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
ENST00000257766 [[84833959, 84834995], [84836096, 84836231], [84856405, 84856504], [84859280, 84859422], [84862263, 84862898], [84865016, 84865229], [84870530, 84870635], [84871464, 84871628], [84872862, 84872989], [84879046, 84879152], [84881324, 84881437], [84883766, 84883907], [84884445, 84884673], [84884932, 84885066], [84894904, 84895166], [84896049, 84896341], [84903326, 84903408], [84904601, 84904793], [84910506, 84910623], [84911454, 84911485], [84913698, 84913814], [84922674, 84922742], [84924999, 84925183], [84925493, 84925640], [84927516, 84927578], [84930774, 84930889], [84937297, 84937314]] [[84834788, 84834995], [84836096, 84836231], [84856405, 84856504], [84859280, 84859422], [84862263, 84862898], [84865016, 84865229], [84870530, 84870635], [84871464, 84871628], [84872862, 84872989], [84879046, 84879152], [84881324, 84881437], [84883766, 84883907], [84884445, 84884673], [84884932, 84885066], [84894904, 84895166], [84896049, 84896341], [84903326, 84903408], [84904601, 84904793], [84910506, 84910623], [84911454, 84911485], [84913698, 84913814], [84922674, 84922742], [84924999, 84925183], [84925493, 84925584]]
ENST00000403245 [[84833959, 84834995], [84836096, 84836231], [84856405, 84856504], [84859280, 84859422], [84862263, 84862898], [84865016, 84865229], [84870530, 84870635], [84871464, 84871628], [84872862, 84872989], [84879046, 84879152], [84881324, 84881437], [84883766, 84883907], [84884445, 84884673], [84884932, 84885066], [84894904, 84895166], [84896049, 84896341], [84903326, 84903408], [84904601, 84904793], [84910506, 84910623], [84911454, 84911485], [84913698, 84913814], [84922674, 84922742], [84924999, 84925183], [84925493, 84925640], [84930774, 84930889], [84936054, 84936170], [84937297, 84937353]] [[84834788, 84834995], [84836096, 84836231], [84856405, 84856504], [84859280, 84859422], [84862263, 84862898], [84865016, 84865229], [84870530, 84870635], [84871464, 84871628], [84872862, 84872989], [84879046, 84879152], [84881324, 84881437], [84883766, 84883907], [84884445, 84884673], [84884932, 84885066], [84894904, 84895166], [84896049, 84896341], [84903326, 84903408], [84904601, 84904793], [84910506, 84910623], [84911454, 84911485], [84913698, 84913814], [84922674, 84922742], [84924999, 84925183], [84925493, 84925640], [84930774, 84930889], [84936054, 84936111]]
ENST00000497936 [[84884490, 84884673], [84884928, 84885066], [84894904, 84895166], [84896049, 84896341], [84903326, 84903408], [84904601, 84904793], [84910506, 84910623], [84911454, 84911485], [84913698, 84913814], [84922674, 84922742], [84924999, 84925183], [84925493, 84925640], [84930774, 84930889], [84936054, 84936170], [84937297, 84937326]] None
ENST00000435955 [[84925125, 84925183], [84925493, 84925640], [84928820, 84928932], [84930774, 84930889], [84936054, 84936170], [84937297, 84937335]] [[84928885, 84928932], [84930774, 84930889], [84936054, 84936111]]
ENST00000461137 [[84833959, 84834995], [84836096, 84836231], [84856405, 84856504], [84859280, 84859422], [84862263, 84862898], [84865016, 84865229], [84870530, 84870635], [84871464, 84871628], [84872862, 84872989], [84879046, 84879152], [84881324, 84881437], [84883766, 84883907], [84884445, 84884673], [84884928, 84885066], [84894904, 84895166], [84896049, 84896341], [84903326, 84903408], [84904601, 84904748]] None
ENST00000487999 [[84834673, 84834995], [84836096, 84836231], [84856405, 84856504], [84859280, 84859422], [84862263, 84862898], [84865016, 84865313]] None
NM_014895 [[84833959, 84834995], [84836096, 84836231], [84856405, 84856504], [84859280, 84859422], [84862263, 84862898], [84865016, 84865229], [84870530, 84870635], [84871464, 84871628], [84872862, 84872989], [84879046, 84879152], [84881324, 84881437], [84883766, 84883907], [84884445, 84884673], [84884932, 84885066], [84894904, 84895166], [84896049, 84896341], [84903326, 84903408], [84904601, 84904793], [84910506, 84910623], [84911454, 84911485], [84913698, 84913814], [84922674, 84922742], [84924999, 84925183], [84925493, 84925640], [84930774, 84930889], [84936054, 84936170], [84937297, 84937353]] [[84834788, 84834995], [84836096, 84836231], [84856405, 84856504], [84859280, 84859422], [84862263, 84862898], [84865016, 84865229], [84870530, 84870635], [84871464, 84871628], [84872862, 84872989], [84879046, 84879152], [84881324, 84881437], [84883766, 84883907], [84884445, 84884673], [84884932, 84885066], [84894904, 84895166], [84896049, 84896341], [84903326, 84903408], [84904601, 84904793], [84910506, 84910623], [84911454, 84911485], [84913698, 84913814], [84922674, 84922742], [84924999, 84925183], [84925493, 84925640], [84930774, 84930889], [84936054, 84936111]]
NM_001286206 [[84833959, 84834995], [84836096, 84836231], [84856405, 84856504], [84859280, 84859422], [84862263, 84862898], [84865016, 84865229], [84870530, 84870635], [84871464, 84871628], [84872862, 84872989], [84879046, 84879152], [84881324, 84881437], [84883766, 84883907], [84884445, 84884673], [84884932, 84885066], [84894904, 84895166], [84896049, 84896341], [84903326, 84903408], [84904601, 84904793], [84910506, 84910623], [84911454, 84911485], [84913698, 84913814], [84922674, 84922742], [84924999, 84925183], [84925493, 84925640], [84927516, 84927578], [84930774, 84930889], [84937297, 84937353]] [[84834788, 84834995], [84836096, 84836231], [84856405, 84856504], [84859280, 84859422], [84862263, 84862898], [84865016, 84865229], [84870530, 84870635], [84871464, 84871628], [84872862, 84872989], [84879046, 84879152], [84881324, 84881437], [84883766, 84883907], [84884445, 84884673], [84884932, 84885066], [84894904, 84895166], [84896049, 84896341], [84903326, 84903408], [84904601, 84904793], [84910506, 84910623], [84911454, 84911485], [84913698, 84913814], [84922674, 84922742], [84924999, 84925183], [84925493, 84925584]]
Promoter
Chrom Start End Description
chr6 84937320 84937372 CAGE_peak_1_at_KIAA1009_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I083708 83708600 83709211 1.82 [{'connected_gene': 'SNAP91', 'score': 562.66}, {'connected_gene': 'CEP162', 'score': 22.58}, {'connected_gene': 'PRSS35', 'score': 0.08}]
chr6 GH06I084760 84760055 84767790 2.43 [{'connected_gene': 'TBX18', 'score': 550.77}, {'connected_gene': 'CEP162', 'score': 21.05}, {'connected_gene': 'SNX14', 'score': 9.97}, {'connected_gene': 'TBX18-AS1', 'score': 8.51}, {'connected_gene': 'GC06P084760', 'score': 0.77}, {'connected_gene': 'GC06P084744', 'score': 0.37}]
chr6 GH06I083429 83429601 83433526 2.26 [{'connected_gene': 'ME1', 'score': 558.89}, {'connected_gene': 'PRSS35', 'score': 18.07}, {'connected_gene': 'CEP162', 'score': 13.69}, {'connected_gene': 'ENSG00000219951', 'score': 0.28}]
chr6 GH06I083859 83859000 83861258 2.12 [{'connected_gene': 'CYB5R4', 'score': 550.77}, {'connected_gene': 'CEP162', 'score': 30.97}, {'connected_gene': 'RIPPLY2', 'score': 11.34}, {'connected_gene': 'PIR41363', 'score': 0.44}]
chr6 GH06I084361 84361463 84361689 0.92 [{'connected_gene': 'SMARCE1P2', 'score': 0.2}, {'connected_gene': 'CEP162', 'score': 0.12}]
chr6 GH06I084378 84378263 84378543 0.22 [{'connected_gene': 'SMARCE1P2', 'score': 0.23}, {'connected_gene': 'CEP162', 'score': 0.1}]
chr6 GH06I084791 84791069 84791988 0.77 [{'connected_gene': 'CEP162', 'score': 12.28}, {'connected_gene': 'TBX18', 'score': 11.87}, {'connected_gene': 'GC06P084744', 'score': 0.25}, {'connected_gene': 'GC06P084876', 'score': 0.17}]
chr6 GH06I083884 83884582 83884711 0.8 [{'connected_gene': 'CEP162', 'score': 11.81}, {'connected_gene': 'CYB5R4', 'score': 11.69}, {'connected_gene': 'RIPPLY2', 'score': 10.96}, {'connected_gene': 'GC06P083900', 'score': 0.37}, {'connected_gene': 'PIR41363', 'score': 0.37}]
chr6 GH06I084280 84280015 84281326 0.74 [{'connected_gene': 'CEP162', 'score': 0.23}, {'connected_gene': 'SMARCE1P2', 'score': 0.1}]
chr6 GH06I084258 84258201 84259829 0.4 [{'connected_gene': 'CEP162', 'score': 0.29}, {'connected_gene': 'SMARCE1P2', 'score': 0.09}]
chr6 GH06I084282 84282385 84283481 0.2 [{'connected_gene': 'CEP162', 'score': 0.22}, {'connected_gene': 'SMARCE1P2', 'score': 0.11}]
chr6 GH06I084269 84269763 84270862 1.02 [{'connected_gene': 'CEP162', 'score': 0.26}, {'connected_gene': 'SMARCE1P2', 'score': 0.1}]
chr6 GH06I084317 84317674 84318034 0.33 [{'connected_gene': 'CEP162', 'score': 0.17}, {'connected_gene': 'SMARCE1P2', 'score': 0.14}]
chr6 GH06I083866 83866793 83869051 1.52 [{'connected_gene': 'CEP162', 'score': 99.77}, {'connected_gene': 'DOPEY1', 'score': 90.74}, {'connected_gene': 'UBE3D', 'score': 43.02}, {'connected_gene': 'RWDD2A', 'score': 11.76}, {'connected_gene': 'RIPPLY2', 'score': 6.33}, {'connected_gene': 'CYB5R4', 'score': 6.23}, {'connected_gene': 'PIR41363', 'score': 0.77}, {'connected_gene': 'GC06P083900', 'score': 0.29}]
chr6 GH06I084017 84017740 84020322 0.54 [{'connected_gene': 'CEP162', 'score': 10.06}, {'connected_gene': 'RIPPLY2', 'score': 5.26}, {'connected_gene': 'MRAP2', 'score': 5.1}, {'connected_gene': 'ENSG00000230852', 'score': 0.77}, {'connected_gene': 'ENSG00000228679', 'score': 0.28}]
chr6 GH06I084226 84226601 84228600 2.05 [{'connected_gene': 'CEP162', 'score': 583.49}, {'connected_gene': 'RIPPLY2', 'score': 12.22}, {'connected_gene': 'GC06P084130', 'score': 0.15}]
chr6 GH06I084026 84026552 84028697 1.08 [{'connected_gene': 'CEP162', 'score': 22.32}, {'connected_gene': 'MRAP2', 'score': 6.44}, {'connected_gene': 'RIPPLY2', 'score': 4.62}, {'connected_gene': 'PIR38382', 'score': 0.34}]
chr6 GH06I084059 84059048 84060826 0.66 [{'connected_gene': 'CEP162', 'score': 22.45}, {'connected_gene': 'MRAP2', 'score': 17.63}, {'connected_gene': 'PIR38382', 'score': 0.44}, {'connected_gene': 'GC06P084130', 'score': 0.19}]
chr6 GH06I084192 84192785 84194075 0.6 [{'connected_gene': 'CEP162', 'score': 10.91}, {'connected_gene': 'MRAP2', 'score': 5.43}, {'connected_gene': 'GC06P084130', 'score': 0.21}]
chr6 GH06I084020 84020348 84021091 0.2 [{'connected_gene': 'CEP162', 'score': 10.06}, {'connected_gene': 'ENSG00000230852', 'score': 0.77}, {'connected_gene': 'ENSG00000228679', 'score': 0.28}]
chr6 GH06I084221 84221530 84221630 0.35 [{'connected_gene': 'CEP162', 'score': 0.44}, {'connected_gene': 'GC06P084130', 'score': 0.16}]
chr6 GH06I083463 83463449 83465721 1.09 [{'connected_gene': 'PRSS35', 'score': 26.52}, {'connected_gene': 'CEP162', 'score': 12.28}, {'connected_gene': 'ME1', 'score': 4.97}, {'connected_gene': 'CYB5R4', 'score': 4.9}]
chr6 GH06I083853 83853001 83854349 1.6 [{'connected_gene': 'RIPPLY2', 'score': 577.94}, {'connected_gene': 'GC06M083852', 'score': 550.77}, {'connected_gene': 'CEP162', 'score': 51.57}, {'connected_gene': 'DOPEY1', 'score': 9.69}]
chr6 GH06I084207 84207916 84208040 0.44 [{'connected_gene': 'RIPPLY2', 'score': 10.17}, {'connected_gene': 'CEP162', 'score': 0.37}, {'connected_gene': 'GC06P084130', 'score': 0.18}]
chr6 GH06I084051 84051207 84053673 1.62 [{'connected_gene': 'MRAP2', 'score': 23.2}, {'connected_gene': 'CEP162', 'score': 20.83}, {'connected_gene': 'RIPPLY2', 'score': 4.26}, {'connected_gene': 'PIR38382', 'score': 0.77}, {'connected_gene': 'GC06P084130', 'score': 0.18}]
chr6 GH06I084033 84033398 84034601 2.02 [{'connected_gene': 'MRAP2', 'score': 557.05}, {'connected_gene': 'CEP162', 'score': 13.75}, {'connected_gene': 'PIR38382', 'score': 0.37}]
chr6 GH06I084588 84588401 84588800 0.52 [{'connected_gene': 'TBX18-AS1', 'score': 7.06}, {'connected_gene': 'CEP162', 'score': 4.03}, {'connected_gene': 'PIR42173', 'score': 0.31}, {'connected_gene': 'GC06M084682', 'score': 0.16}, {'connected_gene': 'PIR35172', 'score': 0.16}]
chr6 GH06I084617 84617254 84619519 1.16 [{'connected_gene': 'TBX18-AS1', 'score': 17.54}, {'connected_gene': 'CEP162', 'score': 12.15}, {'connected_gene': 'ENSG00000219604', 'score': 10.67}, {'connected_gene': 'PIR42173', 'score': 0.22}, {'connected_gene': 'GC06M084682', 'score': 0.21}, {'connected_gene': 'PIR35172', 'score': 0.21}]
chr6 GH06I084136 84136836 84137339 0.8 [{'connected_gene': 'GC06P084130', 'score': 0.44}, {'connected_gene': 'CEP162', 'score': 0.16}, {'connected_gene': 'MRAP2', 'score': 0.14}]
chr6 GH06I084150 84150802 84150951 0.49 [{'connected_gene': 'GC06P084130', 'score': 0.34}, {'connected_gene': 'CEP162', 'score': 0.18}]