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
ENST00000309050 [[110478964, 110480264], [110494993, 110495101], [110496792, 110496968], [110503664, 110503838], [110505294, 110505500]] [[110480155, 110480264], [110494993, 110495101], [110496792, 110496968], [110503664, 110503679]]
ENST00000548936 [[110479915, 110480264], [110511226, 110511439]] None
ENST00000548191 [[110487164, 110489103], [110511226, 110511491]] [[110488786, 110489103], [110511226, 110511233]]
ENST00000546651 [[110465871, 110466394], [110486167, 110486360]] [[110466377, 110466394], [110486167, 110486300]]
ENST00000549724 [[110479699, 110480264], [110486167, 110486675], [110486861, 110487090]] [[110480178, 110480264], [110486167, 110486300]]
ENST00000551185 [[110480085, 110480264], [110482224, 110482338], [110486167, 110486370]] [[110482240, 110482338], [110486167, 110486300]]
ENST00000546627 [[110480116, 110480417], [110486167, 110486327]] [[110480364, 110480417], [110486167, 110486300]]
ENST00000547573 [[110481921, 110482338], [110486167, 110486357]] [[110482240, 110482338], [110486167, 110486300]]
NM_207435 [[110478981, 110480264], [110494993, 110495101], [110496792, 110496968], [110503664, 110503838], [110505294, 110505500]] [[110480155, 110480264], [110494993, 110495101], [110496792, 110496968], [110503664, 110503679]]
Promoter
Chrom Start End Description
chr12 110486281 110486345 CAGE_peak_1_at_C12orf76_5end
chr12 110486348 110486366 CAGE_peak_2_at_C12orf76_5end
chr12 110511284 110511316 CAGE_peak_3_at_C12orf76_5end
chr12 110511319 110511338 CAGE_peak_4_at_C12orf76_5end
chr12 110511424 110511445 CAGE_peak_5_at_C12orf76_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I110061 110061080 110061098 0.59 [{'connected_gene': 'GIT2', 'score': 10.77}, {'connected_gene': 'ANKRD13A', 'score': 10.76}, {'connected_gene': 'TRPV4', 'score': 1.66}, {'connected_gene': 'GC12P110058', 'score': 0.77}, {'connected_gene': 'C12orf76', 'score': 0.34}]
chr12 GH12I110084 110084663 110085394 0.38 [{'connected_gene': 'GIT2', 'score': 10.73}, {'connected_gene': 'ANKRD13A', 'score': 10.73}, {'connected_gene': 'C12orf76', 'score': 0.77}, {'connected_gene': 'LOC105369976', 'score': 0.37}]
chr12 GH12I109997 109997305 110006561 2.32 [{'connected_gene': 'ANKRD13A', 'score': 561.1}, {'connected_gene': 'RNU4-32P', 'score': 23.82}, {'connected_gene': 'FAM216A', 'score': 20.48}, {'connected_gene': 'ARPC3', 'score': 17.28}, {'connected_gene': 'IFT81', 'score': 11.76}, {'connected_gene': 'GLTP', 'score': 7.06}, {'connected_gene': 'GIT2', 'score': 6.64}, {'connected_gene': 'C12orf76', 'score': 5.57}, {'connected_gene': 'ENSG00000280426', 'score': 0.77}, {'connected_gene': 'ENSG00000277595', 'score': 0.29}]
chr12 GH12I109625 109625114 109625486 1.02 [{'connected_gene': 'FAM222A', 'score': 14.94}, {'connected_gene': 'MMAB', 'score': 10.96}, {'connected_gene': 'MVK', 'score': 10.96}, {'connected_gene': 'RNU4-32P', 'score': 10.95}, {'connected_gene': 'C12orf76', 'score': 2.23}, {'connected_gene': 'TCHP', 'score': 1.3}, {'connected_gene': 'GC12M109613', 'score': 0.44}, {'connected_gene': 'RN7SKP250', 'score': 0.28}, {'connected_gene': 'GC12M109663', 'score': 0.28}]
chr12 GH12I109966 109966281 109969085 0.79 [{'connected_gene': 'TRPV4', 'score': 15.97}, {'connected_gene': 'GIT2', 'score': 12.43}, {'connected_gene': 'ANKRD13A', 'score': 12.23}, {'connected_gene': 'TCHP', 'score': 11.55}, {'connected_gene': 'C12orf76', 'score': 10.18}, {'connected_gene': 'GLTP', 'score': 5.93}, {'connected_gene': 'ENSG00000277299', 'score': 0.37}]
chr12 GH12I110026 110026575 110027567 0.51 [{'connected_gene': 'GLTP', 'score': 4.38}, {'connected_gene': 'ENSG00000277595', 'score': 0.44}, {'connected_gene': 'ANKRD13A', 'score': 0.31}, {'connected_gene': 'C12orf76', 'score': 0.22}]
chr12 GH12I109885 109885256 109886216 0.69 [{'connected_gene': 'GLTP', 'score': 7.84}, {'connected_gene': 'HVCN1', 'score': 4.77}, {'connected_gene': 'C12orf76', 'score': 4.69}, {'connected_gene': 'TCHP', 'score': 0.44}, {'connected_gene': 'ENSG00000249094', 'score': 0.44}, {'connected_gene': 'PIR43904', 'score': 0.29}]
chr12 GH12I109878 109878836 109882221 2.41 [{'connected_gene': 'GLTP', 'score': 565.03}, {'connected_gene': 'TCHP', 'score': 550.77}, {'connected_gene': 'ENSG00000249094', 'score': 550.77}, {'connected_gene': 'RNU4-32P', 'score': 11.47}, {'connected_gene': 'KCTD10', 'score': 11.15}, {'connected_gene': 'IFT81', 'score': 10.62}, {'connected_gene': 'ANKRD13A', 'score': 10.46}, {'connected_gene': 'PPP1CC', 'score': 10.14}, {'connected_gene': 'FAM216A', 'score': 9.89}, {'connected_gene': 'UBE3B', 'score': 9.72}, {'connected_gene': 'ALKBH2', 'score': 9.66}, {'connected_gene': 'C12orf76', 'score': 3.73}, {'connected_gene': 'FAM222A', 'score': 1.27}]
chr12 GH12I110010 110010002 110013553 1.25 [{'connected_gene': 'GLTP', 'score': 12.86}, {'connected_gene': 'TRPV4', 'score': 7.86}, {'connected_gene': 'GIT2', 'score': 6.57}, {'connected_gene': 'C12orf76', 'score': 5.67}, {'connected_gene': 'ANKRD13A', 'score': 0.39}, {'connected_gene': 'ENSG00000277595', 'score': 0.34}]
chr12 GH12I110134 110134556 110136013 0.62 [{'connected_gene': 'GPN3', 'score': 21.77}, {'connected_gene': 'C12orf76', 'score': 11.54}, {'connected_gene': 'FAM216A', 'score': 9.64}, {'connected_gene': 'IFT81', 'score': 0.39}, {'connected_gene': 'GC12P110223', 'score': 0.17}]
chr12 GH12I110077 110075874 110076234 0.38 [{'connected_gene': 'GPN3', 'score': 16.81}, {'connected_gene': 'C12orf76', 'score': 0.44}, {'connected_gene': 'GC12P110058', 'score': 0.37}]
chr12 GH12I110175 110175923 110177660 0.38 [{'connected_gene': 'GPN3', 'score': 22.36}, {'connected_gene': 'IFT81', 'score': 12.06}, {'connected_gene': 'C12orf76', 'score': 10.4}, {'connected_gene': 'GC12P110223', 'score': 0.25}]
chr12 GH12I110266 110266076 110268285 1.58 [{'connected_gene': 'GPN3', 'score': 22.66}, {'connected_gene': 'RNU4-32P', 'score': 10.85}, {'connected_gene': 'IFT81', 'score': 10.76}, {'connected_gene': 'C12orf76', 'score': 10.74}, {'connected_gene': 'UBE3B', 'score': 9.81}, {'connected_gene': 'ATP2A2', 'score': 4.93}, {'connected_gene': 'PPTC7', 'score': 1.93}, {'connected_gene': 'GC12P110274', 'score': 0.44}, {'connected_gene': 'GC12P110258', 'score': 0.44}]
chr12 GH12I110052 110052077 110053063 0.31 [{'connected_gene': 'C12orf76', 'score': 17.92}, {'connected_gene': 'ANKRD13A', 'score': 11.49}, {'connected_gene': 'GIT2', 'score': 11.48}, {'connected_gene': 'TRPV4', 'score': 7.48}, {'connected_gene': 'GLTP', 'score': 5.97}, {'connected_gene': 'ENSG00000279360', 'score': 0.77}, {'connected_gene': 'GC12P110049', 'score': 0.77}]
chr12 GH12I110047 110046516 110046665 0.79 [{'connected_gene': 'C12orf76', 'score': 12.3}, {'connected_gene': 'ANKRD13A', 'score': 11.98}, {'connected_gene': 'GIT2', 'score': 11.97}, {'connected_gene': 'GC12P110049', 'score': 0.77}, {'connected_gene': 'PIR31988', 'score': 0.44}]
chr12 GH12I110019 110019406 110021553 0.31 [{'connected_gene': 'C12orf76', 'score': 5.61}, {'connected_gene': 'ENSG00000277595', 'score': 0.39}, {'connected_gene': 'ANKRD13A', 'score': 0.34}]
chr12 GH12I110695 110695401 110695600 0.51 [{'connected_gene': 'C12orf76', 'score': 13.17}, {'connected_gene': 'HVCN1', 'score': 0.44}, {'connected_gene': 'RN7SL387P', 'score': 0.2}]
chr12 GH12I110192 110192818 110194346 0.38 [{'connected_gene': 'C12orf76', 'score': 10.67}, {'connected_gene': 'GLTP', 'score': 4.19}, {'connected_gene': 'GC12P110223', 'score': 0.29}, {'connected_gene': 'IFT81', 'score': 0.2}]
chr12 GH12I110211 110211184 110212859 0.59 [{'connected_gene': 'C12orf76', 'score': 10.59}, {'connected_gene': 'GPN3', 'score': 5.05}, {'connected_gene': 'GC12P110223', 'score': 0.39}, {'connected_gene': 'IFT81', 'score': 0.17}]
chr12 GH12I110120 110120642 110121531 0.38 [{'connected_gene': 'C12orf76', 'score': 12.29}, {'connected_gene': 'FAM216A', 'score': 10.04}, {'connected_gene': 'GLTP', 'score': 6.61}, {'connected_gene': 'IFT81', 'score': 0.77}, {'connected_gene': 'LOC105369976', 'score': 0.37}]
chr12 GH12I110339 110339999 110341403 0.46 [{'connected_gene': 'C12orf76', 'score': 11.23}, {'connected_gene': 'FAM216A', 'score': 10.52}, {'connected_gene': 'RN7SL769P', 'score': 0.34}, {'connected_gene': 'GC12M110365', 'score': 0.34}, {'connected_gene': 'ATP2A2', 'score': 0.22}]
chr12 GH12I110117 110117536 110118690 0.81 [{'connected_gene': 'C12orf76', 'score': 12.01}, {'connected_gene': 'IFT81', 'score': 0.44}, {'connected_gene': 'LOC105369976', 'score': 0.37}]
chr12 GH12I110165 110165796 110166065 0.38 [{'connected_gene': 'C12orf76', 'score': 11.42}, {'connected_gene': 'IFT81', 'score': 0.26}, {'connected_gene': 'GC12P110223', 'score': 0.22}]
chr12 GH12I110198 110198470 110200807 0.98 [{'connected_gene': 'C12orf76', 'score': 10.95}, {'connected_gene': 'GC12P110223', 'score': 0.34}, {'connected_gene': 'IFT81', 'score': 0.18}]
chr12 GH12I110170 110170353 110171683 0.2 [{'connected_gene': 'C12orf76', 'score': 11.41}, {'connected_gene': 'IFT81', 'score': 0.25}, {'connected_gene': 'GC12P110223', 'score': 0.23}]
chr12 GH12I110338 110338765 110339825 0.79 [{'connected_gene': 'C12orf76', 'score': 10.18}, {'connected_gene': 'RN7SL769P', 'score': 0.34}, {'connected_gene': 'GC12M110365', 'score': 0.34}, {'connected_gene': 'ATP2A2', 'score': 0.22}]
chr12 GH12I110336 110336514 110337751 0.31 [{'connected_gene': 'C12orf76', 'score': 10.18}, {'connected_gene': 'RN7SL769P', 'score': 0.34}, {'connected_gene': 'GC12M110365', 'score': 0.34}, {'connected_gene': 'ATP2A2', 'score': 0.22}]
chr12 GH12I110068 110068078 110071278 0.64 [{'connected_gene': 'FAM216A', 'score': 6.06}, {'connected_gene': 'GLTP', 'score': 4.45}, {'connected_gene': 'GC12P110058', 'score': 0.39}, {'connected_gene': 'C12orf76', 'score': 0.39}]
chr12 GH12I110090 110090508 110092331 0.86 [{'connected_gene': 'FAM216A', 'score': 8.93}, {'connected_gene': 'C12orf76', 'score': 0.44}, {'connected_gene': 'LOC105369976', 'score': 0.39}]
chr12 GH12I110073 110073009 110074613 1.35 [{'connected_gene': 'FAM216A', 'score': 6.08}, {'connected_gene': 'C12orf76', 'score': 0.44}, {'connected_gene': 'GC12P110058', 'score': 0.37}]
chr12 GH12I110123 110123756 110125425 2 [{'connected_gene': 'IFT81', 'score': 570.62}, {'connected_gene': 'ARPC3', 'score': 21.85}, {'connected_gene': 'C12orf76', 'score': 12.28}, {'connected_gene': 'UBE3B', 'score': 11.91}, {'connected_gene': 'TCTN1', 'score': 10.97}, {'connected_gene': 'FAM216A', 'score': 8.36}, {'connected_gene': 'GC12P110223', 'score': 0.15}]
chr12 GH12I110928 110928721 110932412 1.35 [{'connected_gene': 'IFT81', 'score': 20.47}, {'connected_gene': 'LINC01405', 'score': 15.66}, {'connected_gene': 'MAPKAPK5', 'score': 13.31}, {'connected_gene': 'C12orf76', 'score': 13.17}, {'connected_gene': 'RPS2P41', 'score': 10.05}, {'connected_gene': 'ATXN2', 'score': 10.03}, {'connected_gene': 'PPP1CC', 'score': 9.99}, {'connected_gene': 'MYL2', 'score': 0.44}, {'connected_gene': 'GC12P110917', 'score': 0.39}]
chr12 GH12I110271 110271505 110271978 0.82 [{'connected_gene': 'RNU4-32P', 'score': 10.85}, {'connected_gene': 'IFT81', 'score': 10.76}, {'connected_gene': 'C12orf76', 'score': 10.25}, {'connected_gene': 'UBE3B', 'score': 9.81}, {'connected_gene': 'GC12P110274', 'score': 0.77}, {'connected_gene': 'GC12P110258', 'score': 0.39}]
chr12 GH12I110099 110099816 110101521 1.12 [{'connected_gene': 'LOC105369976', 'score': 550.77}, {'connected_gene': 'ARPC3', 'score': 22.61}, {'connected_gene': 'C12orf76', 'score': 0.37}]
chr12 GH12I110075 110075397 110075783 0.2 [{'connected_gene': 'ARPC3', 'score': 8.91}, {'connected_gene': 'TRPV4', 'score': 7.21}, {'connected_gene': 'C12orf76', 'score': 0.44}, {'connected_gene': 'GC12P110058', 'score': 0.37}]
chr12 GH12I110065 110065196 110066386 0.46 [{'connected_gene': 'ARPC3', 'score': 20.11}, {'connected_gene': 'GLTP', 'score': 6.2}, {'connected_gene': 'FAM216A', 'score': 5.45}, {'connected_gene': 'GC12P110058', 'score': 0.44}, {'connected_gene': 'C12orf76', 'score': 0.37}]
chr12 GH12I110384 110384044 110385227 0.49 [{'connected_gene': 'ARPC3', 'score': 13.15}, {'connected_gene': 'GPN3', 'score': 11.4}, {'connected_gene': 'ANKRD13A', 'score': 11.29}, {'connected_gene': 'GIT2', 'score': 11.29}, {'connected_gene': 'C12orf76', 'score': 10.32}, {'connected_gene': 'GLTP', 'score': 4.31}, {'connected_gene': 'IFT81', 'score': 4.07}, {'connected_gene': 'PIR50264', 'score': 0.39}, {'connected_gene': 'PIR42470', 'score': 0.39}, {'connected_gene': 'ANAPC7', 'score': 0.37}]
chr12 GH12I109980 109980352 109984300 0.2 [{'connected_gene': 'ARPC3', 'score': 17.39}, {'connected_gene': 'C12orf76', 'score': 15.72}, {'connected_gene': 'GIT2', 'score': 6.6}, {'connected_gene': 'GLTP', 'score': 5.91}, {'connected_gene': 'ENSG00000277299', 'score': 0.29}, {'connected_gene': 'TCHP', 'score': 0.15}]
chr12 GH12I110269 110269125 110271259 1.35 [{'connected_gene': 'ARPC3', 'score': 22.29}, {'connected_gene': 'C12orf76', 'score': 10.74}, {'connected_gene': 'FAM216A', 'score': 8.74}, {'connected_gene': 'GLTP', 'score': 4.24}, {'connected_gene': 'GC12P110274', 'score': 0.77}, {'connected_gene': 'GC12P110258', 'score': 0.39}]
chr12 GH12I110088 110088001 110089540 0.49 [{'connected_gene': 'ARPC3', 'score': 19.86}, {'connected_gene': 'C12orf76', 'score': 0.44}, {'connected_gene': 'LOC105369976', 'score': 0.39}]
chr12 GH12I110076 110076788 110078256 0.31 [{'connected_gene': 'ARPC3', 'score': 23.56}, {'connected_gene': 'C12orf76', 'score': 0.77}, {'connected_gene': 'GC12P110058', 'score': 0.37}]
chr12 GH12I110078 110078800 110080477 1.72 [{'connected_gene': 'ARPC3', 'score': 22.94}, {'connected_gene': 'RNU4-32P', 'score': 21.66}, {'connected_gene': 'IFT81', 'score': 10.91}, {'connected_gene': 'ALKBH2', 'score': 10.63}, {'connected_gene': 'UBE3B', 'score': 9.81}, {'connected_gene': 'C12orf76', 'score': 3.64}, {'connected_gene': 'RAD9B', 'score': 2.67}, {'connected_gene': 'GIT2', 'score': 1.52}, {'connected_gene': 'GC12P110058', 'score': 0.34}]
chr12 GH12I110059 110059782 110060866 1.4 [{'connected_gene': 'GC12P110058', 'score': 550.77}, {'connected_gene': 'GIT2', 'score': 10.77}, {'connected_gene': 'ANKRD13A', 'score': 10.76}, {'connected_gene': 'ALKBH2', 'score': 9.67}, {'connected_gene': 'TRPV4', 'score': 7.14}, {'connected_gene': 'GLTP', 'score': 7.04}, {'connected_gene': 'C12orf76', 'score': 0.34}]
chr12 GH12I110036 110036774 110044235 1.41 [{'connected_gene': 'PIR31988', 'score': 550.77}, {'connected_gene': 'TRPV4', 'score': 17.43}, {'connected_gene': 'IFT81', 'score': 16.16}, {'connected_gene': 'ALKBH2', 'score': 13.12}, {'connected_gene': 'GIT2', 'score': 12.51}, {'connected_gene': 'ANKRD13A', 'score': 12.3}, {'connected_gene': 'C12orf76', 'score': 12.29}, {'connected_gene': 'RNU4-32P', 'score': 9.75}, {'connected_gene': 'TCTN1', 'score': 9.7}, {'connected_gene': 'GLTP', 'score': 5.98}, {'connected_gene': 'PIR56187', 'score': 0.77}, {'connected_gene': 'GC12P110040', 'score': 0.77}, {'connected_gene': 'GC12P110049', 'score': 0.44}]
chr12 GH12I110056 110056922 110058056 0.38 [{'connected_gene': 'ENSG00000279360', 'score': 550.77}, {'connected_gene': 'GC12P110058', 'score': 550.77}, {'connected_gene': 'GLTP', 'score': 16.66}, {'connected_gene': 'ANKRD13A', 'score': 11.34}, {'connected_gene': 'GIT2', 'score': 11.32}, {'connected_gene': 'C12orf76', 'score': 5.59}]
chr12 GH12I110054 110054881 110056777 1.34 [{'connected_gene': 'ENSG00000279360', 'score': 550.77}, {'connected_gene': 'C12orf76', 'score': 12.48}, {'connected_gene': 'GIT2', 'score': 11.48}, {'connected_gene': 'ANKRD13A', 'score': 11.48}, {'connected_gene': 'GLTP', 'score': 6.37}, {'connected_gene': 'GC12P110049', 'score': 0.44}]
chr12 GH12I110277 110277976 110279091 0.49 [{'connected_gene': 'GC12P110277', 'score': 550.77}, {'connected_gene': 'C12orf76', 'score': 10.24}, {'connected_gene': 'FAM216A', 'score': 10.21}, {'connected_gene': 'ATP2A2', 'score': 0.77}]
chr12 GH12I110046 110046866 110049920 1.82 [{'connected_gene': 'GC12P110049', 'score': 550.77}, {'connected_gene': 'C12orf76', 'score': 18.32}, {'connected_gene': 'RNU4-32P', 'score': 12.13}, {'connected_gene': 'ANKRD13A', 'score': 11.98}, {'connected_gene': 'GIT2', 'score': 11.97}, {'connected_gene': 'TRPV4', 'score': 7.51}, {'connected_gene': 'GLTP', 'score': 5.87}, {'connected_gene': 'PIR31988', 'score': 0.44}]

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