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
ENST00000556826 [[58030639, 58031094], [58033192, 58033282], [58036505, 58036698], [58038611, 58038737], [58047931, 58048151], [58055933, 58056231], [58060656, 58060842], [58332440, 58332780]] [[58030852, 58031094], [58033192, 58033282], [58036505, 58036698], [58038611, 58038737], [58047931, 58048151], [58055933, 58056231], [58060656, 58060842], [58332440, 58332543]]
ENST00000557430 [[58060762, 58060842], [58069115, 58069261], [58070760, 58070973], [58266129, 58266225]] None
ENST00000556568 [[58070725, 58070973], [58448630, 58448912]] None
ENST00000339762 [[58030639, 58031094], [58033192, 58033282], [58036505, 58036698], [58038611, 58038737], [58047931, 58048151], [58055933, 58056231], [58060656, 58060842], [58063404, 58063615]] [[58030852, 58031094], [58033192, 58033282], [58036505, 58036698], [58038611, 58038737], [58047931, 58048151], [58055933, 58056231], [58060656, 58060842], [58063404, 58063615]]
ENST00000554729 [[58030695, 58031094], [58033192, 58033282], [58036505, 58036698], [58038611, 58038737], [58047931, 58048151], [58055933, 58056228], [58060656, 58060842], [58063516, 58063615]] [[58030852, 58031094], [58033192, 58033282], [58036505, 58036698], [58038611, 58038737], [58047931, 58048151], [58055933, 58056151]]
ENST00000557254 [[58030856, 58031094], [58033192, 58033282], [58036505, 58036698], [58038611, 58038733], [58046143, 58046232], [58047156, 58047257], [58047931, 58048151], [58055933, 58056231], [58060656, 58060842], [58062452, 58063615]] [[58047239, 58047257], [58047931, 58048151], [58055933, 58056151]]
ENST00000556306 [[58036580, 58036698], [58038611, 58038737], [58047156, 58047257], [58047931, 58048053]] [[58047239, 58047257], [58047931, 58048053]]
ENST00000554648 [[58443468, 58443675], [58448630, 58448781]] None
NM_001306087 [[58030639, 58031094], [58033192, 58033282], [58036505, 58036698], [58038611, 58038737], [58047931, 58048151], [58055933, 58056231], [58060656, 58060842], [58332440, 58332592]] [[58030852, 58031094], [58033192, 58033282], [58036505, 58036698], [58038611, 58038737], [58047931, 58048151], [58055933, 58056231], [58060656, 58060842], [58332440, 58332543]]
NM_001206920 [[58030639, 58031094], [58033192, 58033282], [58036505, 58036698], [58038611, 58038737], [58047931, 58048151], [58055933, 58056228], [58060656, 58060842], [58332440, 58332592]] [[58030852, 58031094], [58033192, 58033282], [58036505, 58036698], [58038611, 58038737], [58047931, 58048151], [58055933, 58056228], [58060656, 58060842], [58332440, 58332543]]
Promoter
Chrom Start End Description
chr14 58332635 58332653 CAGE_peak_2_at_SLC35F4_5end
chr14 58332663 58332678 CAGE_peak_3_at_SLC35F4_5end
chr14 58332762 58332773 CAGE_peak_5_at_SLC35F4_5end
chr14 58332774 58332786 CAGE_peak_4_at_SLC35F4_5end
chr14 58332793 58332817 CAGE_peak_1_at_SLC35F4_5end
chr14 58448696 58448733 CAGE_peak_9_at_SLC35F4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I058426 58426145 58429744 2.3 [{'connected_gene': 'KIAA0586', 'score': 578.89}, {'connected_gene': 'TIMM9', 'score': 572.6}, {'connected_gene': 'GC14M058423', 'score': 550.77}, {'connected_gene': 'PSMA3-AS1', 'score': 31.23}, {'connected_gene': 'ENSG00000259969', 'score': 29.5}, {'connected_gene': 'ENSG00000258682', 'score': 28.75}, {'connected_gene': 'HMGB1P14', 'score': 22.92}, {'connected_gene': 'SLC35F4', 'score': 11.28}, {'connected_gene': 'ARID4A', 'score': 10.77}, {'connected_gene': 'RPL31P4', 'score': 10.61}, {'connected_gene': 'HNRNPCP1', 'score': 10.05}, {'connected_gene': 'RPL9P5', 'score': 6.16}, {'connected_gene': 'GC14P058442', 'score': 0.39}, {'connected_gene': 'ENSG00000258378', 'score': 0.31}, {'connected_gene': 'GC14P058345', 'score': 0.18}]
chr14 GH14I058104 58104883 58105032 0.75 [{'connected_gene': 'TOMM20L', 'score': 20.1}, {'connected_gene': 'ENSG00000259969', 'score': 11.88}, {'connected_gene': 'SLC35F4', 'score': 11.36}, {'connected_gene': 'RPL31P4', 'score': 10.08}, {'connected_gene': 'LOC440181', 'score': 9.8}, {'connected_gene': 'GC14M058071', 'score': 0.77}, {'connected_gene': 'GC14P058110', 'score': 0.44}, {'connected_gene': 'C14orf37', 'score': 0.08}]
chr14 GH14I057977 57977319 57977579 0.22 [{'connected_gene': 'SLC35F4', 'score': 8.25}, {'connected_gene': 'ACTR10', 'score': 1.37}, {'connected_gene': 'C14orf37', 'score': 1.35}, {'connected_gene': 'GC14M057931', 'score': 0.39}]
chr14 GH14I057760 57760270 57760649 0.22 [{'connected_gene': 'SLC35F4', 'score': 13.62}, {'connected_gene': 'NAA30', 'score': 2.76}, {'connected_gene': 'ACTR10', 'score': 1.76}, {'connected_gene': 'EXOC5', 'score': 1.61}, {'connected_gene': 'C14orf37', 'score': 1.51}, {'connected_gene': 'RN7SKP99', 'score': 0.18}, {'connected_gene': 'GC14M057656', 'score': 0.18}]
chr14 GH14I057866 57866040 57866099 0.84 [{'connected_gene': 'SLC35F4', 'score': 550.13}, {'connected_gene': 'RN7SKP99', 'score': 0.31}, {'connected_gene': 'GC14M057931', 'score': 0.15}]
chr14 GH14I057833 57832964 57834207 0.96 [{'connected_gene': 'SLC35F4', 'score': 28.94}, {'connected_gene': 'RN7SKP99', 'score': 0.77}, {'connected_gene': 'GC14M057656', 'score': 0.1}]
chr14 GH14I057944 57944803 57945625 0.38 [{'connected_gene': 'SLC35F4', 'score': 4.89}, {'connected_gene': 'GC14M057931', 'score': 0.34}, {'connected_gene': 'RN7SKP99', 'score': 0.14}]
chr14 GH14I057822 57822346 57824680 0.31 [{'connected_gene': 'SLC35F4', 'score': 36.91}, {'connected_gene': 'RN7SKP99', 'score': 0.39}, {'connected_gene': 'GC14M057656', 'score': 0.11}]
chr14 GH14I057845 57845146 57848717 0.51 [{'connected_gene': 'SLC35F4', 'score': 14.31}, {'connected_gene': 'RN7SKP99', 'score': 0.44}, {'connected_gene': 'GC14M057931', 'score': 0.13}]
chr14 GH14I057871 57871623 57871772 0.57 [{'connected_gene': 'RN7SKP99', 'score': 0.29}, {'connected_gene': 'GC14M057931', 'score': 0.16}, {'connected_gene': 'SLC35F4', 'score': 0.14}]
chr14 GH14I057832 57832123 57832272 0.4 [{'connected_gene': 'RN7SKP99', 'score': 0.44}, {'connected_gene': 'GC14M057656', 'score': 0.1}, {'connected_gene': 'SLC35F4', 'score': 0.1}]
chr14 GH14I057865 57865483 57865572 0.72 [{'connected_gene': 'ENSG00000258682', 'score': 16.4}, {'connected_gene': 'PSMA3-AS1', 'score': 14.31}, {'connected_gene': 'ARID4A', 'score': 13.05}, {'connected_gene': 'HMGB1P14', 'score': 10.4}, {'connected_gene': 'RN7SKP99', 'score': 0.31}, {'connected_gene': 'GC14M057931', 'score': 0.15}, {'connected_gene': 'SLC35F4', 'score': 0.13}]
chr14 GH14I057961 57961903 57963428 0.38 [{'connected_gene': 'GC14M057931', 'score': 0.77}, {'connected_gene': 'SLC35F4', 'score': 0.37}, {'connected_gene': 'RN7SKP99', 'score': 0.13}]
chr14 GH14I057725 57725783 57725972 0.46 [{'connected_gene': 'GC14M057656', 'score': 0.25}, {'connected_gene': 'RN7SKP99', 'score': 0.14}, {'connected_gene': 'SLC35F4', 'score': 0.07}]
chr14 GH14I057749 57749192 57749588 0.22 [{'connected_gene': 'GC14M057656', 'score': 0.19}, {'connected_gene': 'RN7SKP99', 'score': 0.17}, {'connected_gene': 'SLC35F4', 'score': 0.07}]
chr14 GH14I057714 57714199 57714977 0.71 [{'connected_gene': 'GC14M057656', 'score': 0.28}, {'connected_gene': 'RN7SKP99', 'score': 0.13}, {'connected_gene': 'SLC35F4', 'score': 0.06}]