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
ENST00000333952 [[53731576, 53732199], [53733632, 53737224], [53737629, 53741810], [53746996, 53747150], [53754788, 53754858], [53756338, 53756409], [53758086, 53758126]] [[53740224, 53741810], [53746996, 53747150], [53754788, 53754803]]
ENST00000598513 [[53738633, 53741810], [53746996, 53747150], [53754788, 53754858], [53756338, 53756409], [53758086, 53758111]] [[53740224, 53741810], [53746996, 53747150], [53754788, 53754803]]
ENST00000594517 [[53741542, 53741810], [53746996, 53747150], [53754788, 53754858], [53756338, 53756409], [53757882, 53757941]] [[53741542, 53741810], [53746996, 53747150], [53754788, 53754803]]
ENST00000599328 [[53741849, 53745056]] None
ENST00000599012 [[53744644, 53745118], [53746996, 53747150], [53754788, 53754858], [53756338, 53756409], [53758086, 53758113]] [[53745053, 53745118], [53746996, 53747150], [53754788, 53754803]]
ENST00000594681 [[53745176, 53745583], [53746996, 53747150], [53754788, 53754858], [53756338, 53756409], [53757851, 53758084]] [[53745509, 53745583], [53746996, 53747150], [53754788, 53754803]]
ENST00000598806 [[53745333, 53745693], [53746996, 53747150], [53754788, 53754858], [53756338, 53756409], [53758086, 53758132]] [[53745646, 53745693], [53746996, 53747150], [53754788, 53754803]]
ENST00000593539 [[53745463, 53747264]] None
ENST00000601828 [[53746585, 53747150], [53754788, 53754858], [53756338, 53756409], [53758086, 53758099]] [[53746958, 53747150], [53754788, 53754803]]
ENST00000601413 [[53746808, 53747150], [53754788, 53754858], [53756338, 53756409], [53757851, 53758074]] [[53746958, 53747150], [53754788, 53754803]]
ENST00000595293 [[53752374, 53752724], [53754788, 53754858], [53756338, 53756409], [53758086, 53758151]] None
NM_001317998 [[53738633, 53741810], [53746996, 53747150], [53754788, 53754858], [53756338, 53756409], [53757851, 53758103]] [[53740224, 53741810], [53746996, 53747150], [53754788, 53754803]]
NM_182609 [[53738633, 53741810], [53746996, 53747150], [53754788, 53754858], [53756338, 53756409], [53758086, 53758156]] [[53740224, 53741810], [53746996, 53747150], [53754788, 53754803]]
Promoter
Chrom Start End Description
chr19 53758058 53758088 CAGE_peak_2_at_ZNF677_5end
chr19 53758094 53758147 CAGE_peak_1_at_ZNF677_5end
chr19 53758167 53758190 CAGE_peak_3_at_ZNF677_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I053332 53332601 53334801 1.88 [{'connected_gene': 'ZNF845', 'score': 559.72}, {'connected_gene': 'PRPF31', 'score': 12.71}, {'connected_gene': 'ZNF677', 'score': 11.33}, {'connected_gene': 'ENSG00000268970', 'score': 5.2}, {'connected_gene': 'VN1R6P', 'score': 0.37}]
chr19 GH19I053127 53127114 53128359 0.51 [{'connected_gene': 'ZNF160', 'score': 22.39}, {'connected_gene': 'ZNF347', 'score': 11.61}, {'connected_gene': 'ZNF677', 'score': 10.33}, {'connected_gene': 'VN1R2', 'score': 10.32}, {'connected_gene': 'ZNF415', 'score': 6.3}, {'connected_gene': 'LOC105372454', 'score': 0.44}]
chr19 GH19I053124 53124259 53125179 0.2 [{'connected_gene': 'ZNF160', 'score': 20.46}, {'connected_gene': 'ZNF347', 'score': 11.61}, {'connected_gene': 'VN1R2', 'score': 10.41}, {'connected_gene': 'ZNF677', 'score': 10.41}, {'connected_gene': 'ZNF415', 'score': 9.86}, {'connected_gene': 'LOC105372454', 'score': 0.44}]
chr19 GH19I053019 53019848 53019957 0.38 [{'connected_gene': 'ZNF160', 'score': 10.65}, {'connected_gene': 'BIRC8', 'score': 10.61}, {'connected_gene': 'ZNF415', 'score': 10.52}, {'connected_gene': 'ZNF347', 'score': 9.72}, {'connected_gene': 'ZNF677', 'score': 9.22}, {'connected_gene': 'VN1R2', 'score': 9.22}, {'connected_gene': 'ERVV-1', 'score': 0.44}, {'connected_gene': 'ZNF702P', 'score': 0.37}]
chr19 GH19I053016 53016948 53017097 0.38 [{'connected_gene': 'ZNF160', 'score': 10.64}, {'connected_gene': 'BIRC8', 'score': 10.61}, {'connected_gene': 'ZNF415', 'score': 10.51}, {'connected_gene': 'ZNF347', 'score': 9.72}, {'connected_gene': 'VN1R2', 'score': 9.22}, {'connected_gene': 'ZNF677', 'score': 9.22}, {'connected_gene': 'ERVV-1', 'score': 0.77}, {'connected_gene': 'ZNF702P', 'score': 0.34}]
chr19 GH19I053956 53956635 53960676 0.89 [{'connected_gene': 'ZNF347', 'score': 19.22}, {'connected_gene': 'PRPF31', 'score': 16.71}, {'connected_gene': 'LENG8-AS1', 'score': 13.33}, {'connected_gene': 'LENG8', 'score': 13.14}, {'connected_gene': 'ZNF665', 'score': 12.64}, {'connected_gene': 'MIR935', 'score': 12.53}, {'connected_gene': 'CACNG6', 'score': 12.48}, {'connected_gene': 'ZNF525', 'score': 12.19}, {'connected_gene': 'ZNF160', 'score': 11.75}, {'connected_gene': 'ZNF677', 'score': 11.26}, {'connected_gene': 'ZNF702P', 'score': 11.23}, {'connected_gene': 'ZNF761', 'score': 10.91}, {'connected_gene': 'ENSG00000235681', 'score': 10.8}, {'connected_gene': 'ENSG00000267838', 'score': 10.23}, {'connected_gene': 'CACNG8', 'score': 7.6}, {'connected_gene': 'PIR36356', 'score': 0.28}]
chr19 GH19I053037 53037201 53038200 1.04 [{'connected_gene': 'ZNF702P', 'score': 563.08}, {'connected_gene': 'ZNF347', 'score': 11.41}, {'connected_gene': 'ZNF160', 'score': 10.82}, {'connected_gene': 'ZNF677', 'score': 10.76}, {'connected_gene': 'VN1R2', 'score': 10.75}, {'connected_gene': 'BIRC8', 'score': 10.41}, {'connected_gene': 'ERVV-1', 'score': 0.34}]
chr19 GH19I054186 54186204 54193039 2.29 [{'connected_gene': 'TSEN34', 'score': 559.63}, {'connected_gene': 'MBOAT7', 'score': 550.77}, {'connected_gene': 'PRPF31', 'score': 35.67}, {'connected_gene': 'ZNF845', 'score': 21.82}, {'connected_gene': 'ZNF665', 'score': 21.48}, {'connected_gene': 'ENSG00000269001', 'score': 19.65}, {'connected_gene': 'ZNF677', 'score': 19.36}, {'connected_gene': 'LENG8', 'score': 14.85}, {'connected_gene': 'CNOT3', 'score': 14.84}, {'connected_gene': 'ENSG00000269288', 'score': 12.98}, {'connected_gene': 'ENSG00000267838', 'score': 12.35}, {'connected_gene': 'LENG8-AS1', 'score': 12.24}, {'connected_gene': 'ZNF525', 'score': 12.04}, {'connected_gene': 'ENSG00000235681', 'score': 11.99}, {'connected_gene': 'LILRB3', 'score': 11.65}, {'connected_gene': 'VN1R103P', 'score': 11.63}, {'connected_gene': 'LILRA6', 'score': 11.59}, {'connected_gene': 'ENSG00000249189', 'score': 11.58}, {'connected_gene': 'LILRB5', 'score': 11.56}, {'connected_gene': 'ZNF761', 'score': 10.51}]
chr19 GH19I054199 54199643 54211777 2.67 [{'connected_gene': 'RPS9', 'score': 576.98}, {'connected_gene': 'PRPF31', 'score': 83.39}, {'connected_gene': 'LENG8', 'score': 76.91}, {'connected_gene': 'LENG8-AS1', 'score': 70.73}, {'connected_gene': 'CNOT3', 'score': 67.81}, {'connected_gene': 'ZNF525', 'score': 63.2}, {'connected_gene': 'ZNF845', 'score': 52.51}, {'connected_gene': 'ENSG00000235681', 'score': 52.44}, {'connected_gene': 'LILRB5', 'score': 41.54}, {'connected_gene': 'ZNF765', 'score': 41.36}, {'connected_gene': 'ZNF761', 'score': 40.82}, {'connected_gene': 'TPM3P6', 'score': 32.66}, {'connected_gene': 'LILRB3', 'score': 22.38}, {'connected_gene': 'LILRA6', 'score': 22.37}, {'connected_gene': 'TPM3P9', 'score': 21.81}, {'connected_gene': 'ZNF677', 'score': 21.27}, {'connected_gene': 'LENG1', 'score': 21.09}, {'connected_gene': 'LILRA2', 'score': 19.95}, {'connected_gene': 'ENSG00000267838', 'score': 18.98}, {'connected_gene': 'MYADM', 'score': 16.9}, {'connected_gene': 'LILRA4', 'score': 15.14}, {'connected_gene': 'VSTM1', 'score': 13.45}, {'connected_gene': 'LILRA5', 'score': 12.73}, {'connected_gene': 'ENSG00000249189', 'score': 12.34}, {'connected_gene': 'TMC4', 'score': 12.22}, {'connected_gene': 'TSEN34', 'score': 12.14}, {'connected_gene': 'ZNF813', 'score': 10.04}, {'connected_gene': 'NLRP12', 'score': 9.94}, {'connected_gene': 'LOC105372457', 'score': 9.83}, {'connected_gene': 'PPP1R12C', 'score': 9.65}, {'connected_gene': 'LILRA1', 'score': 9.52}, {'connected_gene': 'MBOAT7', 'score': 9.27}, {'connected_gene': 'LILRP1', 'score': 8.68}, {'connected_gene': 'LILRB2', 'score': 8.22}, {'connected_gene': 'OSCAR', 'score': 8.08}, {'connected_gene': 'LILRB1', 'score': 6.16}, {'connected_gene': 'LAIR1', 'score': 3.17}, {'connected_gene': 'LILRB4', 'score': 2.67}, {'connected_gene': 'TARM1', 'score': 1.32}, {'connected_gene': 'ENSG00000224579', 'score': 0.77}, {'connected_gene': 'ENSG00000223660', 'score': 0.44}]
chr19 GH19I053878 53878827 53880191 1.67 [{'connected_gene': 'PRKCG', 'score': 550.77}, {'connected_gene': 'ZNF525', 'score': 13.99}, {'connected_gene': 'LENG8-AS1', 'score': 12.99}, {'connected_gene': 'PRPF31', 'score': 11.25}, {'connected_gene': 'CDC42EP5', 'score': 10.93}, {'connected_gene': 'ZNF761', 'score': 10.82}, {'connected_gene': 'ZNF160', 'score': 10.12}, {'connected_gene': 'LENG8', 'score': 10.1}, {'connected_gene': 'ENSG00000235681', 'score': 10.1}, {'connected_gene': 'ZNF677', 'score': 10.03}, {'connected_gene': 'ZNF320', 'score': 9.9}, {'connected_gene': 'ENSG00000267838', 'score': 9.71}, {'connected_gene': 'CACNG7', 'score': 0.31}]
chr19 GH19I053517 53517206 53522022 2.05 [{'connected_gene': 'ZNF331', 'score': 557.87}, {'connected_gene': 'ZNF137P', 'score': 36.32}, {'connected_gene': 'LENG8', 'score': 34.78}, {'connected_gene': 'ZNF525', 'score': 33.64}, {'connected_gene': 'LENG8-AS1', 'score': 33.33}, {'connected_gene': 'PRPF31', 'score': 31.66}, {'connected_gene': 'CNOT3', 'score': 30.96}, {'connected_gene': 'ZNF160', 'score': 30.39}, {'connected_gene': 'ZNF701', 'score': 30.09}, {'connected_gene': 'ZNF83', 'score': 28.03}, {'connected_gene': 'ENSG00000268970', 'score': 26.24}, {'connected_gene': 'ENSG00000269001', 'score': 24.36}, {'connected_gene': 'ZNF611', 'score': 23.54}, {'connected_gene': 'ZNF845', 'score': 23.11}, {'connected_gene': 'ZNF808', 'score': 22.55}, {'connected_gene': 'ZNF816', 'score': 21.22}, {'connected_gene': 'TPM3P6', 'score': 21.16}, {'connected_gene': 'ZNF761', 'score': 20.2}, {'connected_gene': 'ENSG00000269825', 'score': 19.78}, {'connected_gene': 'ZNF468', 'score': 19.11}, {'connected_gene': 'ENSG00000235681', 'score': 18.99}, {'connected_gene': 'ZNF320', 'score': 18.18}, {'connected_gene': 'ZNF677', 'score': 18.15}, {'connected_gene': 'VN1R103P', 'score': 14.71}, {'connected_gene': 'ZNF600', 'score': 14.68}, {'connected_gene': 'ZNF347', 'score': 13.84}, {'connected_gene': 'TPM3P9', 'score': 13.48}, {'connected_gene': 'ENSG00000268225', 'score': 13.37}, {'connected_gene': 'ZNF665', 'score': 13.35}, {'connected_gene': 'ZNF702P', 'score': 12.64}, {'connected_gene': 'ZNF28', 'score': 12.23}, {'connected_gene': 'ENSG00000267838', 'score': 9.7}, {'connected_gene': 'RNU6-698P', 'score': 9.68}, {'connected_gene': 'ENSG00000274892', 'score': 0.44}, {'connected_gene': 'DPRX', 'score': 0.18}]
chr19 GH19I053224 53224601 53225000 0.5 [{'connected_gene': 'NDUFV2P1', 'score': 550.77}, {'connected_gene': 'GC19P053223', 'score': 550.77}, {'connected_gene': 'ZNF677', 'score': 17.05}, {'connected_gene': 'VN1R2', 'score': 11.77}, {'connected_gene': 'FAM90A27P', 'score': 11.1}, {'connected_gene': 'ZNF160', 'score': 10.2}]
chr19 GH19I052941 52941426 52947559 2.17 [{'connected_gene': 'ZNF321P', 'score': 550.77}, {'connected_gene': 'ZNF816', 'score': 36.5}, {'connected_gene': 'ZNF160', 'score': 11.98}, {'connected_gene': 'VN1R2', 'score': 9.99}, {'connected_gene': 'ZNF677', 'score': 9.99}, {'connected_gene': 'ZNF665', 'score': 5.5}, {'connected_gene': 'ZNF761', 'score': 1.89}, {'connected_gene': 'ZNF347', 'score': 1.88}, {'connected_gene': 'ZNF415', 'score': 1.8}, {'connected_gene': 'ZNF83', 'score': 1.69}, {'connected_gene': 'ZNF701', 'score': 1.42}, {'connected_gene': 'ZNF808', 'score': 1.26}, {'connected_gene': 'ZNF765', 'score': 1.25}, {'connected_gene': 'ZNF816-ZNF321P', 'score': 0.37}, {'connected_gene': 'ENSG00000283088', 'score': 0.37}]
chr19 GH19I052526 52526511 52528919 1.97 [{'connected_gene': 'ZNF808', 'score': 564.96}, {'connected_gene': 'ZNF611', 'score': 22.95}, {'connected_gene': 'ZNF613', 'score': 17.43}, {'connected_gene': 'ZNF137P', 'score': 17.12}, {'connected_gene': 'ZNF701', 'score': 15.58}, {'connected_gene': 'ENSG00000268970', 'score': 15.49}, {'connected_gene': 'ENSG00000269001', 'score': 13.63}, {'connected_gene': 'TPM3P9', 'score': 13.34}, {'connected_gene': 'ZNF665', 'score': 13.32}, {'connected_gene': 'ZNF525', 'score': 13.23}, {'connected_gene': 'ZNF160', 'score': 12.56}, {'connected_gene': 'TPM3P6', 'score': 12.45}, {'connected_gene': 'ZNF28', 'score': 12.26}, {'connected_gene': 'ZNF578', 'score': 11.97}, {'connected_gene': 'ZNF845', 'score': 11.96}, {'connected_gene': 'ZNF816', 'score': 11.8}, {'connected_gene': 'ENSG00000269825', 'score': 11.74}, {'connected_gene': 'ZNF841', 'score': 11.47}, {'connected_gene': 'ZNF836', 'score': 11.44}, {'connected_gene': 'ZNF766', 'score': 11.43}, {'connected_gene': 'SPACA6P-AS', 'score': 11.36}, {'connected_gene': 'ZNF677', 'score': 11.17}, {'connected_gene': 'ZNF761', 'score': 11.0}, {'connected_gene': 'ZNF577', 'score': 10.89}, {'connected_gene': 'ZNF880', 'score': 10.49}, {'connected_gene': 'ZNF175', 'score': 10.26}, {'connected_gene': 'ZNF83', 'score': 10.12}, {'connected_gene': 'ZNF468', 'score': 9.85}, {'connected_gene': 'LOC100419835', 'score': 9.8}, {'connected_gene': 'ZNF347', 'score': 9.63}]
chr19 GH19I053254 53254000 53255800 1.75 [{'connected_gene': 'ZNF677', 'score': 565.46}, {'connected_gene': 'VN1R2', 'score': 0.77}]
chr19 GH19I053977 53977087 53982836 1.72 [{'connected_gene': 'PRPF31', 'score': 51.05}, {'connected_gene': 'ZNF525', 'score': 43.88}, {'connected_gene': 'LENG8-AS1', 'score': 43.78}, {'connected_gene': 'ZNF160', 'score': 42.25}, {'connected_gene': 'ZNF845', 'score': 40.66}, {'connected_gene': 'ZNF665', 'score': 39.88}, {'connected_gene': 'ZNF761', 'score': 38.89}, {'connected_gene': 'ZNF347', 'score': 37.55}, {'connected_gene': 'LENG8', 'score': 36.05}, {'connected_gene': 'ENSG00000235681', 'score': 31.21}, {'connected_gene': 'CNOT3', 'score': 26.13}, {'connected_gene': 'ENSG00000269001', 'score': 23.45}, {'connected_gene': 'ENSG00000267838', 'score': 20.88}, {'connected_gene': 'CACNG8', 'score': 18.5}, {'connected_gene': 'TPM3P9', 'score': 13.34}, {'connected_gene': 'TPM3P6', 'score': 12.46}, {'connected_gene': 'ZNF765', 'score': 11.11}, {'connected_gene': 'ZNF677', 'score': 11.09}, {'connected_gene': 'ZNF702P', 'score': 10.89}, {'connected_gene': 'ENSG00000269288', 'score': 10.15}, {'connected_gene': 'ENSG00000269873', 'score': 9.88}, {'connected_gene': 'CACNG6', 'score': 6.91}, {'connected_gene': 'MIR935', 'score': 0.77}]
chr19 GH19I053004 53004070 53005210 0.38 [{'connected_gene': 'LOC204800', 'score': 550.77}, {'connected_gene': 'VN1R2', 'score': 10.66}, {'connected_gene': 'ZNF677', 'score': 10.66}, {'connected_gene': 'ZNF702P', 'score': 7.13}, {'connected_gene': 'ENSG00000267943', 'score': 0.77}]
chr19 GH19I053002 53002639 53002737 0.38 [{'connected_gene': 'LOC204800', 'score': 550.77}, {'connected_gene': 'VN1R2', 'score': 10.29}, {'connected_gene': 'ZNF677', 'score': 10.29}, {'connected_gene': 'ZNF702P', 'score': 6.96}, {'connected_gene': 'ENSG00000269082', 'score': 0.34}]
chr19 GH19I053364 53364888 53366801 1.35 [{'connected_gene': 'ZNF525', 'score': 572.63}, {'connected_gene': 'VN1R2', 'score': 10.35}, {'connected_gene': 'ZNF677', 'score': 10.34}, {'connected_gene': 'PIR40972', 'score': 0.37}]
chr19 GH19I053045 53044848 53044997 0.2 [{'connected_gene': 'ERVV-2', 'score': 550.77}, {'connected_gene': 'ZNF677', 'score': 10.04}, {'connected_gene': 'VN1R2', 'score': 10.03}, {'connected_gene': 'GC19M053068', 'score': 0.34}]
chr19 GH19I053044 53044691 53044750 0.5 [{'connected_gene': 'ERVV-2', 'score': 550.77}, {'connected_gene': 'VN1R2', 'score': 10.03}, {'connected_gene': 'ZNF677', 'score': 10.03}, {'connected_gene': 'ZNF702P', 'score': 0.44}]
chr19 GH19I053308 53308508 53308657 0.57 [{'connected_gene': 'FAM90A28P', 'score': 550.77}, {'connected_gene': 'FAM90A27P', 'score': 11.81}, {'connected_gene': 'VN1R2', 'score': 11.39}, {'connected_gene': 'ZNF677', 'score': 11.39}, {'connected_gene': 'ZNF347', 'score': 9.83}, {'connected_gene': 'BIRC8', 'score': 0.37}]

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