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
ENST00000461610 [[37723398, 37723506], [37725062, 37725186], [37868856, 37869074], [37873017, 37873390]] None
ENST00000450180 [[37723399, 37723506], [37724781, 37724901], [37725062, 37725186], [37779981, 37780307]] [[37779995, 37780307]]
ENST00000467202 [[37723468, 37723506], [37725062, 37725186], [37749319, 37749401], [37752943, 37753112]] None
ENST00000447769 [[37723474, 37723506], [37724781, 37724901], [37769517, 37769640], [37779981, 37780976]] [[37779995, 37780913]]
ENST00000334425 [[37779995, 37780913]] [[37779995, 37780913]]
NM_001329993 [[37723377, 37723506], [37725062, 37725186], [37769517, 37769640], [37779981, 37783423]] [[37779995, 37780913]]
NM_181791 [[37723377, 37723506], [37724781, 37724901], [37769517, 37769640], [37779981, 37783423]] [[37779995, 37780913]]
NM_001329994 [[37723377, 37723506], [37724781, 37724901], [37725062, 37725186], [37779981, 37783423]] [[37779995, 37780913]]
Promoter
Chrom Start End Description
chr7 37723336 37723410 CAGE_peak_1_at_GPR141_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 GH07I037590 37590863 37591181 0.7 [{'connected_gene': 'ELMO1', 'score': 17.06}, {'connected_gene': 'GPR141', 'score': 2.42}, {'connected_gene': 'NECAP1P1', 'score': 0.77}]
chr7 GH07I037598 37598912 37599128 0.27 [{'connected_gene': 'ELMO1', 'score': 57.23}, {'connected_gene': 'GPR141', 'score': 2.68}, {'connected_gene': 'NECAP1P1', 'score': 0.39}]
chr7 GH07I037351 37351328 37356169 2.09 [{'connected_gene': 'ELMO1', 'score': 587.57}, {'connected_gene': 'GPR141', 'score': 3.94}, {'connected_gene': 'RNU6-565P', 'score': 0.77}, {'connected_gene': 'RPS10P14', 'score': 0.34}]
chr7 GH07I037359 37359992 37360098 0.42 [{'connected_gene': 'ELMO1', 'score': 17.28}, {'connected_gene': 'ENSG00000200113', 'score': 11.72}, {'connected_gene': 'ENSG00000201566', 'score': 11.68}, {'connected_gene': 'GPR141', 'score': 3.46}, {'connected_gene': 'RNU6-565P', 'score': 0.44}, {'connected_gene': 'RPS10P14', 'score': 0.37}]
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 GH07I037335 37335625 37337043 1.39 [{'connected_gene': 'ELMO1', 'score': 2.25}, {'connected_gene': 'GPR141', 'score': 1.4}, {'connected_gene': 'RNU6-565P', 'score': 0.39}, {'connected_gene': 'PIR57066', 'score': 0.26}]
chr7 GH07I037281 37281859 37282292 0.46 [{'connected_gene': 'ELMO1', 'score': 1.96}, {'connected_gene': 'GPR141', 'score': 1.7}, {'connected_gene': 'PIR57066', 'score': 0.39}, {'connected_gene': 'RPS17P13', 'score': 0.1}]
chr7 GH07I037430 37430168 37431177 0.81 [{'connected_gene': 'ELMO1', 'score': 24.13}, {'connected_gene': 'GPR141', 'score': 6.1}, {'connected_gene': 'GC07P037436', 'score': 0.77}, {'connected_gene': 'ENSG00000200113', 'score': 0.39}]
chr7 GH07I037425 37425001 37426200 0.84 [{'connected_gene': 'ELMO1', 'score': 8.33}, {'connected_gene': 'GPR141', 'score': 1.98}, {'connected_gene': 'GC07P037436', 'score': 0.44}, {'connected_gene': 'ENSG00000200113', 'score': 0.44}]
chr7 GH07I037390 37390002 37393423 1.18 [{'connected_gene': 'ELMO1', 'score': 21.97}, {'connected_gene': 'ENSG00000200113', 'score': 13.17}, {'connected_gene': 'ENSG00000201566', 'score': 13.12}, {'connected_gene': 'RNU6-565P', 'score': 12.82}, {'connected_gene': 'GPR141', 'score': 4.35}, {'connected_gene': 'RPS10P14', 'score': 0.37}, {'connected_gene': 'GC07P037419', 'score': 0.31}]
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 GH07I037318 37318097 37319194 0.98 [{'connected_gene': 'ELMO1', 'score': 13.87}, {'connected_gene': 'RNU6-565P', 'score': 11.74}, {'connected_gene': 'GPR141', 'score': 3.03}, {'connected_gene': 'PIR57066', 'score': 0.31}]
chr7 GH07I037309 37309730 37312899 1.28 [{'connected_gene': 'ELMO1', 'score': 17.07}, {'connected_gene': 'RNU6-565P', 'score': 11.65}, {'connected_gene': 'ENSG00000200113', 'score': 11.09}, {'connected_gene': 'ENSG00000201566', 'score': 11.07}, {'connected_gene': 'GPR141', 'score': 1.35}, {'connected_gene': 'PIR57066', 'score': 0.37}]
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 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 GH07I037689 37688601 37688800 0.4 [{'connected_gene': 'EPDR1', 'score': 0.77}, {'connected_gene': 'GPR141', 'score': 0.44}, {'connected_gene': 'LOC100420413', 'score': 0.14}]
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 GH07I037659 37659054 37660898 0.52 [{'connected_gene': 'NME8', 'score': 6.89}, {'connected_gene': 'GPR141', 'score': 0.34}, {'connected_gene': 'NECAP1P1', 'score': 0.19}]
chr7 GH07I037661 37661463 37661987 0.38 [{'connected_gene': 'NME8', 'score': 7.01}, {'connected_gene': 'GPR141', 'score': 0.34}, {'connected_gene': 'NECAP1P1', 'score': 0.18}]
chr7 GH07I037671 37670988 37672756 0.2 [{'connected_gene': 'NME8', 'score': 6.94}, {'connected_gene': 'GPR141', 'score': 0.39}, {'connected_gene': 'NECAP1P1', 'score': 0.17}]
chr7 GH07I037664 37664602 37667674 1.29 [{'connected_gene': 'NME8', 'score': 12.83}, {'connected_gene': 'GPR141', 'score': 3.27}, {'connected_gene': 'NECAP1P1', 'score': 0.18}]
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 GH07I037595 37595674 37595684 0.22 [{'connected_gene': 'NECAP1P1', 'score': 0.44}, {'connected_gene': 'GPR141', 'score': 0.17}]
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 GH07I037330 37330897 37331189 0.34 [{'connected_gene': 'GPR141', 'score': 1.99}, {'connected_gene': 'ELMO1', 'score': 1.71}, {'connected_gene': 'RNU6-565P', 'score': 0.34}, {'connected_gene': 'PIR57066', 'score': 0.28}]
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 GH07I037674 37674201 37675800 1.02 [{'connected_gene': 'GPR141', 'score': 2.13}, {'connected_gene': 'NECAP1P1', 'score': 0.17}]
chr7 GH07I037670 37670451 37670783 0.25 [{'connected_gene': 'GPR141', 'score': 2.07}, {'connected_gene': 'NECAP1P1', 'score': 0.18}]
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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