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
ENST00000300688 [[118271868, 118272432], [118277651, 118277812], [118279714, 118280560]] [[118272380, 118272432], [118277651, 118277812], [118279714, 118279813]]
ENST00000529790 [[118272324, 118272432], [118276371, 118276424], [118277651, 118277812], [118279714, 118280292]] None
ENST00000529770 [[118272333, 118272432], [118274638, 118274700], [118276371, 118276424], [118277651, 118277812], [118279714, 118279914]] None
ENST00000533172 [[118272336, 118272432], [118277651, 118277691], [118279714, 118279914]] None
ENST00000524422 [[118272346, 118272432], [118277651, 118277812], [118301738, 118302211]] [[118272380, 118272432], [118277651, 118277812], [118301738, 118301756]]
ENST00000529460 [[118272347, 118272443], [118277651, 118277812], [118279714, 118279914]] None
ENST00000534385 [[118272366, 118272432], [118277651, 118278208]] None
ENST00000527186 [[118276841, 118277812], [118279714, 118280325]] None
Promoter
Chrom Start End Description
chr11 118272059 118272104 CAGE_peak_4_at_ATP5L_5end
chr11 118272112 118272124 CAGE_peak_5_at_ATP5L_5end
chr11 118272301 118272312 CAGE_peak_3_at_ATP5L_5end
chr11 118272314 118272327 CAGE_peak_1_at_ATP5L_5end
chr11 118272328 118272342 CAGE_peak_2_at_ATP5L_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I118362 118362656 118362715 0.5 [{'connected_gene': 'UBE4A', 'score': 550.77}, {'connected_gene': 'CD3E', 'score': 10.8}, {'connected_gene': 'ENSG00000254873', 'score': 10.66}, {'connected_gene': 'ATP5MG', 'score': 10.66}, {'connected_gene': 'KMT2A', 'score': 10.31}, {'connected_gene': 'ENSG00000255384', 'score': 10.31}, {'connected_gene': 'LOC101929089', 'score': 10.17}, {'connected_gene': 'TMEM25', 'score': 10.17}, {'connected_gene': 'IFT46', 'score': 4.64}]
chr11 GH11I118361 118361001 118361200 0.2 [{'connected_gene': 'UBE4A', 'score': 550.77}, {'connected_gene': 'CD3E', 'score': 10.8}, {'connected_gene': 'ENSG00000254873', 'score': 10.64}, {'connected_gene': 'ATP5MG', 'score': 10.64}, {'connected_gene': 'ENSG00000255384', 'score': 10.31}, {'connected_gene': 'KMT2A', 'score': 10.3}, {'connected_gene': 'LOC101929089', 'score': 10.17}, {'connected_gene': 'TMEM25', 'score': 10.17}]
chr11 GH11I118358 118358822 118360601 2.07 [{'connected_gene': 'UBE4A', 'score': 557.34}, {'connected_gene': 'LOC105369519', 'score': 6.94}, {'connected_gene': 'IFT46', 'score': 4.85}, {'connected_gene': 'ATP5MG', 'score': 0.26}]
chr11 GH11I118614 118614770 118623969 2.03 [{'connected_gene': 'TREHP1', 'score': 43.35}, {'connected_gene': 'LOC105369519', 'score': 31.96}, {'connected_gene': 'TREH', 'score': 25.33}, {'connected_gene': 'KMT2A', 'score': 20.28}, {'connected_gene': 'IFT46', 'score': 19.42}, {'connected_gene': 'MPZL2', 'score': 14.0}, {'connected_gene': 'RNU6-1157P', 'score': 11.33}, {'connected_gene': 'ARCN1', 'score': 11.03}, {'connected_gene': 'RPL5P30', 'score': 10.81}, {'connected_gene': 'ENSG00000255384', 'score': 9.69}, {'connected_gene': 'ATP5MG', 'score': 9.41}, {'connected_gene': 'ENSG00000254873', 'score': 9.41}, {'connected_gene': 'PHLDB1', 'score': 5.15}, {'connected_gene': 'ENSG00000255176', 'score': 0.37}]
chr11 GH11I118872 118872208 118873207 1.28 [{'connected_gene': 'UPK2', 'score': 11.27}, {'connected_gene': 'BCL9L', 'score': 11.03}, {'connected_gene': 'RN7SL688P', 'score': 11.02}, {'connected_gene': 'PHLDB1', 'score': 9.36}, {'connected_gene': 'TREH', 'score': 6.26}, {'connected_gene': 'CXCR5', 'score': 4.62}, {'connected_gene': 'ATP5MG', 'score': 4.06}, {'connected_gene': 'KMT2A', 'score': 3.98}, {'connected_gene': 'CCDC84', 'score': 3.96}, {'connected_gene': 'RPS25', 'score': 2.93}, {'connected_gene': 'DDX6', 'score': 2.47}, {'connected_gene': 'VPS11', 'score': 2.46}, {'connected_gene': 'H2AFX', 'score': 1.47}, {'connected_gene': 'ENSG00000201535', 'score': 0.28}]
chr11 GH11I118882 118882579 118886200 1.78 [{'connected_gene': 'CXCR5', 'score': 583.07}, {'connected_gene': 'TREHP1', 'score': 4.44}, {'connected_gene': 'RPS25', 'score': 3.5}, {'connected_gene': 'KMT2A', 'score': 3.49}, {'connected_gene': 'DDX6', 'score': 3.31}, {'connected_gene': 'CCDC84', 'score': 2.88}, {'connected_gene': 'ATP5MG', 'score': 2.8}, {'connected_gene': 'VPS11', 'score': 2.22}, {'connected_gene': 'ARCN1', 'score': 1.23}, {'connected_gene': 'ENSG00000245869', 'score': 0.77}]
chr11 GH11I118580 118580566 118582332 0.43 [{'connected_gene': 'IFT46', 'score': 23.45}, {'connected_gene': 'PHLDB1', 'score': 11.54}, {'connected_gene': 'LOC101929089', 'score': 10.61}, {'connected_gene': 'TMEM25', 'score': 10.61}, {'connected_gene': 'TTC36', 'score': 10.27}, {'connected_gene': 'ENSG00000254873', 'score': 9.53}, {'connected_gene': 'ATP5MG', 'score': 9.52}, {'connected_gene': 'ENSG00000255384', 'score': 9.38}, {'connected_gene': 'KMT2A', 'score': 9.38}, {'connected_gene': 'ENSG00000245869', 'score': 9.19}, {'connected_gene': 'CXCR5', 'score': 9.19}, {'connected_gene': 'ARCN1', 'score': 0.44}, {'connected_gene': 'GC11P118595', 'score': 0.39}]
chr11 GH11I118601 118601649 118602784 0.79 [{'connected_gene': 'IFT46', 'score': 33.79}, {'connected_gene': 'ENSG00000255176', 'score': 11.41}, {'connected_gene': 'TREH', 'score': 10.81}, {'connected_gene': 'ARCN1', 'score': 10.77}, {'connected_gene': 'TTC36', 'score': 9.85}, {'connected_gene': 'ATP5MG', 'score': 9.29}, {'connected_gene': 'ENSG00000254873', 'score': 9.29}, {'connected_gene': 'PHLDB1', 'score': 0.77}, {'connected_gene': 'RNU6-1157P', 'score': 0.44}]
chr11 GH11I118409 118409655 118411017 0.52 [{'connected_gene': 'IFT46', 'score': 5.81}, {'connected_gene': 'LOC100131626', 'score': 0.44}, {'connected_gene': 'ENSG00000269944', 'score': 0.44}, {'connected_gene': 'ENSG00000254873', 'score': 0.44}, {'connected_gene': 'ATP5MG', 'score': 0.44}]
chr11 GH11I118424 118424674 118425517 0.63 [{'connected_gene': 'IFT46', 'score': 5.66}, {'connected_gene': 'GC11P118430', 'score': 0.44}, {'connected_gene': 'LOC100131626', 'score': 0.44}, {'connected_gene': 'ATP5MG', 'score': 0.34}]
chr11 GH11I118420 118420321 118422100 0.38 [{'connected_gene': 'IFT46', 'score': 5.54}, {'connected_gene': 'LOC100131626', 'score': 0.77}, {'connected_gene': 'GC11P118430', 'score': 0.44}, {'connected_gene': 'ATP5MG', 'score': 0.34}]
chr11 GH11I118433 118433976 118442200 2.7 [{'connected_gene': 'KMT2A', 'score': 561.41}, {'connected_gene': 'VPS11', 'score': 31.7}, {'connected_gene': 'TMEM25', 'score': 23.66}, {'connected_gene': 'IFT46', 'score': 19.63}, {'connected_gene': 'ARCN1', 'score': 19.21}, {'connected_gene': 'HINFP', 'score': 19.15}, {'connected_gene': 'THY1', 'score': 12.58}, {'connected_gene': 'CCDC84', 'score': 10.81}, {'connected_gene': 'LOC101929089', 'score': 10.61}, {'connected_gene': 'ENSG00000254873', 'score': 10.6}, {'connected_gene': 'ATP5MG', 'score': 10.6}, {'connected_gene': 'FXYD6', 'score': 10.18}, {'connected_gene': 'DSCAML1', 'score': 9.93}, {'connected_gene': 'CCDC153', 'score': 5.08}, {'connected_gene': 'ENSG00000255384', 'score': 0.77}, {'connected_gene': 'GC11M118474', 'score': 0.28}]
chr11 GH11I117997 117997315 118014816 1.75 [{'connected_gene': 'IL10RA', 'score': 30.08}, {'connected_gene': 'ENSG00000254528', 'score': 15.5}, {'connected_gene': 'ARCN1', 'score': 13.3}, {'connected_gene': 'RNF214', 'score': 12.97}, {'connected_gene': 'KMT2A', 'score': 12.55}, {'connected_gene': 'ENSG00000254909', 'score': 12.19}, {'connected_gene': 'UBE4A', 'score': 12.12}, {'connected_gene': 'RPL5P30', 'score': 11.19}, {'connected_gene': 'FXYD2', 'score': 11.07}, {'connected_gene': 'TMPRSS13', 'score': 10.99}, {'connected_gene': 'RPL23AP64', 'score': 10.92}, {'connected_gene': 'BCL9L', 'score': 10.55}, {'connected_gene': 'TMPRSS4', 'score': 10.2}, {'connected_gene': 'FXYD6-FXYD2', 'score': 9.93}, {'connected_gene': 'FXYD6', 'score': 9.93}, {'connected_gene': 'RPS27P19', 'score': 9.72}, {'connected_gene': 'JAML', 'score': 6.88}, {'connected_gene': 'CD3E', 'score': 2.42}, {'connected_gene': 'CD3G', 'score': 2.23}, {'connected_gene': 'MPZL3', 'score': 2.1}, {'connected_gene': 'CD3D', 'score': 1.7}, {'connected_gene': 'ATP5MG', 'score': 1.27}, {'connected_gene': 'GC11P118003', 'score': 0.77}, {'connected_gene': 'GC11P118028', 'score': 0.34}, {'connected_gene': 'SMIM35', 'score': 0.18}]
chr11 GH11I118603 118603661 118613594 2.79 [{'connected_gene': 'PHLDB1', 'score': 557.84}, {'connected_gene': 'IFT46', 'score': 35.41}, {'connected_gene': 'TREHP1', 'score': 34.71}, {'connected_gene': 'LOC105369519', 'score': 22.22}, {'connected_gene': 'KMT2A', 'score': 19.99}, {'connected_gene': 'TREH', 'score': 19.54}, {'connected_gene': 'TRAPPC4', 'score': 12.18}, {'connected_gene': 'ENSG00000255176', 'score': 11.7}, {'connected_gene': 'ARCN1', 'score': 10.74}, {'connected_gene': 'VPS11', 'score': 10.69}, {'connected_gene': 'CCDC84', 'score': 10.19}, {'connected_gene': 'HINFP', 'score': 10.16}, {'connected_gene': 'DPAGT1', 'score': 9.99}, {'connected_gene': 'TTC36', 'score': 9.84}, {'connected_gene': 'ENSG00000255384', 'score': 9.7}, {'connected_gene': 'ENSG00000254873', 'score': 9.41}, {'connected_gene': 'ATP5MG', 'score': 9.41}]
chr11 GH11I118398 118398236 118403361 2.42 [{'connected_gene': 'ATP5MG', 'score': 550.77}, {'connected_gene': 'ENSG00000254873', 'score': 550.77}, {'connected_gene': 'IFT46', 'score': 14.36}, {'connected_gene': 'TMEM25', 'score': 13.16}, {'connected_gene': 'ENSG00000255384', 'score': 11.58}, {'connected_gene': 'KMT2A', 'score': 11.57}, {'connected_gene': 'ARCN1', 'score': 10.61}, {'connected_gene': 'RNF26', 'score': 10.26}, {'connected_gene': 'TTC36', 'score': 10.18}, {'connected_gene': 'FXYD6', 'score': 10.18}, {'connected_gene': 'DSCAML1', 'score': 9.93}, {'connected_gene': 'SLC37A4', 'score': 5.0}, {'connected_gene': 'LOC100131626', 'score': 0.37}, {'connected_gene': 'UBE4A', 'score': 0.26}]
chr11 GH11I118380 118380670 118380839 0.34 [{'connected_gene': 'ATP5MG', 'score': 11.53}, {'connected_gene': 'ENSG00000254873', 'score': 11.53}, {'connected_gene': 'CD3G', 'score': 11.02}, {'connected_gene': 'CD3D', 'score': 11.02}, {'connected_gene': 'ENSG00000255384', 'score': 10.42}, {'connected_gene': 'KMT2A', 'score': 10.41}, {'connected_gene': 'CD3E', 'score': 10.18}, {'connected_gene': 'TTC36', 'score': 10.17}, {'connected_gene': 'LOC101929089', 'score': 9.99}, {'connected_gene': 'TMEM25', 'score': 9.99}, {'connected_gene': 'PHLDB1', 'score': 9.82}, {'connected_gene': 'UBE4A', 'score': 0.34}]
chr11 GH11I118395 118395927 118396808 0.31 [{'connected_gene': 'ATP5MG', 'score': 0.77}, {'connected_gene': 'LOC100131626', 'score': 0.34}, {'connected_gene': 'UBE4A', 'score': 0.28}]
chr11 GH11I118596 118596027 118598373 0.31 [{'connected_gene': 'ENSG00000255176', 'score': 11.39}, {'connected_gene': 'IFT46', 'score': 10.8}, {'connected_gene': 'ARCN1', 'score': 10.8}, {'connected_gene': 'TREH', 'score': 10.8}, {'connected_gene': 'TTC36', 'score': 9.87}, {'connected_gene': 'ATP5MG', 'score': 9.29}, {'connected_gene': 'ENSG00000254873', 'score': 9.29}, {'connected_gene': 'RNU6-1157P', 'score': 0.77}, {'connected_gene': 'PHLDB1', 'score': 0.44}]
chr11 GH11I118442 118442682 118443795 1.14 [{'connected_gene': 'ENSG00000254873', 'score': 10.9}, {'connected_gene': 'ATP5MG', 'score': 10.9}, {'connected_gene': 'LOC101929089', 'score': 10.65}, {'connected_gene': 'TMEM25', 'score': 10.65}, {'connected_gene': 'TTC36', 'score': 9.76}, {'connected_gene': 'KMT2A', 'score': 0.44}, {'connected_gene': 'GC11M118474', 'score': 0.29}]
chr11 GH11I118413 118413397 118416667 1.39 [{'connected_gene': 'ENSG00000269944', 'score': 550.77}, {'connected_gene': 'MPZL2', 'score': 14.05}, {'connected_gene': 'ENSG00000245869', 'score': 13.22}, {'connected_gene': 'BCL9L', 'score': 13.16}, {'connected_gene': 'ARCN1', 'score': 13.06}, {'connected_gene': 'DDX6', 'score': 12.41}, {'connected_gene': 'UBE4A', 'score': 12.26}, {'connected_gene': 'ENSG00000254909', 'score': 11.0}, {'connected_gene': 'RNF26', 'score': 10.28}, {'connected_gene': 'RPL23AP64', 'score': 10.18}, {'connected_gene': 'RPS25', 'score': 10.1}, {'connected_gene': 'SCN2B', 'score': 8.1}, {'connected_gene': 'IFT46', 'score': 6.75}, {'connected_gene': 'LOC100131626', 'score': 0.77}, {'connected_gene': 'ENSG00000254873', 'score': 0.39}, {'connected_gene': 'ATP5MG', 'score': 0.39}]

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