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
ENST00000375441 [[113862551, 113862921], [113864286, 113864402], [113873258, 113873362], [113882289, 113882359], [113883759, 113883833], [113887490, 113887653], [113888210, 113888300], [113889376, 113889459], [113891136, 113891204], [113893746, 113893865], [113897281, 113897474], [113898723, 113898828], [113899262, 113899373], [113899465, 113899551], [113900269, 113900377], [113907395, 113907509], [113909006, 113909112], [113909266, 113909439], [113914920, 113915073], [113917800, 113917896]] [[113873294, 113873362], [113882289, 113882359], [113883759, 113883833], [113887490, 113887653], [113888210, 113888300], [113889376, 113889459], [113891136, 113891204], [113893746, 113893865], [113897281, 113897474], [113898723, 113898828], [113899262, 113899373], [113899465, 113899551], [113900269, 113900377], [113907395, 113907509], [113909006, 113909112], [113909266, 113909439], [113914920, 113915073], [113917800, 113917896]]
ENST00000451881 [[113863085, 113863182], [113864286, 113864402], [113873258, 113873362], [113882289, 113882359], [113883759, 113883833], [113887490, 113887653], [113888210, 113888300], [113889376, 113889459], [113891136, 113891204], [113893746, 113893865], [113897281, 113897474], [113898723, 113898828], [113899262, 113899373], [113899465, 113899551], [113900269, 113900377], [113907395, 113907509], [113909006, 113909112], [113909266, 113909439], [113914920, 113915073], [113917800, 113919391]] [[113873294, 113873362], [113882289, 113882359], [113883759, 113883833], [113887490, 113887653], [113888210, 113888300], [113889376, 113889459], [113891136, 113891204], [113893746, 113893865], [113897281, 113897474], [113898723, 113898828], [113899262, 113899373], [113899465, 113899551], [113900269, 113900377], [113907395, 113907509], [113909006, 113909112], [113909266, 113909439], [113914920, 113915073], [113917800, 113917896]]
ENST00000326335 [[113863149, 113863182], [113864286, 113864377], [113873258, 113873362], [113882289, 113882359], [113883759, 113883833], [113887490, 113887653], [113888210, 113888300], [113889376, 113889459], [113891136, 113891204], [113893746, 113893865], [113897281, 113897474], [113898723, 113898828], [113899262, 113899373], [113899465, 113899551], [113900269, 113900377], [113907395, 113907509], [113909006, 113909112], [113909266, 113909439], [113914920, 113915073], [113917800, 113919399]] [[113873294, 113873362], [113882289, 113882359], [113883759, 113883833], [113887490, 113887653], [113888210, 113888300], [113889376, 113889459], [113891136, 113891204], [113893746, 113893865], [113897281, 113897474], [113898723, 113898828], [113899262, 113899373], [113899465, 113899551], [113900269, 113900377], [113907395, 113907509], [113909006, 113909112], [113909266, 113909439], [113914920, 113915073], [113917800, 113917896]]
ENST00000375440 [[113863857, 113864089], [113864286, 113864402], [113873258, 113873362], [113882289, 113882359], [113883759, 113883833], [113887490, 113887653], [113888210, 113888300], [113889376, 113889459], [113891136, 113891204], [113893746, 113893865], [113897281, 113897474], [113898723, 113898828], [113899262, 113899373], [113899465, 113899551], [113900269, 113900377], [113907395, 113907509], [113909006, 113909112], [113909266, 113909439], [113914920, 113915073], [113917800, 113917896]] [[113863941, 113864089], [113864286, 113864402], [113873258, 113873362], [113882289, 113882359], [113883759, 113883833], [113887490, 113887653], [113888210, 113888300], [113889376, 113889459], [113891136, 113891204], [113893746, 113893865], [113897281, 113897474], [113898723, 113898828], [113899262, 113899373], [113899465, 113899551], [113900269, 113900377], [113907395, 113907509], [113909006, 113909112], [113909266, 113909439], [113914920, 113915073], [113917800, 113917896]]
ENST00000470067 [[113898536, 113898828], [113899262, 113899373], [113899465, 113899551], [113900269, 113900377], [113907395, 113907509], [113909006, 113909089]] None
ENST00000472083 [[113900269, 113900377], [113907395, 113907509], [113909006, 113909112], [113909266, 113909439], [113917800, 113917873]] None
ENST00000488558 [[113863913, 113864089], [113864286, 113864402], [113873258, 113873362], [113882289, 113882359], [113883759, 113883833], [113883955, 113884266]] None
ENST00000474116 [[113863929, 113864089], [113864286, 113864402], [113873258, 113873362], [113873640, 113874126]] None
ENST00000494985 [[113863943, 113864089], [113873258, 113873362], [113882289, 113882331]] None
ENST00000463426 [[113864146, 113864402], [113873258, 113873362], [113882289, 113882359], [113883759, 113883833], [113883955, 113884592]] None
ENST00000498562 [[113864196, 113864402], [113873258, 113873362], [113882289, 113882359], [113883759, 113883833], [113887490, 113887653], [113888210, 113888300], [113889376, 113889459], [113891136, 113891139]] None
NM_001278513 [[113862506, 113862921], [113864286, 113864402], [113873258, 113873362], [113882289, 113882359], [113883759, 113883833], [113887490, 113887653], [113888210, 113888300], [113889376, 113889459], [113891136, 113891204], [113893746, 113893865], [113897281, 113897474], [113898723, 113898828], [113899262, 113899373], [113899465, 113899551], [113900269, 113900377], [113907395, 113907509], [113909006, 113909112], [113909266, 113909439], [113914920, 113915073], [113917800, 113919392]] [[113873294, 113873362], [113882289, 113882359], [113883759, 113883833], [113887490, 113887653], [113888210, 113888300], [113889376, 113889459], [113891136, 113891204], [113893746, 113893865], [113897281, 113897474], [113898723, 113898828], [113899262, 113899373], [113899465, 113899551], [113900269, 113900377], [113907395, 113907509], [113909006, 113909112], [113909266, 113909439], [113914920, 113915073], [113917800, 113917896]]
NM_001278514 [[113863007, 113863066], [113864286, 113864402], [113873258, 113873362], [113882289, 113882359], [113883759, 113883833], [113887466, 113887653], [113888210, 113888300], [113889376, 113889459], [113891136, 113891204], [113893746, 113893865], [113897281, 113897474], [113898723, 113898828], [113899262, 113899373], [113899465, 113899551], [113900269, 113900377], [113907395, 113907509], [113909006, 113909112], [113909266, 113909439], [113914920, 113915073], [113917800, 113919392]] [[113873294, 113873362], [113882289, 113882359], [113883759, 113883833], [113887466, 113887653], [113888210, 113888300], [113889376, 113889459], [113891136, 113891204], [113893746, 113893865], [113897281, 113897474], [113898723, 113898828], [113899262, 113899373], [113899465, 113899551], [113900269, 113900377], [113907395, 113907509], [113909006, 113909112], [113909266, 113909439], [113914920, 113915073], [113917800, 113917896]]
NM_003589 [[113863085, 113863182], [113864286, 113864402], [113873258, 113873362], [113882289, 113882359], [113883759, 113883833], [113887490, 113887653], [113888210, 113888300], [113889376, 113889459], [113891136, 113891204], [113893746, 113893865], [113897281, 113897474], [113898723, 113898828], [113899262, 113899373], [113899465, 113899551], [113900269, 113900377], [113907395, 113907509], [113909006, 113909112], [113909266, 113909439], [113914920, 113915073], [113917800, 113919392]] [[113873294, 113873362], [113882289, 113882359], [113883759, 113883833], [113887490, 113887653], [113888210, 113888300], [113889376, 113889459], [113891136, 113891204], [113893746, 113893865], [113897281, 113897474], [113898723, 113898828], [113899262, 113899373], [113899465, 113899551], [113900269, 113900377], [113907395, 113907509], [113909006, 113909112], [113909266, 113909439], [113914920, 113915073], [113917800, 113917896]]
NM_001008895 [[113863818, 113864089], [113864286, 113864402], [113873258, 113873362], [113882289, 113882359], [113883759, 113883833], [113887490, 113887653], [113888210, 113888300], [113889376, 113889459], [113891136, 113891204], [113893746, 113893865], [113897281, 113897474], [113898723, 113898828], [113899262, 113899373], [113899465, 113899551], [113900269, 113900377], [113907395, 113907509], [113909006, 113909112], [113909266, 113909439], [113914920, 113915073], [113917800, 113919392]] [[113863941, 113864089], [113864286, 113864402], [113873258, 113873362], [113882289, 113882359], [113883759, 113883833], [113887490, 113887653], [113888210, 113888300], [113889376, 113889459], [113891136, 113891204], [113893746, 113893865], [113897281, 113897474], [113898723, 113898828], [113899262, 113899373], [113899465, 113899551], [113900269, 113900377], [113907395, 113907509], [113909006, 113909112], [113909266, 113909439], [113914920, 113915073], [113917800, 113917896]]
Promoter
Chrom Start End Description
chr13 113863416 113863439 CAGE_peak_2_at_CUL4A_5end
chr13 113863911 113863947 CAGE_peak_1_at_CUL4A_5end
chr13 113863963 113863974 CAGE_peak_5_at_CUL4A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I113214 113214607 113217416 1.45 [{'connected_gene': 'PROZ', 'score': 23.22}, {'connected_gene': 'GRTP1', 'score': 10.44}, {'connected_gene': 'ADPRHL1', 'score': 6.96}, {'connected_gene': 'PCID2', 'score': 5.41}, {'connected_gene': 'MCF2L', 'score': 4.19}, {'connected_gene': 'DCUN1D2', 'score': 3.03}, {'connected_gene': 'F10', 'score': 1.67}, {'connected_gene': 'CUL4A', 'score': 0.44}, {'connected_gene': 'PIR53444', 'score': 0.31}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I113182 113182982 113189499 1.4 [{'connected_gene': 'PROZ', 'score': 26.95}, {'connected_gene': 'PCID2', 'score': 11.9}, {'connected_gene': 'CUL4A', 'score': 11.9}, {'connected_gene': 'F10-AS1', 'score': 11.03}, {'connected_gene': 'KARSP2', 'score': 11.03}, {'connected_gene': 'F10', 'score': 11.02}, {'connected_gene': 'GRTP1', 'score': 10.68}, {'connected_gene': 'F7', 'score': 10.66}, {'connected_gene': 'LAMP1', 'score': 10.6}, {'connected_gene': 'ENSG00000269356', 'score': 6.33}, {'connected_gene': 'ENSG00000269125', 'score': 0.34}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I113175 113175643 113181301 0.97 [{'connected_gene': 'PROZ', 'score': 27.49}, {'connected_gene': 'PCID2', 'score': 21.55}, {'connected_gene': 'CUL4A', 'score': 11.49}, {'connected_gene': 'F10-AS1', 'score': 11.2}, {'connected_gene': 'KARSP2', 'score': 11.2}, {'connected_gene': 'F10', 'score': 11.18}, {'connected_gene': 'F7', 'score': 10.69}, {'connected_gene': 'GRTP1', 'score': 10.67}, {'connected_gene': 'GRTP1-AS1', 'score': 10.56}, {'connected_gene': 'ENSG00000269356', 'score': 6.29}, {'connected_gene': 'ENSG00000269125', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113219 113219274 113221068 1.17 [{'connected_gene': 'PROZ', 'score': 21.15}, {'connected_gene': 'PCID2', 'score': 0.39}, {'connected_gene': 'CUL4A', 'score': 0.39}, {'connected_gene': 'PIR53444', 'score': 0.34}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I113205 113205213 113206135 0.66 [{'connected_gene': 'PROZ', 'score': 26.44}, {'connected_gene': 'PCID2', 'score': 5.94}, {'connected_gene': 'CUL4A', 'score': 0.77}, {'connected_gene': 'ENSG00000269125', 'score': 0.26}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I113218 113218105 113219056 0.2 [{'connected_gene': 'PROZ', 'score': 20.98}, {'connected_gene': 'PCID2', 'score': 0.44}, {'connected_gene': 'CUL4A', 'score': 0.39}, {'connected_gene': 'PIR53444', 'score': 0.34}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I113203 113203001 113205055 0.66 [{'connected_gene': 'PROZ', 'score': 17.53}, {'connected_gene': 'PCID2', 'score': 9.28}, {'connected_gene': 'CUL4A', 'score': 0.77}, {'connected_gene': 'ENSG00000269125', 'score': 0.28}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I113169 113169488 113171835 1.02 [{'connected_gene': 'PROZ', 'score': 15.68}, {'connected_gene': 'F10-AS1', 'score': 11.03}, {'connected_gene': 'KARSP2', 'score': 11.03}, {'connected_gene': 'F10', 'score': 11.02}, {'connected_gene': 'GRTP1', 'score': 9.89}, {'connected_gene': 'ENSG00000269125', 'score': 0.44}, {'connected_gene': 'CUL4A', 'score': 0.28}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113190 113190206 113191457 0.31 [{'connected_gene': 'PROZ', 'score': 26.73}, {'connected_gene': 'F10-AS1', 'score': 11.02}, {'connected_gene': 'KARSP2', 'score': 11.02}, {'connected_gene': 'F10', 'score': 11.01}, {'connected_gene': 'LAMP1', 'score': 10.61}, {'connected_gene': 'GRTP1-AS1', 'score': 10.6}, {'connected_gene': 'GRTP1', 'score': 10.6}, {'connected_gene': 'PCID2', 'score': 0.37}, {'connected_gene': 'CUL4A', 'score': 0.37}, {'connected_gene': 'ENSG00000269125', 'score': 0.31}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113151 113151745 113155318 1.44 [{'connected_gene': 'PROZ', 'score': 558.01}, {'connected_gene': 'LOC102724474', 'score': 550.77}, {'connected_gene': 'PCID2', 'score': 19.21}, {'connected_gene': 'TUBGCP3', 'score': 16.33}, {'connected_gene': 'F10-AS1', 'score': 10.96}, {'connected_gene': 'KARSP2', 'score': 10.96}, {'connected_gene': 'F10', 'score': 10.91}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.75}, {'connected_gene': 'CUL4A', 'score': 3.29}, {'connected_gene': 'ATP11A', 'score': 1.33}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113194 113194868 113195594 0.2 [{'connected_gene': 'PROZ', 'score': 10.84}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.11}, {'connected_gene': 'DCUN1D2', 'score': 9.11}, {'connected_gene': 'PCID2', 'score': 0.39}, {'connected_gene': 'CUL4A', 'score': 0.39}, {'connected_gene': 'ENSG00000269125', 'score': 0.29}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113196 113196448 113197905 0.4 [{'connected_gene': 'PROZ', 'score': 23.32}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.08}, {'connected_gene': 'DCUN1D2', 'score': 10.08}, {'connected_gene': 'PCID2', 'score': 0.39}, {'connected_gene': 'CUL4A', 'score': 0.39}, {'connected_gene': 'ENSG00000269125', 'score': 0.29}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113192 113192491 113194481 0.74 [{'connected_gene': 'PROZ', 'score': 22.95}, {'connected_gene': 'GRTP1-AS1', 'score': 10.61}, {'connected_gene': 'GRTP1', 'score': 10.6}, {'connected_gene': 'LAMP1', 'score': 10.45}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.41}, {'connected_gene': 'DCUN1D2', 'score': 9.41}, {'connected_gene': 'CUL4A', 'score': 0.39}, {'connected_gene': 'PCID2', 'score': 0.37}, {'connected_gene': 'ENSG00000269125', 'score': 0.31}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113174 113174359 113174520 0.25 [{'connected_gene': 'CUL4A', 'score': 1.55}, {'connected_gene': 'ATP11A', 'score': 1.5}, {'connected_gene': 'DCUN1D2', 'score': 1.16}, {'connected_gene': 'ENSG00000269125', 'score': 0.44}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113416 113416777 113417955 0.46 [{'connected_gene': 'CUL4A', 'score': 6.02}, {'connected_gene': 'RASA3', 'score': 5.61}, {'connected_gene': 'LOC101928841', 'score': 0.77}, {'connected_gene': 'PIR34234', 'score': 0.37}, {'connected_gene': 'ADPRHL1', 'score': 0.28}, {'connected_gene': 'GC13M113076', 'score': 0.15}]
chr13 GH13I113393 113393189 113394675 1.25 [{'connected_gene': 'PCID2', 'score': 23.55}, {'connected_gene': 'CDC16', 'score': 22.08}, {'connected_gene': 'GRTP1', 'score': 16.38}, {'connected_gene': 'TUBGCP3', 'score': 16.31}, {'connected_gene': 'GRTP1-AS1', 'score': 11.63}, {'connected_gene': 'CUL4A', 'score': 10.52}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.13}, {'connected_gene': 'DCUN1D2', 'score': 10.09}, {'connected_gene': 'RASA3', 'score': 5.33}, {'connected_gene': 'PIR34234', 'score': 0.77}, {'connected_gene': 'GC13M113076', 'score': 0.13}]
chr13 GH13I113232 113232063 113233245 0.52 [{'connected_gene': 'PCID2', 'score': 16.78}, {'connected_gene': 'PROZ', 'score': 13.5}, {'connected_gene': 'CUL4A', 'score': 11.81}, {'connected_gene': 'LAMP1', 'score': 10.6}, {'connected_gene': 'PIR53444', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I113206 113206329 113211354 2.33 [{'connected_gene': 'PCID2', 'score': 621.79}, {'connected_gene': 'CUL4A', 'score': 550.77}, {'connected_gene': 'TUBGCP3', 'score': 88.5}, {'connected_gene': 'PROZ', 'score': 26.44}, {'connected_gene': 'GAS6-AS1', 'score': 19.71}, {'connected_gene': 'GAS6', 'score': 12.12}, {'connected_gene': 'LAMP1', 'score': 10.22}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I113296 113296400 113298987 2.14 [{'connected_gene': 'LAMP1', 'score': 550.77}, {'connected_gene': 'CDC16', 'score': 76.98}, {'connected_gene': 'PCID2', 'score': 69.41}, {'connected_gene': 'TUBGCP3', 'score': 66.69}, {'connected_gene': 'UPF3A', 'score': 22.46}, {'connected_gene': 'GAS6-AS2', 'score': 12.64}, {'connected_gene': 'GAS6', 'score': 12.12}, {'connected_gene': 'CUL4A', 'score': 11.08}, {'connected_gene': 'GAS6-AS1', 'score': 10.6}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.05}, {'connected_gene': 'GC13P113323', 'score': 0.34}, {'connected_gene': 'PIR60275', 'score': 0.34}, {'connected_gene': 'GC13M113076', 'score': 0.07}]
chr13 GH13I113272 113272531 113275875 1.36 [{'connected_gene': 'LAMP1', 'score': 17.68}, {'connected_gene': 'PROZ', 'score': 15.87}, {'connected_gene': 'CUL4A', 'score': 11.96}, {'connected_gene': 'GRTP1', 'score': 11.29}, {'connected_gene': 'PCID2', 'score': 10.8}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.32}, {'connected_gene': 'DCUN1D2', 'score': 10.31}, {'connected_gene': 'LDHBP1', 'score': 0.77}, {'connected_gene': 'LOC105370377', 'score': 0.44}, {'connected_gene': 'GC13M113076', 'score': 0.07}]
chr13 GH13I113224 113224348 113224804 0.58 [{'connected_gene': 'LAMP1', 'score': 11.24}, {'connected_gene': 'PROZ', 'score': 10.4}, {'connected_gene': 'F10-AS1', 'score': 10.27}, {'connected_gene': 'KARSP2', 'score': 10.27}, {'connected_gene': 'F10', 'score': 10.25}, {'connected_gene': 'PCID2', 'score': 0.37}, {'connected_gene': 'PIR53444', 'score': 0.37}, {'connected_gene': 'CUL4A', 'score': 0.37}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I112928 112928230 112932434 1.64 [{'connected_gene': 'TUBGCP3', 'score': 6.06}, {'connected_gene': 'MCF2L', 'score': 5.83}, {'connected_gene': 'ENSG00000267868', 'score': 5.31}, {'connected_gene': 'ATP11A', 'score': 5.2}, {'connected_gene': 'CUL4A', 'score': 3.46}, {'connected_gene': 'GC13P112922', 'score': 0.44}]
chr13 GH13I113397 113397617 113398452 0.51 [{'connected_gene': 'PIR34234', 'score': 550.77}, {'connected_gene': 'GRTP1', 'score': 11.66}, {'connected_gene': 'GRTP1-AS1', 'score': 11.61}, {'connected_gene': 'PCID2', 'score': 10.52}, {'connected_gene': 'CUL4A', 'score': 10.52}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.13}, {'connected_gene': 'DCUN1D2', 'score': 10.09}, {'connected_gene': 'LOC101928841', 'score': 0.34}, {'connected_gene': 'GC13M113076', 'score': 0.13}]
chr13 GH13I113396 113396052 113397262 0.63 [{'connected_gene': 'PIR34234', 'score': 550.77}, {'connected_gene': 'GRTP1', 'score': 11.66}, {'connected_gene': 'GRTP1-AS1', 'score': 11.63}, {'connected_gene': 'PCID2', 'score': 10.52}, {'connected_gene': 'CUL4A', 'score': 10.52}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.13}, {'connected_gene': 'DCUN1D2', 'score': 10.09}, {'connected_gene': 'GC13M113076', 'score': 0.13}]

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