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
ENST00000314100 [[38136226, 38142958], [38160294, 38160373], [38224184, 38224292], [38256047, 38256237], [38312759, 38312869], [38545375, 38545495], [38547993, 38548213], [38560351, 38560616], [38561739, 38562103], [38563545, 38563843]] [[38142760, 38142958], [38160294, 38160373], [38224184, 38224292], [38256047, 38256237], [38312759, 38312869], [38545375, 38545495], [38547993, 38548213], [38560351, 38560616], [38561739, 38562084]]
ENST00000481247 [[38136226, 38142958], [38160294, 38160373], [38224184, 38224292], [38256047, 38256237], [38312759, 38312869], [38545375, 38545495], [38547993, 38548213], [38560351, 38560616], [38561739, 38562103], [38565685, 38565897], [38607575, 38607700]] [[38142760, 38142958], [38160294, 38160373], [38224184, 38224292], [38256047, 38256237], [38312759, 38312869], [38545375, 38545495], [38547993, 38548213], [38560351, 38560616], [38561739, 38562103], [38565685, 38565870]]
ENST00000328403 [[38142734, 38142958], [38160294, 38160373], [38224184, 38224292], [38256047, 38256237], [38312759, 38312869], [38472269, 38472338], [38545375, 38545495], [38547993, 38548213], [38560351, 38560616], [38561739, 38562103], [38563545, 38563764]] [[38472331, 38472338], [38545375, 38545495], [38547993, 38548213], [38560351, 38560616], [38561739, 38562084]]
ENST00000419706 [[38142734, 38142958], [38160294, 38160373], [38224184, 38224292], [38256047, 38256237], [38312759, 38312869], [38370592, 38370679], [38545375, 38545495], [38547993, 38548213], [38560351, 38560616], [38561739, 38562151], [38563545, 38563764]] [[38142760, 38142958], [38160294, 38160373], [38224184, 38224292], [38256047, 38256237], [38312759, 38312869], [38370592, 38370679], [38545375, 38545495], [38547993, 38548213], [38560351, 38560616], [38561739, 38562111]]
ENST00000408958 [[38142760, 38142958], [38160294, 38160373], [38224184, 38224292], [38256047, 38256237], [38312759, 38312869], [38545375, 38545495], [38547993, 38548213], [38560351, 38560616], [38561739, 38562084]] [[38142760, 38142958], [38160294, 38160373], [38224184, 38224292], [38256047, 38256237], [38312759, 38312869], [38545375, 38545495], [38547993, 38548213], [38560351, 38560616], [38561739, 38562084]]
ENST00000403056 [[38142760, 38142958], [38160294, 38160373], [38224184, 38224292], [38256047, 38256237], [38312759, 38312869], [38545375, 38545495], [38547993, 38548213], [38560351, 38560616], [38561739, 38562103], [38565685, 38565870]] [[38142760, 38142958], [38160294, 38160373], [38224184, 38224292], [38256047, 38256237], [38312759, 38312869], [38545375, 38545495], [38547993, 38548213], [38560351, 38560616], [38561739, 38562103], [38565685, 38565870]]
ENST00000497373 [[38561739, 38562103], [38565685, 38565833], [38607575, 38607924]] [[38561739, 38562084]]
ENST00000498633 [[38562011, 38562103], [38565685, 38565897], [38580609, 38580809], [38607575, 38607644]] [[38562011, 38562103], [38565685, 38565870]]
NM_001172418 [[38136226, 38142958], [38160294, 38160373], [38224184, 38224292], [38256047, 38256237], [38312759, 38312869], [38370592, 38370679], [38545375, 38545495], [38547993, 38548213], [38560351, 38560616], [38561739, 38562151], [38563545, 38563843]] [[38142760, 38142958], [38160294, 38160373], [38224184, 38224292], [38256047, 38256237], [38312759, 38312869], [38370592, 38370679], [38545375, 38545495], [38547993, 38548213], [38560351, 38560616], [38561739, 38562111]]
NM_152733 [[38136226, 38142958], [38160294, 38160373], [38224184, 38224292], [38256047, 38256237], [38312759, 38312869], [38545375, 38545495], [38547993, 38548213], [38560351, 38560616], [38561739, 38562103], [38563545, 38563843]] [[38142760, 38142958], [38160294, 38160373], [38224184, 38224292], [38256047, 38256237], [38312759, 38312869], [38545375, 38545495], [38547993, 38548213], [38560351, 38560616], [38561739, 38562084]]
NM_052893 [[38136226, 38142958], [38160294, 38160373], [38224184, 38224292], [38256047, 38256237], [38312759, 38312869], [38545375, 38545495], [38547993, 38548213], [38560351, 38560616], [38561739, 38562103], [38565685, 38565897], [38580609, 38580809], [38607575, 38607924]] [[38142760, 38142958], [38160294, 38160373], [38224184, 38224292], [38256047, 38256237], [38312759, 38312869], [38545375, 38545495], [38547993, 38548213], [38560351, 38560616], [38561739, 38562103], [38565685, 38565870]]
NM_001099272 [[38136226, 38142958], [38160294, 38160373], [38224184, 38224292], [38256047, 38256237], [38312759, 38312869], [38545375, 38545495], [38547993, 38548213], [38560351, 38560616], [38561739, 38562103], [38565685, 38565897], [38607575, 38607924]] [[38142760, 38142958], [38160294, 38160373], [38224184, 38224292], [38256047, 38256237], [38312759, 38312869], [38545375, 38545495], [38547993, 38548213], [38560351, 38560616], [38561739, 38562103], [38565685, 38565870]]
Promoter
Chrom Start End Description
chr6 38607586 38607597 CAGE_peak_7_at_BTBD9_5end
chr6 38607598 38607626 CAGE_peak_2_at_BTBD9_5end
chr6 38607628 38607651 CAGE_peak_3_at_BTBD9_5end
chr6 38607673 38607749 CAGE_peak_1_at_BTBD9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I037867 37866001 37866200 0.2 [{'connected_gene': 'ZFAND3', 'score': 11.73}, {'connected_gene': 'ENSG00000225945', 'score': 11.73}, {'connected_gene': 'MDGA1', 'score': 10.09}, {'connected_gene': 'BTBD9', 'score': 4.61}, {'connected_gene': 'RN7SL285P', 'score': 0.29}, {'connected_gene': 'GC06P042398', 'score': 0.28}]
chr6 GH06I037817 37817999 37824647 2.33 [{'connected_gene': 'ZFAND3', 'score': 550.77}, {'connected_gene': 'RNU1-87P', 'score': 11.25}, {'connected_gene': 'CMTR1', 'score': 10.21}, {'connected_gene': 'BTBD9', 'score': 6.75}, {'connected_gene': 'ENSG00000225945', 'score': 0.77}, {'connected_gene': 'RN7SL285P', 'score': 0.39}]
chr6 GH06I037866 37866802 37869694 0.76 [{'connected_gene': 'ZFAND3', 'score': 11.71}, {'connected_gene': 'ENSG00000225945', 'score': 11.71}, {'connected_gene': 'RNU1-87P', 'score': 11.04}, {'connected_gene': 'BTBD9', 'score': 4.76}, {'connected_gene': 'RN7SL285P', 'score': 0.28}, {'connected_gene': 'GC06P042398', 'score': 0.28}]
chr6 GH06I038508 38508601 38510510 0.89 [{'connected_gene': 'SAYSD1', 'score': 13.81}, {'connected_gene': 'ANKRD18EP', 'score': 9.66}, {'connected_gene': 'GLO1', 'score': 6.15}, {'connected_gene': 'PIR44974', 'score': 0.34}, {'connected_gene': 'BTBD9-AS1', 'score': 0.29}, {'connected_gene': 'BTBD9', 'score': 0.12}]
chr6 GH06I038875 38875918 38877350 0.42 [{'connected_gene': 'GLO1', 'score': 6.8}, {'connected_gene': 'BTBD9', 'score': 2.28}, {'connected_gene': 'GC06M038822', 'score': 0.23}, {'connected_gene': 'ENSG00000220076', 'score': 0.23}, {'connected_gene': 'DNAH8', 'score': 0.1}]
chr6 GH06I038673 38673353 38674252 0.69 [{'connected_gene': 'GLO1', 'score': 21.12}, {'connected_gene': 'BTBD9', 'score': 15.99}, {'connected_gene': 'GC06P042389', 'score': 0.44}]
chr6 GH06I038676 38676965 38677114 0.38 [{'connected_gene': 'GLO1', 'score': 12.29}, {'connected_gene': 'BTBD9', 'score': 10.71}, {'connected_gene': 'GC06P042389', 'score': 0.44}]
chr6 GH06I038701 38701801 38703814 2.07 [{'connected_gene': 'GLO1', 'score': 569.64}, {'connected_gene': 'ANKRD18EP', 'score': 66.67}, {'connected_gene': 'SAYSD1', 'score': 13.14}, {'connected_gene': 'BTBD9', 'score': 5.54}, {'connected_gene': 'GC06P042389', 'score': 0.29}]
chr6 GH06I038305 38305706 38308444 0.73 [{'connected_gene': 'CMTR1', 'score': 12.2}, {'connected_gene': 'ANKRD18EP', 'score': 10.29}, {'connected_gene': 'BTBD9-AS1', 'score': 9.5}, {'connected_gene': 'BTBD9', 'score': 4.59}, {'connected_gene': 'GC06M038473', 'score': 0.31}]
chr6 GH06I038065 38065363 38065619 0.25 [{'connected_gene': 'BTBD9', 'score': 4.55}, {'connected_gene': 'ZFAND3', 'score': 1.99}, {'connected_gene': 'ENSG00000218521', 'score': 0.21}, {'connected_gene': 'PIR60907', 'score': 0.17}]
chr6 GH06I038131 38131298 38132434 0.49 [{'connected_gene': 'BTBD9', 'score': 4.19}, {'connected_gene': 'PIR60907', 'score': 0.34}, {'connected_gene': 'ENSG00000218521', 'score': 0.13}, {'connected_gene': 'ZFAND3', 'score': 0.06}]
chr6 GH06I038138 38138465 38138634 0.43 [{'connected_gene': 'BTBD9', 'score': 4.18}, {'connected_gene': 'PIR60907', 'score': 0.39}, {'connected_gene': 'ENSG00000218521', 'score': 0.12}, {'connected_gene': 'ZFAND3', 'score': 0.06}]
chr6 GH06I038571 38571163 38573278 0.72 [{'connected_gene': 'BTBD9', 'score': 17.1}, {'connected_gene': 'GLO1', 'score': 9.01}, {'connected_gene': 'ENSG00000199938', 'score': 0.44}, {'connected_gene': 'LOC100128379', 'score': 0.37}]
chr6 GH06I038672 38672025 38672154 0.65 [{'connected_gene': 'BTBD9', 'score': 11.58}, {'connected_gene': 'GLO1', 'score': 11.21}, {'connected_gene': 'GC06P042389', 'score': 0.77}]
chr6 GH06I038479 38479490 38479627 0.22 [{'connected_gene': 'BTBD9', 'score': 2.05}, {'connected_gene': 'DNAH8', 'score': 1.65}, {'connected_gene': 'BTBD9-AS1', 'score': 0.77}, {'connected_gene': 'PIR44974', 'score': 0.23}]
chr6 GH06I037919 37919085 37920156 0.72 [{'connected_gene': 'BTBD9', 'score': 4.57}, {'connected_gene': 'RNU1-87P', 'score': 0.77}, {'connected_gene': 'ENSG00000218521', 'score': 0.18}, {'connected_gene': 'ZFAND3', 'score': 0.15}]
chr6 GH06I037916 37916743 37918984 0.38 [{'connected_gene': 'BTBD9', 'score': 4.33}, {'connected_gene': 'RNU1-87P', 'score': 0.77}, {'connected_gene': 'ENSG00000218521', 'score': 0.17}, {'connected_gene': 'ZFAND3', 'score': 0.15}]
chr6 GH06I037844 37844001 37844200 0.31 [{'connected_gene': 'BTBD9', 'score': 4.79}, {'connected_gene': 'RN7SL285P', 'score': 0.39}, {'connected_gene': 'ZFAND3', 'score': 0.34}, {'connected_gene': 'GC06P042398', 'score': 0.21}]
chr6 GH06I038217 38217475 38217849 0.39 [{'connected_gene': 'BTBD9', 'score': 1.44}, {'connected_gene': 'GC06P041387', 'score': 0.44}, {'connected_gene': 'LOC105375045', 'score': 0.31}, {'connected_gene': 'GC06M038473', 'score': 0.21}]
chr6 GH06I038638 38638232 38641073 2 [{'connected_gene': 'BTBD9', 'score': 557.06}, {'connected_gene': 'LOC105375044', 'score': 550.77}, {'connected_gene': 'GC06P041629', 'score': 550.77}, {'connected_gene': 'GLO1', 'score': 9.25}, {'connected_gene': 'GC06M038613', 'score': 0.77}, {'connected_gene': 'PIR46862', 'score': 0.37}]
chr6 GH06I038688 38688524 38689327 0.59 [{'connected_gene': 'BTBD9', 'score': 10.64}, {'connected_gene': 'BTBD9-AS1', 'score': 9.33}, {'connected_gene': 'GLO1', 'score': 7.4}, {'connected_gene': 'GC06P042389', 'score': 0.34}]
chr6 GH06I038349 38349630 38351444 0.58 [{'connected_gene': 'BTBD9', 'score': 5.45}, {'connected_gene': 'GC06M038473', 'score': 0.2}, {'connected_gene': 'BTBD9-AS1', 'score': 0.13}]
chr6 GH06I038432 38432356 38432529 0.39 [{'connected_gene': 'BTBD9', 'score': 1.57}, {'connected_gene': 'BTBD9-AS1', 'score': 0.26}, {'connected_gene': 'GC06M038473', 'score': 0.1}]
chr6 GH06I038482 38482817 38483046 0.45 [{'connected_gene': 'BTBD9', 'score': 4.95}, {'connected_gene': 'BTBD9-AS1', 'score': 0.44}, {'connected_gene': 'PIR44974', 'score': 0.25}]
chr6 GH06I038297 38297564 38297772 0.22 [{'connected_gene': 'BTBD9', 'score': 1.55}, {'connected_gene': 'GC06M038473', 'score': 0.37}, {'connected_gene': 'BTBD9-AS1', 'score': 0.1}]
chr6 GH06I038611 38611856 38613124 0.31 [{'connected_gene': 'BTBD9', 'score': 17.65}, {'connected_gene': 'PIR46862', 'score': 0.39}, {'connected_gene': 'GC06P042400', 'score': 0.31}]
chr6 GH06I038596 38596028 38596087 0.5 [{'connected_gene': 'BTBD9', 'score': 560.92}, {'connected_gene': 'GC06P042400', 'score': 0.44}, {'connected_gene': 'PIR46862', 'score': 0.31}]
chr6 GH06I037881 37881850 37883517 0.93 [{'connected_gene': 'RNU1-87P', 'score': 12.06}, {'connected_gene': 'ZFAND3', 'score': 11.56}, {'connected_gene': 'ENSG00000225945', 'score': 11.56}, {'connected_gene': 'MDGA1', 'score': 10.22}, {'connected_gene': 'BTBD9', 'score': 4.82}, {'connected_gene': 'GC06P042398', 'score': 0.34}, {'connected_gene': 'RN7SL285P', 'score': 0.25}]
chr6 GH06I037938 37938326 37939571 0.2 [{'connected_gene': 'RNU1-87P', 'score': 11.36}, {'connected_gene': 'BTBD9', 'score': 4.03}, {'connected_gene': 'ENSG00000218521', 'score': 0.21}, {'connected_gene': 'ZFAND3', 'score': 0.13}]
chr6 GH06I038212 38212276 38213612 1.05 [{'connected_gene': 'BTBD9-AS1', 'score': 9.82}, {'connected_gene': 'SAYSD1', 'score': 5.03}, {'connected_gene': 'GC06P041387', 'score': 0.77}, {'connected_gene': 'LOC105375045', 'score': 0.31}, {'connected_gene': 'GC06M038473', 'score': 0.2}, {'connected_gene': 'BTBD9', 'score': 0.04}]
chr6 GH06I038390 38390914 38392308 0.8 [{'connected_gene': 'BTBD9-AS1', 'score': 9.06}, {'connected_gene': 'GC06M038473', 'score': 0.14}, {'connected_gene': 'BTBD9', 'score': 0.07}]
chr6 GH06I038477 38477965 38478114 0.52 [{'connected_gene': 'BTBD9-AS1', 'score': 0.77}, {'connected_gene': 'PIR44974', 'score': 0.23}, {'connected_gene': 'BTBD9', 'score': 0.1}]
chr6 GH06I038443 38443295 38444135 0.63 [{'connected_gene': 'BTBD9-AS1', 'score': 10.76}, {'connected_gene': 'GC06M038473', 'score': 0.1}, {'connected_gene': 'BTBD9', 'score': 0.08}]
chr6 GH06I038502 38502549 38502674 0.78 [{'connected_gene': 'BTBD9-AS1', 'score': 10.77}, {'connected_gene': 'PIR44974', 'score': 0.31}, {'connected_gene': 'BTBD9', 'score': 0.12}]
chr6 GH06I038387 38387727 38388600 0.49 [{'connected_gene': 'BTBD9-AS1', 'score': 0.17}, {'connected_gene': 'GC06M038473', 'score': 0.14}, {'connected_gene': 'BTBD9', 'score': 0.07}]
chr6 GH06I038494 38494065 38494214 0.69 [{'connected_gene': 'BTBD9-AS1', 'score': 0.37}, {'connected_gene': 'PIR44974', 'score': 0.28}, {'connected_gene': 'BTBD9', 'score': 0.11}]
chr6 GH06I038404 38404487 38405634 0.8 [{'connected_gene': 'BTBD9-AS1', 'score': 10.31}, {'connected_gene': 'BTBD9', 'score': 4.53}, {'connected_gene': 'GC06M038473', 'score': 0.13}]
chr6 GH06I038337 38337570 38338899 0.57 [{'connected_gene': 'BTBD9-AS1', 'score': 8.97}, {'connected_gene': 'GC06M038473', 'score': 0.22}, {'connected_gene': 'BTBD9', 'score': 0.06}]
chr6 GH06I038427 38427671 38428591 0.59 [{'connected_gene': 'BTBD9-AS1', 'score': 9.8}, {'connected_gene': 'GC06M038473', 'score': 0.11}, {'connected_gene': 'BTBD9', 'score': 0.08}]
chr6 GH06I038503 38502789 38503940 0.76 [{'connected_gene': 'ANKRD18EP', 'score': 14.77}, {'connected_gene': 'BTBD9-AS1', 'score': 11.76}, {'connected_gene': 'PIR44974', 'score': 0.31}, {'connected_gene': 'BTBD9', 'score': 0.12}]
chr6 GH06I038578 38578532 38578894 0.66 [{'connected_gene': 'LOC100128379', 'score': 0.44}, {'connected_gene': 'ENSG00000199938', 'score': 0.39}, {'connected_gene': 'BTBD9', 'score': 0.21}]
chr6 GH06I038153 38153768 38156718 1.2 [{'connected_gene': 'PIR62382', 'score': 550.77}, {'connected_gene': 'GC06M038403', 'score': 550.77}, {'connected_gene': 'GC06M038318', 'score': 550.77}, {'connected_gene': 'ZFAND3', 'score': 2.52}, {'connected_gene': 'BTBD9', 'score': 2.01}, {'connected_gene': 'PIR43435', 'score': 0.77}]
chr6 GH06I038209 38209334 38209733 0.34 [{'connected_gene': 'GC06P041387', 'score': 550.77}, {'connected_gene': 'ENSG00000200706', 'score': 0.77}, {'connected_gene': 'GC06M038473', 'score': 0.19}, {'connected_gene': 'BTBD9', 'score': 0.04}]
chr6 GH06I038273 38272911 38274043 0.2 [{'connected_gene': 'GC06M038473', 'score': 0.44}, {'connected_gene': 'GC06P042407', 'score': 0.39}, {'connected_gene': 'BTBD9', 'score': 0.05}]
chr6 GH06I038259 38259240 38265252 0.96 [{'connected_gene': 'GC06P042407', 'score': 550.77}, {'connected_gene': 'GC06M038473', 'score': 0.37}, {'connected_gene': 'BTBD9', 'score': 0.05}]
chr6 GH06I038272 38272365 38272514 0.2 [{'connected_gene': 'GC06M038473', 'score': 0.44}, {'connected_gene': 'GC06P042407', 'score': 0.39}, {'connected_gene': 'BTBD9', 'score': 0.05}]
chr6 GH06I038521 38521878 38523267 0.2 [{'connected_gene': 'PIR44974', 'score': 0.44}, {'connected_gene': 'BTBD9-AS1', 'score': 0.25}, {'connected_gene': 'BTBD9', 'score': 0.13}]
chr6 GH06I038357 38357583 38358768 0.7 [{'connected_gene': 'GC06M038473', 'score': 0.18}, {'connected_gene': 'BTBD9-AS1', 'score': 0.13}, {'connected_gene': 'BTBD9', 'score': 0.06}]
chr6 GH06I038283 38283845 38283994 0.43 [{'connected_gene': 'GC06M038473', 'score': 0.77}, {'connected_gene': 'BTBD9-AS1', 'score': 0.08}, {'connected_gene': 'BTBD9', 'score': 0.05}]
chr6 GH06I038346 38346314 38347743 0.43 [{'connected_gene': 'GC06M038473', 'score': 0.2}, {'connected_gene': 'BTBD9-AS1', 'score': 0.13}, {'connected_gene': 'BTBD9', 'score': 0.06}]

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