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
ENST00000336451 [[151725988, 151726402], [151726854, 151726971], [151738413, 151738534], [151742379, 151742456], [151743675, 151743740], [151744659, 151744766], [151748616, 151748717], [151751272, 151751312], [151754289, 151754365], [151757554, 151757689], [151765600, 151765760]] [[151726369, 151726402], [151726854, 151726971], [151738413, 151738534], [151742379, 151742456], [151743675, 151743740], [151744659, 151744766], [151748616, 151748717], [151751272, 151751312], [151754289, 151754345]]
ENST00000367303 [[151725988, 151726402], [151726854, 151726971], [151738413, 151738534], [151742379, 151742456], [151743675, 151743740], [151744659, 151744766], [151748616, 151748717], [151751272, 151751312], [151754289, 151754365], [151757580, 151757689], [151766442, 151766960], [151773150, 151773259]] [[151726369, 151726402], [151726854, 151726971], [151738413, 151738534], [151742379, 151742456], [151743675, 151743740], [151744659, 151744766], [151748616, 151748717], [151751272, 151751312], [151754289, 151754365], [151757580, 151757689], [151766442, 151766946]]
ENST00000444024 [[151738470, 151738534], [151742379, 151742456], [151743675, 151743740], [151744659, 151744766], [151748616, 151748717], [151751272, 151751312], [151754289, 151754365], [151757580, 151757689], [151773150, 151773254]] [[151738470, 151738534], [151742379, 151742456], [151743675, 151743740], [151744659, 151744766], [151748616, 151748717], [151751272, 151751312], [151754289, 151754365], [151757580, 151757683]]
ENST00000491268 [[151757369, 151757689], [151766442, 151766960]] None
NM_017909 [[151725896, 151726402], [151726854, 151726971], [151738413, 151738534], [151742379, 151742456], [151743675, 151743740], [151744659, 151744766], [151748616, 151748717], [151751272, 151751312], [151754289, 151754365], [151757580, 151757689], [151766442, 151766960], [151773150, 151773316]] [[151726369, 151726402], [151726854, 151726971], [151738413, 151738534], [151742379, 151742456], [151743675, 151743740], [151744659, 151744766], [151748616, 151748717], [151751272, 151751312], [151754289, 151754365], [151757580, 151757689], [151766442, 151766946]]
NM_001271937 [[151725896, 151726402], [151726854, 151726971], [151738413, 151738534], [151742379, 151742456], [151743675, 151743740], [151744659, 151744766], [151748616, 151748717], [151751272, 151751312], [151754289, 151754365], [151757580, 151757689], [151773150, 151773316]] [[151726369, 151726402], [151726854, 151726971], [151738413, 151738534], [151742379, 151742456], [151743675, 151743740], [151744659, 151744766], [151748616, 151748717], [151751272, 151751312], [151754289, 151754365], [151757580, 151757683]]
Promoter
Chrom Start End Description
chr6 151773163 151773184 CAGE_peak_3_at_RMND1_5end
chr6 151773201 151773226 CAGE_peak_2_at_RMND1_5end
chr6 151773232 151773298 CAGE_peak_1_at_RMND1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I151323 151323556 151327974 2.17 [{'connected_gene': 'AKAP12', 'score': 555.46}, {'connected_gene': 'ZBTB2', 'score': 10.63}, {'connected_gene': 'ENSG00000232290', 'score': 10.32}, {'connected_gene': 'RMND1', 'score': 5.25}, {'connected_gene': 'RN7SKP268', 'score': 0.44}, {'connected_gene': 'PIR45449', 'score': 0.31}, {'connected_gene': 'GC06P151355', 'score': 0.31}]
chr6 GH06I151379 151379266 151381290 1.29 [{'connected_gene': 'AKAP12', 'score': 10.37}, {'connected_gene': 'RMND1', 'score': 9.79}, {'connected_gene': 'ZBTB2', 'score': 4.51}, {'connected_gene': 'CCDC170', 'score': 2.24}, {'connected_gene': 'GC06M151379', 'score': 0.77}, {'connected_gene': 'ENSG00000252615', 'score': 0.77}]
chr6 GH06I151373 151373183 151375921 1.33 [{'connected_gene': 'AKAP12', 'score': 10.97}, {'connected_gene': 'RMND1', 'score': 5.03}, {'connected_gene': 'GC06M151379', 'score': 0.77}, {'connected_gene': 'ENSG00000252615', 'score': 0.77}, {'connected_gene': 'ZBTB2', 'score': 0.37}, {'connected_gene': 'PIR45449', 'score': 0.34}, {'connected_gene': 'GC06P151355', 'score': 0.34}]
chr6 GH06I151492 151492912 151495295 2.11 [{'connected_gene': 'CCDC170', 'score': 568.54}, {'connected_gene': 'RMND1', 'score': 23.17}, {'connected_gene': 'HSPA8P15', 'score': 16.1}, {'connected_gene': 'ZBTB2', 'score': 12.96}, {'connected_gene': 'ARMT1', 'score': 11.32}, {'connected_gene': 'ESR1', 'score': 4.4}, {'connected_gene': 'GC06M151579', 'score': 0.17}]
chr6 GH06I151441 151441026 151441410 0.49 [{'connected_gene': 'ZBTB2', 'score': 10.77}, {'connected_gene': 'RMND1', 'score': 9.96}, {'connected_gene': 'CCDC170', 'score': 5.98}, {'connected_gene': 'HSPA8P15', 'score': 0.31}]
chr6 GH06I151386 151386946 151393862 2.57 [{'connected_gene': 'ZBTB2', 'score': 556.0}, {'connected_gene': 'HSPA8P15', 'score': 16.16}, {'connected_gene': 'RMND1', 'score': 14.58}, {'connected_gene': 'CCDC170', 'score': 1.24}, {'connected_gene': 'GC06M151379', 'score': 0.39}, {'connected_gene': 'ENSG00000252615', 'score': 0.39}]
chr6 GH06I151475 151475601 151476355 1 [{'connected_gene': 'RMND1', 'score': 13.94}, {'connected_gene': 'CCDC170', 'score': 0.37}, {'connected_gene': 'ARMT1', 'score': 0.34}]
chr6 GH06I151481 151481401 151483399 0.87 [{'connected_gene': 'RMND1', 'score': 10.29}, {'connected_gene': 'CCDC170', 'score': 8.41}, {'connected_gene': 'ZBTB2', 'score': 2.26}, {'connected_gene': 'ARMT1', 'score': 0.29}]
chr6 GH06I151394 151394722 151395575 0.31 [{'connected_gene': 'RMND1', 'score': 20.82}, {'connected_gene': 'ARMT1', 'score': 11.79}, {'connected_gene': 'AKAP12', 'score': 10.54}, {'connected_gene': 'ZBTB2', 'score': 0.77}, {'connected_gene': 'HSPA8P15', 'score': 0.37}]
chr6 GH06I151399 151399356 151400625 0.65 [{'connected_gene': 'RMND1', 'score': 21.76}, {'connected_gene': 'ARMT1', 'score': 11.38}, {'connected_gene': 'AKAP12', 'score': 10.54}, {'connected_gene': 'ZBTB2', 'score': 0.44}, {'connected_gene': 'HSPA8P15', 'score': 0.39}]
chr6 GH06I151487 151487540 151487717 0.22 [{'connected_gene': 'RMND1', 'score': 11.51}, {'connected_gene': 'ARMT1', 'score': 11.51}, {'connected_gene': 'CCDC170', 'score': 0.44}]
chr6 GH06I151501 151501268 151503066 0.84 [{'connected_gene': 'RMND1', 'score': 10.6}, {'connected_gene': 'ARMT1', 'score': 10.6}, {'connected_gene': 'CCDC170', 'score': 9.19}, {'connected_gene': 'GC06M151579', 'score': 0.18}]
chr6 GH06I151505 151505686 151505835 0.31 [{'connected_gene': 'RMND1', 'score': 10.59}, {'connected_gene': 'ARMT1', 'score': 10.59}, {'connected_gene': 'CCDC170', 'score': 0.39}, {'connected_gene': 'GC06M151579', 'score': 0.18}]
chr6 GH06I151425 151425166 151426114 0.38 [{'connected_gene': 'RMND1', 'score': 26.91}, {'connected_gene': 'ARMT1', 'score': 11.8}, {'connected_gene': 'ZBTB2', 'score': 11.49}, {'connected_gene': 'AKAP12', 'score': 9.5}, {'connected_gene': 'HSPA8P15', 'score': 0.39}]
chr6 GH06I151497 151497202 151500400 1.25 [{'connected_gene': 'RMND1', 'score': 23.58}, {'connected_gene': 'ARMT1', 'score': 11.16}, {'connected_gene': 'RNU6-813P', 'score': 10.8}, {'connected_gene': 'CCDC170', 'score': 10.58}, {'connected_gene': 'ZBTB2', 'score': 1.23}, {'connected_gene': 'GC06M151579', 'score': 0.18}]
chr6 GH06I151450 151450801 151453801 2.12 [{'connected_gene': 'RMND1', 'score': 566.61}, {'connected_gene': 'ARMT1', 'score': 550.77}, {'connected_gene': 'HSPA8P15', 'score': 25.76}, {'connected_gene': 'ZBTB2', 'score': 23.69}, {'connected_gene': 'CCDC170', 'score': 0.26}]
chr6 GH06I151444 151444710 151447624 0.91 [{'connected_gene': 'RMND1', 'score': 16.09}, {'connected_gene': 'ZBTB2', 'score': 11.16}, {'connected_gene': 'CCDC170', 'score': 5.94}, {'connected_gene': 'HSPA8P15', 'score': 0.29}]
chr6 GH06I151385 151385266 151385455 0.72 [{'connected_gene': 'RMND1', 'score': 8.82}, {'connected_gene': 'ZBTB2', 'score': 0.44}, {'connected_gene': 'GC06M151379', 'score': 0.44}, {'connected_gene': 'ENSG00000252615', 'score': 0.44}]
chr6 GH06I151334 151334800 151335575 0.89 [{'connected_gene': 'RMND1', 'score': 5.92}, {'connected_gene': 'PIR45449', 'score': 0.37}, {'connected_gene': 'RN7SKP268', 'score': 0.37}, {'connected_gene': 'GC06P151355', 'score': 0.37}, {'connected_gene': 'AKAP12', 'score': 0.15}]
chr6 GH06I151436 151436209 151438591 1.5 [{'connected_gene': 'RMND1', 'score': 568.96}, {'connected_gene': 'HSPA8P15', 'score': 0.34}]
chr6 GH06I151409 151409434 151409618 0.34 [{'connected_gene': 'HSPA8P15', 'score': 0.77}, {'connected_gene': 'ZBTB2', 'score': 0.37}, {'connected_gene': 'RMND1', 'score': 0.26}]
chr6 GH06I151413 151413643 151414495 0.43 [{'connected_gene': 'HSPA8P15', 'score': 562.64}, {'connected_gene': 'RMND1', 'score': 27.03}, {'connected_gene': 'ZBTB2', 'score': 12.34}, {'connected_gene': 'ARMT1', 'score': 11.61}]