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
ENST00000265070 [[32124809, 32126742], [32135677, 32135792], [32143854, 32143986], [32173915, 32174456]] [[32126317, 32126742], [32135677, 32135792], [32143854, 32143986], [32173915, 32174140]]
ENST00000503610 [[32126472, 32126742], [32135677, 32135792], [32143854, 32143986], [32173851, 32174408]] [[32173858, 32174140]]
ENST00000512668 [[32126700, 32126742], [32135677, 32135792], [32173915, 32174423]] None
NM_022130 [[32124823, 32126742], [32135677, 32135792], [32143854, 32143986], [32173915, 32174425]] [[32126317, 32126742], [32135677, 32135792], [32143854, 32143986], [32173915, 32174140]]
Promoter
Chrom Start End Description
chr5 32174283 32174295 CAGE_peak_3_at_GOLPH3_5end
chr5 32174338 32174367 CAGE_peak_2_at_GOLPH3_5end
chr5 32174369 32174458 CAGE_peak_1_at_GOLPH3_5end
chr5 32174797 32174803 CAGE_peak_17_at_GOLPH3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I032209 32209990 32211700 1.05 [{'connected_gene': 'GOLPH3', 'score': 13.33}, {'connected_gene': 'MIR579', 'score': 11.0}, {'connected_gene': 'ZFR', 'score': 10.98}, {'connected_gene': 'MTMR12', 'score': 6.18}, {'connected_gene': 'RPL27P10', 'score': 5.07}, {'connected_gene': 'GC05P032207', 'score': 0.77}, {'connected_gene': 'PIR52245', 'score': 0.44}, {'connected_gene': 'GC05M032181', 'score': 0.21}]
chr5 GH05I032253 32253634 32254009 0.2 [{'connected_gene': 'GOLPH3', 'score': 10.95}, {'connected_gene': 'MIR579', 'score': 10.65}, {'connected_gene': 'ZFR', 'score': 10.63}, {'connected_gene': 'MTMR12', 'score': 9.23}, {'connected_gene': 'GC05P032258', 'score': 0.77}, {'connected_gene': 'PIR44669', 'score': 0.39}, {'connected_gene': 'GC05M032181', 'score': 0.37}]
chr5 GH05I032251 32251165 32251994 0.38 [{'connected_gene': 'GOLPH3', 'score': 10.95}, {'connected_gene': 'MIR579', 'score': 10.65}, {'connected_gene': 'ZFR', 'score': 10.63}, {'connected_gene': 'MTMR12', 'score': 9.26}, {'connected_gene': 'GC05P032258', 'score': 0.44}, {'connected_gene': 'PIR44669', 'score': 0.39}, {'connected_gene': 'GC05M032181', 'score': 0.34}]
chr5 GH05I032297 32297714 32298602 1.19 [{'connected_gene': 'GOLPH3', 'score': 10.94}, {'connected_gene': 'MIR579', 'score': 10.85}, {'connected_gene': 'ZFR', 'score': 10.81}, {'connected_gene': 'MTMR12', 'score': 7.7}, {'connected_gene': 'GC05P032310', 'score': 0.39}, {'connected_gene': 'GC05M032181', 'score': 0.31}]
chr5 GH05I032240 32240322 32243103 0.42 [{'connected_gene': 'GOLPH3', 'score': 11.36}, {'connected_gene': 'MIR579', 'score': 10.96}, {'connected_gene': 'ZFR', 'score': 10.93}, {'connected_gene': 'MTMR12', 'score': 7.33}, {'connected_gene': 'PIR44669', 'score': 0.77}, {'connected_gene': 'GC05P032258', 'score': 0.37}, {'connected_gene': 'GC05M032181', 'score': 0.29}]
chr5 GH05I032254 32254938 32256047 0.4 [{'connected_gene': 'GOLPH3', 'score': 10.94}, {'connected_gene': 'MIR579', 'score': 10.66}, {'connected_gene': 'ZFR', 'score': 10.63}, {'connected_gene': 'GC05P032258', 'score': 0.77}, {'connected_gene': 'GC05M032181', 'score': 0.37}, {'connected_gene': 'PIR44669', 'score': 0.37}, {'connected_gene': 'MTMR12', 'score': 0.22}]
chr5 GH05I032304 32304555 32305079 0.43 [{'connected_gene': 'GOLPH3', 'score': 11.01}, {'connected_gene': 'MIR579', 'score': 10.65}, {'connected_gene': 'ZFR', 'score': 10.6}, {'connected_gene': 'GC05P032310', 'score': 0.77}, {'connected_gene': 'MTMR12', 'score': 0.44}, {'connected_gene': 'GC05M032181', 'score': 0.29}]
chr5 GH05I032249 32249176 32250702 0.89 [{'connected_gene': 'GOLPH3', 'score': 10.95}, {'connected_gene': 'MIR579', 'score': 10.84}, {'connected_gene': 'ZFR', 'score': 10.82}, {'connected_gene': 'GC05P032258', 'score': 0.44}, {'connected_gene': 'PIR44669', 'score': 0.39}, {'connected_gene': 'GC05M032181', 'score': 0.34}, {'connected_gene': 'MTMR12', 'score': 0.21}]
chr5 GH05I032302 32302432 32303802 0.83 [{'connected_gene': 'GOLPH3', 'score': 10.94}, {'connected_gene': 'MIR579', 'score': 10.65}, {'connected_gene': 'ZFR', 'score': 10.6}, {'connected_gene': 'DROSHA', 'score': 9.77}, {'connected_gene': 'MTMR12', 'score': 6.07}, {'connected_gene': 'GC05P032310', 'score': 0.44}, {'connected_gene': 'GC05M032181', 'score': 0.29}]
chr5 GH05I032223 32223344 32226204 0.99 [{'connected_gene': 'GOLPH3', 'score': 12.61}, {'connected_gene': 'MTMR12', 'score': 9.7}, {'connected_gene': 'GC05P032221', 'score': 0.77}, {'connected_gene': 'RNU6-1079P', 'score': 0.39}, {'connected_gene': 'GC05M032236', 'score': 0.39}, {'connected_gene': 'GC05M032181', 'score': 0.25}]
chr5 GH05I032299 32299355 32299504 0.83 [{'connected_gene': 'GOLPH3', 'score': 10.94}, {'connected_gene': 'MTMR12', 'score': 0.39}, {'connected_gene': 'GC05P032310', 'score': 0.39}, {'connected_gene': 'GC05M032181', 'score': 0.31}]
chr5 GH05I032319 32319034 32319812 0.49 [{'connected_gene': 'GOLPH3', 'score': 11.17}, {'connected_gene': 'MTMR12', 'score': 5.0}, {'connected_gene': 'GC05P032360', 'score': 0.26}]
chr5 GH05I032128 32128691 32131470 0.43 [{'connected_gene': 'GOLPH3', 'score': 10.63}, {'connected_gene': 'GC05P032135', 'score': 0.77}, {'connected_gene': 'ENSG00000250764', 'score': 0.44}]
chr5 GH05I032146 32146001 32146200 0.4 [{'connected_gene': 'GOLPH3', 'score': 11.29}, {'connected_gene': 'GC05P032142', 'score': 0.77}, {'connected_gene': 'GC05P032175', 'score': 0.31}]
chr5 GH05I032324 32324640 32325600 0.46 [{'connected_gene': 'MTMR12', 'score': 22.35}, {'connected_gene': 'MIR579', 'score': 10.93}, {'connected_gene': 'GOLPH3', 'score': 10.91}, {'connected_gene': 'ZFR', 'score': 10.85}, {'connected_gene': 'LOC646616', 'score': 10.0}, {'connected_gene': 'SUB1', 'score': 10.0}, {'connected_gene': 'GC05P032360', 'score': 0.28}]
chr5 GH05I032329 32329311 32332495 1.32 [{'connected_gene': 'MTMR12', 'score': 26.7}, {'connected_gene': 'MIR579', 'score': 11.21}, {'connected_gene': 'ZFR', 'score': 11.14}, {'connected_gene': 'GOLPH3', 'score': 10.91}, {'connected_gene': 'LOC646616', 'score': 10.0}, {'connected_gene': 'SUB1', 'score': 10.0}, {'connected_gene': 'GC05P032360', 'score': 0.31}]
chr5 GH05I032279 32279928 32281638 0.96 [{'connected_gene': 'MTMR12', 'score': 12.5}, {'connected_gene': 'GOLPH3', 'score': 10.6}, {'connected_gene': 'GC05M032181', 'score': 0.44}, {'connected_gene': 'GC05P032310', 'score': 0.31}]
chr5 GH05I032153 32153169 32155050 0.67 [{'connected_gene': 'MTMR12', 'score': 5.8}, {'connected_gene': 'RPL27P10', 'score': 5.61}, {'connected_gene': 'GC05P032142', 'score': 0.39}, {'connected_gene': 'GC05P032175', 'score': 0.37}, {'connected_gene': 'GOLPH3', 'score': 0.34}]
chr5 GH05I032164 32164036 32164242 0.6 [{'connected_gene': 'ZFR', 'score': 1.21}, {'connected_gene': 'GC05P032175', 'score': 0.44}, {'connected_gene': 'GOLPH3', 'score': 0.39}, {'connected_gene': 'GC05P032142', 'score': 0.34}]
chr5 GH05I032272 32272852 32279200 1.5 [{'connected_gene': 'DROSHA', 'score': 13.42}, {'connected_gene': 'GOLPH3', 'score': 10.6}, {'connected_gene': 'MTMR12', 'score': 9.16}, {'connected_gene': 'RPL27P10', 'score': 6.01}, {'connected_gene': 'GC05M032181', 'score': 0.77}, {'connected_gene': 'GC05P032310', 'score': 0.29}]
chr5 GH05I031361 31361056 31367567 0.99 [{'connected_gene': 'DROSHA', 'score': 60.27}, {'connected_gene': 'MTMR12', 'score': 51.25}, {'connected_gene': 'GOLPH3', 'score': 18.12}, {'connected_gene': 'ENSG00000254138', 'score': 0.15}, {'connected_gene': 'GC05P031506', 'score': 0.11}]
chr5 GH05I032168 32168902 32169865 0.38 [{'connected_gene': 'RPL27P10', 'score': 11.69}, {'connected_gene': 'GOLPH3', 'score': 0.77}, {'connected_gene': 'GC05P032175', 'score': 0.77}, {'connected_gene': 'GC05P032142', 'score': 0.31}]
chr5 GH05I032165 32165233 32166616 0.57 [{'connected_gene': 'RPL27P10', 'score': 8.08}, {'connected_gene': 'MTMR12', 'score': 5.55}, {'connected_gene': 'GOLPH3', 'score': 0.44}, {'connected_gene': 'GC05P032175', 'score': 0.44}, {'connected_gene': 'GC05P032142', 'score': 0.34}]
chr5 GH05I032230 32230246 32235581 1.37 [{'connected_gene': 'RNU6-1079P', 'score': 550.77}, {'connected_gene': 'GC05M032236', 'score': 550.77}, {'connected_gene': 'GOLPH3', 'score': 12.46}, {'connected_gene': 'MIR579', 'score': 11.2}, {'connected_gene': 'ZFR', 'score': 11.18}, {'connected_gene': 'MTMR12', 'score': 9.71}, {'connected_gene': 'PIR37174', 'score': 0.77}, {'connected_gene': 'GC05P032221', 'score': 0.39}, {'connected_gene': 'GC05M032181', 'score': 0.28}]
chr5 GH05I032207 32207001 32207601 0.46 [{'connected_gene': 'GC05P032208', 'score': 550.77}, {'connected_gene': 'GC05P032207', 'score': 550.77}, {'connected_gene': 'GOLPH3', 'score': 13.34}, {'connected_gene': 'MIR579', 'score': 11.0}, {'connected_gene': 'ZFR', 'score': 10.98}, {'connected_gene': 'MTMR12', 'score': 6.75}, {'connected_gene': 'ENSG00000272086', 'score': 0.29}, {'connected_gene': 'GC05M032181', 'score': 0.21}]
chr5 GH05I032170 32170415 32175599 2.3 [{'connected_gene': 'ENSG00000272086', 'score': 550.77}, {'connected_gene': 'GOLPH3', 'score': 550.77}, {'connected_gene': 'GC05P032175', 'score': 550.77}, {'connected_gene': 'MTMR12', 'score': 24.16}, {'connected_gene': 'DROSHA', 'score': 11.4}, {'connected_gene': 'RPS8P8', 'score': 9.88}, {'connected_gene': 'RPL27P10', 'score': 8.13}, {'connected_gene': 'GC05P032142', 'score': 0.29}]
chr5 GH05I032131 32131797 32134095 0.46 [{'connected_gene': 'GC05P032135', 'score': 550.77}, {'connected_gene': 'ENSG00000200065', 'score': 550.77}, {'connected_gene': 'GOLPH3', 'score': 11.15}, {'connected_gene': 'MTMR12', 'score': 5.54}, {'connected_gene': 'ENSG00000250764', 'score': 0.39}]
chr5 GH05I032125 32125326 32127094 0.2 [{'connected_gene': 'ENSG00000250764', 'score': 0.77}, {'connected_gene': 'GC05P032135', 'score': 0.44}, {'connected_gene': 'GOLPH3', 'score': 0.25}]
chr5 GH05I032158 32158401 32158600 0.43 [{'connected_gene': 'GC05P032175', 'score': 0.39}, {'connected_gene': 'GC05P032142', 'score': 0.37}, {'connected_gene': 'GOLPH3', 'score': 0.37}]
chr5 GH05I032149 32149801 32150000 0.31 [{'connected_gene': 'GC05P032142', 'score': 0.44}, {'connected_gene': 'GOLPH3', 'score': 0.34}, {'connected_gene': 'GC05P032175', 'score': 0.34}]
chr5 GH05I032217 32217801 32218400 0.93 [{'connected_gene': 'PIR52245', 'score': 550.77}, {'connected_gene': 'DROSHA', 'score': 80.37}, {'connected_gene': 'GOLPH3', 'score': 12.51}, {'connected_gene': 'ZFR', 'score': 10.94}, {'connected_gene': 'MTMR12', 'score': 10.21}, {'connected_gene': 'RPL27P10', 'score': 0.77}, {'connected_gene': 'GC05M032181', 'score': 0.23}]
chr5 GH05I032307 32307160 32310600 1.14 [{'connected_gene': 'GC05P032310', 'score': 550.77}, {'connected_gene': 'RNU6-378P', 'score': 550.77}, {'connected_gene': 'GOLPH3', 'score': 11.01}, {'connected_gene': 'MIR579', 'score': 10.25}, {'connected_gene': 'ZFR', 'score': 10.2}, {'connected_gene': 'MTMR12', 'score': 8.19}, {'connected_gene': 'GC05M032181', 'score': 0.28}]