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
ENST00000399497 [[76831808, 76832506], [76841061, 76841128], [76841890, 76841953], [76842103, 76842276], [76846887, 76846964], [76852366, 76852457], [76857261, 76857388], [76861153, 76861318], [76861896, 76862166]] [[76832503, 76832506], [76841061, 76841128], [76841890, 76841953], [76842103, 76842276], [76846887, 76846964], [76852366, 76852457], [76857261, 76857388], [76861153, 76861318], [76861896, 76862102]]
ENST00000286733 [[76834812, 76835491], [76836020, 76836138], [76839913, 76839942], [76841061, 76841128], [76841890, 76841953], [76842103, 76842276], [76846887, 76846964], [76852366, 76852457], [76857261, 76857388], [76861153, 76861318], [76861896, 76862204]] [[76836056, 76836138], [76839913, 76839942], [76841061, 76841128], [76841890, 76841953], [76842103, 76842276], [76846887, 76846964], [76852366, 76852457], [76857261, 76857388], [76861153, 76861318], [76861896, 76862102]]
ENST00000511606 [[76835121, 76835491], [76841061, 76841128], [76841890, 76841953], [76842103, 76842180]] None
ENST00000513045 [[76835457, 76835491], [76836020, 76836138], [76841061, 76841128], [76841890, 76841953], [76842103, 76842276], [76846887, 76846966]] [[76836102, 76836138], [76841061, 76841128], [76841890, 76841953], [76842103, 76842276], [76846887, 76846966]]
ENST00000602782 [[76837590, 76837702], [76839913, 76839942], [76841061, 76841128], [76841890, 76841953], [76842103, 76842276], [76846887, 76846964], [76852366, 76852457], [76857261, 76857383]] [[76837656, 76837702], [76839913, 76839942], [76841061, 76841128], [76841890, 76841953], [76842103, 76842276], [76846887, 76846964], [76852366, 76852457], [76857261, 76857383]]
ENST00000507956 [[76838619, 76838926], [76841061, 76841128], [76841890, 76841953], [76842103, 76842276], [76846887, 76846964], [76852366, 76852457], [76857261, 76857388], [76861153, 76861318], [76861896, 76862126]] [[76838923, 76838926], [76841061, 76841128], [76841890, 76841953], [76842103, 76842276], [76846887, 76846964], [76852366, 76852457], [76857261, 76857388], [76861153, 76861318], [76861896, 76862102]]
ENST00000505594 [[76840494, 76841128], [76841890, 76841953], [76842103, 76842276], [76846887, 76846964], [76852366, 76852457], [76857261, 76857388], [76861153, 76861413]] [[76840968, 76841128], [76841890, 76841953], [76842103, 76842276], [76846887, 76846964], [76852366, 76852457], [76857261, 76857388], [76861153, 76861221]]
ENST00000507187 [[76856043, 76857388], [76861153, 76861318], [76861896, 76862136]] [[76857255, 76857388], [76861153, 76861318], [76861896, 76862102]]
ENST00000507940 [[76857316, 76857388], [76860895, 76861377]] None
ENST00000503636 [[76861122, 76861318], [76861896, 76862164]] None
NM_001042402 [[76831807, 76832506], [76841061, 76841128], [76841890, 76841953], [76842103, 76842276], [76846887, 76846964], [76852366, 76852457], [76857261, 76857388], [76861153, 76861318], [76861896, 76862166]] [[76832503, 76832506], [76841061, 76841128], [76841890, 76841953], [76842103, 76842276], [76846887, 76846964], [76852366, 76852457], [76857261, 76857388], [76861153, 76861318], [76861896, 76862102]]
NM_014435 [[76834808, 76835491], [76836020, 76836138], [76839913, 76839942], [76841061, 76841128], [76841890, 76841953], [76842103, 76842276], [76846887, 76846964], [76852366, 76852457], [76857261, 76857388], [76861153, 76861318], [76861896, 76862166]] [[76836056, 76836138], [76839913, 76839942], [76841061, 76841128], [76841890, 76841953], [76842103, 76842276], [76846887, 76846964], [76852366, 76852457], [76857261, 76857388], [76861153, 76861318], [76861896, 76862102]]
Promoter
Chrom Start End Description
chr4 76861392 76861418 CAGE_peak_3_at_NAAA_5end
chr4 76861424 76861449 CAGE_peak_2_at_NAAA_5end
chr4 76862117 76862186 CAGE_peak_1_at_NAAA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I075695 75695105 75696975 0.88 [{'connected_gene': 'G3BP2', 'score': 6.94}, {'connected_gene': 'CDKL2', 'score': 5.53}, {'connected_gene': 'CCDC158', 'score': 4.92}, {'connected_gene': 'USO1', 'score': 4.8}, {'connected_gene': 'NAAA', 'score': 4.41}, {'connected_gene': 'RCHY1', 'score': 1.61}, {'connected_gene': 'THAP6', 'score': 1.55}, {'connected_gene': 'NUP54', 'score': 1.5}, {'connected_gene': 'GC04M075663', 'score': 0.29}, {'connected_gene': 'ENSG00000201644', 'score': 0.29}]
chr4 GH04I075671 75671213 75675587 2.26 [{'connected_gene': 'G3BP2', 'score': 563.19}, {'connected_gene': 'USO1', 'score': 17.54}, {'connected_gene': 'CDKL2', 'score': 11.71}, {'connected_gene': 'NUP54', 'score': 10.01}, {'connected_gene': 'NAAA', 'score': 4.4}, {'connected_gene': 'GC04M075663', 'score': 0.39}, {'connected_gene': 'ENSG00000201644', 'score': 0.39}]
chr4 GH04I076036 76036801 76037000 0.31 [{'connected_gene': 'RPL36P8', 'score': 550.77}, {'connected_gene': 'ART3', 'score': 68.68}, {'connected_gene': 'NAAA', 'score': 23.55}, {'connected_gene': 'CXCL9', 'score': 11.95}, {'connected_gene': 'CXCL11', 'score': 0.77}, {'connected_gene': 'GC04M075923', 'score': 0.39}]
chr4 GH04I076042 76042351 76042517 0.49 [{'connected_gene': 'CXCL11', 'score': 574.24}, {'connected_gene': 'CXCL9', 'score': 72.9}, {'connected_gene': 'CXCL10', 'score': 57.96}, {'connected_gene': 'NAAA', 'score': 2.05}, {'connected_gene': 'ART3', 'score': 0.29}, {'connected_gene': 'GC04P076101', 'score': 0.22}]
chr4 GH04I075989 75989514 75991601 2.04 [{'connected_gene': 'SDAD1', 'score': 550.77}, {'connected_gene': 'NAAA', 'score': 24.51}, {'connected_gene': 'SCARB2', 'score': 10.06}, {'connected_gene': 'ART3', 'score': 6.28}, {'connected_gene': 'LOC101928809', 'score': 0.44}, {'connected_gene': 'GC04M075923', 'score': 0.28}]
chr4 GH04I075901 75901332 75902002 1.04 [{'connected_gene': 'PPEF2', 'score': 550.77}, {'connected_gene': 'NAAA', 'score': 30.92}, {'connected_gene': 'CXCL10', 'score': 3.55}, {'connected_gene': 'CXCL9', 'score': 3.17}, {'connected_gene': 'CXCL11', 'score': 2.78}, {'connected_gene': 'THAP6', 'score': 1.46}, {'connected_gene': 'RCHY1', 'score': 1.45}, {'connected_gene': 'LOC105377285', 'score': 0.34}]
chr4 GH04I076192 76192944 76202642 1.45 [{'connected_gene': 'NUP54', 'score': 37.35}, {'connected_gene': 'SCARB2', 'score': 22.78}, {'connected_gene': 'RCHY1', 'score': 11.17}, {'connected_gene': 'THAP6', 'score': 9.66}, {'connected_gene': 'ART3', 'score': 8.22}, {'connected_gene': 'NAAA', 'score': 4.51}, {'connected_gene': 'GC04P076210', 'score': 0.39}]
chr4 GH04I076185 76185358 76189826 0.64 [{'connected_gene': 'NUP54', 'score': 28.55}, {'connected_gene': 'SCARB2', 'score': 23.49}, {'connected_gene': 'FAM47E', 'score': 12.24}, {'connected_gene': 'STBD1', 'score': 11.44}, {'connected_gene': 'RNU6-1000P', 'score': 10.66}, {'connected_gene': 'NAAA', 'score': 6.47}, {'connected_gene': 'RPL7P17', 'score': 5.9}, {'connected_gene': 'GC04P076210', 'score': 0.34}]
chr4 GH04I076154 76154975 76157394 0.43 [{'connected_gene': 'NUP54', 'score': 27.7}, {'connected_gene': 'SCARB2', 'score': 20.78}, {'connected_gene': 'FAM47E', 'score': 10.39}, {'connected_gene': 'RNU6-1000P', 'score': 10.34}, {'connected_gene': 'NAAA', 'score': 7.43}, {'connected_gene': 'GC04P076146', 'score': 0.44}, {'connected_gene': 'GC04P076210', 'score': 0.23}]
chr4 GH04I076089 76089277 76091385 1.44 [{'connected_gene': 'NUP54', 'score': 38.7}, {'connected_gene': 'CXCL10', 'score': 12.48}, {'connected_gene': 'CXCL9', 'score': 12.23}, {'connected_gene': 'SDAD1', 'score': 11.07}, {'connected_gene': 'ART3', 'score': 10.99}, {'connected_gene': 'NAAA', 'score': 8.88}, {'connected_gene': 'CXCL11', 'score': 1.56}, {'connected_gene': 'GC04P076101', 'score': 0.39}]
chr4 GH04I075916 75916200 75916640 0.84 [{'connected_gene': 'CXCL9', 'score': 10.01}, {'connected_gene': 'ART3', 'score': 10.01}, {'connected_gene': 'PPEF2', 'score': 0.39}, {'connected_gene': 'PIR50646', 'score': 0.34}, {'connected_gene': 'NAAA', 'score': 0.34}, {'connected_gene': 'GC04M075942', 'score': 0.34}]
chr4 GH04I076029 76029377 76029603 0.39 [{'connected_gene': 'CXCL9', 'score': 46.9}, {'connected_gene': 'CXCL10', 'score': 36.97}, {'connected_gene': 'CXCL11', 'score': 26.01}, {'connected_gene': 'SDAD1', 'score': 11.33}, {'connected_gene': 'ART3', 'score': 5.96}, {'connected_gene': 'NAAA', 'score': 1.91}, {'connected_gene': 'GC04M075923', 'score': 0.77}, {'connected_gene': 'RPL36P8', 'score': 0.44}]
chr4 GH04I076027 76027868 76029000 1.05 [{'connected_gene': 'ART3', 'score': 61.73}, {'connected_gene': 'CXCL9', 'score': 27.37}, {'connected_gene': 'CXCL10', 'score': 19.98}, {'connected_gene': 'CXCL11', 'score': 18.72}, {'connected_gene': 'SDAD1', 'score': 11.33}, {'connected_gene': 'NAAA', 'score': 2.53}, {'connected_gene': 'GC04M075923', 'score': 0.77}, {'connected_gene': 'RPL36P8', 'score': 0.44}]
chr4 GH04I076059 76059390 76060560 0.86 [{'connected_gene': 'ART3', 'score': 75.17}, {'connected_gene': 'CXCL10', 'score': 32.82}, {'connected_gene': 'CXCL9', 'score': 29.59}, {'connected_gene': 'NAAA', 'score': 26.79}, {'connected_gene': 'CXCL11', 'score': 18.55}, {'connected_gene': 'SDAD1', 'score': 11.76}, {'connected_gene': 'LOC101928809', 'score': 11.44}, {'connected_gene': 'GC04P076101', 'score': 0.26}]
chr4 GH04I076011 76011040 76013527 1.38 [{'connected_gene': 'ART3', 'score': 609.96}, {'connected_gene': 'NAAA', 'score': 25.73}, {'connected_gene': 'NUP54', 'score': 11.7}, {'connected_gene': 'GC04M075923', 'score': 0.39}, {'connected_gene': 'CXCL10', 'score': 0.39}]
chr4 GH04I075845 75845762 75845923 0.33 [{'connected_gene': 'CXCL10', 'score': 27.54}, {'connected_gene': 'CXCL9', 'score': 27.3}, {'connected_gene': 'CXCL11', 'score': 19.21}, {'connected_gene': 'NAAA', 'score': 1.86}, {'connected_gene': 'GC04P075831', 'score': 0.37}, {'connected_gene': 'LOC105377285', 'score': 0.29}]
chr4 GH04I076420 76420802 76421599 0.38 [{'connected_gene': 'CCDC158', 'score': 550.77}, {'connected_gene': 'STBD1', 'score': 13.57}, {'connected_gene': 'NAAA', 'score': 5.1}, {'connected_gene': 'GC04P076410', 'score': 0.39}]
chr4 GH04I075939 75939435 75941580 1.92 [{'connected_gene': 'NAAA', 'score': 614.34}, {'connected_gene': 'GC04M075942', 'score': 550.77}, {'connected_gene': 'PIR50646', 'score': 550.77}, {'connected_gene': 'PPEF2', 'score': 12.19}, {'connected_gene': 'SCARB2', 'score': 8.36}, {'connected_gene': 'ART3', 'score': 7.28}, {'connected_gene': 'SDAD1', 'score': 0.23}, {'connected_gene': 'GC04M075923', 'score': 0.17}]
chr4 GH04I075984 75984533 75986288 0.31 [{'connected_gene': 'NAAA', 'score': 66.18}, {'connected_gene': 'ART3', 'score': 9.03}, {'connected_gene': 'LOC101928809', 'score': 0.77}, {'connected_gene': 'SDAD1', 'score': 0.44}, {'connected_gene': 'GC04M075923', 'score': 0.26}]
chr4 GH04I076055 76055188 76055337 0.74 [{'connected_gene': 'NAAA', 'score': 26.0}, {'connected_gene': 'CXCL10', 'score': 11.8}, {'connected_gene': 'CXCL9', 'score': 11.26}, {'connected_gene': 'SDAD1', 'score': 11.17}, {'connected_gene': 'ART3', 'score': 11.08}, {'connected_gene': 'CXCL11', 'score': 0.39}, {'connected_gene': 'GC04P076101', 'score': 0.25}]
chr4 GH04I075843 75843555 75845154 0.91 [{'connected_gene': 'NAAA', 'score': 5.53}, {'connected_gene': 'GC04P075831', 'score': 0.39}, {'connected_gene': 'LOC105377285', 'score': 0.29}]
chr4 GH04I076561 76561396 76564992 1.15 [{'connected_gene': 'RNU6-145P', 'score': 11.13}, {'connected_gene': 'ENSG00000233860', 'score': 10.1}, {'connected_gene': 'NAAA', 'score': 6.51}, {'connected_gene': 'CXCL9', 'score': 5.04}, {'connected_gene': 'MIR4450', 'score': 0.39}, {'connected_gene': 'GC04M076533', 'score': 0.29}, {'connected_gene': 'SHROOM3', 'score': 0.13}]
chr4 GH04I076205 76205669 76215919 2.5 [{'connected_gene': 'FAM47E', 'score': 569.73}, {'connected_gene': 'SCARB2', 'score': 556.87}, {'connected_gene': 'GC04P076210', 'score': 550.77}, {'connected_gene': 'NUP54', 'score': 39.17}, {'connected_gene': 'THAP6', 'score': 16.03}, {'connected_gene': 'SDAD1', 'score': 14.66}, {'connected_gene': 'ART3', 'score': 9.06}, {'connected_gene': 'NAAA', 'score': 7.1}, {'connected_gene': 'G3BP2', 'score': 5.88}, {'connected_gene': 'STBD1', 'score': 4.69}, {'connected_gene': 'CXCL10', 'score': 1.4}, {'connected_gene': 'CXCL11', 'score': 1.4}]
chr4 GH04I076028 76027395 76027509 0.26 [{'connected_gene': 'GC04M075923', 'score': 550.77}, {'connected_gene': 'ART3', 'score': 61.73}, {'connected_gene': 'CXCL10', 'score': 23.77}, {'connected_gene': 'CXCL9', 'score': 20.43}, {'connected_gene': 'CXCL11', 'score': 19.68}, {'connected_gene': 'NUP54', 'score': 9.84}, {'connected_gene': 'NAAA', 'score': 1.82}, {'connected_gene': 'RPL36P8', 'score': 0.44}]
chr4 GH04I075831 75831488 75832298 0.49 [{'connected_gene': 'GC04P075831', 'score': 550.77}, {'connected_gene': 'NAAA', 'score': 8.46}, {'connected_gene': 'LOC105377284', 'score': 0.44}, {'connected_gene': 'GC04P075815', 'score': 0.37}, {'connected_gene': 'LOC105377285', 'score': 0.25}]

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