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
ENST00000534749 [[67259238, 67259767], [67260404, 67260533], [67260880, 67261064], [67261158, 67261308], [67261392, 67261541], [67261714, 67261831], [67262316, 67262427], [67262547, 67262696], [67262908, 67263073], [67263648, 67263819], [67264701, 67264907], [67264992, 67265150], [67265387, 67265495], [67265603, 67265793], [67266066, 67266317], [67266410, 67266472], [67267193, 67267301], [67267384, 67267480], [67267565, 67267892], [67269332, 67269557], [67269762, 67269884], [67269974, 67270189], [67271573, 67271840]] [[67259503, 67259767], [67260404, 67260533], [67260880, 67261064], [67261158, 67261308], [67261392, 67261541], [67261714, 67261831], [67262316, 67262427], [67262547, 67262696], [67262908, 67263073], [67263648, 67263819], [67264701, 67264907], [67264992, 67265150], [67265387, 67265495], [67265603, 67265793], [67266066, 67266317], [67266410, 67266472], [67267193, 67267301], [67267384, 67267480], [67267565, 67267892], [67269332, 67269557], [67269762, 67269884], [67269974, 67270189], [67271573, 67271651]]
ENST00000436757 [[67259238, 67259767], [67260404, 67260533], [67260880, 67261064], [67261158, 67261308], [67261392, 67261541], [67261714, 67261831], [67262316, 67262427], [67262547, 67262696], [67262908, 67263073], [67263648, 67263816], [67264701, 67264907], [67264992, 67265150], [67265387, 67265495], [67265603, 67265793], [67266066, 67266317], [67266410, 67266472], [67267193, 67267301], [67267384, 67267480], [67267565, 67267892], [67269332, 67269557], [67269762, 67269884], [67269974, 67270189], [67271573, 67271692], [67272658, 67272836]] [[67259503, 67259767], [67260404, 67260533], [67260880, 67261064], [67261158, 67261308], [67261392, 67261541], [67261714, 67261831], [67262316, 67262427], [67262547, 67262696], [67262908, 67263073], [67263648, 67263816], [67264701, 67264907], [67264992, 67265150], [67265387, 67265495], [67265603, 67265793], [67266066, 67266317], [67266410, 67266472], [67267193, 67267301], [67267384, 67267480], [67267565, 67267892], [67269332, 67269557], [67269762, 67269884], [67269974, 67270189], [67271573, 67271651]]
ENST00000527370 [[67259239, 67259767], [67260404, 67260533], [67260880, 67261064], [67261158, 67261308], [67261392, 67261541], [67261714, 67261831], [67262316, 67262427], [67262547, 67262696], [67262908, 67263073], [67263648, 67264907], [67264992, 67265150], [67265387, 67265495], [67265603, 67266108]] None
ENST00000356404 [[67259239, 67259767], [67260404, 67260533], [67260880, 67261064], [67261158, 67261308], [67261392, 67261541], [67261714, 67261831], [67262316, 67262427], [67262547, 67262696], [67262908, 67263073], [67263648, 67263819], [67264701, 67264907], [67264992, 67265150], [67265387, 67265495], [67265603, 67265793], [67266066, 67266317], [67266410, 67266472], [67267193, 67267301], [67267384, 67267480], [67267565, 67267892], [67269332, 67269557], [67269762, 67269884], [67269974, 67270189], [67271573, 67271692], [67272658, 67272843]] [[67259503, 67259767], [67260404, 67260533], [67260880, 67261064], [67261158, 67261308], [67261392, 67261541], [67261714, 67261831], [67262316, 67262427], [67262547, 67262696], [67262908, 67263073], [67263648, 67263819], [67264701, 67264907], [67264992, 67265150], [67265387, 67265495], [67265603, 67265793], [67266066, 67266317], [67266410, 67266472], [67267193, 67267301], [67267384, 67267480], [67267565, 67267892], [67269332, 67269557], [67269762, 67269884], [67269974, 67270189], [67271573, 67271651]]
ENST00000526450 [[67260914, 67261064], [67261158, 67261541], [67261714, 67261831], [67262316, 67262416]] None
ENST00000525568 [[67261766, 67261831], [67262316, 67262427], [67262547, 67262750]] None
ENST00000526602 [[67262610, 67262696], [67262908, 67263073], [67263648, 67263910]] None
ENST00000525521 [[67267109, 67267301], [67267384, 67267484]] None
ENST00000530381 [[67267241, 67267480], [67267565, 67267879]] None
ENST00000529203 [[67269438, 67269884], [67269974, 67270099]] None
ENST00000533391 [[67269483, 67269557], [67269762, 67269884], [67269974, 67270189], [67271573, 67271723]] [[67269483, 67269557], [67269762, 67269884], [67269974, 67270189], [67271573, 67271651]]
ENST00000532703 [[67269509, 67269557], [67269762, 67269884], [67269974, 67270189], [67271573, 67271692], [67271992, 67272028]] [[67269509, 67269557], [67269762, 67269884], [67269974, 67270189], [67271573, 67271651]]
ENST00000528559 [[67269517, 67269557], [67269762, 67269884], [67269974, 67270189], [67271573, 67271692], [67273646, 67273734]] [[67269517, 67269557], [67269762, 67269884], [67269974, 67270189], [67271573, 67271651]]
ENST00000527527 [[67269767, 67269884], [67269974, 67270189], [67272658, 67272785]] None
ENST00000524901 [[67270003, 67270189], [67271573, 67271692], [67272264, 67272509]] [[67270003, 67270189], [67271573, 67271651]]
ENST00000527103 [[67271310, 67271347], [67271573, 67271692], [67272658, 67272810]] None
NM_004910 [[67259238, 67259767], [67260404, 67260533], [67260880, 67261064], [67261158, 67261308], [67261392, 67261541], [67261714, 67261831], [67262316, 67262427], [67262547, 67262696], [67262908, 67263073], [67263648, 67263819], [67264701, 67264907], [67264992, 67265150], [67265387, 67265495], [67265603, 67265793], [67266066, 67266317], [67266410, 67266472], [67267193, 67267301], [67267384, 67267480], [67267565, 67267892], [67269332, 67269557], [67269762, 67269884], [67269974, 67270189], [67271573, 67271692], [67272658, 67272843]] [[67259503, 67259767], [67260404, 67260533], [67260880, 67261064], [67261158, 67261308], [67261392, 67261541], [67261714, 67261831], [67262316, 67262427], [67262547, 67262696], [67262908, 67263073], [67263648, 67263819], [67264701, 67264907], [67264992, 67265150], [67265387, 67265495], [67265603, 67265793], [67266066, 67266317], [67266410, 67266472], [67267193, 67267301], [67267384, 67267480], [67267565, 67267892], [67269332, 67269557], [67269762, 67269884], [67269974, 67270189], [67271573, 67271651]]
NM_001130848 [[67259238, 67259767], [67260404, 67260533], [67260880, 67261064], [67261158, 67261308], [67261392, 67261541], [67261714, 67261831], [67262316, 67262427], [67262547, 67262696], [67262908, 67263073], [67263648, 67263816], [67264701, 67264907], [67264992, 67265150], [67265387, 67265495], [67265603, 67265793], [67266066, 67266317], [67266410, 67266472], [67267193, 67267301], [67267384, 67267480], [67267565, 67267892], [67269332, 67269557], [67269762, 67269884], [67269974, 67270189], [67271573, 67271692], [67272658, 67272843]] [[67259503, 67259767], [67260404, 67260533], [67260880, 67261064], [67261158, 67261308], [67261392, 67261541], [67261714, 67261831], [67262316, 67262427], [67262547, 67262696], [67262908, 67263073], [67263648, 67263816], [67264701, 67264907], [67264992, 67265150], [67265387, 67265495], [67265603, 67265793], [67266066, 67266317], [67266410, 67266472], [67267193, 67267301], [67267384, 67267480], [67267565, 67267892], [67269332, 67269557], [67269762, 67269884], [67269974, 67270189], [67271573, 67271651]]
Promoter
Chrom Start End Description
chr11 67271845 67271902 CAGE_peak_2_at_PITPNM1_5end
chr11 67272779 67272790 CAGE_peak_3_at_PITPNM1_5end
chr11 67272794 67272855 CAGE_peak_1_at_PITPNM1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I067502 67502253 67502984 0.2 [{'connected_gene': 'PITPNM1', 'score': 0.77}, {'connected_gene': 'MIR6752', 'score': 0.39}]
chr11 GH11I067497 67497900 67499408 0.2 [{'connected_gene': 'ACY3', 'score': 5.16}, {'connected_gene': 'MIR6752', 'score': 0.44}, {'connected_gene': 'PITPNM1', 'score': 0.44}]
chr11 GH11I067077 67077083 67079599 1.54 [{'connected_gene': 'RHOD', 'score': 18.58}, {'connected_gene': 'KDM2A', 'score': 14.67}, {'connected_gene': 'ANKRD13D', 'score': 12.52}, {'connected_gene': 'CDK2AP2', 'score': 4.25}, {'connected_gene': 'GRK2', 'score': 3.7}, {'connected_gene': 'RBM4', 'score': 1.79}, {'connected_gene': 'CLCF1', 'score': 1.76}, {'connected_gene': 'SSH3', 'score': 1.63}, {'connected_gene': 'TMEM134', 'score': 1.43}, {'connected_gene': 'PITPNM1', 'score': 1.1}, {'connected_gene': 'GC11P067094', 'score': 0.37}]
chr11 GH11I067265 67265720 67291208 2.6 [{'connected_gene': 'GRK2', 'score': 563.68}, {'connected_gene': 'ANKRD13D', 'score': 562.59}, {'connected_gene': 'SSH3', 'score': 14.94}, {'connected_gene': 'KDM2A', 'score': 13.24}, {'connected_gene': 'PTPRCAP', 'score': 11.31}, {'connected_gene': 'RHOD', 'score': 8.24}, {'connected_gene': 'CARNS1', 'score': 7.45}, {'connected_gene': 'C11orf80', 'score': 7.27}, {'connected_gene': 'PC', 'score': 6.98}, {'connected_gene': 'RAD9A', 'score': 5.91}, {'connected_gene': 'PITPNM1', 'score': 5.14}, {'connected_gene': 'LOC102724064', 'score': 4.58}, {'connected_gene': 'CTSF', 'score': 4.02}, {'connected_gene': 'TBC1D10C', 'score': 3.53}]
chr11 GH11I067503 67503960 67511403 2.31 [{'connected_gene': 'CDK2AP2', 'score': 557.65}, {'connected_gene': 'PITPNM1', 'score': 550.77}, {'connected_gene': 'PPP6R3', 'score': 24.17}, {'connected_gene': 'RBM14', 'score': 13.36}, {'connected_gene': 'CTSF', 'score': 11.79}, {'connected_gene': 'KDM2A', 'score': 11.68}, {'connected_gene': 'RHOD', 'score': 11.4}, {'connected_gene': 'RBM4', 'score': 10.24}, {'connected_gene': 'LRP5', 'score': 10.2}, {'connected_gene': 'PTPRCAP', 'score': 4.34}]
chr11 GH11I067488 67488968 67492884 0.54 [{'connected_gene': 'MIR6752', 'score': 550.77}, {'connected_gene': 'PTPRCAP', 'score': 28.4}, {'connected_gene': 'CARNS1', 'score': 11.23}, {'connected_gene': 'C11orf80', 'score': 5.3}, {'connected_gene': 'CDK2AP2', 'score': 4.81}, {'connected_gene': 'AIP', 'score': 0.44}, {'connected_gene': 'PITPNM1', 'score': 0.37}]

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