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
ENST00000373824 [[28929361, 28930086], [28931883, 28931972], [28939758, 28939873], [28944464, 28944542], [28948425, 28948677], [28969503, 28969578]] [[28930050, 28930086], [28931883, 28931972], [28939758, 28939873], [28944464, 28944542], [28948425, 28948593]]
ENST00000263974 [[28929612, 28930086], [28931883, 28931972], [28939758, 28939873], [28944464, 28944542], [28948425, 28948677], [28969166, 28969517]] [[28930050, 28930086], [28931883, 28931972], [28939758, 28939873], [28944464, 28944542], [28948425, 28948593]]
ENST00000495422 [[28939758, 28939873], [28944464, 28944542], [28948425, 28948677], [28950457, 28950542], [28969503, 28969597]] None
ENST00000471683 [[28915834, 28916286], [28916788, 28916898], [28931883, 28931972], [28939758, 28939873], [28944464, 28944542]] None
NM_001135218 [[28929607, 28930086], [28931883, 28931972], [28939758, 28939873], [28944464, 28944542], [28948425, 28948677], [28969166, 28969604]] [[28930050, 28930086], [28931883, 28931972], [28939758, 28939873], [28944464, 28944542], [28948425, 28948593]]
NM_005644 [[28929607, 28930086], [28931883, 28931972], [28939758, 28939873], [28944464, 28944542], [28948425, 28948677], [28969503, 28969604]] [[28930050, 28930086], [28931883, 28931972], [28939758, 28939873], [28944464, 28944542], [28948425, 28948593]]
Promoter
Chrom Start End Description
chr1 28969530 28969605 CAGE_peak_1_at_TAF12_5end
chr1 28969607 28969621 CAGE_peak_2_at_TAF12_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I028578 28578949 28583451 1.62 [{'connected_gene': 'SNHG12', 'score': 636.77}, {'connected_gene': 'GC01M028625', 'score': 550.77}, {'connected_gene': 'GC01M028628', 'score': 550.77}, {'connected_gene': 'SNORA44', 'score': 550.77}, {'connected_gene': 'PIR59489', 'score': 550.77}, {'connected_gene': 'SNORA16A', 'score': 550.77}, {'connected_gene': 'SNORA61', 'score': 550.77}, {'connected_gene': 'GC01M028623', 'score': 550.77}, {'connected_gene': 'GC01M028618', 'score': 550.77}, {'connected_gene': 'GC01M028624', 'score': 550.77}, {'connected_gene': 'GC01M028612', 'score': 550.77}, {'connected_gene': 'GC01M028584', 'score': 550.77}, {'connected_gene': 'SRSF4', 'score': 125.01}, {'connected_gene': 'GMEB1', 'score': 104.04}, {'connected_gene': 'TRNAU1AP', 'score': 96.1}, {'connected_gene': 'YTHDF2', 'score': 78.44}, {'connected_gene': 'PHACTR4', 'score': 46.71}, {'connected_gene': 'ENSG00000231344', 'score': 44.9}, {'connected_gene': 'SNORA73B', 'score': 39.77}, {'connected_gene': 'RCC1', 'score': 37.74}, {'connected_gene': 'FAM76A', 'score': 36.62}, {'connected_gene': 'SNHG3', 'score': 29.57}, {'connected_gene': 'ENSG00000237934', 'score': 27.75}, {'connected_gene': 'EYA3', 'score': 18.19}, {'connected_gene': 'PPP1R8', 'score': 15.28}, {'connected_gene': 'TMEM200B', 'score': 14.25}, {'connected_gene': 'TAF12', 'score': 13.52}, {'connected_gene': 'RAB42', 'score': 10.92}, {'connected_gene': 'DNAJC8', 'score': 10.33}, {'connected_gene': 'AHDC1', 'score': 10.17}]
chr1 GH01I028602 28602822 28603098 0.84 [{'connected_gene': 'SNORD99', 'score': 12.26}, {'connected_gene': 'SNORA61', 'score': 11.87}, {'connected_gene': 'PRDX3P2', 'score': 11.69}, {'connected_gene': 'SNORA73B', 'score': 11.66}, {'connected_gene': 'RCC1', 'score': 11.66}, {'connected_gene': 'SNHG3', 'score': 11.66}, {'connected_gene': 'GMEB1', 'score': 11.14}, {'connected_gene': 'PHACTR4', 'score': 10.5}, {'connected_gene': 'RAB42', 'score': 0.39}, {'connected_gene': 'TAF12', 'score': 0.26}]
chr1 GH01I028641 28641744 28645076 2.31 [{'connected_gene': 'TAF12', 'score': 550.77}, {'connected_gene': 'LINC01715', 'score': 550.77}, {'connected_gene': 'SRSF4', 'score': 14.76}, {'connected_gene': 'YTHDF2', 'score': 13.62}, {'connected_gene': 'GMEB1', 'score': 13.41}, {'connected_gene': 'SNORA73B', 'score': 12.97}, {'connected_gene': 'SNHG12', 'score': 12.93}, {'connected_gene': 'SNHG3', 'score': 12.52}, {'connected_gene': 'TRNAU1AP', 'score': 11.29}, {'connected_gene': 'PHACTR4', 'score': 10.98}, {'connected_gene': 'RCC1', 'score': 10.02}, {'connected_gene': 'GC01P028670', 'score': 0.44}]
chr1 GH01I028601 28601289 28602703 0.96 [{'connected_gene': 'PHACTR4', 'score': 15.49}, {'connected_gene': 'SNORD99', 'score': 12.26}, {'connected_gene': 'SNORA61', 'score': 11.87}, {'connected_gene': 'TRNAU1AP', 'score': 11.72}, {'connected_gene': 'PRDX3P2', 'score': 11.7}, {'connected_gene': 'SNORA73B', 'score': 11.66}, {'connected_gene': 'RCC1', 'score': 11.66}, {'connected_gene': 'SNHG3', 'score': 11.66}, {'connected_gene': 'GMEB1', 'score': 11.14}, {'connected_gene': 'RAB42', 'score': 0.44}, {'connected_gene': 'TAF12', 'score': 0.26}]
chr1 GH01I028599 28599209 28599358 0.57 [{'connected_gene': 'PHACTR4', 'score': 4.73}, {'connected_gene': 'ENSG00000271398', 'score': 4.27}, {'connected_gene': 'RAB42', 'score': 0.44}, {'connected_gene': 'TAF12', 'score': 0.26}]
chr1 GH01I028512 28511589 28511778 0.99 [{'connected_gene': 'PHACTR4', 'score': 32.24}, {'connected_gene': 'SRSF4', 'score': 18.72}, {'connected_gene': 'GMEB1', 'score': 17.24}, {'connected_gene': 'TRNAU1AP', 'score': 15.27}, {'connected_gene': 'SNHG12', 'score': 13.64}, {'connected_gene': 'TAF12', 'score': 13.43}, {'connected_gene': 'YTHDF2', 'score': 12.2}, {'connected_gene': 'SNORA73B', 'score': 0.77}, {'connected_gene': 'RCC1', 'score': 0.44}, {'connected_gene': 'PRDX3P2', 'score': 0.37}]
chr1 GH01I028589 28589579 28596536 2.23 [{'connected_gene': 'RAB42', 'score': 550.77}, {'connected_gene': 'PHACTR4', 'score': 12.16}, {'connected_gene': 'THEMIS2', 'score': 4.87}, {'connected_gene': 'ENSG00000271398', 'score': 4.23}, {'connected_gene': 'TAF12', 'score': 0.23}]
chr1 GH01I028513 28513073 28513959 0.92 [{'connected_gene': 'SRSF4', 'score': 42.3}, {'connected_gene': 'SNHG12', 'score': 30.95}, {'connected_gene': 'GMEB1', 'score': 30.42}, {'connected_gene': 'TRNAU1AP', 'score': 27.41}, {'connected_gene': 'PHACTR4', 'score': 22.7}, {'connected_gene': 'YTHDF2', 'score': 21.58}, {'connected_gene': 'TAF12', 'score': 13.44}, {'connected_gene': 'SNORA73B', 'score': 11.87}, {'connected_gene': 'SNHG3', 'score': 10.61}, {'connected_gene': 'ENSG00000237934', 'score': 10.04}, {'connected_gene': 'ENSG00000231344', 'score': 10.03}, {'connected_gene': 'RCC1', 'score': 0.44}, {'connected_gene': 'PRDX3P2', 'score': 0.39}]
chr1 GH01I028511 28511849 28512849 0.99 [{'connected_gene': 'SRSF4', 'score': 42.3}, {'connected_gene': 'SNHG12', 'score': 30.94}, {'connected_gene': 'GMEB1', 'score': 30.42}, {'connected_gene': 'TRNAU1AP', 'score': 27.4}, {'connected_gene': 'YTHDF2', 'score': 21.58}, {'connected_gene': 'PHACTR4', 'score': 20.66}, {'connected_gene': 'TAF12', 'score': 13.43}, {'connected_gene': 'SNORA73B', 'score': 11.87}, {'connected_gene': 'SNHG3', 'score': 10.61}, {'connected_gene': 'ENSG00000237934', 'score': 10.04}, {'connected_gene': 'ENSG00000231344', 'score': 10.03}, {'connected_gene': 'RCC1', 'score': 0.44}, {'connected_gene': 'PRDX3P2', 'score': 0.39}]
chr1 GH01I028518 28515829 28515938 0.69 [{'connected_gene': 'SRSF4', 'score': 18.72}, {'connected_gene': 'GMEB1', 'score': 17.24}, {'connected_gene': 'TRNAU1AP', 'score': 15.29}, {'connected_gene': 'SNHG12', 'score': 13.65}, {'connected_gene': 'TAF12', 'score': 13.44}, {'connected_gene': 'YTHDF2', 'score': 12.2}, {'connected_gene': 'SNORA73B', 'score': 0.44}, {'connected_gene': 'RCC1', 'score': 0.44}, {'connected_gene': 'PRDX3P2', 'score': 0.39}]
chr1 GH01I029201 29201181 29203598 1.23 [{'connected_gene': 'SRSF4', 'score': 44.61}, {'connected_gene': 'GMEB1', 'score': 29.94}, {'connected_gene': 'TRNAU1AP', 'score': 28.59}, {'connected_gene': 'SNHG12', 'score': 27.15}, {'connected_gene': 'MECR', 'score': 20.69}, {'connected_gene': 'YTHDF2', 'score': 20.36}, {'connected_gene': 'TMEM200B', 'score': 18.58}, {'connected_gene': 'TAF12', 'score': 13.34}, {'connected_gene': 'ENSG00000237934', 'score': 11.75}]
chr1 GH01I028313 28313209 28315799 1.57 [{'connected_gene': 'XKR8', 'score': 20.84}, {'connected_gene': 'FAM76A', 'score': 18.92}, {'connected_gene': 'THEMIS2', 'score': 15.92}, {'connected_gene': 'PHACTR4', 'score': 14.69}, {'connected_gene': 'AHDC1', 'score': 14.54}, {'connected_gene': 'PPP1R8', 'score': 12.97}, {'connected_gene': 'ACTG1P20', 'score': 11.45}, {'connected_gene': 'TRNAU1AP', 'score': 9.99}, {'connected_gene': 'TMEM200B', 'score': 9.78}, {'connected_gene': 'PTAFR', 'score': 5.92}, {'connected_gene': 'MED18', 'score': 5.22}, {'connected_gene': 'SESN2', 'score': 5.0}, {'connected_gene': 'GMEB1', 'score': 2.36}, {'connected_gene': 'TAF12', 'score': 1.61}, {'connected_gene': 'EYA3', 'score': 1.49}]
chr1 GH01I027866 27866972 27870307 1.66 [{'connected_gene': 'XKR8', 'score': 31.13}, {'connected_gene': 'GMEB1', 'score': 28.51}, {'connected_gene': 'WASF2', 'score': 18.38}, {'connected_gene': 'THEMIS2', 'score': 17.86}, {'connected_gene': 'TRNAU1AP', 'score': 15.04}, {'connected_gene': 'EYA3', 'score': 13.55}, {'connected_gene': 'SNHG12', 'score': 13.48}, {'connected_gene': 'TAF12', 'score': 13.34}, {'connected_gene': 'RPA2', 'score': 12.83}, {'connected_gene': 'YTHDF2', 'score': 12.15}, {'connected_gene': 'NPM1P39', 'score': 11.79}, {'connected_gene': 'GPATCH3', 'score': 10.84}, {'connected_gene': 'MAP3K6', 'score': 10.52}, {'connected_gene': 'GPN2', 'score': 9.83}, {'connected_gene': 'FGR', 'score': 8.98}, {'connected_gene': 'PTAFR', 'score': 7.37}, {'connected_gene': 'MED18', 'score': 4.62}, {'connected_gene': 'SESN2', 'score': 3.98}, {'connected_gene': 'PIR39917', 'score': 0.37}]
chr1 GH01I028504 28504922 28511495 2.32 [{'connected_gene': 'SNORA73B', 'score': 572.97}, {'connected_gene': 'RCC1', 'score': 560.67}, {'connected_gene': 'SNORA73A', 'score': 550.77}, {'connected_gene': 'SRSF4', 'score': 64.12}, {'connected_gene': 'GMEB1', 'score': 61.89}, {'connected_gene': 'TRNAU1AP', 'score': 52.65}, {'connected_gene': 'SNHG12', 'score': 41.8}, {'connected_gene': 'PHACTR4', 'score': 41.55}, {'connected_gene': 'YTHDF2', 'score': 33.21}, {'connected_gene': 'SNHG3', 'score': 21.62}, {'connected_gene': 'TAF12', 'score': 13.43}, {'connected_gene': 'PTAFR', 'score': 12.37}, {'connected_gene': 'FAM76A', 'score': 10.32}, {'connected_gene': 'AHDC1', 'score': 10.17}, {'connected_gene': 'ENSG00000237934', 'score': 10.04}, {'connected_gene': 'ENSG00000231344', 'score': 10.02}, {'connected_gene': 'THEMIS2', 'score': 4.5}]
chr1 GH01I028516 28516721 28520844 2.29 [{'connected_gene': 'RCC1', 'score': 560.37}, {'connected_gene': 'GMEB1', 'score': 62.19}, {'connected_gene': 'SRSF4', 'score': 58.36}, {'connected_gene': 'TRNAU1AP', 'score': 44.44}, {'connected_gene': 'SNHG12', 'score': 40.6}, {'connected_gene': 'PHACTR4', 'score': 37.86}, {'connected_gene': 'YTHDF2', 'score': 32.16}, {'connected_gene': 'ENSG00000237934', 'score': 18.32}, {'connected_gene': 'ENSG00000231344', 'score': 18.22}, {'connected_gene': 'TAF12', 'score': 13.44}, {'connected_gene': 'SNORA73B', 'score': 11.49}, {'connected_gene': 'SNHG3', 'score': 10.57}, {'connected_gene': 'EYA3', 'score': 10.16}, {'connected_gene': 'PRDX3P2', 'score': 0.44}]
chr1 GH01I028647 28647107 28649783 1.67 [{'connected_gene': 'GC01P028670', 'score': 550.77}, {'connected_gene': 'ENSG00000270103', 'score': 550.77}, {'connected_gene': 'RNU11', 'score': 550.77}, {'connected_gene': 'GC01P028651', 'score': 550.77}, {'connected_gene': 'GC01P028669', 'score': 550.77}, {'connected_gene': 'GC01P028671', 'score': 550.77}, {'connected_gene': 'GC01P028672', 'score': 550.77}, {'connected_gene': 'SRSF4', 'score': 149.5}, {'connected_gene': 'GMEB1', 'score': 122.65}, {'connected_gene': 'TRNAU1AP', 'score': 98.57}, {'connected_gene': 'YTHDF2', 'score': 96.87}, {'connected_gene': 'SNHG12', 'score': 87.19}, {'connected_gene': 'FAM76A', 'score': 76.55}, {'connected_gene': 'PHACTR4', 'score': 68.93}, {'connected_gene': 'SNORA73B', 'score': 39.7}, {'connected_gene': 'ENSG00000231344', 'score': 36.79}, {'connected_gene': 'SNHG3', 'score': 29.5}, {'connected_gene': 'RCC1', 'score': 29.43}, {'connected_gene': 'ENSG00000237934', 'score': 28.54}, {'connected_gene': 'EYA3', 'score': 26.56}, {'connected_gene': 'PPP1R8', 'score': 25.39}, {'connected_gene': 'TMEM200B', 'score': 21.39}, {'connected_gene': 'TAF12', 'score': 13.75}, {'connected_gene': 'PTPRU', 'score': 10.93}, {'connected_gene': 'RAB42', 'score': 10.74}, {'connected_gene': 'ENSG00000271398', 'score': 4.22}, {'connected_gene': 'LINC01715', 'score': 0.44}]

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