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
ENST00000396251 [[39224700, 39227152], [39227579, 39231016], [39233936, 39234087]] [[39227143, 39227152], [39227579, 39230936]]
ENST00000340369 [[39224705, 39231016], [39233936, 39234085]] [[39225404, 39230936]]
ENST00000421646 [[39224706, 39227152], [39233936, 39234086]] [[39225404, 39226985]]
NM_001198621 [[39224705, 39227152], [39227579, 39231016], [39233936, 39234087]] [[39227143, 39227152], [39227579, 39230936]]
NM_194293 [[39224706, 39231016], [39233936, 39234077]] [[39225404, 39230936]]
Promoter
Chrom Start End Description
chr3 39230861 39230875 CAGE_peak_3_at_XIRP1_5end
chr3 39230927 39230934 CAGE_peak_25_at_XIRP1_5end
chr3 39233987 39233993 CAGE_peak_14_at_XIRP1_5end
chr3 39234074 39234095 CAGE_peak_1_at_XIRP1_5end
chr3 39234144 39234151 CAGE_peak_2_at_XIRP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I039210 39210721 39212053 0.58 [{'connected_gene': 'DSTNP4', 'score': 550.77}, {'connected_gene': 'XIRP1', 'score': 0.37}]
chr3 GH03I039208 39208090 39208859 0.86 [{'connected_gene': 'DSTNP4', 'score': 0.77}, {'connected_gene': 'XIRP1', 'score': 0.37}]
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 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 GH03I039168 39168001 39168200 0.4 [{'connected_gene': 'GORASP1', 'score': 15.38}, {'connected_gene': 'XIRP1', 'score': 11.44}, {'connected_gene': 'TTC21A', 'score': 10.91}, {'connected_gene': 'LOC105377035', 'score': 0.44}, {'connected_gene': 'ENSG00000214305', 'score': 0.44}, {'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 GH03I039382 39382454 39385110 2.26 [{'connected_gene': 'SLC25A38', 'score': 550.77}, {'connected_gene': 'LOC105377644', 'score': 550.77}, {'connected_gene': 'RPSA', 'score': 41.98}, {'connected_gene': 'GORASP1', 'score': 30.94}, {'connected_gene': 'SNORA62', 'score': 11.07}, {'connected_gene': 'XIRP1', 'score': 4.77}, {'connected_gene': 'GC03M039393', 'score': 0.34}]
chr3 GH03I039209 39209504 39210454 0.51 [{'connected_gene': 'RPSA', 'score': 4.79}, {'connected_gene': 'DSTNP4', 'score': 0.77}, {'connected_gene': 'XIRP1', 'score': 0.37}]
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 GH03I039289 39289639 39290925 0.52 [{'connected_gene': 'RPSA', 'score': 12.77}, {'connected_gene': 'XIRP1', 'score': 12.55}, {'connected_gene': 'TTC21A', 'score': 11.28}, {'connected_gene': 'GORASP1', 'score': 11.28}, {'connected_gene': 'ADAD1P1', 'score': 0.77}, {'connected_gene': 'CCR8', 'score': 0.28}]
chr3 GH03I039294 39294293 39295250 0.74 [{'connected_gene': 'RPSA', 'score': 13.18}, {'connected_gene': 'CCR8', 'score': 11.85}, {'connected_gene': 'HNRNPA1P21', 'score': 11.82}, {'connected_gene': 'XIRP1', 'score': 11.37}, {'connected_gene': 'ADAD1P1', 'score': 0.44}]
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 GH03I039196 39196001 39198167 0.52 [{'connected_gene': 'TTC21A', 'score': 7.61}, {'connected_gene': 'XIRP1', 'score': 0.77}, {'connected_gene': 'DSTNP4', 'score': 0.37}]
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 GH03I039189 39189749 39194312 1.73 [{'connected_gene': 'XIRP1', 'score': 550.77}, {'connected_gene': 'RPSA', 'score': 4.91}, {'connected_gene': 'PIR56273', 'score': 0.39}]
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 GH03I039291 39291970 39292099 0.74 [{'connected_gene': 'XIRP1', 'score': 12.55}, {'connected_gene': 'CCR8', 'score': 11.3}, {'connected_gene': 'HNRNPA1P21', 'score': 11.28}, {'connected_gene': 'TTC21A', 'score': 11.28}, {'connected_gene': 'GORASP1', 'score': 11.28}, {'connected_gene': 'ADAD1P1', 'score': 0.44}]
chr3 GH03I039184 39184730 39184879 0.63 [{'connected_gene': 'XIRP1', 'score': 0.44}, {'connected_gene': 'PIR56273', 'score': 0.44}]
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 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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