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
ENST00000396432 [[24872537, 24875035], [24878199, 24878231], [24880153, 24880259], [24880570, 24880612], [24880815, 24880941], [24883878, 24883968], [24884045, 24884119], [24884645, 24884724], [24884816, 24884972], [24885668, 24885811], [24886375, 24886512], [24886873, 24886938], [24889574, 24889859], [24890906, 24891032], [24893240, 24893277], [24896427, 24896530], [24896673, 24896832], [24908401, 24910298], [24911661, 24911691], [24918924, 24918979], [24922330, 24922409], [24923939, 24924032], [24955913, 24955938], [24959146, 24959326], [25010765, 25011208], [25012490, 25012597]] [[24873340, 24875035], [24878199, 24878231], [24880153, 24880259], [24880570, 24880612], [24880815, 24880941], [24883878, 24883968], [24884045, 24884119], [24884645, 24884724], [24884816, 24884972], [24885668, 24885811], [24886375, 24886512], [24886873, 24886938], [24889574, 24889859], [24890906, 24891032], [24893240, 24893277], [24896427, 24896530], [24896673, 24896832], [24908401, 24910298], [24911661, 24911691], [24918924, 24918979], [24922330, 24922409], [24923939, 24924032], [24955913, 24955938], [24959146, 24959326], [25010765, 25010828]]
ENST00000486374 [[24872542, 24875035], [24878199, 24878231], [24880153, 24880259], [24880570, 24880612], [24880815, 24880941], [24883878, 24883968], [24884045, 24884119], [24884645, 24884724], [24884816, 24885811], [24886375, 24886512], [24886873, 24886938], [24889574, 24889859], [24890906, 24891032], [24893240, 24893277], [24896427, 24896530], [24896673, 24896832], [24908401, 24910298]] None
ENST00000320481 [[24874858, 24875035], [24878199, 24878231], [24879134, 24879408], [24880153, 24880259], [24880570, 24880612], [24880815, 24880941], [24883878, 24883968], [24884045, 24884119], [24884645, 24884724], [24884816, 24884972], [24885668, 24885811], [24886375, 24886512], [24886873, 24886938], [24889574, 24889859], [24890906, 24891032], [24893240, 24893277], [24896427, 24896530], [24896673, 24896832], [24908401, 24910298], [24911661, 24911763]] [[24879265, 24879408], [24880153, 24880259], [24880570, 24880612], [24880815, 24880941], [24883878, 24883968], [24884045, 24884119], [24884645, 24884724], [24884816, 24884972], [24885668, 24885811], [24886375, 24886512], [24886873, 24886938], [24889574, 24889859], [24890906, 24891032], [24893240, 24893277], [24896427, 24896530], [24896673, 24896832], [24908401, 24910184]]
ENST00000376410 [[24885617, 24885811], [24886375, 24886512], [24886873, 24886938], [24889574, 24889859], [24890906, 24891032], [24893240, 24893277], [24896427, 24896530], [24896673, 24896832], [24908401, 24910298], [24918924, 24918979], [24922330, 24922409], [24923939, 24924032], [24955913, 24955938], [24959146, 24959326], [25010765, 25010856]] [[24885617, 24885811], [24886375, 24886512], [24886873, 24886938], [24889574, 24889859], [24890906, 24891032], [24893240, 24893277], [24896427, 24896530], [24896673, 24896832], [24908401, 24910298], [24918924, 24918979], [24922330, 24922409], [24923939, 24924032], [24955913, 24955938], [24959146, 24959326], [25010765, 25010828]]
ENST00000446003 [[24885750, 24885811], [24886375, 24886512], [24886873, 24886938], [24889574, 24889859], [24890906, 24891032], [24893240, 24893277], [24896427, 24896530], [24896673, 24896832], [24908401, 24910298], [24911661, 24911691], [24918924, 24918979], [24922330, 24922409], [24923939, 24924032], [24955913, 24955938], [24959146, 24959326], [25010765, 25011208], [25012085, 25012169]] [[24885750, 24885811], [24886375, 24886512], [24886873, 24886938], [24889574, 24889859], [24890906, 24891032], [24893240, 24893277], [24896427, 24896530], [24896673, 24896832], [24908401, 24910298], [24911661, 24911691], [24918924, 24918979], [24922330, 24922409], [24923939, 24924032], [24955913, 24955938], [24959146, 24959326], [25010765, 25010828]]
ENST00000477190 [[24874848, 24875035], [24878199, 24878971]] None
ENST00000418033 [[24874961, 24875035], [24878199, 24878231], [24880570, 24880612], [24880815, 24880941], [24883878, 24883968], [24884045, 24884119], [24884645, 24884724], [24884816, 24884889]] [[24874961, 24875035], [24878199, 24878231], [24880570, 24880612], [24880815, 24880941], [24883878, 24883968], [24884045, 24884119], [24884645, 24884724], [24884816, 24884889]]
ENST00000482792 [[24880273, 24880612], [24880815, 24880941], [24883878, 24883965]] None
ENST00000418325 [[24883898, 24883929], [24884045, 24884119], [24884645, 24884724], [24884816, 24884972]] [[24883898, 24883929], [24884045, 24884119], [24884645, 24884724], [24884816, 24884972]]
ENST00000493154 [[24886397, 24886512], [24886873, 24886938], [24889574, 24889717], [24890906, 24891032], [24893240, 24893277], [24896427, 24896530], [24896673, 24896800]] None
ENST00000476067 [[24896372, 24896530], [24896673, 24896807]] None
ENST00000483114 [[24909807, 24910298], [24911661, 24911771]] None
ENST00000476499 [[24917942, 24918979], [24922330, 24922409], [24923939, 24924032], [24955913, 24955938], [24959146, 24959326], [25010765, 25010963]] None
ENST00000416305 [[24918452, 24918791], [24918924, 24918979], [24922330, 24922409], [24923939, 24924032], [24955913, 24955938], [24959146, 24959326], [25010765, 25010795]] [[24918713, 24918791], [24918924, 24918979], [24922330, 24922409], [24923939, 24924032], [24955913, 24955938], [24959146, 24959326], [25010765, 25010795]]
ENST00000472150 [[24959267, 24959326], [25003225, 25003307], [25010765, 25011208], [25012085, 25012176]] None
ENST00000463892 [[25010940, 25011208], [25011414, 25011689]] None
NM_020824 [[24872537, 24875035], [24878199, 24878231], [24880153, 24880259], [24880570, 24880612], [24880815, 24880941], [24883878, 24883968], [24884045, 24884119], [24884645, 24884724], [24884816, 24884972], [24885668, 24885811], [24886375, 24886512], [24886873, 24886938], [24889574, 24889859], [24890906, 24891032], [24893240, 24893277], [24896427, 24896530], [24896673, 24896832], [24908401, 24910298], [24911661, 24911691], [24918924, 24918979], [24922330, 24922409], [24923939, 24924032], [24955913, 24955938], [24959146, 24959326], [25010765, 25011208], [25012490, 25012597]] [[24873340, 24875035], [24878199, 24878231], [24880153, 24880259], [24880570, 24880612], [24880815, 24880941], [24883878, 24883968], [24884045, 24884119], [24884645, 24884724], [24884816, 24884972], [24885668, 24885811], [24886375, 24886512], [24886873, 24886938], [24889574, 24889859], [24890906, 24891032], [24893240, 24893277], [24896427, 24896530], [24896673, 24896832], [24908401, 24910298], [24911661, 24911691], [24918924, 24918979], [24922330, 24922409], [24923939, 24924032], [24955913, 24955938], [24959146, 24959326], [25010765, 25010828]]
Promoter
Chrom Start End Description
chr10 24911746 24911793 CAGE_peak_6_at_ARHGAP21_5end
chr10 24912061 24912087 CAGE_peak_12_at_ARHGAP21_5end
chr10 25010885 25010904 CAGE_peak_11_at_ARHGAP21_5end
chr10 25011508 25011552 CAGE_peak_8_at_ARHGAP21_5end
chr10 25011629 25011685 CAGE_peak_4_at_ARHGAP21_5end
chr10 25011894 25011936 CAGE_peak_9_at_ARHGAP21_5end
chr10 25012115 25012174 CAGE_peak_3_at_ARHGAP21_5end
chr10 25012236 25012245 CAGE_peak_24_at_ARHGAP21_5end
chr10 25012661 25012732 CAGE_peak_5_at_ARHGAP21_5end
chr10 25012800 25012822 CAGE_peak_1_at_ARHGAP21_5end
chr10 25012828 25012860 CAGE_peak_2_at_ARHGAP21_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I024988 24988872 24989021 0.72 [{'connected_gene': 'THNSL1', 'score': 16.19}, {'connected_gene': 'ENKUR', 'score': 11.66}, {'connected_gene': 'ARHGAP21', 'score': 10.97}, {'connected_gene': 'PRTFDC1', 'score': 0.28}]
chr10 GH10I024985 24985032 24985181 0.4 [{'connected_gene': 'THNSL1', 'score': 16.26}, {'connected_gene': 'ENKUR', 'score': 11.65}, {'connected_gene': 'ARHGAP21', 'score': 10.98}, {'connected_gene': 'PRTFDC1', 'score': 0.29}]
chr10 GH10I024651 24650971 24651559 0.2 [{'connected_gene': 'THNSL1', 'score': 10.7}, {'connected_gene': 'ENKUR', 'score': 10.7}, {'connected_gene': 'GC10P024656', 'score': 0.77}, {'connected_gene': 'RNA5SP305', 'score': 0.39}, {'connected_gene': 'ARHGAP21', 'score': 0.19}, {'connected_gene': 'GC10P024495', 'score': 0.1}]
chr10 GH10I024650 24650811 24650941 0.2 [{'connected_gene': 'ARHGAP21', 'score': 11.34}, {'connected_gene': 'THNSL1', 'score': 10.7}, {'connected_gene': 'ENKUR', 'score': 10.7}, {'connected_gene': 'GC10P024656', 'score': 0.77}, {'connected_gene': 'RNA5SP305', 'score': 0.39}, {'connected_gene': 'GC10P024495', 'score': 0.1}]
chr10 GH10I024857 24857304 24859740 0.52 [{'connected_gene': 'ARHGAP21', 'score': 11.42}, {'connected_gene': 'THNSL1', 'score': 5.83}, {'connected_gene': 'ENSG00000228667', 'score': 0.44}, {'connected_gene': 'LOC105376456', 'score': 0.18}, {'connected_gene': 'PRTFDC1', 'score': 0.15}]
chr10 GH10I024811 24811932 24812233 0.89 [{'connected_gene': 'ARHGAP21', 'score': 4.7}, {'connected_gene': 'GPR158', 'score': 1.38}, {'connected_gene': 'LOC105376456', 'score': 0.29}, {'connected_gene': 'ENSG00000228667', 'score': 0.22}]
chr10 GH10I024703 24703380 24704485 0.46 [{'connected_gene': 'ARHGAP21', 'score': 2.9}, {'connected_gene': 'GPR158', 'score': 1.82}, {'connected_gene': 'COQ10BP1', 'score': 0.26}, {'connected_gene': 'GC10P024495', 'score': 0.08}]
chr10 GH10I024790 24790788 24790963 0.77 [{'connected_gene': 'ARHGAP21', 'score': 4.51}, {'connected_gene': 'PRTFDC1', 'score': 1.53}, {'connected_gene': 'THNSL1', 'score': 1.39}, {'connected_gene': 'GPR158', 'score': 1.27}, {'connected_gene': 'LOC105376456', 'score': 0.39}, {'connected_gene': 'ENSG00000228667', 'score': 0.18}, {'connected_gene': 'GC10P024495', 'score': 0.06}]
chr10 GH10I024929 24929082 24929555 0.92 [{'connected_gene': 'ARHGAP21', 'score': 20.56}, {'connected_gene': 'PRTFDC1', 'score': 12.47}, {'connected_gene': 'GC10M024909', 'score': 0.34}, {'connected_gene': 'RN7SKP241', 'score': 0.34}, {'connected_gene': 'ENSG00000273107', 'score': 0.34}]
chr10 GH10I024828 24828592 24828616 0.22 [{'connected_gene': 'ARHGAP21', 'score': 12.85}, {'connected_gene': 'PRTFDC1', 'score': 11.45}, {'connected_gene': 'ENSG00000228667', 'score': 0.28}, {'connected_gene': 'LOC105376456', 'score': 0.23}]
chr10 GH10I024914 24914272 24914421 0.2 [{'connected_gene': 'ARHGAP21', 'score': 10.94}, {'connected_gene': 'GC10M024909', 'score': 0.44}, {'connected_gene': 'RN7SKP241', 'score': 0.44}, {'connected_gene': 'PRTFDC1', 'score': 0.28}, {'connected_gene': 'ENSG00000273107', 'score': 0.28}]
chr10 GH10I024915 24915532 24915681 0.54 [{'connected_gene': 'ARHGAP21', 'score': 10.94}, {'connected_gene': 'GC10M024909', 'score': 0.44}, {'connected_gene': 'RN7SKP241', 'score': 0.44}, {'connected_gene': 'PRTFDC1', 'score': 0.28}, {'connected_gene': 'ENSG00000273107', 'score': 0.28}]
chr10 GH10I024715 24715872 24716946 0.77 [{'connected_gene': 'ARHGAP21', 'score': 0.44}, {'connected_gene': 'COQ10BP1', 'score': 0.22}, {'connected_gene': 'GC10P024495', 'score': 0.07}]
chr10 GH10I024701 24701601 24701800 0.79 [{'connected_gene': 'ARHGAP21', 'score': 0.34}, {'connected_gene': 'COQ10BP1', 'score': 0.26}, {'connected_gene': 'GC10P024495', 'score': 0.08}]
chr10 GH10I024717 24717958 24725465 2.23 [{'connected_gene': 'ARHGAP21', 'score': 550.77}, {'connected_gene': 'COQ10BP1', 'score': 0.21}, {'connected_gene': 'GC10P024495', 'score': 0.07}]
chr10 GH10I024709 24709383 24709740 0.2 [{'connected_gene': 'ARHGAP21', 'score': 0.39}, {'connected_gene': 'COQ10BP1', 'score': 0.25}, {'connected_gene': 'GC10P024495', 'score': 0.08}]
chr10 GH10I024706 24706002 24707622 1.25 [{'connected_gene': 'ARHGAP21', 'score': 0.37}, {'connected_gene': 'COQ10BP1', 'score': 0.25}, {'connected_gene': 'GC10P024495', 'score': 0.08}]
chr10 GH10I024711 24711957 24713906 0.43 [{'connected_gene': 'ARHGAP21', 'score': 0.39}, {'connected_gene': 'COQ10BP1', 'score': 0.23}, {'connected_gene': 'GC10P024495', 'score': 0.08}]
chr10 GH10I024695 24695552 24695701 0.2 [{'connected_gene': 'ARHGAP21', 'score': 12.12}, {'connected_gene': 'COQ10BP1', 'score': 0.29}, {'connected_gene': 'GC10P024495', 'score': 0.08}]
chr10 GH10I024636 24636674 24636856 0.27 [{'connected_gene': 'ARHGAP21', 'score': 1.49}, {'connected_gene': 'GC10P024641', 'score': 0.77}, {'connected_gene': 'PIR59453', 'score': 0.25}, {'connected_gene': 'GC10P024495', 'score': 0.11}]
chr10 GH10I024956 24956691 24959763 1.49 [{'connected_gene': 'PRTFDC1', 'score': 7.17}, {'connected_gene': 'THNSL1', 'score': 4.81}, {'connected_gene': 'ARHGAP21', 'score': 2.67}, {'connected_gene': 'GPR158', 'score': 1.23}]
chr10 GH10I024951 24951092 24954480 2.44 [{'connected_gene': 'PRTFDC1', 'score': 566.48}, {'connected_gene': 'ENSG00000273107', 'score': 550.77}, {'connected_gene': 'THNSL1', 'score': 2.08}, {'connected_gene': 'GPR158', 'score': 1.97}, {'connected_gene': 'ARHGAP21', 'score': 1.68}, {'connected_gene': 'GC10M024909', 'score': 0.26}, {'connected_gene': 'RN7SKP241', 'score': 0.26}]
chr10 GH10I024900 24900175 24903727 1.61 [{'connected_gene': 'PRTFDC1', 'score': 21.2}, {'connected_gene': 'ARHGAP21', 'score': 11.28}, {'connected_gene': 'GC10M024909', 'score': 0.44}, {'connected_gene': 'RN7SKP241', 'score': 0.44}, {'connected_gene': 'ENSG00000228667', 'score': 0.29}]
chr10 GH10I024920 24920482 24923253 1.39 [{'connected_gene': 'PRTFDC1', 'score': 10.42}, {'connected_gene': 'ARHGAP21', 'score': 9.44}, {'connected_gene': 'GC10M024909', 'score': 0.39}, {'connected_gene': 'RN7SKP241', 'score': 0.39}, {'connected_gene': 'ENSG00000273107', 'score': 0.29}]
chr10 GH10I024731 24731399 24732808 0.31 [{'connected_gene': 'PRTFDC1', 'score': 11.88}, {'connected_gene': 'ARHGAP21', 'score': 0.44}, {'connected_gene': 'LOC105376456', 'score': 0.25}, {'connected_gene': 'GC10P024495', 'score': 0.07}]
chr10 GH10I024825 24825156 24826801 0.85 [{'connected_gene': 'PRTFDC1', 'score': 11.45}, {'connected_gene': 'ARHGAP21', 'score': 10.13}, {'connected_gene': 'ENSG00000228667', 'score': 0.26}, {'connected_gene': 'LOC105376456', 'score': 0.25}]
chr10 GH10I024762 24762172 24763579 0.88 [{'connected_gene': 'PRTFDC1', 'score': 11.83}, {'connected_gene': 'ARHGAP21', 'score': 11.56}, {'connected_gene': 'LOC105376456', 'score': 0.37}, {'connected_gene': 'GC10P024495', 'score': 0.06}]
chr10 GH10I024622 24622501 24623787 0.52 [{'connected_gene': 'PRTFDC1', 'score': 11.42}, {'connected_gene': 'GC10P024641', 'score': 0.37}, {'connected_gene': 'PIR59453', 'score': 0.29}, {'connected_gene': 'ARHGAP21', 'score': 0.15}, {'connected_gene': 'GC10P024495', 'score': 0.13}]
chr10 GH10I024992 24992809 24994219 0.59 [{'connected_gene': 'ENKUR', 'score': 18.42}, {'connected_gene': 'THNSL1', 'score': 11.8}, {'connected_gene': 'ARHGAP21', 'score': 10.97}, {'connected_gene': 'PRTFDC1', 'score': 0.28}]
chr10 GH10I024772 24772412 24772621 0.2 [{'connected_gene': 'LOC105376456', 'score': 0.44}, {'connected_gene': 'ARHGAP21', 'score': 0.25}, {'connected_gene': 'GC10P024495', 'score': 0.06}]
chr10 GH10I024645 24645801 24646000 0.65 [{'connected_gene': 'RNA5SP305', 'score': 0.44}, {'connected_gene': 'GC10P024656', 'score': 0.44}, {'connected_gene': 'ARHGAP21', 'score': 0.18}, {'connected_gene': 'GC10P024495', 'score': 0.1}]
chr10 GH10I024642 24642801 24643400 1.05 [{'connected_gene': 'RNA5SP305', 'score': 0.77}, {'connected_gene': 'GC10P024656', 'score': 0.39}, {'connected_gene': 'ARHGAP21', 'score': 0.18}, {'connected_gene': 'GC10P024495', 'score': 0.11}]
chr10 GH10I024686 24686200 24686401 0.54 [{'connected_gene': 'COQ10BP1', 'score': 0.31}, {'connected_gene': 'ARHGAP21', 'score': 0.28}, {'connected_gene': 'GC10P024495', 'score': 0.08}]
chr10 GH10I024680 24680416 24682014 1.09 [{'connected_gene': 'COQ10BP1', 'score': 0.34}, {'connected_gene': 'ARHGAP21', 'score': 0.26}, {'connected_gene': 'GC10P024495', 'score': 0.09}]
chr10 GH10I024866 24866367 24867846 1.34 [{'connected_gene': 'ENSG00000228667', 'score': 550.77}, {'connected_gene': 'THNSL1', 'score': 4.46}, {'connected_gene': 'ARHGAP21', 'score': 1.63}, {'connected_gene': 'PRTFDC1', 'score': 0.17}, {'connected_gene': 'LOC105376456', 'score': 0.17}]
chr10 GH10I024617 24617784 24619089 0.8 [{'connected_gene': 'GC10P024641', 'score': 0.34}, {'connected_gene': 'PIR59453', 'score': 0.31}, {'connected_gene': 'ARHGAP21', 'score': 0.14}, {'connected_gene': 'GC10P024495', 'score': 0.13}]
chr10 GH10I024623 24622252 24622401 0.31 [{'connected_gene': 'GC10P024641', 'score': 0.37}, {'connected_gene': 'PIR59453', 'score': 0.29}, {'connected_gene': 'ARHGAP21', 'score': 0.15}, {'connected_gene': 'GC10P024495', 'score': 0.13}]
chr10 GH10I024620 24620052 24620201 0.43 [{'connected_gene': 'GC10P024641', 'score': 0.34}, {'connected_gene': 'PIR59453', 'score': 0.31}, {'connected_gene': 'ARHGAP21', 'score': 0.15}, {'connected_gene': 'GC10P024495', 'score': 0.13}]
chr10 GH10I024619 24619384 24619994 0.43 [{'connected_gene': 'GC10P024641', 'score': 0.34}, {'connected_gene': 'PIR59453', 'score': 0.31}, {'connected_gene': 'ARHGAP21', 'score': 0.15}, {'connected_gene': 'GC10P024495', 'score': 0.13}]
chr10 GH10I024909 24908440 24909981 0.98 [{'connected_gene': 'GC10M024909', 'score': 550.77}, {'connected_gene': 'RN7SKP241', 'score': 550.77}, {'connected_gene': 'ARHGAP21', 'score': 9.06}, {'connected_gene': 'PRTFDC1', 'score': 7.04}, {'connected_gene': 'ENSG00000273107', 'score': 0.26}]

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