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
NM_003890 [[40353962, 40354136], [40354260, 40354532], [40357376, 40357760], [40360855, 40361055], [40362717, 40363291], [40363863, 40364435], [40366027, 40366571], [40367297, 40367914], [40368302, 40368876], [40370194, 40370532], [40373944, 40374086], [40376312, 40376512], [40376630, 40377225], [40380118, 40380711], [40382282, 40382826], [40383550, 40384167], [40384561, 40385135], [40386445, 40386783], [40389651, 40389793], [40391997, 40392197], [40392315, 40392910], [40395803, 40396396], [40397966, 40398510], [40399238, 40399855], [40400249, 40400823], [40402133, 40402471], [40405918, 40406060], [40407935, 40408135], [40408253, 40408848], [40411637, 40412230], [40419596, 40420164], [40421091, 40421696], [40423978, 40424549], [40430289, 40430639], [40432965, 40434213], [40440470, 40440533]] [[40354126, 40354136], [40354260, 40354532], [40357376, 40357760], [40360855, 40361055], [40362717, 40363291], [40363863, 40364435], [40366027, 40366571], [40367297, 40367914], [40368302, 40368876], [40370194, 40370532], [40373944, 40374086], [40376312, 40376512], [40376630, 40377225], [40380118, 40380711], [40382282, 40382826], [40383550, 40384167], [40384561, 40385135], [40386445, 40386783], [40389651, 40389793], [40391997, 40392197], [40392315, 40392910], [40395803, 40396396], [40397966, 40398510], [40399238, 40399855], [40400249, 40400823], [40402133, 40402471], [40405918, 40406060], [40407935, 40408135], [40408253, 40408848], [40411637, 40412230], [40419596, 40420164], [40421091, 40421696], [40423978, 40424549], [40430289, 40430639], [40432965, 40434213], [40440470, 40440525]]
Promoter
Chrom Start End Description
chr19 40440535 40440541 CAGE_peak_1_at_FCGBP_5end
chr19 40440897 40440908 CAGE_peak_2_at_FCGBP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I039960 39960190 39960500 0.54 [{'connected_gene': 'FCGBP', 'score': 12.09}, {'connected_gene': 'ZNF546', 'score': 2.95}, {'connected_gene': 'GC19P039957', 'score': 0.77}, {'connected_gene': 'PIR61583', 'score': 0.44}]
chr19 GH19I039933 39933972 39937839 1.09 [{'connected_gene': 'FCGBP', 'score': 563.44}, {'connected_gene': 'ZNF780A', 'score': 18.26}, {'connected_gene': 'AKT2', 'score': 15.07}, {'connected_gene': 'ZNF780B', 'score': 14.75}, {'connected_gene': 'ENSG00000269843', 'score': 12.13}, {'connected_gene': 'SNRPA', 'score': 11.83}, {'connected_gene': 'PSMC4', 'score': 10.87}, {'connected_gene': 'RN7SL566P', 'score': 10.69}, {'connected_gene': 'FBL', 'score': 10.58}, {'connected_gene': 'TTC9B', 'score': 9.98}, {'connected_gene': 'CNTD2', 'score': 9.98}, {'connected_gene': 'PRR13P5', 'score': 0.44}]
chr19 GH19I039881 39881091 39882200 1 [{'connected_gene': 'FCGBP', 'score': 9.14}, {'connected_gene': 'GC19P039887', 'score': 0.44}, {'connected_gene': 'FBL', 'score': 0.28}]
chr19 GH19I039950 39950678 39954486 1.2 [{'connected_gene': 'FCGBP', 'score': 29.16}, {'connected_gene': 'ZNF780B', 'score': 12.03}, {'connected_gene': 'AKT2', 'score': 11.1}, {'connected_gene': 'FBL', 'score': 10.87}, {'connected_gene': 'ZNF780A', 'score': 4.53}, {'connected_gene': 'ZNF546', 'score': 3.12}, {'connected_gene': 'GC19P039957', 'score': 0.77}, {'connected_gene': 'PRR13P5', 'score': 0.44}]
chr19 GH19I039920 39920054 39920163 0.46 [{'connected_gene': 'FCGBP', 'score': 0.39}, {'connected_gene': 'GC19M039890', 'score': 0.31}]
chr19 GH19I039897 39897344 39898440 0.78 [{'connected_gene': 'FCGBP', 'score': 9.66}, {'connected_gene': 'GC19M039890', 'score': 0.44}]
chr19 GH19I039908 39908042 39908377 0.24 [{'connected_gene': 'SUPT5H', 'score': 1.37}, {'connected_gene': 'GC19M039890', 'score': 0.37}, {'connected_gene': 'FCGBP', 'score': 0.31}]
chr19 GH19I039969 39969010 39972613 2.32 [{'connected_gene': 'PSMC4', 'score': 561.37}, {'connected_gene': 'GC19M039967', 'score': 550.77}, {'connected_gene': 'ZNF780A', 'score': 39.64}, {'connected_gene': 'FCGBP', 'score': 26.58}, {'connected_gene': 'AKT2', 'score': 25.27}, {'connected_gene': 'ENSG00000269843', 'score': 21.97}, {'connected_gene': 'SNRPA', 'score': 11.84}, {'connected_gene': 'RN7SL566P', 'score': 10.69}, {'connected_gene': 'FBL', 'score': 10.54}, {'connected_gene': 'FBXO17', 'score': 9.8}, {'connected_gene': 'PRX', 'score': 7.58}, {'connected_gene': 'SUPT5H', 'score': 5.51}, {'connected_gene': 'ENSG00000268366', 'score': 5.07}, {'connected_gene': 'ENSG00000269069', 'score': 4.59}, {'connected_gene': 'PIR61583', 'score': 0.77}, {'connected_gene': 'GC19M039966', 'score': 0.08}]
chr19 GH19I039940 39940146 39946863 1.34 [{'connected_gene': 'PRR13P5', 'score': 550.77}, {'connected_gene': 'FCGBP', 'score': 35.8}, {'connected_gene': 'ZNF780A', 'score': 24.88}, {'connected_gene': 'PSMC4', 'score': 12.31}, {'connected_gene': 'SNRPA', 'score': 11.54}, {'connected_gene': 'FBL', 'score': 10.37}, {'connected_gene': 'ENSG00000269843', 'score': 10.19}, {'connected_gene': 'CNTD2', 'score': 9.73}, {'connected_gene': 'TTC9B', 'score': 9.73}, {'connected_gene': 'COQ8B', 'score': 9.72}, {'connected_gene': 'ZNF546', 'score': 2.89}, {'connected_gene': 'SERTAD1', 'score': 1.32}]
chr19 GH19I040190 40190074 40192401 2.28 [{'connected_gene': 'MAP3K10', 'score': 559.26}, {'connected_gene': 'ZNF780B', 'score': 45.96}, {'connected_gene': 'NUMBL', 'score': 37.89}, {'connected_gene': 'CYP2G1P', 'score': 31.54}, {'connected_gene': 'EID2B', 'score': 28.78}, {'connected_gene': 'SUPT5H', 'score': 18.22}, {'connected_gene': 'AKT2', 'score': 15.17}, {'connected_gene': 'PAF1', 'score': 13.11}, {'connected_gene': 'TTC9B', 'score': 12.48}, {'connected_gene': 'CNTD2', 'score': 12.17}, {'connected_gene': 'ENSG00000269843', 'score': 12.14}, {'connected_gene': 'ZNF546', 'score': 12.05}, {'connected_gene': 'SNRPA', 'score': 11.84}, {'connected_gene': 'ZNF780A', 'score': 10.88}, {'connected_gene': 'RN7SL566P', 'score': 10.68}, {'connected_gene': 'PSMC4', 'score': 10.67}, {'connected_gene': 'FBL', 'score': 10.47}, {'connected_gene': 'HIPK4', 'score': 10.42}, {'connected_gene': 'ENSG00000206925', 'score': 10.1}, {'connected_gene': 'C19orf47', 'score': 10.1}, {'connected_gene': 'PLD3', 'score': 10.1}, {'connected_gene': 'FCGBP', 'score': 5.32}, {'connected_gene': 'SERTAD1', 'score': 2.17}, {'connected_gene': 'GC19M039966', 'score': 0.31}]
chr19 GH19I039995 39995856 39998743 2.3 [{'connected_gene': 'ZNF546', 'score': 570.97}, {'connected_gene': 'GC19M039992', 'score': 550.77}, {'connected_gene': 'CYP2G1P', 'score': 39.12}, {'connected_gene': 'SNRPA', 'score': 37.69}, {'connected_gene': 'FBL', 'score': 34.75}, {'connected_gene': 'ZNF780B', 'score': 31.3}, {'connected_gene': 'SUPT5H', 'score': 30.74}, {'connected_gene': 'FCGBP', 'score': 26.51}, {'connected_gene': 'ENSG00000269843', 'score': 23.89}, {'connected_gene': 'PAK4', 'score': 23.03}, {'connected_gene': 'PLEKHG2', 'score': 21.83}, {'connected_gene': 'EID2B', 'score': 21.55}, {'connected_gene': 'SAMD4B', 'score': 19.8}, {'connected_gene': 'SPTBN4', 'score': 12.85}, {'connected_gene': 'PSMC4', 'score': 12.59}, {'connected_gene': 'PAF1', 'score': 11.62}, {'connected_gene': 'RN7SL566P', 'score': 11.36}, {'connected_gene': 'NUMBL', 'score': 11.28}, {'connected_gene': 'ENSG00000268366', 'score': 10.8}, {'connected_gene': 'EID2', 'score': 10.28}, {'connected_gene': 'SERTAD3', 'score': 10.27}, {'connected_gene': 'CNTD2', 'score': 10.03}, {'connected_gene': 'TTC9B', 'score': 10.03}, {'connected_gene': 'COQ8B', 'score': 9.9}, {'connected_gene': 'ITPKC', 'score': 9.88}, {'connected_gene': 'RPS16', 'score': 9.69}, {'connected_gene': 'LTBP4', 'score': 9.67}, {'connected_gene': 'C19orf54', 'score': 4.77}, {'connected_gene': 'ENSG00000269069', 'score': 4.74}, {'connected_gene': 'PIR39291', 'score': 0.44}, {'connected_gene': 'GC19P040008', 'score': 0.44}, {'connected_gene': 'GC19M039966', 'score': 0.1}]
chr19 GH19I040143 40143254 40145874 0.88 [{'connected_gene': 'ZNF780A', 'score': 33.58}, {'connected_gene': 'FCGBP', 'score': 24.54}, {'connected_gene': 'PAF1', 'score': 13.11}, {'connected_gene': 'NUMBL', 'score': 10.01}, {'connected_gene': 'SUPT5H', 'score': 9.77}, {'connected_gene': 'GC19M040148', 'score': 0.44}, {'connected_gene': 'GC19M039966', 'score': 0.37}, {'connected_gene': 'VN1R96P', 'score': 0.34}]
chr19 GH19I039892 39892743 39894602 0.2 [{'connected_gene': 'IFNL3', 'score': 5.24}, {'connected_gene': 'GC19M039890', 'score': 0.77}, {'connected_gene': 'FCGBP', 'score': 0.26}]
chr19 GH19I039968 39968042 39968311 0.57 [{'connected_gene': 'PIR61583', 'score': 550.77}, {'connected_gene': 'FCGBP', 'score': 48.09}, {'connected_gene': 'ZNF546', 'score': 3.15}, {'connected_gene': 'GC19M039967', 'score': 0.77}, {'connected_gene': 'GC19P039957', 'score': 0.39}, {'connected_gene': 'GC19M039966', 'score': 0.08}]
chr19 GH19I040005 40005618 40007103 1.03 [{'connected_gene': 'PIR39291', 'score': 550.77}, {'connected_gene': 'GC19P040008', 'score': 550.77}, {'connected_gene': 'FCGBP', 'score': 26.5}, {'connected_gene': 'ZNF780B', 'score': 15.03}, {'connected_gene': 'NUMBL', 'score': 11.23}, {'connected_gene': 'CYP2G1P', 'score': 11.04}, {'connected_gene': 'PAK4', 'score': 10.85}, {'connected_gene': 'EID2B', 'score': 10.14}, {'connected_gene': 'PIR41450', 'score': 0.44}, {'connected_gene': 'ZNF546', 'score': 0.34}, {'connected_gene': 'GC19M039966', 'score': 0.1}]
chr19 GH19I039909 39909614 39909763 0.59 [{'connected_gene': 'GC19M039890', 'score': 0.37}, {'connected_gene': 'FCGBP', 'score': 0.34}]
chr19 GH19I040161 40161616 40162481 0.56 [{'connected_gene': 'GC19M039966', 'score': 550.77}, {'connected_gene': 'PAF1', 'score': 13.11}, {'connected_gene': 'TTC9B', 'score': 11.84}, {'connected_gene': 'CNTD2', 'score': 11.54}, {'connected_gene': 'NUMBL', 'score': 10.01}, {'connected_gene': 'SUPT5H', 'score': 9.77}, {'connected_gene': 'ZNF780A', 'score': 9.6}, {'connected_gene': 'FCGBP', 'score': 8.42}, {'connected_gene': 'PIR31992', 'score': 0.77}, {'connected_gene': 'GC19M040160', 'score': 0.77}]
chr19 GH19I039874 39874641 39874710 0.49 [{'connected_gene': 'GC19P039887', 'score': 0.39}, {'connected_gene': 'FBL', 'score': 0.31}, {'connected_gene': 'FCGBP', 'score': 0.22}]
chr19 GH19I040162 40162619 40164029 0.64 [{'connected_gene': 'GC19M039966', 'score': 550.77}, {'connected_gene': 'TTC9B', 'score': 11.84}, {'connected_gene': 'CNTD2', 'score': 11.55}, {'connected_gene': 'FCGBP', 'score': 9.81}, {'connected_gene': 'ZNF780A', 'score': 9.6}, {'connected_gene': 'MAP3K10', 'score': 5.36}]