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
ENST00000409558 [[64119279, 64120669], [64124629, 64124724], [64126607, 64126715], [64139478, 64139559], [64139673, 64139795], [64140356, 64140444], [64141315, 64141421], [64144033, 64144097], [64147016, 64147129], [64147579, 64147761], [64148339, 64148469], [64160806, 64161147], [64169598, 64169695], [64171733, 64171789], [64174516, 64174624], [64176170, 64176297], [64189191, 64189577], [64192968, 64193100], [64196090, 64196125], [64199299, 64199378], [64208779, 64208985], [64210997, 64211153], [64246071, 64246206]] [[64120563, 64120669], [64124629, 64124724], [64126607, 64126715], [64139478, 64139559], [64139673, 64139795], [64140356, 64140444], [64141315, 64141421], [64144033, 64144097], [64147016, 64147129], [64147579, 64147761], [64148339, 64148469], [64160806, 64161147], [64169598, 64169695], [64171733, 64171789], [64174516, 64174624], [64176170, 64176297], [64189191, 64189577], [64192968, 64193100], [64196090, 64196125], [64199299, 64199378], [64208779, 64208985], [64210997, 64211133]]
ENST00000272322 [[64120189, 64120669], [64124629, 64124724], [64126607, 64126715], [64139478, 64139559], [64139673, 64139795], [64140356, 64140444], [64141315, 64141421], [64144033, 64144097], [64147016, 64147129], [64147579, 64147761], [64148339, 64148469], [64160806, 64161147], [64169598, 64169695], [64171733, 64171789], [64174516, 64174624], [64176170, 64176297], [64189191, 64189577], [64192968, 64193100], [64196090, 64196125], [64199299, 64199378], [64208779, 64209021], [64210997, 64211153], [64246071, 64246206]] [[64120563, 64120669], [64124629, 64124724], [64126607, 64126715], [64139478, 64139559], [64139673, 64139795], [64140356, 64140444], [64141315, 64141421], [64144033, 64144097], [64147016, 64147129], [64147579, 64147761], [64148339, 64148469], [64160806, 64161147], [64169598, 64169695], [64171733, 64171789], [64174516, 64174624], [64176170, 64176297], [64189191, 64189577], [64192968, 64193100], [64196090, 64196125], [64199299, 64199378], [64208779, 64209021], [64210997, 64211133]]
ENST00000354504 [[64120034, 64120669], [64124629, 64124724], [64126607, 64126715], [64139478, 64139559], [64139673, 64139795], [64140356, 64140444], [64141315, 64141421], [64144033, 64144097], [64147016, 64147129], [64147579, 64147761], [64148339, 64148469], [64160806, 64161147], [64169598, 64169695], [64171733, 64171789], [64176170, 64176297], [64189191, 64189577], [64192968, 64193100], [64196090, 64196125], [64199299, 64199378], [64202119, 64202736]] [[64120563, 64120669], [64124629, 64124724], [64126607, 64126715], [64139478, 64139559], [64139673, 64139795], [64140356, 64140444], [64141315, 64141421], [64144033, 64144097], [64147016, 64147129], [64147579, 64147761], [64148339, 64148469], [64160806, 64161147], [64169598, 64169695], [64171733, 64171789], [64176170, 64176297], [64189191, 64189577], [64192968, 64193100], [64196090, 64196125], [64199299, 64199378], [64202119, 64202146]]
ENST00000416400 [[64120205, 64120669], [64124629, 64124724], [64126607, 64126715], [64139478, 64139559], [64139673, 64139795], [64140356, 64140444], [64140958, 64141059], [64141315, 64141421], [64144033, 64144097], [64147016, 64147064]] [[64141032, 64141059], [64141315, 64141421], [64144033, 64144097], [64147016, 64147064]]
NM_016516 [[64119666, 64120669], [64124629, 64124724], [64126607, 64126715], [64139478, 64139559], [64139673, 64139795], [64140356, 64140444], [64141315, 64141421], [64144033, 64144097], [64147016, 64147129], [64147579, 64147761], [64148339, 64148469], [64160806, 64161147], [64169598, 64169695], [64171733, 64171789], [64174516, 64174624], [64176170, 64176297], [64189191, 64189577], [64192968, 64193100], [64196090, 64196125], [64199299, 64199378], [64208779, 64209021], [64210997, 64211153], [64246071, 64246214]] [[64120563, 64120669], [64124629, 64124724], [64126607, 64126715], [64139478, 64139559], [64139673, 64139795], [64140356, 64140444], [64141315, 64141421], [64144033, 64144097], [64147016, 64147129], [64147579, 64147761], [64148339, 64148469], [64160806, 64161147], [64169598, 64169695], [64171733, 64171789], [64174516, 64174624], [64176170, 64176297], [64189191, 64189577], [64192968, 64193100], [64196090, 64196125], [64199299, 64199378], [64208779, 64209021], [64210997, 64211133]]
NM_001005739 [[64119666, 64120669], [64124629, 64124724], [64126607, 64126715], [64139478, 64139559], [64139673, 64139795], [64140356, 64140444], [64141315, 64141421], [64144033, 64144097], [64147016, 64147129], [64147579, 64147761], [64148339, 64148469], [64160806, 64161147], [64169598, 64169695], [64171733, 64171789], [64174516, 64174624], [64176170, 64176297], [64189191, 64189577], [64192968, 64193100], [64196090, 64196125], [64199299, 64199378], [64208779, 64208985], [64210997, 64211153], [64246071, 64246214]] [[64120563, 64120669], [64124629, 64124724], [64126607, 64126715], [64139478, 64139559], [64139673, 64139795], [64140356, 64140444], [64141315, 64141421], [64144033, 64144097], [64147016, 64147129], [64147579, 64147761], [64148339, 64148469], [64160806, 64161147], [64169598, 64169695], [64171733, 64171789], [64174516, 64174624], [64176170, 64176297], [64189191, 64189577], [64192968, 64193100], [64196090, 64196125], [64199299, 64199378], [64208779, 64208985], [64210997, 64211133]]
Promoter
Chrom Start End Description
chr2 64246309 64246350 CAGE_peak_3_at_VPS54_5end
chr2 64246489 64246579 CAGE_peak_1_at_VPS54_5end
chr2 64246638 64246688 CAGE_peak_2_at_VPS54_5end
chr2 64246692 64246701 CAGE_peak_5_at_VPS54_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I064697 64697262 64701038 1.59 [{'connected_gene': 'SERTAD2', 'score': 13.42}, {'connected_gene': 'VPS54', 'score': 12.13}, {'connected_gene': 'SLC1A4', 'score': 7.8}, {'connected_gene': 'RAB1A', 'score': 6.33}, {'connected_gene': 'PELI1', 'score': 4.66}, {'connected_gene': 'AFTPH', 'score': 2.43}, {'connected_gene': 'GC02P064667', 'score': 0.29}]
chr2 GH02I064635 64635771 64660224 2.75 [{'connected_gene': 'SERTAD2', 'score': 587.26}, {'connected_gene': 'VPS54', 'score': 29.09}, {'connected_gene': 'AFTPH', 'score': 20.84}, {'connected_gene': 'LINC02576', 'score': 10.55}, {'connected_gene': 'ENSG00000251775', 'score': 9.87}, {'connected_gene': 'LOC105374775', 'score': 0.77}, {'connected_gene': 'RPS10P9', 'score': 0.37}]
chr2 GH02I064747 64747416 64753052 1.93 [{'connected_gene': 'SERTAD2', 'score': 550.77}, {'connected_gene': 'VPS54', 'score': 12.15}, {'connected_gene': 'CEP68', 'score': 1.88}, {'connected_gene': 'GC02P064667', 'score': 0.18}]
chr2 GH02I063698 63698171 63700005 1.09 [{'connected_gene': 'UGP2', 'score': 17.29}, {'connected_gene': 'VPS54', 'score': 16.38}, {'connected_gene': 'GC02P063684', 'score': 0.39}, {'connected_gene': 'LOC100418973', 'score': 0.37}, {'connected_gene': 'WDPCP', 'score': 0.11}]
chr2 GH02I063839 63839921 63844459 2.31 [{'connected_gene': 'UGP2', 'score': 556.39}, {'connected_gene': 'WDPCP', 'score': 554.91}, {'connected_gene': 'VPS54', 'score': 16.42}, {'connected_gene': 'MDH1', 'score': 6.07}, {'connected_gene': 'LOC100507006', 'score': 4.22}, {'connected_gene': 'ENSG00000251775', 'score': 0.26}]
chr2 GH02I064987 64987007 64991106 2.04 [{'connected_gene': 'SLC1A4', 'score': 603.21}, {'connected_gene': 'GC02M064985', 'score': 550.77}, {'connected_gene': 'VPS54', 'score': 16.35}, {'connected_gene': 'RNU6-548P', 'score': 0.44}]
chr2 GH02I064012 64012032 64012113 0.22 [{'connected_gene': 'PELI1', 'score': 2.04}, {'connected_gene': 'PIR48907', 'score': 0.77}, {'connected_gene': 'GC02M064016', 'score': 0.77}, {'connected_gene': 'VPS54', 'score': 0.44}, {'connected_gene': 'GC02M063913', 'score': 0.18}, {'connected_gene': 'GC02M063958', 'score': 0.13}]
chr2 GH02I064830 64830349 64832839 1.78 [{'connected_gene': 'VPS54', 'score': 23.26}, {'connected_gene': 'SERTAD2', 'score': 15.13}, {'connected_gene': 'RN7SL211P', 'score': 10.28}, {'connected_gene': 'LINC02576', 'score': 9.89}, {'connected_gene': 'SLC1A4', 'score': 6.39}, {'connected_gene': 'RAB1A', 'score': 5.7}, {'connected_gene': 'LINC01800', 'score': 4.72}, {'connected_gene': 'ACTR2', 'score': 2.49}, {'connected_gene': 'AFTPH', 'score': 2.3}, {'connected_gene': 'ENSG00000199964', 'score': 0.77}, {'connected_gene': 'GC02M064835', 'score': 0.77}, {'connected_gene': 'RN7SL341P', 'score': 0.39}]
chr2 GH02I064792 64792499 64794791 0.7 [{'connected_gene': 'VPS54', 'score': 16.35}, {'connected_gene': 'SERTAD2', 'score': 11.09}, {'connected_gene': 'LOC105374776', 'score': 0.77}, {'connected_gene': 'RN7SL341P', 'score': 0.34}]
chr2 GH02I064851 64851838 64855599 1.58 [{'connected_gene': 'VPS54', 'score': 23.26}, {'connected_gene': 'RAB1A', 'score': 10.65}, {'connected_gene': 'ACTR2', 'score': 7.59}, {'connected_gene': 'LINC01800', 'score': 7.14}, {'connected_gene': 'SLC1A4', 'score': 7.1}, {'connected_gene': 'AFTPH', 'score': 6.03}, {'connected_gene': 'SERTAD2', 'score': 5.68}, {'connected_gene': 'GC02P064841', 'score': 0.39}]
chr2 GH02I064017 64017424 64020819 2.03 [{'connected_gene': 'VPS54', 'score': 550.77}, {'connected_gene': 'WDPCP', 'score': 15.56}, {'connected_gene': 'ENSG00000228079', 'score': 0.2}, {'connected_gene': 'GC02M063958', 'score': 0.14}]
chr2 GH02I064516 64516207 64517512 0.82 [{'connected_gene': 'VPS54', 'score': 19.34}, {'connected_gene': 'RN7SL211P', 'score': 10.44}, {'connected_gene': 'AFTPH', 'score': 9.12}, {'connected_gene': 'LINC01805', 'score': 0.29}]
chr2 GH02I064875 64875385 64877032 0.74 [{'connected_gene': 'VPS54', 'score': 12.03}, {'connected_gene': 'LINC01800', 'score': 0.39}, {'connected_gene': 'RN7SL211P', 'score': 0.29}]
chr2 GH02I064227 64227481 64229375 1.55 [{'connected_gene': 'VPS54', 'score': 11.13}, {'connected_gene': 'LOC100507006', 'score': 10.73}, {'connected_gene': 'ENSG00000270354', 'score': 0.37}, {'connected_gene': 'GC02M064246', 'score': 0.29}]
chr2 GH02I063950 63950254 63951127 0.72 [{'connected_gene': 'VPS54', 'score': 9.92}, {'connected_gene': 'GC02M063913', 'score': 0.39}, {'connected_gene': 'PIR48907', 'score': 0.21}, {'connected_gene': 'GC02M064016', 'score': 0.21}]
chr2 GH02I064049 64049601 64050201 1.08 [{'connected_gene': 'VPS54', 'score': 0.29}, {'connected_gene': 'ENSG00000228079', 'score': 0.28}, {'connected_gene': 'GC02M063958', 'score': 0.18}]
chr2 GH02I064021 64021727 64021876 0.74 [{'connected_gene': 'VPS54', 'score': 0.77}, {'connected_gene': 'ENSG00000228079', 'score': 0.2}, {'connected_gene': 'GC02M063958', 'score': 0.14}]
chr2 GH02I063994 63994447 63994450 0.31 [{'connected_gene': 'VPS54', 'score': 0.34}, {'connected_gene': 'PIR48907', 'score': 0.34}, {'connected_gene': 'GC02M064016', 'score': 0.34}, {'connected_gene': 'GC02M063913', 'score': 0.22}, {'connected_gene': 'GC02M063958', 'score': 0.12}]
chr2 GH02I063983 63983808 63986578 1.14 [{'connected_gene': 'WDPCP', 'score': 15.69}, {'connected_gene': 'VPS54', 'score': 0.29}, {'connected_gene': 'PIR48907', 'score': 0.29}, {'connected_gene': 'GC02M064016', 'score': 0.29}, {'connected_gene': 'GC02M063913', 'score': 0.25}, {'connected_gene': 'GC02M063958', 'score': 0.11}]
chr2 GH02I064051 64051805 64053677 0.66 [{'connected_gene': 'MDH1', 'score': 5.7}, {'connected_gene': 'UGP2', 'score': 4.23}, {'connected_gene': 'VPS54', 'score': 0.29}, {'connected_gene': 'ENSG00000228079', 'score': 0.28}, {'connected_gene': 'GC02M063958', 'score': 0.18}]
chr2 GH02I063977 63977280 63978689 0.6 [{'connected_gene': 'MDH1', 'score': 13.14}, {'connected_gene': 'PIR48907', 'score': 0.28}, {'connected_gene': 'GC02M064016', 'score': 0.28}, {'connected_gene': 'VPS54', 'score': 0.26}, {'connected_gene': 'GC02M063913', 'score': 0.26}, {'connected_gene': 'GC02M063958', 'score': 0.1}]
chr2 GH02I063897 63897696 63899170 0.46 [{'connected_gene': 'MDH1', 'score': 5.04}, {'connected_gene': 'GC02P063893', 'score': 0.44}, {'connected_gene': 'GC02M063913', 'score': 0.28}, {'connected_gene': 'VPS54', 'score': 0.13}]
chr2 GH02I063587 63587297 63592551 2.12 [{'connected_gene': 'MDH1', 'score': 595.82}, {'connected_gene': 'WDPCP', 'score': 556.4}, {'connected_gene': 'VPS54', 'score': 36.47}, {'connected_gene': 'AFTPH', 'score': 11.56}, {'connected_gene': 'PIR47439', 'score': 0.29}]
chr2 GH02I064766 64766149 64771596 1.78 [{'connected_gene': 'LOC105374777', 'score': 550.77}, {'connected_gene': 'VPS54', 'score': 18.41}, {'connected_gene': 'LINC02576', 'score': 9.15}, {'connected_gene': 'SERTAD2', 'score': 5.52}, {'connected_gene': 'SLC1A4', 'score': 3.39}, {'connected_gene': 'AFTPH', 'score': 2.09}, {'connected_gene': 'RAB1A', 'score': 1.98}, {'connected_gene': 'ACTR2', 'score': 1.5}, {'connected_gene': 'GC02P064779', 'score': 0.39}]
chr2 GH02I064857 64857513 64866256 2.05 [{'connected_gene': 'LINC01800', 'score': 550.77}, {'connected_gene': 'VPS54', 'score': 26.54}, {'connected_gene': 'SERTAD2', 'score': 22.73}, {'connected_gene': 'ACTR2', 'score': 6.68}, {'connected_gene': 'AFTPH', 'score': 4.09}, {'connected_gene': 'RAB1A', 'score': 2.44}, {'connected_gene': 'SLC1A4', 'score': 2.11}, {'connected_gene': 'GC02P064841', 'score': 0.34}]
chr2 GH02I064140 64140776 64147204 2.24 [{'connected_gene': 'LOC100507006', 'score': 556.24}, {'connected_gene': 'PELI1', 'score': 550.77}, {'connected_gene': 'VPS54', 'score': 16.45}, {'connected_gene': 'MDH1', 'score': 8.11}, {'connected_gene': 'UGP2', 'score': 4.77}, {'connected_gene': 'WDPCP', 'score': 4.58}]
chr2 GH02I064200 64200508 64205686 1.2 [{'connected_gene': 'LOC100507006', 'score': 11.32}, {'connected_gene': 'PELI1', 'score': 11.32}, {'connected_gene': 'LOC105374771', 'score': 10.03}, {'connected_gene': 'LGALSL', 'score': 10.03}, {'connected_gene': 'ENSG00000237217', 'score': 10.03}, {'connected_gene': 'VPS54', 'score': 6.6}, {'connected_gene': 'LINC00309', 'score': 0.77}, {'connected_gene': 'GC02P064150', 'score': 0.23}]
chr2 GH02I064023 64023632 64025321 0.88 [{'connected_gene': 'LOC100507006', 'score': 4.23}, {'connected_gene': 'VPS54', 'score': 0.44}, {'connected_gene': 'ENSG00000228079', 'score': 0.21}, {'connected_gene': 'GC02M063958', 'score': 0.14}]
chr2 GH02I064076 64076098 64077553 0.2 [{'connected_gene': 'LOC100507006', 'score': 7.71}, {'connected_gene': 'ENSG00000228079', 'score': 0.39}, {'connected_gene': 'GC02M063958', 'score': 0.23}, {'connected_gene': 'VPS54', 'score': 0.22}]
chr2 GH02I064062 64062793 64066162 1.32 [{'connected_gene': 'LOC100507006', 'score': 15.71}, {'connected_gene': 'MDH1', 'score': 12.89}, {'connected_gene': 'PELI1', 'score': 11.1}, {'connected_gene': 'WDPCP', 'score': 4.24}, {'connected_gene': 'ENSG00000228079', 'score': 0.34}, {'connected_gene': 'VPS54', 'score': 0.25}, {'connected_gene': 'GC02M063958', 'score': 0.2}]
chr2 GH02I063048 63047957 63051658 2.41 [{'connected_gene': 'LOC100132215', 'score': 550.77}, {'connected_gene': 'OTX1', 'score': 550.77}, {'connected_gene': 'VPS54', 'score': 18.41}, {'connected_gene': 'WDPCP', 'score': 5.68}]
chr2 GH02I064014 64014601 64016400 0.57 [{'connected_gene': 'PIR48907', 'score': 550.77}, {'connected_gene': 'GC02M064016', 'score': 550.77}, {'connected_gene': 'VPS54', 'score': 0.77}, {'connected_gene': 'GC02M063913', 'score': 0.18}, {'connected_gene': 'GC02M063958', 'score': 0.13}]
chr2 GH02I064036 64036001 64036890 0.79 [{'connected_gene': 'ENSG00000251775', 'score': 5.48}, {'connected_gene': 'VPS54', 'score': 0.37}, {'connected_gene': 'ENSG00000228079', 'score': 0.23}, {'connected_gene': 'GC02M063958', 'score': 0.16}]
chr2 GH02I063948 63948407 63948437 0.22 [{'connected_gene': 'GC02M063913', 'score': 0.39}, {'connected_gene': 'PIR48907', 'score': 0.2}, {'connected_gene': 'GC02M064016', 'score': 0.2}, {'connected_gene': 'VPS54', 'score': 0.19}]
chr2 GH02I064056 64056187 64056336 0.2 [{'connected_gene': 'ENSG00000228079', 'score': 0.29}, {'connected_gene': 'VPS54', 'score': 0.28}, {'connected_gene': 'GC02M063958', 'score': 0.19}]
chr2 GH02I064055 64055401 64055900 0.38 [{'connected_gene': 'ENSG00000228079', 'score': 0.29}, {'connected_gene': 'VPS54', 'score': 0.28}, {'connected_gene': 'GC02M063958', 'score': 0.19}]
chr2 GH02I064016 64016601 64017000 0.2 [{'connected_gene': 'PIR48907', 'score': 550.77}, {'connected_gene': 'GC02M064016', 'score': 550.77}, {'connected_gene': 'VPS54', 'score': 0.77}, {'connected_gene': 'GC02M063958', 'score': 0.14}]
chr2 GH02I063926 63926947 63927096 0.31 [{'connected_gene': 'GC02M063913', 'score': 0.44}, {'connected_gene': 'GC02P063893', 'score': 0.29}, {'connected_gene': 'VPS54', 'score': 0.16}]
chr2 GH02I064835 64835201 64835600 0.69 [{'connected_gene': 'ENSG00000199964', 'score': 550.77}, {'connected_gene': 'GC02M064835', 'score': 550.77}, {'connected_gene': 'LINC01800', 'score': 20.31}, {'connected_gene': 'VPS54', 'score': 14.62}, {'connected_gene': 'AFTPH', 'score': 10.46}, {'connected_gene': 'SERTAD2', 'score': 10.37}, {'connected_gene': 'GC02P064841', 'score': 0.44}]
chr2 GH02I063992 63992847 63994184 0.83 [{'connected_gene': 'ENSG00000251775', 'score': 6.59}, {'connected_gene': 'LOC100507006', 'score': 4.85}, {'connected_gene': 'PIR48907', 'score': 0.34}, {'connected_gene': 'GC02M064016', 'score': 0.34}, {'connected_gene': 'VPS54', 'score': 0.31}, {'connected_gene': 'GC02M063913', 'score': 0.22}, {'connected_gene': 'GC02M063958', 'score': 0.12}]

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