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
ENST00000375299 [[115047058, 115047321], [115047495, 115047602], [115048311, 115048418], [115051776, 115051875], [115051993, 115052104], [115056963, 115057019], [115057108, 115057267], [115064314, 115064475], [115067205, 115067500], [115070263, 115071283]] [[115047114, 115047321], [115047495, 115047602], [115048311, 115048418], [115051776, 115051875], [115051993, 115052104], [115056963, 115057019], [115057108, 115057267], [115064314, 115064475], [115067205, 115067500], [115070263, 115070392]]
ENST00000492270 [[115047077, 115047321], [115047495, 115047745]] None
ENST00000351487 [[115047102, 115047321], [115047495, 115047602], [115048311, 115048418], [115051993, 115052104], [115056963, 115057019], [115057108, 115057267], [115064314, 115064475], [115067205, 115067500], [115070263, 115071283]] [[115047114, 115047321], [115047495, 115047602], [115048311, 115048418], [115051993, 115052104], [115056963, 115057019], [115057108, 115057267], [115064314, 115064475], [115067205, 115067500], [115070263, 115070392]]
ENST00000484246 [[115047119, 115047321], [115048311, 115048418], [115051776, 115051875], [115051993, 115052104], [115056963, 115057019], [115057108, 115057232]] None
ENST00000480362 [[115047194, 115047321], [115047495, 115047602], [115048311, 115048418], [115051993, 115052104], [115056963, 115057019], [115057108, 115057267], [115067205, 115067342], [115070263, 115070424]] None
ENST00000474056 [[115047399, 115047602], [115048311, 115048418], [115056963, 115057019], [115057108, 115057267], [115064314, 115064475], [115067205, 115067267]] None
ENST00000493727 [[115047427, 115047602], [115048311, 115048418], [115051733, 115051875], [115051993, 115052104], [115056963, 115057019], [115057108, 115057267], [115064314, 115064475], [115067205, 115067231]] None
ENST00000481131 [[115051449, 115051875], [115051993, 115052104], [115056963, 115057019], [115057108, 115057193]] None
ENST00000479712 [[115051848, 115052104], [115056963, 115057019], [115057108, 115057219]] None
ENST00000475218 [[115051859, 115051875], [115051993, 115052104], [115057079, 115057267], [115064314, 115064475], [115067205, 115067500], [115070263, 115071283]] None
NM_080687 [[115047058, 115047321], [115047495, 115047602], [115048311, 115048418], [115051993, 115052104], [115056963, 115057019], [115057108, 115057267], [115064314, 115064475], [115067205, 115067500], [115070263, 115071292]] [[115047114, 115047321], [115047495, 115047602], [115048311, 115048418], [115051993, 115052104], [115056963, 115057019], [115057108, 115057267], [115064314, 115064475], [115067205, 115067500], [115070263, 115070392]]
NM_023011 [[115047058, 115047321], [115047495, 115047602], [115048311, 115048418], [115051776, 115051875], [115051993, 115052104], [115056963, 115057019], [115057108, 115057267], [115064314, 115064475], [115067205, 115067500], [115070263, 115071292]] [[115047114, 115047321], [115047495, 115047602], [115048311, 115048418], [115051776, 115051875], [115051993, 115052104], [115056963, 115057019], [115057108, 115057267], [115064314, 115064475], [115067205, 115067500], [115070263, 115070392]]
Promoter
Chrom Start End Description
chr13 115047053 115047095 CAGE_peak_1_at_UPF3A_5end
chr13 115047097 115047120 CAGE_peak_2_at_UPF3A_5end
chr13 115047145 115047157 CAGE_peak_9_at_UPF3A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I114294 114294979 114296487 0.89 [{'connected_gene': 'CDC16', 'score': 15.46}, {'connected_gene': 'UPF3A', 'score': 14.2}, {'connected_gene': 'LINC00452', 'score': 4.22}, {'connected_gene': 'CLCP2', 'score': 0.39}]
chr13 GH13I113774 113774328 113774477 0.57 [{'connected_gene': 'CDC16', 'score': 18.2}, {'connected_gene': 'UPF3A', 'score': 14.54}, {'connected_gene': 'TMEM255B', 'score': 0.37}, {'connected_gene': 'GAS6-AS1', 'score': 0.26}]
chr13 GH13I114259 114259619 114262007 0.63 [{'connected_gene': 'CDC16', 'score': 68.72}, {'connected_gene': 'UPF3A', 'score': 12.46}, {'connected_gene': 'CHAMP1', 'score': 12.0}, {'connected_gene': 'RASA3', 'score': 8.18}, {'connected_gene': 'MIR4502', 'score': 0.39}, {'connected_gene': 'MIR548AR', 'score': 0.37}, {'connected_gene': 'LOC105370384', 'score': 0.34}]
chr13 GH13I114237 114237346 114238376 0.81 [{'connected_gene': 'CDC16', 'score': 59.6}, {'connected_gene': 'UPF3A', 'score': 12.24}, {'connected_gene': 'CHAMP1', 'score': 10.67}, {'connected_gene': 'MIR548AR', 'score': 0.44}]
chr13 GH13I114157 114157860 114158943 0.2 [{'connected_gene': 'CDC16', 'score': 10.18}, {'connected_gene': 'UPF3A', 'score': 8.42}, {'connected_gene': 'LINC00565', 'score': 5.02}, {'connected_gene': 'PIR45361', 'score': 0.77}, {'connected_gene': 'RASA3', 'score': 0.31}]
chr13 GH13I114298 114298242 114300525 0.38 [{'connected_gene': 'CDC16', 'score': 17.55}, {'connected_gene': 'UPF3A', 'score': 14.51}, {'connected_gene': 'CLCP2', 'score': 0.44}]
chr13 GH13I114293 114293224 114294249 0.54 [{'connected_gene': 'CDC16', 'score': 17.57}, {'connected_gene': 'UPF3A', 'score': 0.39}, {'connected_gene': 'CLCP2', 'score': 0.39}]
chr13 GH13I114283 114283566 114283715 0.84 [{'connected_gene': 'CDC16', 'score': 6.28}, {'connected_gene': 'UPF3A', 'score': 0.77}, {'connected_gene': 'CLCP2', 'score': 0.34}]
chr13 GH13I114234 114234401 114236406 2.04 [{'connected_gene': 'CDC16', 'score': 625.69}, {'connected_gene': 'CHAMP1', 'score': 20.33}, {'connected_gene': 'UPF3A', 'score': 17.12}, {'connected_gene': 'MIR548AR', 'score': 0.44}]
chr13 GH13I114141 114141728 114145696 1.43 [{'connected_gene': 'CDC16', 'score': 23.95}, {'connected_gene': 'RASA3', 'score': 15.37}, {'connected_gene': 'UPF3A', 'score': 14.95}, {'connected_gene': 'PIR45361', 'score': 0.37}]
chr13 GH13I114229 114229405 114231282 0.9 [{'connected_gene': 'CDC16', 'score': 38.93}, {'connected_gene': 'RASA3', 'score': 8.26}, {'connected_gene': 'UPF3A', 'score': 6.62}, {'connected_gene': 'ENSG00000283347', 'score': 0.39}]
chr13 GH13I113362 113362592 113365229 1.88 [{'connected_gene': 'GRTP1', 'score': 596.23}, {'connected_gene': 'UPF3A', 'score': 11.57}, {'connected_gene': 'GRTP1-AS1', 'score': 6.69}, {'connected_gene': 'GC13M113076', 'score': 0.1}]
chr13 GH13I114318 114318078 114320653 1.13 [{'connected_gene': 'UPF3A', 'score': 17.93}, {'connected_gene': 'CDC16', 'score': 16.69}, {'connected_gene': 'CHAMP1', 'score': 0.77}, {'connected_gene': 'LINC01054', 'score': 0.39}]
chr13 GH13I114309 114309762 114312617 0.59 [{'connected_gene': 'UPF3A', 'score': 31.17}, {'connected_gene': 'CDC16', 'score': 23.55}, {'connected_gene': 'GC13P114307', 'score': 0.77}, {'connected_gene': 'CHAMP1', 'score': 0.77}]
chr13 GH13I113408 113408736 113412929 1.55 [{'connected_gene': 'UPF3A', 'score': 12.68}, {'connected_gene': 'CDC16', 'score': 11.19}, {'connected_gene': 'ADPRHL1', 'score': 8.51}, {'connected_gene': 'TUBGCP3', 'score': 4.76}, {'connected_gene': 'GRTP1', 'score': 4.68}, {'connected_gene': 'MCF2L', 'score': 1.75}, {'connected_gene': 'LOC101928841', 'score': 0.39}, {'connected_gene': 'PIR34234', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.14}]
chr13 GH13I114279 114279065 114283361 2.56 [{'connected_gene': 'UPF3A', 'score': 556.41}, {'connected_gene': 'LOC105370384', 'score': 550.77}, {'connected_gene': 'GC13P114279', 'score': 550.77}, {'connected_gene': 'CDC16', 'score': 74.35}, {'connected_gene': 'CHAMP1', 'score': 21.27}, {'connected_gene': 'RASA3', 'score': 6.2}]
chr13 GH13I114325 114325601 114326200 0.38 [{'connected_gene': 'UPF3A', 'score': 15.02}, {'connected_gene': 'LINC01054', 'score': 0.44}, {'connected_gene': 'CHAMP1', 'score': 0.39}]
chr13 GH13I114113 114113997 114117120 1.51 [{'connected_gene': 'UPF3A', 'score': 6.22}, {'connected_gene': 'PIR55533', 'score': 0.44}, {'connected_gene': 'RASA3-IT1', 'score': 0.44}, {'connected_gene': 'RASA3', 'score': 0.37}]
chr13 GH13I114286 114286241 114286533 0.4 [{'connected_gene': 'UPF3A', 'score': 0.77}, {'connected_gene': 'CLCP2', 'score': 0.34}]
chr13 GH13I114284 114284926 114286030 0.74 [{'connected_gene': 'UPF3A', 'score': 0.77}, {'connected_gene': 'CLCP2', 'score': 0.34}]
chr13 GH13I114303 114303986 114304907 0.38 [{'connected_gene': 'UPF3A', 'score': 18.25}, {'connected_gene': 'CLCP2', 'score': 0.77}]
chr13 GH13I113296 113296400 113298987 2.14 [{'connected_gene': 'LAMP1', 'score': 550.77}, {'connected_gene': 'CDC16', 'score': 76.98}, {'connected_gene': 'PCID2', 'score': 69.41}, {'connected_gene': 'TUBGCP3', 'score': 66.69}, {'connected_gene': 'UPF3A', 'score': 22.46}, {'connected_gene': 'GAS6-AS2', 'score': 12.64}, {'connected_gene': 'GAS6', 'score': 12.12}, {'connected_gene': 'CUL4A', 'score': 11.08}, {'connected_gene': 'GAS6-AS1', 'score': 10.6}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.05}, {'connected_gene': 'GC13P113323', 'score': 0.34}, {'connected_gene': 'PIR60275', 'score': 0.34}, {'connected_gene': 'GC13M113076', 'score': 0.07}]
chr13 GH13I113758 113758375 113760984 2.08 [{'connected_gene': 'TMEM255B', 'score': 596.18}, {'connected_gene': 'PIR45723', 'score': 550.77}, {'connected_gene': 'UPF3A', 'score': 4.56}, {'connected_gene': 'GAS6-AS1', 'score': 0.22}]
chr13 GH13I114312 114312817 114316240 2.47 [{'connected_gene': 'CHAMP1', 'score': 550.77}, {'connected_gene': 'UPF3A', 'score': 16.57}, {'connected_gene': 'CDC16', 'score': 13.68}, {'connected_gene': 'GAS6-AS1', 'score': 10.29}, {'connected_gene': 'LINC01054', 'score': 0.37}]
chr13 GH13I113859 113859151 113865108 2.58 [{'connected_gene': 'GAS6', 'score': 572.04}, {'connected_gene': 'CDC16', 'score': 28.74}, {'connected_gene': 'UPF3A', 'score': 11.37}, {'connected_gene': 'GAS6-AS1', 'score': 6.15}, {'connected_gene': 'TMEM255B', 'score': 4.75}, {'connected_gene': 'GAS6-AS2', 'score': 0.77}, {'connected_gene': 'LOC105370380', 'score': 0.26}]
chr13 GH13I114096 114096953 114103354 1.41 [{'connected_gene': 'RASA3', 'score': 24.34}, {'connected_gene': 'CDC16', 'score': 20.09}, {'connected_gene': 'UPF3A', 'score': 4.34}, {'connected_gene': 'PIR39138', 'score': 0.44}, {'connected_gene': 'PIR54358', 'score': 0.37}]
chr13 GH13I114031 114031347 114040086 1.11 [{'connected_gene': 'RASA3', 'score': 27.7}, {'connected_gene': 'CDC16', 'score': 11.53}, {'connected_gene': 'LINC00452', 'score': 8.74}, {'connected_gene': 'LINC00565', 'score': 6.58}, {'connected_gene': 'UPF3A', 'score': 6.45}, {'connected_gene': 'PIR37177', 'score': 0.25}, {'connected_gene': 'C13orf46', 'score': 0.21}]
chr13 GH13I114126 114126222 114133201 2.77 [{'connected_gene': 'RASA3', 'score': 565.2}, {'connected_gene': 'CDC16', 'score': 84.68}, {'connected_gene': 'PCID2', 'score': 48.98}, {'connected_gene': 'CHAMP1', 'score': 27.22}, {'connected_gene': 'GAS6', 'score': 20.35}, {'connected_gene': 'UPF3A', 'score': 18.33}, {'connected_gene': 'GAS6-AS1', 'score': 10.62}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.27}, {'connected_gene': 'LINC00565', 'score': 5.5}, {'connected_gene': 'PIR55533', 'score': 0.44}]
chr13 GH13I114062 114062519 114069799 1.78 [{'connected_gene': 'RASA3', 'score': 17.62}, {'connected_gene': 'UPF3A', 'score': 15.81}, {'connected_gene': 'CDC16', 'score': 13.71}, {'connected_gene': 'LINC00452', 'score': 8.66}, {'connected_gene': 'LINC00565', 'score': 4.34}, {'connected_gene': 'PIR37177', 'score': 0.37}, {'connected_gene': 'C13orf46', 'score': 0.16}]
chr13 GH13I114048 114048251 114049758 1.32 [{'connected_gene': 'RASA3', 'score': 14.49}, {'connected_gene': 'UPF3A', 'score': 6.32}, {'connected_gene': 'LINC00565', 'score': 4.38}, {'connected_gene': 'PIR37177', 'score': 0.29}, {'connected_gene': 'C13orf46', 'score': 0.19}]
chr13 GH13I113980 113980692 113981971 0.96 [{'connected_gene': 'RASA3', 'score': 27.74}, {'connected_gene': 'UPF3A', 'score': 5.64}, {'connected_gene': 'C13orf46', 'score': 0.44}, {'connected_gene': 'PIR37177', 'score': 0.15}]
chr13 GH13I114046 114046716 114048085 0.88 [{'connected_gene': 'RASA3', 'score': 14.23}, {'connected_gene': 'UPF3A', 'score': 6.31}, {'connected_gene': 'PIR37177', 'score': 0.29}, {'connected_gene': 'C13orf46', 'score': 0.19}]
chr13 GH13I114072 114072216 114073223 0.31 [{'connected_gene': 'RASA3', 'score': 12.35}, {'connected_gene': 'UPF3A', 'score': 6.87}, {'connected_gene': 'PIR37177', 'score': 0.44}, {'connected_gene': 'C13orf46', 'score': 0.15}]
chr13 GH13I113990 113990459 113992076 0.76 [{'connected_gene': 'RASA3', 'score': 27.85}, {'connected_gene': 'LINC00452', 'score': 8.33}, {'connected_gene': 'UPF3A', 'score': 6.41}, {'connected_gene': 'LINC00565', 'score': 4.5}, {'connected_gene': 'C13orf46', 'score': 0.37}, {'connected_gene': 'PIR37177', 'score': 0.16}]
chr13 GH13I114042 114042505 114044001 1.3 [{'connected_gene': 'RASA3', 'score': 27.75}, {'connected_gene': 'LINC00452', 'score': 8.32}, {'connected_gene': 'UPF3A', 'score': 6.42}, {'connected_gene': 'LINC00565', 'score': 4.46}, {'connected_gene': 'PIR37177', 'score': 0.28}, {'connected_gene': 'C13orf46', 'score': 0.2}]
chr13 GH13I113997 113997507 113999663 0.72 [{'connected_gene': 'RASA3', 'score': 27.71}, {'connected_gene': 'LINC00452', 'score': 8.22}, {'connected_gene': 'UPF3A', 'score': 5.73}, {'connected_gene': 'C13orf46', 'score': 0.34}, {'connected_gene': 'PIR37177', 'score': 0.18}]
chr13 GH13I114054 114054643 114056311 0.59 [{'connected_gene': 'RASA3', 'score': 9.82}, {'connected_gene': 'LINC00452', 'score': 8.3}, {'connected_gene': 'UPF3A', 'score': 6.09}, {'connected_gene': 'PIR37177', 'score': 0.31}, {'connected_gene': 'C13orf46', 'score': 0.18}]
chr13 GH13I114014 114014398 114016971 0.85 [{'connected_gene': 'RASA3', 'score': 27.77}, {'connected_gene': 'LINC00452', 'score': 8.24}, {'connected_gene': 'UPF3A', 'score': 5.89}, {'connected_gene': 'C13orf46', 'score': 0.26}, {'connected_gene': 'PIR37177', 'score': 0.2}]
chr13 GH13I113976 113976521 113977798 0.91 [{'connected_gene': 'RASA3', 'score': 27.76}, {'connected_gene': 'LINC00452', 'score': 8.39}, {'connected_gene': 'UPF3A', 'score': 6.0}, {'connected_gene': 'C13orf46', 'score': 0.77}, {'connected_gene': 'PIR37177', 'score': 0.15}]
chr13 GH13I113451 113451629 113455025 1.3 [{'connected_gene': 'ADPRHL1', 'score': 550.77}, {'connected_gene': 'DCUN1D2', 'score': 19.72}, {'connected_gene': 'TMCO3', 'score': 11.08}, {'connected_gene': 'UPF3A', 'score': 4.98}, {'connected_gene': 'LOC101928841', 'score': 0.29}, {'connected_gene': 'GC13M113076', 'score': 0.2}]
chr13 GH13I113815 113815066 113823088 1.56 [{'connected_gene': 'LOC105370380', 'score': 550.77}, {'connected_gene': 'TMEM255B', 'score': 49.93}, {'connected_gene': 'CDC16', 'score': 13.66}, {'connected_gene': 'GAS6-AS1', 'score': 12.76}, {'connected_gene': 'UPF3A', 'score': 11.15}, {'connected_gene': 'ADPRHL1', 'score': 7.71}, {'connected_gene': 'GAS6', 'score': 0.25}]
chr13 GH13I114333 114333968 114334600 0.46 [{'connected_gene': 'LINC01054', 'score': 550.77}, {'connected_gene': 'UPF3A', 'score': 16.49}, {'connected_gene': 'RPL23AP97', 'score': 0.77}]
chr13 GH13I114117 114117446 114126200 1.42 [{'connected_gene': 'PIR55533', 'score': 550.77}, {'connected_gene': 'CDC16', 'score': 17.99}, {'connected_gene': 'RASA3', 'score': 11.48}, {'connected_gene': 'LINC00565', 'score': 6.44}, {'connected_gene': 'UPF3A', 'score': 6.37}, {'connected_gene': 'RASA3-IT1', 'score': 0.39}]
chr13 GH13I113974 113974383 113976374 0.62 [{'connected_gene': 'C13orf46', 'score': 550.77}, {'connected_gene': 'LINC00452', 'score': 8.43}, {'connected_gene': 'RASA3', 'score': 5.72}, {'connected_gene': 'UPF3A', 'score': 4.27}, {'connected_gene': 'PIR37177', 'score': 0.14}]
chr13 GH13I114161 114161466 114162800 1.3 [{'connected_gene': 'PIR45361', 'score': 550.77}, {'connected_gene': 'PIR40508', 'score': 550.77}, {'connected_gene': 'PIR42882', 'score': 550.77}, {'connected_gene': 'PIR55176', 'score': 550.77}, {'connected_gene': 'RASA3', 'score': 18.91}, {'connected_gene': 'CDC16', 'score': 12.44}, {'connected_gene': 'UPF3A', 'score': 9.58}, {'connected_gene': 'LINC00565', 'score': 4.68}]
chr13 GH13I114104 114104351 114113681 1.39 [{'connected_gene': 'PIR43235', 'score': 550.77}, {'connected_gene': 'RASA3-IT1', 'score': 550.77}, {'connected_gene': 'CDC16', 'score': 32.27}, {'connected_gene': 'UPF3A', 'score': 32.21}, {'connected_gene': 'RASA3', 'score': 26.98}, {'connected_gene': 'PIR39138', 'score': 0.77}, {'connected_gene': 'PIR55533', 'score': 0.39}]

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