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
ENST00000372748 [[40766158, 40767053], [40767483, 40767561], [40768292, 40768481], [40768802, 40768857], [40769201, 40769348], [40769478, 40769511], [40769599, 40769644], [40769735, 40769771], [40769991, 40770063], [40770147, 40770201], [40770465, 40770519], [40771386, 40771440], [40771814, 40771859], [40773117, 40773171], [40773374, 40773428], [40773863, 40773917], [40775609, 40775663], [40775782, 40775836], [40775935, 40775989], [40776385, 40776439], [40776764, 40776818], [40776901, 40776958], [40777171, 40777219], [40777333, 40777387], [40777730, 40777784], [40778127, 40778151], [40778245, 40778281], [40778402, 40778456], [40779876, 40779939], [40780023, 40780059], [40781261, 40781336], [40782794, 40782966]] [[40766853, 40767053], [40767483, 40767561], [40768292, 40768481], [40768802, 40768857], [40769201, 40769348], [40769478, 40769511], [40769599, 40769644], [40769735, 40769771], [40769991, 40770063], [40770147, 40770201], [40770465, 40770519], [40771386, 40771440], [40771814, 40771859], [40773117, 40773171], [40773374, 40773428], [40773863, 40773917], [40775609, 40775663], [40775782, 40775836], [40775935, 40775989], [40776385, 40776439], [40776764, 40776818], [40776901, 40776958], [40777171, 40777219], [40777333, 40777387], [40777730, 40777784], [40778127, 40778151], [40778245, 40778281], [40778402, 40778456], [40779876, 40779939], [40780023, 40780059], [40781261, 40781336], [40782794, 40782869]]
ENST00000482722 [[40766339, 40767053], [40767483, 40767561], [40768292, 40768481], [40768802, 40768857], [40769201, 40769348], [40769478, 40769511], [40769599, 40769644], [40769735, 40769771], [40769991, 40770063], [40770147, 40770201], [40770465, 40770519], [40771386, 40771440], [40771814, 40771859], [40773117, 40773171], [40773374, 40773428], [40773863, 40773917], [40775609, 40775663], [40775782, 40775836], [40775935, 40775989], [40776385, 40776439], [40776764, 40776818], [40776901, 40776958], [40777171, 40777219], [40777333, 40777387], [40777730, 40778151], [40778245, 40778281], [40778402, 40778456], [40779876, 40779939], [40780023, 40780059], [40781261, 40781336], [40783025, 40783060]] None
ENST00000466267 [[40767483, 40767561], [40768292, 40768481], [40768802, 40768857], [40769201, 40769348], [40769478, 40769511], [40769599, 40769644], [40769735, 40769771], [40769991, 40770063], [40770147, 40770201], [40770465, 40770519], [40770597, 40770669]] None
ENST00000427563 [[40768292, 40768481], [40769201, 40769348], [40769478, 40769511], [40769599, 40769644], [40769735, 40769771], [40769991, 40770063], [40770147, 40770173]] [[40768292, 40768481], [40769201, 40769348], [40769478, 40769511], [40769599, 40769644], [40769735, 40769771], [40769991, 40770063], [40770147, 40770173]]
ENST00000488463 [[40773374, 40773428], [40773863, 40773917], [40775609, 40775663], [40775782, 40775836], [40775935, 40775989], [40776385, 40776439], [40776764, 40776818], [40776901, 40776958], [40777171, 40777219], [40777333, 40777387], [40777730, 40777784], [40778127, 40778151], [40778245, 40778281], [40778402, 40778456], [40779876, 40779939], [40780023, 40780059], [40780909, 40781110]] None
ENST00000417105 [[40775961, 40775989], [40776385, 40776439], [40776764, 40776818], [40776901, 40776958], [40777171, 40777219], [40777333, 40777387], [40777730, 40777784], [40778127, 40778151], [40778245, 40778281], [40778402, 40778456], [40779876, 40779939], [40780023, 40780059], [40781261, 40781336], [40782322, 40782362]] [[40775961, 40775989], [40776385, 40776439], [40776764, 40776818], [40776901, 40776958], [40777171, 40777219], [40777333, 40777387], [40777730, 40777784], [40778127, 40778151], [40778245, 40778281], [40778402, 40778456], [40779876, 40779939], [40780023, 40780059], [40781261, 40781336], [40782322, 40782362]]
ENST00000496215 [[40777171, 40777219], [40777333, 40777387], [40777730, 40777784], [40778127, 40778151], [40778245, 40778281], [40778402, 40778456], [40779876, 40779939], [40780023, 40780059], [40780909, 40781081], [40781261, 40781336], [40782322, 40782374]] None
ENST00000372736 [[40777342, 40777387], [40777730, 40777784], [40781261, 40781336], [40782794, 40782939]] [[40777342, 40777387], [40777730, 40777784], [40781261, 40781336], [40782794, 40782869]]
ENST00000461118 [[40777901, 40778151], [40778245, 40778281], [40778402, 40778456], [40779876, 40779939], [40780023, 40780059], [40780909, 40781137], [40781261, 40781336], [40782794, 40782981], [40783259, 40783488]] None
ENST00000490132 [[40780911, 40781137], [40781261, 40781336], [40781516, 40781707]] None
ENST00000495948 [[40781064, 40781336], [40782794, 40782945]] None
NM_001852 [[40766162, 40767053], [40767483, 40767561], [40768292, 40768481], [40768802, 40768857], [40769201, 40769348], [40769478, 40769511], [40769599, 40769644], [40769735, 40769771], [40769991, 40770063], [40770147, 40770201], [40770465, 40770519], [40771386, 40771440], [40771814, 40771859], [40773117, 40773171], [40773374, 40773428], [40773863, 40773917], [40775609, 40775663], [40775782, 40775836], [40775935, 40775989], [40776385, 40776439], [40776764, 40776818], [40776901, 40776958], [40777171, 40777219], [40777333, 40777387], [40777730, 40777784], [40778127, 40778151], [40778245, 40778281], [40778402, 40778456], [40779876, 40779939], [40780023, 40780059], [40781261, 40781336], [40782794, 40782939]] [[40766853, 40767053], [40767483, 40767561], [40768292, 40768481], [40768802, 40768857], [40769201, 40769348], [40769478, 40769511], [40769599, 40769644], [40769735, 40769771], [40769991, 40770063], [40770147, 40770201], [40770465, 40770519], [40771386, 40771440], [40771814, 40771859], [40773117, 40773171], [40773374, 40773428], [40773863, 40773917], [40775609, 40775663], [40775782, 40775836], [40775935, 40775989], [40776385, 40776439], [40776764, 40776818], [40776901, 40776958], [40777171, 40777219], [40777333, 40777387], [40777730, 40777784], [40778127, 40778151], [40778245, 40778281], [40778402, 40778456], [40779876, 40779939], [40780023, 40780059], [40781261, 40781336], [40782794, 40782869]]
Promoter
Chrom Start End Description
chr1 40770344 40770353 CAGE_peak_29_at_COL9A2_5end
chr1 40781025 40781038 CAGE_peak_8_at_COL9A2_5end
chr1 40781042 40781053 CAGE_peak_9_at_COL9A2_5end
chr1 40781056 40781094 CAGE_peak_2_at_COL9A2_5end
chr1 40781100 40781107 CAGE_peak_20_at_COL9A2_5end
chr1 40781765 40781783 CAGE_peak_6_at_COL9A2_5end
chr1 40782347 40782378 CAGE_peak_3_at_COL9A2_5end
chr1 40782879 40782904 CAGE_peak_7_at_COL9A2_5end
chr1 40782923 40782936 CAGE_peak_4_at_COL9A2_5end
chr1 40782938 40782974 CAGE_peak_1_at_COL9A2_5end
chr1 40782976 40782993 CAGE_peak_5_at_COL9A2_5end
chr1 40783289 40783303 CAGE_peak_11_at_COL9A2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I040132 40132801 40133000 0.2 [{'connected_gene': 'LOC728602', 'score': 550.77}, {'connected_gene': 'GC01P040133', 'score': 550.77}, {'connected_gene': 'COL9A2', 'score': 11.79}, {'connected_gene': 'RLF', 'score': 11.21}, {'connected_gene': 'SMAP2', 'score': 11.11}, {'connected_gene': 'ZMPSTE24', 'score': 10.71}, {'connected_gene': 'ENSG00000231296', 'score': 10.7}]
chr1 GH01I040413 40413402 40415139 0.84 [{'connected_gene': 'SMAP2', 'score': 21.62}, {'connected_gene': 'ZFP69B', 'score': 12.0}, {'connected_gene': 'COL9A2', 'score': 11.49}, {'connected_gene': 'LOC105378672', 'score': 11.14}, {'connected_gene': 'EXO5', 'score': 11.14}, {'connected_gene': 'ENSG00000231296', 'score': 11.12}, {'connected_gene': 'ZMPSTE24', 'score': 11.12}, {'connected_gene': 'ZFP69', 'score': 10.75}, {'connected_gene': 'RLF', 'score': 10.15}, {'connected_gene': 'HEYL', 'score': 4.33}, {'connected_gene': 'GC01P040432', 'score': 0.37}, {'connected_gene': 'GC01M040364', 'score': 0.25}]
chr1 GH01I040140 40140201 40140518 0.87 [{'connected_gene': 'RLF', 'score': 21.67}, {'connected_gene': 'ZFP69B', 'score': 11.32}, {'connected_gene': 'COL9A2', 'score': 11.22}, {'connected_gene': 'PPT1', 'score': 11.21}, {'connected_gene': 'EXO5', 'score': 11.13}, {'connected_gene': 'ZMPSTE24', 'score': 10.76}, {'connected_gene': 'ENSG00000231296', 'score': 10.76}, {'connected_gene': 'TMCO2', 'score': 10.68}, {'connected_gene': 'PPIE', 'score': 10.42}, {'connected_gene': 'PPIEL', 'score': 9.92}, {'connected_gene': 'CAP1', 'score': 9.42}, {'connected_gene': 'GC01M040138', 'score': 0.77}, {'connected_gene': 'GC01P040133', 'score': 0.44}]
chr1 GH01I040185 40185864 40188137 0.95 [{'connected_gene': 'RLF', 'score': 11.82}, {'connected_gene': 'ZMPSTE24', 'score': 11.16}, {'connected_gene': 'ENSG00000231296', 'score': 11.15}, {'connected_gene': 'TMCO2', 'score': 10.44}, {'connected_gene': 'SMAP2', 'score': 10.19}, {'connected_gene': 'CAP1', 'score': 9.01}, {'connected_gene': 'COL9A2', 'score': 8.7}, {'connected_gene': 'RNU6-1237P', 'score': 0.44}, {'connected_gene': 'GC01P040233', 'score': 0.25}]
chr1 GH01I040311 40311801 40317211 1.93 [{'connected_gene': 'COL9A2', 'score': 7.39}, {'connected_gene': 'PPT1', 'score': 4.53}, {'connected_gene': 'ENSG00000231296', 'score': 0.23}]
chr1 GH01I040266 40266095 40268815 0.85 [{'connected_gene': 'COL9A2', 'score': 15.44}, {'connected_gene': 'ZMPSTE24', 'score': 11.18}, {'connected_gene': 'ENSG00000231296', 'score': 0.77}, {'connected_gene': 'GC01P040244', 'score': 0.34}]
chr1 GH01I040317 40317272 40317331 0.99 [{'connected_gene': 'COL9A2', 'score': 550.77}, {'connected_gene': 'ENSG00000231296', 'score': 0.23}]
chr1 GH01I040305 40305355 40307269 0.92 [{'connected_gene': 'PPIE', 'score': 16.63}, {'connected_gene': 'TRIT1', 'score': 15.6}, {'connected_gene': 'PPIEL', 'score': 12.8}, {'connected_gene': 'LOC101929516', 'score': 9.91}, {'connected_gene': 'COL9A2', 'score': 6.1}, {'connected_gene': 'ENSG00000231296', 'score': 0.26}, {'connected_gene': 'GC01P040244', 'score': 0.21}]
chr1 GH01I040338 40338601 40340400 1.62 [{'connected_gene': 'PPIE', 'score': 15.01}, {'connected_gene': 'COL9A2', 'score': 12.61}, {'connected_gene': 'ENSG00000231296', 'score': 10.88}, {'connected_gene': 'ZMPSTE24', 'score': 10.87}, {'connected_gene': 'TMCO2', 'score': 10.43}, {'connected_gene': 'EXO5', 'score': 10.16}, {'connected_gene': 'SMAP2', 'score': 5.72}, {'connected_gene': 'PPT1', 'score': 4.5}, {'connected_gene': 'RLF', 'score': 1.84}, {'connected_gene': 'RPL21P20', 'score': 0.44}]
chr1 GH01I041314 41314518 41315558 0.69 [{'connected_gene': 'NFYC-AS1', 'score': 12.13}, {'connected_gene': 'LOC101929901', 'score': 11.65}, {'connected_gene': 'EXO5', 'score': 11.54}, {'connected_gene': 'RIMS3', 'score': 10.21}, {'connected_gene': 'COL9A2', 'score': 9.85}, {'connected_gene': 'FOXO6', 'score': 5.89}, {'connected_gene': 'RPL36AP9', 'score': 0.23}, {'connected_gene': 'LOC102723924', 'score': 0.19}]
chr1 GH01I040141 40140584 40140923 0.63 [{'connected_gene': 'GC01M040138', 'score': 550.77}, {'connected_gene': 'RLF', 'score': 21.67}, {'connected_gene': 'ZFP69B', 'score': 11.32}, {'connected_gene': 'COL9A2', 'score': 11.22}, {'connected_gene': 'PPT1', 'score': 11.21}, {'connected_gene': 'EXO5', 'score': 11.13}, {'connected_gene': 'ZMPSTE24', 'score': 10.76}, {'connected_gene': 'ENSG00000231296', 'score': 10.76}, {'connected_gene': 'TMCO2', 'score': 10.68}, {'connected_gene': 'PPIE', 'score': 10.42}, {'connected_gene': 'PPIEL', 'score': 9.92}, {'connected_gene': 'CAP1', 'score': 9.42}, {'connected_gene': 'GC01P040133', 'score': 0.44}]
chr1 GH01I040984 40984408 40989242 0.78 [{'connected_gene': 'ENSG00000235358', 'score': 14.75}, {'connected_gene': 'CTPS1', 'score': 12.44}, {'connected_gene': 'SLFNL1', 'score': 11.74}, {'connected_gene': 'MIR30C1', 'score': 9.67}, {'connected_gene': 'MIR30E', 'score': 9.67}, {'connected_gene': 'NFYC', 'score': 9.65}, {'connected_gene': 'COL9A2', 'score': 4.66}, {'connected_gene': 'GC01M041011', 'score': 0.31}]
chr1 GH01I040256 40256224 40259401 2.15 [{'connected_gene': 'ENSG00000259943', 'score': 630.31}, {'connected_gene': 'ZMPSTE24', 'score': 560.52}, {'connected_gene': 'PPIE', 'score': 138.85}, {'connected_gene': 'PPIEL', 'score': 101.86}, {'connected_gene': 'EXO5', 'score': 100.52}, {'connected_gene': 'TRIT1', 'score': 70.26}, {'connected_gene': 'RLF', 'score': 37.41}, {'connected_gene': 'NFYC-AS1', 'score': 30.94}, {'connected_gene': 'NFYC', 'score': 30.02}, {'connected_gene': 'LOC105378672', 'score': 29.6}, {'connected_gene': 'ENSG00000182109', 'score': 22.53}, {'connected_gene': 'LOC101929516', 'score': 19.32}, {'connected_gene': 'COL9A2', 'score': 14.24}, {'connected_gene': 'ZFP69', 'score': 13.04}, {'connected_gene': 'PABPC4', 'score': 12.29}, {'connected_gene': 'PPT1', 'score': 10.98}, {'connected_gene': 'SCMH1', 'score': 10.79}, {'connected_gene': 'OXCT2P1', 'score': 9.92}, {'connected_gene': 'SNORA55', 'score': 9.87}, {'connected_gene': 'TMCO2', 'score': 0.39}, {'connected_gene': 'GC01P040244', 'score': 0.39}]

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