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
ENST00000542107 [[39304985, 39308009], [39321739, 39321930]] [[39306932, 39308000]]
ENST00000541347 [[39304985, 39308009], [39322533, 39322764]] [[39306932, 39308000]]
ENST00000358309 [[39304985, 39308009], [39323099, 39323226]] [[39306932, 39308009], [39323099, 39323186]]
ENST00000435290 [[39307501, 39308009], [39321739, 39321930]] [[39307501, 39308000]]
ENST00000412814 [[39307681, 39308009], [39322533, 39322764]] [[39307681, 39308000]]
ENST00000399220 [[39304984, 39308009], [39321444, 39321525]] [[39306932, 39308000]]
NM_001171172 [[39304984, 39308009], [39321739, 39321930]] [[39306932, 39308000]]
NM_001171171 [[39304984, 39308009], [39322533, 39322764]] [[39306932, 39308000]]
NM_001171174 [[39304984, 39308009], [39323099, 39323226]] [[39306932, 39308009], [39323099, 39323186]]
NM_001337 [[39304984, 39308009], [39321444, 39321527]] [[39306932, 39308000]]
Promoter
Chrom Start End Description
chr3 39321512 39321533 CAGE_peak_1_at_CX3CR1_5end
chr3 39321707 39321711 CAGE_peak_6_at_CX3CR1_5end
chr3 39322728 39322765 CAGE_peak_4_at_CX3CR1_5end
chr3 39323155 39323219 CAGE_peak_2_at_CX3CR1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I039266 39266578 39270003 1.36 [{'connected_gene': 'GORASP1', 'score': 16.48}, {'connected_gene': 'CSRNP1', 'score': 15.3}, {'connected_gene': 'XIRP1', 'score': 11.68}, {'connected_gene': 'CCR8', 'score': 10.81}, {'connected_gene': 'HNRNPA1P21', 'score': 10.8}, {'connected_gene': 'TTC21A', 'score': 10.7}, {'connected_gene': 'RPSA', 'score': 8.73}, {'connected_gene': 'WDR48', 'score': 2.46}, {'connected_gene': 'SLC25A38', 'score': 1.96}, {'connected_gene': 'CX3CR1', 'score': 1.54}, {'connected_gene': 'LOC102724104', 'score': 0.28}]
chr3 GH03I039174 39174735 39175444 0.54 [{'connected_gene': 'GORASP1', 'score': 15.97}, {'connected_gene': 'CSRNP1', 'score': 12.52}, {'connected_gene': 'CX3CR1', 'score': 11.72}, {'connected_gene': 'TTC21A', 'score': 11.54}, {'connected_gene': 'LOC105377035', 'score': 0.77}, {'connected_gene': 'ENSG00000214305', 'score': 0.39}]
chr3 GH03I039157 39157985 39158740 0.4 [{'connected_gene': 'GORASP1', 'score': 16.13}, {'connected_gene': 'TTC21A', 'score': 11.67}, {'connected_gene': 'XIRP1', 'score': 11.5}, {'connected_gene': 'CX3CR1', 'score': 10.59}, {'connected_gene': 'CSRNP1', 'score': 0.77}, {'connected_gene': 'ENSG00000214305', 'score': 0.77}, {'connected_gene': 'LOC101928263', 'score': 0.44}, {'connected_gene': 'ENSG00000284669', 'score': 0.39}]
chr3 GH03I039165 39165464 39167979 1.28 [{'connected_gene': 'GORASP1', 'score': 16.49}, {'connected_gene': 'XIRP1', 'score': 11.42}, {'connected_gene': 'TTC21A', 'score': 11.41}, {'connected_gene': 'CX3CR1', 'score': 10.8}, {'connected_gene': 'ENSG00000214305', 'score': 0.44}, {'connected_gene': 'LOC105377035', 'score': 0.39}, {'connected_gene': 'LOC101928263', 'score': 0.37}, {'connected_gene': 'ENSG00000284669', 'score': 0.37}]
chr3 GH03I039260 39260078 39264985 1.28 [{'connected_gene': 'CSRNP1', 'score': 11.64}, {'connected_gene': 'XIRP1', 'score': 11.6}, {'connected_gene': 'TTC21A', 'score': 10.36}, {'connected_gene': 'GORASP1', 'score': 10.36}, {'connected_gene': 'RNU6-1227P', 'score': 9.17}, {'connected_gene': 'RPSA', 'score': 7.9}, {'connected_gene': 'CX3CR1', 'score': 5.39}, {'connected_gene': 'EXOG', 'score': 4.2}, {'connected_gene': 'LOC102724104', 'score': 0.29}]
chr3 GH03I039145 39145744 39156449 2.84 [{'connected_gene': 'CSRNP1', 'score': 562.05}, {'connected_gene': 'ENSG00000283849', 'score': 550.77}, {'connected_gene': 'LOC101928263', 'score': 550.77}, {'connected_gene': 'GORASP1', 'score': 52.31}, {'connected_gene': 'TTC21A', 'score': 23.41}, {'connected_gene': 'SNORA62', 'score': 22.39}, {'connected_gene': 'CX3CR1', 'score': 22.21}, {'connected_gene': 'XIRP1', 'score': 11.47}, {'connected_gene': 'MOBP', 'score': 11.35}, {'connected_gene': 'ACVR2B-AS1', 'score': 9.87}, {'connected_gene': 'OXSR1', 'score': 9.69}, {'connected_gene': 'EXOG', 'score': 4.75}, {'connected_gene': 'WDR48', 'score': 1.88}, {'connected_gene': 'ENSG00000284669', 'score': 0.77}]
chr3 GH03I039354 39354918 39358180 0.2 [{'connected_gene': 'EEF1A1P24', 'score': 550.77}, {'connected_gene': 'HNRNPA1P21', 'score': 17.13}, {'connected_gene': 'CX3CR1', 'score': 16.14}, {'connected_gene': 'CCR8', 'score': 12.21}, {'connected_gene': 'RPSA', 'score': 8.24}, {'connected_gene': 'ENSG00000238267', 'score': 0.37}, {'connected_gene': 'LOC105377644', 'score': 0.31}]
chr3 GH03I039358 39358368 39358694 0.71 [{'connected_gene': 'EEF1A1P24', 'score': 550.77}, {'connected_gene': 'CCR8', 'score': 14.23}, {'connected_gene': 'HNRNPA1P21', 'score': 12.24}, {'connected_gene': 'CX3CR1', 'score': 10.12}, {'connected_gene': 'SLC25A38', 'score': 1.64}, {'connected_gene': 'ENSG00000238267', 'score': 0.37}, {'connected_gene': 'LOC105377644', 'score': 0.34}]
chr3 GH03I039485 39485639 39485808 0.81 [{'connected_gene': 'MOBP', 'score': 6.88}, {'connected_gene': 'TTC21A', 'score': 3.16}, {'connected_gene': 'CX3CR1', 'score': 2.03}, {'connected_gene': 'NFU1P1', 'score': 0.1}]
chr3 GH03I039458 39458697 39458967 0.75 [{'connected_gene': 'MOBP', 'score': 18.2}, {'connected_gene': 'CX3CR1', 'score': 15.22}, {'connected_gene': 'RPSA', 'score': 11.02}, {'connected_gene': 'SNORA6', 'score': 11.02}, {'connected_gene': 'TTC21A', 'score': 4.67}, {'connected_gene': 'LOC105377038', 'score': 0.77}]
chr3 GH03I039460 39460840 39460932 0.45 [{'connected_gene': 'MOBP', 'score': 19.72}, {'connected_gene': 'CX3CR1', 'score': 1.45}, {'connected_gene': 'MYRIP', 'score': 1.44}, {'connected_gene': 'LOC105377038', 'score': 0.77}]
chr3 GH03I039470 39470965 39471149 0.48 [{'connected_gene': 'MOBP', 'score': 17.4}, {'connected_gene': 'CX3CR1', 'score': 12.17}, {'connected_gene': 'MYRIP', 'score': 2.17}, {'connected_gene': 'NFU1P1', 'score': 0.09}]
chr3 GH03I039342 39342796 39345777 0.46 [{'connected_gene': 'RPSA', 'score': 19.99}, {'connected_gene': 'SNORA6', 'score': 10.52}, {'connected_gene': 'CX3CR1', 'score': 10.03}, {'connected_gene': 'ENSG00000238267', 'score': 0.44}, {'connected_gene': 'EEF1A1P24', 'score': 0.39}, {'connected_gene': 'LOC105377644', 'score': 0.28}]
chr3 GH03I039361 39361201 39362812 1.36 [{'connected_gene': 'RPSA', 'score': 23.09}, {'connected_gene': 'HNRNPA1P21', 'score': 19.54}, {'connected_gene': 'CCR8', 'score': 15.48}, {'connected_gene': 'SNORA6', 'score': 10.65}, {'connected_gene': 'CX3CR1', 'score': 10.41}, {'connected_gene': 'XIRP1', 'score': 4.76}, {'connected_gene': 'SLC25A38', 'score': 3.42}, {'connected_gene': 'WDR48', 'score': 1.34}, {'connected_gene': 'EEF1A1P24', 'score': 0.77}, {'connected_gene': 'GC03P039372', 'score': 0.44}, {'connected_gene': 'LOC105377644', 'score': 0.34}]
chr3 GH03I039288 39288201 39288801 1.34 [{'connected_gene': 'RPSA', 'score': 12.68}, {'connected_gene': 'XIRP1', 'score': 12.55}, {'connected_gene': 'TTC21A', 'score': 11.28}, {'connected_gene': 'GORASP1', 'score': 11.28}, {'connected_gene': 'CX3CR1', 'score': 5.16}, {'connected_gene': 'ADAD1P1', 'score': 0.77}, {'connected_gene': 'CCR8', 'score': 0.26}]
chr3 GH03I039446 39446486 39447641 0.56 [{'connected_gene': 'RPSA', 'score': 23.55}, {'connected_gene': 'CX3CR1', 'score': 13.92}, {'connected_gene': 'MOBP', 'score': 12.88}, {'connected_gene': 'SNORA6', 'score': 11.06}, {'connected_gene': 'LOC105377038', 'score': 0.44}, {'connected_gene': 'GC03P039422', 'score': 0.28}]
chr3 GH03I039317 39317123 39318758 0.93 [{'connected_gene': 'RPSA', 'score': 13.0}, {'connected_gene': 'CX3CR1', 'score': 10.9}, {'connected_gene': 'HNRNPA1P21', 'score': 5.28}, {'connected_gene': 'TTC21A', 'score': 4.96}, {'connected_gene': 'CCR8', 'score': 0.39}, {'connected_gene': 'ADAD1P1', 'score': 0.29}]
chr3 GH03I039353 39353909 39354883 0.43 [{'connected_gene': 'RPSA', 'score': 12.78}, {'connected_gene': 'CCR8', 'score': 12.24}, {'connected_gene': 'CX3CR1', 'score': 10.13}, {'connected_gene': 'EEF1A1P24', 'score': 0.77}, {'connected_gene': 'ENSG00000238267', 'score': 0.37}, {'connected_gene': 'LOC105377644', 'score': 0.31}]
chr3 GH03I039351 39351091 39352837 0.2 [{'connected_gene': 'RPSA', 'score': 12.78}, {'connected_gene': 'CCR8', 'score': 12.24}, {'connected_gene': 'CX3CR1', 'score': 10.13}, {'connected_gene': 'EEF1A1P24', 'score': 0.44}, {'connected_gene': 'ENSG00000238267', 'score': 0.39}, {'connected_gene': 'LOC105377644', 'score': 0.29}]
chr3 GH03I039106 39106225 39108964 2 [{'connected_gene': 'TTC21A', 'score': 568.64}, {'connected_gene': 'GORASP1', 'score': 563.62}, {'connected_gene': 'CX3CR1', 'score': 21.66}, {'connected_gene': 'CSRNP1', 'score': 11.68}, {'connected_gene': 'MOBP', 'score': 11.34}, {'connected_gene': 'SCN11A', 'score': 4.29}, {'connected_gene': 'PIR55888', 'score': 0.44}, {'connected_gene': 'GC03M039097', 'score': 0.44}]
chr3 GH03I039131 39131930 39134087 0.77 [{'connected_gene': 'TTC21A', 'score': 24.14}, {'connected_gene': 'GORASP1', 'score': 11.9}, {'connected_gene': 'CX3CR1', 'score': 11.17}, {'connected_gene': 'MIR6822', 'score': 0.44}]
chr3 GH03I039134 39134162 39136130 0.38 [{'connected_gene': 'TTC21A', 'score': 21.77}, {'connected_gene': 'GORASP1', 'score': 15.94}, {'connected_gene': 'CX3CR1', 'score': 9.74}, {'connected_gene': 'MIR6822', 'score': 0.77}]
chr3 GH03I039124 39124850 39128079 1.26 [{'connected_gene': 'TTC21A', 'score': 13.24}, {'connected_gene': 'CSRNP1', 'score': 12.97}, {'connected_gene': 'GORASP1', 'score': 12.7}, {'connected_gene': 'OXSR1', 'score': 12.63}, {'connected_gene': 'SNORA62', 'score': 11.32}, {'connected_gene': 'XIRP1', 'score': 10.18}, {'connected_gene': 'CX3CR1', 'score': 9.93}, {'connected_gene': 'MIR6822', 'score': 0.39}]
chr3 GH03I039129 39129525 39131198 0.38 [{'connected_gene': 'TTC21A', 'score': 24.97}, {'connected_gene': 'CSRNP1', 'score': 13.0}, {'connected_gene': 'GORASP1', 'score': 12.09}, {'connected_gene': 'CX3CR1', 'score': 11.17}, {'connected_gene': 'XIRP1', 'score': 10.99}, {'connected_gene': 'MIR6822', 'score': 0.44}]
chr3 GH03I039276 39276401 39279200 0.86 [{'connected_gene': 'XIRP1', 'score': 11.81}, {'connected_gene': 'GORASP1', 'score': 10.76}, {'connected_gene': 'TTC21A', 'score': 10.75}, {'connected_gene': 'CCR8', 'score': 10.16}, {'connected_gene': 'HNRNPA1P21', 'score': 10.15}, {'connected_gene': 'RNU6-1227P', 'score': 8.9}, {'connected_gene': 'RPSA', 'score': 6.49}, {'connected_gene': 'CX3CR1', 'score': 0.77}, {'connected_gene': 'LOC102724104', 'score': 0.25}]
chr3 GH03I039274 39274476 39274824 0.53 [{'connected_gene': 'XIRP1', 'score': 11.81}, {'connected_gene': 'TTC21A', 'score': 10.76}, {'connected_gene': 'GORASP1', 'score': 10.76}, {'connected_gene': 'CCR8', 'score': 10.15}, {'connected_gene': 'HNRNPA1P21', 'score': 10.14}, {'connected_gene': 'RNU6-1227P', 'score': 8.73}, {'connected_gene': 'MOBP', 'score': 7.22}, {'connected_gene': 'SCN10A', 'score': 3.91}, {'connected_gene': 'CX3CR1', 'score': 0.44}, {'connected_gene': 'LOC102724104', 'score': 0.26}]
chr3 GH03I039271 39271026 39274400 1.06 [{'connected_gene': 'XIRP1', 'score': 11.81}, {'connected_gene': 'TTC21A', 'score': 10.76}, {'connected_gene': 'GORASP1', 'score': 10.75}, {'connected_gene': 'CCR8', 'score': 10.15}, {'connected_gene': 'HNRNPA1P21', 'score': 10.14}, {'connected_gene': 'RNU6-1227P', 'score': 8.73}, {'connected_gene': 'RPSA', 'score': 6.47}, {'connected_gene': 'CSRNP1', 'score': 5.41}, {'connected_gene': 'SCN10A', 'score': 1.51}, {'connected_gene': 'WDR48', 'score': 1.37}, {'connected_gene': 'CX3CR1', 'score': 0.44}, {'connected_gene': 'LOC102724104', 'score': 0.26}]
chr3 GH03I039277 39276001 39276200 0.74 [{'connected_gene': 'XIRP1', 'score': 11.81}, {'connected_gene': 'TTC21A', 'score': 10.76}, {'connected_gene': 'GORASP1', 'score': 10.76}, {'connected_gene': 'CCR8', 'score': 10.16}, {'connected_gene': 'HNRNPA1P21', 'score': 10.15}, {'connected_gene': 'RNU6-1227P', 'score': 8.73}, {'connected_gene': 'CX3CR1', 'score': 0.44}, {'connected_gene': 'LOC102724104', 'score': 0.26}]
chr3 GH03I039224 39224705 39225725 0.2 [{'connected_gene': 'XIRP1', 'score': 12.1}, {'connected_gene': 'CX3CR1', 'score': 11.86}, {'connected_gene': 'CSRNP1', 'score': 10.82}, {'connected_gene': 'CCR8', 'score': 10.5}, {'connected_gene': 'HNRNPA1P21', 'score': 10.49}, {'connected_gene': 'RPSA', 'score': 3.98}, {'connected_gene': 'LOC102724104', 'score': 0.44}, {'connected_gene': 'DSTNP4', 'score': 0.39}]
chr3 GH03I039222 39222550 39222699 0.4 [{'connected_gene': 'XIRP1', 'score': 12.1}, {'connected_gene': 'CX3CR1', 'score': 11.86}, {'connected_gene': 'CSRNP1', 'score': 10.83}, {'connected_gene': 'CCR8', 'score': 10.49}, {'connected_gene': 'HNRNPA1P21', 'score': 10.48}, {'connected_gene': 'LOC102724104', 'score': 0.44}, {'connected_gene': 'DSTNP4', 'score': 0.44}]
chr3 GH03I039258 39258514 39259589 0.2 [{'connected_gene': 'CX3CR1', 'score': 12.65}, {'connected_gene': 'CSRNP1', 'score': 11.64}, {'connected_gene': 'RPSA', 'score': 5.02}, {'connected_gene': 'EXOG', 'score': 4.2}, {'connected_gene': 'LOC102724104', 'score': 0.31}]
chr3 GH03I039447 39447801 39448201 1.09 [{'connected_gene': 'CX3CR1', 'score': 13.82}, {'connected_gene': 'SNORA6', 'score': 10.91}, {'connected_gene': 'RPSA', 'score': 10.89}, {'connected_gene': 'LOC105377038', 'score': 0.44}, {'connected_gene': 'GC03P039422', 'score': 0.28}]
chr3 GH03I039433 39433401 39434000 0.31 [{'connected_gene': 'CX3CR1', 'score': 14.6}, {'connected_gene': 'MOBP', 'score': 11.23}, {'connected_gene': 'RPSA', 'score': 10.01}, {'connected_gene': 'GC03P039422', 'score': 0.34}, {'connected_gene': 'LOC105377038', 'score': 0.34}]
chr3 GH03I039279 39279801 39282000 0.9 [{'connected_gene': 'CX3CR1', 'score': 550.77}, {'connected_gene': 'RPSA', 'score': 9.05}, {'connected_gene': 'LOC102724104', 'score': 0.25}]
chr3 GH03I039216 39216001 39217000 1.15 [{'connected_gene': 'CX3CR1', 'score': 12.08}, {'connected_gene': 'XIRP1', 'score': 12.01}, {'connected_gene': 'GORASP1', 'score': 6.5}, {'connected_gene': 'DSTNP4', 'score': 0.77}, {'connected_gene': 'LOC102724104', 'score': 0.37}]
chr3 GH03I039220 39220841 39221049 0.69 [{'connected_gene': 'CX3CR1', 'score': 16.22}, {'connected_gene': 'XIRP1', 'score': 12.11}, {'connected_gene': 'CSRNP1', 'score': 10.83}, {'connected_gene': 'CCR8', 'score': 10.49}, {'connected_gene': 'HNRNPA1P21', 'score': 10.48}, {'connected_gene': 'MOBP', 'score': 3.74}, {'connected_gene': 'DSTNP4', 'score': 0.44}, {'connected_gene': 'LOC102724104', 'score': 0.39}]
chr3 GH03I039240 39240536 39244577 0.38 [{'connected_gene': 'CX3CR1', 'score': 12.18}, {'connected_gene': 'XIRP1', 'score': 11.92}, {'connected_gene': 'CSRNP1', 'score': 11.03}, {'connected_gene': 'CCR8', 'score': 10.58}, {'connected_gene': 'HNRNPA1P21', 'score': 10.57}, {'connected_gene': 'RPSA', 'score': 7.24}, {'connected_gene': 'GORASP1', 'score': 5.41}, {'connected_gene': 'LOC102724104', 'score': 0.39}]
chr3 GH03I039255 39255111 39257506 1.14 [{'connected_gene': 'CX3CR1', 'score': 12.62}, {'connected_gene': 'XIRP1', 'score': 12.23}, {'connected_gene': 'CSRNP1', 'score': 11.64}, {'connected_gene': 'LOC102724104', 'score': 0.34}]
chr3 GH03I039248 39248883 39251000 0.78 [{'connected_gene': 'CX3CR1', 'score': 12.27}, {'connected_gene': 'XIRP1', 'score': 11.76}, {'connected_gene': 'LOC102724104', 'score': 0.37}]
chr3 GH03I039350 39350850 39350999 0.4 [{'connected_gene': 'CCR8', 'score': 12.24}, {'connected_gene': 'CX3CR1', 'score': 10.14}, {'connected_gene': 'EEF1A1P24', 'score': 0.44}, {'connected_gene': 'ENSG00000238267', 'score': 0.39}, {'connected_gene': 'LOC105377644', 'score': 0.29}]
chr3 GH03I039065 39065201 39065439 0.72 [{'connected_gene': 'RNU6-1227P', 'score': 11.14}, {'connected_gene': 'CX3CR1', 'score': 9.82}, {'connected_gene': 'WDR48', 'score': 0.39}, {'connected_gene': 'PIR55888', 'score': 0.29}, {'connected_gene': 'GC03M039097', 'score': 0.29}]
chr3 GH03I039455 39455007 39458389 0.43 [{'connected_gene': 'LOC105377038', 'score': 550.77}, {'connected_gene': 'RPSA', 'score': 19.14}, {'connected_gene': 'CX3CR1', 'score': 14.6}, {'connected_gene': 'SNORA6', 'score': 11.03}, {'connected_gene': 'GC03P039422', 'score': 0.25}]
chr3 GH03I039233 39233216 39235142 0.51 [{'connected_gene': 'LOC102724104', 'score': 550.77}, {'connected_gene': 'CX3CR1', 'score': 0.25}]
chr3 GH03I039137 39137398 39140012 0.49 [{'connected_gene': 'MIR6822', 'score': 550.77}, {'connected_gene': 'TTC21A', 'score': 22.24}, {'connected_gene': 'GORASP1', 'score': 11.39}, {'connected_gene': 'CX3CR1', 'score': 9.73}, {'connected_gene': 'ENSG00000284669', 'score': 0.44}]
chr3 GH03I039284 39284401 39285000 1.06 [{'connected_gene': 'ADAD1P1', 'score': 550.77}, {'connected_gene': 'GORASP1', 'score': 29.4}, {'connected_gene': 'RPSA', 'score': 12.78}, {'connected_gene': 'XIRP1', 'score': 12.56}, {'connected_gene': 'TTC21A', 'score': 11.29}, {'connected_gene': 'SNORA62', 'score': 10.89}, {'connected_gene': 'CX3CR1', 'score': 5.42}]
chr3 GH03I039175 39175721 39184371 1.43 [{'connected_gene': 'PIR56273', 'score': 550.77}, {'connected_gene': 'GORASP1', 'score': 16.23}, {'connected_gene': 'CSRNP1', 'score': 12.49}, {'connected_gene': 'CX3CR1', 'score': 11.72}, {'connected_gene': 'TTC21A', 'score': 11.53}, {'connected_gene': 'RPSA', 'score': 8.04}, {'connected_gene': 'LOC105377035', 'score': 0.77}, {'connected_gene': 'XIRP1', 'score': 0.39}]

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