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
ENST00000581078 [[73106046, 73106474], [73106557, 73106637], [73124771, 73125265]] [[73106383, 73106474], [73106557, 73106637], [73124771, 73124912]]
ENST00000582136 [[73106072, 73106474], [73106557, 73106701], [73110263, 73110921]] [[73106383, 73106474], [73106557, 73106701], [73110263, 73110277]]
ENST00000245543 [[73106081, 73106474], [73106557, 73106701], [73124771, 73126360]] [[73106383, 73106474], [73106557, 73106701], [73124771, 73125133]]
ENST00000584947 [[73106275, 73106474], [73106557, 73106701], [73110823, 73110925]] [[73106383, 73106474], [73106557, 73106701], [73110823, 73110894]]
ENST00000579096 [[73110385, 73110732], [73124771, 73125546]] None
NM_001304272 [[73106046, 73106474], [73106557, 73106701], [73110823, 73110925]] [[73106383, 73106474], [73106557, 73106701], [73110823, 73110894]]
NM_001304273 [[73106046, 73106474], [73106557, 73106701], [73110263, 73110925]] [[73106383, 73106474], [73106557, 73106701], [73110263, 73110277]]
NM_001304271 [[73106046, 73106474], [73106557, 73106637], [73124771, 73126360]] [[73106383, 73106474], [73106557, 73106637], [73124771, 73124912]]
NM_024585 [[73106046, 73106474], [73106557, 73106701], [73124771, 73126360]] [[73106383, 73106474], [73106557, 73106701], [73124771, 73125133]]
Promoter
Chrom Start End Description
chr17 73106035 73106075 CAGE_peak_1_at_ARMC7_5end
chr17 73106090 73106109 CAGE_peak_2_at_ARMC7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I075085 75085525 75097466 2.76 [{'connected_gene': 'SLC16A5', 'score': 563.68}, {'connected_gene': 'GC17M075090', 'score': 550.77}, {'connected_gene': 'ENSG00000206713', 'score': 550.77}, {'connected_gene': 'NUP85', 'score': 85.7}, {'connected_gene': 'UNK', 'score': 85.26}, {'connected_gene': 'NT5C', 'score': 69.68}, {'connected_gene': 'ENSG00000266980', 'score': 61.69}, {'connected_gene': 'ENSG00000267342', 'score': 59.02}, {'connected_gene': 'GGA3', 'score': 58.77}, {'connected_gene': 'NAT9', 'score': 52.3}, {'connected_gene': 'TRIM65', 'score': 31.32}, {'connected_gene': 'RN7SL573P', 'score': 22.63}, {'connected_gene': 'SAP30BP', 'score': 19.54}, {'connected_gene': 'CDK3', 'score': 19.21}, {'connected_gene': 'MGC16275', 'score': 14.01}, {'connected_gene': 'HID1', 'score': 12.28}, {'connected_gene': 'FBF1', 'score': 11.0}, {'connected_gene': 'MIF4GD', 'score': 10.95}, {'connected_gene': 'SUMO2', 'score': 10.5}, {'connected_gene': 'SRP68', 'score': 10.39}, {'connected_gene': 'ENSG00000267801', 'score': 10.33}, {'connected_gene': 'ENSG00000270993', 'score': 10.05}, {'connected_gene': 'RECQL5', 'score': 9.78}, {'connected_gene': 'MRPS7', 'score': 7.39}, {'connected_gene': 'MRPL58', 'score': 6.29}, {'connected_gene': 'MYO15B', 'score': 6.06}, {'connected_gene': 'LOC100287042', 'score': 5.66}, {'connected_gene': 'ATP5PD', 'score': 5.45}, {'connected_gene': 'TSEN54', 'score': 5.34}, {'connected_gene': 'ARMC7', 'score': 4.99}, {'connected_gene': 'CDR2L', 'score': 4.94}, {'connected_gene': 'SMIM6', 'score': 4.79}, {'connected_gene': 'KCTD2', 'score': 4.7}, {'connected_gene': 'LLGL2', 'score': 2.17}]
chr17 GH17I075104 75104721 75106404 1.15 [{'connected_gene': 'UNK', 'score': 32.75}, {'connected_gene': 'ENSG00000266980', 'score': 28.77}, {'connected_gene': 'GGA3', 'score': 23.96}, {'connected_gene': 'NUP85', 'score': 23.81}, {'connected_gene': 'SLC16A5', 'score': 19.11}, {'connected_gene': 'NT5C', 'score': 18.82}, {'connected_gene': 'ENSG00000267342', 'score': 14.46}, {'connected_gene': 'MYO15B', 'score': 12.32}, {'connected_gene': 'TMEM94', 'score': 11.49}, {'connected_gene': 'NAT9', 'score': 11.46}, {'connected_gene': 'SUMO2', 'score': 10.52}, {'connected_gene': 'CDK3', 'score': 9.75}, {'connected_gene': 'MRPS7', 'score': 6.61}, {'connected_gene': 'CDR2L', 'score': 4.3}, {'connected_gene': 'ARMC7', 'score': 0.77}, {'connected_gene': 'GC17M075090', 'score': 0.37}, {'connected_gene': 'ENSG00000206713', 'score': 0.37}]
chr17 GH17I075123 75123479 75126401 1.67 [{'connected_gene': 'NUP85', 'score': 15.42}, {'connected_gene': 'JPT1', 'score': 12.68}, {'connected_gene': 'NT5C', 'score': 11.68}, {'connected_gene': 'ATP5PD', 'score': 11.11}, {'connected_gene': 'KCTD2', 'score': 11.09}, {'connected_gene': 'MRPL58', 'score': 6.86}, {'connected_gene': 'MRPS7', 'score': 5.58}, {'connected_gene': 'TSEN54', 'score': 4.33}, {'connected_gene': 'SLC16A5', 'score': 1.72}, {'connected_gene': 'CD300LF', 'score': 1.51}, {'connected_gene': 'GRB2', 'score': 1.4}, {'connected_gene': 'PIR57447', 'score': 0.77}, {'connected_gene': 'ENSG00000279035', 'score': 0.44}, {'connected_gene': 'ARMC7', 'score': 0.39}]
chr17 GH17I075113 75113646 75115294 1.66 [{'connected_gene': 'NUP85', 'score': 16.97}, {'connected_gene': 'JPT1', 'score': 12.43}, {'connected_gene': 'ATP5PD', 'score': 11.28}, {'connected_gene': 'KCTD2', 'score': 11.25}, {'connected_gene': 'SLC16A5', 'score': 7.89}, {'connected_gene': 'GC17P075119', 'score': 0.77}, {'connected_gene': 'ARMC7', 'score': 0.77}, {'connected_gene': 'PIR52086', 'score': 0.77}]
chr17 GH17I075128 75128339 75129302 0.46 [{'connected_gene': 'NUP85', 'score': 16.08}, {'connected_gene': 'JPT1', 'score': 12.69}, {'connected_gene': 'ATP5PD', 'score': 11.1}, {'connected_gene': 'KCTD2', 'score': 11.08}, {'connected_gene': 'ENSG00000279035', 'score': 0.77}, {'connected_gene': 'PIR57447', 'score': 0.44}, {'connected_gene': 'ARMC7', 'score': 0.37}]
chr17 GH17I075127 75127060 75127950 0.65 [{'connected_gene': 'NUP85', 'score': 16.35}, {'connected_gene': 'JPT1', 'score': 12.68}, {'connected_gene': 'ATP5PD', 'score': 11.1}, {'connected_gene': 'KCTD2', 'score': 11.09}, {'connected_gene': 'MRPL58', 'score': 6.43}, {'connected_gene': 'ENSG00000279035', 'score': 0.77}, {'connected_gene': 'PIR57447', 'score': 0.44}, {'connected_gene': 'ARMC7', 'score': 0.37}]
chr17 GH17I075103 75103488 75104499 0.49 [{'connected_gene': 'ARMC7', 'score': 0.44}, {'connected_gene': 'GC17M075090', 'score': 0.39}, {'connected_gene': 'ENSG00000206713', 'score': 0.39}, {'connected_gene': 'SLC16A5', 'score': 0.37}]
chr17 GH17I075109 75109031 75111071 2.18 [{'connected_gene': 'ARMC7', 'score': 557.54}, {'connected_gene': 'H3F3B', 'score': 12.48}, {'connected_gene': 'JPT1', 'score': 12.42}, {'connected_gene': 'NUP85', 'score': 12.35}, {'connected_gene': 'UNK', 'score': 12.11}, {'connected_gene': 'GGA3', 'score': 11.6}, {'connected_gene': 'ATP5PD', 'score': 11.29}, {'connected_gene': 'KCTD2', 'score': 11.26}, {'connected_gene': 'NT5C', 'score': 11.05}, {'connected_gene': 'SAP30BP', 'score': 11.04}, {'connected_gene': 'GC17P075119', 'score': 0.44}, {'connected_gene': 'PIR52086', 'score': 0.44}]
chr17 GH17I075115 75115566 75115715 0.2 [{'connected_gene': 'JPT1', 'score': 12.43}, {'connected_gene': 'NUP85', 'score': 12.36}, {'connected_gene': 'ATP5PD', 'score': 11.28}, {'connected_gene': 'KCTD2', 'score': 11.25}, {'connected_gene': 'GC17P075119', 'score': 0.77}, {'connected_gene': 'PIR52086', 'score': 0.77}, {'connected_gene': 'ARMC7', 'score': 0.44}]
chr17 GH17I075076 75076922 75080454 1.64 [{'connected_gene': 'MRPS7', 'score': 10.37}, {'connected_gene': 'TRIM80P', 'score': 8.62}, {'connected_gene': 'HID1', 'score': 5.06}, {'connected_gene': 'CDR2L', 'score': 4.89}, {'connected_gene': 'SUMO2', 'score': 4.76}, {'connected_gene': 'LLGL2', 'score': 1.98}, {'connected_gene': 'ARMC7', 'score': 1.81}, {'connected_gene': 'RAB37', 'score': 1.73}, {'connected_gene': 'SLC16A5', 'score': 0.44}]
chr17 GH17I075969 75969369 75971080 1.13 [{'connected_gene': 'ACOX1', 'score': 12.2}, {'connected_gene': 'TSEN54', 'score': 11.44}, {'connected_gene': 'ARMC7', 'score': 10.74}, {'connected_gene': 'CDK3', 'score': 5.89}, {'connected_gene': 'TEN1-CDK3', 'score': 0.44}, {'connected_gene': 'TEN1', 'score': 0.44}, {'connected_gene': 'ENSG00000267615', 'score': 0.31}]
chr17 GH17I074281 74281918 74283690 1.49 [{'connected_gene': 'CD300E', 'score': 30.04}, {'connected_gene': 'TTYH2', 'score': 24.28}, {'connected_gene': 'NAT9', 'score': 11.76}, {'connected_gene': 'GGA3', 'score': 11.37}, {'connected_gene': 'ARMC7', 'score': 10.74}, {'connected_gene': 'NUP85', 'score': 9.95}, {'connected_gene': 'ENSG00000270993', 'score': 9.78}, {'connected_gene': 'NT5C', 'score': 9.7}, {'connected_gene': 'DNAI2', 'score': 8.85}, {'connected_gene': 'CD300C', 'score': 8.68}, {'connected_gene': 'CD300LB', 'score': 6.24}, {'connected_gene': 'TMEM104', 'score': 4.03}, {'connected_gene': 'CD300LF', 'score': 3.6}, {'connected_gene': 'CD300A', 'score': 2.35}, {'connected_gene': 'CD300LD', 'score': 1.68}, {'connected_gene': 'ENSG00000266106', 'score': 0.31}]
chr17 GH17I075010 75010330 75014074 2.58 [{'connected_gene': 'MRPL58', 'score': 560.74}, {'connected_gene': 'UNK', 'score': 28.73}, {'connected_gene': 'GGA3', 'score': 26.93}, {'connected_gene': 'HID1', 'score': 22.57}, {'connected_gene': 'NUP85', 'score': 21.27}, {'connected_gene': 'CDK3', 'score': 20.51}, {'connected_gene': 'NT5C', 'score': 19.52}, {'connected_gene': 'ENSG00000266980', 'score': 16.01}, {'connected_gene': 'KCTD2', 'score': 15.39}, {'connected_gene': 'CDR2L', 'score': 14.97}, {'connected_gene': 'FADS6', 'score': 12.25}, {'connected_gene': 'RECQL5', 'score': 11.92}, {'connected_gene': 'ENSG00000267342', 'score': 11.67}, {'connected_gene': 'SAP30BP', 'score': 11.55}, {'connected_gene': 'ATP5PD', 'score': 11.37}, {'connected_gene': 'TRIM65', 'score': 11.27}, {'connected_gene': 'NAT9', 'score': 9.78}, {'connected_gene': 'RAB37', 'score': 7.03}, {'connected_gene': 'GRIN2C', 'score': 6.22}, {'connected_gene': 'ARMC7', 'score': 4.93}, {'connected_gene': 'SUMO2', 'score': 3.59}, {'connected_gene': 'GC17M075008', 'score': 0.77}]
chr17 GH17I075097 75097752 75098201 0.31 [{'connected_gene': 'CDR2L', 'score': 4.42}, {'connected_gene': 'GC17M075090', 'score': 0.44}, {'connected_gene': 'ENSG00000206713', 'score': 0.44}, {'connected_gene': 'ARMC7', 'score': 0.39}, {'connected_gene': 'SLC16A5', 'score': 0.39}]
chr17 GH17I075130 75130158 75132732 2.24 [{'connected_gene': 'NT5C', 'score': 562.94}, {'connected_gene': 'ENSG00000279035', 'score': 550.77}, {'connected_gene': 'NUP85', 'score': 16.09}, {'connected_gene': 'MRPL58', 'score': 6.18}, {'connected_gene': 'ARMC7', 'score': 0.34}]
chr17 GH17I075102 75102086 75102784 0.82 [{'connected_gene': 'TSEN54', 'score': 11.44}, {'connected_gene': 'ARMC7', 'score': 11.15}, {'connected_gene': 'MRPL58', 'score': 5.14}, {'connected_gene': 'CDR2L', 'score': 4.36}, {'connected_gene': 'GC17M075090', 'score': 0.39}, {'connected_gene': 'ENSG00000206713', 'score': 0.39}, {'connected_gene': 'SLC16A5', 'score': 0.39}]
chr17 GH17I074960 74960466 74962001 1.4 [{'connected_gene': 'TSEN54', 'score': 14.34}, {'connected_gene': 'ARMC7', 'score': 10.82}, {'connected_gene': 'HID1', 'score': 10.19}, {'connected_gene': 'MRPL58', 'score': 5.2}, {'connected_gene': 'GC17M074966', 'score': 0.44}, {'connected_gene': 'OTOP3', 'score': 0.31}]
chr17 GH17I076026 76026001 76030378 2.17 [{'connected_gene': 'EVPL', 'score': 557.37}, {'connected_gene': 'UNK', 'score': 26.91}, {'connected_gene': 'NUP85', 'score': 20.36}, {'connected_gene': 'NT5C', 'score': 18.53}, {'connected_gene': 'SRP68', 'score': 17.22}, {'connected_gene': 'CDK3', 'score': 15.94}, {'connected_gene': 'SRSF2', 'score': 15.43}, {'connected_gene': 'TEN1', 'score': 15.28}, {'connected_gene': 'METTL23', 'score': 13.6}, {'connected_gene': 'ENSG00000266980', 'score': 13.28}, {'connected_gene': 'MYO15B', 'score': 12.32}, {'connected_gene': 'GGA3', 'score': 11.27}, {'connected_gene': 'MFSD11', 'score': 11.12}, {'connected_gene': 'SLC16A5', 'score': 10.85}, {'connected_gene': 'KCTD2', 'score': 10.56}, {'connected_gene': 'MRPL38', 'score': 9.91}, {'connected_gene': 'ARMC7', 'score': 5.13}, {'connected_gene': 'MRPS7', 'score': 4.72}, {'connected_gene': 'ENSG00000267078', 'score': 4.68}, {'connected_gene': 'TRIM47', 'score': 3.94}, {'connected_gene': 'H3F3B', 'score': 3.53}, {'connected_gene': 'GC17P076053', 'score': 0.34}, {'connected_gene': 'PIR59290', 'score': 0.34}]
chr17 GH17I074461 74461118 74470420 2.69 [{'connected_gene': 'CD300A', 'score': 564.81}, {'connected_gene': 'NUP85', 'score': 77.77}, {'connected_gene': 'NAT9', 'score': 75.11}, {'connected_gene': 'NT5C', 'score': 59.6}, {'connected_gene': 'GGA3', 'score': 40.5}, {'connected_gene': 'MGC16275', 'score': 14.05}, {'connected_gene': 'GPR142', 'score': 12.26}, {'connected_gene': 'CD300LB', 'score': 11.31}, {'connected_gene': 'ARMC7', 'score': 10.74}, {'connected_gene': 'BTBD17', 'score': 10.69}, {'connected_gene': 'HID1-AS1', 'score': 10.06}, {'connected_gene': 'RN7SL573P', 'score': 9.75}, {'connected_gene': 'CD300C', 'score': 7.69}, {'connected_gene': 'CD300E', 'score': 7.02}, {'connected_gene': 'CD300LF', 'score': 6.87}, {'connected_gene': 'CD300LD', 'score': 4.72}, {'connected_gene': 'TMEM104', 'score': 4.52}, {'connected_gene': 'RAB37', 'score': 3.43}, {'connected_gene': 'SLC9A3R1', 'score': 1.37}, {'connected_gene': 'GC17P074445', 'score': 0.34}]
chr17 GH17I075116 75116785 75117775 0.56 [{'connected_gene': 'GC17P075119', 'score': 550.77}, {'connected_gene': 'PIR52086', 'score': 550.77}, {'connected_gene': 'NUP85', 'score': 20.67}, {'connected_gene': 'JPT1', 'score': 12.43}, {'connected_gene': 'ATP5PD', 'score': 11.27}, {'connected_gene': 'KCTD2', 'score': 11.25}, {'connected_gene': 'ARMC7', 'score': 0.44}]
chr17 GH17I075118 75118050 75119553 0.46 [{'connected_gene': 'GC17P075119', 'score': 550.77}, {'connected_gene': 'PIR52086', 'score': 550.77}, {'connected_gene': 'NT5C', 'score': 12.14}, {'connected_gene': 'JPT1', 'score': 11.97}, {'connected_gene': 'ATP5PD', 'score': 10.78}, {'connected_gene': 'KCTD2', 'score': 10.75}, {'connected_gene': 'MRPL58', 'score': 6.0}, {'connected_gene': 'LOC100287042', 'score': 4.62}, {'connected_gene': 'PIR57447', 'score': 0.77}, {'connected_gene': 'ARMC7', 'score': 0.44}]
chr17 GH17I075119 75119670 75120528 0.51 [{'connected_gene': 'GC17P075119', 'score': 550.77}, {'connected_gene': 'PIR52086', 'score': 550.77}, {'connected_gene': 'NT5C', 'score': 12.62}, {'connected_gene': 'JPT1', 'score': 11.97}, {'connected_gene': 'ATP5PD', 'score': 10.78}, {'connected_gene': 'KCTD2', 'score': 10.75}, {'connected_gene': 'LOC100287042', 'score': 4.36}, {'connected_gene': 'PIR57447', 'score': 0.77}, {'connected_gene': 'ARMC7', 'score': 0.39}]

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