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
ENST00000308664 [[110718920, 110719712], [110720408, 110720426], [110720517, 110720600], [110729824, 110729929], [110734403, 110734542], [110760796, 110760877], [110764194, 110764280], [110765357, 110765822], [110770401, 110770490], [110770985, 110771088], [110771816, 110771948], [110777085, 110777208], [110777307, 110777526], [110778463, 110778799], [110780032, 110780253], [110781036, 110781239], [110782690, 110782776], [110783053, 110783187], [110783805, 110783923], [110784005, 110784126], [110788096, 110788895]] [[110719594, 110719712], [110720408, 110720426], [110720517, 110720600], [110729824, 110729929], [110734403, 110734542], [110760796, 110760877], [110764194, 110764280], [110765357, 110765822], [110770401, 110770490], [110770985, 110771088], [110771816, 110771948], [110777085, 110777208], [110777307, 110777526], [110778463, 110778799], [110780032, 110780253], [110781036, 110781239], [110782690, 110782776], [110783053, 110783187], [110783805, 110783923], [110784005, 110784126], [110788096, 110788110]]
ENST00000395494 [[110719031, 110719712], [110720408, 110720426], [110720517, 110720600], [110729824, 110729929], [110734403, 110734542], [110764194, 110764280], [110765357, 110765822], [110770401, 110770490], [110770985, 110771088], [110771816, 110771948], [110777085, 110777208], [110777307, 110777526], [110778463, 110778799], [110780032, 110780253], [110781036, 110781239], [110782690, 110782776], [110783053, 110783187], [110783805, 110783923], [110784005, 110788893]] [[110719594, 110719712], [110720408, 110720426], [110720517, 110720600], [110729824, 110729929], [110734403, 110734542], [110764194, 110764280], [110765357, 110765822], [110770401, 110770490], [110770985, 110771088], [110771816, 110771948], [110777085, 110777208], [110777307, 110777526], [110778463, 110778799], [110780032, 110780253], [110781036, 110781239], [110782690, 110782776], [110783053, 110783187], [110783805, 110783923], [110784005, 110784275]]
ENST00000377685 [[110719101, 110719723], [110720517, 110720600], [110729824, 110729929], [110734403, 110734542], [110760796, 110760877], [110764194, 110764280], [110765357, 110765822], [110770401, 110770490], [110770985, 110771088], [110771816, 110771948], [110777085, 110777208], [110777307, 110777526], [110778463, 110778799], [110780032, 110780253], [110781036, 110781239], [110782690, 110782776], [110783053, 110783187], [110783805, 110783923], [110784005, 110785596], [110788096, 110788862]] [[110719594, 110719723], [110720517, 110720541]]
ENST00000539276 [[110719485, 110719712], [110720408, 110720426], [110720517, 110720600], [110729824, 110729929], [110734403, 110734542], [110760796, 110760877], [110764194, 110764280], [110765357, 110765822], [110770401, 110770490], [110770985, 110771088], [110771816, 110771948], [110777085, 110777208], [110777307, 110777526], [110778463, 110778799], [110780032, 110780253], [110781036, 110781239], [110782690, 110782776], [110783053, 110783187], [110783805, 110783923], [110784005, 110785131]] [[110719594, 110719712], [110720408, 110720426], [110720517, 110720600], [110729824, 110729929], [110734403, 110734542], [110760796, 110760877], [110764194, 110764280], [110765357, 110765822], [110770401, 110770490], [110770985, 110771088], [110771816, 110771948], [110777085, 110777208], [110777307, 110777526], [110778463, 110778799], [110780032, 110780253], [110781036, 110781239], [110782690, 110782776], [110783053, 110783187], [110783805, 110783923], [110784005, 110784275]]
ENST00000548169 [[110729853, 110729929], [110734403, 110734542], [110764194, 110764280], [110765357, 110765822], [110770401, 110770490], [110770985, 110771088], [110771816, 110771948], [110777085, 110777208], [110777307, 110777526], [110778463, 110778799], [110780032, 110780253], [110781036, 110781239], [110782690, 110782776], [110783053, 110783187], [110783805, 110783923], [110784005, 110784426]] [[110729853, 110729929], [110734403, 110734542], [110764194, 110764280], [110765357, 110765822], [110770401, 110770490], [110770985, 110771088], [110771816, 110771948], [110777085, 110777208], [110777307, 110777526], [110778463, 110778799], [110780032, 110780253], [110781036, 110781239], [110782690, 110782776], [110783053, 110783187], [110783805, 110783923], [110784005, 110784275]]
ENST00000550248 [[110733795, 110734119], [110734403, 110734542], [110760796, 110760877]] None
ENST00000552636 [[110718560, 110718769], [110720408, 110720426], [110720517, 110720600], [110729824, 110729929], [110734403, 110734517]] [[110729906, 110729929], [110734403, 110734515]]
ENST00000547050 [[110763605, 110764280], [110765357, 110765822], [110770401, 110770437]] None
ENST00000549840 [[110765491, 110765822], [110769776, 110769948]] None
ENST00000550262 [[110767203, 110770490], [110770985, 110771088], [110771816, 110772096]] None
ENST00000547792 [[110781060, 110781239], [110782690, 110783052]] None
ENST00000313432 [[110783241, 110783923], [110784005, 110788898]] None
ENST00000553144 [[110784005, 110784126], [110785197, 110785258], [110788096, 110788178]] [[110784005, 110784126], [110785197, 110785217]]
NM_001681 [[110719031, 110719712], [110720408, 110720426], [110720517, 110720600], [110729824, 110729929], [110734403, 110734542], [110760796, 110760877], [110764194, 110764280], [110765357, 110765822], [110770401, 110770490], [110770985, 110771088], [110771816, 110771948], [110777085, 110777208], [110777307, 110777526], [110778463, 110778799], [110780032, 110780253], [110781036, 110781239], [110782690, 110782776], [110783053, 110783187], [110783805, 110783923], [110784005, 110784126], [110788096, 110788898]] [[110719594, 110719712], [110720408, 110720426], [110720517, 110720600], [110729824, 110729929], [110734403, 110734542], [110760796, 110760877], [110764194, 110764280], [110765357, 110765822], [110770401, 110770490], [110770985, 110771088], [110771816, 110771948], [110777085, 110777208], [110777307, 110777526], [110778463, 110778799], [110780032, 110780253], [110781036, 110781239], [110782690, 110782776], [110783053, 110783187], [110783805, 110783923], [110784005, 110784126], [110788096, 110788110]]
NM_170665 [[110719031, 110719712], [110720408, 110720426], [110720517, 110720600], [110729824, 110729929], [110734403, 110734542], [110760796, 110760877], [110764194, 110764280], [110765357, 110765822], [110770401, 110770490], [110770985, 110771088], [110771816, 110771948], [110777085, 110777208], [110777307, 110777526], [110778463, 110778799], [110780032, 110780253], [110781036, 110781239], [110782690, 110782776], [110783053, 110783187], [110783805, 110783923], [110784005, 110788898]] [[110719594, 110719712], [110720408, 110720426], [110720517, 110720600], [110729824, 110729929], [110734403, 110734542], [110760796, 110760877], [110764194, 110764280], [110765357, 110765822], [110770401, 110770490], [110770985, 110771088], [110771816, 110771948], [110777085, 110777208], [110777307, 110777526], [110778463, 110778799], [110780032, 110780253], [110781036, 110781239], [110782690, 110782776], [110783053, 110783187], [110783805, 110783923], [110784005, 110784275]]
Promoter
Chrom Start End Description
chr12 110718407 110718426 CAGE_peak_14_at_ATP2A2_5end
chr12 110718428 110718445 CAGE_peak_12_at_ATP2A2_5end
chr12 110718986 110719006 CAGE_peak_3_at_ATP2A2_5end
chr12 110719036 110719113 CAGE_peak_1_at_ATP2A2_5end
chr12 110719114 110719128 CAGE_peak_2_at_ATP2A2_5end
chr12 110729465 110729468 CAGE_peak_19_at_ATP2A2_5end
chr12 110783092 110783125 CAGE_peak_10_at_ATP2A2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I110245 110245313 110251114 1.54 [{'connected_gene': 'GIT2', 'score': 10.88}, {'connected_gene': 'ANKRD13A', 'score': 10.88}, {'connected_gene': 'FAM216A', 'score': 9.02}, {'connected_gene': 'ATP2A2', 'score': 5.26}, {'connected_gene': 'GLTP', 'score': 4.23}, {'connected_gene': 'TRPV4', 'score': 1.27}, {'connected_gene': 'GC12P110250', 'score': 0.77}, {'connected_gene': 'GC12P110240', 'score': 0.44}]
chr12 GH12I109730 109730566 109733362 0.52 [{'connected_gene': 'TRPV4', 'score': 15.56}, {'connected_gene': 'FAM222A-AS1', 'score': 11.25}, {'connected_gene': 'GLTP', 'score': 10.83}, {'connected_gene': 'ENSG00000249094', 'score': 10.83}, {'connected_gene': 'FAM222A', 'score': 5.34}, {'connected_gene': 'ATP2A2', 'score': 4.39}, {'connected_gene': 'GC12P109715', 'score': 0.37}]
chr12 GH12I110302 110302731 110305002 0.51 [{'connected_gene': 'GPN3', 'score': 5.66}, {'connected_gene': 'ATP2A2', 'score': 0.34}, {'connected_gene': 'RN7SL769P', 'score': 0.22}, {'connected_gene': 'GC12M110365', 'score': 0.22}]
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 GH12I110279 110279965 110285675 2.26 [{'connected_gene': 'ATP2A2', 'score': 550.77}, {'connected_gene': 'GPN3', 'score': 26.0}, {'connected_gene': 'ARPC3', 'score': 22.85}, {'connected_gene': 'RNU4-32P', 'score': 10.98}, {'connected_gene': 'IFT81', 'score': 10.66}, {'connected_gene': 'UBE3B', 'score': 10.07}, {'connected_gene': 'RN7SL769P', 'score': 0.18}, {'connected_gene': 'GC12M110365', 'score': 0.18}]
chr12 GH12I110296 110296956 110297932 0.43 [{'connected_gene': 'ATP2A2', 'score': 0.37}, {'connected_gene': 'RN7SL769P', 'score': 0.21}, {'connected_gene': 'GC12M110365', 'score': 0.21}]
chr12 GH12I110300 110300776 110301826 0.38 [{'connected_gene': 'ATP2A2', 'score': 0.34}, {'connected_gene': 'RN7SL769P', 'score': 0.22}, {'connected_gene': 'GC12M110365', 'score': 0.22}]
chr12 GH12I110294 110294197 110294765 0.2 [{'connected_gene': 'ATP2A2', 'score': 0.39}, {'connected_gene': 'RN7SL769P', 'score': 0.2}, {'connected_gene': 'GC12M110365', 'score': 0.2}]
chr12 GH12I110353 110353469 110355000 1.37 [{'connected_gene': 'ATP2A2', 'score': 4.87}, {'connected_gene': 'RN7SL769P', 'score': 0.44}, {'connected_gene': 'GC12M110365', 'score': 0.44}]
chr12 GH12I110244 110244817 110245275 1.03 [{'connected_gene': 'ATP2A2', 'score': 6.93}, {'connected_gene': 'GC12P110240', 'score': 0.77}, {'connected_gene': 'GC12P110250', 'score': 0.44}]
chr12 GH12I110280 110279601 110279800 0.58 [{'connected_gene': 'ATP2A2', 'score': 550.77}, {'connected_gene': 'GC12P110277', 'score': 550.77}]
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 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 GH12I110311 110311667 110315707 1.19 [{'connected_gene': 'FAM216A', 'score': 8.98}, {'connected_gene': 'GLTP', 'score': 4.64}, {'connected_gene': 'ATP2A2', 'score': 0.29}, {'connected_gene': 'RN7SL769P', 'score': 0.25}, {'connected_gene': 'GC12M110365', 'score': 0.25}]
chr12 GH12I110574 110574052 110580300 1.71 [{'connected_gene': 'FAM216A', 'score': 22.74}, {'connected_gene': 'GPN3', 'score': 20.2}, {'connected_gene': 'ARPC3', 'score': 18.49}, {'connected_gene': 'TCTN1', 'score': 10.75}, {'connected_gene': 'GLTP', 'score': 9.78}, {'connected_gene': 'PPTC7', 'score': 5.72}, {'connected_gene': 'ATP2A2', 'score': 4.76}, {'connected_gene': 'VPS29', 'score': 0.18}]
chr12 GH12I110310 110310156 110311640 0.63 [{'connected_gene': 'FAM216A', 'score': 10.3}, {'connected_gene': 'ATP2A2', 'score': 0.29}, {'connected_gene': 'RN7SL769P', 'score': 0.25}, {'connected_gene': 'GC12M110365', 'score': 0.25}]
chr12 GH12I110287 110287796 110289753 0.59 [{'connected_gene': 'FAM216A', 'score': 10.33}, {'connected_gene': 'ATP2A2', 'score': 0.44}, {'connected_gene': 'RN7SL769P', 'score': 0.19}, {'connected_gene': 'GC12M110365', 'score': 0.19}]
chr12 GH12I110330 110330889 110331788 0.46 [{'connected_gene': 'FAM216A', 'score': 8.52}, {'connected_gene': 'RN7SL769P', 'score': 0.31}, {'connected_gene': 'GC12M110365', 'score': 0.31}, {'connected_gene': 'ATP2A2', 'score': 0.23}]
chr12 GH12I110580 110580896 110586245 2.47 [{'connected_gene': 'PPTC7', 'score': 554.27}, {'connected_gene': 'MYL2', 'score': 15.38}, {'connected_gene': 'FAM216A', 'score': 12.43}, {'connected_gene': 'ATP2A2', 'score': 11.6}, {'connected_gene': 'GPN3', 'score': 8.95}, {'connected_gene': 'GLTP', 'score': 4.23}, {'connected_gene': 'ARPC3', 'score': 1.57}, {'connected_gene': 'TCTN1', 'score': 0.29}]
chr12 GH12I110349 110349146 110350400 0.94 [{'connected_gene': 'RN7SL769P', 'score': 0.39}, {'connected_gene': 'GC12M110365', 'score': 0.39}, {'connected_gene': 'ATP2A2', 'score': 0.2}]
chr12 GH12I110355 110355196 110355345 0.83 [{'connected_gene': 'RN7SL769P', 'score': 0.44}, {'connected_gene': 'GC12M110365', 'score': 0.44}, {'connected_gene': 'ATP2A2', 'score': 0.19}]
chr12 GH12I110352 110352516 110352665 0.2 [{'connected_gene': 'RN7SL769P', 'score': 0.44}, {'connected_gene': 'GC12M110365', 'score': 0.44}, {'connected_gene': 'ATP2A2', 'score': 0.19}]
chr12 GH12I110315 110315801 110318671 0.94 [{'connected_gene': 'ARPC3', 'score': 21.7}, {'connected_gene': 'GLTP', 'score': 4.64}, {'connected_gene': 'ATP2A2', 'score': 0.28}, {'connected_gene': 'RN7SL769P', 'score': 0.26}, {'connected_gene': 'GC12M110365', 'score': 0.26}]
chr12 GH12I110295 110295648 110296517 0.46 [{'connected_gene': 'ARPC3', 'score': 17.94}, {'connected_gene': 'ATP2A2', 'score': 0.37}, {'connected_gene': 'RN7SL769P', 'score': 0.21}, {'connected_gene': 'GC12M110365', 'score': 0.21}]
chr12 GH12I110343 110343843 110346451 1.05 [{'connected_gene': 'ARPC3', 'score': 22.24}, {'connected_gene': 'FAM216A', 'score': 10.28}, {'connected_gene': 'RN7SL769P', 'score': 0.37}, {'connected_gene': 'GC12M110365', 'score': 0.37}, {'connected_gene': 'ATP2A2', 'score': 0.21}]
chr12 GH12I110223 110223289 110225611 1.18 [{'connected_gene': 'GC12P110223', 'score': 550.77}, {'connected_gene': 'GC12P110225', 'score': 550.77}, {'connected_gene': 'GC12P110226', 'score': 550.77}, {'connected_gene': 'ANKRD13A', 'score': 11.05}, {'connected_gene': 'GIT2', 'score': 11.05}, {'connected_gene': 'GLTP', 'score': 9.72}, {'connected_gene': 'FAM216A', 'score': 8.69}, {'connected_gene': 'ATP2A2', 'score': 5.33}]
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}]

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