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
ENST00000261749 [[80351909, 80352151], [80390757, 80390920], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80430735]] [[80412686, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80429970]]
ENST00000561060 [[80351954, 80352151], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80430020]] [[80412686, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80429970]]
ENST00000559157 [[80351976, 80352151], [80407368, 80407412], [80412669, 80412840], [80414089, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80430702]] [[80412686, 80412840], [80414089, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80429970]]
ENST00000561012 [[80352017, 80352151], [80390757, 80390920], [80403769, 80403901], [80405117, 80405196], [80412669, 80412746]] [[80403841, 80403901], [80405117, 80405196], [80412669, 80412746]]
ENST00000564367 [[80352031, 80352151], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80429821, 80429902]] [[80412686, 80412840], [80414053, 80414162], [80415041, 80415142], [80429821, 80429902]]
ENST00000558494 [[80352055, 80352151], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80430702]] [[80412686, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80429970]]
ENST00000560470 [[80352765, 80353082], [80390757, 80390920], [80412669, 80412747]] [[80412686, 80412747]]
ENST00000560228 [[80364905, 80364989], [80390757, 80390920], [80403769, 80403901], [80412669, 80412782]] [[80412686, 80412782]]
ENST00000559835 [[80364919, 80364989], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80430702]] [[80412686, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80429970]]
ENST00000559775 [[80364924, 80364989], [80390757, 80390920], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80430700]] [[80412686, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80429970]]
ENST00000558688 [[80364928, 80364989], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423859]] [[80412686, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423691]]
ENST00000560392 [[80364929, 80364989], [80365607, 80365672], [80390757, 80390920], [80412669, 80412840], [80414053, 80414162]] [[80412686, 80412840], [80414053, 80414162]]
ENST00000560976 [[80364929, 80364989], [80365607, 80365672], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423575]] [[80365641, 80365672], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423575]]
ENST00000558272 [[80364931, 80364989], [80367505, 80367657], [80390757, 80390920], [80412669, 80412840], [80414053, 80414092]] [[80412686, 80412840], [80414053, 80414092]]
ENST00000558390 [[80364931, 80364989], [80365607, 80365672], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423583]] [[80365641, 80365672], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423583]]
ENST00000557793 [[80364932, 80364989], [80412669, 80413144]] None
ENST00000558997 [[80367502, 80367584], [80390757, 80390920], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423636]] [[80412686, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423636]]
ENST00000558087 [[80367502, 80367584], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80430153]] [[80412686, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80429970]]
ENST00000558724 [[80367532, 80367657], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423636]] [[80367629, 80367657], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423636]]
ENST00000561017 [[80414060, 80414162], [80415041, 80415409]] None
ENST00000557983 [[80421941, 80423635], [80429821, 80430721]] None
NM_001242918 [[80351909, 80352151], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80429821, 80430735]] [[80412686, 80412840], [80414053, 80414162], [80415041, 80415142], [80429821, 80429970]]
NM_001242911 [[80351909, 80352151], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80430735]] [[80412686, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80429970]]
NM_001242917 [[80351909, 80352151], [80407368, 80407412], [80412669, 80412840], [80414089, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80430735]] [[80412686, 80412840], [80414089, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80429970]]
NM_019006 [[80351909, 80352151], [80390757, 80390920], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80430735]] [[80412686, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80429970]]
NM_001242912 [[80351909, 80352151], [80367505, 80367584], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80430735]] [[80412686, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80429970]]
NM_001242913 [[80352271, 80352305], [80367505, 80367584], [80390757, 80390920], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80430735]] [[80412686, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80429970]]
NM_001242914 [[80352501, 80352589], [80390757, 80390920], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80430735]] [[80412686, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80429970]]
NM_001242915 [[80364902, 80364989], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80430735]] [[80412686, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80429970]]
NM_001242916 [[80364902, 80364989], [80390757, 80390920], [80412669, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80430735]] [[80412686, 80412840], [80414053, 80414162], [80415041, 80415142], [80423521, 80423635], [80429821, 80429970]]
NM_001242919 [[80390757, 80390920], [80412669, 80412840], [80414053, 80414141], [80415101, 80415142], [80423521, 80423635], [80429821, 80430735]] [[80412686, 80412840], [80414053, 80414141], [80415101, 80415142], [80423521, 80423635], [80429821, 80429970]]
Promoter
Chrom Start End Description
chr15 80351933 80351947 CAGE_peak_5_at_ZFAND6_5end
chr15 80351980 80352061 CAGE_peak_1_at_ZFAND6_5end
chr15 80352070 80352097 CAGE_peak_2_at_ZFAND6_5end
chr15 80352249 80352286 CAGE_peak_4_at_ZFAND6_5end
chr15 80352456 80352465 CAGE_peak_10_at_ZFAND6_5end
chr15 80364901 80364920 CAGE_peak_3_at_ZFAND6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I080141 80141060 80141064 0.57 [{'connected_gene': 'BCL2A1', 'score': 7.61}, {'connected_gene': 'ZFAND6', 'score': 2.83}, {'connected_gene': 'GC15M080141', 'score': 0.77}, {'connected_gene': 'FAH', 'score': 0.39}]
chr15 GH15I079976 79976848 79982803 1.7 [{'connected_gene': 'BCL2A1', 'score': 20.58}, {'connected_gene': 'ST20', 'score': 7.43}, {'connected_gene': 'ZFAND6', 'score': 4.05}, {'connected_gene': 'LOC100420205', 'score': 0.77}]
chr15 GH15I079947 79947779 79948950 1.23 [{'connected_gene': 'BCL2A1', 'score': 22.91}, {'connected_gene': 'ST20', 'score': 11.52}, {'connected_gene': 'MTHFS', 'score': 5.82}, {'connected_gene': 'ZFAND6', 'score': 3.32}, {'connected_gene': 'GC15P079945', 'score': 0.77}]
chr15 GH15I080064 80064645 80064984 0.38 [{'connected_gene': 'BCL2A1', 'score': 10.69}, {'connected_gene': 'FAH', 'score': 6.66}, {'connected_gene': 'ZFAND6', 'score': 0.44}, {'connected_gene': 'GC15M080141', 'score': 0.19}]
chr15 GH15I079902 79902055 79902202 0.88 [{'connected_gene': 'BCL2A1', 'score': 21.73}, {'connected_gene': 'RNU6-667P', 'score': 9.83}, {'connected_gene': 'ZFAND6', 'score': 3.77}, {'connected_gene': 'ST20-MTHFS', 'score': 2.15}, {'connected_gene': 'ST20', 'score': 1.55}, {'connected_gene': 'MTHFS', 'score': 0.77}, {'connected_gene': 'GC15M079918', 'score': 0.37}]
chr15 GH15I079961 79961601 79962874 1.32 [{'connected_gene': 'BCL2A1', 'score': 25.0}, {'connected_gene': 'RNU6-667P', 'score': 9.8}, {'connected_gene': 'ZFAND6', 'score': 6.72}, {'connected_gene': 'ST20-MTHFS', 'score': 4.72}, {'connected_gene': 'MTHFS', 'score': 3.34}, {'connected_gene': 'ST20', 'score': 2.78}, {'connected_gene': 'GC15P079945', 'score': 0.37}]
chr15 GH15I079953 79953811 79956787 1.46 [{'connected_gene': 'BCL2A1', 'score': 12.19}, {'connected_gene': 'RNU6-667P', 'score': 9.54}, {'connected_gene': 'ST20', 'score': 6.34}, {'connected_gene': 'ZFAND6', 'score': 4.86}, {'connected_gene': 'GC15P079945', 'score': 0.39}]
chr15 GH15I079900 79900147 79900408 0.77 [{'connected_gene': 'BCL2A1', 'score': 45.91}, {'connected_gene': 'RNU6-667P', 'score': 9.83}, {'connected_gene': 'ST20-MTHFS', 'score': 6.16}, {'connected_gene': 'ZFAND6', 'score': 6.14}, {'connected_gene': 'MTHFS', 'score': 5.81}, {'connected_gene': 'ST20', 'score': 4.37}, {'connected_gene': 'GC15M079918', 'score': 0.34}]
chr15 GH15I079964 79964588 79972057 2.44 [{'connected_gene': 'BCL2A1', 'score': 581.6}, {'connected_gene': 'MTHFS', 'score': 14.06}, {'connected_gene': 'ST20-MTHFS', 'score': 13.86}, {'connected_gene': 'ST20', 'score': 9.84}, {'connected_gene': 'RNU6-667P', 'score': 9.8}, {'connected_gene': 'LOC101929560', 'score': 6.53}, {'connected_gene': 'ZFAND6', 'score': 5.85}, {'connected_gene': 'GC15P079945', 'score': 0.34}]
chr15 GH15I079973 79973401 79974206 1.24 [{'connected_gene': 'BCL2A1', 'score': 25.86}, {'connected_gene': 'ST20-MTHFS', 'score': 10.78}, {'connected_gene': 'MTHFS', 'score': 7.53}, {'connected_gene': 'ST20', 'score': 7.27}, {'connected_gene': 'ZFAND6', 'score': 4.48}, {'connected_gene': 'LOC100420205', 'score': 0.39}]
chr15 GH15I080491 80491186 80491515 0.62 [{'connected_gene': 'CEMIP', 'score': 10.75}, {'connected_gene': 'ARNT2', 'score': 10.16}, {'connected_gene': 'ZFAND6', 'score': 5.25}, {'connected_gene': 'GC15M080508', 'score': 0.37}, {'connected_gene': 'GC15P080469', 'score': 0.34}]
chr15 GH15I080473 80473201 80475382 1.02 [{'connected_gene': 'CEMIP', 'score': 11.34}, {'connected_gene': 'ARNT2', 'score': 10.36}, {'connected_gene': 'ZFAND6', 'score': 2.75}, {'connected_gene': 'GC15P080469', 'score': 0.77}, {'connected_gene': 'GC15M080508', 'score': 0.29}]
chr15 GH15I080031 80031470 80035287 1.13 [{'connected_gene': 'ZFAND6', 'score': 11.92}, {'connected_gene': 'BCL2A1', 'score': 10.88}, {'connected_gene': 'ST20', 'score': 7.35}, {'connected_gene': 'MTHFS', 'score': 6.43}, {'connected_gene': 'RASGRF1', 'score': 5.0}, {'connected_gene': 'ENSG00000279705', 'score': 0.37}, {'connected_gene': 'ENSG00000275460', 'score': 0.34}]
chr15 GH15I080058 80058532 80063520 2.03 [{'connected_gene': 'ZFAND6', 'score': 561.16}, {'connected_gene': 'BCL2A1', 'score': 10.7}, {'connected_gene': 'FAH', 'score': 9.76}, {'connected_gene': 'TLNRD1', 'score': 5.5}, {'connected_gene': 'GC15M080141', 'score': 0.18}]
chr15 GH15I080070 80070786 80073476 2.1 [{'connected_gene': 'ZFAND6', 'score': 560.78}, {'connected_gene': 'BCL2A1', 'score': 10.76}, {'connected_gene': 'FAH', 'score': 9.37}, {'connected_gene': 'GC15M080141', 'score': 0.2}]
chr15 GH15I080017 80017070 80019591 0.81 [{'connected_gene': 'ZFAND6', 'score': 11.64}, {'connected_gene': 'BCL2A1', 'score': 11.28}, {'connected_gene': 'RNU6-667P', 'score': 9.6}, {'connected_gene': 'ST20', 'score': 7.3}, {'connected_gene': 'ENSG00000279705', 'score': 0.77}, {'connected_gene': 'ENSG00000275460', 'score': 0.28}]
chr15 GH15I080008 80008763 80012675 0.98 [{'connected_gene': 'ZFAND6', 'score': 13.72}, {'connected_gene': 'BCL2A1', 'score': 13.42}, {'connected_gene': 'RNU6-667P', 'score': 10.23}, {'connected_gene': 'MTHFS', 'score': 7.0}, {'connected_gene': 'ST20', 'score': 6.95}, {'connected_gene': 'ENSG00000279705', 'score': 0.77}, {'connected_gene': 'ENSG00000279719', 'score': 0.34}]
chr15 GH15I080026 80026399 80026548 0.2 [{'connected_gene': 'ZFAND6', 'score': 11.1}, {'connected_gene': 'BCL2A1', 'score': 10.95}, {'connected_gene': 'ENSG00000279705', 'score': 0.39}, {'connected_gene': 'ENSG00000275460', 'score': 0.29}]
chr15 GH15I080075 80075031 80075090 0.73 [{'connected_gene': 'ZFAND6', 'score': 550.37}, {'connected_gene': 'BCL2A1', 'score': 10.11}, {'connected_gene': 'GC15M080141', 'score': 0.21}]
chr15 GH15I080178 80178659 80181027 1.02 [{'connected_gene': 'ZFAND6', 'score': 10.53}, {'connected_gene': 'FAH', 'score': 8.11}, {'connected_gene': 'CTXND1', 'score': 5.6}, {'connected_gene': 'GC15P080189', 'score': 0.44}, {'connected_gene': 'ENSG00000259967', 'score': 0.39}]
chr15 GH15I079993 79993366 79994000 0.98 [{'connected_gene': 'ZFAND6', 'score': 11.06}, {'connected_gene': 'RNU6-667P', 'score': 9.79}, {'connected_gene': 'ST20', 'score': 4.82}, {'connected_gene': 'ENSG00000279719', 'score': 0.77}, {'connected_gene': 'ENSG00000279705', 'score': 0.34}]
chr15 GH15I080173 80173419 80173588 1.04 [{'connected_gene': 'ZFAND6', 'score': 11.73}, {'connected_gene': 'RNU6-667P', 'score': 10.23}, {'connected_gene': 'FAH', 'score': 8.39}, {'connected_gene': 'ENSG00000259967', 'score': 0.44}, {'connected_gene': 'GC15P080189', 'score': 0.37}]
chr15 GH15I080536 80536237 80536442 0.42 [{'connected_gene': 'ZFAND6', 'score': 4.25}, {'connected_gene': 'GC15M080508', 'score': 0.31}, {'connected_gene': 'LOC101929586', 'score': 0.31}, {'connected_gene': 'ARNT2', 'score': 0.12}]
chr15 GH15I079994 79994779 79994928 0.49 [{'connected_gene': 'ZFAND6', 'score': 10.85}, {'connected_gene': 'ENSG00000279719', 'score': 0.77}, {'connected_gene': 'ENSG00000279705', 'score': 0.37}]
chr15 GH15I080035 80035319 80035468 0.38 [{'connected_gene': 'ZFAND6', 'score': 11.94}, {'connected_gene': 'ENSG00000279705', 'score': 0.34}, {'connected_gene': 'ENSG00000275460', 'score': 0.34}]
chr15 GH15I080081 80081157 80081945 0.54 [{'connected_gene': 'ZFAND6', 'score': 12.63}, {'connected_gene': 'GC15M080141', 'score': 0.22}]
chr15 GH15I080094 80094160 80094500 0.92 [{'connected_gene': 'ZFAND6', 'score': 0.29}, {'connected_gene': 'GC15M080141', 'score': 0.26}]
chr15 GH15I080093 80093899 80094148 0.92 [{'connected_gene': 'ZFAND6', 'score': 0.29}, {'connected_gene': 'GC15M080141', 'score': 0.26}]
chr15 GH15I080159 80159597 80163275 1.67 [{'connected_gene': 'FAH', 'score': 9.87}, {'connected_gene': 'BCL2A1', 'score': 3.7}, {'connected_gene': 'ZFAND6', 'score': 2.92}, {'connected_gene': 'ENSG00000259967', 'score': 0.77}]
chr15 GH15I080174 80173632 80175239 1.23 [{'connected_gene': 'FAH', 'score': 15.34}, {'connected_gene': 'ZFAND6', 'score': 11.73}, {'connected_gene': 'RNU6-667P', 'score': 10.23}, {'connected_gene': 'ENSG00000259967', 'score': 0.44}, {'connected_gene': 'GC15P080189', 'score': 0.39}]
chr15 GH15I080105 80105033 80106783 0.63 [{'connected_gene': 'FAH', 'score': 9.73}, {'connected_gene': 'GC15M080141', 'score': 0.29}, {'connected_gene': 'ZFAND6', 'score': 0.25}]
chr15 GH15I080151 80151605 80156685 2.27 [{'connected_gene': 'FAH', 'score': 561.86}, {'connected_gene': 'ENSG00000259649', 'score': 24.42}, {'connected_gene': 'ZFAND6', 'score': 10.61}, {'connected_gene': 'ENSG00000259967', 'score': 0.39}]
chr15 GH15I079952 79952406 79953799 0.78 [{'connected_gene': 'RNU6-667P', 'score': 9.54}, {'connected_gene': 'BCL2A1', 'score': 8.53}, {'connected_gene': 'ST20', 'score': 6.35}, {'connected_gene': 'ZFAND6', 'score': 3.53}, {'connected_gene': 'ST20-MTHFS', 'score': 1.47}, {'connected_gene': 'GC15P079945', 'score': 0.44}]
chr15 GH15I079894 79894481 79899998 2.28 [{'connected_gene': 'MTHFS', 'score': 587.4}, {'connected_gene': 'ST20', 'score': 31.93}, {'connected_gene': 'BCL2A1', 'score': 12.02}, {'connected_gene': 'ZFAND6', 'score': 10.73}, {'connected_gene': 'RNU6-667P', 'score': 10.08}, {'connected_gene': 'KIAA1024', 'score': 4.42}, {'connected_gene': 'ENSG00000279394', 'score': 0.37}, {'connected_gene': 'ST20-MTHFS', 'score': 0.31}]
chr15 GH15I079872 79872301 79873394 0.76 [{'connected_gene': 'MTHFS', 'score': 21.29}, {'connected_gene': 'ST20', 'score': 18.13}, {'connected_gene': 'BCL2A1', 'score': 15.78}, {'connected_gene': 'ZFAND6', 'score': 3.7}, {'connected_gene': 'ST20-MTHFS', 'score': 3.49}, {'connected_gene': 'GC15M079834', 'score': 0.44}, {'connected_gene': 'ENSG00000279394', 'score': 0.44}]
chr15 GH15I079883 79883085 79888497 0.87 [{'connected_gene': 'MTHFS', 'score': 37.44}, {'connected_gene': 'ST20', 'score': 18.1}, {'connected_gene': 'BCL2A1', 'score': 11.75}, {'connected_gene': 'RNU6-667P', 'score': 10.37}, {'connected_gene': 'ZFAND6', 'score': 10.23}, {'connected_gene': 'KIAA1024', 'score': 4.42}, {'connected_gene': 'ENSG00000279394', 'score': 0.44}, {'connected_gene': 'ST20-MTHFS', 'score': 0.28}]
chr15 GH15I079987 79987019 79991000 1.34 [{'connected_gene': 'ENSG00000279719', 'score': 550.77}, {'connected_gene': 'BCL2A1', 'score': 14.18}, {'connected_gene': 'RNU6-667P', 'score': 9.79}, {'connected_gene': 'ST20', 'score': 5.79}, {'connected_gene': 'TMED3', 'score': 4.45}, {'connected_gene': 'ZFAND6', 'score': 3.38}, {'connected_gene': 'LOC100420205', 'score': 0.77}]