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
ENST00000564044 [[50280058, 50280114], [50326586, 50326736], [50327264, 50327413], [50328550, 50328662], [50332814, 50332922]] None
ENST00000394697 [[50300426, 50300498], [50321822, 50322261], [50324367, 50324571], [50325646, 50325808], [50326586, 50326736], [50327264, 50327413], [50328550, 50328662], [50332814, 50332942], [50334625, 50334784], [50334992, 50335125], [50338270, 50338462], [50338835, 50338870], [50339413, 50339497], [50339687, 50339760], [50340960, 50341058], [50342237, 50342322], [50342577, 50342703], [50343458, 50343557], [50344597, 50344791], [50345603, 50345697], [50345946, 50346102], [50346800, 50346947], [50347868, 50347973], [50348202, 50348317], [50348924, 50349049], [50349269, 50352046]] [[50322090, 50322261], [50324367, 50324571], [50325646, 50325808], [50326586, 50326736], [50327264, 50327413], [50328550, 50328662], [50332814, 50332942], [50334625, 50334784], [50334992, 50335125], [50338270, 50338462], [50338835, 50338870], [50339413, 50339497], [50339687, 50339760], [50340960, 50341058], [50342237, 50342322], [50342577, 50342703], [50343458, 50343557], [50344597, 50344791], [50345603, 50345697], [50345946, 50346102], [50346800, 50346947], [50347868, 50347973], [50348202, 50348317], [50348924, 50349049], [50349269, 50349416]]
ENST00000538642 [[50300461, 50300498], [50321822, 50321998], [50322037, 50322261], [50324367, 50324571], [50325646, 50325808], [50326586, 50326736], [50327264, 50327413], [50328550, 50328662], [50332814, 50332942], [50334625, 50334784], [50334992, 50335125], [50338270, 50338462], [50338835, 50338870], [50339413, 50339497], [50339687, 50339760], [50340960, 50341058], [50342237, 50342322], [50342577, 50342703], [50343458, 50343557], [50344364, 50344434]] [[50322090, 50322261], [50324367, 50324571], [50325646, 50325808], [50326586, 50326736], [50327264, 50327413], [50328550, 50328662], [50332814, 50332942], [50334625, 50334784], [50334992, 50335125], [50338270, 50338462], [50338835, 50338870], [50339413, 50339497], [50339687, 50339760], [50340960, 50341058], [50342237, 50342322], [50342577, 50342703], [50343458, 50343557], [50344364, 50344409]]
ENST00000566433 [[50300461, 50300498], [50321822, 50322261], [50324367, 50324571], [50325646, 50325808], [50326586, 50326736], [50327264, 50327413], [50328550, 50328662], [50332814, 50332942], [50334625, 50334784], [50334992, 50335125], [50338270, 50338462], [50338835, 50338870], [50339413, 50339497], [50339687, 50339760], [50340960, 50341058], [50342237, 50342322], [50342577, 50342703], [50343458, 50343557], [50344364, 50344434]] [[50322090, 50322261], [50324367, 50324571], [50325646, 50325808], [50326586, 50326736], [50327264, 50327413], [50328550, 50328662], [50332814, 50332942], [50334625, 50334784], [50334992, 50335125], [50338270, 50338462], [50338835, 50338870], [50339413, 50339497], [50339687, 50339760], [50340960, 50341058], [50342237, 50342322], [50342577, 50342703], [50343458, 50343557], [50344364, 50344409]]
ENST00000563677 [[50308041, 50308109], [50326586, 50326736], [50327264, 50327413], [50328550, 50328662], [50332814, 50332892]] None
ENST00000537579 [[50321821, 50322261], [50324367, 50324571], [50325646, 50325808], [50326586, 50326736], [50327264, 50327413], [50328550, 50328662], [50332814, 50332942], [50334625, 50334784], [50334992, 50335035], [50339687, 50339760], [50340960, 50341058], [50342237, 50342322], [50342577, 50342703], [50343458, 50343557], [50344364, 50344426]] [[50322090, 50322261], [50324367, 50324571], [50325646, 50325808], [50326586, 50326736], [50327264, 50327413], [50328550, 50328662], [50332814, 50332942], [50334625, 50334784], [50334992, 50335035], [50339687, 50339711]]
ENST00000254235 [[50321822, 50322261], [50324367, 50324571], [50325646, 50325808], [50326586, 50326736], [50327264, 50327413], [50328550, 50328662], [50332814, 50332942], [50334625, 50334784], [50334992, 50335125], [50338270, 50338462], [50338835, 50338870], [50339413, 50339497], [50339687, 50339760], [50340960, 50341058], [50342237, 50342322], [50342577, 50342703], [50343458, 50343557], [50344597, 50344791], [50345603, 50345697], [50345946, 50346102], [50346800, 50346947], [50347868, 50347973], [50348202, 50348317], [50348924, 50349049], [50349269, 50352035]] [[50322090, 50322261], [50324367, 50324571], [50325646, 50325808], [50326586, 50326736], [50327264, 50327413], [50328550, 50328662], [50332814, 50332942], [50334625, 50334784], [50334992, 50335125], [50338270, 50338462], [50338835, 50338870], [50339413, 50339497], [50339687, 50339760], [50340960, 50341058], [50342237, 50342322], [50342577, 50342703], [50343458, 50343557], [50344597, 50344791], [50345603, 50345697], [50345946, 50346102], [50346800, 50346947], [50347868, 50347973], [50348202, 50348317], [50348924, 50349049], [50349269, 50349416]]
ENST00000567277 [[50321987, 50322261], [50324367, 50324571], [50325646, 50325808], [50326586, 50326736], [50327264, 50327413], [50328550, 50328662], [50332814, 50332942], [50334625, 50334784], [50334992, 50335125], [50338270, 50338427], [50338835, 50338870], [50339413, 50339497], [50339687, 50339760], [50340960, 50341058], [50342237, 50342322], [50342577, 50342703], [50343458, 50343557], [50344364, 50344440]] [[50322090, 50322261], [50324367, 50324571], [50325646, 50325808], [50326586, 50326736], [50327264, 50327413], [50328550, 50328662], [50332814, 50332942], [50334625, 50334784], [50334992, 50335125], [50338270, 50338427], [50338835, 50338870], [50339413, 50339446]]
ENST00000564965 [[50280047, 50280114], [50321822, 50322261], [50324367, 50324439]] [[50322090, 50322261], [50324367, 50324439]]
ENST00000562623 [[50300451, 50300591], [50321822, 50322015]] None
ENST00000568933 [[50300474, 50300591], [50321792, 50321845]] None
ENST00000566761 [[50308063, 50308109], [50321792, 50322261], [50323131, 50323224], [50324367, 50324429]] [[50322090, 50322261], [50323131, 50323224], [50324367, 50324429]]
ENST00000569265 [[50313437, 50313615], [50321822, 50322141]] [[50322090, 50322141]]
ENST00000568731 [[50334730, 50334784], [50334992, 50335125], [50335578, 50335875]] None
ENST00000570187 [[50338304, 50338462], [50338835, 50338870], [50339413, 50339497], [50339687, 50339760], [50340960, 50341058], [50342237, 50343109]] None
ENST00000568930 [[50347014, 50347973], [50348202, 50348317], [50348924, 50349049], [50349269, 50349649]] None
NM_001286057 [[50300450, 50300498], [50321822, 50322261], [50324367, 50324571], [50325646, 50325808], [50326586, 50326736], [50327264, 50327413], [50328550, 50328662], [50332814, 50332942], [50334625, 50334784], [50334992, 50335125], [50338270, 50338462], [50338835, 50338870], [50339413, 50339497], [50339687, 50339760], [50340960, 50341058], [50342237, 50342322], [50342577, 50342703], [50343458, 50343557], [50344364, 50344440]] [[50322090, 50322261], [50324367, 50324571], [50325646, 50325808], [50326586, 50326736], [50327264, 50327413], [50328550, 50328662], [50332814, 50332942], [50334625, 50334784], [50334992, 50335125], [50338270, 50338462], [50338835, 50338870], [50339413, 50339497], [50339687, 50339760], [50340960, 50341058], [50342237, 50342322], [50342577, 50342703], [50343458, 50343557], [50344364, 50344409]]
NM_001114 [[50321822, 50322261], [50324367, 50324571], [50325646, 50325808], [50326586, 50326736], [50327264, 50327413], [50328550, 50328662], [50332814, 50332942], [50334625, 50334784], [50334992, 50335125], [50338270, 50338462], [50338835, 50338870], [50339413, 50339497], [50339687, 50339760], [50340960, 50341058], [50342237, 50342322], [50342577, 50342703], [50343458, 50343557], [50344597, 50344791], [50345603, 50345697], [50345946, 50346102], [50346800, 50346947], [50347868, 50347973], [50348202, 50348317], [50348924, 50349049], [50349269, 50352046]] [[50322090, 50322261], [50324367, 50324571], [50325646, 50325808], [50326586, 50326736], [50327264, 50327413], [50328550, 50328662], [50332814, 50332942], [50334625, 50334784], [50334992, 50335125], [50338270, 50338462], [50338835, 50338870], [50339413, 50339497], [50339687, 50339760], [50340960, 50341058], [50342237, 50342322], [50342577, 50342703], [50343458, 50343557], [50344597, 50344791], [50345603, 50345697], [50345946, 50346102], [50346800, 50346947], [50347868, 50347973], [50348202, 50348317], [50348924, 50349049], [50349269, 50349416]]
Promoter
Chrom Start End Description
chr16 50300440 50300485 CAGE_peak_1_at_ADCY7_5end
chr16 50300495 50300506 CAGE_peak_3_at_ADCY7_5end
chr16 50308028 50308093 CAGE_peak_2_at_ADCY7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I050258 50258950 50260456 1.01 [{'connected_gene': 'NKD1', 'score': 4.88}, {'connected_gene': 'HEATR3', 'score': 4.84}, {'connected_gene': 'GC16P050277', 'score': 0.44}, {'connected_gene': 'ADCY7', 'score': 0.39}]
chr16 GH16I050261 50261694 50262345 0.63 [{'connected_gene': 'PAPD5', 'score': 11.2}, {'connected_gene': 'ENSG00000252526', 'score': 11.19}, {'connected_gene': 'BRD7', 'score': 10.85}, {'connected_gene': 'NKD1', 'score': 4.8}, {'connected_gene': 'GC16P050277', 'score': 0.44}, {'connected_gene': 'ADCY7', 'score': 0.37}]
chr16 GH16I050262 50262741 50263032 0.57 [{'connected_gene': 'PAPD5', 'score': 11.2}, {'connected_gene': 'ENSG00000252526', 'score': 11.19}, {'connected_gene': 'BRD7', 'score': 10.85}, {'connected_gene': 'CNEP1R1', 'score': 10.67}, {'connected_gene': 'GC16P050277', 'score': 0.44}, {'connected_gene': 'ADCY7', 'score': 0.37}]
chr16 GH16I050265 50262604 50262706 0.2 [{'connected_gene': 'PAPD5', 'score': 11.2}, {'connected_gene': 'ENSG00000252526', 'score': 11.19}, {'connected_gene': 'BRD7', 'score': 10.85}, {'connected_gene': 'GC16P050277', 'score': 0.44}, {'connected_gene': 'ADCY7', 'score': 0.37}]
chr16 GH16I050702 50702001 50704090 0.85 [{'connected_gene': 'NOD2', 'score': 16.22}, {'connected_gene': 'CYLD', 'score': 3.43}, {'connected_gene': 'SNX20', 'score': 3.08}, {'connected_gene': 'ADCY7', 'score': 1.34}, {'connected_gene': 'PIR45400', 'score': 0.77}, {'connected_gene': 'GC16P050707', 'score': 0.77}]
chr16 GH16I050695 50695230 50700663 2.66 [{'connected_gene': 'NOD2', 'score': 611.99}, {'connected_gene': 'SNX20', 'score': 21.2}, {'connected_gene': 'CYLD', 'score': 10.32}, {'connected_gene': 'ADCY7', 'score': 3.43}, {'connected_gene': 'PIR45400', 'score': 0.44}, {'connected_gene': 'GC16P050707', 'score': 0.44}]
chr16 GH16I050201 50201557 50205606 1.07 [{'connected_gene': 'HEATR3', 'score': 23.77}, {'connected_gene': 'ENSG00000252526', 'score': 11.91}, {'connected_gene': 'PAPD5', 'score': 11.91}, {'connected_gene': 'CNEP1R1', 'score': 11.32}, {'connected_gene': 'BRD7', 'score': 10.54}, {'connected_gene': 'GC16M050159', 'score': 0.37}, {'connected_gene': 'ADCY7', 'score': 0.26}]
chr16 GH16I050207 50207420 50211062 1.05 [{'connected_gene': 'HEATR3', 'score': 26.68}, {'connected_gene': 'ENSG00000252526', 'score': 12.08}, {'connected_gene': 'PAPD5', 'score': 12.08}, {'connected_gene': 'CNEP1R1', 'score': 11.27}, {'connected_gene': 'BRD7', 'score': 10.97}, {'connected_gene': 'GC16M050159', 'score': 0.34}, {'connected_gene': 'ADCY7', 'score': 0.28}]
chr16 GH16I050196 50194967 50197342 0.79 [{'connected_gene': 'HEATR3', 'score': 14.29}, {'connected_gene': 'GC16M050159', 'score': 0.39}, {'connected_gene': 'PAPD5', 'score': 0.26}, {'connected_gene': 'ADCY7', 'score': 0.25}]
chr16 GH16I050193 50193600 50194000 0.2 [{'connected_gene': 'HEATR3', 'score': 11.97}, {'connected_gene': 'GC16M050159', 'score': 0.44}, {'connected_gene': 'PAPD5', 'score': 0.26}, {'connected_gene': 'ADCY7', 'score': 0.23}]
chr16 GH16I050093 50093146 50094639 1.05 [{'connected_gene': 'HEATR3', 'score': 55.81}, {'connected_gene': 'CNEP1R1', 'score': 1.79}, {'connected_gene': 'ADCY7', 'score': 1.72}, {'connected_gene': 'GC16P050098', 'score': 0.77}, {'connected_gene': 'ENSG00000279356', 'score': 0.34}]
chr16 GH16I050280 50280460 50285305 1.48 [{'connected_gene': 'HEATR3', 'score': 4.55}, {'connected_gene': 'ADCY7', 'score': 4.15}, {'connected_gene': 'CYLD', 'score': 1.87}, {'connected_gene': 'PAPD5', 'score': 1.62}, {'connected_gene': 'NOD2', 'score': 1.43}, {'connected_gene': 'CNEP1R1', 'score': 1.38}, {'connected_gene': 'SNX20', 'score': 1.29}, {'connected_gene': 'GC16M050269', 'score': 0.77}, {'connected_gene': 'MIR6771', 'score': 0.44}, {'connected_gene': 'GC16P050277', 'score': 0.39}]
chr16 GH16I050309 50309379 50311154 0.83 [{'connected_gene': 'BRD7', 'score': 27.81}, {'connected_gene': 'PAPD5', 'score': 10.94}, {'connected_gene': 'MIR6771', 'score': 0.37}, {'connected_gene': 'GC16P050338', 'score': 0.31}, {'connected_gene': 'ADCY7', 'score': 0.2}]
chr16 GH16I050312 50312106 50316861 1.03 [{'connected_gene': 'BRD7', 'score': 38.66}, {'connected_gene': 'ENSG00000252526', 'score': 10.79}, {'connected_gene': 'PAPD5', 'score': 10.79}, {'connected_gene': 'LOC101927250', 'score': 5.01}, {'connected_gene': 'MIR6771', 'score': 0.34}, {'connected_gene': 'GC16P050338', 'score': 0.34}, {'connected_gene': 'ADCY7', 'score': 0.2}]
chr16 GH16I050300 50300980 50302383 0.52 [{'connected_gene': 'BRD7', 'score': 11.89}, {'connected_gene': 'CNEP1R1', 'score': 10.37}, {'connected_gene': 'HEATR3', 'score': 4.58}, {'connected_gene': 'MIR6771', 'score': 0.44}, {'connected_gene': 'GC16P050338', 'score': 0.28}, {'connected_gene': 'ADCY7', 'score': 0.22}]
chr16 GH16I050264 50263053 50263444 0.86 [{'connected_gene': 'BRD7', 'score': 21.55}, {'connected_gene': 'CNEP1R1', 'score': 10.19}, {'connected_gene': 'GC16P050277', 'score': 0.44}, {'connected_gene': 'ADCY7', 'score': 0.37}]
chr16 GH16I050296 50296322 50299042 0.8 [{'connected_gene': 'BRD7', 'score': 10.94}, {'connected_gene': 'CNEP1R1', 'score': 10.37}, {'connected_gene': 'ENSG00000260573', 'score': 5.46}, {'connected_gene': 'MIR6771', 'score': 0.44}, {'connected_gene': 'GC16P050338', 'score': 0.26}, {'connected_gene': 'ADCY7', 'score': 0.23}]
chr16 GH16I050228 50228167 50229207 0.71 [{'connected_gene': 'CNEP1R1', 'score': 11.07}, {'connected_gene': 'ENSG00000252526', 'score': 11.01}, {'connected_gene': 'PAPD5', 'score': 11.01}, {'connected_gene': 'HEATR3', 'score': 10.82}, {'connected_gene': 'BRD7', 'score': 10.79}, {'connected_gene': 'ADCY7', 'score': 0.37}, {'connected_gene': 'GC16M050159', 'score': 0.26}]
chr16 GH16I050740 50740629 50748340 2.69 [{'connected_gene': 'CYLD', 'score': 561.57}, {'connected_gene': 'LOC102724907', 'score': 560.98}, {'connected_gene': 'NOD2', 'score': 38.31}, {'connected_gene': 'PAPD5', 'score': 19.54}, {'connected_gene': 'SNX20', 'score': 18.92}, {'connected_gene': 'BRD7', 'score': 10.1}, {'connected_gene': 'ADCY7', 'score': 2.35}, {'connected_gene': 'MIR3181', 'score': 0.77}, {'connected_gene': 'LOC105371251', 'score': 0.21}]
chr16 GH16I050678 50678224 50686983 2.58 [{'connected_gene': 'SNX20', 'score': 581.45}, {'connected_gene': 'NOD2', 'score': 59.37}, {'connected_gene': 'BRD7', 'score': 19.9}, {'connected_gene': 'CYLD', 'score': 10.73}, {'connected_gene': 'ADCY7', 'score': 2.75}]
chr16 GH16I050263 50263790 50269590 2.47 [{'connected_gene': 'ADCY7', 'score': 552.93}, {'connected_gene': 'PAPD5', 'score': 19.33}, {'connected_gene': 'CNEP1R1', 'score': 11.83}, {'connected_gene': 'BRD7', 'score': 10.84}, {'connected_gene': 'NKD1', 'score': 5.22}, {'connected_gene': 'CYLD', 'score': 3.41}, {'connected_gene': 'GC16P050277', 'score': 0.77}]
chr16 GH16I050250 50250711 50252723 0.63 [{'connected_gene': 'ADCY7', 'score': 13.68}, {'connected_gene': 'HEATR3', 'score': 12.19}, {'connected_gene': 'GC16P050277', 'score': 0.37}]
chr16 GH16I050270 50270391 50280101 2.33 [{'connected_gene': 'ADCY7', 'score': 550.29}, {'connected_gene': 'BRD7', 'score': 8.27}, {'connected_gene': 'NKD1', 'score': 5.38}, {'connected_gene': 'GC16M050269', 'score': 0.77}, {'connected_gene': 'GC16P050277', 'score': 0.44}]
chr16 GH16I050287 50287893 50287952 0.7 [{'connected_gene': 'ADCY7', 'score': 550.26}, {'connected_gene': 'BRD7', 'score': 10.97}, {'connected_gene': 'MIR6771', 'score': 0.77}, {'connected_gene': 'GC16M050269', 'score': 0.44}, {'connected_gene': 'GC16P050277', 'score': 0.37}]
chr16 GH16I050243 50243975 50247010 1.65 [{'connected_gene': 'ADCY7', 'score': 550.77}, {'connected_gene': 'GC16P050277', 'score': 0.34}]
chr16 GH16I050253 50253475 50254342 1.05 [{'connected_gene': 'ADCY7', 'score': 0.44}, {'connected_gene': 'GC16P050277', 'score': 0.39}]
chr16 GH16I050293 50293572 50294446 0.38 [{'connected_gene': 'MIR6771', 'score': 550.77}, {'connected_gene': 'BRD7', 'score': 10.98}, {'connected_gene': 'ENSG00000260573', 'score': 5.49}, {'connected_gene': 'GC16P050338', 'score': 0.26}, {'connected_gene': 'ADCY7', 'score': 0.25}]
chr16 GH16I050289 50289623 50292680 0.86 [{'connected_gene': 'MIR6771', 'score': 550.77}, {'connected_gene': 'BRD7', 'score': 10.97}, {'connected_gene': 'ENSG00000260573', 'score': 5.46}, {'connected_gene': 'GC16M050269', 'score': 0.39}, {'connected_gene': 'GC16P050277', 'score': 0.34}, {'connected_gene': 'ADCY7', 'score': 0.25}]
chr16 GH16I050303 50303120 50304657 0.77 [{'connected_gene': 'MIR6771', 'score': 0.39}, {'connected_gene': 'GC16P050338', 'score': 0.29}, {'connected_gene': 'ADCY7', 'score': 0.22}]
chr16 GH16I050214 50214050 50214199 0.69 [{'connected_gene': 'ENSG00000252526', 'score': 11.5}, {'connected_gene': 'PAPD5', 'score': 11.5}, {'connected_gene': 'HEATR3', 'score': 11.18}, {'connected_gene': 'BRD7', 'score': 11.02}, {'connected_gene': 'CNEP1R1', 'score': 10.78}, {'connected_gene': 'GC16M050159', 'score': 0.31}, {'connected_gene': 'ADCY7', 'score': 0.29}]
chr16 GH16I050206 50206601 50206800 0.2 [{'connected_gene': 'ENSG00000252526', 'score': 11.91}, {'connected_gene': 'PAPD5', 'score': 11.91}, {'connected_gene': 'HEATR3', 'score': 11.5}, {'connected_gene': 'CNEP1R1', 'score': 11.26}, {'connected_gene': 'BRD7', 'score': 10.54}, {'connected_gene': 'GC16M050159', 'score': 0.34}, {'connected_gene': 'ADCY7', 'score': 0.28}]
chr16 GH16I050266 50261045 50261175 0.31 [{'connected_gene': 'ENSG00000252526', 'score': 11.2}, {'connected_gene': 'PAPD5', 'score': 11.2}, {'connected_gene': 'BRD7', 'score': 10.85}, {'connected_gene': 'GC16P050277', 'score': 0.44}, {'connected_gene': 'ADCY7', 'score': 0.37}]
chr16 GH16I050267 50261365 50261492 0.38 [{'connected_gene': 'ENSG00000252526', 'score': 11.2}, {'connected_gene': 'PAPD5', 'score': 11.2}, {'connected_gene': 'BRD7', 'score': 10.85}, {'connected_gene': 'GC16P050277', 'score': 0.44}, {'connected_gene': 'ADCY7', 'score': 0.37}]
chr16 GH16I050194 50194209 50194313 0.38 [{'connected_gene': 'GC16M050159', 'score': 0.44}, {'connected_gene': 'PAPD5', 'score': 0.26}, {'connected_gene': 'ADCY7', 'score': 0.23}]
chr16 GH16I050195 50194570 50194720 0.54 [{'connected_gene': 'GC16M050159', 'score': 0.44}, {'connected_gene': 'PAPD5', 'score': 0.26}, {'connected_gene': 'ADCY7', 'score': 0.23}]
chr16 GH16I050333 50333444 50340173 1.27 [{'connected_gene': 'GC16P050338', 'score': 550.77}, {'connected_gene': 'BRD7', 'score': 44.43}, {'connected_gene': 'PAPD5', 'score': 2.99}, {'connected_gene': 'CYLD', 'score': 2.89}, {'connected_gene': 'ADCY7', 'score': 2.18}, {'connected_gene': 'MIR6771', 'score': 0.26}]
chr16 GH16I050198 50198930 50199019 0.46 [{'connected_gene': 'GC16M050159', 'score': 0.39}, {'connected_gene': 'ADCY7', 'score': 0.25}, {'connected_gene': 'PAPD5', 'score': 0.25}]

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