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
ENST00000476620 [[37723445, 37723506], [37896875, 37896947], [37988441, 37988650], [37989801, 37990014]] [[37988478, 37988650], [37989801, 37989998]]
ENST00000559325 [[37960162, 37960810], [37988441, 37988650], [37989801, 37991540]] [[37960181, 37960810], [37988441, 37988650], [37989801, 37989998]]
ENST00000199448 [[37960162, 37960810], [37988441, 37988650], [37989801, 37991543]] [[37960541, 37960810], [37988441, 37988650], [37989801, 37989998]]
ENST00000423717 [[37960259, 37960810], [37989801, 37989888]] [[37960541, 37960810], [37989801, 37989805]]
ENST00000425345 [[37960921, 37961053], [37988441, 37988650], [37989801, 37990407]] [[37960967, 37961053], [37988441, 37988650], [37989801, 37989998]]
NM_001242946 [[37960162, 37960810], [37989801, 37991543]] [[37960541, 37960810], [37989801, 37989805]]
NM_017549 [[37960162, 37960810], [37988441, 37988650], [37989801, 37991543]] [[37960541, 37960810], [37988441, 37988650], [37989801, 37989998]]
NM_001242948 [[37960920, 37961053], [37988441, 37988650], [37989801, 37991543]] [[37960967, 37961053], [37988441, 37988650], [37989801, 37989998]]
Promoter
Chrom Start End Description
chr7 37723420 37723444 CAGE_peak_2_at_EPDR1_5end
chr7 37723450 37723461 CAGE_peak_13_at_EPDR1_5end
chr7 37960204 37960291 CAGE_peak_1_at_EPDR1_5end
chr7 37960295 37960310 CAGE_peak_5_at_EPDR1_5end
chr7 37960359 37960370 CAGE_peak_9_at_EPDR1_5end
chr7 37960377 37960389 CAGE_peak_7_at_EPDR1_5end
chr7 37960416 37960421 CAGE_peak_11_at_EPDR1_5end
chr7 37960422 37960438 CAGE_peak_4_at_EPDR1_5end
chr7 37960439 37960448 CAGE_peak_10_at_EPDR1_5end
chr7 37960465 37960476 CAGE_peak_6_at_EPDR1_5end
chr7 37960685 37960714 CAGE_peak_8_at_EPDR1_5end
chr7 37960719 37960767 CAGE_peak_3_at_EPDR1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I037693 37693401 37695807 1.09 [{'connected_gene': 'ELMO1', 'score': 9.84}, {'connected_gene': 'NME8', 'score': 8.02}, {'connected_gene': 'GPR141', 'score': 0.39}, {'connected_gene': 'EPDR1', 'score': 0.39}, {'connected_gene': 'LOC100420413', 'score': 0.15}]
chr7 GH07I037443 37443801 37450005 2.58 [{'connected_gene': 'ELMO1', 'score': 556.54}, {'connected_gene': 'GPR141', 'score': 13.72}, {'connected_gene': 'RNU6-565P', 'score': 11.31}, {'connected_gene': 'EPDR1', 'score': 8.95}, {'connected_gene': 'TRGV3', 'score': 4.15}, {'connected_gene': 'ENSG00000201566', 'score': 0.39}]
chr7 GH07I037406 37406401 37406600 0.66 [{'connected_gene': 'ELMO1', 'score': 17.98}, {'connected_gene': 'RNU6-565P', 'score': 11.84}, {'connected_gene': 'GPR141', 'score': 9.42}, {'connected_gene': 'EPDR1', 'score': 9.42}, {'connected_gene': 'GC07P037419', 'score': 0.39}, {'connected_gene': 'RPS10P14', 'score': 0.29}]
chr7 GH07I037408 37408078 37411599 1.04 [{'connected_gene': 'ELMO1', 'score': 18.05}, {'connected_gene': 'RNU6-565P', 'score': 11.84}, {'connected_gene': 'GPR141', 'score': 9.42}, {'connected_gene': 'EPDR1', 'score': 9.42}, {'connected_gene': 'GC07P037419', 'score': 0.44}, {'connected_gene': 'RPS10P14', 'score': 0.29}]
chr7 GH07I037818 37818056 37818315 0.4 [{'connected_gene': 'STARD3NL', 'score': 3.96}, {'connected_gene': 'ELMO1', 'score': 1.35}, {'connected_gene': 'ENSG00000225314', 'score': 0.77}, {'connected_gene': 'LOC100420413', 'score': 0.34}, {'connected_gene': 'GPR141', 'score': 0.12}, {'connected_gene': 'EPDR1', 'score': 0.12}]
chr7 GH07I037690 37689001 37692109 1.02 [{'connected_gene': 'STARD3NL', 'score': 8.52}, {'connected_gene': 'NME8', 'score': 8.02}, {'connected_gene': 'GPR141', 'score': 4.94}, {'connected_gene': 'ELMO1', 'score': 2.14}, {'connected_gene': 'EPDR1', 'score': 0.44}, {'connected_gene': 'LOC100420413', 'score': 0.14}]
chr7 GH07I037974 37974099 37974248 0.83 [{'connected_gene': 'SFRP4', 'score': 10.8}, {'connected_gene': 'STARD3NL', 'score': 9.55}, {'connected_gene': 'EPDR1', 'score': 8.06}, {'connected_gene': 'LOC105375236', 'score': 0.31}, {'connected_gene': 'NME8', 'score': 0.13}]
chr7 GH07I037941 37941494 37945790 1.18 [{'connected_gene': 'SFRP4', 'score': 15.6}, {'connected_gene': 'EPDR1', 'score': 9.27}, {'connected_gene': 'TRGC1', 'score': 5.25}, {'connected_gene': 'LOC105375236', 'score': 0.22}, {'connected_gene': 'NME8', 'score': 0.15}]
chr7 GH07I037915 37915857 37917828 1.87 [{'connected_gene': 'SFRP4', 'score': 550.14}, {'connected_gene': 'EPDR1', 'score': 12.09}, {'connected_gene': 'NME8', 'score': 0.2}, {'connected_gene': 'LOC105375236', 'score': 0.17}]
chr7 GH07I037902 37901623 37902928 0.96 [{'connected_gene': 'SFRP4', 'score': 19.25}, {'connected_gene': 'EPDR1', 'score': 14.97}, {'connected_gene': 'NME8', 'score': 0.23}, {'connected_gene': 'LOC105375236', 'score': 0.15}]
chr7 GH07I037928 37928501 37931270 0.58 [{'connected_gene': 'SFRP4', 'score': 16.22}, {'connected_gene': 'EPDR1', 'score': 15.16}, {'connected_gene': 'LOC105375236', 'score': 0.19}, {'connected_gene': 'NME8', 'score': 0.18}]
chr7 GH07I037999 37999188 38001158 0.4 [{'connected_gene': 'SFRP4', 'score': 12.13}, {'connected_gene': 'EPDR1', 'score': 8.84}, {'connected_gene': 'LOC105375236', 'score': 0.77}, {'connected_gene': 'NME8', 'score': 0.1}]
chr7 GH07I037988 37988779 37988948 0.4 [{'connected_gene': 'SFRP4', 'score': 11.24}, {'connected_gene': 'EPDR1', 'score': 8.85}, {'connected_gene': 'LOC105375236', 'score': 0.39}, {'connected_gene': 'NME8', 'score': 0.11}]
chr7 GH07I037923 37923993 37925632 0.2 [{'connected_gene': 'SFRP4', 'score': 16.18}, {'connected_gene': 'EPDR1', 'score': 14.97}, {'connected_gene': 'LOC105375236', 'score': 0.18}, {'connected_gene': 'NME8', 'score': 0.18}]
chr7 GH07I037932 37932619 37933929 0.2 [{'connected_gene': 'SFRP4', 'score': 10.72}, {'connected_gene': 'EPDR1', 'score': 8.89}, {'connected_gene': 'LOC105375236', 'score': 0.2}, {'connected_gene': 'NME8', 'score': 0.18}]
chr7 GH07I037986 37986095 37988721 0.94 [{'connected_gene': 'SFRP4', 'score': 11.24}, {'connected_gene': 'EPDR1', 'score': 8.28}, {'connected_gene': 'LOC105375236', 'score': 0.37}, {'connected_gene': 'NME8', 'score': 0.12}]
chr7 GH07I037981 37981593 37983418 0.38 [{'connected_gene': 'SFRP4', 'score': 11.08}, {'connected_gene': 'EPDR1', 'score': 8.03}, {'connected_gene': 'LOC105375236', 'score': 0.34}, {'connected_gene': 'NME8', 'score': 0.12}]
chr7 GH07I037907 37907539 37909002 0.2 [{'connected_gene': 'EPDR1', 'score': 25.06}, {'connected_gene': 'SFRP4', 'score': 9.02}, {'connected_gene': 'NME8', 'score': 0.22}, {'connected_gene': 'LOC105375236', 'score': 0.16}]
chr7 GH07I037901 37901401 37901600 0.84 [{'connected_gene': 'EPDR1', 'score': 14.46}, {'connected_gene': 'SFRP4', 'score': 10.51}, {'connected_gene': 'NME8', 'score': 0.23}, {'connected_gene': 'LOC105375236', 'score': 0.15}]
chr7 GH07I037663 37663193 37664400 0.86 [{'connected_gene': 'EPDR1', 'score': 11.97}, {'connected_gene': 'NME8', 'score': 6.13}, {'connected_gene': 'GPR141', 'score': 0.37}, {'connected_gene': 'NECAP1P1', 'score': 0.18}]
chr7 GH07I037920 37920039 37922785 1.95 [{'connected_gene': 'EPDR1', 'score': 564.01}, {'connected_gene': 'NME8', 'score': 0.19}, {'connected_gene': 'LOC105375236', 'score': 0.18}, {'connected_gene': 'SFRP4', 'score': 0.15}]
chr7 GH07I037689 37688601 37688800 0.4 [{'connected_gene': 'EPDR1', 'score': 0.77}, {'connected_gene': 'GPR141', 'score': 0.44}, {'connected_gene': 'LOC100420413', 'score': 0.14}]
chr7 GH07I038006 38006295 38008048 0.63 [{'connected_gene': 'EPDR1', 'score': 9.04}, {'connected_gene': 'LOC105375236', 'score': 0.77}, {'connected_gene': 'SFRP4', 'score': 0.37}]
chr7 GH07I037701 37701601 37702200 0.58 [{'connected_gene': 'NME8', 'score': 7.51}, {'connected_gene': 'GPR141', 'score': 0.37}, {'connected_gene': 'EPDR1', 'score': 0.37}, {'connected_gene': 'LOC100420413', 'score': 0.16}]
chr7 GH07I037703 37703001 37703600 0.4 [{'connected_gene': 'NME8', 'score': 7.26}, {'connected_gene': 'GPR141', 'score': 0.37}, {'connected_gene': 'EPDR1', 'score': 0.37}, {'connected_gene': 'LOC100420413', 'score': 0.16}]
chr7 GH07I037916 37915459 37915608 0.65 [{'connected_gene': 'NME8', 'score': 0.2}, {'connected_gene': 'LOC105375236', 'score': 0.17}, {'connected_gene': 'SFRP4', 'score': 0.14}, {'connected_gene': 'EPDR1', 'score': 0.07}]
chr7 GH07I037786 37786449 37787848 0.97 [{'connected_gene': 'NME8', 'score': 8.09}, {'connected_gene': 'LOC100420413', 'score': 0.44}, {'connected_gene': 'GPR141', 'score': 0.15}, {'connected_gene': 'EPDR1', 'score': 0.15}]
chr7 GH07I037704 37704307 37704706 0.58 [{'connected_gene': 'GPR141', 'score': 14.31}, {'connected_gene': 'ELMO1', 'score': 13.15}, {'connected_gene': 'EPDR1', 'score': 11.94}, {'connected_gene': 'STARD3NL', 'score': 1.77}, {'connected_gene': 'LOC100420413', 'score': 0.16}]
chr7 GH07I037736 37736301 37736421 0.22 [{'connected_gene': 'GPR141', 'score': 14.72}, {'connected_gene': 'ELMO1', 'score': 13.25}, {'connected_gene': 'EPDR1', 'score': 10.85}, {'connected_gene': 'NME8', 'score': 1.32}, {'connected_gene': 'LOC100420413', 'score': 0.22}]
chr7 GH07I037733 37733192 37733366 0.42 [{'connected_gene': 'GPR141', 'score': 15.22}, {'connected_gene': 'EPDR1', 'score': 10.86}, {'connected_gene': 'ELMO1', 'score': 9.73}, {'connected_gene': 'LOC100420413', 'score': 0.21}]
chr7 GH07I037765 37765219 37766928 1.16 [{'connected_gene': 'GPR141', 'score': 13.56}, {'connected_gene': 'EPDR1', 'score': 11.31}, {'connected_gene': 'STARD3NL', 'score': 8.39}, {'connected_gene': 'ELMO1', 'score': 1.64}, {'connected_gene': 'LOC100420413', 'score': 0.31}]
chr7 GH07I037682 37682565 37687800 1.39 [{'connected_gene': 'GPR141', 'score': 555.04}, {'connected_gene': 'EPDR1', 'score': 550.77}, {'connected_gene': 'ENSG00000201566', 'score': 9.52}, {'connected_gene': 'ENSG00000200113', 'score': 9.51}, {'connected_gene': 'NME8', 'score': 7.23}, {'connected_gene': 'STARD3NL', 'score': 6.84}, {'connected_gene': 'ELMO1', 'score': 6.84}, {'connected_gene': 'LOC100420413', 'score': 0.14}]
chr7 GH07I037643 37643458 37644368 0.51 [{'connected_gene': 'GPR141', 'score': 11.78}, {'connected_gene': 'EPDR1', 'score': 11.78}, {'connected_gene': 'NME8', 'score': 6.06}, {'connected_gene': 'NECAP1P1', 'score': 0.22}]
chr7 GH07I037645 37645201 37646056 0.4 [{'connected_gene': 'GPR141', 'score': 11.78}, {'connected_gene': 'EPDR1', 'score': 11.78}, {'connected_gene': 'NME8', 'score': 7.77}, {'connected_gene': 'NECAP1P1', 'score': 0.22}]
chr7 GH07I037706 37706001 37706200 0.69 [{'connected_gene': 'GPR141', 'score': 12.08}, {'connected_gene': 'EPDR1', 'score': 12.08}, {'connected_gene': 'NME8', 'score': 6.31}, {'connected_gene': 'LOC100420413', 'score': 0.17}]
chr7 GH07I037709 37709296 37716171 0.74 [{'connected_gene': 'GPR141', 'score': 12.06}, {'connected_gene': 'EPDR1', 'score': 12.06}, {'connected_gene': 'ENSG00000201566', 'score': 10.53}, {'connected_gene': 'ENSG00000200113', 'score': 10.53}, {'connected_gene': 'NME8', 'score': 7.2}, {'connected_gene': 'LOC100420413', 'score': 0.18}]
chr7 GH07I037728 37728514 37729748 1.07 [{'connected_gene': 'GPR141', 'score': 11.13}, {'connected_gene': 'EPDR1', 'score': 11.13}, {'connected_gene': 'NME8', 'score': 5.39}, {'connected_gene': 'LOC100420413', 'score': 0.2}]
chr7 GH07I037723 37723053 37726591 0.38 [{'connected_gene': 'GPR141', 'score': 11.38}, {'connected_gene': 'EPDR1', 'score': 11.38}, {'connected_gene': 'ENSG00000201566', 'score': 10.09}, {'connected_gene': 'ENSG00000200113', 'score': 10.09}, {'connected_gene': 'NME8', 'score': 5.32}, {'connected_gene': 'LOC100420413', 'score': 0.19}]
chr7 GH07I037732 37732001 37732800 1.11 [{'connected_gene': 'GPR141', 'score': 11.19}, {'connected_gene': 'EPDR1', 'score': 11.19}, {'connected_gene': 'NME8', 'score': 5.03}, {'connected_gene': 'LOC100420413', 'score': 0.21}]
chr7 GH07I037551 37551368 37552370 0.2 [{'connected_gene': 'GPR141', 'score': 9.7}, {'connected_gene': 'EPDR1', 'score': 9.7}, {'connected_gene': 'PIR41767', 'score': 0.39}, {'connected_gene': 'NECAP1P1', 'score': 0.29}]
chr7 GH07I037716 37716504 37722183 0.59 [{'connected_gene': 'GPR141', 'score': 11.79}, {'connected_gene': 'EPDR1', 'score': 11.79}, {'connected_gene': 'ENSG00000201566', 'score': 10.54}, {'connected_gene': 'ENSG00000200113', 'score': 10.53}, {'connected_gene': 'LOC100420413', 'score': 0.18}]
chr7 GH07I037688 37688201 37688400 0.4 [{'connected_gene': 'GPR141', 'score': 0.77}, {'connected_gene': 'EPDR1', 'score': 0.77}, {'connected_gene': 'LOC100420413', 'score': 0.14}]
chr7 GH07I037816 37816079 37816228 0.76 [{'connected_gene': 'GPR141', 'score': 10.94}, {'connected_gene': 'EPDR1', 'score': 10.94}, {'connected_gene': 'ENSG00000225314', 'score': 0.44}, {'connected_gene': 'LOC100420413', 'score': 0.34}]
chr7 GH07I037531 37531358 37531507 0.2 [{'connected_gene': 'GPR141', 'score': 10.26}, {'connected_gene': 'EPDR1', 'score': 10.26}, {'connected_gene': 'PIR41767', 'score': 0.44}, {'connected_gene': 'PIR62822', 'score': 0.22}]
chr7 GH07I037535 37535238 37535500 0.2 [{'connected_gene': 'GPR141', 'score': 10.62}, {'connected_gene': 'EPDR1', 'score': 10.62}, {'connected_gene': 'PIR41767', 'score': 0.77}, {'connected_gene': 'PIR62822', 'score': 0.21}]
chr7 GH07I037740 37740438 37740497 0.68 [{'connected_gene': 'GPR141', 'score': 550.22}, {'connected_gene': 'LOC100420413', 'score': 0.22}, {'connected_gene': 'EPDR1', 'score': 0.22}]
chr7 GH07I037438 37438599 37440183 0.52 [{'connected_gene': 'RNU6-565P', 'score': 10.87}, {'connected_gene': 'GPR141', 'score': 8.95}, {'connected_gene': 'EPDR1', 'score': 8.95}, {'connected_gene': 'ENSG00000201566', 'score': 0.77}, {'connected_gene': 'ELMO1', 'score': 0.39}]
chr7 GH07I037440 37440202 37442619 0.89 [{'connected_gene': 'RNU6-565P', 'score': 10.86}, {'connected_gene': 'GPR141', 'score': 8.95}, {'connected_gene': 'EPDR1', 'score': 8.95}, {'connected_gene': 'ENSG00000201566', 'score': 0.44}, {'connected_gene': 'ELMO1', 'score': 0.44}]
chr7 GH07I037832 37832279 37832600 0.84 [{'connected_gene': 'GC07M037823', 'score': 550.77}, {'connected_gene': 'ENSG00000201566', 'score': 10.27}, {'connected_gene': 'ENSG00000200113', 'score': 10.27}, {'connected_gene': 'ELMO1', 'score': 10.2}, {'connected_gene': 'NME8', 'score': 0.37}, {'connected_gene': 'GPR141', 'score': 0.11}, {'connected_gene': 'EPDR1', 'score': 0.11}]
chr7 GH07I037833 37833201 37833808 0.87 [{'connected_gene': 'ENSG00000201566', 'score': 10.27}, {'connected_gene': 'ENSG00000200113', 'score': 10.27}, {'connected_gene': 'ELMO1', 'score': 10.2}, {'connected_gene': 'NME8', 'score': 8.73}, {'connected_gene': 'GC07M037823', 'score': 0.77}, {'connected_gene': 'GPR141', 'score': 0.11}, {'connected_gene': 'EPDR1', 'score': 0.11}]
chr7 GH07I037476 37476490 37477141 0.31 [{'connected_gene': 'PIR62822', 'score': 550.77}, {'connected_gene': 'ELMO1', 'score': 12.43}, {'connected_gene': 'ENSG00000201566', 'score': 11.49}, {'connected_gene': 'ENSG00000200113', 'score': 11.45}, {'connected_gene': 'GPR141', 'score': 10.79}, {'connected_gene': 'EPDR1', 'score': 10.79}, {'connected_gene': 'PIR41767', 'score': 0.21}]
chr7 GH07I037477 37477198 37477347 0.2 [{'connected_gene': 'PIR62822', 'score': 550.77}, {'connected_gene': 'ELMO1', 'score': 12.43}, {'connected_gene': 'ENSG00000201566', 'score': 11.49}, {'connected_gene': 'ENSG00000200113', 'score': 11.45}, {'connected_gene': 'GPR141', 'score': 10.79}, {'connected_gene': 'EPDR1', 'score': 10.79}, {'connected_gene': 'PIR41767', 'score': 0.21}]
chr7 GH07I037548 37548934 37551001 0.76 [{'connected_gene': 'ENSG00000201566', 'score': 10.77}, {'connected_gene': 'ENSG00000200113', 'score': 10.75}, {'connected_gene': 'GPR141', 'score': 10.07}, {'connected_gene': 'EPDR1', 'score': 10.07}, {'connected_gene': 'PIR41767', 'score': 0.44}, {'connected_gene': 'NECAP1P1', 'score': 0.28}]

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