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
ENST00000585057 [[127783620, 127784063], [127787478, 127787756], [127801325, 127801417], [127806548, 127806651], [127816142, 127816339]] [[127787752, 127787756], [127801325, 127801417], [127806548, 127806651], [127816142, 127816339]]
ENST00000472125 [[127783624, 127784063], [127816142, 127816341], [127817724, 127817788], [127819437, 127819587], [127820401, 127820462]] [[127783870, 127784063], [127816142, 127816341], [127817724, 127817788], [127819437, 127819587], [127820401, 127820462]]
ENST00000464873 [[127783627, 127784063], [127806548, 127806651], [127816142, 127816341], [127817724, 127817788], [127819437, 127819587], [127820401, 127820491], [127823615, 127823767], [127831730, 127831863], [127838170, 127838257], [127872045, 127872757]] [[127784054, 127784063], [127806548, 127806651], [127816142, 127816341], [127817724, 127817788], [127819437, 127819587], [127820401, 127820491], [127823615, 127823767], [127831730, 127831863], [127838170, 127838218]]
ENST00000322623 [[127799802, 127800252], [127801325, 127801417], [127806548, 127806651], [127816142, 127816341], [127817724, 127817788], [127819437, 127819587], [127820401, 127820491], [127823615, 127823767], [127831730, 127831863], [127838170, 127838257], [127842426, 127842667]] [[127800092, 127800252], [127801325, 127801417], [127806548, 127806651], [127816142, 127816341], [127817724, 127817788], [127819437, 127819587], [127820401, 127820491], [127823615, 127823767], [127831730, 127831863], [127838170, 127838257], [127842426, 127842567]]
ENST00000582176 [[127799803, 127803865]] None
ENST00000417360 [[127799806, 127800252], [127806548, 127806651], [127816142, 127816341], [127817724, 127817788], [127819437, 127819587], [127820401, 127820491], [127823615, 127823767], [127831730, 127831863], [127838170, 127838257], [127842426, 127842643]] [[127800210, 127800252], [127806548, 127806651], [127816142, 127816341], [127817724, 127817788], [127819437, 127819587], [127820401, 127820491], [127823615, 127823767], [127831730, 127831863], [127838170, 127838257], [127842426, 127842567]]
ENST00000478892 [[127800024, 127800252], [127801325, 127801417], [127806548, 127806687], [127816142, 127816341], [127817724, 127817788], [127819437, 127819587]] [[127800092, 127800252], [127801325, 127801417], [127806548, 127806687], [127816142, 127816341], [127817724, 127817788], [127819437, 127819587]]
ENST00000480616 [[127802444, 127802918], [127806548, 127806638]] None
ENST00000478243 [[127803685, 127803974], [127806548, 127806654]] None
NM_001319086 [[127783627, 127784063], [127806548, 127806651], [127816142, 127816341], [127817724, 127817788], [127819437, 127819587], [127820401, 127820491], [127823615, 127823767], [127831730, 127831863], [127838170, 127838257], [127872045, 127872757]] [[127784054, 127784063], [127806548, 127806651], [127816142, 127816341], [127817724, 127817788], [127819437, 127819587], [127820401, 127820491], [127823615, 127823767], [127831730, 127831863], [127838170, 127838218]]
NM_001319084 [[127799669, 127800252], [127806548, 127806651], [127816142, 127816341], [127817724, 127817788], [127819437, 127819587], [127820401, 127820491], [127823615, 127823767], [127831730, 127831863], [127838170, 127838257], [127842426, 127842730]] [[127800210, 127800252], [127806548, 127806651], [127816142, 127816341], [127817724, 127817788], [127819437, 127819587], [127820401, 127820491], [127823615, 127823767], [127831730, 127831863], [127838170, 127838257], [127842426, 127842567]]
NM_003707 [[127799799, 127800252], [127801325, 127801417], [127806548, 127806651], [127816142, 127816341], [127817724, 127817788], [127819437, 127819587], [127820401, 127820491], [127823615, 127823767], [127831730, 127831863], [127838170, 127838257], [127842426, 127842671]] [[127800092, 127800252], [127801325, 127801417], [127806548, 127806651], [127816142, 127816341], [127817724, 127817788], [127819437, 127819587], [127820401, 127820491], [127823615, 127823767], [127831730, 127831863], [127838170, 127838257], [127842426, 127842567]]
Promoter
Chrom Start End Description
chr3 127842612 127842680 CAGE_peak_1_at_RUVBL1_5end
chr3 127872625 127872632 CAGE_peak_3_at_RUVBL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I128242 128242816 128243599 0.57 [{'connected_gene': 'RUVBL1', 'score': 14.14}, {'connected_gene': 'RAB7A', 'score': 5.03}, {'connected_gene': 'MGLL', 'score': 2.23}, {'connected_gene': 'DNAJB8', 'score': 1.26}, {'connected_gene': 'GC03P128260', 'score': 0.37}, {'connected_gene': 'GC03P128188', 'score': 0.22}, {'connected_gene': 'EEFSEC', 'score': 0.17}]
chr3 GH03I128151 128151274 128154601 2.27 [{'connected_gene': 'RUVBL1', 'score': 564.53}, {'connected_gene': 'EEFSEC', 'score': 557.39}, {'connected_gene': 'GC03M128142', 'score': 0.39}, {'connected_gene': 'RNU6-823P', 'score': 0.39}]
chr3 GH03I128122 128122185 128124963 2.07 [{'connected_gene': 'RUVBL1', 'score': 572.73}, {'connected_gene': 'EEFSEC', 'score': 13.24}, {'connected_gene': 'RUVBL1-AS1', 'score': 11.44}, {'connected_gene': 'RNU2-37P', 'score': 11.44}, {'connected_gene': 'MCM2', 'score': 9.93}, {'connected_gene': 'PIR39032', 'score': 0.37}]
chr3 GH03I128296 128296218 128296929 0.31 [{'connected_gene': 'RUVBL1', 'score': 13.13}, {'connected_gene': 'EEFSEC', 'score': 5.41}, {'connected_gene': 'GC03M128273', 'score': 0.34}, {'connected_gene': 'GC03P128380', 'score': 0.18}]
chr3 GH03I128294 128294758 128295344 0.2 [{'connected_gene': 'RUVBL1', 'score': 13.45}, {'connected_gene': 'GC03M128273', 'score': 0.37}, {'connected_gene': 'GC03P128380', 'score': 0.18}, {'connected_gene': 'EEFSEC', 'score': 0.11}]
chr3 GH03I128326 128326213 128327965 0.2 [{'connected_gene': 'RUVBL1', 'score': 6.88}, {'connected_gene': 'GC03P128380', 'score': 0.23}, {'connected_gene': 'GC03M128273', 'score': 0.23}, {'connected_gene': 'EEFSEC', 'score': 0.09}]
chr3 GH03I128342 128342884 128345250 1.3 [{'connected_gene': 'RUVBL1', 'score': 12.8}, {'connected_gene': 'DNAJB8-AS1', 'score': 10.61}, {'connected_gene': 'RNU6-823P', 'score': 10.09}, {'connected_gene': 'GC03P128380', 'score': 0.28}, {'connected_gene': 'GC03M128273', 'score': 0.2}, {'connected_gene': 'EEFSEC', 'score': 0.08}]
chr3 GH03I128337 128337096 128339342 0.74 [{'connected_gene': 'RUVBL1', 'score': 12.86}, {'connected_gene': 'DNAJB8', 'score': 11.12}, {'connected_gene': 'DNAJB8-AS1', 'score': 10.91}, {'connected_gene': 'RNU6-823P', 'score': 10.09}, {'connected_gene': 'GC03P128380', 'score': 0.26}, {'connected_gene': 'GC03M128273', 'score': 0.21}, {'connected_gene': 'EEFSEC', 'score': 0.09}]
chr3 GH03I128098 128098266 128099081 0.67 [{'connected_gene': 'RUVBL1', 'score': 14.66}, {'connected_gene': 'RNU6-823P', 'score': 10.65}, {'connected_gene': 'EEFSEC', 'score': 8.92}, {'connected_gene': 'RUVBL1-AS1', 'score': 0.34}, {'connected_gene': 'PIR39032', 'score': 0.26}]
chr3 GH03I128277 128277987 128281445 1.03 [{'connected_gene': 'RUVBL1', 'score': 14.23}, {'connected_gene': 'RNU6-823P', 'score': 10.22}, {'connected_gene': 'GC03M128273', 'score': 0.77}, {'connected_gene': 'GC03P128380', 'score': 0.15}, {'connected_gene': 'EEFSEC', 'score': 0.13}]
chr3 GH03I128284 128284426 128286414 0.31 [{'connected_gene': 'RUVBL1', 'score': 14.08}, {'connected_gene': 'RNU6-823P', 'score': 10.21}, {'connected_gene': 'GC03M128273', 'score': 0.44}, {'connected_gene': 'GC03P128380', 'score': 0.16}, {'connected_gene': 'EEFSEC', 'score': 0.12}]
chr3 GH03I128237 128237418 128239050 0.49 [{'connected_gene': 'RUVBL1', 'score': 14.16}, {'connected_gene': 'RNU6-823P', 'score': 9.66}, {'connected_gene': 'GC03P128260', 'score': 0.34}, {'connected_gene': 'GC03P128188', 'score': 0.23}, {'connected_gene': 'EEFSEC', 'score': 0.18}]
chr3 GH03I128167 128167321 128168863 1.53 [{'connected_gene': 'RUVBL1', 'score': 13.81}, {'connected_gene': 'RNU6-823P', 'score': 11.05}, {'connected_gene': 'DNAJB8', 'score': 9.43}, {'connected_gene': 'PIR33287', 'score': 0.77}, {'connected_gene': 'EEFSEC', 'score': 0.39}, {'connected_gene': 'GC03P128188', 'score': 0.34}]
chr3 GH03I128324 128324879 128325604 0.66 [{'connected_gene': 'RUVBL1', 'score': 12.85}, {'connected_gene': 'RNU6-823P', 'score': 10.16}, {'connected_gene': 'DNAJB8', 'score': 10.04}, {'connected_gene': 'GC03M128273', 'score': 0.25}, {'connected_gene': 'GC03P128380', 'score': 0.23}, {'connected_gene': 'EEFSEC', 'score': 0.09}]
chr3 GH03I128323 128323149 128324235 0.79 [{'connected_gene': 'RUVBL1', 'score': 12.85}, {'connected_gene': 'RNU6-823P', 'score': 10.16}, {'connected_gene': 'DNAJB8', 'score': 10.04}, {'connected_gene': 'GC03M128273', 'score': 0.25}, {'connected_gene': 'GC03P128380', 'score': 0.22}, {'connected_gene': 'EEFSEC', 'score': 0.09}]
chr3 GH03I128094 128094758 128096419 0.95 [{'connected_gene': 'RUVBL1', 'score': 14.24}, {'connected_gene': 'RNU6-823P', 'score': 11.51}, {'connected_gene': 'RUVBL1-AS1', 'score': 0.37}, {'connected_gene': 'PIR39032', 'score': 0.26}]
chr3 GH03I128111 128111519 128115107 1.2 [{'connected_gene': 'RUVBL1', 'score': 14.7}, {'connected_gene': 'RUVBL1-AS1', 'score': 11.85}, {'connected_gene': 'RNU2-37P', 'score': 11.85}, {'connected_gene': 'RNU6-823P', 'score': 11.7}, {'connected_gene': 'EEFSEC', 'score': 6.92}, {'connected_gene': 'SEC61A1', 'score': 4.44}, {'connected_gene': 'GATA2', 'score': 3.82}, {'connected_gene': 'PIR39032', 'score': 0.31}]
chr3 GH03I128423 128423867 128427132 1.36 [{'connected_gene': 'EEFSEC', 'score': 12.98}, {'connected_gene': 'RUVBL1', 'score': 10.23}, {'connected_gene': 'MCM2', 'score': 9.93}, {'connected_gene': 'GC03M128409', 'score': 0.44}, {'connected_gene': 'GC03P128459', 'score': 0.29}]
chr3 GH03I127629 127629000 127629601 1.91 [{'connected_gene': 'PODXL2', 'score': 550.77}, {'connected_gene': 'EEFSEC', 'score': 12.95}, {'connected_gene': 'RUVBL1', 'score': 10.2}, {'connected_gene': 'MCM2', 'score': 10.2}, {'connected_gene': 'GC03P127673', 'score': 0.26}, {'connected_gene': 'GC03P127674', 'score': 0.26}]
chr3 GH03I128067 128067705 128068186 0.6 [{'connected_gene': 'MCM2', 'score': 9.58}, {'connected_gene': 'TPRA1', 'score': 9.58}, {'connected_gene': 'SEC61A1', 'score': 9.15}, {'connected_gene': 'RNU2-37P', 'score': 0.44}, {'connected_gene': 'GC03M128076', 'score': 0.44}, {'connected_gene': 'LOC102723759', 'score': 0.37}, {'connected_gene': 'RUVBL1', 'score': 0.17}]
chr3 GH03I128086 128086762 128087812 0.2 [{'connected_gene': 'SEC61A1', 'score': 13.3}, {'connected_gene': 'RNU6-823P', 'score': 10.91}, {'connected_gene': 'PODXL2', 'score': 9.43}, {'connected_gene': 'RUVBL1-AS1', 'score': 0.39}, {'connected_gene': 'PIR39032', 'score': 0.23}, {'connected_gene': 'RUVBL1', 'score': 0.2}]
chr3 GH03I128070 128070244 128071671 0.43 [{'connected_gene': 'SEC61A1', 'score': 9.15}, {'connected_gene': 'RNU2-37P', 'score': 0.77}, {'connected_gene': 'GC03M128076', 'score': 0.77}, {'connected_gene': 'LOC102723759', 'score': 0.37}, {'connected_gene': 'RUVBL1', 'score': 0.18}]
chr3 GH03I128084 128084006 128085423 0.83 [{'connected_gene': 'SEC61A1', 'score': 9.52}, {'connected_gene': 'RUVBL1-AS1', 'score': 0.44}, {'connected_gene': 'PIR39032', 'score': 0.22}, {'connected_gene': 'RUVBL1', 'score': 0.2}]
chr3 GH03I128877 128877729 128881374 2.11 [{'connected_gene': 'ACAD9', 'score': 573.47}, {'connected_gene': 'PIR50406', 'score': 550.77}, {'connected_gene': 'ENSG00000244932', 'score': 39.18}, {'connected_gene': 'RPL32P3', 'score': 38.41}, {'connected_gene': 'ISY1', 'score': 29.64}, {'connected_gene': 'H1FX', 'score': 20.52}, {'connected_gene': 'LOC653712', 'score': 17.08}, {'connected_gene': 'H1FX-AS1', 'score': 14.83}, {'connected_gene': 'MBD4', 'score': 14.02}, {'connected_gene': 'RPS15AP16', 'score': 11.61}, {'connected_gene': 'RUVBL1', 'score': 10.98}, {'connected_gene': 'EEFSEC', 'score': 10.83}, {'connected_gene': 'EFCC1', 'score': 10.7}, {'connected_gene': 'COPG1', 'score': 10.29}, {'connected_gene': 'RPN1', 'score': 9.8}, {'connected_gene': 'RAB7A', 'score': 7.74}]
chr3 GH03I128382 128382070 128386048 1.3 [{'connected_gene': 'DNAJB8-AS1', 'score': 11.05}, {'connected_gene': 'RUVBL1', 'score': 5.21}, {'connected_gene': 'GC03P128380', 'score': 0.77}, {'connected_gene': 'GC03M128409', 'score': 0.29}, {'connected_gene': 'EEFSEC', 'score': 0.07}]
chr3 GH03I128386 128386123 128388761 0.31 [{'connected_gene': 'DNAJB8-AS1', 'score': 11.21}, {'connected_gene': 'EEFSEC', 'score': 5.97}, {'connected_gene': 'RUVBL1', 'score': 4.73}, {'connected_gene': 'GC03P128380', 'score': 0.44}, {'connected_gene': 'GC03M128409', 'score': 0.29}]
chr3 GH03I128392 128392215 128393100 0.2 [{'connected_gene': 'DNAJB8-AS1', 'score': 11.22}, {'connected_gene': 'EEFSEC', 'score': 6.14}, {'connected_gene': 'RUVBL1', 'score': 4.72}, {'connected_gene': 'GC03P128380', 'score': 0.39}, {'connected_gene': 'GC03M128409', 'score': 0.31}]
chr3 GH03I128079 128079065 128082560 1.36 [{'connected_gene': 'GATA2', 'score': 22.67}, {'connected_gene': 'TPRA1', 'score': 14.36}, {'connected_gene': 'EFCC1', 'score': 10.6}, {'connected_gene': 'SEC61A1', 'score': 9.53}, {'connected_gene': 'EEFSEC', 'score': 7.24}, {'connected_gene': 'DNAJB8', 'score': 2.52}, {'connected_gene': 'RUVBL1-AS1', 'score': 0.44}, {'connected_gene': 'PIR39032', 'score': 0.22}, {'connected_gene': 'RUVBL1', 'score': 0.19}]
chr3 GH03I128402 128402458 128402587 0.74 [{'connected_gene': 'DNAJB8', 'score': 11.17}, {'connected_gene': 'RUVBL1', 'score': 4.76}, {'connected_gene': 'GC03M128409', 'score': 0.37}, {'connected_gene': 'GC03P128380', 'score': 0.34}, {'connected_gene': 'EEFSEC', 'score': 0.07}]
chr3 GH03I128334 128334824 128336834 1.13 [{'connected_gene': 'DNAJB8', 'score': 11.11}, {'connected_gene': 'DNAJB8-AS1', 'score': 10.91}, {'connected_gene': 'RUVBL1', 'score': 10.57}, {'connected_gene': 'GC03P128380', 'score': 0.26}, {'connected_gene': 'GC03M128273', 'score': 0.22}, {'connected_gene': 'EEFSEC', 'score': 0.09}]
chr3 GH03I128316 128316029 128320303 0.77 [{'connected_gene': 'DNAJB8', 'score': 10.43}, {'connected_gene': 'RNU6-823P', 'score': 10.23}, {'connected_gene': 'RUVBL1', 'score': 6.89}, {'connected_gene': 'EEFSEC', 'score': 6.05}, {'connected_gene': 'GC03M128273', 'score': 0.26}, {'connected_gene': 'GC03P128380', 'score': 0.21}]
chr3 GH03I127813 127813876 127824143 2.66 [{'connected_gene': 'MGLL', 'score': 554.56}, {'connected_gene': 'RUVBL1', 'score': 10.78}, {'connected_gene': 'TPRA1', 'score': 1.46}, {'connected_gene': 'KBTBD12', 'score': 1.45}, {'connected_gene': 'GC03M127760', 'score': 0.37}, {'connected_gene': 'ABTB1', 'score': 0.11}]
chr3 GH03I128087 128086195 128086683 0.2 [{'connected_gene': 'RUVBL1-AS1', 'score': 0.39}, {'connected_gene': 'PIR39032', 'score': 0.23}, {'connected_gene': 'RUVBL1', 'score': 0.2}]
chr3 GH03I128082 128082726 128082832 0.4 [{'connected_gene': 'RUVBL1-AS1', 'score': 0.44}, {'connected_gene': 'PIR39032', 'score': 0.22}, {'connected_gene': 'RUVBL1', 'score': 0.19}]
chr3 GH03I128073 128073520 128074711 0.58 [{'connected_gene': 'RUVBL1-AS1', 'score': 550.77}, {'connected_gene': 'RNU2-37P', 'score': 550.77}, {'connected_gene': 'GC03M128076', 'score': 550.77}, {'connected_gene': 'SEC61A1', 'score': 10.07}, {'connected_gene': 'LOC102723759', 'score': 0.34}, {'connected_gene': 'RUVBL1', 'score': 0.18}]
chr3 GH03I128074 128074944 128078643 1.96 [{'connected_gene': 'RUVBL1-AS1', 'score': 550.77}, {'connected_gene': 'RNU2-37P', 'score': 550.77}, {'connected_gene': 'GC03M128076', 'score': 550.77}, {'connected_gene': 'GATA2', 'score': 15.73}, {'connected_gene': 'SEC61A1', 'score': 9.55}, {'connected_gene': 'RUVBL1', 'score': 4.74}, {'connected_gene': 'DNAJB8', 'score': 2.17}, {'connected_gene': 'PIR39032', 'score': 0.21}]
chr3 GH03I128266 128266308 128271011 0.52 [{'connected_gene': 'GC03P128267', 'score': 550.77}, {'connected_gene': 'RUVBL1', 'score': 14.1}, {'connected_gene': 'RNU6-823P', 'score': 9.81}, {'connected_gene': 'EEFSEC', 'score': 7.18}, {'connected_gene': 'SEC61A1', 'score': 6.72}, {'connected_gene': 'GC03P128276', 'score': 0.44}, {'connected_gene': 'PIR55811', 'score': 0.44}, {'connected_gene': 'GC03P128260', 'score': 0.44}]
chr3 GH03I128273 128273988 128276270 0.66 [{'connected_gene': 'GC03P128276', 'score': 550.77}, {'connected_gene': 'GC03M128273', 'score': 550.77}, {'connected_gene': 'PIR55811', 'score': 550.77}, {'connected_gene': 'RUVBL1', 'score': 14.29}, {'connected_gene': 'RNU6-823P', 'score': 10.22}, {'connected_gene': 'EEFSEC', 'score': 6.78}, {'connected_gene': 'GC03P128267', 'score': 0.44}]
chr3 GH03I128378 128378027 128379928 0.92 [{'connected_gene': 'GC03P128380', 'score': 550.77}, {'connected_gene': 'DNAJB8', 'score': 10.69}, {'connected_gene': 'RUVBL1', 'score': 6.48}, {'connected_gene': 'GC03M128273', 'score': 0.15}, {'connected_gene': 'EEFSEC', 'score': 0.07}]
chr3 GH03I128144 128144872 128145800 0.84 [{'connected_gene': 'GC03M128142', 'score': 0.77}, {'connected_gene': 'RNU6-823P', 'score': 0.77}, {'connected_gene': 'RUVBL1', 'score': 0.44}, {'connected_gene': 'EEFSEC', 'score': 0.44}]
chr3 GH03I128141 128141298 128142766 0.43 [{'connected_gene': 'PIR39032', 'score': 550.77}, {'connected_gene': 'GC03M128142', 'score': 550.77}, {'connected_gene': 'RNU6-823P', 'score': 550.77}, {'connected_gene': 'RUVBL1', 'score': 14.76}, {'connected_gene': 'EEFSEC', 'score': 0.39}]

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