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
ENST00000401670 [[1121843, 1121910], [1131042, 1132517]] [[1131364, 1132492]]
ENST00000413368 [[1126442, 1126880], [1127833, 1127957], [1131042, 1131585]] [[1131364, 1131585]]
ENST00000397092 [[1126442, 1126880], [1127833, 1127957], [1131042, 1133451]] [[1131364, 1132492]]
ENST00000297469 [[1126511, 1126880], [1131042, 1133451]] [[1131364, 1132492]]
ENST00000397088 [[1127722, 1127957], [1131042, 1133446]] [[1131364, 1132492]]
NM_001505 [[1126442, 1126880], [1131042, 1133451]] [[1131364, 1132492]]
NM_001039966 [[1126442, 1126880], [1127833, 1127957], [1131042, 1133451]] [[1131364, 1132492]]
NM_001098201 [[1127722, 1127957], [1131042, 1133451]] [[1131364, 1132492]]
Promoter
Chrom Start End Description
chr7 1126437 1126458 CAGE_peak_5_at_GPER_5end
chr7 1126461 1126486 CAGE_peak_6_at_GPER_5end
chr7 1126745 1126763 CAGE_peak_4_at_GPER_5end
chr7 1126779 1126820 CAGE_peak_2_at_GPER_5end
chr7 1127742 1127762 CAGE_peak_1_at_GPER_5end
chr7 1127812 1127831 CAGE_peak_3_at_GPER_5end
chr7 1130932 1130937 CAGE_peak_7_at_GPER_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I000971 971861 980626 2.71 [{'connected_gene': 'COX19', 'score': 559.81}, {'connected_gene': 'CYP2W1', 'score': 45.73}, {'connected_gene': 'LOC105375120', 'score': 22.3}, {'connected_gene': 'GPR146', 'score': 20.58}, {'connected_gene': 'DNAAF5', 'score': 15.14}, {'connected_gene': 'MIR339', 'score': 13.04}, {'connected_gene': 'ADAP1', 'score': 12.7}, {'connected_gene': 'ENSG00000225146', 'score': 11.64}, {'connected_gene': 'C7orf50', 'score': 11.5}, {'connected_gene': 'SUN1', 'score': 11.08}, {'connected_gene': 'LOC101927021', 'score': 9.4}, {'connected_gene': 'GPER1', 'score': 5.21}, {'connected_gene': 'GET4', 'score': 3.46}, {'connected_gene': 'PRKAR1B', 'score': 1.43}]
chr7 GH07I001191 1191989 1192973 0.88 [{'connected_gene': 'ZFAND2A', 'score': 6.23}, {'connected_gene': 'LOC105375120', 'score': 6.04}, {'connected_gene': 'GPER1', 'score': 4.68}, {'connected_gene': 'GC07P001203', 'score': 0.39}, {'connected_gene': 'GC07P001163', 'score': 0.31}]
chr7 GH07I000962 962804 966199 1.12 [{'connected_gene': 'CYP2W1', 'score': 25.32}, {'connected_gene': 'LOC101927021', 'score': 20.35}, {'connected_gene': 'LOC105375120', 'score': 12.37}, {'connected_gene': 'C7orf50', 'score': 11.16}, {'connected_gene': 'ZFAND2A', 'score': 10.38}, {'connected_gene': 'COX19', 'score': 7.72}, {'connected_gene': 'GPER1', 'score': 6.38}, {'connected_gene': 'PIR60263', 'score': 0.77}, {'connected_gene': 'PIR61474', 'score': 0.77}]
chr7 GH07I001084 1084805 1085602 0.4 [{'connected_gene': 'GPER1', 'score': 0.77}, {'connected_gene': 'PIR42335', 'score': 0.44}, {'connected_gene': 'C7orf50', 'score': 0.23}]
chr7 GH07I001090 1090006 1091400 0.6 [{'connected_gene': 'GPER1', 'score': 19.89}, {'connected_gene': 'LOC105375120', 'score': 12.52}, {'connected_gene': 'PIR42335', 'score': 0.77}, {'connected_gene': 'C7orf50', 'score': 0.25}]
chr7 GH07I001085 1085667 1089471 2.44 [{'connected_gene': 'GPER1', 'score': 556.56}, {'connected_gene': 'LOC105375120', 'score': 22.38}, {'connected_gene': 'LOC101927021', 'score': 13.74}, {'connected_gene': 'ZFAND2A', 'score': 6.53}, {'connected_gene': 'PIR42335', 'score': 0.44}, {'connected_gene': 'C7orf50', 'score': 0.23}]
chr7 GH07I001081 1081685 1082443 0.62 [{'connected_gene': 'GPER1', 'score': 550.77}, {'connected_gene': 'ENSG00000226291', 'score': 550.77}, {'connected_gene': 'LOC101927021', 'score': 58.76}, {'connected_gene': 'C7orf50', 'score': 0.22}]
chr7 GH07I001083 1083617 1084290 0.2 [{'connected_gene': 'GPER1', 'score': 550.77}, {'connected_gene': 'LOC101927021', 'score': 57.31}, {'connected_gene': 'PIR42335', 'score': 0.44}, {'connected_gene': 'C7orf50', 'score': 0.23}]
chr7 GH07I001043 1043234 1046238 1.71 [{'connected_gene': 'GPR146', 'score': 550.77}, {'connected_gene': 'LOC105375120', 'score': 44.37}, {'connected_gene': 'ZFAND2A', 'score': 18.83}, {'connected_gene': 'MIR339', 'score': 12.76}, {'connected_gene': 'CYP2W1', 'score': 12.24}, {'connected_gene': 'COX19', 'score': 11.35}, {'connected_gene': 'LOC101927021', 'score': 11.15}, {'connected_gene': 'C7orf50', 'score': 10.44}, {'connected_gene': 'GPER1', 'score': 9.06}, {'connected_gene': 'PIR31890', 'score': 0.77}, {'connected_gene': 'GC07M001041', 'score': 0.37}, {'connected_gene': 'ENSG00000225146', 'score': 0.37}]
chr7 GH07I001051 1051994 1056800 1.76 [{'connected_gene': 'GPR146', 'score': 550.44}, {'connected_gene': 'LOC105375120', 'score': 48.03}, {'connected_gene': 'LOC101927021', 'score': 43.94}, {'connected_gene': 'ZFAND2A', 'score': 13.04}, {'connected_gene': 'COX19', 'score': 12.46}, {'connected_gene': 'GPER1', 'score': 5.54}, {'connected_gene': 'FAM20C', 'score': 4.88}, {'connected_gene': 'GC07P001058', 'score': 0.77}, {'connected_gene': 'ENSG00000257607', 'score': 0.77}, {'connected_gene': 'GC07M001041', 'score': 0.44}, {'connected_gene': 'PIR31890', 'score': 0.44}, {'connected_gene': 'C7orf50', 'score': 0.18}]
chr7 GH07I001065 1065338 1067189 1.3 [{'connected_gene': 'LOC105375120', 'score': 48.03}, {'connected_gene': 'LOC101927021', 'score': 46.17}, {'connected_gene': 'ZFAND2A', 'score': 19.18}, {'connected_gene': 'GPER1', 'score': 4.98}, {'connected_gene': 'GC07P001069', 'score': 0.77}, {'connected_gene': 'GC07M001041', 'score': 0.44}, {'connected_gene': 'C7orf50', 'score': 0.19}]
chr7 GH07I001105 1105970 1107463 0.4 [{'connected_gene': 'LOC105375120', 'score': 20.31}, {'connected_gene': 'LOC101927021', 'score': 20.27}, {'connected_gene': 'C7orf50', 'score': 12.06}, {'connected_gene': 'MIR339', 'score': 11.33}, {'connected_gene': 'GPR146', 'score': 11.24}, {'connected_gene': 'ENSG00000225146', 'score': 11.21}, {'connected_gene': 'ZFAND2A', 'score': 11.16}, {'connected_gene': 'GPER1', 'score': 11.04}, {'connected_gene': 'PIR59593', 'score': 0.77}, {'connected_gene': 'PIR42335', 'score': 0.39}]
chr7 GH07I001075 1075445 1077000 0.94 [{'connected_gene': 'LOC105375120', 'score': 568.21}, {'connected_gene': 'LOC101927021', 'score': 53.32}, {'connected_gene': 'GPER1', 'score': 11.58}, {'connected_gene': 'ENSG00000226291', 'score': 0.77}, {'connected_gene': 'C7orf50', 'score': 0.21}]
chr7 GH07I001122 1122775 1125802 1.04 [{'connected_gene': 'LOC102723758', 'score': 550.77}, {'connected_gene': 'LOC101927021', 'score': 49.61}, {'connected_gene': 'GPR146', 'score': 16.3}, {'connected_gene': 'LOC105375120', 'score': 15.75}, {'connected_gene': 'ZFAND2A', 'score': 12.37}, {'connected_gene': 'CYP2W1', 'score': 11.65}, {'connected_gene': 'ENSG00000225146', 'score': 11.24}, {'connected_gene': 'MIR339', 'score': 10.61}, {'connected_gene': 'GPER1', 'score': 8.06}, {'connected_gene': 'PIR49984', 'score': 0.77}, {'connected_gene': 'C7orf50', 'score': 0.39}]
chr7 GH07I001100 1100043 1102212 1.29 [{'connected_gene': 'LOC101927021', 'score': 59.63}, {'connected_gene': 'ZFAND2A', 'score': 32.87}, {'connected_gene': 'LOC105375120', 'score': 32.27}, {'connected_gene': 'GPER1', 'score': 19.59}, {'connected_gene': 'C7orf50', 'score': 11.52}, {'connected_gene': 'MIR339', 'score': 11.36}, {'connected_gene': 'GPR146', 'score': 11.06}, {'connected_gene': 'ENSG00000225146', 'score': 11.03}, {'connected_gene': 'ADAP1', 'score': 10.8}, {'connected_gene': 'TMEM184A', 'score': 3.36}, {'connected_gene': 'SUN1', 'score': 1.74}, {'connected_gene': 'PIR59593', 'score': 0.44}, {'connected_gene': 'PIR42335', 'score': 0.44}]
chr7 GH07I001099 1099636 1099880 0.84 [{'connected_gene': 'LOC101927021', 'score': 32.47}, {'connected_gene': 'GPER1', 'score': 17.96}, {'connected_gene': 'C7orf50', 'score': 11.52}, {'connected_gene': 'MIR339', 'score': 11.36}, {'connected_gene': 'GPR146', 'score': 11.06}, {'connected_gene': 'ENSG00000225146', 'score': 11.03}, {'connected_gene': 'ADAP1', 'score': 10.8}, {'connected_gene': 'TMEM184A', 'score': 3.23}, {'connected_gene': 'SUN1', 'score': 1.29}, {'connected_gene': 'PIR59593', 'score': 0.44}, {'connected_gene': 'PIR42335', 'score': 0.44}]
chr7 GH07I001078 1078520 1079004 0.79 [{'connected_gene': 'LOC101927021', 'score': 57.94}, {'connected_gene': 'GPR146', 'score': 12.56}, {'connected_gene': 'ENSG00000225146', 'score': 12.51}, {'connected_gene': 'C7orf50', 'score': 12.49}, {'connected_gene': 'ZFAND2A', 'score': 11.33}, {'connected_gene': 'ADAP1', 'score': 11.3}, {'connected_gene': 'GPER1', 'score': 5.8}, {'connected_gene': 'LOC105375120', 'score': 0.77}, {'connected_gene': 'ENSG00000226291', 'score': 0.77}]
chr7 GH07I001102 1102684 1105553 1.21 [{'connected_gene': 'LOC101927021', 'score': 45.26}, {'connected_gene': 'LOC105375120', 'score': 31.97}, {'connected_gene': 'GPER1', 'score': 19.8}, {'connected_gene': 'C7orf50', 'score': 12.34}, {'connected_gene': 'MIR339', 'score': 11.57}, {'connected_gene': 'GPR146', 'score': 11.47}, {'connected_gene': 'ZFAND2A', 'score': 11.39}, {'connected_gene': 'ENSG00000225146', 'score': 11.21}, {'connected_gene': 'ADAP1', 'score': 11.21}, {'connected_gene': 'PIR59593', 'score': 0.77}, {'connected_gene': 'PIR42335', 'score': 0.39}]
chr7 GH07I001092 1092825 1093040 1.04 [{'connected_gene': 'PIR42335', 'score': 550.77}, {'connected_gene': 'LOC105375120', 'score': 22.22}, {'connected_gene': 'COX19', 'score': 6.32}, {'connected_gene': 'GPER1', 'score': 0.39}, {'connected_gene': 'C7orf50', 'score': 0.25}]
chr7 GH07I001049 1049001 1050000 1.05 [{'connected_gene': 'PIR31890', 'score': 550.77}, {'connected_gene': 'LOC105375120', 'score': 44.39}, {'connected_gene': 'COX19', 'score': 10.32}, {'connected_gene': 'GPER1', 'score': 5.32}, {'connected_gene': 'GPR146', 'score': 0.77}, {'connected_gene': 'GC07P001058', 'score': 0.44}, {'connected_gene': 'GC07M001041', 'score': 0.39}, {'connected_gene': 'C7orf50', 'score': 0.17}]
chr7 GH07I001058 1058425 1061325 1.45 [{'connected_gene': 'GC07M001041', 'score': 550.77}, {'connected_gene': 'PIR54334', 'score': 550.77}, {'connected_gene': 'ENSG00000257607', 'score': 550.77}, {'connected_gene': 'LOC105375120', 'score': 47.99}, {'connected_gene': 'LOC101927021', 'score': 31.42}, {'connected_gene': 'ZFAND2A', 'score': 9.69}, {'connected_gene': 'COX19', 'score': 6.65}, {'connected_gene': 'GPER1', 'score': 5.06}, {'connected_gene': 'MAFK', 'score': 3.97}, {'connected_gene': 'ADAP1', 'score': 3.09}, {'connected_gene': 'GPR146', 'score': 0.37}, {'connected_gene': 'C7orf50', 'score': 0.18}]
chr7 GH07I001022 1022758 1030186 2.19 [{'connected_gene': 'PIR42102', 'score': 550.77}, {'connected_gene': 'LOC105375120', 'score': 43.66}, {'connected_gene': 'LOC101927021', 'score': 34.49}, {'connected_gene': 'CYP2W1', 'score': 24.97}, {'connected_gene': 'ZFAND2A', 'score': 18.07}, {'connected_gene': 'COX19', 'score': 12.52}, {'connected_gene': 'DNAAF5', 'score': 10.9}, {'connected_gene': 'SUN1', 'score': 9.78}, {'connected_gene': 'GPER1', 'score': 7.97}, {'connected_gene': 'FAM20C', 'score': 5.05}, {'connected_gene': 'MIR339', 'score': 0.77}, {'connected_gene': 'ENSG00000225146', 'score': 0.77}, {'connected_gene': 'C7orf50', 'score': 0.14}]
chr7 GH07I001126 1126693 1127487 0.38 [{'connected_gene': 'PIR49984', 'score': 550.77}, {'connected_gene': 'LOC101927021', 'score': 12.38}, {'connected_gene': 'ZFAND2A', 'score': 12.38}, {'connected_gene': 'CYP2W1', 'score': 11.65}, {'connected_gene': 'GPR146', 'score': 11.26}, {'connected_gene': 'ENSG00000225146', 'score': 11.24}, {'connected_gene': 'MIR339', 'score': 10.61}, {'connected_gene': 'GPER1', 'score': 8.06}, {'connected_gene': 'LOC102723758', 'score': 0.77}, {'connected_gene': 'C7orf50', 'score': 0.39}]
chr7 GH07I001110 1110220 1110741 0.2 [{'connected_gene': 'PIR59593', 'score': 550.77}, {'connected_gene': 'LOC101927021', 'score': 46.69}, {'connected_gene': 'C7orf50', 'score': 12.08}, {'connected_gene': 'MIR339', 'score': 11.33}, {'connected_gene': 'GPR146', 'score': 11.23}, {'connected_gene': 'ENSG00000225146', 'score': 11.21}, {'connected_gene': 'ZFAND2A', 'score': 11.16}, {'connected_gene': 'GPER1', 'score': 8.63}, {'connected_gene': 'PIR46511', 'score': 0.44}]