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
ENST00000443455 [[98164027, 98164071], [98164165, 98164194], [98165881, 98165954], [98166048, 98166077], [98167751, 98167824], [98167914, 98167943], [98169630, 98169703], [98169805, 98169834], [98171522, 98171595], [98171688, 98171717], [98173399, 98173472], [98173566, 98173595], [98175261, 98175334], [98175428, 98175457], [98177127, 98177200], [98177294, 98177323], [98195368, 98195506], [98196924, 98197031], [98201406, 98201580], [98201746, 98201861], [98205987, 98206327]] None
ENST00000419390 [[98167774, 98167824], [98167914, 98167943], [98169630, 98169703], [98169805, 98169834], [98171522, 98171595], [98171688, 98171717], [98173399, 98173472], [98173566, 98173595], [98175261, 98175334], [98175428, 98175457], [98177127, 98177200], [98177294, 98177323], [98201406, 98201580], [98201746, 98201861], [98205987, 98206278]] None
ENST00000497329 [[98108977, 98109319], [98123498, 98123528], [98124026, 98124120], [98124457, 98124528], [98126043, 98126196], [98127600, 98127712]] None
ENST00000488634 [[98109129, 98109319], [98123498, 98123528], [98124026, 98124528], [98126043, 98126196], [98127600, 98128072]] None
NM_025190 [[98121260, 98122898], [98123498, 98123528], [98124026, 98124120], [98124457, 98124528], [98126043, 98126196], [98127600, 98128515], [98129642, 98129826], [98132194, 98132408], [98139788, 98139930], [98148773, 98148847], [98152762, 98152835], [98152930, 98152959], [98154630, 98154703], [98154797, 98154826], [98156496, 98156569], [98156663, 98156692], [98158373, 98158446], [98158541, 98158570], [98160252, 98160325], [98160419, 98160448], [98162128, 98162201], [98162295, 98162324], [98163998, 98164071], [98164165, 98164194], [98165881, 98165954], [98166048, 98166077], [98167751, 98167824], [98167914, 98167943], [98169630, 98169703], [98169805, 98169834], [98171522, 98171595], [98171688, 98171717], [98173399, 98173472], [98173566, 98173595], [98175261, 98175334], [98175428, 98175457], [98177127, 98177200], [98177294, 98177323], [98192841, 98192909], [98195368, 98195506], [98196924, 98197031], [98201406, 98201580], [98201746, 98201861], [98205987, 98206428]] [[98123504, 98123528], [98124026, 98124120], [98124457, 98124528], [98126043, 98126196], [98127600, 98128515], [98129642, 98129826], [98132194, 98132408], [98139788, 98139930], [98148773, 98148847], [98152762, 98152835], [98152930, 98152959], [98154630, 98154703], [98154797, 98154826], [98156496, 98156569], [98156663, 98156692], [98158373, 98158446], [98158541, 98158570], [98160252, 98160325], [98160419, 98160448], [98162128, 98162201], [98162295, 98162324], [98163998, 98164071], [98164165, 98164194], [98165881, 98165954], [98166048, 98166077], [98167751, 98167824], [98167914, 98167943], [98169630, 98169703], [98169805, 98169834], [98171522, 98171595], [98171688, 98171717], [98173399, 98173472], [98173566, 98173595], [98175261, 98175334], [98175428, 98175457], [98177127, 98177200], [98177294, 98177323], [98192841, 98192909], [98195368, 98195506], [98196924, 98197031], [98201406, 98201580], [98201746, 98201861], [98205987, 98206148]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I097751 97751515 97751703 0.38 [{'connected_gene': 'ZAP70', 'score': 13.6}, {'connected_gene': 'RNU4-8P', 'score': 10.76}, {'connected_gene': 'C2orf92', 'score': 10.76}, {'connected_gene': 'ACTR1B', 'score': 10.76}, {'connected_gene': 'VWA3B', 'score': 10.13}, {'connected_gene': 'TMEM131', 'score': 3.27}, {'connected_gene': 'ANKRD36B', 'score': 1.67}, {'connected_gene': 'HMGN1P36', 'score': 0.18}]
chr2 GH02I097712 97712403 97720047 2.07 [{'connected_gene': 'ZAP70', 'score': 588.02}, {'connected_gene': 'ANKRD36B', 'score': 24.23}, {'connected_gene': 'LMAN2L', 'score': 16.66}, {'connected_gene': 'UNC50', 'score': 15.92}, {'connected_gene': 'ACTR1B', 'score': 14.15}, {'connected_gene': 'ANKRD36', 'score': 13.08}, {'connected_gene': 'CNNM3', 'score': 11.55}, {'connected_gene': 'SEMA4C', 'score': 10.54}, {'connected_gene': 'TMEM131', 'score': 9.76}, {'connected_gene': 'FAHD2B', 'score': 7.66}, {'connected_gene': 'C2orf92', 'score': 6.92}, {'connected_gene': 'COX5B', 'score': 4.93}, {'connected_gene': 'ENSG00000235833', 'score': 4.09}, {'connected_gene': 'HMGN1P36', 'score': 0.14}]
chr2 GH02I097723 97723874 97723933 0.7 [{'connected_gene': 'ZAP70', 'score': 550.39}, {'connected_gene': 'ANKRD36B', 'score': 13.32}, {'connected_gene': 'COX5B', 'score': 10.99}, {'connected_gene': 'RNU4-8P', 'score': 10.64}, {'connected_gene': 'ACTR1B', 'score': 10.64}, {'connected_gene': 'C2orf92', 'score': 10.64}, {'connected_gene': 'HMGN1P36', 'score': 0.15}]
chr2 GH02I097660 97660310 97665277 2.28 [{'connected_gene': 'C2orf92', 'score': 555.77}, {'connected_gene': 'ACTR1B', 'score': 550.77}, {'connected_gene': 'GC02M097664', 'score': 550.77}, {'connected_gene': 'ANKRD36B', 'score': 33.17}, {'connected_gene': 'ZAP70', 'score': 23.05}, {'connected_gene': 'TMEM131', 'score': 10.75}, {'connected_gene': 'UNC50', 'score': 9.75}, {'connected_gene': 'LOC100506123', 'score': 7.87}, {'connected_gene': 'RNU4-8P', 'score': 0.77}, {'connected_gene': 'PIR38581', 'score': 0.37}]
chr2 GH02I097737 97737982 97738795 0.2 [{'connected_gene': 'ANKRD36B', 'score': 9.18}, {'connected_gene': 'ZAP70', 'score': 0.34}, {'connected_gene': 'HMGN1P36', 'score': 0.17}]
chr2 GH02I097740 97740541 97741127 1.24 [{'connected_gene': 'ANKRD36B', 'score': 7.58}, {'connected_gene': 'ZAP70', 'score': 0.31}, {'connected_gene': 'HMGN1P36', 'score': 0.17}]
chr2 GH02I097733 97733186 97734180 0.46 [{'connected_gene': 'ANKRD36B', 'score': 4.28}, {'connected_gene': 'ZAP70', 'score': 0.34}, {'connected_gene': 'HMGN1P36', 'score': 0.16}]
chr2 GH02I097697 97697001 97697605 1.02 [{'connected_gene': 'ANKRD36B', 'score': 4.18}, {'connected_gene': 'ZAP70', 'score': 0.37}, {'connected_gene': 'PIR53529', 'score': 0.34}, {'connected_gene': 'C2orf92', 'score': 0.29}]
chr2 GH02I097691 97691298 97691447 0.38 [{'connected_gene': 'ANKRD36B', 'score': 29.53}, {'connected_gene': 'PIR53529', 'score': 0.37}, {'connected_gene': 'ZAP70', 'score': 0.34}, {'connected_gene': 'C2orf92', 'score': 0.31}]
chr2 GH02I097759 97759180 97762318 0.58 [{'connected_gene': 'ANKRD36B', 'score': 13.87}, {'connected_gene': 'ZAP70', 'score': 11.86}, {'connected_gene': 'RNU4-8P', 'score': 10.74}, {'connected_gene': 'C2orf92', 'score': 10.74}, {'connected_gene': 'ACTR1B', 'score': 10.74}, {'connected_gene': 'VWA3B', 'score': 10.13}, {'connected_gene': 'LOC100506123', 'score': 6.6}, {'connected_gene': 'HMGN1P36', 'score': 0.2}, {'connected_gene': 'TMEM131', 'score': 0.07}]
chr2 GH02I097848 97848027 97850829 0.74 [{'connected_gene': 'ANKRD36B', 'score': 8.16}, {'connected_gene': 'C2orf92', 'score': 4.85}, {'connected_gene': 'TMEM131', 'score': 4.07}, {'connected_gene': 'GC02P097828', 'score': 0.34}, {'connected_gene': 'GC02M097914', 'score': 0.21}]
chr2 GH02I097588 97588600 97591567 1.97 [{'connected_gene': 'ANKRD36B', 'score': 597.48}, {'connected_gene': 'COX5B', 'score': 12.25}, {'connected_gene': 'RNU4-8P', 'score': 12.07}, {'connected_gene': 'ACTR1B', 'score': 12.07}, {'connected_gene': 'C2orf92', 'score': 12.07}, {'connected_gene': 'ZAP70', 'score': 12.0}, {'connected_gene': 'PIR49158', 'score': 0.44}]
chr2 GH02I097746 97746573 97749007 1.33 [{'connected_gene': 'ANKRD36B', 'score': 15.09}, {'connected_gene': 'ACTR1B', 'score': 8.52}, {'connected_gene': 'TMEM131', 'score': 5.75}, {'connected_gene': 'ZAP70', 'score': 5.19}, {'connected_gene': 'HMGN1P36', 'score': 0.18}]
chr2 GH02I096962 96962564 96963597 0.43 [{'connected_gene': 'ANKRD36B', 'score': 7.05}, {'connected_gene': 'ACTR1B', 'score': 6.51}, {'connected_gene': 'RNA5SP101', 'score': 0.44}, {'connected_gene': 'FAM178B', 'score': 0.34}]
chr2 GH02I096636 96636297 96639118 2.13 [{'connected_gene': 'KANSL3', 'score': 573.79}, {'connected_gene': 'SNRNP200', 'score': 32.95}, {'connected_gene': 'CNNM3', 'score': 11.98}, {'connected_gene': 'ANKRD36B', 'score': 10.6}, {'connected_gene': 'STARD7-AS1', 'score': 10.26}, {'connected_gene': 'LMAN2L', 'score': 10.17}, {'connected_gene': 'CIAO1', 'score': 6.42}, {'connected_gene': 'FER1L5', 'score': 0.44}, {'connected_gene': 'GC02P096595', 'score': 0.26}]
chr2 GH02I096866 96866249 96871522 2.24 [{'connected_gene': 'SEMA4C', 'score': 560.88}, {'connected_gene': 'ANKRD36', 'score': 10.54}, {'connected_gene': 'FAM178B', 'score': 5.95}, {'connected_gene': 'LMAN2L', 'score': 5.94}, {'connected_gene': 'SNRNP200', 'score': 5.58}, {'connected_gene': 'GPAT2P2', 'score': 4.86}, {'connected_gene': 'C2orf92', 'score': 4.57}, {'connected_gene': 'ANKRD36B', 'score': 4.55}, {'connected_gene': 'ANKRD39', 'score': 0.39}, {'connected_gene': 'GC02P096839', 'score': 0.31}]
chr2 GH02I096890 96890100 96894234 1.16 [{'connected_gene': 'FAM178B', 'score': 9.47}, {'connected_gene': 'ANKRD36B', 'score': 4.37}, {'connected_gene': 'FAHD2B', 'score': 4.17}, {'connected_gene': 'SEMA4C', 'score': 0.34}, {'connected_gene': 'LOC101927053', 'score': 0.31}]
chr2 GH02I096933 96933095 96935581 0.38 [{'connected_gene': 'FAM178B', 'score': 19.71}, {'connected_gene': 'FAHD2B', 'score': 10.15}, {'connected_gene': 'ANKRD36B', 'score': 5.38}, {'connected_gene': 'CNNM3', 'score': 4.68}, {'connected_gene': 'ENSG00000274206', 'score': 0.77}, {'connected_gene': 'LOC101927053', 'score': 0.37}]
chr2 GH02I096872 96872657 96878802 1.25 [{'connected_gene': 'ANKRD36', 'score': 11.22}, {'connected_gene': 'LOC100506076', 'score': 11.06}, {'connected_gene': 'FAM178B', 'score': 9.28}, {'connected_gene': 'SNRNP200', 'score': 7.28}, {'connected_gene': 'ANKRD36B', 'score': 6.37}, {'connected_gene': 'ZAP70', 'score': 6.19}, {'connected_gene': 'ENSG00000235833', 'score': 5.51}, {'connected_gene': 'SEMA4C', 'score': 0.77}, {'connected_gene': 'GC02P096839', 'score': 0.28}, {'connected_gene': 'LOC101927053', 'score': 0.26}]
chr2 GH02I097992 97992779 97997120 2.25 [{'connected_gene': 'TMEM131', 'score': 563.68}, {'connected_gene': 'ANKRD36B', 'score': 23.57}, {'connected_gene': 'UNC50', 'score': 15.92}, {'connected_gene': 'ANKRD36', 'score': 13.08}, {'connected_gene': 'ZAP70', 'score': 11.76}, {'connected_gene': 'ACTR1B', 'score': 7.29}, {'connected_gene': 'C2orf92', 'score': 4.79}, {'connected_gene': 'RNU7-96P', 'score': 0.18}]
chr2 GH02I097930 97930558 97932199 1.02 [{'connected_gene': 'TMEM131', 'score': 16.11}, {'connected_gene': 'ANKRD36B', 'score': 9.92}, {'connected_gene': 'RNU7-96P', 'score': 0.37}]
chr2 GH02I097867 97867524 97872744 1.4 [{'connected_gene': 'TMEM131', 'score': 16.46}, {'connected_gene': 'RNU7-96P', 'score': 12.49}, {'connected_gene': 'ZAP70', 'score': 10.88}, {'connected_gene': 'ANKRD36B', 'score': 8.13}, {'connected_gene': 'C2orf92', 'score': 4.04}, {'connected_gene': 'GC02M097914', 'score': 0.26}, {'connected_gene': 'GC02P097828', 'score': 0.26}]
chr2 GH02I097969 97969418 97970941 0.95 [{'connected_gene': 'TMEM131', 'score': 16.1}, {'connected_gene': 'RNU7-96P', 'score': 11.91}, {'connected_gene': 'VWA3B', 'score': 9.64}, {'connected_gene': 'ANKRD36B', 'score': 8.88}, {'connected_gene': 'C2orf92', 'score': 4.23}]
chr2 GH02I097944 97944011 97946278 0.46 [{'connected_gene': 'TMEM131', 'score': 16.25}, {'connected_gene': 'RNU7-96P', 'score': 11.98}, {'connected_gene': 'VWA3B', 'score': 10.01}, {'connected_gene': 'ANKRD36B', 'score': 7.69}]
chr2 GH02I097935 97935498 97936600 1.2 [{'connected_gene': 'TMEM131', 'score': 11.58}, {'connected_gene': 'LOC100506076', 'score': 9.73}, {'connected_gene': 'ANKRD36B', 'score': 9.08}, {'connected_gene': 'RNU7-96P', 'score': 0.34}]
chr2 GH02I096800 96800322 96801762 1.26 [{'connected_gene': 'SNRNP200', 'score': 35.73}, {'connected_gene': 'LMAN2L', 'score': 26.07}, {'connected_gene': 'KANSL3', 'score': 24.74}, {'connected_gene': 'SEMA4C', 'score': 19.57}, {'connected_gene': 'ANKRD36', 'score': 18.88}, {'connected_gene': 'CNNM4', 'score': 12.19}, {'connected_gene': 'CNNM3', 'score': 11.6}, {'connected_gene': 'ANKRD36B', 'score': 11.04}, {'connected_gene': 'STARD7-AS1', 'score': 10.73}, {'connected_gene': 'MIR3127', 'score': 0.77}, {'connected_gene': 'PIR40637', 'score': 0.44}]
chr2 GH02I096894 96894943 96896933 1.55 [{'connected_gene': 'SNRNP200', 'score': 19.25}, {'connected_gene': 'KANSL3', 'score': 13.93}, {'connected_gene': 'CIAO1', 'score': 12.35}, {'connected_gene': 'FAM178B', 'score': 12.27}, {'connected_gene': 'CNNM3', 'score': 11.21}, {'connected_gene': 'STARD7-AS1', 'score': 10.84}, {'connected_gene': 'ANKRD36B', 'score': 10.71}, {'connected_gene': 'FAHD2B', 'score': 8.95}, {'connected_gene': 'ACTR1B', 'score': 4.11}, {'connected_gene': 'LOC101927053', 'score': 0.34}, {'connected_gene': 'SEMA4C', 'score': 0.34}]
chr2 GH02I096977 96977380 96978293 1.06 [{'connected_gene': 'FAHD2B', 'score': 16.0}, {'connected_gene': 'ANKRD36B', 'score': 7.95}, {'connected_gene': 'FAM178B', 'score': 0.44}, {'connected_gene': 'RNA5SP101', 'score': 0.34}]
chr2 GH02I096963 96963663 96964979 0.66 [{'connected_gene': 'FAHD2B', 'score': 13.66}, {'connected_gene': 'ACTR1B', 'score': 7.07}, {'connected_gene': 'ANKRD36B', 'score': 7.05}, {'connected_gene': 'ITPRIPL1', 'score': 4.32}, {'connected_gene': 'RNA5SP101', 'score': 0.44}, {'connected_gene': 'FAM178B', 'score': 0.34}]
chr2 GH02I096967 96967770 96972109 0.59 [{'connected_gene': 'FAHD2B', 'score': 15.99}, {'connected_gene': 'ACTR1B', 'score': 7.16}, {'connected_gene': 'ANKRD36B', 'score': 7.08}, {'connected_gene': 'RNA5SP101', 'score': 0.39}, {'connected_gene': 'FAM178B', 'score': 0.37}]
chr2 GH02I096879 96879954 96889493 1.53 [{'connected_gene': 'ARID5A', 'score': 11.51}, {'connected_gene': 'FAM178B', 'score': 11.33}, {'connected_gene': 'ANKRD36', 'score': 11.23}, {'connected_gene': 'LOC100506076', 'score': 11.06}, {'connected_gene': 'SNRNP200', 'score': 7.27}, {'connected_gene': 'ZAP70', 'score': 5.95}, {'connected_gene': 'ANKRD36B', 'score': 4.37}, {'connected_gene': 'FAHD2B', 'score': 4.21}, {'connected_gene': 'KANSL3', 'score': 3.49}, {'connected_gene': 'CNNM4', 'score': 1.39}, {'connected_gene': 'SEMA4C', 'score': 0.39}, {'connected_gene': 'LOC101927053', 'score': 0.29}]
chr2 GH02I097979 97979429 97982100 0.31 [{'connected_gene': 'RNU7-96P', 'score': 11.27}, {'connected_gene': 'ZAP70', 'score': 10.68}, {'connected_gene': 'VWA3B', 'score': 9.91}, {'connected_gene': 'C2orf92', 'score': 4.86}, {'connected_gene': 'ANKRD36B', 'score': 4.6}, {'connected_gene': 'ANKRD36', 'score': 4.58}, {'connected_gene': 'TMEM131', 'score': 4.35}]
chr2 GH02I097605 97605801 97606200 0.2 [{'connected_gene': 'LOC105373499', 'score': 0.44}, {'connected_gene': 'ANKRD36B', 'score': 0.37}]
chr2 GH02I096916 96916198 96921493 1.17 [{'connected_gene': 'LOC101927053', 'score': 550.77}, {'connected_gene': 'SNRNP200', 'score': 37.72}, {'connected_gene': 'KANSL3', 'score': 24.75}, {'connected_gene': 'CNNM3', 'score': 19.78}, {'connected_gene': 'CIAO1', 'score': 17.43}, {'connected_gene': 'STARD7-AS1', 'score': 10.84}, {'connected_gene': 'ANKRD36B', 'score': 10.71}, {'connected_gene': 'LMAN2L', 'score': 10.5}, {'connected_gene': 'FAM178B', 'score': 9.31}, {'connected_gene': 'ZAP70', 'score': 5.32}, {'connected_gene': 'SEMA4C', 'score': 0.25}]
chr2 GH02I097725 97725336 97728887 1.08 [{'connected_gene': 'ACTR1B', 'score': 19.98}, {'connected_gene': 'C2orf92', 'score': 16.63}, {'connected_gene': 'COX5B', 'score': 10.99}, {'connected_gene': 'RNU4-8P', 'score': 10.83}, {'connected_gene': 'ANKRD36B', 'score': 9.52}, {'connected_gene': 'LOC100506123', 'score': 5.08}, {'connected_gene': 'ZAP70', 'score': 0.39}, {'connected_gene': 'HMGN1P36', 'score': 0.15}]
chr2 GH02I097619 97619113 97619911 0.46 [{'connected_gene': 'LOC100506123', 'score': 6.97}, {'connected_gene': 'ANKRD36B', 'score': 4.67}, {'connected_gene': 'LOC105373499', 'score': 0.44}, {'connected_gene': 'UBTFL6', 'score': 0.37}]
chr2 GH02I097673 97673121 97674379 1.26 [{'connected_gene': 'PIR32897', 'score': 550.77}, {'connected_gene': 'ANKRD36B', 'score': 33.25}, {'connected_gene': 'COX5B', 'score': 12.56}, {'connected_gene': 'ZAP70', 'score': 11.99}, {'connected_gene': 'FAHD2B', 'score': 7.47}, {'connected_gene': 'TMEM131', 'score': 2.2}, {'connected_gene': 'RNU4-8P', 'score': 0.44}, {'connected_gene': 'C2orf92', 'score': 0.44}]
chr2 GH02I097575 97575201 97575400 0.2 [{'connected_gene': 'PIR49158', 'score': 0.44}, {'connected_gene': 'ANKRD36B', 'score': 0.39}, {'connected_gene': 'ENSG00000235833', 'score': 0.23}]
chr2 GH02I096939 96939342 96941126 0.54 [{'connected_gene': 'ENSG00000274206', 'score': 550.77}, {'connected_gene': 'LOC100506123', 'score': 10.24}, {'connected_gene': 'FAHD2B', 'score': 9.2}, {'connected_gene': 'ANKRD36B', 'score': 3.98}, {'connected_gene': 'RNA5SP101', 'score': 0.37}, {'connected_gene': 'FAM178B', 'score': 0.25}]

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