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
ENST00000573771 [[3179777, 3180057], [3187166, 3187435]] [[3187281, 3187435]]
ENST00000574902 [[3184923, 3185110], [3185318, 3185388], [3187166, 3187680], [3188418, 3188542], [3188745, 3188819], [3188975, 3189099], [3190689, 3192804]] [[3187281, 3187680], [3188418, 3188542], [3188745, 3188819], [3188975, 3189099], [3190689, 3191348]]
ENST00000396878 [[3185028, 3185388], [3187166, 3187680], [3188418, 3188542], [3188745, 3188819], [3188975, 3189099], [3190689, 3192806]] [[3187281, 3187680], [3188418, 3188542], [3188745, 3188819], [3188975, 3189099], [3190689, 3191348]]
ENST00000576416 [[3185133, 3185446], [3187166, 3187680], [3188418, 3188542], [3188745, 3188819], [3188975, 3189099], [3190689, 3191780]] [[3187281, 3187680], [3188418, 3188542], [3188745, 3188819], [3188975, 3189099], [3190689, 3191348]]
ENST00000574928 [[3185138, 3185388], [3187166, 3192805]] None
ENST00000576863 [[3185159, 3185388], [3187166, 3187680], [3188354, 3188542], [3188745, 3188819], [3188975, 3189099], [3190689, 3192805]] [[3187281, 3187680], [3188354, 3188393]]
ENST00000572647 [[3187404, 3187680], [3188418, 3188542], [3188975, 3189099], [3190689, 3191533]] [[3187404, 3187680], [3188418, 3188542], [3188975, 3189099], [3190689, 3190714]]
ENST00000416391 [[3187459, 3187680], [3188418, 3188542], [3188975, 3189099], [3190689, 3191533]] [[3188419, 3188542], [3188975, 3189099], [3190689, 3191348]]
ENST00000574575 [[3187650, 3187680], [3188418, 3188542], [3190689, 3191356]] [[3187650, 3187680], [3188418, 3188542], [3190689, 3191348]]
NM_004220 [[3185056, 3185388], [3187166, 3187680], [3188418, 3188542], [3188745, 3188819], [3188975, 3189099], [3190689, 3192805]] [[3187281, 3187680], [3188418, 3188542], [3188745, 3188819], [3188975, 3189099], [3190689, 3191348]]
NR_104432 [[3185056, 3185388], [3187166, 3187680], [3188354, 3188542], [3188745, 3188819], [3188975, 3189099], [3190689, 3192805]] None
NM_001134655 [[3185133, 3185446], [3187166, 3187680], [3188418, 3188542], [3188745, 3188819], [3188975, 3189099], [3190689, 3192805]] [[3187281, 3187680], [3188418, 3188542], [3188745, 3188819], [3188975, 3189099], [3190689, 3191348]]
Promoter
Chrom Start End Description
chr16 3185024 3185045 CAGE_peak_2_at_ZNF213_5end
chr16 3185051 3185068 CAGE_peak_3_at_ZNF213_5end
chr16 3185079 3185081 CAGE_peak_7_at_ZNF213_5end
chr16 3185125 3185173 CAGE_peak_1_at_ZNF213_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I003097 3097001 3103199 2.06 [{'connected_gene': 'ZSCAN10', 'score': 554.99}, {'connected_gene': 'ZNF205', 'score': 37.26}, {'connected_gene': 'ZNF213-AS1', 'score': 17.88}, {'connected_gene': 'CLDN6', 'score': 11.14}, {'connected_gene': 'TNFRSF12A', 'score': 10.85}, {'connected_gene': 'ZNF205-AS1', 'score': 8.4}, {'connected_gene': 'ZNF213', 'score': 4.63}, {'connected_gene': 'ZNF263', 'score': 1.71}, {'connected_gene': 'OR1F1', 'score': 1.62}, {'connected_gene': 'ZNF597', 'score': 1.46}, {'connected_gene': 'ENSG00000263011', 'score': 0.44}]
chr16 GH16I003095 3095520 3096770 1.1 [{'connected_gene': 'THOC6', 'score': 23.21}, {'connected_gene': 'ZNF213-AS1', 'score': 16.13}, {'connected_gene': 'SRRM2', 'score': 13.68}, {'connected_gene': 'CREBBP', 'score': 12.87}, {'connected_gene': 'RNU1-125P', 'score': 12.79}, {'connected_gene': 'IL32', 'score': 12.77}, {'connected_gene': 'MMP25', 'score': 11.96}, {'connected_gene': 'BICDL2', 'score': 11.95}, {'connected_gene': 'LOC100128770', 'score': 11.94}, {'connected_gene': 'HCFC1R1', 'score': 11.92}, {'connected_gene': 'CLDN6', 'score': 11.91}, {'connected_gene': 'E4F1', 'score': 11.6}, {'connected_gene': 'ZNF263', 'score': 11.54}, {'connected_gene': 'TNFRSF12A', 'score': 11.01}, {'connected_gene': 'ENSG00000261938', 'score': 10.58}, {'connected_gene': 'SNORD60', 'score': 10.21}, {'connected_gene': 'ZNF597', 'score': 10.2}, {'connected_gene': 'ERVK13-1', 'score': 10.19}, {'connected_gene': 'LOC105371055', 'score': 10.14}, {'connected_gene': 'ZNF213', 'score': 5.11}, {'connected_gene': 'ZSCAN10', 'score': 0.77}, {'connected_gene': 'LOC105371058', 'score': 0.44}]
chr16 GH16I003127 3127515 3128200 0.38 [{'connected_gene': 'ZNF213', 'score': 550.77}, {'connected_gene': 'GC16M003129', 'score': 550.77}, {'connected_gene': 'PIR58259', 'score': 550.77}, {'connected_gene': 'ERVK13-1', 'score': 4.49}, {'connected_gene': 'ZNF213-AS1', 'score': 0.44}, {'connected_gene': 'ZNF205-AS1', 'score': 0.39}]
chr16 GH16I003142 3142399 3145527 0.92 [{'connected_gene': 'CASP16P', 'score': 550.77}, {'connected_gene': 'ZNF205', 'score': 31.24}, {'connected_gene': 'ZNF213-AS1', 'score': 20.12}, {'connected_gene': 'MMP25', 'score': 7.33}, {'connected_gene': 'ZNF213', 'score': 0.39}]
chr16 GH16I003133 3133600 3136372 2.21 [{'connected_gene': 'ZNF213-AS1', 'score': 562.8}, {'connected_gene': 'ZNF213', 'score': 555.19}, {'connected_gene': 'ZNF205', 'score': 9.97}, {'connected_gene': 'ERVK13-1', 'score': 4.49}, {'connected_gene': 'CASP16P', 'score': 0.44}]
chr16 GH16I003131 3131860 3132049 0.79 [{'connected_gene': 'ZNF213-AS1', 'score': 22.82}, {'connected_gene': 'ERVK13-1', 'score': 4.49}, {'connected_gene': 'ZNF213', 'score': 0.77}]
chr16 GH16I003182 3182481 3184460 1.76 [{'connected_gene': 'TRP-TGG3-4', 'score': 550.77}, {'connected_gene': 'ENSG00000262521', 'score': 550.77}, {'connected_gene': 'TRP-AGG2-7', 'score': 550.77}, {'connected_gene': 'ZNF75A', 'score': 40.8}, {'connected_gene': 'ZNF213-AS1', 'score': 39.69}, {'connected_gene': 'RNPS1', 'score': 22.36}, {'connected_gene': 'PDPK2P', 'score': 22.0}, {'connected_gene': 'LOC652276', 'score': 20.73}, {'connected_gene': 'ZSCAN32', 'score': 20.12}, {'connected_gene': 'E4F1', 'score': 19.38}, {'connected_gene': 'ENSG00000261938', 'score': 19.16}, {'connected_gene': 'LOC106660606', 'score': 12.83}, {'connected_gene': 'ENSG00000260095', 'score': 12.25}, {'connected_gene': 'ZNF205', 'score': 11.48}, {'connected_gene': 'PDPK1', 'score': 11.24}, {'connected_gene': 'ZNF597', 'score': 10.94}, {'connected_gene': 'ERVK13-1', 'score': 10.69}, {'connected_gene': 'MLST8', 'score': 10.37}, {'connected_gene': 'SLX4', 'score': 10.05}, {'connected_gene': 'ZNF174', 'score': 9.98}, {'connected_gene': 'MTRNR2L4', 'score': 9.77}, {'connected_gene': 'ZNF213', 'score': 5.34}]
chr16 GH16I003187 3187800 3189830 1.54 [{'connected_gene': 'TRP-TGG3-5', 'score': 550.77}, {'connected_gene': 'TRP-AGG2-8', 'score': 550.77}, {'connected_gene': 'ENSG00000262668', 'score': 550.77}, {'connected_gene': 'ZNF205', 'score': 33.78}, {'connected_gene': 'E4F1', 'score': 30.76}, {'connected_gene': 'ZNF75A', 'score': 28.69}, {'connected_gene': 'ENSG00000261938', 'score': 21.57}, {'connected_gene': 'ZNF213-AS1', 'score': 17.98}, {'connected_gene': 'ZNF263', 'score': 17.83}, {'connected_gene': 'AMDHD2', 'score': 17.44}, {'connected_gene': 'ZNF597', 'score': 15.25}, {'connected_gene': 'CREBBP', 'score': 15.13}, {'connected_gene': 'RNPS1', 'score': 14.1}, {'connected_gene': 'MTCO1P28', 'score': 12.59}, {'connected_gene': 'PDPK2P', 'score': 12.01}, {'connected_gene': 'SRRM2', 'score': 11.67}, {'connected_gene': 'THOC6', 'score': 11.56}, {'connected_gene': 'TIGD7', 'score': 11.31}, {'connected_gene': 'PDPK1', 'score': 11.24}, {'connected_gene': 'CLUAP1', 'score': 11.18}, {'connected_gene': 'ZNF200', 'score': 10.93}, {'connected_gene': 'LOC652276', 'score': 10.56}, {'connected_gene': 'ZNF174', 'score': 9.98}, {'connected_gene': 'MTRNR2L4', 'score': 9.77}, {'connected_gene': 'ZNF213', 'score': 5.04}]
chr16 GH16I003190 3190888 3191730 1.15 [{'connected_gene': 'TRP-AGG1-1', 'score': 550.77}, {'connected_gene': 'GC16P003510', 'score': 550.77}, {'connected_gene': 'GC16P003503', 'score': 550.77}, {'connected_gene': 'TRP-AGG2-8', 'score': 550.77}, {'connected_gene': 'TRK-CTT4-1', 'score': 550.77}, {'connected_gene': 'OR1F1', 'score': 550.77}, {'connected_gene': 'MTCO1P28', 'score': 57.83}, {'connected_gene': 'ZNF205', 'score': 46.1}, {'connected_gene': 'ZNF75A', 'score': 37.09}, {'connected_gene': 'CLUAP1', 'score': 33.57}, {'connected_gene': 'LOC105371050', 'score': 28.83}, {'connected_gene': 'ZNF213-AS1', 'score': 25.37}, {'connected_gene': 'TIGD7', 'score': 22.79}, {'connected_gene': 'PDPK2P', 'score': 20.02}, {'connected_gene': 'FLYWCH2', 'score': 14.95}, {'connected_gene': 'RNPS1', 'score': 14.1}, {'connected_gene': 'LOC101929566', 'score': 13.34}, {'connected_gene': 'ERVK13-1', 'score': 12.68}, {'connected_gene': 'PDPK1', 'score': 11.24}, {'connected_gene': 'MTND1P8', 'score': 10.72}, {'connected_gene': 'LOC652276', 'score': 10.56}, {'connected_gene': 'E4F1', 'score': 10.05}, {'connected_gene': 'ZSCAN32', 'score': 9.77}, {'connected_gene': 'MTRNR2L4', 'score': 9.73}, {'connected_gene': 'CASP16P', 'score': 6.69}, {'connected_gene': 'ZNF213', 'score': 5.28}, {'connected_gene': 'ZSCAN10', 'score': 5.1}, {'connected_gene': 'NLRC3', 'score': 2.33}, {'connected_gene': 'C16orf90', 'score': 1.83}, {'connected_gene': 'IL32', 'score': 1.38}, {'connected_gene': 'ENSG00000262668', 'score': 0.77}]
chr16 GH16I003193 3193921 3194010 0.56 [{'connected_gene': 'TRP-AGG1-1', 'score': 550.77}, {'connected_gene': 'GC16P003510', 'score': 550.77}, {'connected_gene': 'TRR-CCT5-1', 'score': 550.77}, {'connected_gene': 'GC16P003513', 'score': 550.77}, {'connected_gene': 'ZNF205', 'score': 15.47}, {'connected_gene': 'RNPS1', 'score': 14.1}, {'connected_gene': 'PDPK2P', 'score': 12.01}, {'connected_gene': 'PDPK1', 'score': 11.24}, {'connected_gene': 'ZNF75A', 'score': 10.78}, {'connected_gene': 'ZNF213-AS1', 'score': 10.75}, {'connected_gene': 'LOC652276', 'score': 10.56}, {'connected_gene': 'E4F1', 'score': 10.05}, {'connected_gene': 'ZNF213', 'score': 5.15}, {'connected_gene': 'GC16P003511', 'score': 0.77}, {'connected_gene': 'OR1F1', 'score': 0.77}, {'connected_gene': 'ENSG00000262668', 'score': 0.44}]
chr16 GH16I003128 3128664 3130468 1.62 [{'connected_gene': 'GC16M003129', 'score': 550.77}, {'connected_gene': 'ZNF213', 'score': 550.77}, {'connected_gene': 'PIR58259', 'score': 550.77}, {'connected_gene': 'IL32', 'score': 12.36}, {'connected_gene': 'RNU1-125P', 'score': 12.36}, {'connected_gene': 'MMP25', 'score': 11.55}, {'connected_gene': 'BICDL2', 'score': 11.53}, {'connected_gene': 'LOC100128770', 'score': 11.52}, {'connected_gene': 'HCFC1R1', 'score': 11.51}, {'connected_gene': 'THOC6', 'score': 11.51}, {'connected_gene': 'CLDN6', 'score': 11.51}, {'connected_gene': 'PKMYT1', 'score': 10.47}, {'connected_gene': 'ERVK13-1', 'score': 4.5}, {'connected_gene': 'ZNF213-AS1', 'score': 0.44}]
chr16 GH16I003069 3069467 3079292 1.57 [{'connected_gene': 'GC16P003518', 'score': 550.77}, {'connected_gene': 'ZNF205', 'score': 26.65}, {'connected_gene': 'LOC105371058', 'score': 23.9}, {'connected_gene': 'MMP25', 'score': 21.34}, {'connected_gene': 'IL32', 'score': 15.31}, {'connected_gene': 'FLYWCH2', 'score': 15.0}, {'connected_gene': 'BICDL2', 'score': 11.73}, {'connected_gene': 'LOC100128770', 'score': 11.72}, {'connected_gene': 'HCFC1R1', 'score': 11.69}, {'connected_gene': 'THOC6', 'score': 11.69}, {'connected_gene': 'CLDN6', 'score': 11.69}, {'connected_gene': 'TNFRSF12A', 'score': 11.11}, {'connected_gene': 'MTND1P8', 'score': 11.04}, {'connected_gene': 'RNPS1', 'score': 10.47}, {'connected_gene': 'ZNF75A', 'score': 10.4}, {'connected_gene': 'MTRNR2L4', 'score': 10.34}, {'connected_gene': 'ENSG00000261123', 'score': 10.28}, {'connected_gene': 'MTCO1P28', 'score': 10.15}, {'connected_gene': 'LOC105371049', 'score': 9.84}, {'connected_gene': 'ZNF597', 'score': 9.81}, {'connected_gene': 'TIGD7', 'score': 9.73}, {'connected_gene': 'ZNF213', 'score': 7.14}, {'connected_gene': 'ZNF205-AS1', 'score': 5.55}, {'connected_gene': 'ZNF213-AS1', 'score': 4.85}, {'connected_gene': 'PRSS33', 'score': 3.6}, {'connected_gene': 'ZNF200', 'score': 3.41}, {'connected_gene': 'ZSCAN32', 'score': 3.31}, {'connected_gene': 'MEFV', 'score': 2.04}, {'connected_gene': 'NAA60', 'score': 1.73}, {'connected_gene': 'SRRM2', 'score': 1.16}, {'connected_gene': 'RNU1-125P', 'score': 0.77}]
chr16 GH16I003148 3148721 3153649 1.54 [{'connected_gene': 'GC16P003506', 'score': 550.77}, {'connected_gene': 'TRR-CCT3-1', 'score': 550.77}, {'connected_gene': 'TRR-CCG1-3', 'score': 550.77}, {'connected_gene': 'TRP-AGG6-1', 'score': 550.77}, {'connected_gene': 'ZNF205', 'score': 60.14}, {'connected_gene': 'ZNF213-AS1', 'score': 42.26}, {'connected_gene': 'ZNF75A', 'score': 37.63}, {'connected_gene': 'THOC6', 'score': 34.41}, {'connected_gene': 'MTCO1P28', 'score': 32.64}, {'connected_gene': 'E4F1', 'score': 30.76}, {'connected_gene': 'ZNF263', 'score': 28.92}, {'connected_gene': 'AMDHD2', 'score': 26.68}, {'connected_gene': 'ZNF597', 'score': 26.58}, {'connected_gene': 'CREBBP', 'score': 25.06}, {'connected_gene': 'SRRM2', 'score': 24.65}, {'connected_gene': 'RNPS1', 'score': 22.36}, {'connected_gene': 'PDPK2P', 'score': 22.01}, {'connected_gene': 'ENSG00000261938', 'score': 21.57}, {'connected_gene': 'LOC652276', 'score': 20.73}, {'connected_gene': 'CLUAP1', 'score': 20.04}, {'connected_gene': 'LOC105371050', 'score': 19.69}, {'connected_gene': 'SNORD60', 'score': 19.14}, {'connected_gene': 'LOC101929566', 'score': 13.35}, {'connected_gene': 'TRAF7', 'score': 13.05}, {'connected_gene': 'LOC106660606', 'score': 12.83}, {'connected_gene': 'ENSG00000260095', 'score': 12.25}, {'connected_gene': 'LOC105371055', 'score': 12.03}, {'connected_gene': 'MMP25', 'score': 11.37}, {'connected_gene': 'BICDL2', 'score': 11.37}, {'connected_gene': 'HCFC1R1', 'score': 11.36}, {'connected_gene': 'LOC100128770', 'score': 11.36}, {'connected_gene': 'CLDN6', 'score': 11.35}, {'connected_gene': 'TIGD7', 'score': 11.28}, {'connected_gene': 'PDPK1', 'score': 11.24}, {'connected_gene': 'ZNF200', 'score': 10.85}, {'connected_gene': 'KCTD5', 'score': 10.68}, {'connected_gene': 'MLST8', 'score': 10.37}, {'connected_gene': 'ZSCAN32', 'score': 10.32}, {'connected_gene': 'SLX4', 'score': 10.06}, {'connected_gene': 'ZNF174', 'score': 9.97}, {'connected_gene': 'MTRNR2L4', 'score': 9.75}, {'connected_gene': 'ZNF213', 'score': 6.75}, {'connected_gene': 'CASP16P', 'score': 0.44}]
chr16 GH16I003156 3156900 3160687 2.07 [{'connected_gene': 'GC16M003157', 'score': 550.77}, {'connected_gene': 'TRK-CTT3-1', 'score': 550.77}, {'connected_gene': 'TRP-TGG3-3', 'score': 550.77}, {'connected_gene': 'ZNF75A', 'score': 54.9}, {'connected_gene': 'ZNF213-AS1', 'score': 51.47}, {'connected_gene': 'ZNF205', 'score': 44.76}, {'connected_gene': 'E4F1', 'score': 32.34}, {'connected_gene': 'RNPS1', 'score': 22.36}, {'connected_gene': 'PDPK2P', 'score': 22.01}, {'connected_gene': 'LOC652276', 'score': 20.73}, {'connected_gene': 'MTCO1P28', 'score': 20.47}, {'connected_gene': 'ZNF174', 'score': 19.35}, {'connected_gene': 'TIGD7', 'score': 18.59}, {'connected_gene': 'ZSCAN32', 'score': 18.51}, {'connected_gene': 'CLUAP1', 'score': 13.2}, {'connected_gene': 'LOC106660606', 'score': 12.83}, {'connected_gene': 'ERVK13-1', 'score': 12.7}, {'connected_gene': 'ENSG00000260095', 'score': 12.25}, {'connected_gene': 'PDPK1', 'score': 11.24}, {'connected_gene': 'ENSG00000261938', 'score': 10.53}, {'connected_gene': 'FLYWCH1', 'score': 10.42}, {'connected_gene': 'MLST8', 'score': 10.37}, {'connected_gene': 'MTND1P8', 'score': 10.13}, {'connected_gene': 'SLX4', 'score': 10.06}, {'connected_gene': 'MTRNR2L4', 'score': 9.75}, {'connected_gene': 'ZNF213', 'score': 7.57}, {'connected_gene': 'ZNF205-AS1', 'score': 5.83}, {'connected_gene': 'NLRC3', 'score': 5.4}, {'connected_gene': 'MEFV', 'score': 3.86}, {'connected_gene': 'ZNF200', 'score': 3.82}, {'connected_gene': 'SRRM2', 'score': 3.21}, {'connected_gene': 'ZNF597', 'score': 1.19}]

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