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
ENST00000301998 [[62423247, 62423490], [62449346, 62451866]] [[62449355, 62450549]]
ENST00000405767 [[62442652, 62442750], [62449346, 62451684]] [[62449355, 62450549]]
NM_006577 [[62423261, 62423490], [62449346, 62451866]] [[62449355, 62450549]]
NM_001319075 [[62442655, 62442750], [62449346, 62451866]] [[62449355, 62450549]]
Promoter
Chrom Start End Description
chr2 62423214 62423235 CAGE_peak_2_at_B3GNT2_5end
chr2 62423242 62423288 CAGE_peak_1_at_B3GNT2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I062320 62320440 62322209 0.86 [{'connected_gene': 'XPO1', 'score': 37.49}, {'connected_gene': 'USP34', 'score': 27.83}, {'connected_gene': 'ENSG00000236498', 'score': 22.92}, {'connected_gene': 'B3GNT2', 'score': 20.15}, {'connected_gene': 'CCT4', 'score': 10.83}, {'connected_gene': 'GC02M062151', 'score': 0.39}, {'connected_gene': 'LOC105374761', 'score': 0.22}]
chr2 GH02I062140 62140131 62142679 0.75 [{'connected_gene': 'B3GNT2', 'score': 12.03}, {'connected_gene': 'FAM161A', 'score': 4.58}, {'connected_gene': 'RPSAP26', 'score': 0.77}, {'connected_gene': 'ENSG00000229839', 'score': 0.44}, {'connected_gene': 'GC02P062003', 'score': 0.12}, {'connected_gene': 'COMMD1', 'score': 0.07}]
chr2 GH02I062147 62147397 62151673 1.12 [{'connected_gene': 'B3GNT2', 'score': 15.12}, {'connected_gene': 'FAM161A', 'score': 4.14}, {'connected_gene': 'ENSG00000229839', 'score': 0.77}, {'connected_gene': 'ENSG00000271657', 'score': 0.37}, {'connected_gene': 'GC02M062151', 'score': 0.09}]
chr2 GH02I062194 62194156 62201218 2.5 [{'connected_gene': 'B3GNT2', 'score': 554.72}, {'connected_gene': 'XPO1', 'score': 19.45}, {'connected_gene': 'USP34', 'score': 10.11}, {'connected_gene': 'LOC105377633', 'score': 9.71}, {'connected_gene': 'GC02P062192', 'score': 0.44}, {'connected_gene': 'MIR5192', 'score': 0.44}, {'connected_gene': 'GC02M062151', 'score': 0.12}]
chr2 GH02I062287 62287426 62289010 1.35 [{'connected_gene': 'B3GNT2', 'score': 19.82}, {'connected_gene': 'XPO1', 'score': 13.33}, {'connected_gene': 'ENSG00000236498', 'score': 10.27}, {'connected_gene': 'CCT4', 'score': 9.98}, {'connected_gene': 'LOC105374761', 'score': 0.34}, {'connected_gene': 'GC02M062151', 'score': 0.25}]
chr2 GH02I062102 62102586 62102735 0.46 [{'connected_gene': 'B3GNT2', 'score': 11.45}, {'connected_gene': 'ENSG00000229839', 'score': 0.26}, {'connected_gene': 'RPSAP26', 'score': 0.26}, {'connected_gene': 'GC02P062003', 'score': 0.15}, {'connected_gene': 'COMMD1', 'score': 0.08}]
chr2 GH02I062297 62295746 62297795 1.15 [{'connected_gene': 'B3GNT2', 'score': 25.71}, {'connected_gene': 'ENSG00000236498', 'score': 10.57}, {'connected_gene': 'TMEM17', 'score': 4.73}, {'connected_gene': 'LOC105374761', 'score': 0.29}, {'connected_gene': 'GC02M062151', 'score': 0.28}]
chr2 GH02I062038 62038854 62040586 1.07 [{'connected_gene': 'B3GNT2', 'score': 10.99}, {'connected_gene': 'CCT4', 'score': 10.14}, {'connected_gene': 'COMMD1', 'score': 10.14}, {'connected_gene': 'GC02P062003', 'score': 0.28}, {'connected_gene': 'RPSAP26', 'score': 0.14}]
chr2 GH02I062158 62158981 62159375 0.22 [{'connected_gene': 'B3GNT2', 'score': 11.4}, {'connected_gene': 'CCT4', 'score': 10.04}, {'connected_gene': 'COMMD1', 'score': 10.04}, {'connected_gene': 'ENSG00000271657', 'score': 0.44}, {'connected_gene': 'ENSG00000229839', 'score': 0.39}, {'connected_gene': 'GC02M062151', 'score': 0.09}]
chr2 GH02I062364 62364356 62365535 0.31 [{'connected_gene': 'B3GNT2', 'score': 11.59}, {'connected_gene': 'CCT4', 'score': 10.11}, {'connected_gene': 'COMMD1', 'score': 10.11}, {'connected_gene': 'ENSG00000270335', 'score': 0.39}, {'connected_gene': 'GC02M062375', 'score': 0.39}]
chr2 GH02I062398 62398343 62398886 0.46 [{'connected_gene': 'B3GNT2', 'score': 11.23}, {'connected_gene': 'CCT4', 'score': 10.4}, {'connected_gene': 'COMMD1', 'score': 10.4}, {'connected_gene': 'GC02M062385', 'score': 0.39}, {'connected_gene': 'ENSG00000228541', 'score': 0.21}]
chr2 GH02I062302 62302506 62310469 1.66 [{'connected_gene': 'B3GNT2', 'score': 29.6}, {'connected_gene': 'GC02M062151', 'score': 0.31}, {'connected_gene': 'LOC105374761', 'score': 0.26}]
chr2 GH02I062313 62313245 62315121 1.21 [{'connected_gene': 'B3GNT2', 'score': 20.44}, {'connected_gene': 'GC02M062151', 'score': 0.37}, {'connected_gene': 'LOC105374761', 'score': 0.25}]
chr2 GH02I062318 62318429 62319969 0.57 [{'connected_gene': 'B3GNT2', 'score': 21.51}, {'connected_gene': 'GC02M062151', 'score': 0.39}, {'connected_gene': 'LOC105374761', 'score': 0.23}]
chr2 GH02I062292 62292078 62294482 1.31 [{'connected_gene': 'B3GNT2', 'score': 25.86}, {'connected_gene': 'LOC105374761', 'score': 0.31}, {'connected_gene': 'GC02M062151', 'score': 0.26}]
chr2 GH02I062214 62214906 62221599 1.47 [{'connected_gene': 'B3GNT2', 'score': 562.67}, {'connected_gene': 'MIR5192', 'score': 0.39}, {'connected_gene': 'RN7SL51P', 'score': 0.26}, {'connected_gene': 'GC02M062151', 'score': 0.13}]
chr2 GH02I062222 62222049 62223414 0.2 [{'connected_gene': 'B3GNT2', 'score': 12.2}, {'connected_gene': 'MIR5192', 'score': 0.37}, {'connected_gene': 'RN7SL51P', 'score': 0.28}, {'connected_gene': 'GC02M062151', 'score': 0.14}]
chr2 GH02I062362 62362012 62363384 0.88 [{'connected_gene': 'B3GNT2', 'score': 7.21}, {'connected_gene': 'ENSG00000270335', 'score': 0.39}, {'connected_gene': 'GC02M062375', 'score': 0.39}]
chr2 GH02I062354 62354037 62356058 0.56 [{'connected_gene': 'B3GNT2', 'score': 6.91}, {'connected_gene': 'ENSG00000270335', 'score': 0.77}, {'connected_gene': 'GC02M062375', 'score': 0.34}]
chr2 GH02I062152 62152106 62152275 0.31 [{'connected_gene': 'B3GNT2', 'score': 12.23}, {'connected_gene': 'ENSG00000229839', 'score': 0.44}, {'connected_gene': 'ENSG00000271657', 'score': 0.37}, {'connected_gene': 'GC02M062151', 'score': 0.09}]
chr2 GH02I062163 62163289 62165099 0.79 [{'connected_gene': 'B3GNT2', 'score': 11.62}, {'connected_gene': 'ENSG00000271657', 'score': 0.77}, {'connected_gene': 'ENSG00000229839', 'score': 0.37}, {'connected_gene': 'GC02M062151', 'score': 0.1}]
chr2 GH02I062381 62381626 62383200 0.69 [{'connected_gene': 'B3GNT2', 'score': 4.94}, {'connected_gene': 'GC02M062384', 'score': 0.77}, {'connected_gene': 'GC02M062375', 'score': 0.44}]
chr2 GH02I062340 62340719 62341854 0.91 [{'connected_gene': 'B3GNT2', 'score': 23.91}, {'connected_gene': 'GC02P062346', 'score': 0.77}, {'connected_gene': 'GC02M062151', 'score': 0.44}]
chr2 GH02I062266 62266448 62267455 0.58 [{'connected_gene': 'CCT4', 'score': 9.71}, {'connected_gene': 'COMMD1', 'score': 9.71}, {'connected_gene': 'B3GNT2', 'score': 4.43}, {'connected_gene': 'LOC105374761', 'score': 0.77}, {'connected_gene': 'GC02M062151', 'score': 0.2}]
chr2 GH02I062201 62201424 62203200 1.07 [{'connected_gene': 'CCT4', 'score': 5.12}, {'connected_gene': 'MIR5192', 'score': 0.77}, {'connected_gene': 'B3GNT2', 'score': 0.44}, {'connected_gene': 'GC02M062151', 'score': 0.12}]
chr2 GH02I062264 62264601 62264800 0.2 [{'connected_gene': 'LOC105374761', 'score': 550.77}, {'connected_gene': 'B3GNT2', 'score': 4.48}, {'connected_gene': 'GC02M062151', 'score': 0.2}]
chr2 GH02I062265 62265098 62265600 0.58 [{'connected_gene': 'LOC105374761', 'score': 550.77}, {'connected_gene': 'B3GNT2', 'score': 7.09}, {'connected_gene': 'GC02M062151', 'score': 0.2}]
chr2 GH02I062212 62212401 62212800 0.2 [{'connected_gene': 'MIR5192', 'score': 0.44}, {'connected_gene': 'B3GNT2', 'score': 0.37}, {'connected_gene': 'RN7SL51P', 'score': 0.23}, {'connected_gene': 'GC02M062151', 'score': 0.13}]
chr2 GH02I062208 62208377 62209723 0.86 [{'connected_gene': 'MIR5192', 'score': 0.77}, {'connected_gene': 'B3GNT2', 'score': 0.39}, {'connected_gene': 'RN7SL51P', 'score': 0.23}, {'connected_gene': 'GC02M062151', 'score': 0.13}]
chr2 GH02I062209 62209826 62209847 0.31 [{'connected_gene': 'MIR5192', 'score': 0.77}, {'connected_gene': 'B3GNT2', 'score': 0.39}, {'connected_gene': 'RN7SL51P', 'score': 0.23}, {'connected_gene': 'GC02M062151', 'score': 0.13}]
chr2 GH02I062204 62204801 62206000 0.31 [{'connected_gene': 'MIR5192', 'score': 550.77}, {'connected_gene': 'B3GNT2', 'score': 0.44}, {'connected_gene': 'GC02M062151', 'score': 0.13}]
chr2 GH02I062374 62374406 62374555 0.2 [{'connected_gene': 'GC02M062375', 'score': 550.77}, {'connected_gene': 'B3GNT2', 'score': 11.59}, {'connected_gene': 'CCT4', 'score': 10.11}, {'connected_gene': 'COMMD1', 'score': 10.11}, {'connected_gene': 'ENSG00000270335', 'score': 0.34}]
chr2 GH02I062331 62331722 62336048 0.74 [{'connected_gene': 'GC02M062151', 'score': 550.77}, {'connected_gene': 'B3GNT2', 'score': 24.25}, {'connected_gene': 'GC02P062346', 'score': 0.39}]
chr2 GH02I062192 62192201 62193520 0.46 [{'connected_gene': 'GC02P062192', 'score': 550.77}, {'connected_gene': 'B3GNT2', 'score': 0.77}, {'connected_gene': 'GC02M062151', 'score': 0.11}]
chr2 GH02I062343 62343000 62344675 0.96 [{'connected_gene': 'GC02P062346', 'score': 550.77}, {'connected_gene': 'B3GNT2', 'score': 11.46}, {'connected_gene': 'GC02M062151', 'score': 0.39}]