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
ENST00000360184 [[102430864, 102431284], [102442048, 102442136], [102445655, 102445829], [102446055, 102446311], [102446700, 102446887], [102449355, 102449627], [102449718, 102449946], [102452023, 102453100], [102453789, 102453969], [102455039, 102455189], [102457863, 102458010], [102460520, 102460661], [102461009, 102461186], [102461322, 102461433], [102461517, 102461637], [102463371, 102463611], [102466325, 102466481], [102466622, 102466736], [102467290, 102467401], [102467481, 102467691], [102467871, 102468018], [102468873, 102469040], [102469128, 102469302], [102470854, 102471020], [102471098, 102471287], [102471378, 102471573], [102472224, 102472507], [102473344, 102473445], [102474514, 102474674], [102476179, 102476423], [102476612, 102476796], [102477076, 102477289], [102478211, 102478450], [102478650, 102478807], [102481441, 102481669], [102482192, 102482423], [102482685, 102482826], [102483102, 102483336], [102483424, 102483631], [102483719, 102483841], [102484787, 102484953], [102486229, 102486393], [102489087, 102489217], [102492910, 102493044], [102493510, 102493625], [102493719, 102493881], [102493955, 102494170], [102494273, 102494478], [102495875, 102496049], [102496155, 102496275], [102496498, 102496619], [102498608, 102498804], [102499401, 102499519], [102499605, 102499821], [102500312, 102500525], [102500661, 102500789], [102502825, 102502979], [102504796, 102504943], [102505034, 102505185], [102505337, 102505591], [102505748, 102505883], [102505974, 102506069], [102506572, 102506747], [102506934, 102507010], [102507910, 102508071], [102508349, 102508461], [102508564, 102508625], [102508720, 102508844], [102508971, 102509085], [102510211, 102510382], [102510610, 102510828], [102510931, 102511035], [102514153, 102514365], [102514852, 102515006], [102515776, 102515919], [102516050, 102516219], [102516407, 102516535], [102516771, 102517128]] [[102431028, 102431284], [102442048, 102442136], [102445655, 102445829], [102446055, 102446311], [102446700, 102446887], [102449355, 102449627], [102449718, 102449946], [102452023, 102453100], [102453789, 102453969], [102455039, 102455189], [102457863, 102458010], [102460520, 102460661], [102461009, 102461186], [102461322, 102461433], [102461517, 102461637], [102463371, 102463611], [102466325, 102466481], [102466622, 102466736], [102467290, 102467401], [102467481, 102467691], [102467871, 102468018], [102468873, 102469040], [102469128, 102469302], [102470854, 102471020], [102471098, 102471287], [102471378, 102471573], [102472224, 102472507], [102473344, 102473445], [102474514, 102474674], [102476179, 102476423], [102476612, 102476796], [102477076, 102477289], [102478211, 102478450], [102478650, 102478807], [102481441, 102481669], [102482192, 102482423], [102482685, 102482826], [102483102, 102483336], [102483424, 102483631], [102483719, 102483841], [102484787, 102484953], [102486229, 102486393], [102489087, 102489217], [102492910, 102493044], [102493510, 102493625], [102493719, 102493881], [102493955, 102494170], [102494273, 102494478], [102495875, 102496049], [102496155, 102496275], [102496498, 102496619], [102498608, 102498804], [102499401, 102499519], [102499605, 102499821], [102500312, 102500525], [102500661, 102500789], [102502825, 102502979], [102504796, 102504943], [102505034, 102505185], [102505337, 102505591], [102505748, 102505883], [102505974, 102506069], [102506572, 102506747], [102506934, 102507010], [102507910, 102508071], [102508349, 102508461], [102508564, 102508625], [102508720, 102508844], [102508971, 102509085], [102510211, 102510382], [102510610, 102510828], [102510931, 102511035], [102514153, 102514365], [102514852, 102515006], [102515776, 102515919], [102516050, 102516219], [102516407, 102516535], [102516771, 102516900]]
ENST00000555204 [[102486370, 102486393], [102489087, 102489217], [102492910, 102493044], [102493719, 102493785]] None
ENST00000554854 [[102493843, 102494170], [102494273, 102494478], [102495875, 102496049], [102496155, 102496170]] None
ENST00000556791 [[102499398, 102499519], [102499605, 102499821], [102500312, 102500525], [102500661, 102500789], [102502825, 102502979], [102503829, 102503935]] None
ENST00000553423 [[102500473, 102500525], [102500661, 102500789], [102502825, 102502979], [102505034, 102505185], [102505337, 102505391]] [[102500473, 102500525], [102500661, 102500789], [102502825, 102502979], [102505034, 102505185], [102505337, 102505391]]
ENST00000555800 [[102504716, 102504943], [102505034, 102505185], [102505337, 102505433]] None
ENST00000556139 [[102505827, 102506069], [102506572, 102506747], [102506934, 102507010], [102507910, 102508071], [102508349, 102508458]] None
ENST00000556499 [[102506724, 102506747], [102506934, 102507465]] None
ENST00000555102 [[102508733, 102508844], [102508971, 102509085], [102509698, 102510034]] None
ENST00000556229 [[102513997, 102514365], [102514852, 102515066]] None
ENST00000555062 [[102514097, 102514365], [102514852, 102515006], [102515776, 102516219], [102516407, 102516535], [102516771, 102517129]] None
NM_001376 [[102430864, 102431284], [102442048, 102442136], [102445655, 102445829], [102446055, 102446311], [102446700, 102446887], [102449355, 102449627], [102449718, 102449946], [102452023, 102453100], [102453789, 102453969], [102455039, 102455189], [102457863, 102458010], [102460520, 102460661], [102461009, 102461186], [102461322, 102461433], [102461517, 102461637], [102463371, 102463611], [102466325, 102466481], [102466622, 102466736], [102467290, 102467401], [102467481, 102467691], [102467871, 102468018], [102468873, 102469040], [102469128, 102469302], [102470854, 102471020], [102471098, 102471287], [102471378, 102471573], [102472224, 102472507], [102473344, 102473445], [102474514, 102474674], [102476179, 102476423], [102476612, 102476796], [102477076, 102477289], [102478211, 102478450], [102478650, 102478807], [102481441, 102481669], [102482192, 102482423], [102482685, 102482826], [102483102, 102483336], [102483424, 102483631], [102483719, 102483841], [102484787, 102484953], [102486229, 102486393], [102489087, 102489217], [102492910, 102493044], [102493510, 102493625], [102493719, 102493881], [102493955, 102494170], [102494273, 102494478], [102495875, 102496049], [102496155, 102496275], [102496498, 102496619], [102498608, 102498804], [102499401, 102499519], [102499605, 102499821], [102500312, 102500525], [102500661, 102500789], [102502825, 102502979], [102504796, 102504943], [102505034, 102505185], [102505337, 102505591], [102505748, 102505883], [102505974, 102506069], [102506572, 102506747], [102506934, 102507010], [102507910, 102508071], [102508349, 102508461], [102508564, 102508625], [102508720, 102508844], [102508971, 102509085], [102510211, 102510382], [102510610, 102510828], [102510931, 102511035], [102514153, 102514365], [102514852, 102515006], [102515776, 102515919], [102516050, 102516219], [102516407, 102516535], [102516771, 102517135]] [[102431028, 102431284], [102442048, 102442136], [102445655, 102445829], [102446055, 102446311], [102446700, 102446887], [102449355, 102449627], [102449718, 102449946], [102452023, 102453100], [102453789, 102453969], [102455039, 102455189], [102457863, 102458010], [102460520, 102460661], [102461009, 102461186], [102461322, 102461433], [102461517, 102461637], [102463371, 102463611], [102466325, 102466481], [102466622, 102466736], [102467290, 102467401], [102467481, 102467691], [102467871, 102468018], [102468873, 102469040], [102469128, 102469302], [102470854, 102471020], [102471098, 102471287], [102471378, 102471573], [102472224, 102472507], [102473344, 102473445], [102474514, 102474674], [102476179, 102476423], [102476612, 102476796], [102477076, 102477289], [102478211, 102478450], [102478650, 102478807], [102481441, 102481669], [102482192, 102482423], [102482685, 102482826], [102483102, 102483336], [102483424, 102483631], [102483719, 102483841], [102484787, 102484953], [102486229, 102486393], [102489087, 102489217], [102492910, 102493044], [102493510, 102493625], [102493719, 102493881], [102493955, 102494170], [102494273, 102494478], [102495875, 102496049], [102496155, 102496275], [102496498, 102496619], [102498608, 102498804], [102499401, 102499519], [102499605, 102499821], [102500312, 102500525], [102500661, 102500789], [102502825, 102502979], [102504796, 102504943], [102505034, 102505185], [102505337, 102505591], [102505748, 102505883], [102505974, 102506069], [102506572, 102506747], [102506934, 102507010], [102507910, 102508071], [102508349, 102508461], [102508564, 102508625], [102508720, 102508844], [102508971, 102509085], [102510211, 102510382], [102510610, 102510828], [102510931, 102511035], [102514153, 102514365], [102514852, 102515006], [102515776, 102515919], [102516050, 102516219], [102516407, 102516535], [102516771, 102516900]]
Promoter
Chrom Start End Description
chr14 102430855 102430894 CAGE_peak_3_at_DYNC1H1_5end
chr14 102430901 102430916 CAGE_peak_1_at_DYNC1H1_5end
chr14 102430930 102430969 CAGE_peak_2_at_DYNC1H1_5end
chr14 102476643 102476656 CAGE_peak_7_at_DYNC1H1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I101970 101970764 101974399 1.68 [{'connected_gene': 'WDR20', 'score': 10.1}, {'connected_gene': 'HSP90AA1', 'score': 10.1}, {'connected_gene': 'ENSG00000271780', 'score': 7.83}, {'connected_gene': 'ZNF839', 'score': 6.04}, {'connected_gene': 'DYNC1H1', 'score': 3.48}, {'connected_gene': 'PPP2R5C', 'score': 1.23}, {'connected_gene': 'ENSG00000259013', 'score': 0.77}, {'connected_gene': 'ENSG00000258959', 'score': 0.16}]
chr14 GH14I102043 102043379 102044072 0.2 [{'connected_gene': 'WDR20', 'score': 10.39}, {'connected_gene': 'HSP90AA1', 'score': 10.39}, {'connected_gene': 'ENSG00000258959', 'score': 0.34}, {'connected_gene': 'ENSG00000259013', 'score': 0.19}, {'connected_gene': 'DYNC1H1', 'score': 0.18}]
chr14 GH14I102234 102234801 102235896 1.55 [{'connected_gene': 'MOK', 'score': 24.27}, {'connected_gene': 'DYNC1H1', 'score': 11.09}, {'connected_gene': 'ENSG00000271780', 'score': 10.54}, {'connected_gene': 'ENSG00000272444', 'score': 10.42}, {'connected_gene': 'WDR20', 'score': 10.38}, {'connected_gene': 'HSP90AA1', 'score': 10.38}, {'connected_gene': 'RCOR1', 'score': 10.11}, {'connected_gene': 'GC14M102234', 'score': 0.77}, {'connected_gene': 'PIR59893', 'score': 0.34}]
chr14 GH14I102315 102315943 102323638 2.52 [{'connected_gene': 'ZNF839', 'score': 561.4}, {'connected_gene': 'ENSG00000271780', 'score': 30.08}, {'connected_gene': 'ENSG00000272444', 'score': 21.28}, {'connected_gene': 'CINP', 'score': 17.71}, {'connected_gene': 'TECPR2', 'score': 11.83}, {'connected_gene': 'MOK', 'score': 11.63}, {'connected_gene': 'CDC42BPB', 'score': 11.49}, {'connected_gene': 'DYNC1H1', 'score': 11.08}, {'connected_gene': 'WDR20', 'score': 10.89}, {'connected_gene': 'ENSG00000258959', 'score': 10.52}, {'connected_gene': 'RCOR1', 'score': 10.08}, {'connected_gene': 'TRI-AAT5-4', 'score': 0.77}, {'connected_gene': 'GC14P103291', 'score': 0.28}]
chr14 GH14I101555 101555194 101556098 0.82 [{'connected_gene': 'ZNF839', 'score': 23.05}, {'connected_gene': 'DYNC1H1', 'score': 20.36}, {'connected_gene': 'WDR20', 'score': 19.27}, {'connected_gene': 'DIO3OS', 'score': 18.84}, {'connected_gene': 'MEG8', 'score': 10.53}, {'connected_gene': 'ENSG00000272444', 'score': 10.41}, {'connected_gene': 'BEGAIN', 'score': 9.75}, {'connected_gene': 'ENSG00000258959', 'score': 9.69}, {'connected_gene': 'MIR1247', 'score': 0.77}, {'connected_gene': 'LOC105370674', 'score': 0.44}, {'connected_gene': 'GC14P103292', 'score': 0.34}]
chr14 GH14I101807 101807888 101830716 2.79 [{'connected_gene': 'PPP2R5C', 'score': 572.83}, {'connected_gene': 'WDR20', 'score': 13.87}, {'connected_gene': 'DYNC1H1', 'score': 12.71}, {'connected_gene': 'ENSG00000258919', 'score': 5.05}, {'connected_gene': 'ENSG00000259088', 'score': 0.44}, {'connected_gene': 'ENSG00000256705', 'score': 0.34}]
chr14 GH14I101873 101873544 101874253 1.11 [{'connected_gene': 'PPP2R5C', 'score': 14.16}, {'connected_gene': 'ENSG00000271780', 'score': 4.64}, {'connected_gene': 'DYNC1H1', 'score': 1.32}, {'connected_gene': 'WDR20', 'score': 1.13}, {'connected_gene': 'GC14P103276', 'score': 0.39}, {'connected_gene': 'NPM1P20', 'score': 0.31}]
chr14 GH14I101534 101534824 101536122 1 [{'connected_gene': 'PPP2R5C', 'score': 3.96}, {'connected_gene': 'DYNC1H1', 'score': 1.77}, {'connected_gene': 'GC14P103292', 'score': 0.77}, {'connected_gene': 'LOC105370673', 'score': 0.44}]
chr14 GH14I101961 101961184 101961672 1.29 [{'connected_gene': 'PPP2R5C', 'score': 11.29}, {'connected_gene': 'DYNC1H1', 'score': 0.77}, {'connected_gene': 'ENSG00000272444', 'score': 0.44}]
chr14 GH14I102522 102522988 102528999 1.82 [{'connected_gene': 'RCOR1', 'score': 49.82}, {'connected_gene': 'WDR20', 'score': 30.49}, {'connected_gene': 'TECPR2', 'score': 16.91}, {'connected_gene': 'MOK', 'score': 15.93}, {'connected_gene': 'ANKRD9', 'score': 15.78}, {'connected_gene': 'ZNF839', 'score': 14.99}, {'connected_gene': 'CDC42BPB', 'score': 14.46}, {'connected_gene': 'TRAF3', 'score': 13.41}, {'connected_gene': 'RNU6-244P', 'score': 11.28}, {'connected_gene': 'DYNC1H1', 'score': 11.05}, {'connected_gene': 'ENSG00000271780', 'score': 10.5}, {'connected_gene': 'CINP', 'score': 10.47}, {'connected_gene': 'ENSG00000272444', 'score': 10.39}, {'connected_gene': 'CKB', 'score': 10.0}, {'connected_gene': 'ENSG00000259775', 'score': 9.67}, {'connected_gene': 'LOC105370680', 'score': 0.44}, {'connected_gene': 'MIR4309', 'score': 0.39}]
chr14 GH14I102046 102046099 102047069 0.85 [{'connected_gene': 'RCOR1', 'score': 12.49}, {'connected_gene': 'WDR20', 'score': 12.4}, {'connected_gene': 'DYNC1H1', 'score': 5.6}, {'connected_gene': 'ENSG00000258959', 'score': 0.37}, {'connected_gene': 'ENSG00000259013', 'score': 0.18}]
chr14 GH14I102588 102588581 102595351 2.09 [{'connected_gene': 'RCOR1', 'score': 560.25}, {'connected_gene': 'ENSG00000271780', 'score': 23.78}, {'connected_gene': 'MOK', 'score': 22.2}, {'connected_gene': 'CDC42BPB', 'score': 21.78}, {'connected_gene': 'WDR20', 'score': 12.53}, {'connected_gene': 'KLC1', 'score': 12.36}, {'connected_gene': 'DYNC1H1', 'score': 11.06}, {'connected_gene': 'BAG5', 'score': 10.7}, {'connected_gene': 'ENSG00000272444', 'score': 10.39}, {'connected_gene': 'CKB', 'score': 10.0}, {'connected_gene': 'ENSG00000259775', 'score': 9.67}, {'connected_gene': 'LINC02323', 'score': 7.3}, {'connected_gene': 'GC14P103277', 'score': 0.77}]
chr14 GH14I102026 102026702 102030871 0.52 [{'connected_gene': 'DYNC1H1', 'score': 4.68}, {'connected_gene': 'ZNF839', 'score': 4.61}, {'connected_gene': 'HSP90AA1', 'score': 4.46}, {'connected_gene': 'ENSG00000258959', 'score': 0.28}, {'connected_gene': 'ENSG00000259013', 'score': 0.22}]
chr14 GH14I101962 101961900 101967877 2.42 [{'connected_gene': 'DYNC1H1', 'score': 555.68}, {'connected_gene': 'HSP90AA1', 'score': 14.75}, {'connected_gene': 'PPP2R5C', 'score': 10.74}, {'connected_gene': 'WDR20', 'score': 10.1}, {'connected_gene': 'ZNF839', 'score': 5.86}, {'connected_gene': 'ENSG00000259013', 'score': 0.77}]
chr14 GH14I101992 101992824 101992973 0.74 [{'connected_gene': 'DYNC1H1', 'score': 5.04}, {'connected_gene': 'ENSG00000259013', 'score': 0.34}, {'connected_gene': 'ENSG00000258959', 'score': 0.19}]
chr14 GH14I101926 101926316 101929643 1.01 [{'connected_gene': 'ENSG00000271780', 'score': 15.12}, {'connected_gene': 'DYNC1H1', 'score': 11.06}, {'connected_gene': 'PPP2R5C', 'score': 10.52}, {'connected_gene': 'GC14P103278', 'score': 0.34}, {'connected_gene': 'GC14P103276', 'score': 0.26}]
chr14 GH14I102019 102019595 102022153 0.43 [{'connected_gene': 'ENSG00000271780', 'score': 6.8}, {'connected_gene': 'DYNC1H1', 'score': 4.69}, {'connected_gene': 'HSP90AA1', 'score': 4.44}, {'connected_gene': 'ENSG00000258959', 'score': 0.25}, {'connected_gene': 'ENSG00000259013', 'score': 0.23}]
chr14 GH14I101979 101979520 101982245 1.23 [{'connected_gene': 'ENSG00000271780', 'score': 7.79}, {'connected_gene': 'DYNC1H1', 'score': 6.24}, {'connected_gene': 'ENSG00000259013', 'score': 0.39}, {'connected_gene': 'ENSG00000258959', 'score': 0.17}]
chr14 GH14I102049 102049359 102051182 0.46 [{'connected_gene': 'ENSG00000258959', 'score': 0.37}, {'connected_gene': 'ENSG00000259013', 'score': 0.18}, {'connected_gene': 'DYNC1H1', 'score': 0.17}]

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