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
ENST00000265801 [[20103675, 20107874], [20110292, 20111096], [20112347, 20112803]] [[20107232, 20107874], [20110292, 20111096], [20112347, 20112692]]
ENST00000381569 [[20103675, 20107874], [20110292, 20111096], [20112347, 20112826], [20161250, 20161474]] [[20107232, 20107874], [20110292, 20111096], [20112347, 20112692]]
ENST00000522290 [[20107232, 20107445], [20107622, 20107874], [20110292, 20111096], [20112347, 20112692]] [[20107232, 20107445], [20107622, 20107874], [20110292, 20111096], [20112347, 20112692]]
NM_021020 [[20103675, 20107874], [20110292, 20111096], [20112347, 20112803]] [[20107232, 20107874], [20110292, 20111096], [20112347, 20112692]]
Promoter
Chrom Start End Description
chr8 20161443 20161462 CAGE_peak_2_at_LZTS1_5end
chr8 20161466 20161481 CAGE_peak_1_at_LZTS1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I125568 125568800 125571266 2.05 [{'connected_gene': 'EI24', 'score': 550.77}, {'connected_gene': 'FEZ1', 'score': 12.48}, {'connected_gene': 'DDX25', 'score': 8.5}, {'connected_gene': 'PUS3', 'score': 5.34}, {'connected_gene': 'RNU6-1156P', 'score': 0.77}, {'connected_gene': 'STT3A-AS1', 'score': 0.34}]
chr11 GH11I125463 125463147 125467495 0.59 [{'connected_gene': 'EI24', 'score': 10.41}, {'connected_gene': 'RNU6-1156P', 'score': 10.4}, {'connected_gene': 'GC11P125484', 'score': 0.37}, {'connected_gene': 'GC11P125442', 'score': 0.34}, {'connected_gene': 'FEZ1', 'score': 0.29}]
chr11 GH11I125490 125490883 125492107 0.31 [{'connected_gene': 'EI24', 'score': 11.11}, {'connected_gene': 'RNU6-1156P', 'score': 11.1}, {'connected_gene': 'CHEK1', 'score': 6.82}, {'connected_gene': 'LOC403312', 'score': 0.77}, {'connected_gene': 'FEZ1', 'score': 0.77}, {'connected_gene': 'GC11P125484', 'score': 0.44}]
chr11 GH11I125407 125407886 125409522 0.31 [{'connected_gene': 'PKNOX2', 'score': 10.26}, {'connected_gene': 'PKNOX2-AS1', 'score': 10.26}, {'connected_gene': 'ENSG00000255475', 'score': 9.73}, {'connected_gene': 'FEZ1', 'score': 5.57}, {'connected_gene': 'GC11P125401', 'score': 0.44}, {'connected_gene': 'GC11P125428', 'score': 0.37}]
chr8 GH08I020310 20310184 20311815 0.87 [{'connected_gene': 'INTS10', 'score': 20.2}, {'connected_gene': 'RNU6-892P', 'score': 11.11}, {'connected_gene': 'LZTS1', 'score': 0.44}, {'connected_gene': 'LOC105379314', 'score': 0.29}]
chr8 GH08I020281 20281751 20284004 0.83 [{'connected_gene': 'INTS10', 'score': 13.36}, {'connected_gene': 'LZTS1-AS1', 'score': 0.44}, {'connected_gene': 'RNA5SP257', 'score': 0.44}, {'connected_gene': 'LZTS1', 'score': 0.34}]
chr8 GH08I020206 20206679 20206996 0.52 [{'connected_gene': 'ATP6V1B2', 'score': 28.61}, {'connected_gene': 'RNU6-892P', 'score': 11.63}, {'connected_gene': 'SLC18A1', 'score': 10.72}, {'connected_gene': 'LZTS1', 'score': 10.14}, {'connected_gene': 'GC08P020230', 'score': 0.34}]
chr11 GH11I126060 126060635 126064105 2.24 [{'connected_gene': 'CDON', 'score': 556.09}, {'connected_gene': 'TIRAP', 'score': 27.29}, {'connected_gene': 'STT3A', 'score': 25.54}, {'connected_gene': 'TMEM218', 'score': 25.1}, {'connected_gene': 'FEZ1', 'score': 11.29}, {'connected_gene': 'SRPRA', 'score': 10.12}, {'connected_gene': 'PIR48177', 'score': 0.23}]
chr11 GH11I125467 125467969 125469572 0.49 [{'connected_gene': 'LOC403312', 'score': 11.47}, {'connected_gene': 'FEZ1', 'score': 11.47}, {'connected_gene': 'PATE4', 'score': 5.12}, {'connected_gene': 'GC11P125484', 'score': 0.37}, {'connected_gene': 'GC11P125442', 'score': 0.31}]
chr11 GH11I125591 125591163 125594304 2.08 [{'connected_gene': 'STT3A', 'score': 562.43}, {'connected_gene': 'STT3A-AS1', 'score': 550.77}, {'connected_gene': 'HP11014', 'score': 38.61}, {'connected_gene': 'TMEM218', 'score': 22.92}, {'connected_gene': 'CHEK1', 'score': 22.75}, {'connected_gene': 'MSANTD2', 'score': 20.59}, {'connected_gene': 'ENSG00000254509', 'score': 14.18}, {'connected_gene': 'TIRAP', 'score': 12.38}, {'connected_gene': 'ENSG00000254694', 'score': 12.23}, {'connected_gene': 'EI24', 'score': 11.93}, {'connected_gene': 'CDON', 'score': 10.0}, {'connected_gene': 'DDX25', 'score': 7.52}, {'connected_gene': 'FEZ1', 'score': 5.59}, {'connected_gene': 'PUS3', 'score': 4.47}]
chr11 GH11I125455 125455021 125456794 0.2 [{'connected_gene': 'DDX25', 'score': 9.12}, {'connected_gene': 'GC11P125442', 'score': 0.37}, {'connected_gene': 'GC11P125484', 'score': 0.31}, {'connected_gene': 'FEZ1', 'score': 0.26}]
chr11 GH11I125474 125474903 125487755 0.59 [{'connected_gene': 'FEZ1', 'score': 11.55}, {'connected_gene': 'EI24', 'score': 10.55}, {'connected_gene': 'RNU6-1156P', 'score': 10.54}, {'connected_gene': 'DDX25', 'score': 8.01}, {'connected_gene': 'PUS3', 'score': 6.66}, {'connected_gene': 'CHEK1', 'score': 5.85}, {'connected_gene': 'PATE4', 'score': 4.74}, {'connected_gene': 'GC11P125484', 'score': 0.77}, {'connected_gene': 'GC11P125442', 'score': 0.26}]
chr11 GH11I125505 125505486 125506616 0.31 [{'connected_gene': 'FEZ1', 'score': 11.76}, {'connected_gene': 'EI24', 'score': 0.21}]
chr11 GH11I125509 125509007 125510164 0.49 [{'connected_gene': 'FEZ1', 'score': 6.93}, {'connected_gene': 'EI24', 'score': 0.22}]
chr11 GH11I125457 125457568 125458650 1.31 [{'connected_gene': 'FEZ1', 'score': 5.97}, {'connected_gene': 'PKNOX2', 'score': 1.54}, {'connected_gene': 'DDX25', 'score': 1.44}, {'connected_gene': 'GC11P125442', 'score': 0.37}, {'connected_gene': 'GC11P125484', 'score': 0.31}]
chr11 GH11I125493 125493968 125496887 2.27 [{'connected_gene': 'FEZ1', 'score': 561.72}, {'connected_gene': 'LOC403312', 'score': 550.77}, {'connected_gene': 'PUS3', 'score': 5.24}, {'connected_gene': 'DDX25', 'score': 2.16}, {'connected_gene': 'PKNOX2', 'score': 1.45}]
chr11 GH11I125470 125470537 125470590 0.45 [{'connected_gene': 'FEZ1', 'score': 17.61}, {'connected_gene': 'LOC403312', 'score': 11.24}, {'connected_gene': 'PKNOX2', 'score': 1.64}, {'connected_gene': 'DDX25', 'score': 1.6}, {'connected_gene': 'GC11P125484', 'score': 0.39}, {'connected_gene': 'GC11P125442', 'score': 0.31}]
chr8 GH08I020325 20325256 20325626 0.22 [{'connected_gene': 'LZTS1', 'score': 12.14}, {'connected_gene': 'RNU6-892P', 'score': 10.63}, {'connected_gene': 'LOC105379314', 'score': 0.37}]
chr8 GH08I020353 20353190 20353439 0.43 [{'connected_gene': 'LZTS1', 'score': 11.69}, {'connected_gene': 'RNU6-892P', 'score': 11.39}, {'connected_gene': 'LOC105379314', 'score': 0.44}, {'connected_gene': 'GC08P020510', 'score': 0.1}]
chr8 GH08I020354 20353570 20353719 0.2 [{'connected_gene': 'LZTS1', 'score': 11.69}, {'connected_gene': 'RNU6-892P', 'score': 11.39}, {'connected_gene': 'LOC105379314', 'score': 0.39}, {'connected_gene': 'GC08P020510', 'score': 0.1}]
chr8 GH08I020255 20255319 20255378 0.5 [{'connected_gene': 'LZTS1', 'score': 561.34}, {'connected_gene': 'RNU6-892P', 'score': 12.73}, {'connected_gene': 'LZTS1-AS1', 'score': 0.34}]
chr8 GH08I020250 20249110 20249259 0.2 [{'connected_gene': 'LZTS1', 'score': 11.33}, {'connected_gene': 'RNU6-892P', 'score': 0.37}, {'connected_gene': 'LZTS1-AS1', 'score': 0.31}]
chr8 GH08I020248 20248870 20249019 0.2 [{'connected_gene': 'LZTS1', 'score': 11.32}, {'connected_gene': 'RNU6-892P', 'score': 0.37}, {'connected_gene': 'LZTS1-AS1', 'score': 0.31}]
chr8 GH08I020270 20270030 20270179 0.4 [{'connected_gene': 'LZTS1', 'score': 17.94}, {'connected_gene': 'RNU6-892P', 'score': 11.4}, {'connected_gene': 'LZTS1-AS1', 'score': 0.44}]
chr8 GH08I020247 20247115 20248532 0.31 [{'connected_gene': 'LZTS1', 'score': 11.69}, {'connected_gene': 'RNU6-892P', 'score': 0.37}, {'connected_gene': 'LZTS1-AS1', 'score': 0.31}]
chr8 GH08I020267 20267165 20269958 1.16 [{'connected_gene': 'LZTS1', 'score': 25.22}, {'connected_gene': 'RNU6-892P', 'score': 11.42}, {'connected_gene': 'LZTS1-AS1', 'score': 0.44}]
chr8 GH08I020264 20264394 20266098 0.86 [{'connected_gene': 'LZTS1', 'score': 24.48}, {'connected_gene': 'RNU6-892P', 'score': 11.42}, {'connected_gene': 'LZTS1-AS1', 'score': 0.39}]
chr8 GH08I020327 20327731 20330252 0.79 [{'connected_gene': 'LZTS1', 'score': 11.75}, {'connected_gene': 'LOC105379314', 'score': 0.39}]
chr8 GH08I020302 20302394 20304983 1.42 [{'connected_gene': 'LZTS1', 'score': 550.77}, {'connected_gene': 'RNA5SP257', 'score': 0.39}]
chr11 GH11I125459 125459917 125461886 0.31 [{'connected_gene': 'FEZ1', 'score': 9.26}, {'connected_gene': 'GC11P125442', 'score': 0.34}, {'connected_gene': 'GC11P125484', 'score': 0.34}]
chr11 GH11I125443 125443066 125444801 0.51 [{'connected_gene': 'FEZ1', 'score': 9.58}, {'connected_gene': 'GC11P125442', 'score': 0.77}, {'connected_gene': 'GC11P125484', 'score': 0.26}]
chr11 GH11I125434 125434268 125434282 0.45 [{'connected_gene': 'FEZ1', 'score': 1.7}, {'connected_gene': 'PIR57808', 'score': 0.77}, {'connected_gene': 'GC11P125442', 'score': 0.44}]
chr11 GH11I125447 125447725 125448669 0.4 [{'connected_gene': 'FEZ1', 'score': 9.71}, {'connected_gene': 'GC11P125442', 'score': 0.44}, {'connected_gene': 'GC11P125484', 'score': 0.28}]
chr11 GH11I125511 125511873 125517845 1.33 [{'connected_gene': 'CHEK1', 'score': 18.21}, {'connected_gene': 'FEZ1', 'score': 12.74}, {'connected_gene': 'EI24', 'score': 11.56}, {'connected_gene': 'RNU6-1156P', 'score': 11.0}, {'connected_gene': 'DDX25', 'score': 9.25}, {'connected_gene': 'SLC37A2', 'score': 4.6}]
chr11 GH11I125621 125621712 125622683 0.57 [{'connected_gene': 'CHEK1', 'score': 10.58}, {'connected_gene': 'FEZ1', 'score': 5.43}, {'connected_gene': 'STT3A-AS1', 'score': 0.31}, {'connected_gene': 'STT3A', 'score': 0.29}]
chr11 GH11I125624 125624374 125627766 2.11 [{'connected_gene': 'CHEK1', 'score': 562.92}, {'connected_gene': 'HP11014', 'score': 35.3}, {'connected_gene': 'TMEM218', 'score': 34.82}, {'connected_gene': 'TIRAP', 'score': 26.43}, {'connected_gene': 'MSANTD2', 'score': 21.8}, {'connected_gene': 'FEZ1', 'score': 15.73}, {'connected_gene': 'STT3A', 'score': 13.6}, {'connected_gene': 'CCDC15', 'score': 12.93}, {'connected_gene': 'ACRV1', 'score': 4.89}, {'connected_gene': 'PUS3', 'score': 4.8}, {'connected_gene': 'RNU2-35P', 'score': 0.34}]
chr8 GH08I020208 20208871 20210064 0.2 [{'connected_gene': 'RNU6-892P', 'score': 11.63}, {'connected_gene': 'SLC18A1', 'score': 11.08}, {'connected_gene': 'LZTS1', 'score': 10.15}, {'connected_gene': 'ATP6V1B2', 'score': 0.39}, {'connected_gene': 'GC08P020230', 'score': 0.34}]
chr8 GH08I020380 20380870 20381019 0.65 [{'connected_gene': 'RNU6-892P', 'score': 12.28}, {'connected_gene': 'LZTS1', 'score': 10.85}, {'connected_gene': 'LOC105379314', 'score': 0.28}, {'connected_gene': 'GC08P020510', 'score': 0.13}]
chr8 GH08I020377 20376330 20376499 0.7 [{'connected_gene': 'RNU6-892P', 'score': 12.79}, {'connected_gene': 'LZTS1', 'score': 10.5}, {'connected_gene': 'LOC105379314', 'score': 0.29}, {'connected_gene': 'GC08P020510', 'score': 0.12}]
chr8 GH08I020376 20376530 20376679 0.67 [{'connected_gene': 'RNU6-892P', 'score': 12.79}, {'connected_gene': 'LZTS1', 'score': 10.5}, {'connected_gene': 'LOC105379314', 'score': 0.29}, {'connected_gene': 'GC08P020510', 'score': 0.12}]
chr8 GH08I020305 20305395 20308066 0.83 [{'connected_gene': 'RNU6-892P', 'score': 10.42}, {'connected_gene': 'LZTS1', 'score': 0.77}, {'connected_gene': 'LOC105379314', 'score': 0.28}]
chr8 GH08I020308 20308259 20309204 0.2 [{'connected_gene': 'RNU6-892P', 'score': 10.39}, {'connected_gene': 'LZTS1', 'score': 0.77}, {'connected_gene': 'LOC105379314', 'score': 0.29}]
chr8 GH08I020312 20312423 20313730 0.83 [{'connected_gene': 'RNU6-892P', 'score': 11.14}, {'connected_gene': 'LZTS1', 'score': 0.44}, {'connected_gene': 'LOC105379314', 'score': 0.29}]
chr8 GH08I020263 20263390 20263539 0.51 [{'connected_gene': 'RNU6-892P', 'score': 11.76}, {'connected_gene': 'LZTS1', 'score': 11.59}, {'connected_gene': 'LZTS1-AS1', 'score': 0.39}]
chr8 GH08I020249 20249890 20250039 0.2 [{'connected_gene': 'RNU6-892P', 'score': 12.76}, {'connected_gene': 'LZTS1', 'score': 11.33}, {'connected_gene': 'LZTS1-AS1', 'score': 0.31}]
chr8 GH08I020253 20253015 20255170 0.38 [{'connected_gene': 'RNU6-892P', 'score': 12.76}, {'connected_gene': 'LZTS1', 'score': 11.34}, {'connected_gene': 'LZTS1-AS1', 'score': 0.34}]
chr8 GH08I020251 20251984 20252099 0.2 [{'connected_gene': 'RNU6-892P', 'score': 12.76}, {'connected_gene': 'LZTS1', 'score': 11.33}, {'connected_gene': 'LZTS1-AS1', 'score': 0.34}]
chr8 GH08I020261 20261710 20261799 0.63 [{'connected_gene': 'RNU6-892P', 'score': 11.71}, {'connected_gene': 'LZTS1', 'score': 11.06}, {'connected_gene': 'LZTS1-AS1', 'score': 0.39}]
chr8 GH08I020279 20279835 20280928 0.66 [{'connected_gene': 'RNU6-892P', 'score': 10.77}, {'connected_gene': 'LZTS1-AS1', 'score': 0.77}, {'connected_gene': 'RNA5SP257', 'score': 0.44}, {'connected_gene': 'LZTS1', 'score': 0.34}]
chr11 GH11I125594 125594801 125595400 0.38 [{'connected_gene': 'RNU6-1156P', 'score': 11.93}, {'connected_gene': 'EI24', 'score': 11.9}, {'connected_gene': 'CHEK1', 'score': 11.86}, {'connected_gene': 'DDX25', 'score': 8.88}, {'connected_gene': 'FEZ1', 'score': 5.64}, {'connected_gene': 'STT3A-AS1', 'score': 0.77}, {'connected_gene': 'STT3A', 'score': 0.77}]
chr11 GH11I125275 125275965 125276209 0.75 [{'connected_gene': 'RNU6-321P', 'score': 550.77}, {'connected_gene': 'PKNOX2', 'score': 2.54}, {'connected_gene': 'FEZ1', 'score': 1.43}, {'connected_gene': 'GC11M125262', 'score': 0.44}]
chr11 GH11I125437 125437776 125439355 0.2 [{'connected_gene': 'RNU6-321P', 'score': 9.28}, {'connected_gene': 'FEZ1', 'score': 8.85}, {'connected_gene': 'CHEK1', 'score': 4.63}, {'connected_gene': 'GC11P125442', 'score': 0.77}, {'connected_gene': 'PIR57808', 'score': 0.44}]
chr8 GH08I020348 20348869 20350414 0.43 [{'connected_gene': 'LOC105379314', 'score': 19.39}, {'connected_gene': 'LZTS1', 'score': 11.69}, {'connected_gene': 'RNU6-892P', 'score': 11.39}, {'connected_gene': 'GC08P020510', 'score': 0.1}]
chr8 GH08I020434 20434801 20437819 1.19 [{'connected_gene': 'LOC105379314', 'score': 16.99}, {'connected_gene': 'LZTS1', 'score': 10.15}, {'connected_gene': 'GC08P020510', 'score': 0.19}]
chr8 GH08I020378 20377387 20379943 0.31 [{'connected_gene': 'LOC105379314', 'score': 19.35}, {'connected_gene': 'RNU6-892P', 'score': 12.79}, {'connected_gene': 'LZTS1', 'score': 10.78}, {'connected_gene': 'GC08P020510', 'score': 0.12}]
chr11 GH11I126418 126418050 126428170 1.61 [{'connected_gene': 'HP11014', 'score': 28.37}, {'connected_gene': 'ST3GAL4', 'score': 16.85}, {'connected_gene': 'DCPS', 'score': 11.96}, {'connected_gene': 'FAM118B', 'score': 9.59}, {'connected_gene': 'RPUSD4', 'score': 9.59}, {'connected_gene': 'ENSG00000254694', 'score': 9.59}, {'connected_gene': 'LOC105369558', 'score': 8.8}, {'connected_gene': 'FEZ1', 'score': 5.16}, {'connected_gene': 'ENSG00000278215', 'score': 0.25}, {'connected_gene': 'KIRREL3-AS1', 'score': 0.13}, {'connected_gene': 'KIRREL3', 'score': 0.03}]
chr11 GH11I125424 125424392 125427282 0.31 [{'connected_gene': 'LOC105369549', 'score': 9.81}, {'connected_gene': 'CHEK1', 'score': 5.41}, {'connected_gene': 'HP11014', 'score': 5.25}, {'connected_gene': 'FEZ1', 'score': 4.9}, {'connected_gene': 'GC11P125428', 'score': 0.77}, {'connected_gene': 'GC11P125401', 'score': 0.31}, {'connected_gene': 'PKNOX2', 'score': 0.07}]
chr8 GH08I020276 20276591 20278115 1.18 [{'connected_gene': 'LZTS1-AS1', 'score': 550.77}, {'connected_gene': 'LZTS1', 'score': 14.43}, {'connected_gene': 'INTS10', 'score': 11.63}, {'connected_gene': 'RNU6-892P', 'score': 10.78}, {'connected_gene': 'RNA5SP257', 'score': 0.39}]
chr8 GH08I020273 20273307 20274600 0.92 [{'connected_gene': 'LZTS1-AS1', 'score': 550.77}, {'connected_gene': 'LZTS1', 'score': 26.2}, {'connected_gene': 'RNU6-892P', 'score': 11.13}]
chr8 GH08I020274 20274850 20274999 0.4 [{'connected_gene': 'LZTS1-AS1', 'score': 550.77}, {'connected_gene': 'LZTS1', 'score': 27.0}, {'connected_gene': 'RNU6-892P', 'score': 11.11}]
chr8 GH08I020294 20294374 20295602 0.43 [{'connected_gene': 'RNA5SP257', 'score': 0.77}, {'connected_gene': 'LZTS1', 'score': 0.44}]
chr8 GH08I020287 20287923 20290323 0.72 [{'connected_gene': 'RNA5SP257', 'score': 550.77}, {'connected_gene': 'LZTS1-AS1', 'score': 0.39}, {'connected_gene': 'LZTS1', 'score': 0.39}]
chr11 GH11I125453 125453928 125454783 0.54 [{'connected_gene': 'GC11P125442', 'score': 0.39}, {'connected_gene': 'GC11P125484', 'score': 0.31}, {'connected_gene': 'FEZ1', 'score': 0.26}]
chr11 GH11I125450 125450270 125450868 0.2 [{'connected_gene': 'GC11P125442', 'score': 0.44}, {'connected_gene': 'GC11P125484', 'score': 0.29}, {'connected_gene': 'FEZ1', 'score': 0.25}]
chr11 GH11I125441 125441285 125442217 0.63 [{'connected_gene': 'GC11P125442', 'score': 550.77}, {'connected_gene': 'FEZ1', 'score': 9.47}, {'connected_gene': 'GC11P125484', 'score': 0.26}]
chr11 GH11I125451 125451074 125453001 1.11 [{'connected_gene': 'GC11P125442', 'score': 0.39}, {'connected_gene': 'GC11P125484', 'score': 0.29}, {'connected_gene': 'FEZ1', 'score': 0.26}]