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
ENST00000375499 [[17345216, 17345453], [17349102, 17349225], [17350467, 17350569], [17354243, 17354360], [17355094, 17355231], [17359554, 17359640], [17371255, 17371383], [17380442, 17380665]] [[17345375, 17345453], [17349102, 17349225], [17350467, 17350569], [17354243, 17354360], [17355094, 17355231], [17359554, 17359640], [17371255, 17371383], [17380442, 17380514]]
ENST00000485092 [[17345246, 17345453], [17349102, 17349531]] None
ENST00000475049 [[17345246, 17345453], [17349102, 17349225], [17349588, 17349655]] None
ENST00000485515 [[17349102, 17349225], [17350467, 17350569], [17354243, 17354360], [17355148, 17355231], [17359554, 17359640], [17371255, 17371383], [17380442, 17380502]] None
ENST00000491274 [[17350467, 17350569], [17354243, 17354360], [17355094, 17355231], [17359554, 17359640], [17371255, 17371383], [17371635, 17371714]] None
ENST00000475506 [[17354150, 17354360], [17355094, 17355231], [17359554, 17359640], [17371255, 17371372]] None
ENST00000463045 [[17354243, 17354360], [17355094, 17355231], [17359554, 17359640], [17371255, 17371383], [17378749, 17378983]] None
ENST00000466613 [[17359024, 17359640], [17371255, 17371383], [17380442, 17380526]] None
NM_003000 [[17345216, 17345453], [17349102, 17349225], [17350467, 17350569], [17354243, 17354360], [17355094, 17355231], [17359554, 17359640], [17371255, 17371383], [17380442, 17380665]] [[17345375, 17345453], [17349102, 17349225], [17350467, 17350569], [17354243, 17354360], [17355094, 17355231], [17359554, 17359640], [17371255, 17371383], [17380442, 17380514]]
Promoter
Chrom Start End Description
chr1 17349613 17349631 CAGE_peak_8_at_SDHB_5end
chr1 17349654 17349690 CAGE_peak_6_at_SDHB_5end
chr1 17380510 17380541 CAGE_peak_1_at_SDHB_5end
chr1 17380600 17380615 CAGE_peak_2_at_SDHB_5end
chr1 17380630 17380644 CAGE_peak_3_at_SDHB_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I016921 16921026 16922800 1.78 [{'connected_gene': 'CROCC', 'score': 550.09}, {'connected_gene': 'EIF1AXP1', 'score': 12.95}, {'connected_gene': 'RPL22P3', 'score': 12.38}, {'connected_gene': 'MFAP2', 'score': 10.88}, {'connected_gene': 'SDHB', 'score': 10.5}, {'connected_gene': 'FBXO42', 'score': 9.74}, {'connected_gene': 'LOC105376805', 'score': 7.15}, {'connected_gene': 'RCC2', 'score': 6.0}, {'connected_gene': 'MST1P2', 'score': 5.19}, {'connected_gene': 'GC01M016886', 'score': 0.77}, {'connected_gene': 'ENSG00000272426', 'score': 0.37}]
chr1 GH01I017111 17111300 17113205 0.49 [{'connected_gene': 'SDHB', 'score': 11.53}, {'connected_gene': 'CROCC', 'score': 4.5}, {'connected_gene': 'LOC105376805', 'score': 4.44}, {'connected_gene': 'PADI2', 'score': 0.44}, {'connected_gene': 'GC01M017106', 'score': 0.1}, {'connected_gene': 'GC01M017107', 'score': 0.1}]
chr1 GH01I016927 16927862 16928064 0.47 [{'connected_gene': 'SDHB', 'score': 10.52}, {'connected_gene': 'GC01M016886', 'score': 0.77}, {'connected_gene': 'PIR55831', 'score': 0.37}, {'connected_gene': 'CROCC', 'score': 0.09}]
chr1 GH01I016907 16907648 16908561 0.38 [{'connected_gene': 'SDHB', 'score': 10.88}, {'connected_gene': 'ENSG00000272426', 'score': 0.77}, {'connected_gene': 'GC01M016886', 'score': 0.37}, {'connected_gene': 'CROCC', 'score': 0.1}]
chr1 GH01I017125 17125602 17126599 1.25 [{'connected_gene': 'SDHB', 'score': 11.51}, {'connected_gene': 'PADI3', 'score': 11.31}, {'connected_gene': 'CROCC', 'score': 5.95}, {'connected_gene': 'PIR46847', 'score': 0.77}, {'connected_gene': 'LOC105376808', 'score': 0.44}, {'connected_gene': 'GC01M017106', 'score': 0.11}, {'connected_gene': 'GC01M017107', 'score': 0.11}]
chr1 GH01I017052 17052267 17054920 2.25 [{'connected_gene': 'SDHB', 'score': 550.77}, {'connected_gene': 'MFAP2', 'score': 13.16}, {'connected_gene': 'RPL22P3', 'score': 11.13}, {'connected_gene': 'ARHGEF19', 'score': 9.86}, {'connected_gene': 'ATP13A2', 'score': 0.26}]
chr1 GH01I017108 17108234 17111083 0.74 [{'connected_gene': 'SDHB', 'score': 11.53}, {'connected_gene': 'LOC400743', 'score': 7.18}, {'connected_gene': 'PADI2', 'score': 0.44}, {'connected_gene': 'GC01M017106', 'score': 0.1}, {'connected_gene': 'GC01M017107', 'score': 0.1}]
chr1 GH01I017048 17045703 17045709 0.4 [{'connected_gene': 'SDHB', 'score': 0.44}, {'connected_gene': 'ATP13A2', 'score': 0.29}]
chr1 GH01I017113 17113442 17113983 0.58 [{'connected_gene': 'SDHB', 'score': 11.53}, {'connected_gene': 'PADI2', 'score': 5.12}, {'connected_gene': 'GC01M017106', 'score': 0.1}, {'connected_gene': 'GC01M017107', 'score': 0.1}]
chr1 GH01I017055 17055146 17055295 0.38 [{'connected_gene': 'SDHB', 'score': 550.77}, {'connected_gene': 'PADI2', 'score': 0.21}]
chr1 GH01I016938 16938079 16940304 0.92 [{'connected_gene': 'SDHB', 'score': 11.62}, {'connected_gene': 'LOC105376805', 'score': 11.41}, {'connected_gene': 'ATP13A2', 'score': 11.32}, {'connected_gene': 'PADI2', 'score': 10.85}, {'connected_gene': 'CROCC', 'score': 8.62}, {'connected_gene': 'TRE-TTC3-1', 'score': 4.74}, {'connected_gene': 'PIR55831', 'score': 0.44}, {'connected_gene': 'GC01M016886', 'score': 0.39}]
chr1 GH01I017210 17210533 17213827 1.28 [{'connected_gene': 'PADI3', 'score': 11.75}, {'connected_gene': 'PADI2', 'score': 11.34}, {'connected_gene': 'SDHB', 'score': 10.79}, {'connected_gene': 'PADI4', 'score': 10.34}, {'connected_gene': 'PADI1', 'score': 0.44}, {'connected_gene': 'GC01M017106', 'score': 0.22}, {'connected_gene': 'GC01M017107', 'score': 0.22}]
chr1 GH01I017215 17215138 17215656 0.63 [{'connected_gene': 'PADI3', 'score': 11.77}, {'connected_gene': 'PADI2', 'score': 10.89}, {'connected_gene': 'SDHB', 'score': 10.79}, {'connected_gene': 'PADI4', 'score': 10.35}, {'connected_gene': 'MST1L', 'score': 4.68}, {'connected_gene': 'PADI1', 'score': 0.39}, {'connected_gene': 'GC01M017107', 'score': 0.23}, {'connected_gene': 'GC01M017106', 'score': 0.23}]
chr1 GH01I017289 17289324 17290243 0.43 [{'connected_gene': 'PADI3', 'score': 11.45}, {'connected_gene': 'PADI2', 'score': 10.77}, {'connected_gene': 'SDHB', 'score': 10.15}, {'connected_gene': 'PADI4', 'score': 8.18}, {'connected_gene': 'MIR3972', 'score': 0.39}]
chr1 GH01I017046 17045801 17046434 1.04 [{'connected_gene': 'MFAP2', 'score': 17.82}, {'connected_gene': 'SDHB', 'score': 0.44}, {'connected_gene': 'ATP13A2', 'score': 0.29}]
chr1 GH01I017045 17045175 17045600 0.4 [{'connected_gene': 'MFAP2', 'score': 17.82}, {'connected_gene': 'SDHB', 'score': 0.44}, {'connected_gene': 'ATP13A2', 'score': 0.29}]
chr1 GH01I017023 17023372 17024083 0.54 [{'connected_gene': 'MFAP2', 'score': 12.83}, {'connected_gene': 'SDHB', 'score': 11.76}, {'connected_gene': 'PADI2', 'score': 5.23}, {'connected_gene': 'ATP13A2', 'score': 0.39}]
chr1 GH01I017015 17015358 17017208 0.82 [{'connected_gene': 'MFAP2', 'score': 35.24}, {'connected_gene': 'PADI2', 'score': 24.21}, {'connected_gene': 'ENSG00000226526', 'score': 12.5}, {'connected_gene': 'SDHB', 'score': 11.3}, {'connected_gene': 'CROCC', 'score': 7.64}, {'connected_gene': 'ATP13A2', 'score': 0.77}]
chr1 GH01I017003 17003626 17004592 0.62 [{'connected_gene': 'MFAP2', 'score': 37.48}, {'connected_gene': 'ENSG00000226526', 'score': 12.78}, {'connected_gene': 'PADI2', 'score': 11.0}, {'connected_gene': 'SDHB', 'score': 10.93}, {'connected_gene': 'PADI4', 'score': 9.28}, {'connected_gene': 'ATP13A2', 'score': 0.44}, {'connected_gene': 'PIR43090', 'score': 0.39}]
chr1 GH01I017009 17009826 17009975 0.43 [{'connected_gene': 'MFAP2', 'score': 12.78}, {'connected_gene': 'ENSG00000226526', 'score': 12.76}, {'connected_gene': 'PADI2', 'score': 11.01}, {'connected_gene': 'SDHB', 'score': 10.96}, {'connected_gene': 'PADI4', 'score': 9.28}, {'connected_gene': 'ATP13A2', 'score': 0.77}, {'connected_gene': 'PIR43090', 'score': 0.37}]
chr1 GH01I017047 17047620 17048649 0.38 [{'connected_gene': 'MFAP2', 'score': 17.82}, {'connected_gene': 'LOC105376805', 'score': 10.62}, {'connected_gene': 'SDHB', 'score': 0.44}, {'connected_gene': 'ATP13A2', 'score': 0.28}]
chr1 GH01I017393 17393378 17393495 0.24 [{'connected_gene': 'PADI6', 'score': 35.5}, {'connected_gene': 'RCC2', 'score': 11.42}, {'connected_gene': 'PADI4', 'score': 11.09}, {'connected_gene': 'SDHB', 'score': 11.0}, {'connected_gene': 'PADI2', 'score': 10.77}, {'connected_gene': 'GC01P017391', 'score': 0.77}, {'connected_gene': 'GC01P017405', 'score': 0.39}]
chr1 GH01I017126 17126979 17130718 1.55 [{'connected_gene': 'PADI1', 'score': 11.71}, {'connected_gene': 'PADI3', 'score': 11.55}, {'connected_gene': 'SDHB', 'score': 11.51}, {'connected_gene': 'CROCC', 'score': 7.7}, {'connected_gene': 'PADI2', 'score': 5.11}, {'connected_gene': 'PADI4', 'score': 1.7}, {'connected_gene': 'PIR46847', 'score': 0.77}, {'connected_gene': 'LOC105376808', 'score': 0.44}, {'connected_gene': 'GC01M017107', 'score': 0.12}, {'connected_gene': 'GC01M017106', 'score': 0.12}]
chr1 GH01I016923 16923001 16923200 0.92 [{'connected_gene': 'EIF1AXP1', 'score': 12.95}, {'connected_gene': 'RPL22P3', 'score': 12.38}, {'connected_gene': 'MFAP2', 'score': 10.88}, {'connected_gene': 'SDHB', 'score': 10.5}, {'connected_gene': 'FBXO42', 'score': 9.75}, {'connected_gene': 'CROCCP3', 'score': 4.8}, {'connected_gene': 'GC01M016886', 'score': 0.77}, {'connected_gene': 'ENSG00000272426', 'score': 0.37}, {'connected_gene': 'CROCC', 'score': 0.09}]
chr1 GH01I017274 17274286 17274435 0.62 [{'connected_gene': 'PADI4', 'score': 11.99}, {'connected_gene': 'PADI3', 'score': 11.77}, {'connected_gene': 'SDHB', 'score': 11.11}, {'connected_gene': 'PADI2', 'score': 10.82}, {'connected_gene': 'MIR3972', 'score': 0.77}, {'connected_gene': 'GC01M017106', 'score': 0.44}, {'connected_gene': 'GC01M017107', 'score': 0.44}]
chr1 GH01I017027 17027246 17027350 0.36 [{'connected_gene': 'ATP13A2', 'score': 0.37}, {'connected_gene': 'SDHB', 'score': 0.31}]
chr1 GH01I017028 17027566 17027715 0.31 [{'connected_gene': 'ATP13A2', 'score': 0.37}, {'connected_gene': 'SDHB', 'score': 0.31}]
chr1 GH01I017013 17013986 17014135 0.79 [{'connected_gene': 'ATP13A2', 'score': 0.77}, {'connected_gene': 'SDHB', 'score': 0.26}]
chr1 GH01I017011 17011200 17013788 1.97 [{'connected_gene': 'ATP13A2', 'score': 550.77}, {'connected_gene': 'MFAP2', 'score': 32.66}, {'connected_gene': 'ARHGEF19', 'score': 18.2}, {'connected_gene': 'CROCC', 'score': 14.01}, {'connected_gene': 'CROCCP3', 'score': 13.51}, {'connected_gene': 'ENSG00000235241', 'score': 11.44}, {'connected_gene': 'RPL22P3', 'score': 11.14}, {'connected_gene': 'LINC01772', 'score': 11.08}, {'connected_gene': 'NBPF1', 'score': 10.56}, {'connected_gene': 'FBXO42', 'score': 9.85}, {'connected_gene': 'SDHB', 'score': 0.26}]
chr1 GH01I017206 17206802 17209863 1.62 [{'connected_gene': 'CROCCP3', 'score': 12.17}, {'connected_gene': 'PADI3', 'score': 11.48}, {'connected_gene': 'PADI2', 'score': 11.35}, {'connected_gene': 'CROCC', 'score': 10.95}, {'connected_gene': 'NBPF1', 'score': 10.74}, {'connected_gene': 'SDHB', 'score': 10.5}, {'connected_gene': 'LINC01772', 'score': 10.19}, {'connected_gene': 'PADI4', 'score': 10.05}, {'connected_gene': 'PADI1', 'score': 0.77}, {'connected_gene': 'GC01M017107', 'score': 0.22}, {'connected_gene': 'GC01M017106', 'score': 0.22}]
chr1 GH01I017224 17224262 17227371 0.73 [{'connected_gene': 'CROCCP3', 'score': 22.12}, {'connected_gene': 'LINC01772', 'score': 18.81}, {'connected_gene': 'CROCC', 'score': 13.71}, {'connected_gene': 'PADI3', 'score': 13.05}, {'connected_gene': 'PADI2', 'score': 11.52}, {'connected_gene': 'SDHB', 'score': 11.27}, {'connected_gene': 'PADI4', 'score': 10.93}, {'connected_gene': 'LOC105376805', 'score': 4.89}, {'connected_gene': 'PADI1', 'score': 0.34}, {'connected_gene': 'GC01M017107', 'score': 0.26}, {'connected_gene': 'GC01M017106', 'score': 0.26}]
chr1 GH01I017080 17080102 17084905 0.68 [{'connected_gene': 'PADI2', 'score': 30.34}, {'connected_gene': 'CROCC', 'score': 27.67}, {'connected_gene': 'MFAP2', 'score': 15.19}, {'connected_gene': 'SDHB', 'score': 12.31}, {'connected_gene': 'PADI4', 'score': 11.32}, {'connected_gene': 'PADI1', 'score': 10.92}]
chr1 GH01I017074 17074715 17076443 0.69 [{'connected_gene': 'PADI2', 'score': 36.86}, {'connected_gene': 'SDHB', 'score': 12.34}, {'connected_gene': 'PADI1', 'score': 10.72}, {'connected_gene': 'PADI4', 'score': 10.6}]
chr1 GH01I017117 17117402 17119347 0.74 [{'connected_gene': 'PADI2', 'score': 550.77}, {'connected_gene': 'SDHB', 'score': 0.21}, {'connected_gene': 'GC01M017106', 'score': 0.11}, {'connected_gene': 'GC01M017107', 'score': 0.11}]
chr1 GH01I017115 17115255 17115908 0.2 [{'connected_gene': 'PADI2', 'score': 0.77}, {'connected_gene': 'SDHB', 'score': 0.21}, {'connected_gene': 'GC01M017106', 'score': 0.1}, {'connected_gene': 'GC01M017107', 'score': 0.1}]
chr1 GH01I017106 17106819 17107629 0.31 [{'connected_gene': 'PADI2', 'score': 0.39}, {'connected_gene': 'SDHB', 'score': 0.23}, {'connected_gene': 'GC01M017106', 'score': 0.1}, {'connected_gene': 'GC01M017107', 'score': 0.1}]
chr1 GH01I017097 17090628 17090668 0.49 [{'connected_gene': 'PADI2', 'score': 0.31}, {'connected_gene': 'SDHB', 'score': 0.28}]
chr1 GH01I017095 17095292 17095861 0.31 [{'connected_gene': 'PADI2', 'score': 78.98}, {'connected_gene': 'SDHB', 'score': 0.26}]
chr1 GH01I017091 17091259 17091648 0.31 [{'connected_gene': 'PADI2', 'score': 19.95}, {'connected_gene': 'SDHB', 'score': 0.28}]
chr1 GH01I017093 17093792 17093959 0.2 [{'connected_gene': 'PADI2', 'score': 39.5}, {'connected_gene': 'SDHB', 'score': 0.28}]
chr1 GH01I017100 17100701 17104004 0.54 [{'connected_gene': 'PADI2', 'score': 90.48}, {'connected_gene': 'SDHB', 'score': 0.25}]
chr1 GH01I017092 17090682 17090821 0.31 [{'connected_gene': 'PADI2', 'score': 80.36}, {'connected_gene': 'SDHB', 'score': 0.28}]
chr1 GH01I017090 17090926 17091075 0.51 [{'connected_gene': 'PADI2', 'score': 0.31}, {'connected_gene': 'SDHB', 'score': 0.28}]
chr1 GH01I017089 17089875 17090315 0.2 [{'connected_gene': 'PADI2', 'score': 76.15}, {'connected_gene': 'SDHB', 'score': 0.28}]
chr1 GH01I017094 17094271 17095278 0.57 [{'connected_gene': 'PADI2', 'score': 78.58}, {'connected_gene': 'SDHB', 'score': 0.26}]
chr1 GH01I017063 17062001 17062200 0.63 [{'connected_gene': 'PADI2', 'score': 11.67}, {'connected_gene': 'PADI3', 'score': 11.18}, {'connected_gene': 'PADI4', 'score': 10.43}, {'connected_gene': 'SDHB', 'score': 0.44}]
chr1 GH01I017076 17076817 17077910 0.2 [{'connected_gene': 'PADI2', 'score': 37.56}, {'connected_gene': 'MFAP2', 'score': 14.81}, {'connected_gene': 'SDHB', 'score': 12.34}, {'connected_gene': 'PADI1', 'score': 10.72}, {'connected_gene': 'PADI4', 'score': 10.6}]
chr1 GH01I017066 17066201 17067600 0.69 [{'connected_gene': 'PADI2', 'score': 27.93}, {'connected_gene': 'MFAP2', 'score': 14.56}, {'connected_gene': 'PADI3', 'score': 10.89}, {'connected_gene': 'PADI4', 'score': 10.51}, {'connected_gene': 'CROCC', 'score': 6.36}, {'connected_gene': 'SDHB', 'score': 0.39}]
chr1 GH01I017059 17059346 17061800 1.39 [{'connected_gene': 'PADI2', 'score': 28.62}, {'connected_gene': 'MFAP2', 'score': 17.37}, {'connected_gene': 'PADI3', 'score': 11.18}, {'connected_gene': 'PADI4', 'score': 10.43}, {'connected_gene': 'SDHB', 'score': 0.44}]
chr1 GH01I017062 17062801 17064570 1.03 [{'connected_gene': 'PADI2', 'score': 27.5}, {'connected_gene': 'MFAP2', 'score': 14.4}, {'connected_gene': 'PADI3', 'score': 11.18}, {'connected_gene': 'PADI4', 'score': 10.43}, {'connected_gene': 'LOC100421279', 'score': 7.95}, {'connected_gene': 'CROCC', 'score': 5.01}, {'connected_gene': 'ENSG00000224174', 'score': 4.17}, {'connected_gene': 'SDHB', 'score': 0.44}]
chr1 GH01I017096 17096885 17100325 1.31 [{'connected_gene': 'PADI2', 'score': 104.87}, {'connected_gene': 'PADI4', 'score': 15.65}, {'connected_gene': 'CROCCP2', 'score': 4.6}, {'connected_gene': 'SDHB', 'score': 0.26}]
chr1 GH01I017087 17087661 17088644 0.56 [{'connected_gene': 'PADI2', 'score': 84.8}, {'connected_gene': 'PADI4', 'score': 11.32}, {'connected_gene': 'SDHB', 'score': 0.29}]
chr1 GH01I017088 17088844 17089719 0.43 [{'connected_gene': 'PADI2', 'score': 59.91}, {'connected_gene': 'PADI4', 'score': 11.33}, {'connected_gene': 'SDHB', 'score': 0.28}]
chr1 GH01I017086 17086706 17087239 0.2 [{'connected_gene': 'PADI2', 'score': 48.91}, {'connected_gene': 'PADI4', 'score': 11.32}, {'connected_gene': 'SDHB', 'score': 0.29}]
chr1 GH01I017085 17085010 17085168 0.71 [{'connected_gene': 'PADI2', 'score': 13.92}, {'connected_gene': 'PADI4', 'score': 11.32}, {'connected_gene': 'NBPF1', 'score': 1.63}, {'connected_gene': 'SDHB', 'score': 0.29}]
chr1 GH01I017121 17121282 17123316 1.27 [{'connected_gene': 'PIR46847', 'score': 550.77}, {'connected_gene': 'CROCC', 'score': 16.0}, {'connected_gene': 'CROCCP3', 'score': 14.42}, {'connected_gene': 'SDHB', 'score': 11.52}, {'connected_gene': 'PADI3', 'score': 11.31}, {'connected_gene': 'NBPF1', 'score': 10.78}, {'connected_gene': 'LINC01772', 'score': 10.44}, {'connected_gene': 'PADI2', 'score': 0.77}, {'connected_gene': 'GC01M017107', 'score': 0.11}, {'connected_gene': 'GC01M017106', 'score': 0.11}]
chr1 GH01I016928 16927506 16927655 0.58 [{'connected_gene': 'GC01M016886', 'score': 550.77}, {'connected_gene': 'SDHB', 'score': 10.52}, {'connected_gene': 'PIR55831', 'score': 0.37}, {'connected_gene': 'CROCC', 'score': 0.09}]
chr1 GH01I016925 16925080 16927437 0.89 [{'connected_gene': 'GC01M016886', 'score': 550.77}, {'connected_gene': 'SDHB', 'score': 10.52}, {'connected_gene': 'ESPNP', 'score': 5.1}, {'connected_gene': 'CROCCP2', 'score': 5.08}, {'connected_gene': 'ATP13A2', 'score': 4.61}, {'connected_gene': 'PIR55831', 'score': 0.37}, {'connected_gene': 'CROCC', 'score': 0.09}]
chr1 GH01I017007 17007266 17007415 0.38 [{'connected_gene': 'ENSG00000226526', 'score': 12.78}, {'connected_gene': 'MFAP2', 'score': 12.78}, {'connected_gene': 'PADI2', 'score': 11.01}, {'connected_gene': 'SDHB', 'score': 10.94}, {'connected_gene': 'PADI4', 'score': 9.28}, {'connected_gene': 'ATP13A2', 'score': 0.77}, {'connected_gene': 'PIR43090', 'score': 0.37}]

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