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
ENST00000253778 [[179727689, 179728608], [179729422, 179729584], [179731771, 179731939], [179734175, 179734303], [179739429, 179739544], [179740806, 179740964], [179743340, 179743461], [179743763, 179743861], [179743962, 179744058], [179745792, 179745956], [179751187, 179751305], [179751815, 179751895], [179755276, 179755338], [179757699, 179757834], [179758494, 179758553], [179762827, 179762953], [179763478, 179763577], [179765492, 179765600], [179780210, 179780387]] [[179728563, 179728608], [179729422, 179729584], [179731771, 179731939], [179734175, 179734303], [179739429, 179739544], [179740806, 179740964], [179743340, 179743461], [179743763, 179743861], [179743962, 179744058], [179745792, 179745956], [179751187, 179751305], [179751815, 179751895], [179755276, 179755338], [179757699, 179757834], [179758494, 179758553], [179762827, 179762953], [179763478, 179763577], [179765492, 179765600], [179780210, 179780217]]
ENST00000520165 [[179743763, 179743861], [179743962, 179744058], [179745792, 179745956], [179751187, 179751486]] None
ENST00000510122 [[179745618, 179745956], [179751187, 179751364]] None
ENST00000518906 [[179745808, 179745956], [179751187, 179751305], [179751815, 179751895], [179755276, 179755338], [179757699, 179757834], [179758494, 179758648]] [[179745808, 179745956], [179751187, 179751305], [179751815, 179751895], [179755276, 179755338], [179757699, 179757834], [179758494, 179758599]]
ENST00000518185 [[179745843, 179745956], [179751187, 179751305], [179751815, 179751895], [179755276, 179755338], [179757699, 179757934]] None
ENST00000518158 [[179758411, 179758553], [179762827, 179762953], [179763478, 179763577], [179765492, 179765600], [179780210, 179780336]] None
ENST00000503546 [[179762868, 179763577], [179765492, 179765600], [179780210, 179780336]] None
ENST00000503228 [[179765572, 179765600], [179779371, 179779900]] [[179765572, 179765600], [179779371, 179779879]]
NM_005110 [[179727689, 179728608], [179729422, 179729584], [179731771, 179731939], [179734175, 179734303], [179739429, 179739544], [179740806, 179740964], [179743340, 179743461], [179743763, 179743861], [179743962, 179744058], [179745792, 179745956], [179751187, 179751305], [179751815, 179751895], [179755276, 179755338], [179757699, 179757834], [179758494, 179758553], [179762827, 179762953], [179763478, 179763577], [179765492, 179765600], [179780210, 179780387]] [[179728563, 179728608], [179729422, 179729584], [179731771, 179731939], [179734175, 179734303], [179739429, 179739544], [179740806, 179740964], [179743340, 179743461], [179743763, 179743861], [179743962, 179744058], [179745792, 179745956], [179751187, 179751305], [179751815, 179751895], [179755276, 179755338], [179757699, 179757834], [179758494, 179758553], [179762827, 179762953], [179763478, 179763577], [179765492, 179765600], [179780210, 179780217]]
Promoter
Chrom Start End Description
chr5 179757790 179757847 CAGE_peak_2_at_GFPT2_5end
chr5 179757851 179757870 CAGE_peak_4_at_GFPT2_5end
chr5 179757923 179757948 CAGE_peak_3_at_GFPT2_5end
chr5 179765890 179765911 CAGE_peak_10_at_GFPT2_5end
chr5 179780312 179780343 CAGE_peak_1_at_GFPT2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I180351 180351790 180354206 2.04 [{'connected_gene': 'GFPT2', 'score': 550.77}, {'connected_gene': 'BTNL9', 'score': 4.44}, {'connected_gene': 'PIR49031', 'score': 0.25}]
chr5 GH05I180367 180367321 180367470 0.49 [{'connected_gene': 'GFPT2', 'score': 0.39}, {'connected_gene': 'PIR42519', 'score': 0.21}]
chr5 GH05I180366 180366361 180366510 0.31 [{'connected_gene': 'GFPT2', 'score': 0.39}, {'connected_gene': 'PIR42519', 'score': 0.21}]
chr5 GH05I179696 179696484 179701405 2.32 [{'connected_gene': 'CANX', 'score': 572.53}, {'connected_gene': 'GC05M179696', 'score': 550.77}, {'connected_gene': 'MAML1', 'score': 73.92}, {'connected_gene': 'HNRNPH1', 'score': 66.62}, {'connected_gene': 'ZNF354B', 'score': 55.76}, {'connected_gene': 'RUFY1', 'score': 48.23}, {'connected_gene': 'MRNIP', 'score': 27.62}, {'connected_gene': 'ZNF879', 'score': 25.4}, {'connected_gene': 'LOC101928445', 'score': 19.93}, {'connected_gene': 'ADAMTS2', 'score': 18.41}, {'connected_gene': 'MGAT4B', 'score': 16.64}, {'connected_gene': 'ZNF454', 'score': 13.66}, {'connected_gene': 'GFPT2', 'score': 13.61}, {'connected_gene': 'CNOT6', 'score': 12.14}, {'connected_gene': 'LOC100996419', 'score': 11.95}, {'connected_gene': 'LTC4S', 'score': 11.53}, {'connected_gene': 'MIR1229', 'score': 11.53}, {'connected_gene': 'SQSTM1', 'score': 11.52}, {'connected_gene': 'LOC105377763', 'score': 10.83}, {'connected_gene': 'PRDX2P3', 'score': 10.06}, {'connected_gene': 'RNF130', 'score': 5.03}, {'connected_gene': 'TBC1D9B', 'score': 4.86}, {'connected_gene': 'GC05M179695', 'score': 0.39}]
chr5 GH05I181202 181202890 181208530 2.31 [{'connected_gene': 'TRIM7', 'score': 579.59}, {'connected_gene': 'ENSG00000248514', 'score': 575.67}, {'connected_gene': 'GC05P181245', 'score': 550.77}, {'connected_gene': 'TRA-TGC3-1', 'score': 550.77}, {'connected_gene': 'PIR42038', 'score': 550.77}, {'connected_gene': 'TRIM52', 'score': 36.1}, {'connected_gene': 'ENSG00000233937', 'score': 25.44}, {'connected_gene': 'ZFP62', 'score': 25.09}, {'connected_gene': 'CNOT6', 'score': 21.77}, {'connected_gene': 'RACK1', 'score': 20.81}, {'connected_gene': 'GFPT2', 'score': 11.38}, {'connected_gene': 'RASGEF1C', 'score': 11.26}, {'connected_gene': 'ENSG00000248367', 'score': 10.59}, {'connected_gene': 'MGAT1', 'score': 9.82}, {'connected_gene': 'TRIM52-AS1', 'score': 5.69}, {'connected_gene': 'MAPK9', 'score': 4.58}, {'connected_gene': 'TRK-CTT2-2', 'score': 0.77}, {'connected_gene': 'PIR62062', 'score': 0.77}, {'connected_gene': 'PIR58457', 'score': 0.77}, {'connected_gene': 'ENSG00000250900', 'score': 0.39}]
chr5 GH05I181168 181168921 181170800 1.42 [{'connected_gene': 'TRV-AAC1-3', 'score': 550.77}, {'connected_gene': 'ZFP62', 'score': 23.51}, {'connected_gene': 'CNOT6', 'score': 13.54}, {'connected_gene': 'ENSG00000248514', 'score': 13.17}, {'connected_gene': 'TRIM52', 'score': 11.7}, {'connected_gene': 'GFPT2', 'score': 11.38}, {'connected_gene': 'ENSG00000233937', 'score': 11.26}, {'connected_gene': 'ENSG00000248103', 'score': 10.36}, {'connected_gene': 'RACK1', 'score': 8.27}, {'connected_gene': 'TRV-CAC1-4', 'score': 0.77}]
chr5 GH05I181215 181215869 181219200 1.53 [{'connected_gene': 'TRV-AAC1-4', 'score': 550.77}, {'connected_gene': 'ENSG00000233937', 'score': 77.6}, {'connected_gene': 'RACK1', 'score': 45.24}, {'connected_gene': 'TRIM52', 'score': 40.98}, {'connected_gene': 'TRIM52-AS1', 'score': 30.54}, {'connected_gene': 'ZFP62', 'score': 27.72}, {'connected_gene': 'CNOT6', 'score': 22.53}, {'connected_gene': 'SNORD96A', 'score': 19.56}, {'connected_gene': 'MGAT1', 'score': 19.03}, {'connected_gene': 'TRIM7', 'score': 14.35}, {'connected_gene': 'GFPT2', 'score': 11.38}, {'connected_gene': 'ENSG00000248367', 'score': 10.59}, {'connected_gene': 'PIR62062', 'score': 0.44}]
chr5 GH05I180859 180859850 180862200 2.06 [{'connected_gene': 'ZFP62', 'score': 580.54}, {'connected_gene': 'ENSG00000233937', 'score': 44.58}, {'connected_gene': 'TRIM52', 'score': 30.31}, {'connected_gene': 'SNORD96A', 'score': 28.14}, {'connected_gene': 'CNOT6', 'score': 27.43}, {'connected_gene': 'MRNIP', 'score': 27.31}, {'connected_gene': 'GFPT2', 'score': 11.26}, {'connected_gene': 'LINC00847', 'score': 5.41}, {'connected_gene': 'GC05P181054', 'score': 0.77}]
chr5 GH05I180324 180324197 180325945 0.59 [{'connected_gene': 'MAPK9', 'score': 17.3}, {'connected_gene': 'GFPT2', 'score': 12.02}, {'connected_gene': 'ENSG00000248367', 'score': 11.83}, {'connected_gene': 'PIR49031', 'score': 0.37}]
chr5 GH05I180337 180337475 180339239 0.31 [{'connected_gene': 'MAPK9', 'score': 11.05}, {'connected_gene': 'ENSG00000248367', 'score': 11.05}, {'connected_gene': 'GFPT2', 'score': 0.37}, {'connected_gene': 'PIR49031', 'score': 0.29}]
chr5 GH05I180340 180340489 180341400 0.2 [{'connected_gene': 'MAPK9', 'score': 11.05}, {'connected_gene': 'ENSG00000248367', 'score': 11.05}, {'connected_gene': 'GFPT2', 'score': 0.39}, {'connected_gene': 'PIR49031', 'score': 0.29}]
chr5 GH05I180323 180323355 180324164 0.57 [{'connected_gene': 'MAPK9', 'score': 11.83}, {'connected_gene': 'ENSG00000248367', 'score': 11.83}, {'connected_gene': 'PIR49031', 'score': 0.37}, {'connected_gene': 'GFPT2', 'score': 0.31}]
chr5 GH05I180329 180328741 180328970 0.97 [{'connected_gene': 'MAPK9', 'score': 11.98}, {'connected_gene': 'ENSG00000248367', 'score': 11.98}, {'connected_gene': 'GFPT2', 'score': 0.34}, {'connected_gene': 'PIR49031', 'score': 0.34}]
chr5 GH05I180313 180313281 180314607 1.01 [{'connected_gene': 'MAPK9', 'score': 11.69}, {'connected_gene': 'PIR49031', 'score': 0.44}, {'connected_gene': 'GFPT2', 'score': 0.28}]
chr5 GH05I180335 180335183 180336251 0.38 [{'connected_gene': 'MAPK9', 'score': 11.97}, {'connected_gene': 'ENSG00000248367', 'score': 11.97}, {'connected_gene': 'GFPT2', 'score': 0.37}, {'connected_gene': 'PIR49031', 'score': 0.31}]
chr5 GH05I180342 180342290 180345861 1.11 [{'connected_gene': 'MAPK9', 'score': 11.03}, {'connected_gene': 'ENSG00000248367', 'score': 11.03}, {'connected_gene': 'GFPT2', 'score': 5.38}, {'connected_gene': 'PIR49031', 'score': 0.28}]
chr5 GH05I180328 180328996 180334782 1.26 [{'connected_gene': 'MAPK9', 'score': 17.48}, {'connected_gene': 'ENSG00000248367', 'score': 11.98}, {'connected_gene': 'GFPT2', 'score': 0.34}, {'connected_gene': 'PIR49031', 'score': 0.34}]
chr5 GH05I180339 180339432 180340283 0.2 [{'connected_gene': 'MAPK9', 'score': 11.05}, {'connected_gene': 'ENSG00000248367', 'score': 11.05}, {'connected_gene': 'GFPT2', 'score': 0.39}, {'connected_gene': 'PIR49031', 'score': 0.29}]
chr5 GH05I180370 180370696 180371961 0.46 [{'connected_gene': 'MAPK9', 'score': 11.04}, {'connected_gene': 'ENSG00000248367', 'score': 11.04}, {'connected_gene': 'RACK1', 'score': 4.98}, {'connected_gene': 'GFPT2', 'score': 0.37}, {'connected_gene': 'PIR42519', 'score': 0.22}]
chr5 GH05I180350 180350875 180351220 0.53 [{'connected_gene': 'OR2Y1', 'score': 8.92}, {'connected_gene': 'GFPT2', 'score': 0.77}, {'connected_gene': 'PIR49031', 'score': 0.26}]
chr5 GH05I180360 180360136 180360376 0.42 [{'connected_gene': 'OR2Y1', 'score': 1.34}, {'connected_gene': 'GFPT2', 'score': 0.44}, {'connected_gene': 'PIR42519', 'score': 0.19}]
chr5 GH05I180798 180798540 180812600 2.32 [{'connected_gene': 'MGAT1', 'score': 576.02}, {'connected_gene': 'ENSG00000233937', 'score': 25.22}, {'connected_gene': 'RACK1', 'score': 22.27}, {'connected_gene': 'GFPT2', 'score': 14.99}, {'connected_gene': 'RN7SKP150', 'score': 14.48}, {'connected_gene': 'LOC100996419', 'score': 12.23}, {'connected_gene': 'ENSG00000250900', 'score': 10.61}, {'connected_gene': 'TRIM7', 'score': 10.61}, {'connected_gene': 'ZFP62', 'score': 4.92}, {'connected_gene': 'ENSG00000280161', 'score': 0.77}, {'connected_gene': 'PIR38467', 'score': 0.39}]
chr5 GH05I181187 181187000 181193459 2.15 [{'connected_gene': 'LOC105377769', 'score': 550.77}, {'connected_gene': 'TRT-TGT6-1', 'score': 550.77}, {'connected_gene': 'PIR54518', 'score': 550.77}, {'connected_gene': 'TRV-AAC2-1', 'score': 550.77}, {'connected_gene': 'TRP-TGG3-1', 'score': 550.77}, {'connected_gene': 'LINC01962', 'score': 550.77}, {'connected_gene': 'GC05M181234', 'score': 550.77}, {'connected_gene': 'GC05M181233', 'score': 550.77}, {'connected_gene': 'TRIM52', 'score': 41.74}, {'connected_gene': 'ENSG00000233937', 'score': 32.7}, {'connected_gene': 'ZFP62', 'score': 25.92}, {'connected_gene': 'ENSG00000248514', 'score': 23.75}, {'connected_gene': 'CNOT6', 'score': 22.08}, {'connected_gene': 'TRIM7', 'score': 20.26}, {'connected_gene': 'GFPT2', 'score': 11.38}, {'connected_gene': 'RASGEF1C', 'score': 11.26}, {'connected_gene': 'ENSG00000248367', 'score': 10.59}, {'connected_gene': 'SNORD96A', 'score': 10.3}, {'connected_gene': 'TRIM52-AS1', 'score': 4.21}, {'connected_gene': 'TRIM41', 'score': 2.21}, {'connected_gene': 'TRL-AAG2-1', 'score': 0.77}, {'connected_gene': 'PIR48234', 'score': 0.77}]
chr5 GH05I181172 181172801 181174607 1.44 [{'connected_gene': 'TRV-CAC1-4', 'score': 550.77}, {'connected_gene': 'PIR55575', 'score': 550.77}, {'connected_gene': 'TRL-AAG1-3', 'score': 550.77}, {'connected_gene': 'TRIM52', 'score': 37.82}, {'connected_gene': 'ZFP62', 'score': 34.16}, {'connected_gene': 'CNOT6', 'score': 21.96}, {'connected_gene': 'ENSG00000248514', 'score': 18.09}, {'connected_gene': 'GFPT2', 'score': 11.38}, {'connected_gene': 'ENSG00000233937', 'score': 11.27}, {'connected_gene': 'RASGEF1C', 'score': 11.26}]
chr5 GH05I180315 180315801 180315930 0.73 [{'connected_gene': 'PIR49031', 'score': 0.44}, {'connected_gene': 'GFPT2', 'score': 0.28}]
chr5 GH05I181221 181221077 181225426 2.36 [{'connected_gene': 'PIR33457', 'score': 550.77}, {'connected_gene': 'MIR4638', 'score': 550.77}, {'connected_gene': 'TRK-CTT2-3', 'score': 550.77}, {'connected_gene': 'PIR62653', 'score': 550.77}, {'connected_gene': 'TRV-CAC1-5', 'score': 550.77}, {'connected_gene': 'TRIM41', 'score': 550.77}, {'connected_gene': 'ENSG00000233937', 'score': 74.78}, {'connected_gene': 'RACK1', 'score': 46.34}, {'connected_gene': 'TRIM52', 'score': 41.75}, {'connected_gene': 'TRIM52-AS1', 'score': 36.83}, {'connected_gene': 'CNOT6', 'score': 22.09}, {'connected_gene': 'ENSG00000248367', 'score': 20.99}, {'connected_gene': 'GFPT2', 'score': 20.88}, {'connected_gene': 'MGAT1', 'score': 18.24}, {'connected_gene': 'ZFP62', 'score': 15.18}, {'connected_gene': 'MAPK9', 'score': 11.61}, {'connected_gene': 'SNORD96A', 'score': 10.43}, {'connected_gene': 'ENSG00000248103', 'score': 10.31}, {'connected_gene': 'TRIM7', 'score': 7.39}, {'connected_gene': 'ENSG00000247049', 'score': 0.44}]

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