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
ENST00000020926 [[45261851, 45265907], [45267933, 45268063], [45273971, 45274273], [45275820, 45275955], [45277216, 45277442], [45307575, 45307870]] [[45265602, 45265907], [45267933, 45268063], [45273971, 45274273], [45275820, 45275955], [45277216, 45277442], [45307575, 45307758]]
ENST00000533332 [[45265251, 45265907], [45267933, 45268063], [45273971, 45274273], [45275820, 45275955], [45277216, 45277442], [45279931, 45280047], [45290957, 45291059], [45307575, 45307618]] [[45291041, 45291059], [45307575, 45307618]]
ENST00000528101 [[45274139, 45274273], [45275820, 45275955], [45277216, 45277442], [45307413, 45307475]] [[45274139, 45274273], [45275820, 45275955], [45277216, 45277442], [45307413, 45307475]]
NM_001247987 [[45261852, 45265907], [45267933, 45268063], [45273971, 45274273], [45275820, 45275955], [45277216, 45277442], [45279931, 45280047], [45290957, 45291059], [45307575, 45307884]] [[45265602, 45265907], [45267933, 45268063], [45273971, 45274273], [45275820, 45275932]]
NM_020826 [[45261852, 45265907], [45267933, 45268063], [45273971, 45274273], [45275820, 45275955], [45277216, 45277442], [45307575, 45307884]] [[45265602, 45265907], [45267933, 45268063], [45273971, 45274273], [45275820, 45275955], [45277216, 45277442], [45307575, 45307758]]
Promoter
Chrom Start End Description
chr11 45307765 45307784 CAGE_peak_2_at_SYT13_5end
chr11 45307785 45307803 CAGE_peak_3_at_SYT13_5end
chr11 45307817 45307898 CAGE_peak_1_at_SYT13_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I045105 45105154 45109169 0.71 [{'connected_gene': 'TP53I11', 'score': 12.22}, {'connected_gene': 'ENSG00000254497', 'score': 10.58}, {'connected_gene': 'LOC101928812', 'score': 6.8}, {'connected_gene': 'SYT13', 'score': 6.8}, {'connected_gene': 'PRDM11', 'score': 0.39}, {'connected_gene': 'LOC105376652', 'score': 0.28}]
chr11 GH11I045339 45339801 45340600 1.28 [{'connected_gene': 'CHST1', 'score': 10.16}, {'connected_gene': 'LOC101928812', 'score': 7.68}, {'connected_gene': 'SYT13', 'score': 0.23}]
chr11 GH11I045272 45272325 45273426 0.2 [{'connected_gene': 'SYT13', 'score': 27.9}, {'connected_gene': 'ENSG00000254664', 'score': 10.55}, {'connected_gene': 'CHST1', 'score': 9.24}, {'connected_gene': 'ENSG00000254497', 'score': 0.37}]
chr11 GH11I045207 45207879 45212138 0.96 [{'connected_gene': 'SYT13', 'score': 22.24}, {'connected_gene': 'ENSG00000254664', 'score': 11.77}, {'connected_gene': 'ENSG00000254497', 'score': 11.2}, {'connected_gene': 'PRDM11', 'score': 4.47}, {'connected_gene': 'LOC101060179', 'score': 0.77}, {'connected_gene': 'PIR62216', 'score': 0.21}]
chr11 GH11I045385 45385866 45386199 0.62 [{'connected_gene': 'SYT13', 'score': 6.81}, {'connected_gene': 'CRY2', 'score': 4.25}, {'connected_gene': 'ENSG00000254651', 'score': 0.39}, {'connected_gene': 'LOC399886', 'score': 0.39}]
chr11 GH11I045244 45244754 45245964 0.38 [{'connected_gene': 'SYT13', 'score': 10.59}, {'connected_gene': 'LOC101928812', 'score': 9.36}, {'connected_gene': 'PIR48754', 'score': 0.44}, {'connected_gene': 'ENSG00000254664', 'score': 0.39}]
chr11 GH11I045264 45264256 45267959 0.91 [{'connected_gene': 'SYT13', 'score': 28.08}, {'connected_gene': 'ENSG00000254664', 'score': 11.94}, {'connected_gene': 'LOC101928812', 'score': 4.53}, {'connected_gene': 'ENSG00000254497', 'score': 0.39}]
chr11 GH11I045178 45178974 45182444 1.55 [{'connected_gene': 'SYT13', 'score': 24.59}, {'connected_gene': 'ENSG00000254497', 'score': 11.1}, {'connected_gene': 'LOC101060179', 'score': 0.29}, {'connected_gene': 'PIR62216', 'score': 0.29}, {'connected_gene': 'PRDM11', 'score': 0.17}]
chr11 GH11I045176 45176796 45177992 0.46 [{'connected_gene': 'SYT13', 'score': 4.37}, {'connected_gene': 'PIR62216', 'score': 0.31}, {'connected_gene': 'LOC101060179', 'score': 0.28}, {'connected_gene': 'PRDM11', 'score': 0.18}]
chr11 GH11I045170 45170353 45171127 0.38 [{'connected_gene': 'SYT13', 'score': 12.33}, {'connected_gene': 'PIR62216', 'score': 0.34}, {'connected_gene': 'LOC101060179', 'score': 0.26}, {'connected_gene': 'PRDM11', 'score': 0.18}]
chr11 GH11I045202 45202023 45203361 0.2 [{'connected_gene': 'SYT13', 'score': 32.7}, {'connected_gene': 'ENSG00000254664', 'score': 11.7}, {'connected_gene': 'ENSG00000254497', 'score': 10.49}, {'connected_gene': 'LOC101060179', 'score': 0.39}, {'connected_gene': 'PIR62216', 'score': 0.23}, {'connected_gene': 'PRDM11', 'score': 0.14}]
chr11 GH11I045215 45215024 45216695 0.31 [{'connected_gene': 'SYT13', 'score': 37.36}, {'connected_gene': 'ENSG00000254497', 'score': 11.38}, {'connected_gene': 'LOC101060179', 'score': 0.77}, {'connected_gene': 'ENSG00000254664', 'score': 0.37}, {'connected_gene': 'GC11M045234', 'score': 0.37}, {'connected_gene': 'PRDM11', 'score': 0.13}]
chr11 GH11I045160 45160695 45163147 0.54 [{'connected_gene': 'SYT13', 'score': 10.62}, {'connected_gene': 'PIR62216', 'score': 0.39}, {'connected_gene': 'LOC101060179', 'score': 0.23}, {'connected_gene': 'PRDM11', 'score': 0.2}]
chr11 GH11I045285 45285084 45287070 1.19 [{'connected_gene': 'SYT13', 'score': 550.77}, {'connected_gene': 'ENSG00000254497', 'score': 11.51}]
chr11 GH11I045259 45259047 45260856 0.76 [{'connected_gene': 'SYT13', 'score': 29.24}, {'connected_gene': 'ENSG00000254497', 'score': 0.44}]
chr11 GH11I045332 45332490 45334459 1.12 [{'connected_gene': 'PRDM11', 'score': 18.94}, {'connected_gene': 'SYT13', 'score': 12.25}, {'connected_gene': 'ENSG00000254497', 'score': 11.05}, {'connected_gene': 'CHST1', 'score': 9.25}, {'connected_gene': 'LOC101928812', 'score': 0.34}]
chr11 GH11I045154 45154644 45159973 1.62 [{'connected_gene': 'PRDM11', 'score': 550.21}, {'connected_gene': 'SYT13', 'score': 20.42}, {'connected_gene': 'ENSG00000254497', 'score': 11.46}, {'connected_gene': 'ENSG00000254664', 'score': 10.22}, {'connected_gene': 'PIR62216', 'score': 0.44}, {'connected_gene': 'LOC101060179', 'score': 0.22}]
chr11 GH11I045145 45145605 45148340 2.42 [{'connected_gene': 'LOC105376652', 'score': 550.77}, {'connected_gene': 'PIR62216', 'score': 550.77}, {'connected_gene': 'PRDM11', 'score': 550.23}, {'connected_gene': 'SYT13', 'score': 7.59}, {'connected_gene': 'LOC101928812', 'score': 7.54}]
chr11 GH11I045343 45343429 45344694 0.38 [{'connected_gene': 'LOC101928812', 'score': 11.68}, {'connected_gene': 'CHST1', 'score': 10.58}, {'connected_gene': 'SYT13', 'score': 0.22}]
chr11 GH11I045354 45354870 45356199 1.57 [{'connected_gene': 'LOC101928812', 'score': 558.09}, {'connected_gene': 'CHST1', 'score': 10.21}, {'connected_gene': 'LOC105376658', 'score': 9.99}, {'connected_gene': 'ENSG00000254497', 'score': 9.99}, {'connected_gene': 'SYT13', 'score': 4.53}, {'connected_gene': 'LOC399886', 'score': 0.37}]
chr11 GH11I045087 45087719 45091000 1.22 [{'connected_gene': 'LOC101928812', 'score': 7.23}, {'connected_gene': 'SYT13', 'score': 5.07}, {'connected_gene': 'TP53I11', 'score': 1.62}, {'connected_gene': 'PRDM11', 'score': 0.77}, {'connected_gene': 'LOC105376650', 'score': 0.18}]
chr11 GH11I045085 45085252 45086664 0.63 [{'connected_gene': 'LOC101928812', 'score': 5.73}, {'connected_gene': 'SYT13', 'score': 4.89}, {'connected_gene': 'PRDM11', 'score': 0.44}, {'connected_gene': 'LOC105376650', 'score': 0.18}]
chr11 GH11I045089 45087250 45087399 0.4 [{'connected_gene': 'LOC101928812', 'score': 7.05}, {'connected_gene': 'SYT13', 'score': 4.98}, {'connected_gene': 'PRDM11', 'score': 0.44}, {'connected_gene': 'LOC105376650', 'score': 0.18}]
chr11 GH11I045360 45360055 45367295 0.56 [{'connected_gene': 'LOC101928812', 'score': 16.21}, {'connected_gene': 'DKFZp779M0652', 'score': 10.89}, {'connected_gene': 'ENSG00000255091', 'score': 10.3}, {'connected_gene': 'CHST1', 'score': 10.3}, {'connected_gene': 'SYT13', 'score': 4.76}, {'connected_gene': 'LOC399886', 'score': 0.44}]
chr11 GH11I044976 44976293 44981685 1.53 [{'connected_gene': 'LOC101928812', 'score': 21.41}, {'connected_gene': 'EXT2', 'score': 11.58}, {'connected_gene': 'MAPK8IP1', 'score': 10.34}, {'connected_gene': 'SYT13', 'score': 1.59}, {'connected_gene': 'TSPAN18', 'score': 1.24}, {'connected_gene': 'GC11P044981', 'score': 0.77}, {'connected_gene': 'LOC221122', 'score': 0.44}]
chr11 GH11I045662 45662601 45663968 1.05 [{'connected_gene': 'PIR58767', 'score': 550.77}, {'connected_gene': 'CHST1', 'score': 9.44}, {'connected_gene': 'LARGE2', 'score': 4.54}, {'connected_gene': 'MAPK8IP1', 'score': 2.64}, {'connected_gene': 'CRY2', 'score': 1.69}, {'connected_gene': 'SYT13', 'score': 1.63}, {'connected_gene': 'GC11M045649', 'score': 0.77}, {'connected_gene': 'PIRC51', 'score': 0.77}]
chr11 GH11I045233 45233400 45233673 0.81 [{'connected_gene': 'ENSG00000254664', 'score': 550.77}, {'connected_gene': 'GC11M045234', 'score': 550.77}, {'connected_gene': 'SYT13', 'score': 2.06}, {'connected_gene': 'CHST1', 'score': 1.57}, {'connected_gene': 'LOC101060179', 'score': 0.34}, {'connected_gene': 'PRDM11', 'score': 0.12}]
chr11 GH11I045193 45193057 45194274 0.4 [{'connected_gene': 'ENSG00000254664', 'score': 11.51}, {'connected_gene': 'ENSG00000254497', 'score': 11.32}, {'connected_gene': 'SYT13', 'score': 4.49}, {'connected_gene': 'LOC101060179', 'score': 0.37}, {'connected_gene': 'PIR62216', 'score': 0.25}, {'connected_gene': 'PRDM11', 'score': 0.15}]
chr11 GH11I045252 45252490 45252699 0.68 [{'connected_gene': 'ENSG00000254497', 'score': 550.77}, {'connected_gene': 'PIR48754', 'score': 550.77}, {'connected_gene': 'ENSG00000254664', 'score': 0.37}, {'connected_gene': 'SYT13', 'score': 0.29}]
chr11 GH11I045400 45400191 45401575 0.31 [{'connected_gene': 'ENSG00000254651', 'score': 558.25}, {'connected_gene': 'SYT13', 'score': 5.44}, {'connected_gene': 'ENSG00000255041', 'score': 0.14}]