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
ENST00000502492 [[47006677, 47007974], [47009004, 47009079], [47010566, 47010708], [47013531, 47013604], [47014381, 47014486], [47018285, 47018424], [47021286, 47021337], [47022042, 47022479]] [[47007836, 47007974], [47009004, 47009079], [47010566, 47010708], [47013531, 47013604], [47014381, 47014486], [47018285, 47018424], [47021286, 47021337], [47022042, 47022096]]
ENST00000509995 [[47007732, 47007974], [47009004, 47009079], [47018285, 47018424], [47021286, 47021337], [47022042, 47022095]] [[47009077, 47009079], [47018285, 47018424], [47021286, 47021337], [47022042, 47022095]]
ENST00000510558 [[47007732, 47007974], [47009004, 47009079], [47010566, 47010708], [47011840, 47011938], [47013531, 47013604], [47014381, 47014486], [47018285, 47018424], [47021286, 47021337], [47022042, 47022168]] [[47011856, 47011938], [47013531, 47013604], [47014381, 47014486], [47018285, 47018424], [47021286, 47021337], [47022042, 47022096]]
ENST00000290330 [[47007735, 47007974], [47009004, 47009076], [47010566, 47010708], [47013531, 47013604], [47014381, 47014486], [47018285, 47018424], [47021286, 47021337], [47022042, 47022172]] [[47007836, 47007974], [47009004, 47009076], [47010566, 47010708], [47013531, 47013604], [47014381, 47014486], [47018285, 47018424], [47021286, 47021337], [47022042, 47022096]]
ENST00000514089 [[47007742, 47007974], [47009004, 47009079], [47010566, 47010708], [47013492, 47013604], [47014470, 47014480]] None
ENST00000515572 [[47007749, 47007974], [47009004, 47009079], [47010566, 47010953]] None
ENST00000504000 [[47007751, 47007974], [47009004, 47010680]] None
ENST00000509989 [[47007787, 47007974], [47009004, 47009079], [47010566, 47010708], [47013531, 47013604], [47014216, 47014416]] [[47014367, 47014416]]
ENST00000573795 [[47007790, 47007974], [47009004, 47009079], [47010566, 47010708], [47021286, 47021337], [47022042, 47022173]] [[47010702, 47010708], [47021286, 47021337], [47022042, 47022096]]
ENST00000576353 [[47007865, 47007974], [47009004, 47009079], [47010566, 47010708], [47013531, 47013604], [47014381, 47014486], [47021286, 47021337], [47022042, 47022187]] [[47014429, 47014486], [47021286, 47021337], [47022042, 47022096]]
ENST00000507302 [[47009004, 47009079], [47010566, 47010708], [47013531, 47013604], [47014216, 47014295], [47014381, 47014486], [47014642, 47014653], [47018285, 47018424], [47021286, 47021337], [47022042, 47022109]] [[47014429, 47014486], [47014642, 47014653], [47018285, 47018424], [47021286, 47021337], [47022042, 47022096]]
ENST00000514929 [[47009004, 47009079], [47010566, 47010708], [47013492, 47013604], [47014381, 47014486], [47018285, 47018424], [47021286, 47021337], [47022042, 47022193]] [[47013527, 47013604], [47014381, 47014486], [47018285, 47018424], [47021286, 47021337], [47022042, 47022096]]
ENST00000512243 [[47013064, 47013604], [47014381, 47014486], [47018285, 47018424], [47021286, 47021337], [47022042, 47022070]] None
ENST00000511214 [[47013395, 47013604], [47014381, 47014601]] None
ENST00000506104 [[47013402, 47013604], [47014216, 47014469]] None
ENST00000515174 [[47014017, 47014486], [47018285, 47018424], [47021286, 47021501]] None
ENST00000510195 [[47014357, 47014486], [47018285, 47018424], [47021286, 47021337], [47022042, 47022168]] None
NM_001317194 [[47007457, 47007974], [47009004, 47009079], [47010566, 47010708], [47013531, 47013604], [47014216, 47014295], [47014381, 47014486], [47014642, 47014653], [47018285, 47018424], [47021286, 47021337], [47022042, 47022204]] [[47007836, 47007974], [47009004, 47009079], [47010566, 47010708], [47013531, 47013604], [47014216, 47014253]]
NR_133679 [[47007457, 47007974], [47009004, 47009079], [47010566, 47010708], [47013492, 47013604], [47014381, 47014486], [47018285, 47018424], [47021286, 47021337], [47022042, 47022204]] None
NM_007241 [[47007457, 47007974], [47009004, 47009079], [47010566, 47010708], [47013531, 47013604], [47014381, 47014486], [47018285, 47018424], [47021286, 47021337], [47022042, 47022204]] [[47007836, 47007974], [47009004, 47009079], [47010566, 47010708], [47013531, 47013604], [47014381, 47014486], [47018285, 47018424], [47021286, 47021337], [47022042, 47022096]]
NM_001317192 [[47007457, 47007974], [47009004, 47009076], [47010566, 47010708], [47013531, 47013604], [47014381, 47014486], [47018285, 47018424], [47021286, 47021337], [47022042, 47022204]] [[47007836, 47007974], [47009004, 47009076], [47010566, 47010708], [47013531, 47013604], [47014381, 47014486], [47018285, 47018424], [47021286, 47021337], [47022042, 47022096]]
NM_001317193 [[47007457, 47007974], [47009004, 47009079], [47010566, 47010708], [47013531, 47013604], [47014381, 47014486], [47018285, 47018424], [47022042, 47022204]] [[47007836, 47007974], [47009004, 47009079], [47010566, 47010708], [47013531, 47013604], [47014381, 47014486], [47018285, 47018424], [47022042, 47022096]]
Promoter
Chrom Start End Description
chr17 47021326 47021373 CAGE_peak_5_at_SNF8_5end
chr17 47022140 47022210 CAGE_peak_1_at_SNF8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I049758 49758761 49765137 2.68 [{'connected_gene': 'FAM117A', 'score': 572.26}, {'connected_gene': 'ENSG00000262837', 'score': 80.47}, {'connected_gene': 'UBE2Z', 'score': 71.41}, {'connected_gene': 'LUC7L3', 'score': 61.29}, {'connected_gene': 'FLJ45513', 'score': 21.53}, {'connected_gene': 'SPOP', 'score': 20.9}, {'connected_gene': 'COL1A1', 'score': 19.49}, {'connected_gene': 'TAC4', 'score': 18.71}, {'connected_gene': 'SLC35B1', 'score': 12.29}, {'connected_gene': 'ITGA3', 'score': 12.17}, {'connected_gene': 'ENSG00000230532', 'score': 11.84}, {'connected_gene': 'CACNA1G-AS1', 'score': 10.42}, {'connected_gene': 'SNF8', 'score': 10.13}, {'connected_gene': 'KAT7', 'score': 10.12}, {'connected_gene': 'PICART1', 'score': 9.77}, {'connected_gene': 'GC17P049768', 'score': 0.44}]
chr17 GH17I049190 49190723 49194755 1.71 [{'connected_gene': 'TRQ-TTG1-1', 'score': 550.77}, {'connected_gene': 'ENSG00000262837', 'score': 155.62}, {'connected_gene': 'UBE2Z', 'score': 119.93}, {'connected_gene': 'FAM117A', 'score': 62.8}, {'connected_gene': 'FLJ45513', 'score': 52.73}, {'connected_gene': 'ENSG00000230532', 'score': 44.34}, {'connected_gene': 'KAT7', 'score': 30.69}, {'connected_gene': 'TAC4', 'score': 27.97}, {'connected_gene': 'PICART1', 'score': 27.03}, {'connected_gene': 'CALCOCO2', 'score': 25.22}, {'connected_gene': 'NXPH3', 'score': 18.13}, {'connected_gene': 'B4GALNT2', 'score': 15.14}, {'connected_gene': 'PHOSPHO1', 'score': 12.63}, {'connected_gene': 'SUMO2P17', 'score': 11.94}, {'connected_gene': 'HOXB4', 'score': 10.57}, {'connected_gene': 'SPOP', 'score': 10.47}, {'connected_gene': 'HOXB6', 'score': 10.18}, {'connected_gene': 'SNF8', 'score': 10.17}, {'connected_gene': 'ENSG00000250751', 'score': 10.16}, {'connected_gene': 'LOC101927166', 'score': 9.82}, {'connected_gene': 'SAMD14', 'score': 9.71}, {'connected_gene': 'ABI3', 'score': 5.26}, {'connected_gene': 'GNGT2', 'score': 3.59}, {'connected_gene': 'ZNF652', 'score': 1.8}]
chr17 GH17I048970 48970470 48974154 1.54 [{'connected_gene': 'UBE2Z', 'score': 12.67}, {'connected_gene': 'ENSG00000262837', 'score': 11.75}, {'connected_gene': 'TTLL6', 'score': 5.29}, {'connected_gene': 'PHOSPHO1', 'score': 4.53}, {'connected_gene': 'IGF2BP1', 'score': 1.85}, {'connected_gene': 'SNF8', 'score': 1.58}, {'connected_gene': 'GIP', 'score': 0.77}]
chr17 GH17I048917 48917292 48917949 0.31 [{'connected_gene': 'UBE2Z', 'score': 18.03}, {'connected_gene': 'SNF8', 'score': 12.49}, {'connected_gene': 'RNU1-42P', 'score': 12.47}, {'connected_gene': 'ENSG00000238804', 'score': 11.8}, {'connected_gene': 'ATP5MC1', 'score': 11.16}, {'connected_gene': 'PRAC2', 'score': 9.69}, {'connected_gene': 'PRAC1', 'score': 9.69}, {'connected_gene': 'GC17P048930', 'score': 0.44}, {'connected_gene': 'SUMO2P17', 'score': 0.44}, {'connected_gene': 'PIR52488', 'score': 0.44}]
chr17 GH17I048914 48914023 48917027 1.15 [{'connected_gene': 'UBE2Z', 'score': 18.3}, {'connected_gene': 'SNF8', 'score': 12.51}, {'connected_gene': 'RNU1-42P', 'score': 12.49}, {'connected_gene': 'ENSG00000238804', 'score': 11.78}, {'connected_gene': 'ATP5MC1', 'score': 11.43}, {'connected_gene': 'TTLL6', 'score': 9.85}, {'connected_gene': 'PRAC2', 'score': 9.69}, {'connected_gene': 'PRAC1', 'score': 9.69}, {'connected_gene': 'NFE2L1', 'score': 5.23}, {'connected_gene': 'SUMO2P17', 'score': 0.44}, {'connected_gene': 'GC17P048930', 'score': 0.39}, {'connected_gene': 'PIR52488', 'score': 0.39}]
chr17 GH17I048906 48906607 48911013 2.31 [{'connected_gene': 'UBE2Z', 'score': 590.9}, {'connected_gene': 'SUMO2P17', 'score': 550.77}, {'connected_gene': 'ENSG00000262837', 'score': 19.89}, {'connected_gene': 'ENSG00000266601', 'score': 19.02}, {'connected_gene': 'ATP5MC1', 'score': 17.66}, {'connected_gene': 'CALCOCO2', 'score': 15.77}, {'connected_gene': 'FAM117A', 'score': 11.47}, {'connected_gene': 'ENSG00000264701', 'score': 11.21}, {'connected_gene': 'ENSG00000230532', 'score': 11.03}, {'connected_gene': 'SNF8', 'score': 10.97}, {'connected_gene': 'RNU1-42P', 'score': 10.95}, {'connected_gene': 'HOXB4', 'score': 10.59}, {'connected_gene': 'HOXB6', 'score': 10.2}, {'connected_gene': 'FLJ45513', 'score': 10.14}, {'connected_gene': 'NFE2L1', 'score': 3.94}]
chr17 GH17I048799 48799093 48802730 0.82 [{'connected_gene': 'ATP5MC1', 'score': 27.19}, {'connected_gene': 'TTLL6', 'score': 15.05}, {'connected_gene': 'PRAC1', 'score': 11.45}, {'connected_gene': 'PRAC2', 'score': 11.45}, {'connected_gene': 'LOC105371811', 'score': 11.35}, {'connected_gene': 'HOXB13', 'score': 11.34}, {'connected_gene': 'ENSG00000238804', 'score': 10.49}, {'connected_gene': 'ENSG00000230532', 'score': 10.26}, {'connected_gene': 'RNU1-42P', 'score': 10.25}, {'connected_gene': 'SNF8', 'score': 10.25}, {'connected_gene': 'MIR196A1', 'score': 9.94}, {'connected_gene': 'CALCOCO2', 'score': 9.72}, {'connected_gene': 'LOC105371813', 'score': 0.39}, {'connected_gene': 'RN7SL125P', 'score': 0.28}]
chr17 GH17I049068 49068136 49069795 0.91 [{'connected_gene': 'ATP5MC1', 'score': 6.22}, {'connected_gene': 'SNF8', 'score': 4.95}, {'connected_gene': 'B4GALNT2P1', 'score': 0.37}, {'connected_gene': 'GC17P049052', 'score': 0.37}]
chr17 GH17I048808 48808409 48809889 0.57 [{'connected_gene': 'ATP5MC1', 'score': 19.11}, {'connected_gene': 'CALCOCO2', 'score': 11.62}, {'connected_gene': 'PRAC2', 'score': 10.95}, {'connected_gene': 'PRAC1', 'score': 10.95}, {'connected_gene': 'ENSG00000230532', 'score': 10.05}, {'connected_gene': 'SNF8', 'score': 10.04}, {'connected_gene': 'RNU1-42P', 'score': 10.03}, {'connected_gene': 'LOC105371813', 'score': 0.77}, {'connected_gene': 'TTLL6', 'score': 0.44}, {'connected_gene': 'RN7SL125P', 'score': 0.26}]
chr17 GH17I048789 48789114 48789126 0.22 [{'connected_gene': 'PRAC2', 'score': 11.51}, {'connected_gene': 'PRAC1', 'score': 11.51}, {'connected_gene': 'HOXB13', 'score': 11.34}, {'connected_gene': 'LOC105371811', 'score': 11.34}, {'connected_gene': 'ATP5MC1', 'score': 11.0}, {'connected_gene': 'TTLL6', 'score': 10.7}, {'connected_gene': 'ENSG00000230532', 'score': 9.94}, {'connected_gene': 'SNF8', 'score': 9.93}, {'connected_gene': 'RNU1-42P', 'score': 9.92}, {'connected_gene': 'ENSG00000238804', 'score': 9.84}, {'connected_gene': 'HOXB9', 'score': 9.66}, {'connected_gene': 'HOXB-AS4', 'score': 9.66}, {'connected_gene': 'SKAP1', 'score': 8.77}, {'connected_gene': 'RN7SL125P', 'score': 0.34}, {'connected_gene': 'LOC105371813', 'score': 0.34}]
chr17 GH17I048623 48623432 48629868 2 [{'connected_gene': 'HOXB9', 'score': 560.38}, {'connected_gene': 'ENSG00000264701', 'score': 12.73}, {'connected_gene': 'ENSG00000230532', 'score': 11.87}, {'connected_gene': 'CDK5RAP3', 'score': 11.03}, {'connected_gene': 'PRAC2', 'score': 9.56}, {'connected_gene': 'PRAC1', 'score': 9.56}, {'connected_gene': 'HOXB13', 'score': 9.52}, {'connected_gene': 'LOC105371811', 'score': 9.51}, {'connected_gene': 'HOXB2', 'score': 8.9}, {'connected_gene': 'HOXB8', 'score': 4.92}, {'connected_gene': 'HOXB5', 'score': 2.52}, {'connected_gene': 'HOXB6', 'score': 2.51}, {'connected_gene': 'HOXB7', 'score': 2.2}, {'connected_gene': 'HOXB3', 'score': 1.57}, {'connected_gene': 'SNF8', 'score': 1.23}, {'connected_gene': 'PIR60728', 'score': 0.77}, {'connected_gene': 'HOXB-AS4', 'score': 0.77}]
chr17 GH17I048783 48783881 48784123 0.22 [{'connected_gene': 'TTLL6', 'score': 39.61}, {'connected_gene': 'PRAC1', 'score': 12.89}, {'connected_gene': 'PRAC2', 'score': 11.51}, {'connected_gene': 'HOXB13', 'score': 11.35}, {'connected_gene': 'LOC105371811', 'score': 11.35}, {'connected_gene': 'ATP5MC1', 'score': 10.99}, {'connected_gene': 'ENSG00000230532', 'score': 9.94}, {'connected_gene': 'RNU1-42P', 'score': 9.93}, {'connected_gene': 'SNF8', 'score': 9.92}, {'connected_gene': 'ENSG00000238804', 'score': 9.83}, {'connected_gene': 'HOXB9', 'score': 9.67}, {'connected_gene': 'HOXB-AS4', 'score': 9.67}, {'connected_gene': 'SKAP1', 'score': 8.77}, {'connected_gene': 'RN7SL125P', 'score': 0.37}, {'connected_gene': 'LOC105371813', 'score': 0.31}]
chr17 GH17I049387 49387342 49391888 1.63 [{'connected_gene': 'ZNF652', 'score': 21.0}, {'connected_gene': 'SPOP', 'score': 13.09}, {'connected_gene': 'LOC102724596', 'score': 12.23}, {'connected_gene': 'ENSG00000207127', 'score': 11.99}, {'connected_gene': 'PHB', 'score': 11.99}, {'connected_gene': 'ABI3', 'score': 10.89}, {'connected_gene': 'SNF8', 'score': 10.15}, {'connected_gene': 'PHOSPHO1', 'score': 10.12}, {'connected_gene': 'UBE2Z', 'score': 9.67}, {'connected_gene': 'GNGT2', 'score': 9.33}, {'connected_gene': 'KAT7', 'score': 5.66}, {'connected_gene': 'FAM117A', 'score': 3.84}, {'connected_gene': 'RPL21P124', 'score': 0.39}, {'connected_gene': 'ENSG00000250948', 'score': 0.39}, {'connected_gene': 'ENSG00000262039', 'score': 0.37}]
chr17 GH17I049020 49020215 49023774 1.44 [{'connected_gene': 'SNF8', 'score': 16.66}, {'connected_gene': 'PRAC1', 'score': 11.79}, {'connected_gene': 'RNU1-42P', 'score': 11.38}, {'connected_gene': 'ENSG00000230532', 'score': 11.35}, {'connected_gene': 'ENSG00000238804', 'score': 11.12}, {'connected_gene': 'PRAC2', 'score': 9.99}, {'connected_gene': 'HOXB-AS4', 'score': 8.94}, {'connected_gene': 'HOXB9', 'score': 8.94}, {'connected_gene': 'IGF2BP1', 'score': 2.28}, {'connected_gene': 'ENSG00000255851', 'score': 0.77}, {'connected_gene': 'GC17P049038', 'score': 0.39}]
chr17 GH17I048943 48943482 48945590 2.07 [{'connected_gene': 'SNF8', 'score': 560.88}, {'connected_gene': 'GC17P048947', 'score': 550.77}, {'connected_gene': 'UBE2Z', 'score': 25.65}, {'connected_gene': 'ATP5MC1', 'score': 15.94}, {'connected_gene': 'SPOP', 'score': 10.45}, {'connected_gene': 'NXPH3', 'score': 9.76}, {'connected_gene': 'ENSG00000263412', 'score': 9.67}, {'connected_gene': 'CALCOCO2', 'score': 5.5}, {'connected_gene': 'ENSG00000230532', 'score': 0.39}]
chr17 GH17I048992 48992116 48993109 0.49 [{'connected_gene': 'SNF8', 'score': 5.68}, {'connected_gene': 'IGF2BP1', 'score': 0.77}, {'connected_gene': 'GIP', 'score': 0.34}]
chr17 GH17I049025 49025970 49027326 0.57 [{'connected_gene': 'RNU1-42P', 'score': 11.37}, {'connected_gene': 'SNF8', 'score': 11.37}, {'connected_gene': 'ENSG00000230532', 'score': 11.35}, {'connected_gene': 'ENSG00000238804', 'score': 11.12}, {'connected_gene': 'PRAC2', 'score': 9.99}, {'connected_gene': 'PRAC1', 'score': 9.99}, {'connected_gene': 'HOXB-AS4', 'score': 8.94}, {'connected_gene': 'HOXB9', 'score': 8.94}, {'connected_gene': 'ATP5MC1', 'score': 7.3}, {'connected_gene': 'GC17P049038', 'score': 0.44}, {'connected_gene': 'ENSG00000255851', 'score': 0.44}, {'connected_gene': 'IGF2BP1', 'score': 0.31}]
chr17 GH17I048897 48897492 48898744 0.66 [{'connected_gene': 'LOC100419622', 'score': 550.77}, {'connected_gene': 'UBE2Z', 'score': 18.14}, {'connected_gene': 'ENSG00000238804', 'score': 10.82}, {'connected_gene': 'ENSG00000230532', 'score': 10.73}, {'connected_gene': 'SNF8', 'score': 10.69}, {'connected_gene': 'RNU1-42P', 'score': 10.67}, {'connected_gene': 'TTLL6', 'score': 10.64}, {'connected_gene': 'PRAC2', 'score': 10.27}, {'connected_gene': 'PRAC1', 'score': 10.27}, {'connected_gene': 'HOXB13', 'score': 9.77}, {'connected_gene': 'LOC105371811', 'score': 9.68}, {'connected_gene': 'NFE2L1', 'score': 4.16}, {'connected_gene': 'ATP5MC1', 'score': 0.44}, {'connected_gene': 'SUMO2P17', 'score': 0.39}]
chr17 GH17I048930 48930417 48931456 0.57 [{'connected_gene': 'ENSG00000230532', 'score': 550.77}, {'connected_gene': 'GC17P048932', 'score': 550.77}, {'connected_gene': 'UBE2Z', 'score': 17.94}, {'connected_gene': 'ATP5MC1', 'score': 17.57}, {'connected_gene': 'PIR52488', 'score': 0.77}, {'connected_gene': 'GC17P048930', 'score': 0.77}, {'connected_gene': 'SNF8', 'score': 0.39}]
chr17 GH17I049011 49011532 49017474 1.8 [{'connected_gene': 'ENSG00000251461', 'score': 550.77}, {'connected_gene': 'ENSG00000238804', 'score': 11.48}, {'connected_gene': 'PRAC2', 'score': 10.14}, {'connected_gene': 'PRAC1', 'score': 10.14}, {'connected_gene': 'HOXB9', 'score': 8.77}, {'connected_gene': 'HOXB-AS4', 'score': 8.77}, {'connected_gene': 'IGF2BP1', 'score': 7.86}, {'connected_gene': 'ATP5MC1', 'score': 6.26}, {'connected_gene': 'UBE2Z', 'score': 5.95}, {'connected_gene': 'SNF8', 'score': 4.81}, {'connected_gene': 'ENSG00000255851', 'score': 0.77}]
chr17 GH17I048936 48936459 48936608 0.31 [{'connected_gene': 'ENSG00000230532', 'score': 0.77}, {'connected_gene': 'GC17P048947', 'score': 0.44}, {'connected_gene': 'SNF8', 'score': 0.44}]
chr17 GH17I048940 48940070 48940104 0.34 [{'connected_gene': 'GC17P048947', 'score': 0.77}, {'connected_gene': 'ENSG00000230532', 'score': 0.44}, {'connected_gene': 'SNF8', 'score': 0.44}]

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