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
ENST00000373242 [[71907044, 71912348], [71913593, 71913725], [71917519, 71917623], [71920759, 71920825], [71921374, 71921494], [71921613, 71921687], [71922445, 71922515], [71930168, 71930279]] [[71912231, 71912348], [71913593, 71913725], [71917519, 71917623], [71920759, 71920825], [71921374, 71921494], [71921613, 71921671]]
ENST00000373238 [[71909959, 71912348], [71913593, 71913725], [71917519, 71917623], [71920759, 71920825], [71921374, 71921494], [71921613, 71921687], [71922445, 71922787]] [[71912231, 71912348], [71913593, 71913725], [71917519, 71917623], [71920759, 71920825], [71921374, 71921494], [71921613, 71921671]]
ENST00000373241 [[71909959, 71912348], [71913593, 71913725], [71917519, 71917623], [71920759, 71920825], [71921374, 71921494], [71921613, 71921687], [71930168, 71930279]] [[71912231, 71912348], [71913593, 71913725], [71917519, 71917623], [71920759, 71920825], [71921374, 71921494], [71921613, 71921671]]
ENST00000431664 [[71909978, 71911134], [71911174, 71912348], [71913593, 71913725], [71917519, 71917623], [71920759, 71920825], [71921374, 71921494], [71921613, 71921671]] [[71912231, 71912348], [71913593, 71913725], [71917519, 71917623], [71920759, 71920825], [71921374, 71921494], [71921613, 71921671]]
ENST00000458634 [[71911712, 71912348], [71913593, 71913725], [71917519, 71917623], [71920759, 71920825], [71921374, 71921458], [71930168, 71930228]] [[71912231, 71912348], [71913593, 71913725], [71917519, 71917623], [71920759, 71920825], [71921374, 71921423]]
ENST00000452767 [[71911905, 71912348], [71913593, 71913725], [71914843, 71914880], [71917519, 71917579]] [[71912231, 71912348], [71913593, 71913725], [71914843, 71914880], [71917519, 71917579]]
ENST00000373236 [[71917430, 71917623], [71920759, 71920825], [71921374, 71921494], [71921613, 71921671]] [[71917501, 71917623], [71920759, 71920825], [71921374, 71921494], [71921613, 71921671]]
ENST00000477464 [[71921039, 71921494], [71921613, 71921687]] None
ENST00000373239 [[71921400, 71921494], [71921613, 71921687], [71926482, 71926578], [71927177, 71927281], [71930168, 71930268]] [[71921400, 71921494], [71921613, 71921671]]
NM_001142648 [[71909959, 71912348], [71913593, 71913725], [71917519, 71917623], [71920759, 71920825], [71921374, 71921494], [71921613, 71921687], [71922445, 71922515], [71930168, 71930285]] [[71912231, 71912348], [71913593, 71913725], [71917519, 71917623], [71920759, 71920825], [71921374, 71921494], [71921613, 71921671]]
NM_020150 [[71909959, 71912348], [71913593, 71913725], [71917519, 71917623], [71920759, 71920825], [71921374, 71921494], [71921613, 71921687], [71930168, 71930285]] [[71912231, 71912348], [71913593, 71913725], [71917519, 71917623], [71920759, 71920825], [71921374, 71921494], [71921613, 71921671]]
Promoter
Chrom Start End Description
chr10 71911012 71911014 CAGE_peak_2_at_SAR1A_5end
chr10 71921983 71922014 CAGE_peak_11_at_SAR1A_5end
chr10 71922082 71922091 CAGE_peak_13_at_SAR1A_5end
chr10 71930222 71930280 CAGE_peak_1_at_SAR1A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I070166 70166705 70166854 0.38 [{'connected_gene': 'AIFM2', 'score': 17.94}, {'connected_gene': 'SAR1A', 'score': 0.77}, {'connected_gene': 'CALM2P2', 'score': 0.77}]
chr10 GH10I070286 70286707 70286970 0.36 [{'connected_gene': 'AIFM2', 'score': 8.78}, {'connected_gene': 'SAR1A', 'score': 1.26}, {'connected_gene': 'NPFFR1', 'score': 0.77}, {'connected_gene': 'LRRC20', 'score': 0.15}]
chr10 GH10I070130 70130246 70133644 2.23 [{'connected_gene': 'AIFM2', 'score': 556.16}, {'connected_gene': 'SAR1A', 'score': 30.09}, {'connected_gene': 'PPA1', 'score': 14.38}, {'connected_gene': 'PIR50368', 'score': 0.37}]
chr10 GH10I070173 70173673 70175045 1.06 [{'connected_gene': 'AIFM2', 'score': 29.06}, {'connected_gene': 'TYSND1', 'score': 12.42}, {'connected_gene': 'SAR1A', 'score': 0.77}, {'connected_gene': 'RPS25P9', 'score': 0.34}]
chr10 GH10I070164 70164401 70164600 0.43 [{'connected_gene': 'CALM2P2', 'score': 550.77}, {'connected_gene': 'SAR1A', 'score': 0.44}]
chr10 GH10I069219 69219544 69226996 1.94 [{'connected_gene': 'HKDC1', 'score': 565.6}, {'connected_gene': 'SUPV3L1', 'score': 17.96}, {'connected_gene': 'CCAR1', 'score': 13.97}, {'connected_gene': 'DDX50', 'score': 12.87}, {'connected_gene': 'HNRNPH3', 'score': 11.98}, {'connected_gene': 'SAR1A', 'score': 11.38}, {'connected_gene': 'ENSG00000231748', 'score': 11.03}, {'connected_gene': 'HK1', 'score': 11.02}, {'connected_gene': 'RPL26P27', 'score': 10.98}, {'connected_gene': 'LOC101928994', 'score': 0.44}]
chr10 GH10I069227 69227643 69231334 1.35 [{'connected_gene': 'HKDC1', 'score': 15.01}, {'connected_gene': 'DDX21', 'score': 14.24}, {'connected_gene': 'CCAR1', 'score': 13.97}, {'connected_gene': 'DDX50', 'score': 12.87}, {'connected_gene': 'HNRNPH3', 'score': 11.98}, {'connected_gene': 'ENSG00000231748', 'score': 11.46}, {'connected_gene': 'HK1', 'score': 11.45}, {'connected_gene': 'SAR1A', 'score': 11.38}, {'connected_gene': 'RPL26P27', 'score': 10.98}, {'connected_gene': 'SUPV3L1', 'score': 4.81}, {'connected_gene': 'LOC101928994', 'score': 0.77}]
chr10 GH10I069179 69179012 69182306 2.11 [{'connected_gene': 'SUPV3L1', 'score': 558.01}, {'connected_gene': 'CCAR1', 'score': 92.78}, {'connected_gene': 'DDX50', 'score': 84.45}, {'connected_gene': 'HNRNPH3', 'score': 45.57}, {'connected_gene': 'TYSND1', 'score': 38.9}, {'connected_gene': 'SAR1A', 'score': 29.27}, {'connected_gene': 'DDX21', 'score': 23.57}, {'connected_gene': 'RPL26P27', 'score': 19.07}, {'connected_gene': 'VPS26A', 'score': 13.67}, {'connected_gene': 'HKDC1', 'score': 12.18}, {'connected_gene': 'LOC101928994', 'score': 5.97}]
chr10 GH10I070331 70331099 70332600 1.38 [{'connected_gene': 'NPFFR1', 'score': 12.27}, {'connected_gene': 'PPA1', 'score': 11.27}, {'connected_gene': 'CALM2P2', 'score': 10.22}, {'connected_gene': 'SAR1A', 'score': 10.22}, {'connected_gene': 'TYSND1', 'score': 10.21}, {'connected_gene': 'LRRC20', 'score': 0.23}]
chr10 GH10I070342 70342489 70344392 0.52 [{'connected_gene': 'NPFFR1', 'score': 11.49}, {'connected_gene': 'PPA1', 'score': 11.41}, {'connected_gene': 'CALM2P2', 'score': 10.32}, {'connected_gene': 'SAR1A', 'score': 10.32}, {'connected_gene': 'TYSND1', 'score': 10.11}, {'connected_gene': 'NODAL', 'score': 9.35}, {'connected_gene': 'LRRC20', 'score': 6.35}]
chr10 GH10I070337 70337245 70337394 0.2 [{'connected_gene': 'NPFFR1', 'score': 11.51}, {'connected_gene': 'PPA1', 'score': 11.04}, {'connected_gene': 'SAR1A', 'score': 9.77}, {'connected_gene': 'CALM2P2', 'score': 9.76}, {'connected_gene': 'TYSND1', 'score': 9.75}, {'connected_gene': 'LRRC20', 'score': 0.25}]
chr10 GH10I070338 70337485 70337634 0.2 [{'connected_gene': 'NPFFR1', 'score': 11.51}, {'connected_gene': 'PPA1', 'score': 11.04}, {'connected_gene': 'SAR1A', 'score': 9.77}, {'connected_gene': 'CALM2P2', 'score': 9.76}, {'connected_gene': 'TYSND1', 'score': 9.75}, {'connected_gene': 'LRRC20', 'score': 0.25}]
chr10 GH10I070089 70089949 70094003 1.06 [{'connected_gene': 'NPFFR1', 'score': 15.52}, {'connected_gene': 'TYSND1', 'score': 11.1}, {'connected_gene': 'CALM2P2', 'score': 11.06}, {'connected_gene': 'SAR1A', 'score': 11.05}, {'connected_gene': 'LRRC20', 'score': 4.93}, {'connected_gene': 'PIR45222', 'score': 0.44}, {'connected_gene': 'H2AFY2', 'score': 0.28}]
chr10 GH10I070168 70168788 70171535 2.04 [{'connected_gene': 'SAR1A', 'score': 563.02}, {'connected_gene': 'AIFM2', 'score': 27.56}, {'connected_gene': 'TYSND1', 'score': 12.44}, {'connected_gene': 'PPA1', 'score': 5.26}, {'connected_gene': 'CALM2P2', 'score': 0.44}]
chr10 GH10I070588 70588068 70591653 1.12 [{'connected_gene': 'SAR1A', 'score': 11.35}, {'connected_gene': 'PCBD1', 'score': 10.67}, {'connected_gene': 'ADAMTS14', 'score': 9.69}, {'connected_gene': 'PRF1', 'score': 0.39}, {'connected_gene': 'YY1P1', 'score': 0.15}]
chr10 GH10I070558 70558614 70563399 1.4 [{'connected_gene': 'SAR1A', 'score': 11.4}, {'connected_gene': 'TYSND1', 'score': 10.12}, {'connected_gene': 'ADAMTS14', 'score': 4.79}, {'connected_gene': 'PRF1', 'score': 0.26}, {'connected_gene': 'YY1P1', 'score': 0.19}, {'connected_gene': 'PALD1', 'score': 0.15}]
chr10 GH10I069407 69407665 69411425 1.96 [{'connected_gene': 'CCAR1', 'score': 23.43}, {'connected_gene': 'DDX50', 'score': 17.46}, {'connected_gene': 'TACR2', 'score': 12.12}, {'connected_gene': 'HK1', 'score': 11.82}, {'connected_gene': 'SAR1A', 'score': 11.33}, {'connected_gene': 'HKDC1', 'score': 10.95}, {'connected_gene': 'ENSG00000231748', 'score': 10.51}, {'connected_gene': 'RPL26P27', 'score': 9.79}, {'connected_gene': 'TSPAN15', 'score': 7.52}, {'connected_gene': 'SRGN', 'score': 3.17}, {'connected_gene': 'VPS26A', 'score': 1.62}, {'connected_gene': 'RPS15AP28', 'score': 0.14}]
chr10 GH10I069325 69325402 69341401 1.41 [{'connected_gene': 'CCAR1', 'score': 33.86}, {'connected_gene': 'DDX50', 'score': 23.51}, {'connected_gene': 'SAR1A', 'score': 19.56}, {'connected_gene': 'HK1', 'score': 18.73}, {'connected_gene': 'RPL26P27', 'score': 14.05}, {'connected_gene': 'MIR1254-1', 'score': 11.46}, {'connected_gene': 'ENSG00000231748', 'score': 11.05}, {'connected_gene': 'TYSND1', 'score': 10.13}, {'connected_gene': 'DDX21', 'score': 9.71}, {'connected_gene': 'STOX1', 'score': 5.39}, {'connected_gene': 'RPS15AP28', 'score': 0.29}, {'connected_gene': 'TACR2', 'score': 0.18}]
chr10 GH10I069695 69695555 69696774 0.72 [{'connected_gene': 'CCAR1', 'score': 15.86}, {'connected_gene': 'SAR1A', 'score': 14.2}, {'connected_gene': 'DDX50', 'score': 13.78}, {'connected_gene': 'COL13A1', 'score': 10.93}, {'connected_gene': 'FAM241B', 'score': 10.74}, {'connected_gene': 'GC10P069687', 'score': 0.44}, {'connected_gene': 'RPL5P26', 'score': 0.18}]
chr10 GH10I070081 70081066 70081466 0.55 [{'connected_gene': 'H2AFY2', 'score': 11.63}, {'connected_gene': 'TYSND1', 'score': 10.52}, {'connected_gene': 'CALM2P2', 'score': 10.49}, {'connected_gene': 'SAR1A', 'score': 10.48}, {'connected_gene': 'PIR45222', 'score': 0.37}]
chr10 GH10I070349 70349885 70351027 0.31 [{'connected_gene': 'LRRC20', 'score': 11.68}, {'connected_gene': 'CEP57L1P1', 'score': 11.66}, {'connected_gene': 'NPFFR1', 'score': 11.35}, {'connected_gene': 'SAR1A', 'score': 10.18}, {'connected_gene': 'CALM2P2', 'score': 10.17}, {'connected_gene': 'TYSND1', 'score': 10.16}, {'connected_gene': 'NODAL', 'score': 9.43}]
chr10 GH10I070190 70190137 70194529 0.96 [{'connected_gene': 'PPA1', 'score': 62.41}, {'connected_gene': 'AIFM2', 'score': 16.33}, {'connected_gene': 'SAR1A', 'score': 12.15}, {'connected_gene': 'CALM2P2', 'score': 12.12}, {'connected_gene': 'TYSND1', 'score': 12.06}, {'connected_gene': 'RPS25P9', 'score': 0.44}]
chr10 GH10I070231 70231683 70235779 2.28 [{'connected_gene': 'PPA1', 'score': 612.3}, {'connected_gene': 'AIFM2', 'score': 14.02}, {'connected_gene': 'SAR1A', 'score': 12.52}, {'connected_gene': 'NPFFR1', 'score': 11.13}, {'connected_gene': 'GC10M070217', 'score': 0.37}]
chr10 GH10I070258 70258088 70259514 0.65 [{'connected_gene': 'PPA1', 'score': 13.19}, {'connected_gene': 'NPFFR1', 'score': 12.04}, {'connected_gene': 'SAR1A', 'score': 10.27}, {'connected_gene': 'CALM2P2', 'score': 10.26}, {'connected_gene': 'TYSND1', 'score': 10.24}]
chr10 GH10I070137 70137432 70137494 0.84 [{'connected_gene': 'PPA1', 'score': 8.25}, {'connected_gene': 'SAR1A', 'score': 6.4}, {'connected_gene': 'AIFM2', 'score': 0.77}, {'connected_gene': 'PIR42845', 'score': 0.44}]
chr10 GH10I070221 70221228 70223422 1.02 [{'connected_gene': 'PPA1', 'score': 58.75}, {'connected_gene': 'SAR1A', 'score': 23.99}, {'connected_gene': 'CEP57L1P1', 'score': 11.86}, {'connected_gene': 'LRRC20', 'score': 11.86}, {'connected_gene': 'CALM2P2', 'score': 11.45}, {'connected_gene': 'NPFFR1', 'score': 11.18}, {'connected_gene': 'TYSND1', 'score': 11.13}, {'connected_gene': 'GC10M070217', 'score': 0.77}]
chr10 GH10I069315 69315097 69322298 2.53 [{'connected_gene': 'HK1', 'score': 578.84}, {'connected_gene': 'TYSND1', 'score': 24.86}, {'connected_gene': 'DDX50', 'score': 21.16}, {'connected_gene': 'DDX21', 'score': 13.78}, {'connected_gene': 'ENSG00000231748', 'score': 11.95}, {'connected_gene': 'CCAR1', 'score': 11.64}, {'connected_gene': 'HKDC1', 'score': 10.25}, {'connected_gene': 'SAR1A', 'score': 10.08}, {'connected_gene': 'FAM241B', 'score': 9.84}, {'connected_gene': 'RPS15AP28', 'score': 0.37}, {'connected_gene': 'TACR2', 'score': 0.15}]
chr10 GH10I070108 70108355 70108587 0.38 [{'connected_gene': 'TYSND1', 'score': 10.85}, {'connected_gene': 'CALM2P2', 'score': 10.8}, {'connected_gene': 'SAR1A', 'score': 10.78}, {'connected_gene': 'PIR50368', 'score': 0.44}, {'connected_gene': 'PIR45222', 'score': 0.39}, {'connected_gene': 'AIFM2', 'score': 0.34}, {'connected_gene': 'H2AFY2', 'score': 0.22}]
chr10 GH10I070107 70107345 70107514 0.77 [{'connected_gene': 'TYSND1', 'score': 10.85}, {'connected_gene': 'CALM2P2', 'score': 10.8}, {'connected_gene': 'SAR1A', 'score': 10.78}, {'connected_gene': 'PIR50368', 'score': 0.44}, {'connected_gene': 'PIR45222', 'score': 0.39}, {'connected_gene': 'AIFM2', 'score': 0.31}, {'connected_gene': 'H2AFY2', 'score': 0.23}]
chr10 GH10I070116 70116285 70116474 0.71 [{'connected_gene': 'TYSND1', 'score': 11.73}, {'connected_gene': 'CALM2P2', 'score': 11.68}, {'connected_gene': 'SAR1A', 'score': 11.67}, {'connected_gene': 'PIR50368', 'score': 0.77}, {'connected_gene': 'AIFM2', 'score': 0.37}]
chr10 GH10I070119 70119673 70121702 0.43 [{'connected_gene': 'TYSND1', 'score': 11.81}, {'connected_gene': 'CALM2P2', 'score': 11.76}, {'connected_gene': 'SAR1A', 'score': 11.75}, {'connected_gene': 'PIR50368', 'score': 0.44}, {'connected_gene': 'AIFM2', 'score': 0.39}]
chr10 GH10I070117 70116485 70116674 0.7 [{'connected_gene': 'TYSND1', 'score': 11.73}, {'connected_gene': 'CALM2P2', 'score': 11.68}, {'connected_gene': 'SAR1A', 'score': 11.67}, {'connected_gene': 'PIR50368', 'score': 0.77}, {'connected_gene': 'AIFM2', 'score': 0.37}]
chr10 GH10I070122 70122143 70122885 0.6 [{'connected_gene': 'TYSND1', 'score': 11.84}, {'connected_gene': 'CALM2P2', 'score': 11.76}, {'connected_gene': 'SAR1A', 'score': 11.75}, {'connected_gene': 'PIR50368', 'score': 0.44}, {'connected_gene': 'AIFM2', 'score': 0.39}]
chr10 GH10I070123 70123264 70124337 0.43 [{'connected_gene': 'TYSND1', 'score': 12.21}, {'connected_gene': 'CALM2P2', 'score': 12.15}, {'connected_gene': 'SAR1A', 'score': 12.12}, {'connected_gene': 'NPFFR1', 'score': 9.57}, {'connected_gene': 'PIR50368', 'score': 0.44}, {'connected_gene': 'AIFM2', 'score': 0.44}]
chr10 GH10I069629 69629645 69630801 1.96 [{'connected_gene': 'FAM241B', 'score': 562.98}, {'connected_gene': 'CCAR1', 'score': 15.86}, {'connected_gene': 'SAR1A', 'score': 14.18}, {'connected_gene': 'DDX50', 'score': 13.78}, {'connected_gene': 'MTND1P20', 'score': 0.29}]
chr10 GH10I070512 70512147 70512692 0.63 [{'connected_gene': 'EIF4EBP2', 'score': 10.37}, {'connected_gene': 'SAR1A', 'score': 9.74}, {'connected_gene': 'YY1P1', 'score': 0.31}, {'connected_gene': 'PALD1', 'score': 0.23}, {'connected_gene': 'PRF1', 'score': 0.16}]
chr10 GH10I070671 70671617 70675823 2.43 [{'connected_gene': 'ADAMTS14', 'score': 581.42}, {'connected_gene': 'SAR1A', 'score': 11.38}, {'connected_gene': 'TBATA', 'score': 0.14}]
chr10 GH10I070661 70661324 70666126 1.59 [{'connected_gene': 'ADAMTS14', 'score': 28.18}, {'connected_gene': 'SAR1A', 'score': 11.34}, {'connected_gene': 'GC10M070611', 'score': 0.25}]
chr10 GH10I070161 70161922 70164266 0.91 [{'connected_gene': 'GC10M070161', 'score': 550.77}, {'connected_gene': 'CALM2P2', 'score': 550.77}, {'connected_gene': 'AIFM2', 'score': 17.94}, {'connected_gene': 'PPA1', 'score': 7.35}, {'connected_gene': 'SAR1A', 'score': 0.44}]
chr10 GH10I070144 70144884 70147981 2.26 [{'connected_gene': 'PIR42845', 'score': 550.77}, {'connected_gene': 'PIR38078', 'score': 550.77}, {'connected_gene': 'GC10M070148', 'score': 550.77}, {'connected_gene': 'TYSND1', 'score': 550.77}, {'connected_gene': 'PPA1', 'score': 23.73}, {'connected_gene': 'AIFM2', 'score': 18.04}, {'connected_gene': 'SAR1A', 'score': 13.0}]

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