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
ENST00000458258 [[114980714, 114986263], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115038123, 115038293], [115060120, 115060196], [115095063, 115095123]] [[114986130, 114986263], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115038123, 115038293], [115060120, 115060196], [115095063, 115095123]]
ENST00000334318 [[114980714, 114986263], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115038123, 115038293], [115060111, 115060196], [115092720, 115092754], [115095749, 115095944]] [[114986130, 114986263], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115038123, 115038293], [115060111, 115060196], [115092720, 115092754], [115095749, 115095757]]
ENST00000374257 [[114980714, 114986263], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115038123, 115038293], [115060111, 115060196], [115095749, 115095947]] [[114986130, 114986263], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115038123, 115038293], [115060111, 115060145]]
ENST00000374255 [[114984524, 114986263], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115038123, 115038293], [115060120, 115060196], [115092720, 115092754], [115095749, 115095905]] [[114986130, 114986263], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115038123, 115038293], [115060120, 115060196], [115092720, 115092754], [115095749, 115095757]]
ENST00000343327 [[114984940, 114986263], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115060111, 115060196], [115095749, 115095858]] [[114986130, 114986263], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115060111, 115060114]]
ENST00000487997 [[115024714, 115024879], [115030328, 115030475], [115095749, 115095826]] None
ENST00000210227 [[115024784, 115024879], [115030328, 115030475], [115038123, 115038293], [115060120, 115060196], [115095063, 115095309]] [[115024784, 115024879], [115030328, 115030475], [115038123, 115038293], [115060120, 115060196], [115095063, 115095123]]
ENST00000450374 [[115038189, 115038293], [115060111, 115060196], [115092720, 115092754], [115095749, 115095894]] [[115038189, 115038293], [115060111, 115060196], [115092720, 115092754], [115095749, 115095757]]
NM_001244898 [[114979994, 114986263], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115038123, 115038293], [115060120, 115060196], [115095063, 115095306]] [[114986130, 114986263], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115038123, 115038293], [115060120, 115060196], [115095063, 115095123]]
NM_001163790 [[114979994, 114986263], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115038123, 115038293], [115060111, 115060196], [115092720, 115092754], [115095749, 115095944]] [[114986130, 114986263], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115038123, 115038293], [115060111, 115060196], [115092720, 115092754], [115095749, 115095757]]
NM_005156 [[114979994, 114986263], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115038123, 115038293], [115060120, 115060196], [115092720, 115092754], [115095749, 115095944]] [[114986130, 114986263], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115038123, 115038293], [115060120, 115060196], [115092720, 115092754], [115095749, 115095757]]
NM_001163788 [[114979994, 114986263], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115038123, 115038293], [115060111, 115060196], [115095749, 115095944]] [[114986130, 114986263], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115038123, 115038293], [115060111, 115060145]]
NM_001244897 [[114979994, 114982653], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115038123, 115038293], [115060111, 115060196], [115095749, 115095944]] [[114982451, 114982653], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115038123, 115038293], [115060111, 115060145]]
NM_001244896 [[114979994, 114986263], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115060111, 115060196], [115095749, 115095944]] [[114986130, 114986263], [114986412, 114986490], [114989690, 114989907], [114990659, 114990752], [114993659, 114993693], [114994378, 114994518], [114997099, 114997177], [115013208, 115013383], [115014957, 115015068], [115024714, 115024879], [115030328, 115030475], [115060111, 115060114]]
Promoter
Chrom Start End Description
chr9 115095143 115095175 CAGE_peak_9_at_PTBP3_5end
chr9 115095229 115095316 CAGE_peak_3_at_PTBP3_5end
chr9 115095851 115095871 CAGE_peak_2_at_PTBP3_5end
chr9 115095883 115095932 CAGE_peak_1_at_PTBP3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I112330 112330524 112335139 2.05 [{'connected_gene': 'PTBP3', 'score': 550.77}, {'connected_gene': 'SUSD1', 'score': 23.1}, {'connected_gene': 'PRPF4', 'score': 16.02}, {'connected_gene': 'RPL29P20', 'score': 10.73}, {'connected_gene': 'RPL32P22', 'score': 10.08}, {'connected_gene': 'HSDL2', 'score': 8.4}, {'connected_gene': 'HSPE1P28', 'score': 0.23}]
chr9 GH09I112310 112310819 112311151 0.49 [{'connected_gene': 'PTBP3', 'score': 13.04}, {'connected_gene': 'SUSD1', 'score': 11.57}, {'connected_gene': 'RPL29P20', 'score': 11.57}, {'connected_gene': 'HSPE1P28', 'score': 0.31}]
chr9 GH09I112331 112330208 112330267 0.68 [{'connected_gene': 'PTBP3', 'score': 550.77}, {'connected_gene': 'SUSD1', 'score': 10.73}, {'connected_gene': 'RPL29P20', 'score': 10.73}, {'connected_gene': 'HSPE1P28', 'score': 0.25}]
chr9 GH09I112312 112312801 112313000 0.2 [{'connected_gene': 'PTBP3', 'score': 13.04}, {'connected_gene': 'SUSD1', 'score': 11.57}, {'connected_gene': 'RPL29P20', 'score': 11.57}, {'connected_gene': 'HSPE1P28', 'score': 0.29}]
chr9 GH09I112313 112313201 112313400 0.38 [{'connected_gene': 'PTBP3', 'score': 13.04}, {'connected_gene': 'SUSD1', 'score': 11.57}, {'connected_gene': 'RPL29P20', 'score': 11.57}, {'connected_gene': 'HSPE1P28', 'score': 0.29}]
chr9 GH09I112305 112305195 112305280 0.23 [{'connected_gene': 'PTBP3', 'score': 3.32}, {'connected_gene': 'SNX30', 'score': 1.76}, {'connected_gene': 'HSDL2', 'score': 1.46}, {'connected_gene': 'KIAA1958', 'score': 1.4}, {'connected_gene': 'HSPE1P28', 'score': 0.34}]
chr9 GH09I113274 113274305 113276814 2.32 [{'connected_gene': 'PRPF4', 'score': 610.94}, {'connected_gene': 'CDC26', 'score': 587.44}, {'connected_gene': 'PIR61584', 'score': 550.77}, {'connected_gene': 'GC09P114623', 'score': 550.77}, {'connected_gene': 'WDR31', 'score': 13.71}, {'connected_gene': 'FKBP15', 'score': 11.24}, {'connected_gene': 'PTBP3', 'score': 9.99}, {'connected_gene': 'SLC31A2', 'score': 6.67}, {'connected_gene': 'RGS3', 'score': 2.62}]
chr9 GH09I112376 112376964 112381725 2.07 [{'connected_gene': 'HSDL2', 'score': 595.2}, {'connected_gene': 'GC09M112376', 'score': 550.77}, {'connected_gene': 'PTBP3', 'score': 15.79}, {'connected_gene': 'PRPF4', 'score': 13.36}, {'connected_gene': 'UGCG', 'score': 11.07}, {'connected_gene': 'FKBP15', 'score': 11.05}, {'connected_gene': 'SUSD1', 'score': 6.4}, {'connected_gene': 'RPL32P22', 'score': 0.37}]
chr9 GH09I112347 112347948 112349638 1 [{'connected_gene': 'HSDL2', 'score': 9.98}, {'connected_gene': 'GC09M112353', 'score': 0.77}, {'connected_gene': 'PTBP3', 'score': 0.37}]
chr9 GH09I112327 112327001 112327200 0.2 [{'connected_gene': 'HSDL2', 'score': 10.99}, {'connected_gene': 'SUSD1', 'score': 10.88}, {'connected_gene': 'RPL29P20', 'score': 10.88}, {'connected_gene': 'SNX30', 'score': 9.75}, {'connected_gene': 'ENSG00000226609', 'score': 9.75}, {'connected_gene': 'PTBP3', 'score': 0.44}, {'connected_gene': 'HSPE1P28', 'score': 0.25}]
chr9 GH09I112325 112324401 112324600 0.31 [{'connected_gene': 'HSDL2', 'score': 10.98}, {'connected_gene': 'SUSD1', 'score': 10.89}, {'connected_gene': 'RPL29P20', 'score': 10.88}, {'connected_gene': 'SNX30', 'score': 9.74}, {'connected_gene': 'ENSG00000226609', 'score': 9.74}, {'connected_gene': 'PTBP3', 'score': 0.44}, {'connected_gene': 'HSPE1P28', 'score': 0.26}]
chr9 GH09I112336 112336227 112339298 0.97 [{'connected_gene': 'ZFP37', 'score': 20.11}, {'connected_gene': 'SUSD1', 'score': 18.28}, {'connected_gene': 'ZNF483', 'score': 15.96}, {'connected_gene': 'HSDL2', 'score': 7.7}, {'connected_gene': 'PTBP3', 'score': 0.77}, {'connected_gene': 'GC09M112353', 'score': 0.37}]
chr9 GH09I112308 112308321 112309100 0.57 [{'connected_gene': 'SUSD1', 'score': 23.89}, {'connected_gene': 'PTBP3', 'score': 13.04}, {'connected_gene': 'RPL29P20', 'score': 11.57}, {'connected_gene': 'HSPE1P28', 'score': 0.31}]
chr9 GH09I112341 112341341 112342494 0.79 [{'connected_gene': 'SUSD1', 'score': 18.22}, {'connected_gene': 'PTBP3', 'score': 0.44}, {'connected_gene': 'GC09M112353', 'score': 0.39}]
chr9 GH09I112324 112324761 112326400 0.74 [{'connected_gene': 'SUSD1', 'score': 28.8}, {'connected_gene': 'HSDL2', 'score': 19.23}, {'connected_gene': 'PRPF4', 'score': 12.37}, {'connected_gene': 'RPL29P20', 'score': 10.88}, {'connected_gene': 'DNAJC25', 'score': 9.77}, {'connected_gene': 'SNX30', 'score': 9.75}, {'connected_gene': 'ENSG00000226609', 'score': 9.75}, {'connected_gene': 'PTBP3', 'score': 0.44}, {'connected_gene': 'HSPE1P28', 'score': 0.26}]
chr9 GH09I112269 112269396 112269786 0.26 [{'connected_gene': 'SUSD1', 'score': 20.48}, {'connected_gene': 'KIAA1958', 'score': 1.26}, {'connected_gene': 'RN7SL430P', 'score': 0.77}, {'connected_gene': 'RNA5SP295', 'score': 0.37}, {'connected_gene': 'PTBP3', 'score': 0.21}]
chr9 GH09I112328 112327841 112327990 0.43 [{'connected_gene': 'SUSD1', 'score': 11.04}, {'connected_gene': 'RPL29P20', 'score': 11.04}, {'connected_gene': 'PTBP3', 'score': 0.44}, {'connected_gene': 'HSPE1P28', 'score': 0.25}]
chr9 GH09I112329 112328401 112328800 0.6 [{'connected_gene': 'SUSD1', 'score': 11.04}, {'connected_gene': 'RPL29P20', 'score': 11.04}, {'connected_gene': 'PTBP3', 'score': 0.44}, {'connected_gene': 'HSPE1P28', 'score': 0.25}]
chr9 GH09I112299 112299201 112300440 0.74 [{'connected_gene': 'SUSD1', 'score': 23.77}, {'connected_gene': 'RPL29P20', 'score': 11.67}, {'connected_gene': 'HSPE1P28', 'score': 0.37}, {'connected_gene': 'PTBP3', 'score': 0.29}]
chr9 GH09I112233 112233512 112234490 0.72 [{'connected_gene': 'SUSD1', 'score': 29.3}, {'connected_gene': 'RPL29P20', 'score': 10.78}, {'connected_gene': 'RN7SL57P', 'score': 0.44}, {'connected_gene': 'PIR53089', 'score': 0.39}, {'connected_gene': 'PTBP3', 'score': 0.15}]
chr9 GH09I112223 112223883 112225986 0.93 [{'connected_gene': 'SUSD1', 'score': 20.05}, {'connected_gene': 'RPL29P20', 'score': 11.29}, {'connected_gene': 'PIR53089', 'score': 0.44}, {'connected_gene': 'RN7SL57P', 'score': 0.37}, {'connected_gene': 'PTBP3', 'score': 0.14}]
chr9 GH09I112248 112248436 112250735 0.69 [{'connected_gene': 'SUSD1', 'score': 30.38}, {'connected_gene': 'RPL29P20', 'score': 10.77}, {'connected_gene': 'GC09P112253', 'score': 0.77}, {'connected_gene': 'RN7SL57P', 'score': 0.44}, {'connected_gene': 'PTBP3', 'score': 0.18}]
chr9 GH09I112716 112716843 112718972 2.04 [{'connected_gene': 'INIP', 'score': 550.77}, {'connected_gene': 'PRPF4', 'score': 36.37}, {'connected_gene': 'FKBP15', 'score': 11.44}, {'connected_gene': 'CDC26', 'score': 10.46}, {'connected_gene': 'RPL32P22', 'score': 10.07}, {'connected_gene': 'PTBP3', 'score': 10.02}, {'connected_gene': 'GC09P112628', 'score': 0.17}]
chr9 GH09I112495 112495474 112497000 1.26 [{'connected_gene': 'INIP', 'score': 10.09}, {'connected_gene': 'SUSD1', 'score': 1.81}, {'connected_gene': 'SNX30', 'score': 1.69}, {'connected_gene': 'PTBP3', 'score': 1.68}, {'connected_gene': 'C9orf147', 'score': 0.44}, {'connected_gene': 'KIAA1958', 'score': 0.44}, {'connected_gene': 'PIR62708', 'score': 0.37}]
chr9 GH09I112707 112707939 112707969 0.23 [{'connected_gene': 'SNX30', 'score': 11.41}, {'connected_gene': 'ENSG00000226609', 'score': 11.41}, {'connected_gene': 'HSDL2', 'score': 4.09}, {'connected_gene': 'PTBP3', 'score': 2.84}, {'connected_gene': 'INIP', 'score': 2.35}, {'connected_gene': 'GC09P112628', 'score': 0.18}]
chr9 GH09I111794 111794561 111795510 0.59 [{'connected_gene': 'C9orf84', 'score': 550.77}, {'connected_gene': 'GNG10', 'score': 24.46}, {'connected_gene': 'PTBP3', 'score': 10.0}, {'connected_gene': 'ENSG00000224067', 'score': 0.44}]
chr9 GH09I112271 112271404 112272512 0.52 [{'connected_gene': 'RN7SL430P', 'score': 550.77}, {'connected_gene': 'SUSD1', 'score': 19.6}, {'connected_gene': 'RNA5SP295', 'score': 0.37}, {'connected_gene': 'PTBP3', 'score': 0.21}]
chr9 GH09I111937 111937002 111939579 1.42 [{'connected_gene': 'RNU6-710P', 'score': 11.8}, {'connected_gene': 'RNU6-1013P', 'score': 10.62}, {'connected_gene': 'GNG10', 'score': 8.62}, {'connected_gene': 'KIAA1958', 'score': 5.3}, {'connected_gene': 'C9orf84', 'score': 4.64}, {'connected_gene': 'PTBP3', 'score': 2.26}, {'connected_gene': 'SUSD1', 'score': 1.64}, {'connected_gene': 'DNAJC25', 'score': 1.3}, {'connected_gene': 'HSDL2', 'score': 1.18}, {'connected_gene': 'MIR4668', 'score': 0.44}]
chr9 GH09I112218 112218628 112219636 0.67 [{'connected_gene': 'PIR53089', 'score': 550.77}, {'connected_gene': 'SUSD1', 'score': 25.04}, {'connected_gene': 'RPL29P20', 'score': 11.31}, {'connected_gene': 'PTBP3', 'score': 0.14}]
chr9 GH09I112749 112749502 112752250 2.26 [{'connected_gene': 'ENSG00000226609', 'score': 556.57}, {'connected_gene': 'SNX30', 'score': 550.77}, {'connected_gene': 'PRPF4', 'score': 13.37}, {'connected_gene': 'PTBP3', 'score': 12.12}, {'connected_gene': 'FKBP15', 'score': 11.07}, {'connected_gene': 'UGCG', 'score': 11.06}, {'connected_gene': 'ENSG00000271631', 'score': 5.09}, {'connected_gene': 'PIR49803', 'score': 0.13}]

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