.15}]
chr20 GH20I023129 23129001 23134624 1.58 [{'connected_gene': 'LINC00656', 'score': 550.77}, {'connected_gene': 'CD93', 'score': 38.66}, {'connected_gene': 'NXT1', 'score': 10.23}, {'connected_gene': 'ENSG00000234832', 'score': 10.23}, {'connected_gene': 'ENSG00000230387', 'score': 4.37}, {'connected_gene': 'THBD', 'score': 2.15}, {'connected_gene': 'GZF1', 'score': 1.26}]
chr20 GH20I022807 22807357 22807683 0.62 [{'connected_gene': 'LOC105372568', 'score': 550.77}, {'connected_gene': 'CD93', 'score': 10.21}, {'connected_gene': 'CYB5AP4', 'score': 0.18}]
chr20 GH20I022809 22807203 22807352 0.59 [{'connected_gene': 'LOC105372568', 'score': 550.77}, {'connected_gene': 'CD93', 'score': 10.21}, {'connected_gene': 'CYB5AP4', 'score': 0.18}]
chr20 GH20I023046 23046584 23046753 0.52 [{'connected_gene': 'GC20P023047', 'score': 550.77}, {'connected_gene': 'CD93', 'score': 11.07}, {'connected_gene': 'THBD', 'score': 0.77}, {'connected_gene': 'SSTR4', 'score': 0.39}]
chr20 GH20I023022 23022089 23022233 0.45 [{'connected_gene': 'ENSG00000234646', 'score': 19.14}, {'connected_gene': 'CD93', 'score': 3.27}, {'connected_gene': 'GZF1', 'score': 1.89}, {'connected_gene': 'LOC101929707', 'score': 0.44}, {'connected_gene': 'LOC100419956', 'score': 0.22}]
chr20 GH20I023180 23179562 23179702 0.2 [{'connected_gene': 'ENSG00000275179', 'score': 550.77}, {'connected_gene': 'ENSG00000230387', 'score': 10.66}, {'connected_gene': 'CD93', 'score': 10.51}, {'connected_gene': 'NXT1', 'score': 10.13}, {'connected_gene': 'ENSG00000234832', 'score': 10.13}, {'connected_gene': 'RNA5SP478', 'score': 0.37}, {'connected_gene': 'LOC100505664', 'score': 0.34}]
chr20 GH20I023178 23178322 23179553 0.92 [{'connected_gene': 'ENSG00000275179', 'score': 550.77}, {'connected_gene': 'CD93', 'score': 10.95}, {'connected_gene': 'ENSG00000230387', 'score': 10.73}, {'connected_gene': 'NXT1', 'score': 10.13}, {'connected_gene': 'ENSG00000234832', 'score': 10.13}, {'connected_gene': 'LOC100505664', 'score': 0.37}, {'connected_gene': 'RNA5SP478', 'score': 0.37}]
chr20 GH20I023234 23234240 23235673 0.89 [{'connected_gene': 'ENSG00000230387', 'score': 11.09}, {'connected_gene': 'CD93', 'score': 10.57}, {'connected_gene': 'NXT1', 'score': 10.15}, {'connected_gene': 'ENSG00000234832', 'score': 10.15}, {'connected_gene': 'ENSG00000277901', 'score': 0.16}]
chr20 GH20I023186 23186757 23188327 0.8 [{'connected_gene': 'ENSG00000230387', 'score': 571.14}, {'connected_gene': 'CD93', 'score': 10.69}, {'connected_gene': 'ENSG00000275179', 'score': 0.44}, {'connected_gene': 'LOC100505664', 'score': 0.31}]
chr20 GH20I023071 23071952 23074166 0.52 [{'connected_gene': 'GC20P023071', 'score': 550.77}, {'connected_gene': 'ENSG00000279447', 'score': 550.77}, {'connected_gene': 'CD93', 'score': 6.19}]
chr20 GH20I023193 23193564 23194511 1.13 [{'connected_gene': 'ENSG00000230387', 'score': 10.57}, {'connected_gene': 'CD93', 'score': 5.0}, {'connected_gene': 'ENSG00000277901', 'score': 0.12}]
chr20 GH20I023179 23179801 23181193 1.13 [{'connected_gene': 'ENSG00000275179', 'score': 550.77}, {'connected_gene': 'CST8', 'score': 58.67}, {'connected_gene': 'CST9L', 'score': 54.84}, {'connected_gene': 'CSTL1', 'score': 42.69}, {'connected_gene': 'CD93', 'score': 10.51}, {'connected_gene': 'ENSG00000234832', 'score': 10.13}, {'connected_gene': 'NXT1', 'score': 10.13}, {'connected_gene': 'ENSG00000230387', 'score': 6.77}, {'connected_gene': 'LOC100505664', 'score': 0.34}]