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
ENST00000379061 [[26691377, 26691497], [26692137, 26692187], [26708221, 26708840], [26711375, 26711588], [26711857, 26711949], [26712058, 26712294], [26715192, 26715295], [26715378, 26715558], [26722923, 26723045], [26723175, 26723279], [26725069, 26725151]] None
ENST00000457710 [[26698682, 26699521], [26708221, 26708840], [26711375, 26711588], [26711857, 26711949], [26712058, 26712294], [26715192, 26715295], [26715368, 26715558], [26722923, 26723045], [26723175, 26728065]] [[26699153, 26699521], [26708221, 26708840], [26711375, 26711588], [26711857, 26711949], [26712058, 26712294], [26715192, 26715295], [26715368, 26715558], [26722923, 26723045], [26723175, 26723305]]
ENST00000003834 [[26711688, 26711949], [26712058, 26712294], [26715192, 26715295], [26715368, 26715558], [26722923, 26723045], [26723175, 26725179]] None
ENST00000582323 [[26711844, 26711949], [26712058, 26712294], [26713626, 26713700], [26715192, 26715295], [26715368, 26715413]] [[26711844, 26711949], [26712058, 26712294], [26713626, 26713640]]
ENST00000578128 [[26712118, 26712294], [26715141, 26715295], [26715368, 26715558], [26722923, 26723045], [26723175, 26723430]] [[26712118, 26712294], [26715141, 26715295], [26715368, 26715558], [26722923, 26723045], [26723175, 26723305]]
ENST00000577870 [[26712449, 26712485], [26715192, 26715558], [26722923, 26723045], [26723175, 26723217]] None
ENST00000580711 [[26715016, 26715295], [26715378, 26715558], [26722923, 26722997]] None
ENST00000579593 [[26715288, 26715295], [26715368, 26715558], [26722923, 26723839]] [[26715288, 26715295], [26715368, 26715558], [26722923, 26723049]]
NM_015077 [[26698682, 26699193], [26699195, 26699366], [26699368, 26699521], [26708221, 26708840], [26711375, 26711588], [26711857, 26711949], [26712058, 26712294], [26715192, 26715295], [26715368, 26715558], [26722923, 26723045], [26723175, 26728062]] [[26699053, 26699193], [26699195, 26699366], [26699368, 26699521], [26708221, 26708840], [26711375, 26711588], [26711857, 26711949], [26712058, 26712294], [26715192, 26715295], [26715368, 26715558], [26722923, 26723045], [26723175, 26723305]]
Promoter
Chrom Start End Description
chr17 26684661 26684696 CAGE_peak_1_at_SARM1_5end,CAGE_peak_1_at_TMEM199_5end
chr17 26698422 26698461 CAGE_peak_6_at_SARM1_5end
chr17 26698677 26698732 CAGE_peak_2_at_SARM1_5end
chr17 26698736 26698763 CAGE_peak_3_at_SARM1_5end
chr17 26698813 26698822 CAGE_peak_11_at_SARM1_5end
chr17 26699055 26699067 CAGE_peak_8_at_SARM1_5end
chr17 26699073 26699105 CAGE_peak_4_at_SARM1_5end
chr17 26711593 26711661 CAGE_peak_5_at_SARM1_5end
chr17 26711726 26711737 CAGE_peak_12_at_SARM1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I028384 28384087 28385988 1.23 [{'connected_gene': 'PIGS', 'score': 9.79}, {'connected_gene': 'VTN', 'score': 7.79}, {'connected_gene': 'ENSG00000279532', 'score': 0.39}, {'connected_gene': 'GC17M029117', 'score': 0.37}, {'connected_gene': 'SARM1', 'score': 0.34}]
chr17 GH17I028368 28368919 28372730 2.07 [{'connected_gene': 'VTN', 'score': 560.89}, {'connected_gene': 'SARM1', 'score': 550.44}, {'connected_gene': 'SUPT6H', 'score': 20.37}, {'connected_gene': 'NUFIP2', 'score': 18.38}, {'connected_gene': 'ENSG00000264577', 'score': 17.5}, {'connected_gene': 'PHF12', 'score': 17.08}, {'connected_gene': 'ENSG00000265908', 'score': 14.91}, {'connected_gene': 'ENSG00000265205', 'score': 13.85}, {'connected_gene': 'ITM2BP1', 'score': 12.65}, {'connected_gene': 'TMEM199', 'score': 11.92}, {'connected_gene': 'LOC101927018', 'score': 11.35}, {'connected_gene': 'PIGS', 'score': 10.91}, {'connected_gene': 'SDF2', 'score': 10.59}, {'connected_gene': 'ENSG00000273171', 'score': 0.77}, {'connected_gene': 'ENSG00000258924', 'score': 0.39}]
chr17 GH17I028391 28391705 28391899 0.39 [{'connected_gene': 'SEBOX', 'score': 3.34}, {'connected_gene': 'SARM1', 'score': 1.92}, {'connected_gene': 'FOXN1', 'score': 1.63}, {'connected_gene': 'FAM222B', 'score': 1.18}, {'connected_gene': 'GC17M029117', 'score': 0.44}, {'connected_gene': 'ENSG00000279532', 'score': 0.37}]
chr17 GH17I029290 29290880 29295651 2.66 [{'connected_gene': 'NUFIP2', 'score': 575.54}, {'connected_gene': 'ENSG00000264577', 'score': 28.36}, {'connected_gene': 'SUPT6H', 'score': 24.47}, {'connected_gene': 'TMEM199', 'score': 23.25}, {'connected_gene': 'LOC101927018', 'score': 22.46}, {'connected_gene': 'PHF12', 'score': 19.81}, {'connected_gene': 'RPL23A', 'score': 19.41}, {'connected_gene': 'ENSG00000264044', 'score': 18.16}, {'connected_gene': 'RAB34', 'score': 17.23}, {'connected_gene': 'MYO18A', 'score': 14.14}, {'connected_gene': 'SDF2', 'score': 14.14}, {'connected_gene': 'NEK8', 'score': 12.21}, {'connected_gene': 'SARM1', 'score': 11.69}, {'connected_gene': 'ANKRD13B', 'score': 11.5}, {'connected_gene': 'ENSG00000265474', 'score': 11.21}, {'connected_gene': 'ENSG00000265908', 'score': 10.6}, {'connected_gene': 'NSRP1', 'score': 10.45}, {'connected_gene': 'TAOK1', 'score': 10.0}, {'connected_gene': 'GC17M029118', 'score': 0.39}, {'connected_gene': 'CRYBA1', 'score': 0.25}]
chr17 GH17I028841 28841340 28843400 2.03 [{'connected_gene': 'FAM222B', 'score': 550.39}, {'connected_gene': 'RAB34', 'score': 14.71}, {'connected_gene': 'TRAF4', 'score': 11.57}, {'connected_gene': 'SARM1', 'score': 10.82}, {'connected_gene': 'RPL23A', 'score': 10.14}, {'connected_gene': 'TAOK1', 'score': 9.69}, {'connected_gene': 'GIT1', 'score': 3.76}, {'connected_gene': 'ENSG00000264138', 'score': 0.44}, {'connected_gene': 'ENSG00000238516', 'score': 0.44}]
chr17 GH17I028040 28040574 28044925 2 [{'connected_gene': 'NLK', 'score': 556.4}, {'connected_gene': 'LOC105371709', 'score': 550.77}, {'connected_gene': 'LOC102724517', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 19.71}, {'connected_gene': 'ITM2BP1', 'score': 12.54}, {'connected_gene': 'LOC101927018', 'score': 12.36}, {'connected_gene': 'PHF12', 'score': 11.83}, {'connected_gene': 'ENSG00000251818', 'score': 11.52}, {'connected_gene': 'ENSG00000202389', 'score': 11.52}, {'connected_gene': 'SARM1', 'score': 10.83}, {'connected_gene': 'TMEM199', 'score': 10.53}]
chr17 GH17I027630 27630615 27636284 1.86 [{'connected_gene': 'LGALS9', 'score': 596.39}, {'connected_gene': 'ITM2BP1', 'score': 13.92}, {'connected_gene': 'TMEM199', 'score': 11.25}, {'connected_gene': 'SARM1', 'score': 10.22}, {'connected_gene': 'LYRM9', 'score': 4.06}, {'connected_gene': 'ENSG00000266728', 'score': 0.39}, {'connected_gene': 'NOS2P1', 'score': 0.29}]
chr17 GH17I028282 28282002 28283787 0.97 [{'connected_gene': 'TMEM97', 'score': 12.11}, {'connected_gene': 'SUPT6H', 'score': 9.94}, {'connected_gene': 'POLDIP2', 'score': 4.87}, {'connected_gene': 'SARM1', 'score': 4.86}, {'connected_gene': 'PIRC93', 'score': 0.77}, {'connected_gene': 'PIR58208', 'score': 0.44}, {'connected_gene': 'GC17M029101', 'score': 0.44}, {'connected_gene': 'KRT18P55', 'score': 0.29}]
chr17 GH17I028393 28393995 28399737 0.8 [{'connected_gene': 'POLDIP2', 'score': 23.36}, {'connected_gene': 'VTN', 'score': 11.72}, {'connected_gene': 'SARM1', 'score': 11.68}, {'connected_gene': 'TMEM199', 'score': 11.66}, {'connected_gene': 'TNFAIP1', 'score': 11.29}, {'connected_gene': 'IFT20', 'score': 11.29}, {'connected_gene': 'FOXN1', 'score': 10.81}, {'connected_gene': 'UNC119', 'score': 10.44}, {'connected_gene': 'PIGS', 'score': 10.43}, {'connected_gene': 'GC17M029117', 'score': 0.77}, {'connected_gene': 'SLC46A1', 'score': 0.39}, {'connected_gene': 'ENSG00000279532', 'score': 0.34}]
chr17 GH17I028891 28891615 28899032 2.44 [{'connected_gene': 'FLOT2', 'score': 550.77}, {'connected_gene': 'NUFIP2', 'score': 16.7}, {'connected_gene': 'SUPT6H', 'score': 16.45}, {'connected_gene': 'PHF12', 'score': 15.78}, {'connected_gene': 'ENSG00000264577', 'score': 15.3}, {'connected_gene': 'ENSG00000265908', 'score': 12.61}, {'connected_gene': 'ENSG00000265205', 'score': 11.56}, {'connected_gene': 'RPL23A', 'score': 11.37}, {'connected_gene': 'SDF2', 'score': 11.2}, {'connected_gene': 'PROCA1', 'score': 10.81}, {'connected_gene': 'SARM1', 'score': 10.8}, {'connected_gene': 'ENSG00000264290', 'score': 10.11}, {'connected_gene': 'TMEM199', 'score': 9.93}, {'connected_gene': 'TRAF4', 'score': 3.88}, {'connected_gene': 'ENSG00000264304', 'score': 0.77}, {'connected_gene': 'ENSG00000266642', 'score': 0.77}, {'connected_gene': 'DHRS13', 'score': 0.44}]
chr17 GH17I027408 27408258 27409214 0.52 [{'connected_gene': 'SARM1', 'score': 10.8}, {'connected_gene': 'KSR1', 'score': 9.45}, {'connected_gene': 'ENSG00000266356', 'score': 0.77}, {'connected_gene': 'LOC105371705', 'score': 0.77}]
chr17 GH17I028355 28355865 28358706 2.06 [{'connected_gene': 'TMEM199', 'score': 561.24}, {'connected_gene': 'POLDIP2', 'score': 550.77}, {'connected_gene': 'ENSG00000258924', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 28.82}, {'connected_gene': 'SARM1', 'score': 12.1}, {'connected_gene': 'ITM2BP1', 'score': 11.93}, {'connected_gene': 'PHF12', 'score': 11.83}, {'connected_gene': 'SLC46A1', 'score': 11.21}, {'connected_gene': 'NUFIP2', 'score': 10.75}, {'connected_gene': 'UNC119', 'score': 9.92}, {'connected_gene': 'PIGS', 'score': 9.92}, {'connected_gene': 'ENSG00000264577', 'score': 9.7}, {'connected_gene': 'VTN', 'score': 7.09}, {'connected_gene': 'TRAF4', 'score': 5.05}, {'connected_gene': 'PIR62966', 'score': 0.77}]
chr17 GH17I028382 28380642 28380791 0.69 [{'connected_gene': 'SLC46A1', 'score': 11.98}, {'connected_gene': 'PIGS', 'score': 10.16}, {'connected_gene': 'ENSG00000279532', 'score': 0.44}, {'connected_gene': 'SARM1', 'score': 0.37}, {'connected_gene': 'GC17M029117', 'score': 0.34}, {'connected_gene': 'ENSG00000258924', 'score': 0.34}]
chr17 GH17I028381 28381662 28381751 0.6 [{'connected_gene': 'SLC46A1', 'score': 11.98}, {'connected_gene': 'IFT20', 'score': 10.78}, {'connected_gene': 'PIGS', 'score': 10.16}, {'connected_gene': 'ENSG00000279532', 'score': 0.44}, {'connected_gene': 'SARM1', 'score': 0.37}, {'connected_gene': 'GC17M029117', 'score': 0.37}, {'connected_gene': 'ENSG00000258924', 'score': 0.34}]
chr17 GH17I028403 28403896 28408945 2.01 [{'connected_gene': 'SLC46A1', 'score': 550.77}, {'connected_gene': 'ENSG00000265254', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 14.68}, {'connected_gene': 'NUFIP2', 'score': 14.11}, {'connected_gene': 'NEK8', 'score': 12.24}, {'connected_gene': 'ENSG00000264577', 'score': 11.53}, {'connected_gene': 'ENSG00000265474', 'score': 11.23}, {'connected_gene': 'POLDIP2', 'score': 10.68}, {'connected_gene': 'ITM2BP1', 'score': 10.47}, {'connected_gene': 'TMEM97', 'score': 5.09}, {'connected_gene': 'NOS2', 'score': 3.92}, {'connected_gene': 'GC17P028402', 'score': 0.77}, {'connected_gene': 'SARM1', 'score': 0.26}]
chr17 GH17I027990 27990673 27991924 0.56 [{'connected_gene': 'LINC01992', 'score': 550.77}, {'connected_gene': 'ENSG00000251818', 'score': 11.46}, {'connected_gene': 'ENSG00000202389', 'score': 11.44}, {'connected_gene': 'SARM1', 'score': 10.82}, {'connected_gene': 'SLC46A1', 'score': 5.0}, {'connected_gene': 'LYRM9', 'score': 0.15}, {'connected_gene': 'GC17M027891', 'score': 0.15}]
chr17 GH17I028380 28380262 28380431 0.92 [{'connected_gene': 'ITM2BP1', 'score': 16.8}, {'connected_gene': 'ENSG00000264577', 'score': 16.73}, {'connected_gene': 'SUPT6H', 'score': 16.35}, {'connected_gene': 'NUFIP2', 'score': 15.11}, {'connected_gene': 'ENSG00000265205', 'score': 14.85}, {'connected_gene': 'ENSG00000265908', 'score': 13.86}, {'connected_gene': 'PHF12', 'score': 12.25}, {'connected_gene': 'SLC46A1', 'score': 11.98}, {'connected_gene': 'RPL23A', 'score': 11.23}, {'connected_gene': 'SDF2', 'score': 11.21}, {'connected_gene': 'TNFAIP1', 'score': 11.17}, {'connected_gene': 'IFT20', 'score': 11.17}, {'connected_gene': 'PIGS', 'score': 10.31}, {'connected_gene': 'ENSG00000279532', 'score': 0.44}, {'connected_gene': 'SARM1', 'score': 0.37}, {'connected_gene': 'GC17M029117', 'score': 0.34}, {'connected_gene': 'ENSG00000258924', 'score': 0.34}]
chr17 GH17I028715 28715726 28730121 2.55 [{'connected_gene': 'ENSG00000264577', 'score': 602.17}, {'connected_gene': 'RPL23A', 'score': 570.15}, {'connected_gene': 'RAB34', 'score': 565.36}, {'connected_gene': 'NEK8', 'score': 562.95}, {'connected_gene': 'SNORD42A', 'score': 550.77}, {'connected_gene': 'GC17P028741', 'score': 550.77}, {'connected_gene': 'PIR32969', 'score': 550.77}, {'connected_gene': 'GC17P028753', 'score': 550.77}, {'connected_gene': 'SNORD4A', 'score': 550.77}, {'connected_gene': 'GC17P028748', 'score': 550.77}, {'connected_gene': 'SNORD4B', 'score': 550.77}, {'connected_gene': 'GC17P028746', 'score': 550.77}, {'connected_gene': 'TLCD1', 'score': 550.44}, {'connected_gene': 'SUPT6H', 'score': 56.1}, {'connected_gene': 'NUFIP2', 'score': 54.07}, {'connected_gene': 'PHF12', 'score': 43.6}, {'connected_gene': 'ENSG00000265908', 'score': 33.33}, {'connected_gene': 'TMEM199', 'score': 32.72}, {'connected_gene': 'SDF2', 'score': 24.92}, {'connected_gene': 'PROCA1', 'score': 22.42}, {'connected_gene': 'ENSG00000265205', 'score': 21.42}, {'connected_gene': 'LOC101927018', 'score': 21.24}, {'connected_gene': 'SARM1', 'score': 20.2}, {'connected_gene': 'ANKRD13B', 'score': 19.45}, {'connected_gene': 'PIGS', 'score': 12.49}, {'connected_gene': 'ENSG00000265474', 'score': 11.52}, {'connected_gene': 'ENSG00000264044', 'score': 10.72}, {'connected_gene': 'ENSG00000264290', 'score': 9.73}, {'connected_gene': 'GIT1', 'score': 3.74}, {'connected_gene': 'ENSG00000267729', 'score': 0.77}, {'connected_gene': 'GC17P028754', 'score': 0.77}, {'connected_gene': 'GC17P028744', 'score': 0.77}, {'connected_gene': 'PIR31809', 'score': 0.77}, {'connected_gene': 'SNORD42B', 'score': 0.77}, {'connected_gene': 'GC17P028751', 'score': 0.77}]
chr17 GH17I028402 28402423 28402592 0.56 [{'connected_gene': 'GC17P028402', 'score': 550.77}, {'connected_gene': 'GC17M029117', 'score': 550.77}, {'connected_gene': 'TMEM97', 'score': 4.53}, {'connected_gene': 'SLC46A1', 'score': 0.77}, {'connected_gene': 'ENSG00000265254', 'score': 0.77}, {'connected_gene': 'SARM1', 'score': 0.28}]

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