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
ENST00000322475 [[51796502, 51796705], [51805483, 51805515], [51825603, 51826337], [51854585, 51858377]] [[51796637, 51796705], [51805483, 51805515], [51825603, 51826337], [51854585, 51855392]]
ENST00000280057 [[51796506, 51796705], [51805483, 51805515], [51819447, 51819555], [51825603, 51826337], [51854585, 51855616]] [[51796637, 51796705], [51805483, 51805515], [51819447, 51819555], [51825603, 51826337], [51854585, 51855392]]
ENST00000497449 [[51796512, 51796705], [51799256, 51799492], [51801382, 51801565]] None
NM_001330522 [[51796469, 51796705], [51805483, 51805515], [51825603, 51827750]] [[51796637, 51796705], [51805483, 51805515], [51825603, 51826409]]
NM_001242312 [[51796469, 51796705], [51805483, 51805515], [51825603, 51826337], [51854585, 51858377]] [[51796637, 51796705], [51805483, 51805515], [51825603, 51826337], [51854585, 51855392]]
NM_145019 [[51796469, 51796705], [51805483, 51805515], [51819447, 51819555], [51825603, 51826337], [51854585, 51858377]] [[51796637, 51796705], [51805483, 51805515], [51819447, 51819555], [51825603, 51826337], [51854585, 51855392]]
Promoter
Chrom Start End Description
chr13 51796497 51796517 CAGE_peak_1_at_FAM124A_5end
chr13 51796528 51796540 CAGE_peak_2_at_FAM124A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I051839 51839364 51840062 0.31 [{'connected_gene': 'CCDC70', 'score': 13.21}, {'connected_gene': 'DHRS12', 'score': 11.63}, {'connected_gene': 'ENSG00000231856', 'score': 11.63}, {'connected_gene': 'ALG11', 'score': 10.22}, {'connected_gene': 'UTP14C', 'score': 10.21}, {'connected_gene': 'NEK5', 'score': 9.95}, {'connected_gene': 'FAM124A', 'score': 9.2}, {'connected_gene': 'VPS36', 'score': 4.72}, {'connected_gene': 'TMEM272', 'score': 0.44}]
chr13 GH13I051425 51425125 51426405 0.46 [{'connected_gene': 'DHRS12', 'score': 10.25}, {'connected_gene': 'ENSG00000231856', 'score': 10.25}, {'connected_gene': 'FAM124A', 'score': 10.02}, {'connected_gene': 'NEK5', 'score': 9.96}, {'connected_gene': 'INTS6', 'score': 0.31}, {'connected_gene': 'INTS6-AS1', 'score': 0.31}, {'connected_gene': 'GC13M051362', 'score': 0.21}]
chr13 GH13I051397 51397188 51397801 0.94 [{'connected_gene': 'DHRS12', 'score': 9.7}, {'connected_gene': 'ENSG00000231856', 'score': 9.7}, {'connected_gene': 'FAM124A', 'score': 9.64}, {'connected_gene': 'GC13M051362', 'score': 0.29}, {'connected_gene': 'INTS6-AS1', 'score': 0.23}, {'connected_gene': 'INTS6', 'score': 0.22}]
chr13 GH13I051311 51311585 51312477 0.43 [{'connected_gene': 'SERPINE3', 'score': 12.84}, {'connected_gene': 'FAM124A', 'score': 10.77}, {'connected_gene': 'NEK3', 'score': 4.53}, {'connected_gene': 'GC13P051260', 'score': 0.23}]
chr13 GH13I051341 51341049 51341108 0.5 [{'connected_gene': 'SERPINE3', 'score': 550.44}, {'connected_gene': 'FAM124A', 'score': 10.1}, {'connected_gene': 'MIR5693', 'score': 0.44}]
chr13 GH13I051167 51167239 51171330 0.46 [{'connected_gene': 'C13orf42', 'score': 19.54}, {'connected_gene': 'FAM124A', 'score': 11.07}, {'connected_gene': 'RPL5P31', 'score': 0.44}, {'connected_gene': 'GC13P051177', 'score': 0.44}]
chr13 GH13I051315 51315058 51316354 0.82 [{'connected_gene': 'ALG11', 'score': 35.64}, {'connected_gene': 'INTS6', 'score': 18.61}, {'connected_gene': 'SERPINE3', 'score': 12.26}, {'connected_gene': 'UTP14C', 'score': 11.4}, {'connected_gene': 'FAM124A', 'score': 11.15}, {'connected_gene': 'RNASEH2B', 'score': 10.3}, {'connected_gene': 'GC13P051260', 'score': 0.23}]
chr13 GH13I051096 51096985 51098069 0.31 [{'connected_gene': 'GUCY1B2', 'score': 11.82}, {'connected_gene': 'FAM124A', 'score': 10.48}, {'connected_gene': 'PIR49595', 'score': 0.37}, {'connected_gene': 'C13orf42', 'score': 0.15}]
chr13 GH13I051241 51241765 51242005 0.64 [{'connected_gene': 'INTS6', 'score': 5.43}, {'connected_gene': 'GC13P051237', 'score': 0.77}, {'connected_gene': 'FAM124A', 'score': 0.37}, {'connected_gene': 'GC13P051260', 'score': 0.37}]
chr13 GH13I051257 51257208 51257813 0.43 [{'connected_gene': 'FAM124A', 'score': 19.07}, {'connected_gene': 'UTP14C', 'score': 4.91}, {'connected_gene': 'GC13P051260', 'score': 0.77}, {'connected_gene': 'GC13P051237', 'score': 0.34}]
chr13 GH13I051286 51286333 51286725 0.99 [{'connected_gene': 'FAM124A', 'score': 11.57}, {'connected_gene': 'CCDC70', 'score': 9.38}, {'connected_gene': 'GC13P051260', 'score': 0.31}, {'connected_gene': 'SERPINE3', 'score': 0.25}]
chr13 GH13I051330 51330620 51331592 0.97 [{'connected_gene': 'FAM124A', 'score': 10.34}, {'connected_gene': 'DHRS12', 'score': 8.95}, {'connected_gene': 'ENSG00000231856', 'score': 8.95}, {'connected_gene': 'SERPINE3', 'score': 0.77}, {'connected_gene': 'GC13P051260', 'score': 0.19}]
chr13 GH13I051274 51274645 51277537 0.38 [{'connected_gene': 'FAM124A', 'score': 11.72}, {'connected_gene': 'DHRS12', 'score': 5.43}, {'connected_gene': 'WDFY2', 'score': 4.04}, {'connected_gene': 'GC13P051260', 'score': 0.37}, {'connected_gene': 'SERPINE3', 'score': 0.22}]
chr13 GH13I051233 51233412 51235221 0.31 [{'connected_gene': 'FAM124A', 'score': 10.92}, {'connected_gene': 'RNASEH2B', 'score': 4.28}, {'connected_gene': 'GC13P051237', 'score': 0.77}]
chr13 GH13I051291 51291060 51292107 0.49 [{'connected_gene': 'FAM124A', 'score': 11.1}, {'connected_gene': 'GC13P051260', 'score': 0.29}, {'connected_gene': 'SERPINE3', 'score': 0.26}]
chr13 GH13I051277 51277540 51282902 0.46 [{'connected_gene': 'FAM124A', 'score': 11.71}, {'connected_gene': 'GC13P051260', 'score': 0.37}, {'connected_gene': 'SERPINE3', 'score': 0.22}]
chr13 GH13I051325 51325085 51325274 0.2 [{'connected_gene': 'FAM124A', 'score': 11.08}, {'connected_gene': 'SERPINE3', 'score': 0.39}, {'connected_gene': 'GC13P051260', 'score': 0.21}]
chr13 GH13I051292 51292345 51292494 0.2 [{'connected_gene': 'FAM124A', 'score': 11.09}, {'connected_gene': 'GC13P051260', 'score': 0.29}, {'connected_gene': 'SERPINE3', 'score': 0.26}]
chr13 GH13I051266 51266219 51267026 0.2 [{'connected_gene': 'FAM124A', 'score': 11.51}, {'connected_gene': 'GC13P051260', 'score': 0.44}, {'connected_gene': 'SERPINE3', 'score': 0.2}]
chr13 GH13I051269 51269145 51269374 0.4 [{'connected_gene': 'FAM124A', 'score': 11.29}, {'connected_gene': 'GC13P051260', 'score': 0.44}, {'connected_gene': 'SERPINE3', 'score': 0.2}]
chr13 GH13I051283 51283780 51285777 0.38 [{'connected_gene': 'FAM124A', 'score': 11.28}, {'connected_gene': 'GC13P051260', 'score': 0.34}, {'connected_gene': 'SERPINE3', 'score': 0.23}]
chr13 GH13I051301 51301203 51305828 0.79 [{'connected_gene': 'FAM124A', 'score': 10.69}, {'connected_gene': 'SERPINE3', 'score': 0.29}, {'connected_gene': 'GC13P051260', 'score': 0.26}]
chr13 GH13I051270 51269584 51274477 0.31 [{'connected_gene': 'FAM124A', 'score': 11.74}, {'connected_gene': 'GC13P051260', 'score': 0.39}, {'connected_gene': 'SERPINE3', 'score': 0.21}]
chr13 GH13I051328 51328467 51328773 0.42 [{'connected_gene': 'FAM124A', 'score': 10.04}, {'connected_gene': 'SERPINE3', 'score': 0.44}, {'connected_gene': 'GC13P051260', 'score': 0.2}]
chr13 GH13I051263 51263077 51263665 0.52 [{'connected_gene': 'FAM124A', 'score': 11.32}, {'connected_gene': 'GC13P051260', 'score': 0.77}, {'connected_gene': 'SERPINE3', 'score': 0.19}]
chr13 GH13I051267 51267473 51269114 0.38 [{'connected_gene': 'FAM124A', 'score': 15.77}, {'connected_gene': 'GC13P051260', 'score': 0.44}, {'connected_gene': 'SERPINE3', 'score': 0.2}]
chr13 GH13I051323 51323287 51323451 0.22 [{'connected_gene': 'FAM124A', 'score': 11.08}, {'connected_gene': 'SERPINE3', 'score': 0.39}, {'connected_gene': 'GC13P051260', 'score': 0.21}]
chr13 GH13I051316 51316844 51318247 0.38 [{'connected_gene': 'FAM124A', 'score': 11.15}, {'connected_gene': 'SERPINE3', 'score': 0.37}, {'connected_gene': 'GC13P051260', 'score': 0.22}]
chr13 GH13I051158 51158404 51159463 0.31 [{'connected_gene': 'FAM124A', 'score': 11.05}, {'connected_gene': 'C13orf42', 'score': 4.47}, {'connected_gene': 'RPL5P31', 'score': 0.77}, {'connected_gene': 'PIR49595', 'score': 0.25}]
chr13 GH13I051247 51246337 51247147 0.51 [{'connected_gene': 'FAM124A', 'score': 12.55}, {'connected_gene': 'ALG11', 'score': 4.69}, {'connected_gene': 'GC13P051237', 'score': 0.44}, {'connected_gene': 'GC13P051260', 'score': 0.39}]
chr13 GH13I051156 51156225 51156374 0.2 [{'connected_gene': 'FAM124A', 'score': 11.05}, {'connected_gene': 'RPL5P31', 'score': 0.44}, {'connected_gene': 'PIR49595', 'score': 0.26}, {'connected_gene': 'C13orf42', 'score': 0.26}]
chr13 GH13I051125 51125845 51126014 0.69 [{'connected_gene': 'FAM124A', 'score': 11.21}, {'connected_gene': 'PIR49595', 'score': 0.39}, {'connected_gene': 'RPL5P31', 'score': 0.28}, {'connected_gene': 'C13orf42', 'score': 0.19}]
chr13 GH13I051153 51153645 51154897 0.87 [{'connected_gene': 'FAM124A', 'score': 11.05}, {'connected_gene': 'GUCY1B2', 'score': 4.61}, {'connected_gene': 'RPL5P31', 'score': 0.44}, {'connected_gene': 'PIR49595', 'score': 0.26}, {'connected_gene': 'C13orf42', 'score': 0.25}]
chr13 GH13I051225 51225981 51226014 0.54 [{'connected_gene': 'FAM124A', 'score': 23.86}, {'connected_gene': 'DLEU7', 'score': 2.87}, {'connected_gene': 'GC13P051237', 'score': 0.39}]
chr13 GH13I051147 51147753 51150344 0.64 [{'connected_gene': 'FAM124A', 'score': 10.88}, {'connected_gene': 'RNASEH2B-AS1', 'score': 4.59}, {'connected_gene': 'RPL5P31', 'score': 0.39}, {'connected_gene': 'PIR49595', 'score': 0.28}, {'connected_gene': 'C13orf42', 'score': 0.23}]
chr13 GH13I051146 51146851 51147674 0.2 [{'connected_gene': 'FAM124A', 'score': 10.8}, {'connected_gene': 'RNASEH2B-AS1', 'score': 4.75}, {'connected_gene': 'RPL5P31', 'score': 0.37}, {'connected_gene': 'PIR49595', 'score': 0.29}, {'connected_gene': 'C13orf42', 'score': 0.23}]
chr13 GH13I051255 51255665 51255814 0.63 [{'connected_gene': 'FAM124A', 'score': 17.03}, {'connected_gene': 'GC13P051260', 'score': 0.44}, {'connected_gene': 'GC13P051237', 'score': 0.37}]
chr13 GH13I051251 51251771 51252698 0.2 [{'connected_gene': 'FAM124A', 'score': 12.52}, {'connected_gene': 'GC13P051260', 'score': 0.44}, {'connected_gene': 'GC13P051237', 'score': 0.37}]
chr13 GH13I051243 51243013 51245717 0.77 [{'connected_gene': 'FAM124A', 'score': 18.32}, {'connected_gene': 'GC13P051237', 'score': 0.44}, {'connected_gene': 'GC13P051260', 'score': 0.37}]
chr13 GH13I051246 51246105 51246254 0.58 [{'connected_gene': 'FAM124A', 'score': 17.91}, {'connected_gene': 'GC13P051237', 'score': 0.44}, {'connected_gene': 'GC13P051260', 'score': 0.39}]
chr13 GH13I051242 51242401 51242600 0.4 [{'connected_gene': 'FAM124A', 'score': 4.95}, {'connected_gene': 'GC13P051237', 'score': 0.44}, {'connected_gene': 'GC13P051260', 'score': 0.37}]
chr13 GH13I051230 51230105 51231509 0.78 [{'connected_gene': 'FAM124A', 'score': 0.44}, {'connected_gene': 'GC13P051237', 'score': 0.44}]
chr13 GH13I051224 51224321 51225306 0.49 [{'connected_gene': 'FAM124A', 'score': 9.52}, {'connected_gene': 'GC13P051237', 'score': 0.39}]
chr13 GH13I051221 51221801 51223739 2.06 [{'connected_gene': 'FAM124A', 'score': 559.31}, {'connected_gene': 'GC13P051237', 'score': 0.39}]
chr13 GH13I051228 51228141 51229932 0.2 [{'connected_gene': 'FAM124A', 'score': 0.44}, {'connected_gene': 'GC13P051237', 'score': 0.44}]
chr13 GH13I051364 51364026 51365227 0.31 [{'connected_gene': 'GC13M051362', 'score': 550.77}, {'connected_gene': 'SERPINE3', 'score': 12.54}, {'connected_gene': 'FAM124A', 'score': 10.05}, {'connected_gene': 'INTS6', 'score': 0.17}, {'connected_gene': 'INTS6-AS1', 'score': 0.17}]
chr13 GH13I051259 51259359 51259922 0.31 [{'connected_gene': 'GC13P051260', 'score': 550.77}, {'connected_gene': 'FAM124A', 'score': 18.4}, {'connected_gene': 'UTP14C', 'score': 4.5}, {'connected_gene': 'GC13P051237', 'score': 0.34}]
chr13 GH13I051260 51260799 51262330 0.38 [{'connected_gene': 'GC13P051260', 'score': 550.77}, {'connected_gene': 'FAM124A', 'score': 16.76}, {'connected_gene': 'SERPINE3', 'score': 14.21}, {'connected_gene': 'ALG11', 'score': 12.4}, {'connected_gene': 'RPS4XP16', 'score': 12.03}]
chr13 GH13I051262 51262805 51262954 0.69 [{'connected_gene': 'GC13P051260', 'score': 550.77}, {'connected_gene': 'FAM124A', 'score': 12.1}, {'connected_gene': 'SERPINE3', 'score': 0.19}]
chr13 GH13I051179 51179972 51180754 0.38 [{'connected_gene': 'ENSG00000274652', 'score': 550.77}, {'connected_gene': 'FAM124A', 'score': 11.26}, {'connected_gene': 'GC13P051177', 'score': 0.77}, {'connected_gene': 'C13orf42', 'score': 0.37}, {'connected_gene': 'PRELID3BP2', 'score': 0.37}]
chr13 GH13I051178 51178236 51178978 0.31 [{'connected_gene': 'GC13P051177', 'score': 550.77}, {'connected_gene': 'ENSG00000274652', 'score': 550.77}, {'connected_gene': 'FAM124A', 'score': 11.26}, {'connected_gene': 'C13orf42', 'score': 0.34}]
chr13 GH13I051180 51180985 51181134 0.31 [{'connected_gene': 'ENSG00000274652', 'score': 550.77}, {'connected_gene': 'FAM124A', 'score': 16.55}, {'connected_gene': 'GC13P051177', 'score': 0.77}, {'connected_gene': 'PRELID3BP2', 'score': 0.39}, {'connected_gene': 'C13orf42', 'score': 0.37}]
chr13 GH13I051237 51237077 51238608 0.2 [{'connected_gene': 'GC13P051237', 'score': 550.77}, {'connected_gene': 'FAM124A', 'score': 12.2}, {'connected_gene': 'GC13P051260', 'score': 0.34}]
chr13 GH13I051261 51259185 51259334 0.58 [{'connected_gene': 'GC13P051260', 'score': 550.77}, {'connected_gene': 'FAM124A', 'score': 12.11}, {'connected_gene': 'GC13P051237', 'score': 0.34}]
chr13 GH13I051235 51235845 51236149 0.58 [{'connected_gene': 'GC13P051237', 'score': 550.77}, {'connected_gene': 'FAM124A', 'score': 0.39}]
chr13 GH13I051240 51240758 51241490 0.31 [{'connected_gene': 'GC13P051237', 'score': 0.77}, {'connected_gene': 'FAM124A', 'score': 0.37}, {'connected_gene': 'GC13P051260', 'score': 0.37}]

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