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
ENST00000375751 [[93564068, 93564175], [93606139, 93606597], [93607715, 93607876], [93624487, 93624626], [93626870, 93626949], [93627329, 93627379], [93636485, 93636573], [93636953, 93637131], [93639852, 93640062], [93641045, 93641235], [93650030, 93650171], [93650796, 93650909], [93657809, 93660831]] [[93606180, 93606597], [93607715, 93607876], [93624487, 93624626], [93626870, 93626949], [93627329, 93627379], [93636485, 93636573], [93636953, 93637131], [93639852, 93640062], [93641045, 93641235], [93650030, 93650171], [93650796, 93650909], [93657809, 93657882]]
ENST00000375754 [[93564068, 93564175], [93606139, 93606597], [93607715, 93607876], [93624487, 93624626], [93626870, 93626949], [93627329, 93627379], [93629412, 93629481], [93636485, 93636573], [93636953, 93637131], [93639852, 93640062], [93641045, 93641235], [93650030, 93650171], [93650796, 93650909], [93657809, 93660831]] [[93606180, 93606597], [93607715, 93607876], [93624487, 93624626], [93626870, 93626949], [93627329, 93627379], [93629412, 93629481], [93636485, 93636573], [93636953, 93637131], [93639852, 93640062], [93641045, 93641235], [93650030, 93650171], [93650796, 93650909], [93657809, 93657882]]
ENST00000375747 [[93564208, 93564287], [93606139, 93606597], [93607715, 93607876], [93624487, 93624626], [93626870, 93626949], [93627329, 93627379], [93636485, 93636573], [93636953, 93637131], [93639852, 93640062], [93641045, 93641235], [93650030, 93650171], [93650796, 93650909], [93657809, 93660831]] [[93606180, 93606597], [93607715, 93607876], [93624487, 93624626], [93626870, 93626949], [93627329, 93627379], [93636485, 93636573], [93636953, 93637131], [93639852, 93640062], [93641045, 93641235], [93650030, 93650171], [93650796, 93650909], [93657809, 93657882]]
ENST00000476708 [[93564243, 93564321], [93606139, 93606528]] None
ENST00000375746 [[93589769, 93589861], [93606139, 93606597], [93607715, 93607876], [93624487, 93624626], [93626870, 93626949], [93627329, 93627379], [93629412, 93629481], [93636485, 93636573], [93636953, 93637131], [93639852, 93640062], [93641045, 93641235], [93650030, 93650171], [93650796, 93650909], [93657809, 93660831]] [[93606180, 93606597], [93607715, 93607876], [93624487, 93624626], [93626870, 93626949], [93627329, 93627379], [93629412, 93629481], [93636485, 93636573], [93636953, 93637131], [93639852, 93640062], [93641045, 93641235], [93650030, 93650171], [93650796, 93650909], [93657809, 93657882]]
NM_001135052 [[93563961, 93564175], [93606139, 93606597], [93607715, 93607876], [93624487, 93624626], [93626870, 93626949], [93627329, 93627379], [93636485, 93636573], [93636953, 93637131], [93639852, 93640062], [93641045, 93641235], [93650030, 93650171], [93650796, 93650909], [93657809, 93660842]] [[93606180, 93606597], [93607715, 93607876], [93624487, 93624626], [93626870, 93626949], [93627329, 93627379], [93636485, 93636573], [93636953, 93637131], [93639852, 93640062], [93641045, 93641235], [93650030, 93650171], [93650796, 93650909], [93657809, 93657882]]
NM_003177 [[93563961, 93564175], [93606139, 93606597], [93607715, 93607876], [93624487, 93624626], [93626870, 93626949], [93627329, 93627379], [93629412, 93629481], [93636485, 93636573], [93636953, 93637131], [93639852, 93640062], [93641045, 93641235], [93650030, 93650171], [93650796, 93650909], [93657809, 93660842]] [[93606180, 93606597], [93607715, 93607876], [93624487, 93624626], [93626870, 93626949], [93627329, 93627379], [93629412, 93629481], [93636485, 93636573], [93636953, 93637131], [93639852, 93640062], [93641045, 93641235], [93650030, 93650171], [93650796, 93650909], [93657809, 93657882]]
NM_001174168 [[93564208, 93564287], [93606139, 93606597], [93607715, 93607876], [93624487, 93624626], [93626870, 93626949], [93627329, 93627379], [93636485, 93636573], [93636953, 93637131], [93639852, 93640062], [93641045, 93641235], [93650030, 93650171], [93650796, 93650909], [93657809, 93660842]] [[93606180, 93606597], [93607715, 93607876], [93624487, 93624626], [93626870, 93626949], [93627329, 93627379], [93636485, 93636573], [93636953, 93637131], [93639852, 93640062], [93641045, 93641235], [93650030, 93650171], [93650796, 93650909], [93657809, 93657882]]
NM_001174167 [[93589701, 93589861], [93606139, 93606597], [93607715, 93607876], [93624487, 93624626], [93626870, 93626949], [93627329, 93627379], [93629412, 93629481], [93636485, 93636573], [93636953, 93637131], [93639852, 93640062], [93641045, 93641235], [93650030, 93650171], [93650796, 93650909], [93657809, 93660842]] [[93606180, 93606597], [93607715, 93607876], [93624487, 93624626], [93626870, 93626949], [93627329, 93627379], [93629412, 93629481], [93636485, 93636573], [93636953, 93637131], [93639852, 93640062], [93641045, 93641235], [93650030, 93650171], [93650796, 93650909], [93657809, 93657882]]
Promoter
Chrom Start End Description
chr9 93563876 93563886 CAGE_peak_6_at_SYK_5end
chr9 93563891 93563900 CAGE_peak_9_at_SYK_5end
chr9 93564039 93564107 CAGE_peak_1_at_SYK_5end
chr9 93564153 93564160 CAGE_peak_7_at_SYK_5end
chr9 93564191 93564231 CAGE_peak_3_at_SYK_5end
chr9 93564254 93564264 CAGE_peak_5_at_SYK_5end
chr9 93589662 93589730 CAGE_peak_2_at_SYK_5end
chr9 93589734 93589747 CAGE_peak_10_at_SYK_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I090755 90755800 90756200 0.89 [{'connected_gene': 'SYK', 'score': 13.6}, {'connected_gene': 'OR7E108P', 'score': 0.77}, {'connected_gene': 'GC09P090934', 'score': 0.44}]
chr9 GH09I091059 91059469 91062645 1.65 [{'connected_gene': 'SYK', 'score': 5.86}, {'connected_gene': 'ENSG00000228216', 'score': 4.58}, {'connected_gene': 'NFIL3', 'score': 3.15}, {'connected_gene': 'GC09M091073', 'score': 0.39}, {'connected_gene': 'LOC105376144', 'score': 0.21}]
chr9 GH09I090769 90769547 90771020 0.6 [{'connected_gene': 'SYK', 'score': 29.82}, {'connected_gene': 'NFIL3', 'score': 4.44}, {'connected_gene': 'GC09P090934', 'score': 0.77}]
chr9 GH09I089987 89987864 89990242 0.6 [{'connected_gene': 'SYK', 'score': 4.24}, {'connected_gene': 'GC09M089956', 'score': 0.39}, {'connected_gene': 'MIR4290', 'score': 0.29}]
chr9 GH09I090831 90831799 90833227 0.4 [{'connected_gene': 'SYK', 'score': 20.48}, {'connected_gene': 'PIR33467', 'score': 0.37}, {'connected_gene': 'GC09M090810', 'score': 0.34}, {'connected_gene': 'GC09P090934', 'score': 0.2}]
chr9 GH09I090808 90808182 90810638 0.86 [{'connected_gene': 'SYK', 'score': 47.62}, {'connected_gene': 'GC09M090810', 'score': 0.77}, {'connected_gene': 'GC09P090934', 'score': 0.26}]
chr9 GH09I090802 90800909 90806570 2.1 [{'connected_gene': 'SYK', 'score': 596.01}, {'connected_gene': 'GC09M090810', 'score': 0.44}, {'connected_gene': 'GC09P090934', 'score': 0.28}]
chr9 GH09I090842 90842658 90843702 0.8 [{'connected_gene': 'SYK', 'score': 6.61}, {'connected_gene': 'PIR33467', 'score': 0.77}, {'connected_gene': 'GC09M090810', 'score': 0.29}]
chr9 GH09I090870 90870721 90870769 0.53 [{'connected_gene': 'SYK', 'score': 5.95}, {'connected_gene': 'PIR33467', 'score': 0.34}, {'connected_gene': 'GC09P090926', 'score': 0.23}]
chr9 GH09I090840 90840045 90840425 0.42 [{'connected_gene': 'SYK', 'score': 1.81}, {'connected_gene': 'PIR33467', 'score': 0.44}, {'connected_gene': 'GC09M090810', 'score': 0.31}]
chr9 GH09I090807 90807001 90807800 0.4 [{'connected_gene': 'SYK', 'score': 47.79}, {'connected_gene': 'GC09M090810', 'score': 0.77}, {'connected_gene': 'GC09P090934', 'score': 0.26}]
chr9 GH09I090822 90822979 90823108 0.4 [{'connected_gene': 'SYK', 'score': 12.6}, {'connected_gene': 'GC09M090810', 'score': 0.39}, {'connected_gene': 'PIR33467', 'score': 0.31}, {'connected_gene': 'GC09P090934', 'score': 0.22}]
chr9 GH09I090825 90825735 90831565 1.65 [{'connected_gene': 'SYK', 'score': 578.15}, {'connected_gene': 'GC09M090810', 'score': 0.37}, {'connected_gene': 'PIR33467', 'score': 0.37}, {'connected_gene': 'GC09P090934', 'score': 0.21}]
chr9 GH09I090879 90879411 90881602 0.2 [{'connected_gene': 'SYK', 'score': 4.64}, {'connected_gene': 'PIR33467', 'score': 0.29}, {'connected_gene': 'GC09P090926', 'score': 0.26}]
chr9 GH09I090814 90814213 90816624 1.44 [{'connected_gene': 'SYK', 'score': 25.12}, {'connected_gene': 'GC09M090810', 'score': 0.77}, {'connected_gene': 'PIR33467', 'score': 0.29}, {'connected_gene': 'GC09P090934', 'score': 0.23}]
chr9 GH09I090800 90800639 90800748 0.51 [{'connected_gene': 'SYK', 'score': 568.98}, {'connected_gene': 'GC09P090934', 'score': 0.28}]
chr9 GH09I090801 90800139 90800293 0.74 [{'connected_gene': 'SYK', 'score': 550.77}, {'connected_gene': 'GC09P090934', 'score': 0.29}]
chr9 GH09I090783 90783275 90784288 0.43 [{'connected_gene': 'SYK', 'score': 5.83}, {'connected_gene': 'GC09P090934', 'score': 0.37}]
chr9 GH09I090793 90793779 90793888 0.88 [{'connected_gene': 'SYK', 'score': 0.44}, {'connected_gene': 'GC09P090934', 'score': 0.31}]
chr9 GH09I090794 90794259 90797000 1.32 [{'connected_gene': 'SYK', 'score': 24.83}, {'connected_gene': 'GC09P090934', 'score': 0.29}]
chr9 GH09I090774 90774779 90774928 0.68 [{'connected_gene': 'SYK', 'score': 12.22}, {'connected_gene': 'GC09P090934', 'score': 0.44}]
chr9 GH09I091795 91795577 91799956 1.21 [{'connected_gene': 'ROR2', 'score': 16.2}, {'connected_gene': 'SYK', 'score': 4.71}, {'connected_gene': 'LOC101927935', 'score': 0.22}, {'connected_gene': 'GC09P091736', 'score': 0.21}]
chr9 GH09I091098 91098628 91102487 1.48 [{'connected_gene': 'NFIL3', 'score': 12.85}, {'connected_gene': 'LOC105376146', 'score': 10.62}, {'connected_gene': 'ENSG00000229694', 'score': 5.62}, {'connected_gene': 'SYK', 'score': 2.33}, {'connected_gene': 'LINC00484', 'score': 0.37}, {'connected_gene': 'LOC100129316', 'score': 0.31}]
chr9 GH09I091191 91191030 91200201 1.87 [{'connected_gene': 'NFIL3', 'score': 18.75}, {'connected_gene': 'LINC00484', 'score': 11.35}, {'connected_gene': 'LOC105376146', 'score': 11.08}, {'connected_gene': 'LINC00475', 'score': 10.64}, {'connected_gene': 'MTND4P15', 'score': 10.4}, {'connected_gene': 'SYK', 'score': 7.46}, {'connected_gene': 'ENSG00000273381', 'score': 6.62}, {'connected_gene': 'LOC100507103', 'score': 6.24}, {'connected_gene': 'ENSG00000230147', 'score': 0.31}]
chr9 GH09I091186 91186307 91188728 1.27 [{'connected_gene': 'LINC00484', 'score': 12.13}, {'connected_gene': 'ENSG00000229694', 'score': 6.1}, {'connected_gene': 'NFIL3', 'score': 5.31}, {'connected_gene': 'SYK', 'score': 4.19}, {'connected_gene': 'ENSG00000230147', 'score': 0.37}, {'connected_gene': 'ENSG00000273381', 'score': 0.34}]
chr9 GH09I091150 91150067 91153000 1.49 [{'connected_gene': 'LINC00484', 'score': 12.66}, {'connected_gene': 'LOC100507103', 'score': 7.15}, {'connected_gene': 'SYK', 'score': 5.48}, {'connected_gene': 'NFIL3', 'score': 3.0}, {'connected_gene': 'ENSG00000237422', 'score': 0.39}, {'connected_gene': 'ENSG00000229694', 'score': 0.29}]
chr9 GH09I091146 91146973 91148400 1.5 [{'connected_gene': 'LINC00484', 'score': 12.54}, {'connected_gene': 'ENSG00000229694', 'score': 10.64}, {'connected_gene': 'LOC100507103', 'score': 9.11}, {'connected_gene': 'SYK', 'score': 4.9}, {'connected_gene': 'NFIL3', 'score': 3.1}, {'connected_gene': 'ENSG00000237422', 'score': 0.37}]
chr9 GH09I091147 91146590 91146906 0.63 [{'connected_gene': 'ENSG00000229694', 'score': 13.42}, {'connected_gene': 'SYK', 'score': 3.61}, {'connected_gene': 'NFIL3', 'score': 1.99}, {'connected_gene': 'ENSG00000237422', 'score': 0.37}, {'connected_gene': 'LOC100507103', 'score': 0.37}, {'connected_gene': 'LINC00484', 'score': 0.31}]
chr9 GH09I090845 90845151 90849950 0.2 [{'connected_gene': 'PIR33467', 'score': 550.77}, {'connected_gene': 'SYK', 'score': 8.16}, {'connected_gene': 'LINC00484', 'score': 4.82}, {'connected_gene': 'GC09M090810', 'score': 0.28}]
chr9 GH09I090811 90811892 90812851 0.2 [{'connected_gene': 'GC09M090810', 'score': 550.77}, {'connected_gene': 'SYK', 'score': 25.45}, {'connected_gene': 'PIR33467', 'score': 0.28}, {'connected_gene': 'GC09P090934', 'score': 0.25}]
chr9 GH09I090813 90813047 90813578 0.2 [{'connected_gene': 'GC09M090810', 'score': 550.77}, {'connected_gene': 'SYK', 'score': 25.64}, {'connected_gene': 'PIR33467', 'score': 0.29}, {'connected_gene': 'GC09P090934', 'score': 0.25}]
chr9 GH09I090890 90890193 90890921 0.31 [{'connected_gene': 'GC09P090926', 'score': 0.29}, {'connected_gene': 'PIR33467', 'score': 0.26}, {'connected_gene': 'SYK', 'score': 0.17}]
chr9 GH09I090766 90766899 90767048 0.2 [{'connected_gene': 'GC09P090934', 'score': 550.77}, {'connected_gene': 'SYK', 'score': 0.29}]
chr9 GH09I090767 90767119 90767268 0.2 [{'connected_gene': 'GC09P090934', 'score': 550.77}, {'connected_gene': 'SYK', 'score': 0.29}]
chr9 GH09I090871 90871119 90871288 0.77 [{'connected_gene': 'PIR33467', 'score': 0.34}, {'connected_gene': 'GC09P090926', 'score': 0.23}, {'connected_gene': 'SYK', 'score': 0.2}]
chr9 GH09I090860 90860919 90861068 0.66 [{'connected_gene': 'PIR33467', 'score': 0.39}, {'connected_gene': 'SYK', 'score': 0.22}, {'connected_gene': 'GC09P090926', 'score': 0.21}]
chr9 GH09I090891 90891236 90895513 0.49 [{'connected_gene': 'GC09P090926', 'score': 0.29}, {'connected_gene': 'PIR33467', 'score': 0.25}, {'connected_gene': 'SYK', 'score': 0.16}]
chr9 GH09I090878 90878699 90878828 0.84 [{'connected_gene': 'PIR33467', 'score': 0.29}, {'connected_gene': 'GC09P090926', 'score': 0.25}, {'connected_gene': 'SYK', 'score': 0.18}]
chr9 GH09I090850 90850711 90851864 0.43 [{'connected_gene': 'PIR33467', 'score': 0.77}, {'connected_gene': 'SYK', 'score': 0.25}, {'connected_gene': 'GC09P090926', 'score': 0.19}]
chr9 GH09I090851 90851941 90853361 0.2 [{'connected_gene': 'PIR33467', 'score': 0.77}, {'connected_gene': 'SYK', 'score': 0.23}, {'connected_gene': 'GC09P090926', 'score': 0.19}]
chr9 GH09I090839 90839299 90839448 0.58 [{'connected_gene': 'PIR33467', 'score': 0.44}, {'connected_gene': 'GC09M090810', 'score': 0.31}, {'connected_gene': 'SYK', 'score': 0.28}]
chr9 GH09I090881 90881705 90884388 0.49 [{'connected_gene': 'PIR33467', 'score': 0.29}, {'connected_gene': 'GC09P090926', 'score': 0.26}, {'connected_gene': 'SYK', 'score': 0.18}]

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