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
ENST00000316199 [[8108055, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110688], [8110888, 8110943], [8111055, 8111158], [8113494, 8113567], [8113847, 8113900]] [[8108188, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110688], [8110888, 8110943], [8111055, 8111158], [8113494, 8113542]]
ENST00000534871 [[8108060, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110685], [8110888, 8110943], [8111055, 8111158], [8113847, 8113899]] [[8108188, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110685], [8110888, 8110943], [8111055, 8111083]]
ENST00000585124 [[8108090, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110685], [8110888, 8110943], [8111055, 8111158], [8113494, 8113567], [8113847, 8113916]] [[8108188, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110685], [8110888, 8110943], [8111055, 8111158], [8113494, 8113542]]
ENST00000584972 [[8108176, 8108362], [8108635, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110685]] [[8108188, 8108362], [8108635, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110685]]
ENST00000578549 [[8108188, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110252], [8110635, 8110685], [8110888, 8110943], [8111055, 8111158], [8113494, 8113542]] [[8108188, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110252], [8110635, 8110685], [8110888, 8110943], [8111055, 8111158], [8113494, 8113542]]
ENST00000535053 [[8108188, 8108362], [8108533, 8108708], [8109808, 8109957], [8110493, 8110688], [8110888, 8110943], [8111055, 8111158], [8113494, 8113542]] [[8109929, 8109957], [8110493, 8110688], [8110888, 8110943], [8111055, 8111158], [8113494, 8113542]]
ENST00000580998 [[8108219, 8108362], [8108533, 8108708], [8109808, 8109957], [8110635, 8110685], [8110888, 8110943], [8111055, 8111158], [8113494, 8113565]] [[8109841, 8109957], [8110635, 8110685], [8110888, 8110943], [8111055, 8111158], [8113494, 8113542]]
ENST00000578753 [[8108278, 8108362], [8108533, 8108708], [8109808, 8110016]] None
ENST00000577833 [[8108582, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110688], [8110888, 8110943], [8111055, 8111219], [8113847, 8113886]] [[8108582, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110688], [8110888, 8110943], [8111055, 8111083]]
ENST00000581511 [[8109808, 8109957], [8110067, 8110206], [8110493, 8110685], [8110888, 8110943], [8111055, 8111158], [8113494, 8113543], [8113847, 8113902]] [[8109808, 8109957], [8110067, 8110206], [8110493, 8110685], [8110888, 8110943], [8111055, 8111158]]
ENST00000580390 [[8109810, 8109957], [8110635, 8110685], [8110888, 8110943], [8111055, 8111543]] None
ENST00000584561 [[8109836, 8109957], [8110057, 8110685], [8110888, 8110943], [8111055, 8111158], [8113494, 8113567], [8113847, 8113877]] None
ENST00000582368 [[8109855, 8109957], [8110067, 8110206], [8110493, 8110685], [8110888, 8110943], [8111055, 8111158], [8113271, 8113373], [8113494, 8113572]] [[8109855, 8109957], [8110067, 8110206], [8110493, 8110685], [8110888, 8110943], [8111055, 8111083]]
ENST00000583915 [[8110559, 8110685], [8110888, 8110943], [8111055, 8111219], [8113847, 8113899]] [[8110559, 8110685], [8110888, 8110943], [8111055, 8111083]]
ENST00000583124 [[8113315, 8113567], [8113847, 8113918]] None
NR_132731 [[8108048, 8108362], [8108533, 8108708], [8109808, 8109957], [8110493, 8110688], [8110888, 8110943], [8111055, 8111158], [8113494, 8113543]] None
NM_001313953 [[8108048, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110252], [8110635, 8110685], [8110888, 8110943], [8111055, 8111158], [8113494, 8113543]] [[8108188, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110252], [8110635, 8110685], [8110888, 8110943], [8111055, 8111158]]
NM_001313951 [[8108048, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110685], [8110888, 8110943], [8111055, 8111158], [8113271, 8113373], [8113494, 8113567]] [[8108188, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110685], [8110888, 8110943], [8111055, 8111083]]
NM_001284526 [[8108048, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110688], [8110888, 8110943], [8111055, 8111158], [8113494, 8113567], [8113847, 8113944]] [[8108188, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110688], [8110888, 8110943], [8111055, 8111158], [8113494, 8113542]]
NM_001313954 [[8108048, 8108362], [8108533, 8108708], [8109808, 8109957], [8110057, 8110206], [8110493, 8110685], [8110888, 8110943], [8111055, 8111158], [8113494, 8113567], [8113847, 8113944]] [[8108188, 8108362], [8108533, 8108708], [8109808, 8109957], [8110057, 8110138]]
NM_004217 [[8108048, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110685], [8110888, 8110943], [8111055, 8111158], [8113494, 8113567], [8113847, 8113944]] [[8108188, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110685], [8110888, 8110943], [8111055, 8111158], [8113494, 8113542]]
NR_132730 [[8108048, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110206], [8110635, 8110685], [8110888, 8110943], [8111055, 8111158], [8113494, 8113567], [8113847, 8113944]] None
NM_001313950 [[8108048, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110685], [8110888, 8110943], [8111055, 8111158], [8113494, 8113543], [8113847, 8113944]] [[8108188, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110685], [8110888, 8110943], [8111055, 8111158]]
NM_001313952 [[8108048, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110688], [8110888, 8110943], [8111055, 8111219], [8113847, 8113944]] [[8108188, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110688], [8110888, 8110943], [8111055, 8111083]]
NM_001256834 [[8108048, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110685], [8110888, 8110943], [8111055, 8111158], [8113847, 8113944]] [[8108188, 8108362], [8108533, 8108708], [8109808, 8109957], [8110067, 8110206], [8110493, 8110685], [8110888, 8110943], [8111055, 8111083]]
NM_001313955 [[8108048, 8108362], [8108533, 8108708], [8109808, 8109957], [8110635, 8110685], [8110888, 8110943], [8111055, 8111158], [8113847, 8113944]] [[8108188, 8108362], [8108533, 8108708], [8109808, 8109957], [8110635, 8110668]]
Promoter
Chrom Start End Description
chr17 8113543 8113572 CAGE_peak_2_at_AURKB_5end
chr17 8113886 8113906 CAGE_peak_1_at_AURKB_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I009157 9157932 9158959 0.38 [{'connected_gene': 'AURKB', 'score': 5.22}, {'connected_gene': 'PIR43665', 'score': 0.39}, {'connected_gene': 'GC17P009124', 'score': 0.29}, {'connected_gene': 'NTN1', 'score': 0.12}]
chr17 GH17I008209 8209127 8211633 2.26 [{'connected_gene': 'AURKB', 'score': 550.77}, {'connected_gene': 'CTC1', 'score': 28.96}, {'connected_gene': 'SNORD10', 'score': 24.43}, {'connected_gene': 'EIF4A1', 'score': 22.93}, {'connected_gene': 'POLR2A', 'score': 21.86}, {'connected_gene': 'DVL2', 'score': 20.76}, {'connected_gene': 'CNTROB', 'score': 20.72}, {'connected_gene': 'SNORA48', 'score': 19.95}, {'connected_gene': 'PFAS', 'score': 18.71}, {'connected_gene': 'KDM6B', 'score': 17.76}, {'connected_gene': 'WRAP53', 'score': 14.25}, {'connected_gene': 'TP53', 'score': 11.03}, {'connected_gene': 'ENSG00000269947', 'score': 10.53}, {'connected_gene': 'PLSCR3', 'score': 10.5}, {'connected_gene': 'PER1', 'score': 10.4}, {'connected_gene': 'MIR324', 'score': 10.4}, {'connected_gene': 'GPS2', 'score': 10.14}, {'connected_gene': 'VAMP2', 'score': 6.38}, {'connected_gene': 'GC17P008255', 'score': 0.44}]
chr17 GH17I008215 8214983 8215132 0.31 [{'connected_gene': 'AURKB', 'score': 0.77}, {'connected_gene': 'GC17M008513', 'score': 0.44}, {'connected_gene': 'TRW-CCA1-1', 'score': 0.44}]
chr17 GH17I008214 8214463 8214492 0.2 [{'connected_gene': 'AURKB', 'score': 0.77}, {'connected_gene': 'GC17M008513', 'score': 0.44}, {'connected_gene': 'TRW-CCA1-1', 'score': 0.44}]
chr17 GH17I008212 8212783 8212932 1.09 [{'connected_gene': 'NEURL4', 'score': 19.19}, {'connected_gene': 'SENP3', 'score': 11.24}, {'connected_gene': 'AURKB', 'score': 0.77}, {'connected_gene': 'GC17M008513', 'score': 0.44}, {'connected_gene': 'TRW-CCA1-1', 'score': 0.44}]
chr17 GH17I008134 8134063 8134081 0.46 [{'connected_gene': 'SNORD118', 'score': 12.12}, {'connected_gene': 'TMEM107', 'score': 12.1}, {'connected_gene': 'AURKB', 'score': 10.52}, {'connected_gene': 'CTC1', 'score': 10.37}, {'connected_gene': 'PFAS', 'score': 10.37}, {'connected_gene': 'TRS-CGA1-1', 'score': 0.77}, {'connected_gene': 'GC17M008512', 'score': 0.77}, {'connected_gene': 'LOC105376799', 'score': 0.44}]
chr17 GH17I008133 8133282 8134003 0.56 [{'connected_gene': 'SNORD118', 'score': 12.47}, {'connected_gene': 'TMEM107', 'score': 12.46}, {'connected_gene': 'BORCS6', 'score': 11.15}, {'connected_gene': 'CHD3', 'score': 10.64}, {'connected_gene': 'AURKB', 'score': 10.52}, {'connected_gene': 'PFAS', 'score': 10.4}, {'connected_gene': 'CTC1', 'score': 10.37}, {'connected_gene': 'ALOX15B', 'score': 10.16}, {'connected_gene': 'ENSG00000226871', 'score': 4.58}, {'connected_gene': 'TRS-CGA1-1', 'score': 0.44}, {'connected_gene': 'LOC105376799', 'score': 0.44}, {'connected_gene': 'GC17M008512', 'score': 0.44}]
chr17 GH17I008326 8326203 8327800 0.77 [{'connected_gene': 'PFAS', 'score': 24.44}, {'connected_gene': 'CTC1', 'score': 23.49}, {'connected_gene': 'CNTROB', 'score': 18.19}, {'connected_gene': 'POLR2A', 'score': 15.11}, {'connected_gene': 'WRAP53', 'score': 14.6}, {'connected_gene': 'ENSG00000265749', 'score': 13.79}, {'connected_gene': 'ODF4', 'score': 12.42}, {'connected_gene': 'KRBA2', 'score': 11.51}, {'connected_gene': 'SLC25A35', 'score': 11.27}, {'connected_gene': 'RANGRF', 'score': 11.25}, {'connected_gene': 'KDM6B', 'score': 10.61}, {'connected_gene': 'SNORD10', 'score': 10.33}, {'connected_gene': 'AURKB', 'score': 10.0}, {'connected_gene': 'RNF222', 'score': 9.71}, {'connected_gene': 'SNORD118', 'score': 9.65}, {'connected_gene': 'TMEM107', 'score': 9.65}, {'connected_gene': 'ENSG00000226871', 'score': 7.89}, {'connected_gene': 'GC17P008331', 'score': 0.77}]
chr17 GH17I008181 8181923 8182172 0.64 [{'connected_gene': 'PER1', 'score': 13.11}, {'connected_gene': 'AURKB', 'score': 11.56}, {'connected_gene': 'HES7', 'score': 11.45}, {'connected_gene': 'LINC00324', 'score': 11.4}, {'connected_gene': 'PIR61027', 'score': 0.77}, {'connected_gene': 'GC17M008517', 'score': 0.77}, {'connected_gene': 'TMEM107', 'score': 0.44}, {'connected_gene': 'LOC105371520', 'score': 0.44}]
chr17 GH17I008182 8182223 8182372 0.59 [{'connected_gene': 'PER1', 'score': 13.11}, {'connected_gene': 'AURKB', 'score': 11.56}, {'connected_gene': 'HES7', 'score': 11.45}, {'connected_gene': 'LINC00324', 'score': 11.4}, {'connected_gene': 'PIR61027', 'score': 0.77}, {'connected_gene': 'GC17M008517', 'score': 0.77}, {'connected_gene': 'TMEM107', 'score': 0.44}, {'connected_gene': 'LOC105371520', 'score': 0.44}]
chr17 GH17I008185 8185400 8191268 2.35 [{'connected_gene': 'TRT-AGT1-1', 'score': 550.77}, {'connected_gene': 'PIR40201', 'score': 550.77}, {'connected_gene': 'BORCS6', 'score': 550.77}, {'connected_gene': 'MIR4521', 'score': 550.77}, {'connected_gene': 'PIR38980', 'score': 550.77}, {'connected_gene': 'TRS-GCT4-3', 'score': 550.77}, {'connected_gene': 'GC17M008515', 'score': 550.77}, {'connected_gene': 'ENSG00000279152', 'score': 550.77}, {'connected_gene': 'PIR38375', 'score': 550.77}, {'connected_gene': 'TRI-AAT5-5', 'score': 550.77}, {'connected_gene': 'PIR49700', 'score': 550.77}, {'connected_gene': 'GC17M008516', 'score': 550.77}, {'connected_gene': 'TRW-CCA3-3', 'score': 550.77}, {'connected_gene': 'DVL2', 'score': 113.24}, {'connected_gene': 'PFAS', 'score': 101.98}, {'connected_gene': 'WRAP53', 'score': 76.31}, {'connected_gene': 'CNTROB', 'score': 74.11}, {'connected_gene': 'CTC1', 'score': 56.83}, {'connected_gene': 'POLR2A', 'score': 54.0}, {'connected_gene': 'ENSG00000265749', 'score': 48.89}, {'connected_gene': 'NEURL4', 'score': 46.36}, {'connected_gene': 'SENP3', 'score': 40.77}, {'connected_gene': 'SNORD10', 'score': 38.11}, {'connected_gene': 'SNORA48', 'score': 31.17}, {'connected_gene': 'KDM6B', 'score': 29.65}, {'connected_gene': 'LOC100996842', 'score': 29.47}, {'connected_gene': 'NLGN2', 'score': 28.82}, {'connected_gene': 'MIR324', 'score': 28.76}, {'connected_gene': 'RPL26', 'score': 28.67}, {'connected_gene': 'ATP1B2', 'score': 23.4}, {'connected_gene': 'CYB5D1', 'score': 23.15}, {'connected_gene': 'EIF4A1', 'score': 20.86}, {'connected_gene': 'PER1', 'score': 19.94}, {'connected_gene': 'PLSCR3', 'score': 19.87}, {'connected_gene': 'VAMP2', 'score': 17.0}, {'connected_gene': 'ELP5', 'score': 15.33}, {'connected_gene': 'DLG4', 'score': 13.31}, {'connected_gene': 'AURKB', 'score': 12.64}, {'connected_gene': 'LINC00324', 'score': 12.22}, {'connected_gene': 'ENSG00000269947', 'score': 11.21}, {'connected_gene': 'KCNAB3', 'score': 10.61}, {'connected_gene': 'KCTD11', 'score': 10.43}, {'connected_gene': 'GPS2', 'score': 10.14}, {'connected_gene': 'SLC25A35', 'score': 10.11}, {'connected_gene': 'SHBG', 'score': 10.08}, {'connected_gene': 'ZBTB4', 'score': 9.99}, {'connected_gene': 'PIR61027', 'score': 0.77}, {'connected_gene': 'GC17M008517', 'score': 0.77}]
chr17 GH17I008218 8218863 8219012 0.85 [{'connected_gene': 'GC17M008513', 'score': 0.77}, {'connected_gene': 'TRW-CCA1-1', 'score': 0.77}, {'connected_gene': 'AURKB', 'score': 0.44}]
chr17 GH17I008219 8218172 8218742 1.05 [{'connected_gene': 'GC17M008513', 'score': 0.77}, {'connected_gene': 'TRW-CCA1-1', 'score': 0.77}, {'connected_gene': 'AURKB', 'score': 0.44}]

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