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
ENST00000582161 [[21026676, 21026757], [21029977, 21030304], [21075330, 21075509], [21081545, 21081655], [21086906, 21086976]] [[21030284, 21030304], [21075330, 21075509], [21081545, 21081655], [21086906, 21086976]]
ENST00000395511 [[21029964, 21030304], [21075330, 21075509], [21081545, 21081655], [21086906, 21087123], [21087683, 21087776], [21092023, 21092176], [21094260, 21095343]] [[21030284, 21030304], [21075330, 21075509], [21081545, 21081655], [21086906, 21087123], [21087683, 21087776], [21092023, 21092176], [21094260, 21094466]]
ENST00000579099 [[21030259, 21030304], [21075330, 21075729]] None
ENST00000578426 [[21030267, 21030304], [21075330, 21075509], [21086906, 21087123], [21087683, 21087776], [21092023, 21092176], [21094260, 21094579]] [[21030284, 21030304], [21075330, 21075509], [21086906, 21086980]]
ENST00000581020 [[21030276, 21032186]] None
ENST00000579303 [[21030276, 21030509], [21075334, 21075509], [21081545, 21081655], [21086906, 21087123], [21087683, 21087776], [21092023, 21092176], [21094260, 21094758]] [[21075355, 21075509], [21081545, 21081655], [21086906, 21087123], [21087683, 21087776], [21092023, 21092176], [21094260, 21094466]]
ENST00000577350 [[21069466, 21069784], [21075330, 21075756]] None
ENST00000346603 [[21074986, 21075509], [21081545, 21081655], [21086906, 21087123], [21087683, 21087776], [21092023, 21092176], [21094260, 21094731]] None
ENST00000583388 [[21087046, 21087123], [21087683, 21087776], [21094260, 21094758]] [[21087046, 21087123], [21087683, 21087776], [21094260, 21094466]]
ENST00000581463 [[21087697, 21087776], [21092023, 21092176], [21096081, 21096578]] [[21087697, 21087776], [21092023, 21092176], [21096081, 21096173]]
NM_015510 [[21030240, 21030304], [21075330, 21075509], [21081545, 21081655], [21086906, 21087123], [21087683, 21087776], [21092023, 21092176], [21094260, 21095285]] [[21030284, 21030304], [21075330, 21075509], [21081545, 21081655], [21086906, 21087123], [21087683, 21087776], [21092023, 21092176], [21094260, 21094466]]
NM_001330159 [[21069499, 21069784], [21075330, 21075509], [21081545, 21081655], [21086906, 21087123], [21087683, 21087776], [21092023, 21092176], [21094260, 21095343]] [[21075355, 21075509], [21081545, 21081655], [21086906, 21087123], [21087683, 21087776], [21092023, 21092176], [21094260, 21094466]]
Promoter
Chrom Start End Description
chr17 21030235 21030258 CAGE_peak_2_at_DHRS7B_5end
chr17 21030260 21030286 CAGE_peak_1_at_DHRS7B_5end
chr17 21069469 21069512 CAGE_peak_3_at_DHRS7B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I021245 21245343 21246214 0.63 [{'connected_gene': 'TMEM11', 'score': 13.13}, {'connected_gene': 'ENSG00000235530', 'score': 13.13}, {'connected_gene': 'DHRS7B', 'score': 11.4}, {'connected_gene': 'OLA1P2', 'score': 4.4}, {'connected_gene': 'PIR52097', 'score': 0.77}, {'connected_gene': 'NATD1', 'score': 0.44}]
chr17 GH17I021119 21119401 21120006 0.93 [{'connected_gene': 'TMEM11', 'score': 4.68}, {'connected_gene': 'DHRS7B', 'score': 0.77}, {'connected_gene': 'LINC01563', 'score': 0.26}]
chr17 GH17I021108 21108453 21110329 0.2 [{'connected_gene': 'TMEM11', 'score': 4.54}, {'connected_gene': 'DHRS7B', 'score': 0.39}, {'connected_gene': 'LINC01563', 'score': 0.29}]
chr17 GH17I021208 21208955 21216520 2.45 [{'connected_gene': 'TMEM11', 'score': 561.4}, {'connected_gene': 'ENSG00000235530', 'score': 556.52}, {'connected_gene': 'DHRS7B', 'score': 18.83}, {'connected_gene': 'FAM106B', 'score': 5.45}, {'connected_gene': 'NATD1', 'score': 5.17}, {'connected_gene': 'GC17M021160', 'score': 0.23}]
chr17 GH17I021192 21192328 21193448 0.63 [{'connected_gene': 'TMEM11', 'score': 13.25}, {'connected_gene': 'ENSG00000235530', 'score': 13.25}, {'connected_gene': 'DHRS7B', 'score': 6.59}, {'connected_gene': 'FAM106B', 'score': 5.42}, {'connected_gene': 'USP22', 'score': 3.96}, {'connected_gene': 'GC17M021160', 'score': 0.29}]
chr17 GH17I021193 21193585 21195343 0.86 [{'connected_gene': 'TMEM11', 'score': 13.25}, {'connected_gene': 'DHRS7B', 'score': 5.3}, {'connected_gene': 'FAM106B', 'score': 4.36}, {'connected_gene': 'ENSG00000235530', 'score': 0.37}, {'connected_gene': 'GC17M021160', 'score': 0.29}]
chr17 GH17I021165 21165654 21168938 0.71 [{'connected_gene': 'TMEM11', 'score': 11.78}, {'connected_gene': 'DHRS7B', 'score': 7.89}, {'connected_gene': 'FAM106B', 'score': 4.53}, {'connected_gene': 'GC17M021160', 'score': 0.44}, {'connected_gene': 'ENSG00000235530', 'score': 0.25}]
chr17 GH17I021131 21131227 21131500 0.77 [{'connected_gene': 'TMEM11', 'score': 11.81}, {'connected_gene': 'ENSG00000235530', 'score': 11.81}, {'connected_gene': 'USP22', 'score': 11.1}, {'connected_gene': 'NATD1', 'score': 4.38}, {'connected_gene': 'MAP2K3', 'score': 3.6}, {'connected_gene': 'DHRS7B', 'score': 0.44}, {'connected_gene': 'GC17M021160', 'score': 0.29}]
chr17 GH17I021186 21186104 21187062 0.86 [{'connected_gene': 'TMEM11', 'score': 12.45}, {'connected_gene': 'FAM106B', 'score': 4.33}, {'connected_gene': 'GC17M021160', 'score': 0.34}, {'connected_gene': 'ENSG00000235530', 'score': 0.31}, {'connected_gene': 'DHRS7B', 'score': 0.21}]
chr17 GH17I021190 21190662 21192127 0.2 [{'connected_gene': 'TMEM11', 'score': 13.25}, {'connected_gene': 'ENSG00000235530', 'score': 13.25}, {'connected_gene': 'FAM106B', 'score': 5.42}, {'connected_gene': 'GC17M021160', 'score': 0.31}, {'connected_gene': 'DHRS7B', 'score': 0.2}]
chr17 GH17I021257 21257001 21257400 1.04 [{'connected_gene': 'MAP2K3', 'score': 12.55}, {'connected_gene': 'TMEM11', 'score': 12.33}, {'connected_gene': 'ENSG00000235530', 'score': 12.33}, {'connected_gene': 'DHRS7B', 'score': 11.29}, {'connected_gene': 'NATD1', 'score': 0.77}, {'connected_gene': 'EIF1P5', 'score': 0.77}]
chr17 GH17I021281 21281583 21290737 2.65 [{'connected_gene': 'MAP2K3', 'score': 569.75}, {'connected_gene': 'GC17P024329', 'score': 550.77}, {'connected_gene': 'KCNJ12', 'score': 14.8}, {'connected_gene': 'DHRS7B', 'score': 11.38}, {'connected_gene': 'NATD1', 'score': 4.56}]
chr17 GH17I021051 21051401 21052988 1.05 [{'connected_gene': 'CCDC144NL-AS1', 'score': 29.94}, {'connected_gene': 'USP22', 'score': 16.09}, {'connected_gene': 'DHRS7B', 'score': 11.56}, {'connected_gene': 'LINC01563', 'score': 0.34}]
chr17 GH17I021010 21010179 21017607 0.38 [{'connected_gene': 'CCDC144NL-AS1', 'score': 31.25}, {'connected_gene': 'USP22', 'score': 29.95}, {'connected_gene': 'DHRS7B', 'score': 10.66}, {'connected_gene': 'PIR42715', 'score': 0.44}, {'connected_gene': 'PIR42920', 'score': 0.44}]
chr17 GH17I021031 21031876 21036400 1.18 [{'connected_gene': 'CCDC144NL-AS1', 'score': 30.21}, {'connected_gene': 'USP22', 'score': 14.96}, {'connected_gene': 'DHRS7B', 'score': 11.46}, {'connected_gene': 'PIR42715', 'score': 0.39}]
chr17 GH17I021126 21125712 21128478 2.46 [{'connected_gene': 'DHRS7B', 'score': 557.64}, {'connected_gene': 'TMEM11', 'score': 9.14}, {'connected_gene': 'MAP2K3', 'score': 5.41}, {'connected_gene': 'KCNJ18', 'score': 3.07}, {'connected_gene': 'NATD1', 'score': 1.4}, {'connected_gene': 'GC17M021160', 'score': 0.29}]
chr17 GH17I021198 21198868 21202017 1.15 [{'connected_gene': 'DHRS7B', 'score': 18.22}, {'connected_gene': 'TMEM11', 'score': 11.95}, {'connected_gene': 'FAM106B', 'score': 5.42}, {'connected_gene': 'ENSG00000235530', 'score': 0.39}, {'connected_gene': 'GC17M021160', 'score': 0.28}]
chr17 GH17I021143 21143137 21144872 0.38 [{'connected_gene': 'DHRS7B', 'score': 19.93}, {'connected_gene': 'TMEM11', 'score': 9.61}, {'connected_gene': 'FAM106B', 'score': 4.47}, {'connected_gene': 'GC17M021160', 'score': 0.37}]
chr17 GH17I021209 21208369 21208862 0.2 [{'connected_gene': 'DHRS7B', 'score': 11.72}, {'connected_gene': 'TMEM11', 'score': 0.44}, {'connected_gene': 'ENSG00000235530', 'score': 0.44}, {'connected_gene': 'GC17M021160', 'score': 0.25}]
chr17 GH17I021202 21202286 21203475 0.43 [{'connected_gene': 'DHRS7B', 'score': 11.72}, {'connected_gene': 'TMEM11', 'score': 8.13}, {'connected_gene': 'ENSG00000235530', 'score': 0.39}, {'connected_gene': 'GC17M021160', 'score': 0.26}]
chr17 GH17I021278 21278188 21279400 0.96 [{'connected_gene': 'DHRS7B', 'score': 11.77}, {'connected_gene': 'MAP2K3', 'score': 0.44}, {'connected_gene': 'PIR52124', 'score': 0.44}]
chr17 GH17I021053 21053768 21053777 0.46 [{'connected_gene': 'DHRS7B', 'score': 11.57}, {'connected_gene': 'USP22', 'score': 0.39}, {'connected_gene': 'LINC01563', 'score': 0.34}]
chr17 GH17I021028 21028442 21030225 0.63 [{'connected_gene': 'DHRS7B', 'score': 11.25}, {'connected_gene': 'PIR42715', 'score': 0.44}, {'connected_gene': 'USP22', 'score': 0.39}]
chr17 GH17I021037 21037401 21037600 0.74 [{'connected_gene': 'DHRS7B', 'score': 10.99}, {'connected_gene': 'USP22', 'score': 0.44}, {'connected_gene': 'PIR42715', 'score': 0.37}]
chr17 GH17I021204 21204425 21205905 0.46 [{'connected_gene': 'DHRS7B', 'score': 11.73}, {'connected_gene': 'FAM106B', 'score': 5.41}, {'connected_gene': 'TMEM11', 'score': 0.44}, {'connected_gene': 'ENSG00000235530', 'score': 0.44}, {'connected_gene': 'GC17M021160', 'score': 0.26}]
chr17 GH17I021146 21146104 21147836 0.71 [{'connected_gene': 'DHRS7B', 'score': 12.58}, {'connected_gene': 'FAM106B', 'score': 4.47}, {'connected_gene': 'GC17M021160', 'score': 0.39}]
chr17 GH17I021125 21125151 21125521 0.51 [{'connected_gene': 'DHRS7B', 'score': 550.77}, {'connected_gene': 'GC17M021160', 'score': 0.28}]
chr17 GH17I021128 21128928 21129470 0.52 [{'connected_gene': 'DHRS7B', 'score': 0.44}, {'connected_gene': 'GC17M021160', 'score': 0.29}]
chr17 GH17I021124 21124059 21124600 0.63 [{'connected_gene': 'DHRS7B', 'score': 550.77}, {'connected_gene': 'GC17M021160', 'score': 0.28}]
chr17 GH17I021114 21113261 21114246 0.31 [{'connected_gene': 'USP22', 'score': 11.89}, {'connected_gene': 'DHRS7B', 'score': 0.44}, {'connected_gene': 'LINC01563', 'score': 0.28}]
chr17 GH17I021113 21113001 21113200 0.31 [{'connected_gene': 'USP22', 'score': 11.89}, {'connected_gene': 'DHRS7B', 'score': 0.39}, {'connected_gene': 'LINC01563', 'score': 0.28}]
chr17 GH17I021039 21039525 21045015 2.59 [{'connected_gene': 'USP22', 'score': 583.63}, {'connected_gene': 'MEIS3P2', 'score': 61.44}, {'connected_gene': 'UPF3AP2', 'score': 50.32}, {'connected_gene': 'ENSG00000266050', 'score': 34.95}, {'connected_gene': 'CCDC144NL-AS1', 'score': 30.09}, {'connected_gene': 'DHRS7B', 'score': 11.0}, {'connected_gene': 'RPL21P120', 'score': 10.87}, {'connected_gene': 'C17orf51', 'score': 9.89}, {'connected_gene': 'USP32P3', 'score': 3.9}, {'connected_gene': 'PIR42715', 'score': 0.34}]
chr17 GH17I020934 20934208 20937600 1.12 [{'connected_gene': 'USP22', 'score': 11.66}, {'connected_gene': 'AKAP10', 'score': 9.65}, {'connected_gene': 'ENSG00000266369', 'score': 7.52}, {'connected_gene': 'CCDC144NL-AS1', 'score': 6.35}, {'connected_gene': 'DHRS7B', 'score': 4.33}, {'connected_gene': 'ENSG00000265099', 'score': 0.77}, {'connected_gene': 'LOC105369205', 'score': 0.39}]
chr17 GH17I021227 21227791 21228522 0.79 [{'connected_gene': 'RN7SL426P', 'score': 550.77}, {'connected_gene': 'GC17M021230', 'score': 550.77}, {'connected_gene': 'DHRS7B', 'score': 16.08}, {'connected_gene': 'TMEM11', 'score': 0.39}, {'connected_gene': 'ENSG00000235530', 'score': 0.39}]
chr17 GH17I021260 21260601 21260800 0.4 [{'connected_gene': 'EIF1P5', 'score': 550.77}, {'connected_gene': 'MAP2K3', 'score': 11.9}, {'connected_gene': 'TMEM11', 'score': 11.72}, {'connected_gene': 'ENSG00000235530', 'score': 11.72}, {'connected_gene': 'DHRS7B', 'score': 11.54}, {'connected_gene': 'NATD1', 'score': 8.31}, {'connected_gene': 'PIR52124', 'score': 0.39}]
chr17 GH17I020919 20919712 20923083 0.96 [{'connected_gene': 'LOC105369205', 'score': 550.77}, {'connected_gene': 'ENSG00000266369', 'score': 8.92}, {'connected_gene': 'CCDC144NL', 'score': 7.29}, {'connected_gene': 'DHRS7B', 'score': 5.43}, {'connected_gene': 'ENSG00000265099', 'score': 0.37}, {'connected_gene': 'CCDC144NL-AS1', 'score': 0.23}]
chr17 GH17I021089 21089568 21090401 0.38 [{'connected_gene': 'LINC01563', 'score': 0.39}, {'connected_gene': 'DHRS7B', 'score': 0.29}]
chr17 GH17I021075 21075101 21076348 0.2 [{'connected_gene': 'LINC01563', 'score': 561.16}, {'connected_gene': 'USP22', 'score': 12.18}, {'connected_gene': 'CCDC144NL-AS1', 'score': 8.07}, {'connected_gene': 'DHRS7B', 'score': 0.25}]
chr17 GH17I021172 21172559 21174471 0.4 [{'connected_gene': 'FAM106B', 'score': 5.42}, {'connected_gene': 'GC17M021160', 'score': 0.39}, {'connected_gene': 'ENSG00000235530', 'score': 0.26}, {'connected_gene': 'DHRS7B', 'score': 0.23}]
chr17 GH17I021141 21141516 21143110 0.69 [{'connected_gene': 'FAM106B', 'score': 4.47}, {'connected_gene': 'DHRS7B', 'score': 0.37}, {'connected_gene': 'GC17M021160', 'score': 0.37}]
chr17 GH17I021140 21140601 21141228 0.77 [{'connected_gene': 'FAM106B', 'score': 4.46}, {'connected_gene': 'DHRS7B', 'score': 0.37}, {'connected_gene': 'GC17M021160', 'score': 0.34}]
chr17 GH17I021098 21098508 21100200 1.46 [{'connected_gene': 'KCNJ18', 'score': 2.2}, {'connected_gene': 'DHRS7B', 'score': 0.34}, {'connected_gene': 'LINC01563', 'score': 0.34}]
chr17 GH17I021239 21239808 21240203 0.59 [{'connected_gene': 'PIR36411', 'score': 550.77}, {'connected_gene': 'TMEM11', 'score': 13.15}, {'connected_gene': 'ENSG00000235530', 'score': 13.15}, {'connected_gene': 'DHRS7B', 'score': 11.4}, {'connected_gene': 'NATD1', 'score': 0.39}, {'connected_gene': 'RN7SL426P', 'score': 0.39}, {'connected_gene': 'GC17M021230', 'score': 0.39}]
chr17 GH17I021243 21240408 21240497 0.31 [{'connected_gene': 'PIR36411', 'score': 550.77}, {'connected_gene': 'PIR52097', 'score': 550.77}, {'connected_gene': 'TMEM11', 'score': 13.15}, {'connected_gene': 'ENSG00000235530', 'score': 13.15}, {'connected_gene': 'DHRS7B', 'score': 11.4}, {'connected_gene': 'NATD1', 'score': 0.39}, {'connected_gene': 'RN7SL426P', 'score': 0.39}, {'connected_gene': 'GC17M021230', 'score': 0.39}]
chr17 GH17I021240 21240348 21240389 0.31 [{'connected_gene': 'PIR36411', 'score': 550.77}, {'connected_gene': 'PIR52097', 'score': 550.77}, {'connected_gene': 'TMEM11', 'score': 13.15}, {'connected_gene': 'ENSG00000235530', 'score': 13.15}, {'connected_gene': 'DHRS7B', 'score': 11.4}, {'connected_gene': 'NATD1', 'score': 0.39}, {'connected_gene': 'RN7SL426P', 'score': 0.39}, {'connected_gene': 'GC17M021230', 'score': 0.39}]
chr17 GH17I021241 21241823 21242344 0.63 [{'connected_gene': 'PIR52097', 'score': 550.77}, {'connected_gene': 'PIR36411', 'score': 550.77}, {'connected_gene': 'TMEM11', 'score': 13.15}, {'connected_gene': 'ENSG00000235530', 'score': 13.15}, {'connected_gene': 'DHRS7B', 'score': 11.4}, {'connected_gene': 'NATD1', 'score': 0.39}]
chr17 GH17I021242 21242640 21244218 0.63 [{'connected_gene': 'PIR52097', 'score': 550.77}, {'connected_gene': 'TMEM11', 'score': 13.15}, {'connected_gene': 'ENSG00000235530', 'score': 13.15}, {'connected_gene': 'DHRS7B', 'score': 11.4}, {'connected_gene': 'OLA1P2', 'score': 4.1}, {'connected_gene': 'NATD1', 'score': 0.44}]
chr17 GH17I021164 21164245 21165340 0.31 [{'connected_gene': 'GC17M021160', 'score': 0.77}, {'connected_gene': 'DHRS7B', 'score': 0.26}, {'connected_gene': 'ENSG00000235530', 'score': 0.25}]
chr17 GH17I021171 21171000 21171200 0.4 [{'connected_gene': 'GC17M021160', 'score': 0.44}, {'connected_gene': 'ENSG00000235530', 'score': 0.26}, {'connected_gene': 'DHRS7B', 'score': 0.25}]
chr17 GH17I021188 21188823 21189975 0.2 [{'connected_gene': 'ENSG00000235530', 'score': 5.55}, {'connected_gene': 'GC17M021160', 'score': 0.31}, {'connected_gene': 'DHRS7B', 'score': 0.2}]
chr17 GH17I021160 21160806 21164142 1.02 [{'connected_gene': 'GC17M021160', 'score': 550.77}, {'connected_gene': 'FAM106B', 'score': 4.49}, {'connected_gene': 'DHRS7B', 'score': 0.28}, {'connected_gene': 'ENSG00000235530', 'score': 0.23}]

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