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
ENST00000588752 [[11981023, 11981204], [11999052, 11999186], [12009881, 12009986], [12012168, 12012214], [12014263, 12014372], [12028041, 12028117]] None
ENST00000589238 [[11981035, 11981129], [11999052, 11999186], [12009881, 12009986], [12012168, 12012214], [12014263, 12014372], [12028041, 12028150], [12028840, 12028992], [12030341, 12030515]] [[12028118, 12028150], [12028840, 12028992], [12030341, 12030457]]
ENST00000269159 [[11981426, 11981764], [11999052, 11999186], [12009881, 12009986], [12012168, 12012214], [12014263, 12014372], [12028041, 12028150], [12028840, 12028992], [12030341, 12030876]] [[11981668, 11981764], [11999052, 11999186], [12009881, 12009986], [12012168, 12012214], [12014263, 12014372], [12028041, 12028150], [12028840, 12028992], [12030341, 12030457]]
ENST00000590107 [[11981463, 11981764], [11999052, 11999186], [12009881, 12009986], [12012168, 12012348], [12014263, 12014372], [12028041, 12028150], [12028840, 12028992], [12030341, 12030867]] [[11981668, 11981764], [11999052, 11999186], [12009881, 12009986], [12012168, 12012325]]
ENST00000383376 [[11981514, 11981764], [11999052, 11999186], [12008331, 12008590], [12009881, 12009986], [12012168, 12012214], [12014263, 12014372], [12017612, 12018284]] [[11981668, 11981764], [11999052, 11999186], [12008331, 12008359]]
ENST00000590138 [[11981609, 11981764], [11999052, 11999186], [12009881, 12009986], [12014263, 12014372], [12028041, 12028150], [12028840, 12028992], [12030341, 12030472]] [[11981668, 11981764], [11999052, 11999186], [12009881, 12009986], [12014263, 12014279]]
ENST00000588927 [[11981668, 11981692], [11999060, 11999186], [12009881, 12009986], [12012168, 12012214], [12014263, 12014372], [12028041, 12028150], [12028840, 12028992], [12030341, 12030457]] [[12028118, 12028150], [12028840, 12028992], [12030341, 12030457]]
ENST00000588863 [[11999134, 11999186], [12009881, 12010220]] None
ENST00000588167 [[12009898, 12009986], [12012168, 12012214], [12014263, 12014372], [12028041, 12028683]] None
ENST00000586230 [[12009929, 12009986], [12012168, 12012214], [12014263, 12014372], [12021700, 12021821], [12028041, 12028150], [12028840, 12028961]] [[12009929, 12009986], [12012168, 12012214], [12014263, 12014372], [12021700, 12021821], [12028041, 12028087]]
ENST00000589374 [[12028606, 12028992], [12030341, 12030874]] None
NM_014214 [[11981426, 11981764], [11999052, 11999186], [12009881, 12009986], [12012168, 12012214], [12014263, 12014372], [12028041, 12028150], [12028840, 12028992], [12030341, 12030885]] [[11981668, 11981764], [11999052, 11999186], [12009881, 12009986], [12012168, 12012214], [12014263, 12014372], [12028041, 12028150], [12028840, 12028992], [12030341, 12030457]]
Promoter
Chrom Start End Description
chr18 11981014 11981035 CAGE_peak_4_at_IMPA2_5end
chr18 11981450 11981485 CAGE_peak_2_at_IMPA2_5end
chr18 11981487 11981533 CAGE_peak_1_at_IMPA2_5end
chr18 11981547 11981554 CAGE_peak_3_at_IMPA2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I012313 12313042 12318885 1.34 [{'connected_gene': 'TUBB6', 'score': 27.21}, {'connected_gene': 'AFG3L2', 'score': 11.19}, {'connected_gene': 'RNU7-129P', 'score': 10.23}, {'connected_gene': 'PRELID3A', 'score': 10.21}, {'connected_gene': 'IMPA2', 'score': 5.38}, {'connected_gene': 'CHMP1B', 'score': 1.8}]
chr18 GH18I012894 12894722 12895451 0.31 [{'connected_gene': 'CEP76', 'score': 10.3}, {'connected_gene': 'PSMG2', 'score': 10.28}, {'connected_gene': 'EIF4A2P1', 'score': 9.78}, {'connected_gene': 'IMPA2', 'score': 5.0}, {'connected_gene': 'LINC01882', 'score': 4.85}, {'connected_gene': 'GC18P012884', 'score': 0.39}, {'connected_gene': 'STK25P1', 'score': 0.37}, {'connected_gene': 'PTPN2', 'score': 0.29}]
chr18 GH18I011884 11884603 11886053 1.1 [{'connected_gene': 'MPPE1', 'score': 18.32}, {'connected_gene': 'CHMP1B', 'score': 12.09}, {'connected_gene': 'IMPA2', 'score': 10.57}, {'connected_gene': 'ENSG00000267199', 'score': 4.53}, {'connected_gene': 'PIR50553', 'score': 0.44}, {'connected_gene': 'ENSG00000273141', 'score': 0.34}, {'connected_gene': 'GNAL', 'score': 0.08}]
chr18 GH18I011882 11882604 11884360 1 [{'connected_gene': 'MPPE1', 'score': 12.78}, {'connected_gene': 'CHMP1B', 'score': 12.09}, {'connected_gene': 'IMPA2', 'score': 10.57}, {'connected_gene': 'PIR50553', 'score': 0.44}, {'connected_gene': 'ENSG00000273141', 'score': 0.31}, {'connected_gene': 'GNAL', 'score': 0.08}]
chr18 GH18I011999 11999172 12002640 0.77 [{'connected_gene': 'MPPE1', 'score': 11.0}, {'connected_gene': 'CHMP1B', 'score': 10.84}, {'connected_gene': 'IMPA2', 'score': 8.02}, {'connected_gene': 'ENSG00000266955', 'score': 0.44}, {'connected_gene': 'ENSG00000267480', 'score': 0.29}]
chr18 GH18I011997 11997685 11998950 0.83 [{'connected_gene': 'MPPE1', 'score': 11.01}, {'connected_gene': 'CHMP1B', 'score': 10.76}, {'connected_gene': 'IMPA2', 'score': 9.65}, {'connected_gene': 'ENSG00000266955', 'score': 0.77}, {'connected_gene': 'ENSG00000267480', 'score': 0.29}]
chr18 GH18I011907 11907322 11910209 2.22 [{'connected_gene': 'MPPE1', 'score': 561.78}, {'connected_gene': 'ENSG00000273141', 'score': 550.77}, {'connected_gene': 'IMPA2', 'score': 11.63}, {'connected_gene': 'CHMP1B', 'score': 10.72}]
chr18 GH18I011989 11989322 11989471 0.51 [{'connected_gene': 'MPPE1', 'score': 11.41}, {'connected_gene': 'IMPA2', 'score': 6.33}, {'connected_gene': 'ENSG00000266955', 'score': 0.44}]
chr18 GH18I011991 11990001 11990200 0.74 [{'connected_gene': 'MPPE1', 'score': 11.41}, {'connected_gene': 'ENSG00000266955', 'score': 0.77}, {'connected_gene': 'IMPA2', 'score': 0.44}]
chr18 GH18I011986 11986946 11988391 1 [{'connected_gene': 'MPPE1', 'score': 11.42}, {'connected_gene': 'IMPA2', 'score': 10.82}, {'connected_gene': 'ENSG00000266955', 'score': 0.44}]
chr18 GH18I011963 11963784 11965195 0.66 [{'connected_gene': 'MPPE1', 'score': 10.9}, {'connected_gene': 'IMPA2', 'score': 10.35}, {'connected_gene': 'GC18P012580', 'score': 0.44}]
chr18 GH18I011985 11985801 11986000 0.63 [{'connected_gene': 'MPPE1', 'score': 11.42}, {'connected_gene': 'IMPA2', 'score': 0.77}, {'connected_gene': 'ENSG00000266955', 'score': 0.44}]
chr18 GH18I011987 11986201 11986400 0.4 [{'connected_gene': 'MPPE1', 'score': 11.42}, {'connected_gene': 'IMPA2', 'score': 6.07}, {'connected_gene': 'ENSG00000266955', 'score': 0.44}]
chr18 GH18I011916 11916601 11917600 0.87 [{'connected_gene': 'MPPE1', 'score': 13.19}, {'connected_gene': 'LOC101927511', 'score': 12.68}, {'connected_gene': 'IMPA2', 'score': 11.29}, {'connected_gene': 'CHMP1B', 'score': 11.12}, {'connected_gene': 'GC18P012629', 'score': 0.77}, {'connected_gene': 'ENSG00000267661', 'score': 0.39}]
chr18 GH18I011976 11976345 11984290 2.46 [{'connected_gene': 'IMPA2', 'score': 563.99}, {'connected_gene': 'MPPE1', 'score': 23.14}, {'connected_gene': 'PTPN2', 'score': 12.71}, {'connected_gene': 'ENSG00000267249', 'score': 10.78}, {'connected_gene': 'PSMG2', 'score': 10.61}, {'connected_gene': 'GC18P012580', 'score': 0.34}]
chr18 GH18I012007 12007852 12014371 1.13 [{'connected_gene': 'IMPA2', 'score': 21.33}, {'connected_gene': 'MPPE1', 'score': 10.95}, {'connected_gene': 'CHMP1B', 'score': 10.79}, {'connected_gene': 'ENSG00000267733', 'score': 5.63}, {'connected_gene': 'LOC101927511', 'score': 4.81}, {'connected_gene': 'ENSG00000266955', 'score': 0.37}, {'connected_gene': 'ENSG00000267480', 'score': 0.34}]
chr18 GH18I011953 11953884 11958614 1.11 [{'connected_gene': 'IMPA2', 'score': 19.39}, {'connected_gene': 'MPPE1', 'score': 11.11}, {'connected_gene': 'CHMP1B', 'score': 9.73}, {'connected_gene': 'LOC101927511', 'score': 7.2}, {'connected_gene': 'GC18P012580', 'score': 0.77}]
chr18 GH18I012035 12035473 12035976 0.2 [{'connected_gene': 'IMPA2', 'score': 18.17}, {'connected_gene': 'MPPE1', 'score': 10.64}, {'connected_gene': 'CHMP1B', 'score': 9.81}, {'connected_gene': 'ENSG00000266995', 'score': 0.77}, {'connected_gene': 'ENSG00000267480', 'score': 0.77}]
chr18 GH18I012004 12004668 12007577 0.84 [{'connected_gene': 'IMPA2', 'score': 19.14}, {'connected_gene': 'MPPE1', 'score': 15.51}, {'connected_gene': 'CHMP1B', 'score': 10.83}, {'connected_gene': 'ENSG00000266955', 'score': 0.39}, {'connected_gene': 'ENSG00000267480', 'score': 0.31}]
chr18 GH18I012036 12036212 12037466 0.43 [{'connected_gene': 'IMPA2', 'score': 26.42}, {'connected_gene': 'MPPE1', 'score': 10.64}, {'connected_gene': 'CHMP1B', 'score': 9.81}, {'connected_gene': 'ENSG00000267480', 'score': 8.81}, {'connected_gene': 'ENSG00000266995', 'score': 0.77}]
chr18 GH18I012023 12023185 12023938 0.4 [{'connected_gene': 'IMPA2', 'score': 11.38}, {'connected_gene': 'MPPE1', 'score': 11.27}, {'connected_gene': 'CHMP1B', 'score': 11.21}, {'connected_gene': 'ENSG00000267480', 'score': 0.44}, {'connected_gene': 'ENSG00000266955', 'score': 0.31}]
chr18 GH18I011990 11990465 11991444 0.38 [{'connected_gene': 'IMPA2', 'score': 16.01}, {'connected_gene': 'MPPE1', 'score': 11.41}, {'connected_gene': 'CHMP1B', 'score': 10.22}, {'connected_gene': 'ENSG00000266955', 'score': 0.77}]
chr18 GH18I011992 11992057 11992994 0.2 [{'connected_gene': 'IMPA2', 'score': 12.03}, {'connected_gene': 'MPPE1', 'score': 11.18}, {'connected_gene': 'CHMP1B', 'score': 10.01}, {'connected_gene': 'ENSG00000266955', 'score': 0.77}]
chr18 GH18I011918 11918001 11918200 0.51 [{'connected_gene': 'IMPA2', 'score': 11.29}, {'connected_gene': 'CHMP1B', 'score': 11.12}, {'connected_gene': 'MPPE1', 'score': 7.32}, {'connected_gene': 'GC18P012629', 'score': 0.44}, {'connected_gene': 'ENSG00000267661', 'score': 0.39}, {'connected_gene': 'LOC101927511', 'score': 0.31}]
chr18 GH18I012024 12024360 12025175 0.2 [{'connected_gene': 'IMPA2', 'score': 25.38}, {'connected_gene': 'CHMP1B', 'score': 11.21}, {'connected_gene': 'MPPE1', 'score': 10.69}, {'connected_gene': 'LOC100996333', 'score': 5.31}, {'connected_gene': 'ENSG00000267480', 'score': 0.44}, {'connected_gene': 'ENSG00000266955', 'score': 0.31}]
chr18 GH18I012003 12003142 12004431 0.43 [{'connected_gene': 'IMPA2', 'score': 19.26}, {'connected_gene': 'CHMP1B', 'score': 10.83}, {'connected_gene': 'MPPE1', 'score': 10.47}, {'connected_gene': 'ENSG00000266955', 'score': 0.44}, {'connected_gene': 'ENSG00000267480', 'score': 0.31}]
chr18 GH18I012026 12026491 12028210 0.86 [{'connected_gene': 'IMPA2', 'score': 11.37}, {'connected_gene': 'CHMP1B', 'score': 11.21}, {'connected_gene': 'MPPE1', 'score': 10.69}, {'connected_gene': 'ENSG00000267480', 'score': 8.38}, {'connected_gene': 'ENSG00000266955', 'score': 0.29}]
chr18 GH18I011902 11902124 11903089 0.65 [{'connected_gene': 'IMPA2', 'score': 11.26}, {'connected_gene': 'CHMP1B', 'score': 11.12}, {'connected_gene': 'ENSG00000273141', 'score': 0.44}, {'connected_gene': 'MPPE1', 'score': 0.44}, {'connected_gene': 'PIR50553', 'score': 0.34}]
chr18 GH18I011899 11899015 11900079 0.2 [{'connected_gene': 'IMPA2', 'score': 11.25}, {'connected_gene': 'CHMP1B', 'score': 11.13}, {'connected_gene': 'ENSG00000273141', 'score': 0.44}, {'connected_gene': 'MPPE1', 'score': 0.44}, {'connected_gene': 'PIR50553', 'score': 0.34}]
chr18 GH18I011972 11972401 11973600 0.38 [{'connected_gene': 'IMPA2', 'score': 9.49}, {'connected_gene': 'GC18P012580', 'score': 0.39}]
chr18 GH18I011750 11750618 11752882 1.16 [{'connected_gene': 'GNAL', 'score': 557.88}, {'connected_gene': 'CHMP1B', 'score': 11.59}, {'connected_gene': 'MPPE1', 'score': 10.34}, {'connected_gene': 'IMPA2', 'score': 10.09}, {'connected_gene': 'GC18P012628', 'score': 0.44}, {'connected_gene': 'ASNSP6', 'score': 0.44}]
chr18 GH18I011945 11945771 11949588 1.59 [{'connected_gene': 'LOC101927511', 'score': 570.7}, {'connected_gene': 'CHMP1B', 'score': 9.73}, {'connected_gene': 'IMPA2', 'score': 5.66}, {'connected_gene': 'ENSG00000267661', 'score': 0.37}]
chr18 GH18I012014 12014481 12016441 1.08 [{'connected_gene': 'LOC101927511', 'score': 4.87}, {'connected_gene': 'ENSG00000267480', 'score': 0.37}, {'connected_gene': 'ENSG00000266955', 'score': 0.34}, {'connected_gene': 'IMPA2', 'score': 0.29}]
chr18 GH18I011942 11942398 11944223 0.49 [{'connected_gene': 'LOC101927511', 'score': 19.18}, {'connected_gene': 'ENSG00000267249', 'score': 10.78}, {'connected_gene': 'IMPA2', 'score': 6.07}, {'connected_gene': 'ENSG00000267661', 'score': 0.39}]
chr18 GH18I011951 11951142 11951933 0.85 [{'connected_gene': 'LOC101927511', 'score': 12.0}, {'connected_gene': 'ENSG00000267249', 'score': 10.78}, {'connected_gene': 'IMPA2', 'score': 5.43}, {'connected_gene': 'GC18P012580', 'score': 0.44}]
chr18 GH18I012038 12038084 12039711 1.36 [{'connected_gene': 'ENSG00000266995', 'score': 550.77}, {'connected_gene': 'IMPA2', 'score': 23.4}, {'connected_gene': 'ENSG00000267733', 'score': 15.23}, {'connected_gene': 'MPPE1', 'score': 10.64}, {'connected_gene': 'CHMP1B', 'score': 9.81}, {'connected_gene': 'ENSG00000267480', 'score': 7.98}, {'connected_gene': 'ENSG00000267247', 'score': 4.39}]
chr18 GH18I012031 12031942 12032131 0.4 [{'connected_gene': 'ENSG00000267480', 'score': 550.77}, {'connected_gene': 'IMPA2', 'score': 11.04}, {'connected_gene': 'MPPE1', 'score': 10.88}, {'connected_gene': 'CHMP1B', 'score': 10.01}, {'connected_gene': 'ENSG00000266955', 'score': 0.28}]
chr18 GH18I012032 12032812 12033600 0.78 [{'connected_gene': 'ENSG00000267480', 'score': 559.37}, {'connected_gene': 'IMPA2', 'score': 25.55}, {'connected_gene': 'MPPE1', 'score': 10.88}, {'connected_gene': 'CHMP1B', 'score': 10.01}, {'connected_gene': 'ENSG00000266995', 'score': 0.44}]
chr18 GH18I011993 11993043 11997262 1.53 [{'connected_gene': 'ENSG00000266955', 'score': 550.77}, {'connected_gene': 'IMPA2', 'score': 14.12}, {'connected_gene': 'MPPE1', 'score': 11.17}, {'connected_gene': 'CHMP1B', 'score': 10.01}, {'connected_gene': 'ENSG00000267480', 'score': 0.28}]
chr18 GH18I012048 12048529 12049551 0.51 [{'connected_gene': 'ENSG00000267292', 'score': 550.77}, {'connected_gene': 'GC18P012630', 'score': 550.77}, {'connected_gene': 'ENSG00000267733', 'score': 35.47}, {'connected_gene': 'IMPA2', 'score': 11.07}, {'connected_gene': 'MPPE1', 'score': 10.36}, {'connected_gene': 'ENSG00000266995', 'score': 0.44}]
chr18 GH18I012041 12041125 12042381 0.43 [{'connected_gene': 'ENSG00000266995', 'score': 550.77}, {'connected_gene': 'ENSG00000267733', 'score': 15.67}, {'connected_gene': 'IMPA2', 'score': 12.43}, {'connected_gene': 'MPPE1', 'score': 10.64}, {'connected_gene': 'GC18P012630', 'score': 0.44}]
chr18 GH18I012049 12049801 12051174 0.9 [{'connected_gene': 'ENSG00000267292', 'score': 550.77}, {'connected_gene': 'GC18P012630', 'score': 550.77}, {'connected_gene': 'ENSG00000267733', 'score': 35.04}, {'connected_gene': 'IMPA2', 'score': 11.07}, {'connected_gene': 'MPPE1', 'score': 10.35}]
chr18 GH18I011927 11927622 11927771 0.2 [{'connected_gene': 'ENSG00000267661', 'score': 550.77}, {'connected_gene': 'IMPA2', 'score': 11.62}, {'connected_gene': 'GC18P012629', 'score': 0.37}, {'connected_gene': 'LOC101927511', 'score': 0.34}]
chr18 GH18I012020 12020769 12022062 0.7 [{'connected_gene': 'ENSG00000267480', 'score': 0.39}, {'connected_gene': 'ENSG00000266955', 'score': 0.31}, {'connected_gene': 'IMPA2', 'score': 0.26}]
chr18 GH18I012022 12022095 12022528 0.2 [{'connected_gene': 'ENSG00000267480', 'score': 0.44}, {'connected_gene': 'ENSG00000266955', 'score': 0.31}, {'connected_gene': 'IMPA2', 'score': 0.26}]
chr18 GH18I012017 12017034 12017518 0.31 [{'connected_gene': 'ENSG00000267480', 'score': 0.39}, {'connected_gene': 'ENSG00000266955', 'score': 0.34}, {'connected_gene': 'IMPA2', 'score': 0.28}]

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