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
ENST00000288025 [[69377150, 69377543], [69381690, 69381839], [69383427, 69383554], [69385443, 69385712]] [[69377309, 69377543], [69381690, 69381839], [69383427, 69383554], [69385443, 69385656]]
ENST00000568748 [[69377391, 69377543], [69381690, 69382312]] None
NM_144676 [[69377148, 69377543], [69381690, 69381839], [69383427, 69383554], [69385443, 69385712]] [[69377309, 69377543], [69381690, 69381839], [69383427, 69383554], [69385443, 69385656]]
Promoter
Chrom Start End Description
chr16 69385681 69385694 CAGE_peak_1_at_TMED6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I069476 69476135 69478399 1.24 [{'connected_gene': 'UTP4', 'score': 16.01}, {'connected_gene': 'CYB5B', 'score': 15.76}, {'connected_gene': 'NFAT5', 'score': 11.39}, {'connected_gene': 'MIR1538', 'score': 11.39}, {'connected_gene': 'WWP2', 'score': 9.41}, {'connected_gene': 'ENSG00000252443', 'score': 9.41}, {'connected_gene': 'SNTB2', 'score': 5.23}, {'connected_gene': 'TMED6', 'score': 4.28}, {'connected_gene': 'GC16P069486', 'score': 0.44}, {'connected_gene': 'ENSG00000260108', 'score': 0.39}]
chr16 GH16I069274 69274667 69278302 0.8 [{'connected_gene': 'UTP4', 'score': 20.06}, {'connected_gene': 'SNTB2', 'score': 14.56}, {'connected_gene': 'TMED6', 'score': 9.48}, {'connected_gene': 'CLEC18C', 'score': 3.9}, {'connected_gene': 'PIR50286', 'score': 0.39}, {'connected_gene': 'LOC100421641', 'score': 0.39}]
chr16 GH16I069253 69253262 69255041 0.31 [{'connected_gene': 'UTP4', 'score': 20.07}, {'connected_gene': 'SNTB2', 'score': 14.28}, {'connected_gene': 'TMED6', 'score': 4.77}, {'connected_gene': 'GC16M069246', 'score': 0.44}, {'connected_gene': 'LOC100421641', 'score': 0.39}]
chr16 GH16I069165 69165454 69168267 0.57 [{'connected_gene': 'UTP4', 'score': 30.91}, {'connected_gene': 'CHTF8', 'score': 10.93}, {'connected_gene': 'SNTB2', 'score': 6.26}, {'connected_gene': 'TMED6', 'score': 4.47}, {'connected_gene': 'GC16M069169', 'score': 0.77}, {'connected_gene': 'GC16P069161', 'score': 0.44}]
chr16 GH16I069436 69436165 69437094 1.03 [{'connected_gene': 'UTP4', 'score': 14.48}, {'connected_gene': 'TMED6', 'score': 6.77}, {'connected_gene': 'CYB5B', 'score': 6.09}, {'connected_gene': 'CLEC18C', 'score': 4.47}, {'connected_gene': 'LOC100420066', 'score': 0.44}, {'connected_gene': 'GC16M069459', 'score': 0.39}]
chr16 GH16I069464 69464427 69467770 1.31 [{'connected_gene': 'UTP4', 'score': 14.48}, {'connected_gene': 'TMED6', 'score': 6.55}, {'connected_gene': 'CLEC18C', 'score': 4.47}, {'connected_gene': 'ENSG00000260108', 'score': 0.77}, {'connected_gene': 'GC16P069452', 'score': 0.39}, {'connected_gene': 'GC16P069486', 'score': 0.37}, {'connected_gene': 'CYB5B', 'score': 0.26}]
chr16 GH16I069422 69422993 69426327 2.29 [{'connected_gene': 'CYB5B', 'score': 556.63}, {'connected_gene': 'GC16M069467', 'score': 550.77}, {'connected_gene': 'GC16M069459', 'score': 550.77}, {'connected_gene': 'DDX19B', 'score': 50.13}, {'connected_gene': 'PDPR', 'score': 49.23}, {'connected_gene': 'NFAT5', 'score': 42.13}, {'connected_gene': 'NONOP1', 'score': 33.13}, {'connected_gene': 'CHTF8', 'score': 33.1}, {'connected_gene': 'ZFP90', 'score': 31.09}, {'connected_gene': 'LOC400541', 'score': 27.49}, {'connected_gene': 'SNTB2', 'score': 22.48}, {'connected_gene': 'PDXDC2P-NPIPB14P', 'score': 19.71}, {'connected_gene': 'UTP4', 'score': 19.5}, {'connected_gene': 'PDXDC2P', 'score': 18.88}, {'connected_gene': 'NPIPB14P', 'score': 18.64}, {'connected_gene': 'DDX19A', 'score': 13.65}, {'connected_gene': 'MIR1538', 'score': 11.85}, {'connected_gene': 'TERF2', 'score': 11.01}, {'connected_gene': 'EXOSC6', 'score': 10.27}, {'connected_gene': 'RPS2P45', 'score': 9.74}, {'connected_gene': 'TMED6', 'score': 6.51}, {'connected_gene': 'CLEC18A', 'score': 4.86}, {'connected_gene': 'CLEC18C', 'score': 4.46}]
chr16 GH16I069384 69384127 69386607 2.26 [{'connected_gene': 'TERF2', 'score': 550.34}, {'connected_gene': 'UTP4', 'score': 19.98}, {'connected_gene': 'NIP7', 'score': 12.3}, {'connected_gene': 'TMED6', 'score': 6.09}, {'connected_gene': 'GC16M069470', 'score': 0.44}, {'connected_gene': 'PIR63038', 'score': 0.34}]
chr16 GH16I069372 69372823 69373760 0.2 [{'connected_gene': 'TERF2', 'score': 13.78}, {'connected_gene': 'TMED6', 'score': 12.43}, {'connected_gene': 'NIP7', 'score': 12.38}, {'connected_gene': 'PIR63038', 'score': 0.44}, {'connected_gene': 'GC16M069470', 'score': 0.37}]
chr16 GH16I069402 69402423 69413932 1.74 [{'connected_gene': 'TERF2', 'score': 562.49}, {'connected_gene': 'NFAT5', 'score': 89.2}, {'connected_gene': 'PDPR', 'score': 73.75}, {'connected_gene': 'PDXDC2P-NPIPB14P', 'score': 61.96}, {'connected_gene': 'NONOP1', 'score': 60.65}, {'connected_gene': 'LOC400541', 'score': 59.91}, {'connected_gene': 'PDXDC2P', 'score': 57.12}, {'connected_gene': 'NPIPB14P', 'score': 55.13}, {'connected_gene': 'DDX19A', 'score': 55.06}, {'connected_gene': 'SNTB2', 'score': 37.03}, {'connected_gene': 'CHTF8', 'score': 32.24}, {'connected_gene': 'EXOSC6', 'score': 29.86}, {'connected_gene': 'AARS', 'score': 28.78}, {'connected_gene': 'ZFP90', 'score': 27.94}, {'connected_gene': 'DDX19B', 'score': 26.85}, {'connected_gene': 'LOC100506083', 'score': 26.8}, {'connected_gene': 'UTP4', 'score': 23.68}, {'connected_gene': 'TMED6', 'score': 18.96}, {'connected_gene': 'MIR1538', 'score': 11.19}, {'connected_gene': 'NIP7', 'score': 11.11}, {'connected_gene': 'NQO1', 'score': 10.19}, {'connected_gene': 'NOB1', 'score': 9.72}, {'connected_gene': 'WWP2', 'score': 9.55}, {'connected_gene': 'ENSG00000252443', 'score': 9.55}, {'connected_gene': 'CYB5B', 'score': 6.12}, {'connected_gene': 'CLEC18A', 'score': 4.86}, {'connected_gene': 'CLEC18C', 'score': 4.46}, {'connected_gene': 'SMG1P7', 'score': 4.31}, {'connected_gene': 'GC16M069470', 'score': 0.37}]
chr16 GH16I069186 69186002 69189184 2.04 [{'connected_gene': 'SNTB2', 'score': 563.67}, {'connected_gene': 'UTP4', 'score': 20.17}, {'connected_gene': 'LOC400541', 'score': 13.35}, {'connected_gene': 'PDPR', 'score': 10.61}, {'connected_gene': 'TMED6', 'score': 4.54}, {'connected_gene': 'GC16P069191', 'score': 0.77}, {'connected_gene': 'GC16P069161', 'score': 0.31}]
chr16 GH16I069223 69223429 69226896 0.43 [{'connected_gene': 'SNTB2', 'score': 26.72}, {'connected_gene': 'UTP4', 'score': 20.11}, {'connected_gene': 'ENSG00000200164', 'score': 11.44}, {'connected_gene': 'TMED6', 'score': 4.43}, {'connected_gene': 'PIR60656', 'score': 0.37}, {'connected_gene': 'ENSG00000265113', 'score': 0.37}]
chr16 GH16I069170 69170471 69174917 1.12 [{'connected_gene': 'SNTB2', 'score': 21.7}, {'connected_gene': 'UTP4', 'score': 20.22}, {'connected_gene': 'NFAT5', 'score': 15.23}, {'connected_gene': 'PDPR', 'score': 13.68}, {'connected_gene': 'PDXDC2P-NPIPB14P', 'score': 13.48}, {'connected_gene': 'NONOP1', 'score': 12.91}, {'connected_gene': 'PDXDC2P', 'score': 12.79}, {'connected_gene': 'NPIPB14P', 'score': 12.03}, {'connected_gene': 'SLC7A6OS', 'score': 10.09}, {'connected_gene': 'TMED6', 'score': 4.53}, {'connected_gene': 'GC16M069175', 'score': 0.77}, {'connected_gene': 'RNU6-22P', 'score': 0.77}, {'connected_gene': 'GC16M069169', 'score': 0.77}, {'connected_gene': 'GC16P069161', 'score': 0.39}]
chr16 GH16I069130 69130077 69133947 2.07 [{'connected_gene': 'CHTF8', 'score': 574.6}, {'connected_gene': 'UTP4', 'score': 550.77}, {'connected_gene': 'SNTB2', 'score': 42.48}, {'connected_gene': 'PDPR', 'score': 39.43}, {'connected_gene': 'NFAT5', 'score': 39.4}, {'connected_gene': 'NONOP1', 'score': 34.19}, {'connected_gene': 'PDXDC2P-NPIPB14P', 'score': 23.21}, {'connected_gene': 'NPIPB14P', 'score': 22.79}, {'connected_gene': 'PDXDC2P', 'score': 20.99}, {'connected_gene': 'RNU6-22P', 'score': 12.03}, {'connected_gene': 'ENSG00000263276', 'score': 11.83}, {'connected_gene': 'NIP7', 'score': 11.04}, {'connected_gene': 'ENSG00000200164', 'score': 10.83}, {'connected_gene': 'PRMT7', 'score': 10.59}, {'connected_gene': 'ENSG00000260891', 'score': 10.19}, {'connected_gene': 'NOB1', 'score': 9.7}, {'connected_gene': 'TMED6', 'score': 7.85}]
chr16 GH16I069062 69062338 69063322 0.43 [{'connected_gene': 'PRMT7', 'score': 16.55}, {'connected_gene': 'TMED6', 'score': 5.45}, {'connected_gene': 'RPS2P45', 'score': 0.31}, {'connected_gene': 'HAS3', 'score': 0.26}, {'connected_gene': 'TANGO6', 'score': 0.08}]
chr16 GH16I069338 69338191 69341387 2.11 [{'connected_gene': 'NIP7', 'score': 572.31}, {'connected_gene': 'PIR44456', 'score': 550.77}, {'connected_gene': 'COG8', 'score': 550.77}, {'connected_gene': 'SNTB2', 'score': 34.65}, {'connected_gene': 'NONOP1', 'score': 29.05}, {'connected_gene': 'LOC400541', 'score': 27.53}, {'connected_gene': 'CHTF8', 'score': 26.07}, {'connected_gene': 'NFAT5', 'score': 25.69}, {'connected_gene': 'DDX19B', 'score': 25.38}, {'connected_gene': 'PDXDC2P-NPIPB14P', 'score': 22.58}, {'connected_gene': 'PDPR', 'score': 22.41}, {'connected_gene': 'PDXDC2P', 'score': 20.47}, {'connected_gene': 'UTP4', 'score': 19.94}, {'connected_gene': 'NPIPB14P', 'score': 19.92}, {'connected_gene': 'EXOSC6', 'score': 10.56}, {'connected_gene': 'TMED6', 'score': 6.1}, {'connected_gene': 'ENSG00000259900', 'score': 0.39}, {'connected_gene': 'ENSG00000260371', 'score': 0.37}]
chr16 GH16I069379 69379867 69383125 0.63 [{'connected_gene': 'NIP7', 'score': 23.45}, {'connected_gene': 'TMED6', 'score': 18.69}, {'connected_gene': 'CYB5B', 'score': 11.22}, {'connected_gene': 'WWP2', 'score': 9.62}, {'connected_gene': 'ENSG00000252443', 'score': 9.62}, {'connected_gene': 'GC16M069470', 'score': 0.39}, {'connected_gene': 'PIR63038', 'score': 0.37}, {'connected_gene': 'TERF2', 'score': 0.31}]
chr16 GH16I069057 69057128 69058976 1.15 [{'connected_gene': 'CDH1', 'score': 5.66}, {'connected_gene': 'TMED6', 'score': 5.2}, {'connected_gene': 'RPS2P45', 'score': 0.34}, {'connected_gene': 'HAS3', 'score': 0.25}, {'connected_gene': 'TANGO6', 'score': 0.08}]
chr16 GH16I068750 68750047 68758881 1.34 [{'connected_gene': 'EDC4', 'score': 21.53}, {'connected_gene': 'PRMT7', 'score': 16.56}, {'connected_gene': 'ZFP90', 'score': 14.06}, {'connected_gene': 'CENPT', 'score': 10.03}, {'connected_gene': 'TMED6', 'score': 4.37}, {'connected_gene': 'THAP11', 'score': 3.68}, {'connected_gene': 'GC16P068743', 'score': 0.39}, {'connected_gene': 'RNA5SP429', 'score': 0.39}, {'connected_gene': 'CDH1', 'score': 0.37}, {'connected_gene': 'FTLP14', 'score': 0.2}]
chr16 GH16I069439 69439588 69440824 0.43 [{'connected_gene': 'TMED6', 'score': 6.76}, {'connected_gene': 'CYB5B', 'score': 6.06}, {'connected_gene': 'LOC100420066', 'score': 0.77}, {'connected_gene': 'GC16M069459', 'score': 0.37}]
chr16 GH16I069099 69099662 69101908 0.38 [{'connected_gene': 'RNU6-898P', 'score': 11.35}, {'connected_gene': 'SNTB2', 'score': 10.1}, {'connected_gene': 'ENSG00000200164', 'score': 10.09}, {'connected_gene': 'CDH1', 'score': 5.89}, {'connected_gene': 'TMED6', 'score': 4.63}, {'connected_gene': 'HAS3', 'score': 0.77}, {'connected_gene': 'RPS2P45', 'score': 0.2}]
chr16 GH16I068635 68635601 68637598 0.97 [{'connected_gene': 'CDH3', 'score': 550.77}, {'connected_gene': 'ZFP90', 'score': 18.77}, {'connected_gene': 'TMED6', 'score': 5.5}, {'connected_gene': 'ENSG00000260577', 'score': 0.44}]
chr16 GH16I069443 69443065 69445569 1.41 [{'connected_gene': 'LOC100420066', 'score': 550.77}, {'connected_gene': 'UTP4', 'score': 14.48}, {'connected_gene': 'TMED6', 'score': 6.75}, {'connected_gene': 'CYB5B', 'score': 6.08}, {'connected_gene': 'SMG1P7', 'score': 4.68}, {'connected_gene': 'CLEC18C', 'score': 4.46}, {'connected_gene': 'GC16M069468', 'score': 0.77}]
chr16 GH16I069325 69325747 69328040 1.1 [{'connected_gene': 'PIR53878', 'score': 550.77}, {'connected_gene': 'PIR31148', 'score': 550.77}, {'connected_gene': 'PIR53140', 'score': 550.77}, {'connected_gene': 'GC16M069465', 'score': 550.77}, {'connected_gene': 'PIR50457', 'score': 550.77}, {'connected_gene': 'PIR43287', 'score': 550.77}, {'connected_gene': 'UTP4', 'score': 29.2}, {'connected_gene': 'TMED6', 'score': 17.99}, {'connected_gene': 'NIP7', 'score': 10.04}, {'connected_gene': 'CHTF8', 'score': 9.91}, {'connected_gene': 'PIR46379', 'score': 0.77}, {'connected_gene': 'COG8', 'score': 0.39}, {'connected_gene': 'VPS4A', 'score': 0.37}]
chr16 GH16I069217 69217166 69218120 1.01 [{'connected_gene': 'ENSG00000200164', 'score': 11.65}, {'connected_gene': 'SNTB2', 'score': 11.64}, {'connected_gene': 'NIP7', 'score': 10.79}, {'connected_gene': 'TMED6', 'score': 10.78}, {'connected_gene': 'PIR60656', 'score': 0.44}, {'connected_gene': 'ENSG00000265113', 'score': 0.34}, {'connected_gene': 'UTP4', 'score': 0.17}]
chr16 GH16I069328 69328291 69331629 2.06 [{'connected_gene': 'PIR46379', 'score': 550.77}, {'connected_gene': 'PDF', 'score': 550.77}, {'connected_gene': 'UTP4', 'score': 17.55}, {'connected_gene': 'SNTB2', 'score': 12.86}, {'connected_gene': 'NIP7', 'score': 12.8}, {'connected_gene': 'TMED6', 'score': 6.71}, {'connected_gene': 'PIR53878', 'score': 0.77}, {'connected_gene': 'COG8', 'score': 0.44}]
chr16 GH16I069317 69317951 69318026 0.47 [{'connected_gene': 'PIR42936', 'score': 550.77}, {'connected_gene': 'NIP7', 'score': 12.27}, {'connected_gene': 'TMED6', 'score': 12.22}, {'connected_gene': 'UTP4', 'score': 10.24}, {'connected_gene': 'CHTF8', 'score': 10.24}, {'connected_gene': 'VPS4A', 'score': 0.44}, {'connected_gene': 'ENSG00000260914', 'score': 0.37}]
chr16 GH16I069324 69324398 69324547 0.7 [{'connected_gene': 'PIR52589', 'score': 550.77}, {'connected_gene': 'PIR32826', 'score': 550.77}, {'connected_gene': 'PIR31148', 'score': 550.77}, {'connected_gene': 'PIR53140', 'score': 550.77}, {'connected_gene': 'PIR42872', 'score': 550.77}, {'connected_gene': 'GC16M069465', 'score': 550.77}, {'connected_gene': 'PIR50457', 'score': 550.77}, {'connected_gene': 'PIR43287', 'score': 550.77}, {'connected_gene': 'PIR33560', 'score': 550.77}, {'connected_gene': 'TMED6', 'score': 12.2}, {'connected_gene': 'UTP4', 'score': 9.91}, {'connected_gene': 'CHTF8', 'score': 9.91}, {'connected_gene': 'VPS4A', 'score': 0.39}]
chr16 GH16I069351 69351032 69352321 1.26 [{'connected_gene': 'ENSG00000259900', 'score': 550.77}, {'connected_gene': 'TMED6', 'score': 550.77}, {'connected_gene': 'SNTB2', 'score': 10.39}, {'connected_gene': 'NIP7', 'score': 4.18}, {'connected_gene': 'ENSG00000260371', 'score': 0.77}, {'connected_gene': 'PIR44456', 'score': 0.39}]
chr16 GH16I069350 69350758 69350987 0.63 [{'connected_gene': 'ENSG00000259900', 'score': 550.77}, {'connected_gene': 'TMED6', 'score': 550.77}, {'connected_gene': 'SNTB2', 'score': 9.37}, {'connected_gene': 'ENSG00000260371', 'score': 0.44}, {'connected_gene': 'PIR44456', 'score': 0.39}]
chr16 GH16I069175 69175967 69177127 0.58 [{'connected_gene': 'GC16M069175', 'score': 550.77}, {'connected_gene': 'RNU6-22P', 'score': 550.77}, {'connected_gene': 'UTP4', 'score': 20.2}, {'connected_gene': 'SNTB2', 'score': 15.21}, {'connected_gene': 'TMED6', 'score': 4.41}, {'connected_gene': 'GC16M069179', 'score': 0.77}, {'connected_gene': 'GC16P069161', 'score': 0.39}]

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