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
ENST00000395064 [[33422355, 33422552], [33422806, 33425325]] [[33422877, 33424299]]
NM_152735 [[33422355, 33422552], [33422806, 33425321]] [[33422877, 33424299]]
NM_152735 [[4902599, 4902796], [4903050, 4905565]] [[4903121, 4904543]]
Promoter
Chrom Start End Description
chr6 33422343 33422394 CAGE_peak_1_at_ZBTB9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I034072 34072630 34076591 0.83 [{'connected_gene': 'TAF11', 'score': 102.91}, {'connected_gene': 'LEMD2', 'score': 99.1}, {'connected_gene': 'HCG25', 'score': 78.71}, {'connected_gene': 'RING1', 'score': 68.29}, {'connected_gene': 'VPS52', 'score': 60.2}, {'connected_gene': 'DAXX', 'score': 55.91}, {'connected_gene': 'RXRB', 'score': 48.07}, {'connected_gene': 'WDR46', 'score': 47.59}, {'connected_gene': 'RGL2', 'score': 35.92}, {'connected_gene': 'RPS10', 'score': 21.97}, {'connected_gene': 'SYNGAP1', 'score': 18.86}, {'connected_gene': 'LOC105375022', 'score': 12.23}, {'connected_gene': 'ITPR3', 'score': 11.79}, {'connected_gene': 'SMIM29', 'score': 11.65}, {'connected_gene': 'B3GALT4', 'score': 11.63}, {'connected_gene': 'PHF1', 'score': 11.59}, {'connected_gene': 'MIR1275', 'score': 10.89}, {'connected_gene': 'RPS18', 'score': 10.88}, {'connected_gene': 'RPL35P2', 'score': 10.65}, {'connected_gene': 'RNY4P10', 'score': 10.56}, {'connected_gene': 'SLC39A7', 'score': 10.23}, {'connected_gene': 'NUDT3', 'score': 10.18}, {'connected_gene': 'ZBTB9', 'score': 9.85}, {'connected_gene': 'KIFC1', 'score': 9.69}, {'connected_gene': 'HSD17B8', 'score': 5.5}, {'connected_gene': 'PIR53321', 'score': 0.22}, {'connected_gene': 'GRM4', 'score': 0.18}]
chr6 GH06I034068 34068284 34072572 0.86 [{'connected_gene': 'RING1', 'score': 88.88}, {'connected_gene': 'TAF11', 'score': 83.75}, {'connected_gene': 'HCG25', 'score': 73.23}, {'connected_gene': 'LEMD2', 'score': 68.71}, {'connected_gene': 'VPS52', 'score': 60.29}, {'connected_gene': 'RXRB', 'score': 48.26}, {'connected_gene': 'DAXX', 'score': 43.32}, {'connected_gene': 'PHF1', 'score': 29.53}, {'connected_gene': 'ITPR3', 'score': 24.57}, {'connected_gene': 'KIFC1', 'score': 21.13}, {'connected_gene': 'WDR46', 'score': 20.77}, {'connected_gene': 'RPS10', 'score': 20.14}, {'connected_gene': 'SYNGAP1', 'score': 18.86}, {'connected_gene': 'RGL2', 'score': 13.73}, {'connected_gene': 'LOC105375022', 'score': 12.23}, {'connected_gene': 'SMIM29', 'score': 11.65}, {'connected_gene': 'B3GALT4', 'score': 11.39}, {'connected_gene': 'SLC39A7', 'score': 10.36}, {'connected_gene': 'NUDT3', 'score': 10.18}, {'connected_gene': 'ZBTB9', 'score': 9.85}, {'connected_gene': 'HSD17B8', 'score': 4.92}, {'connected_gene': 'PIR53321', 'score': 0.23}, {'connected_gene': 'GRM4', 'score': 0.17}]
chr6 GH06I033430 33430170 33434669 1.36 [{'connected_gene': 'RING1', 'score': 48.34}, {'connected_gene': 'HCG25', 'score': 39.8}, {'connected_gene': 'ZBTB9', 'score': 31.51}, {'connected_gene': 'DAXX', 'score': 25.05}, {'connected_gene': 'PHF1', 'score': 22.64}, {'connected_gene': 'SYNGAP1', 'score': 19.36}, {'connected_gene': 'LOC105375022', 'score': 12.29}, {'connected_gene': 'LEMD2', 'score': 12.04}, {'connected_gene': 'VPS52', 'score': 11.82}, {'connected_gene': 'SMIM29', 'score': 11.58}, {'connected_gene': 'KIFC1', 'score': 10.99}, {'connected_gene': 'RPL35AP4', 'score': 10.94}, {'connected_gene': 'RXRB', 'score': 10.49}, {'connected_gene': 'HLA-DMA', 'score': 10.22}, {'connected_gene': 'NUDT3', 'score': 10.15}, {'connected_gene': 'CUTA', 'score': 10.11}, {'connected_gene': 'BRD2', 'score': 9.79}, {'connected_gene': 'BAK1', 'score': 9.02}, {'connected_gene': 'HLA-DPB1', 'score': 8.05}, {'connected_gene': 'ITPR3', 'score': 7.5}, {'connected_gene': 'TAPBP', 'score': 5.46}, {'connected_gene': 'MIR5004', 'score': 0.44}]
chr6 GH06I033449 33449801 33451000 0.31 [{'connected_gene': 'CUTA', 'score': 10.51}, {'connected_gene': 'ZBTB9', 'score': 0.77}, {'connected_gene': 'ENSG00000274259', 'score': 0.77}, {'connected_gene': 'MIR5004', 'score': 0.39}, {'connected_gene': 'SYNGAP1', 'score': 0.29}]
chr6 GH06I032685 32685207 32687026 1.25 [{'connected_gene': 'HLA-DQB1', 'score': 76.59}, {'connected_gene': 'HLA-DQA2', 'score': 32.86}, {'connected_gene': 'HLA-DQB1-AS1', 'score': 19.71}, {'connected_gene': 'CYP21A1P', 'score': 18.27}, {'connected_gene': 'HLA-DQA1', 'score': 18.06}, {'connected_gene': 'HLA-DRB6', 'score': 15.24}, {'connected_gene': 'ZBTB9', 'score': 13.83}, {'connected_gene': 'LOC105375022', 'score': 10.13}, {'connected_gene': 'HLA-DOB', 'score': 10.13}, {'connected_gene': 'HLA-DOA', 'score': 9.41}, {'connected_gene': 'HLA-DPB1', 'score': 8.6}, {'connected_gene': 'HLA-DRB5', 'score': 8.26}, {'connected_gene': 'HLA-DPA1', 'score': 7.37}, {'connected_gene': 'HLA-DRA', 'score': 6.13}, {'connected_gene': 'HLA-DQB2', 'score': 5.72}, {'connected_gene': 'HCG23', 'score': 5.21}, {'connected_gene': 'HLA-DRB1', 'score': 4.44}, {'connected_gene': 'HLA-DMA', 'score': 4.18}, {'connected_gene': 'HLA-DMB', 'score': 3.96}, {'connected_gene': 'TAP2', 'score': 1.65}, {'connected_gene': 'BRD2', 'score': 1.64}, {'connected_gene': 'PSMB9', 'score': 1.41}, {'connected_gene': 'PSMB8', 'score': 1.36}, {'connected_gene': 'MTCO3P1', 'score': 0.34}]
chr6 GH06I033373 33373915 33377033 1.14 [{'connected_gene': 'DAXX', 'score': 16.16}, {'connected_gene': 'PHF1', 'score': 11.4}, {'connected_gene': 'ZBTB22', 'score': 11.21}, {'connected_gene': 'TAPBP', 'score': 11.2}, {'connected_gene': 'RGL2', 'score': 10.62}, {'connected_gene': 'WDR46', 'score': 10.61}, {'connected_gene': 'PFDN6', 'score': 10.61}, {'connected_gene': 'ZBTB9', 'score': 10.43}, {'connected_gene': 'LYPLA2P1', 'score': 0.44}, {'connected_gene': 'RPL35AP4', 'score': 0.39}]
chr6 GH06I033423 33423991 33429979 2.07 [{'connected_gene': 'DAXX', 'score': 51.56}, {'connected_gene': 'LEMD2', 'score': 41.39}, {'connected_gene': 'BRD2', 'score': 37.28}, {'connected_gene': 'WDR46', 'score': 30.94}, {'connected_gene': 'RXRB', 'score': 26.96}, {'connected_gene': 'VPS52', 'score': 25.56}, {'connected_gene': 'RGL2', 'score': 23.52}, {'connected_gene': 'SYNGAP1', 'score': 23.26}, {'connected_gene': 'KIFC1', 'score': 21.57}, {'connected_gene': 'RPS10', 'score': 11.8}, {'connected_gene': 'ZBTB9', 'score': 11.67}, {'connected_gene': 'SMIM29', 'score': 11.58}, {'connected_gene': 'RPL35AP4', 'score': 11.45}, {'connected_gene': 'HCG25', 'score': 11.07}, {'connected_gene': 'CUTA', 'score': 10.58}, {'connected_gene': 'NUDT3', 'score': 10.15}, {'connected_gene': 'B3GALT4', 'score': 10.11}, {'connected_gene': 'RPS18', 'score': 9.98}, {'connected_gene': 'ITPR3', 'score': 9.97}, {'connected_gene': 'BAK1', 'score': 9.01}, {'connected_gene': 'MIR5004', 'score': 0.39}]
chr6 GH06I033903 33903579 33907737 1.38 [{'connected_gene': 'GC06P042119', 'score': 550.77}, {'connected_gene': 'PIR38426', 'score': 550.77}, {'connected_gene': 'PIR37507', 'score': 550.77}, {'connected_gene': 'GC06P041852', 'score': 550.77}, {'connected_gene': 'GC06P041869', 'score': 550.77}, {'connected_gene': 'GC06P042165', 'score': 550.77}, {'connected_gene': 'GC06P042016', 'score': 550.77}, {'connected_gene': 'PIR47695', 'score': 550.77}, {'connected_gene': 'GC06P041777', 'score': 550.77}, {'connected_gene': 'PIR58662', 'score': 550.77}, {'connected_gene': 'PIR44478', 'score': 550.77}, {'connected_gene': 'GC06P041848', 'score': 550.77}, {'connected_gene': 'PIR34947', 'score': 550.77}, {'connected_gene': 'GC06P042130', 'score': 550.77}, {'connected_gene': 'GC06P041882', 'score': 550.77}, {'connected_gene': 'GC06P042102', 'score': 550.77}, {'connected_gene': 'GC06P042002', 'score': 550.77}, {'connected_gene': 'PIR50195', 'score': 550.77}, {'connected_gene': 'GC06P042167', 'score': 550.77}, {'connected_gene': 'GC06P042271', 'score': 550.77}, {'connected_gene': 'GC06P042219', 'score': 550.77}, {'connected_gene': 'PIR35104', 'score': 550.77}, {'connected_gene': 'PIR46246', 'score': 550.77}, {'connected_gene': 'GC06P041786', 'score': 550.77}, {'connected_gene': 'PIR58737', 'score': 550.77}, {'connected_gene': 'GC06P042376', 'score': 550.77}, {'connected_gene': 'PIR59658', 'score': 550.77}, {'connected_gene': 'PIR44971', 'score': 550.77}, {'connected_gene': 'PIR44340', 'score': 550.77}, {'connected_gene': 'PIR53953', 'score': 550.77}, {'connected_gene': 'PIR50783', 'score': 550.77}, {'connected_gene': 'PIR47334', 'score': 550.77}, {'connected_gene': 'GC06P042199', 'score': 550.77}, {'connected_gene': 'GC06P041985', 'score': 550.77}, {'connected_gene': 'PIR39080', 'score': 550.77}, {'connected_gene': 'PIR34338', 'score': 550.77}, {'connected_gene': 'GC06P041861', 'score': 550.77}, {'connected_gene': 'PIR52965', 'score': 550.77}, {'connected_gene': 'PIR36984', 'score': 550.77}, {'connected_gene': 'GC06P041971', 'score': 550.77}, {'connected_gene': 'GC06P041878', 'score': 550.77}, {'connected_gene': 'PIR59967', 'score': 550.77}, {'connected_gene': 'PIR47198', 'score': 550.77}, {'connected_gene': 'GC06P042296', 'score': 550.77}, {'connected_gene': 'GC06P042142', 'score': 550.77}, {'connected_gene': 'GC06P042175', 'score': 550.77}, {'connected_gene': 'GC06P041817', 'score': 550.77}, {'connected_gene': 'GC06P041916', 'score': 550.77}, {'connected_gene': 'PIR56956', 'score': 550.77}, {'connected_gene': 'GC06P041928', 'score': 550.77}, {'connected_gene': 'GC06P042120', 'score': 550.77}, {'connected_gene': 'PIR57665', 'score': 550.77}, {'connected_gene': 'GC06P042100', 'score': 550.77}, {'connected_gene': 'PIR39636', 'score': 550.77}, {'connected_gene': 'PIR37683', 'score': 550.77}, {'connected_gene': 'GC06P042366', 'score': 550.77}, {'connected_gene': 'GC06P041770', 'score': 550.77}, {'connected_gene': 'GC06P041972', 'score': 550.77}, {'connected_gene': 'PIR49353', 'score': 550.77}, {'connected_gene': 'GC06P041970', 'score': 550.77}, {'connected_gene': 'GC06P041944', 'score': 550.77}, {'connected_gene': 'GC06P041964', 'score': 550.77}, {'connected_gene': 'PIR56867', 'score': 550.77}, {'connected_gene': 'PIR43986', 'score': 550.77}, {'connected_gene': 'GC06P042337', 'score': 550.77}, {'connected_gene': 'GC06P042370', 'score': 550.77}, {'connected_gene': 'PIR31508', 'score': 550.77}, {'connected_gene': 'GC06P042236', 'score': 550.77}, {'connected_gene': 'PIR45473', 'score': 550.77}, {'connected_gene': 'GC06P042185', 'score': 550.77}, {'connected_gene': 'GC06P042160', 'score': 550.77}, {'connected_gene': 'PIR43210', 'score': 550.77}, {'connected_gene': 'GC06P042047', 'score': 550.77}, {'connected_gene': 'PIR61692', 'score': 550.77}, {'connected_gene': 'GC06P041889', 'score': 550.77}, {'connected_gene': 'GC06P042284', 'score': 550.77}, {'connected_gene': 'GC06P042276', 'score': 550.77}, {'connected_gene': 'PIR44598', 'score': 550.77}, {'connected_gene': 'PIR62644', 'score': 550.77}, {'connected_gene': 'GC06P042362', 'score': 550.77}, {'connected_gene': 'GC06P041789', 'score': 550.77}, {'connected_gene': 'GC06P042308', 'score': 550.77}, {'connected_gene': 'PIR57248', 'score': 550.77}, {'connected_gene': 'GC06P041922', 'score': 550.77}, {'connected_gene': 'GC06P042087', 'score': 550.77}, {'connected_gene': 'PIR32544', 'score': 550.77}, {'connected_gene': 'GC06P041803', 'score': 550.77}, {'connected_gene': 'PIR50868', 'score': 550.77}, {'connected_gene': 'GC06P042342', 'score': 550.77}, {'connected_gene': 'GC06P041945', 'score': 550.77}, {'connected_gene': 'GC06P042356', 'score': 550.77}, {'connected_gene': 'PIR41719', 'score': 550.77}, {'connected_gene': 'GC06P042200', 'score': 550.77}, {'connected_gene': 'GC06P041904', 'score': 550.77}, {'connected_gene': 'GC06P041990', 'score': 550.77}, {'connected_gene': 'GC06P042111', 'score': 550.77}, {'connected_gene': 'GC06P041951', 'score': 550.77}, {'connected_gene': 'GC06P042319', 'score': 550.77}, {'connected_gene': 'GC06P041814', 'score': 550.77}, {'connected_gene': 'GC06P042023', 'score': 550.77}, {'connected_gene': 'GC06P041806', 'score': 550.77}, {'connected_gene': 'PIR59977', 'score': 550.77}, {'connected_gene': 'GC06P042024', 'score': 550.77}, {'connected_gene': 'PIR45181', 'score': 550.77}, {'connected_gene': 'GC06P042220', 'score': 550.77}, {'connected_gene': 'PIR42025', 'score': 550.77}, {'connected_gene': 'GC06P042029', 'score': 550.77}, {'connected_gene': 'GC06P042129', 'score': 550.77}, {'connected_gene': 'PIR59483', 'score': 550.77}, {'connected_gene': 'GC06P042243', 'score': 550.77}, {'connected_gene': 'GC06P042131', 'score': 550.77}, {'connected_gene': 'PIR47778', 'score': 550.77}, {'connected_gene': 'PIR50736', 'score': 550.77}, {'connected_gene': 'PIR44091', 'score': 550.77}, {'connected_gene': 'PIR36918', 'score': 550.77}, {'connected_gene': 'GC06P042094', 'score': 550.77}, {'connected_gene': 'PIR38830', 'score': 550.77}, {'connected_gene': 'GC06P041917', 'score': 550.77}, {'connected_gene': 'PIR51748', 'score': 550.77}, {'connected_gene': 'GC06P042348', 'score': 550.77}, {'connected_gene': 'GC06P041959', 'score': 550.77}, {'connected_gene': 'PIR36551', 'score': 550.77}, {'connected_gene': 'GC06P042096', 'score': 550.77}, {'connected_gene': 'PIR31973', 'score': 550.77}, {'connected_gene': 'PIR44216', 'score': 550.77}, {'connected_gene': 'PIR37708', 'score': 550.77}, {'connected_gene': 'GC06P041808', 'score': 550.77}, {'connected_gene': 'PIR41381', 'score': 550.77}, {'connected_gene': 'GC06P042133', 'score': 550.77}, {'connected_gene': 'GC06P041872', 'score': 550.77}, {'connected_gene': 'PIR46906', 'score': 550.77}, {'connected_gene': 'PIR58172', 'score': 550.77}, {'connected_gene': 'PIR45913', 'score': 550.77}, {'connected_gene': 'PIR32738', 'score': 550.77}, {'connected_gene': 'GC06P042150', 'score': 550.77}, {'connected_gene': 'PIR62297', 'score': 550.77}, {'connected_gene': 'GC06P042101', 'score': 550.77}, {'connected_gene': 'GC06P041855', 'score': 550.77}, {'connected_gene': 'GC06P042021', 'score': 550.77}, {'connected_gene': 'PIR43069', 'score': 550.77}, {'connected_gene': 'GC06P041991', 'score': 550.77}, {'connected_gene': 'GC06P042171', 'score': 550.77}, {'connected_gene': 'GC06P041828', 'score': 550.77}, {'connected_gene': 'PIR47154', 'score': 550.77}, {'connected_gene': 'PIR58830', 'score': 550.77}, {'connected_gene': 'PIR47322', 'score': 550.77}, {'connected_gene': 'GC06P042006', 'score': 550.77}, {'connected_gene': 'GC06P042162', 'score': 550.77}, {'connected_gene': 'GC06P042066', 'score': 550.77}, {'connected_gene': 'PIR62271', 'score': 550.77}, {'connected_gene': 'PIR39721', 'score': 550.77}, {'connected_gene': 'PIR58441', 'score': 550.77}, {'connected_gene': 'GC06P042074', 'score': 550.77}, {'connected_gene': 'GC06P041995', 'score': 550.77}, {'connected_gene': 'GC06P042122', 'score': 550.77}, {'connected_gene': 'GC06P041968', 'score': 550.77}, {'connected_gene': 'GC06P041849', 'score': 550.77}, {'connected_gene': 'GC06P042346', 'score': 550.77}, {'connected_gene': 'GC06P042043', 'score': 550.77}, {'connected_gene': 'PIR38320', 'score': 550.77}, {'connected_gene': 'PIR50183', 'score': 550.77}, {'connected_gene': 'PIR59118', 'score': 550.77}, {'connected_gene': 'GC06P041778', 'score': 550.77}, {'connected_gene': 'GC06P042141', 'score': 550.77}, {'connected_gene': 'PIR40469', 'score': 550.77}, {'connected_gene': 'PIR60324', 'score': 550.77}, {'connected_gene': 'GC06P041875', 'score': 550.77}, {'connected_gene': 'PIR43776', 'score': 550.77}, {'connected_gene': 'PIR48373', 'score': 550.77}, {'connected_gene': 'GC06P041865', 'score': 550.77}, {'connected_gene': 'GC06P042012', 'score': 550.77}, {'connected_gene': 'PIR38478', 'score': 550.77}, {'connected_gene': 'GC06P041807', 'score': 550.77}, {'connected_gene': 'PIR47785', 'score': 550.77}, {'connected_gene': 'GC06P041851', 'score': 550.77}, {'connected_gene': 'RPL35P2', 'score': 5.34}, {'connected_gene': 'PHF1', 'score': 3.09}, {'connected_gene': 'ZBTB9', 'score': 1.34}, {'connected_gene': 'LEMD2', 'score': 1.22}, {'connected_gene': 'PIR32393', 'score': 0.77}, {'connected_gene': 'GC06P041799', 'score': 0.77}, {'connected_gene': 'GC06P041965', 'score': 0.77}, {'connected_gene': 'PIR41846', 'score': 0.77}, {'connected_gene': 'PIR35229', 'score': 0.77}, {'connected_gene': 'ENSG00000233183', 'score': 0.39}, {'connected_gene': 'LOC105375026', 'score': 0.39}, {'connected_gene': 'PIRC25', 'score': 0.28}, {'connected_gene': 'PIRC26', 'score': 0.25}]
chr6 GH06I033548 33548667 33549917 0.38 [{'connected_gene': 'GC06P033549', 'score': 550.77}, {'connected_gene': 'BAK1', 'score': 27.35}, {'connected_gene': 'ZBTB9', 'score': 11.14}, {'connected_gene': 'IP6K3', 'score': 10.01}, {'connected_gene': 'GGNBP1', 'score': 0.44}, {'connected_gene': 'RN7SL26P', 'score': 0.44}]
chr6 GH06I033452 33452645 33455498 2.06 [{'connected_gene': 'ENSG00000274259', 'score': 550.77}, {'connected_gene': 'ZBTB9', 'score': 550.77}, {'connected_gene': 'DAXX', 'score': 31.73}, {'connected_gene': 'BRD2', 'score': 20.01}, {'connected_gene': 'VPS52', 'score': 13.25}, {'connected_gene': 'WDR46', 'score': 12.68}, {'connected_gene': 'RPL35P2', 'score': 12.36}, {'connected_gene': 'CUTA', 'score': 10.49}, {'connected_gene': 'RPS10', 'score': 10.13}, {'connected_gene': 'BAK1', 'score': 9.04}, {'connected_gene': 'HLA-DPB1', 'score': 7.98}, {'connected_gene': 'HLA-DMA', 'score': 5.85}, {'connected_gene': 'HLA-DQA1', 'score': 4.28}, {'connected_gene': 'SYNGAP1', 'score': 0.29}]

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