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
ENST00000394258 [[91498099, 91498178], [91499841, 91500130], [91500342, 91500733], [91500833, 91500955], [91503129, 91503228], [91503557, 91503728], [91504254, 91504284], [91504847, 91506349]] [[91499964, 91500130], [91500342, 91500733], [91500833, 91500955], [91503129, 91503228], [91503557, 91503728], [91504254, 91504284], [91504847, 91504999]]
ENST00000555155 [[91498110, 91498178], [91499841, 91500130], [91500342, 91500733], [91500833, 91500955], [91503129, 91503228], [91503563, 91503728], [91504254, 91504284], [91504847, 91505554]] [[91499964, 91500130], [91500342, 91500733], [91500833, 91500955], [91503129, 91503228], [91503563, 91503728], [91504254, 91504284], [91504847, 91504999]]
ENST00000555737 [[91498113, 91498178], [91499029, 91499113], [91499841, 91500733], [91500833, 91500955], [91503129, 91503228], [91503557, 91505452]] None
ENST00000556774 [[91498118, 91498178], [91503129, 91503208]] None
ENST00000557266 [[91498611, 91498682], [91499841, 91500733], [91500833, 91500955], [91503129, 91503228], [91503557, 91503728], [91504254, 91504284], [91504847, 91505572]] None
ENST00000554302 [[91498622, 91499113], [91499841, 91500336]] None
ENST00000556618 [[91499025, 91499113], [91499930, 91500130], [91500342, 91500733], [91500833, 91500955], [91503129, 91503228], [91503557, 91503728], [91504254, 91504284], [91504847, 91505004], [91505153, 91505451]] [[91499964, 91500130], [91500342, 91500733], [91500833, 91500955], [91503129, 91503228], [91503557, 91503728], [91504254, 91504284], [91504847, 91504999]]
ENST00000556333 [[91499969, 91500130], [91500833, 91500955], [91503129, 91503228], [91503557, 91503728], [91504254, 91504284], [91504847, 91504999]] [[91499969, 91500130], [91500833, 91500907]]
ENST00000557750 [[91502981, 91503728], [91504254, 91505203]] None
NM_001017919 [[91498105, 91498178], [91499841, 91500130], [91500342, 91500733], [91500833, 91500955], [91503129, 91503228], [91503557, 91503728], [91504254, 91504284], [91504847, 91506355]] [[91499964, 91500130], [91500342, 91500733], [91500833, 91500955], [91503129, 91503228], [91503557, 91503728], [91504254, 91504284], [91504847, 91504999]]
NM_033544 [[91498105, 91498178], [91499029, 91499113], [91499841, 91500130], [91500342, 91500733], [91500833, 91500955], [91503129, 91503228], [91503557, 91503728], [91504254, 91504284], [91504847, 91506355]] [[91499964, 91500130], [91500342, 91500733], [91500833, 91500955], [91503129, 91503228], [91503557, 91503728], [91504254, 91504284], [91504847, 91504999]]
Promoter
Chrom Start End Description
chr15 91498089 91498151 CAGE_peak_1_at_RCCD1_5end
chr15 91498536 91498571 CAGE_peak_4_at_RCCD1_5end
chr15 91498575 91498593 CAGE_peak_6_at_RCCD1_5end
chr15 91498606 91498620 CAGE_peak_7_at_RCCD1_5end
chr15 91499932 91499966 CAGE_peak_2_at_RCCD1_5end
chr15 91499986 91500032 CAGE_peak_3_at_RCCD1_5end
chr15 91500055 91500066 CAGE_peak_9_at_RCCD1_5end
chr15 91500126 91500138 CAGE_peak_5_at_RCCD1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I090958 90958639 90961417 0.52 [{'connected_gene': 'RCCD1', 'score': 51.32}, {'connected_gene': 'UNC45A', 'score': 15.78}, {'connected_gene': 'MAN2A2', 'score': 6.01}, {'connected_gene': 'VPS33B-DT', 'score': 5.4}, {'connected_gene': 'NDUFA3P4', 'score': 4.89}, {'connected_gene': 'ENSG00000258384', 'score': 0.77}, {'connected_gene': 'PRC1-AS1', 'score': 0.44}, {'connected_gene': 'GC15P090938', 'score': 0.34}]
chr15 GH15I090953 90953950 90958323 2.3 [{'connected_gene': 'RCCD1', 'score': 585.11}, {'connected_gene': 'ENSG00000258384', 'score': 550.77}, {'connected_gene': 'UNC45A', 'score': 34.63}, {'connected_gene': 'ENSG00000259314', 'score': 10.58}, {'connected_gene': 'PRC1-AS1', 'score': 0.39}, {'connected_gene': 'GC15P090938', 'score': 0.37}]
chr15 GH15I090909 90909691 90910951 0.46 [{'connected_gene': 'RCCD1', 'score': 14.86}, {'connected_gene': 'MAN2A2', 'score': 5.62}, {'connected_gene': 'GC15M090902', 'score': 0.77}, {'connected_gene': 'GC15P090903', 'score': 0.44}]
chr15 GH15I090981 90981579 90982552 0.65 [{'connected_gene': 'RCCD1', 'score': 13.11}, {'connected_gene': 'VPS33B', 'score': 7.0}, {'connected_gene': 'GC15M090978', 'score': 0.77}, {'connected_gene': 'ENSG00000200142', 'score': 0.77}, {'connected_gene': 'PRC1', 'score': 0.39}, {'connected_gene': 'PRC1-AS1', 'score': 0.37}, {'connected_gene': 'GC15P090938', 'score': 0.26}]
chr15 GH15I090989 90989201 90989400 0.43 [{'connected_gene': 'RCCD1', 'score': 27.87}, {'connected_gene': 'VPS33B', 'score': 12.3}, {'connected_gene': 'VPS33B-DT', 'score': 12.3}, {'connected_gene': 'PRC1', 'score': 0.44}, {'connected_gene': 'GC15M090978', 'score': 0.39}, {'connected_gene': 'ENSG00000200142', 'score': 0.39}, {'connected_gene': 'GC15P090938', 'score': 0.23}]
chr15 GH15I090988 90988202 90989000 0.79 [{'connected_gene': 'RCCD1', 'score': 46.73}, {'connected_gene': 'VPS33B-DT', 'score': 17.13}, {'connected_gene': 'VPS33B', 'score': 12.3}, {'connected_gene': 'PRC1', 'score': 0.44}, {'connected_gene': 'GC15M090978', 'score': 0.39}, {'connected_gene': 'ENSG00000200142', 'score': 0.39}, {'connected_gene': 'PRC1-AS1', 'score': 0.34}, {'connected_gene': 'GC15P090938', 'score': 0.23}]
chr15 GH15I090991 90991504 90995844 2.3 [{'connected_gene': 'PRC1', 'score': 550.77}, {'connected_gene': 'RCCD1', 'score': 46.84}, {'connected_gene': 'UNC45A', 'score': 25.72}, {'connected_gene': 'VPS33B', 'score': 23.6}, {'connected_gene': 'VPS33B-DT', 'score': 17.75}, {'connected_gene': 'ENSG00000259212', 'score': 13.85}, {'connected_gene': 'ENSG00000259314', 'score': 10.75}, {'connected_gene': 'FES', 'score': 5.49}, {'connected_gene': 'GC15M090978', 'score': 0.37}, {'connected_gene': 'ENSG00000200142', 'score': 0.37}, {'connected_gene': 'GC15P090938', 'score': 0.22}]
chr15 GH15I090462 90462553 90466527 1.15 [{'connected_gene': 'IQGAP1', 'score': 34.51}, {'connected_gene': 'RCCD1', 'score': 14.4}, {'connected_gene': 'RPL36AP43', 'score': 11.72}, {'connected_gene': 'GC15P090443', 'score': 0.34}, {'connected_gene': 'CRTC3', 'score': 0.2}]
chr15 GH15I090934 90933863 90936993 1.99 [{'connected_gene': 'UNC45A', 'score': 565.44}, {'connected_gene': 'ENSG00000224441', 'score': 550.77}, {'connected_gene': 'RCCD1', 'score': 18.16}, {'connected_gene': 'MAN2A2', 'score': 7.29}, {'connected_gene': 'GC15P090938', 'score': 0.77}]
chr15 GH15I090949 90949152 90950412 0.94 [{'connected_gene': 'UNC45A', 'score': 16.59}, {'connected_gene': 'PRC1', 'score': 10.66}, {'connected_gene': 'MAN2A2', 'score': 5.51}, {'connected_gene': 'RCCD1', 'score': 0.77}, {'connected_gene': 'GC15P090938', 'score': 0.39}]
chr15 GH15I090928 90928001 90933160 2.32 [{'connected_gene': 'UNC45A', 'score': 597.61}, {'connected_gene': 'HDDC3', 'score': 550.77}, {'connected_gene': 'RCCD1', 'score': 18.35}, {'connected_gene': 'ENSG00000259212', 'score': 13.29}, {'connected_gene': 'ENSG00000259314', 'score': 13.03}, {'connected_gene': 'MAN2A2', 'score': 12.57}, {'connected_gene': 'FES', 'score': 12.51}, {'connected_gene': 'ENSG00000224441', 'score': 0.77}]
chr15 GH15I090157 90157421 90169662 1.76 [{'connected_gene': 'UNC45A', 'score': 21.19}, {'connected_gene': 'CIB1', 'score': 20.71}, {'connected_gene': 'ENSG00000259314', 'score': 20.06}, {'connected_gene': 'POLG', 'score': 16.66}, {'connected_gene': 'RCCD1', 'score': 14.39}, {'connected_gene': 'SEMA4B', 'score': 12.99}, {'connected_gene': 'LOC100631255', 'score': 12.23}, {'connected_gene': 'RPL36AP43', 'score': 11.74}, {'connected_gene': 'GDPGP1', 'score': 11.64}, {'connected_gene': 'NGRN', 'score': 11.59}, {'connected_gene': 'GABARAPL3', 'score': 10.11}, {'connected_gene': 'ZNF774', 'score': 9.72}, {'connected_gene': 'MESP1', 'score': 9.28}, {'connected_gene': 'TTLL13P', 'score': 6.83}, {'connected_gene': 'IDH2', 'score': 6.47}, {'connected_gene': 'ENSG00000228998', 'score': 4.77}, {'connected_gene': 'ZNF710', 'score': 1.91}, {'connected_gene': 'IQGAP1', 'score': 1.62}, {'connected_gene': 'RN7SL346P', 'score': 0.77}]
chr15 GH15I090901 90901159 90904377 2.31 [{'connected_gene': 'MAN2A2', 'score': 559.23}, {'connected_gene': 'GC15P090903', 'score': 550.77}, {'connected_gene': 'UNC45A', 'score': 21.21}, {'connected_gene': 'NIFKP5', 'score': 13.93}, {'connected_gene': 'ENSG00000228998', 'score': 10.96}, {'connected_gene': 'VPS33B', 'score': 10.76}, {'connected_gene': 'RCCD1', 'score': 7.62}, {'connected_gene': 'CIB1', 'score': 4.53}, {'connected_gene': 'GC15M090902', 'score': 0.39}]
chr15 GH15I091021 91021360 91023342 2.04 [{'connected_gene': 'VPS33B', 'score': 562.13}, {'connected_gene': 'VPS33B-DT', 'score': 550.77}, {'connected_gene': 'ENSG00000278514', 'score': 550.77}, {'connected_gene': 'UNC45A', 'score': 31.76}, {'connected_gene': 'ENSG00000259314', 'score': 23.79}, {'connected_gene': 'RCCD1', 'score': 18.07}, {'connected_gene': 'CRTC3', 'score': 10.32}, {'connected_gene': 'LOC105370970', 'score': 0.39}, {'connected_gene': 'GC15P090938', 'score': 0.18}]
chr15 GH15I090855 90855948 90858200 1.3 [{'connected_gene': 'RN7SL363P', 'score': 550.77}, {'connected_gene': 'ENSG00000259314', 'score': 11.35}, {'connected_gene': 'RCCD1', 'score': 11.21}, {'connected_gene': 'ENSG00000259212', 'score': 10.62}, {'connected_gene': 'FES', 'score': 9.79}, {'connected_gene': 'VPS33B', 'score': 3.3}, {'connected_gene': 'CRTC3', 'score': 2.46}, {'connected_gene': 'GC15P090862', 'score': 0.44}]
chr15 GH15I090182 90182797 90186651 2.31 [{'connected_gene': 'SEMA4B', 'score': 562.97}, {'connected_gene': 'PIR44533', 'score': 550.77}, {'connected_gene': 'UNC45A', 'score': 23.44}, {'connected_gene': 'POLG', 'score': 20.91}, {'connected_gene': 'RCCD1', 'score': 14.39}, {'connected_gene': 'RPL36AP43', 'score': 11.74}, {'connected_gene': 'NIFKP5', 'score': 11.72}, {'connected_gene': 'ENSG00000259314', 'score': 11.11}, {'connected_gene': 'ENSG00000270322', 'score': 11.11}, {'connected_gene': 'CRTC3', 'score': 10.33}, {'connected_gene': 'CIB1', 'score': 7.05}, {'connected_gene': 'GC15P090181', 'score': 0.77}]
chr15 GH15I091534 91534799 91537991 1.37 [{'connected_gene': 'ENSG00000259314', 'score': 33.68}, {'connected_gene': 'ENSG00000259212', 'score': 27.81}, {'connected_gene': 'RCCD1', 'score': 19.84}, {'connected_gene': 'UNC45A', 'score': 19.47}, {'connected_gene': 'ENSG00000258954', 'score': 0.77}, {'connected_gene': 'GC15P091451', 'score': 0.17}, {'connected_gene': 'LOC105370973', 'score': 0.14}, {'connected_gene': 'CRAT37', 'score': 0.13}]
chr15 GH15I090645 90645573 90646523 1.03 [{'connected_gene': 'ENSG00000259314', 'score': 13.05}, {'connected_gene': 'BLM', 'score': 11.62}, {'connected_gene': 'ENSG00000259212', 'score': 11.16}, {'connected_gene': 'CRTC3', 'score': 10.86}, {'connected_gene': 'ENSG00000200677', 'score': 10.85}, {'connected_gene': 'RCCD1', 'score': 10.51}, {'connected_gene': 'UNC45A', 'score': 10.39}, {'connected_gene': 'ENSG00000278370', 'score': 0.77}, {'connected_gene': 'HSPE1P3', 'score': 0.39}, {'connected_gene': 'CRTC3-AS1', 'score': 0.19}]
chr15 GH15I090664 90664401 90666499 1.38 [{'connected_gene': 'ENSG00000259314', 'score': 24.18}, {'connected_gene': 'ENSG00000259212', 'score': 22.59}, {'connected_gene': 'UNC45A', 'score': 21.6}, {'connected_gene': 'WDR93', 'score': 13.51}, {'connected_gene': 'NIFKP5', 'score': 11.58}, {'connected_gene': 'FES', 'score': 11.25}, {'connected_gene': 'MAN2A2', 'score': 11.24}, {'connected_gene': 'BLM', 'score': 11.13}, {'connected_gene': 'RCCD1', 'score': 10.52}, {'connected_gene': 'ENSG00000200677', 'score': 10.12}, {'connected_gene': 'ZNF774', 'score': 9.99}, {'connected_gene': 'GABARAPL3', 'score': 9.99}, {'connected_gene': 'LINC01585', 'score': 0.44}, {'connected_gene': 'GC15P090677', 'score': 0.39}, {'connected_gene': 'CRTC3-AS1', 'score': 0.23}]
chr15 GH15I090301 90301169 90301601 1.07 [{'connected_gene': 'GC15M090299', 'score': 550.77}, {'connected_gene': 'ENSG00000259314', 'score': 12.81}, {'connected_gene': 'NGRN', 'score': 11.49}, {'connected_gene': 'ENSG00000259212', 'score': 10.97}, {'connected_gene': 'GDPGP1', 'score': 10.84}, {'connected_gene': 'GABARAPL3', 'score': 10.83}, {'connected_gene': 'ZNF774', 'score': 10.82}, {'connected_gene': 'CRTC3', 'score': 10.6}, {'connected_gene': 'RCCD1', 'score': 10.48}, {'connected_gene': 'POLG', 'score': 10.42}, {'connected_gene': 'UNC45A', 'score': 10.36}, {'connected_gene': 'GC15P090318', 'score': 0.37}, {'connected_gene': 'ENSG00000275674', 'score': 0.28}]

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