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
ENST00000529410 [[130334843, 130334865], [130337370, 130337437], [130339513, 130339809], [130343371, 130343450], [130363829, 130363946], [130370426, 130370538], [130370900, 130370975], [130372393, 130372553], [130374003, 130374136], [130376315, 130376400], [130378550, 130378642], [130381180, 130381285], [130387497, 130387633], [130389474, 130389566], [130392120, 130392272], [130399702, 130399779], [130404764, 130404850], [130407284, 130407395], [130413889, 130414004], [130415409, 130415512], [130425570, 130425720], [130442023, 130442103], [130454596, 130454766], [130454987, 130455050], [130460754, 130462594]] [[130363844, 130363946], [130370426, 130370538], [130370900, 130370975], [130372393, 130372553], [130374003, 130374136], [130376315, 130376400], [130378550, 130378642], [130381180, 130381285], [130387497, 130387633], [130389474, 130389566], [130392120, 130392272], [130399702, 130399779], [130404764, 130404850], [130407284, 130407395], [130413889, 130414004], [130415409, 130415512], [130425570, 130425720], [130442023, 130442103], [130454596, 130454766], [130454987, 130455050], [130460754, 130460898]]
ENST00000533560 [[130339733, 130339809], [130343371, 130343450], [130363829, 130363946], [130370426, 130370538], [130372393, 130372553], [130374003, 130374136], [130376315, 130376400], [130378550, 130378642], [130381180, 130381285], [130387497, 130387633], [130389474, 130389566], [130392120, 130392272], [130399702, 130399779], [130404764, 130404850], [130407284, 130407395], [130413889, 130414004], [130415409, 130415512], [130425570, 130425720], [130442023, 130442103], [130454596, 130454766], [130454987, 130455050], [130460754, 130461625]] [[130363844, 130363946], [130370426, 130370538], [130372393, 130372553], [130374003, 130374136], [130376315, 130376400], [130378550, 130378642], [130381180, 130381285], [130387497, 130387633], [130389474, 130389566], [130392120, 130392272], [130399702, 130399779], [130404764, 130404850], [130407284, 130407395], [130413889, 130414004], [130415409, 130415512], [130425570, 130425720], [130442023, 130442103], [130454596, 130454766], [130454987, 130455050], [130460754, 130460898]]
ENST00000361794 [[130339733, 130339809], [130343371, 130343450], [130363829, 130363946], [130370426, 130370538], [130370900, 130370975], [130372393, 130372553], [130374003, 130374136], [130376315, 130376400], [130378550, 130378642], [130381180, 130381285], [130387497, 130387633], [130389474, 130389566], [130392120, 130392272], [130399702, 130399779], [130404764, 130404850], [130407284, 130407395], [130413889, 130414004], [130415409, 130415512], [130425570, 130425720], [130442023, 130442103], [130454596, 130454766], [130454987, 130455050], [130460754, 130462582]] [[130363844, 130363946], [130370426, 130370538], [130370900, 130370975], [130372393, 130372553], [130374003, 130374136], [130376315, 130376400], [130378550, 130378642], [130381180, 130381285], [130387497, 130387633], [130389474, 130389566], [130392120, 130392272], [130399702, 130399779], [130404764, 130404850], [130407284, 130407395], [130413889, 130414004], [130415409, 130415512], [130425570, 130425720], [130442023, 130442103], [130454596, 130454766], [130454987, 130455050], [130460754, 130460898]]
ENST00000368139 [[130341635, 130341813], [130363829, 130363946], [130370426, 130370538], [130372393, 130372553], [130374003, 130374136], [130376315, 130376400], [130378550, 130378642], [130381180, 130381285], [130387497, 130387633], [130389474, 130389566], [130392120, 130392272], [130399702, 130399779], [130404764, 130404850], [130407284, 130407395], [130413889, 130414004], [130415409, 130415512], [130425570, 130425720], [130442023, 130442103], [130454596, 130454766], [130454987, 130455050], [130460754, 130462585]] [[130363844, 130363946], [130370426, 130370538], [130372393, 130372553], [130374003, 130374136], [130376315, 130376400], [130378550, 130378642], [130381180, 130381285], [130387497, 130387633], [130389474, 130389566], [130392120, 130392272], [130399702, 130399779], [130404764, 130404850], [130407284, 130407395], [130413889, 130414004], [130415409, 130415512], [130425570, 130425720], [130442023, 130442103], [130454596, 130454766], [130454987, 130455050], [130460754, 130460898]]
ENST00000526019 [[130341664, 130341813], [130343371, 130343450], [130363829, 130363946], [130370426, 130370538], [130372393, 130372553], [130374003, 130374136], [130376315, 130376400], [130378550, 130378642], [130381180, 130381285], [130387497, 130387633], [130389474, 130389566], [130392120, 130392272], [130399702, 130399779], [130404764, 130404850], [130407284, 130407395], [130413889, 130414004], [130415409, 130415512], [130425570, 130425720], [130442023, 130442103], [130454596, 130454766], [130454987, 130455050], [130460754, 130461630]] [[130363844, 130363946], [130370426, 130370538], [130372393, 130372553], [130374003, 130374136], [130376315, 130376400], [130378550, 130378642], [130381180, 130381285], [130387497, 130387633], [130389474, 130389566], [130392120, 130392272], [130399702, 130399779], [130404764, 130404850], [130407284, 130407395], [130413889, 130414004], [130415409, 130415512], [130425570, 130425720], [130442023, 130442103], [130454596, 130454766], [130454987, 130455050], [130460754, 130460898]]
ENST00000368136 [[130341701, 130341813], [130343371, 130343450], [130363829, 130363946], [130370426, 130370538], [130370900, 130370975], [130372393, 130372553], [130374003, 130374136], [130376315, 130376400], [130378550, 130378642], [130381180, 130381285], [130387497, 130387633], [130389474, 130389566], [130392120, 130392272], [130399702, 130399779], [130404764, 130404850], [130407284, 130407395], [130413889, 130414004], [130415409, 130415512], [130425570, 130425720], [130442023, 130442103], [130454596, 130454766], [130454987, 130455050], [130460754, 130462584]] [[130363844, 130363946], [130370426, 130370538], [130370900, 130370975], [130372393, 130372553], [130374003, 130374136], [130376315, 130376400], [130378550, 130378642], [130381180, 130381285], [130387497, 130387633], [130389474, 130389566], [130392120, 130392272], [130399702, 130399779], [130404764, 130404850], [130407284, 130407395], [130413889, 130414004], [130415409, 130415512], [130425570, 130425720], [130442023, 130442103], [130454596, 130454766], [130454987, 130455050], [130460754, 130460898]]
ENST00000526087 [[130339727, 130339809], [130343371, 130343450], [130363829, 130363946], [130370426, 130370538], [130370795, 130370975], [130372393, 130372488]] [[130363844, 130363946], [130370426, 130370538], [130370795, 130370975], [130372393, 130372488]]
ENST00000528385 [[130340511, 130340608], [130343371, 130343450], [130363829, 130363946], [130370426, 130370538], [130370900, 130370975], [130372393, 130372553], [130374003, 130374125]] [[130363844, 130363946], [130370426, 130370538], [130370900, 130370975], [130372393, 130372553], [130374003, 130374125]]
ENST00000531313 [[130376231, 130376400], [130378550, 130378642], [130381180, 130381285], [130387497, 130387633], [130389474, 130389516]] None
ENST00000533890 [[130391991, 130392272], [130399702, 130399779], [130404764, 130404850], [130407284, 130407395], [130413889, 130413906]] None
NM_001007102 [[130339513, 130339809], [130343371, 130343450], [130363829, 130363946], [130370426, 130370538], [130372393, 130372553], [130374003, 130374136], [130376315, 130376400], [130378550, 130378642], [130381180, 130381285], [130387497, 130387633], [130389474, 130389566], [130392120, 130392272], [130399702, 130399779], [130404764, 130404850], [130407284, 130407395], [130413889, 130414004], [130415409, 130415512], [130425570, 130425720], [130442023, 130442103], [130454596, 130454766], [130454987, 130455050], [130460754, 130462594]] [[130363844, 130363946], [130370426, 130370538], [130372393, 130372553], [130374003, 130374136], [130376315, 130376400], [130378550, 130378642], [130381180, 130381285], [130387497, 130387633], [130389474, 130389566], [130392120, 130392272], [130399702, 130399779], [130404764, 130404850], [130407284, 130407395], [130413889, 130414004], [130415409, 130415512], [130425570, 130425720], [130442023, 130442103], [130454596, 130454766], [130454987, 130455050], [130460754, 130460898]]
NM_032438 [[130339513, 130339809], [130343371, 130343450], [130363829, 130363946], [130370426, 130370538], [130370900, 130370975], [130372393, 130372553], [130374003, 130374136], [130376315, 130376400], [130378550, 130378642], [130381180, 130381285], [130387497, 130387633], [130389474, 130389566], [130392120, 130392272], [130399702, 130399779], [130404764, 130404850], [130407284, 130407395], [130413889, 130414004], [130415409, 130415512], [130425570, 130425720], [130442023, 130442103], [130454596, 130454766], [130454987, 130455050], [130460754, 130462594]] [[130363844, 130363946], [130370426, 130370538], [130370900, 130370975], [130372393, 130372553], [130374003, 130374136], [130376315, 130376400], [130378550, 130378642], [130381180, 130381285], [130387497, 130387633], [130389474, 130389566], [130392120, 130392272], [130399702, 130399779], [130404764, 130404850], [130407284, 130407395], [130413889, 130414004], [130415409, 130415512], [130425570, 130425720], [130442023, 130442103], [130454596, 130454766], [130454987, 130455050], [130460754, 130460898]]
NM_001346551 [[130340204, 130340382], [130343371, 130343450], [130363829, 130363946], [130370426, 130370538], [130372393, 130372553], [130374003, 130374136], [130376315, 130376400], [130378550, 130378642], [130381180, 130381285], [130387497, 130387633], [130389474, 130389566], [130392120, 130392272], [130399702, 130399779], [130404764, 130404850], [130407284, 130407395], [130413889, 130414004], [130415409, 130415512], [130425570, 130425720], [130442023, 130442103], [130454596, 130454766], [130454987, 130455050], [130460754, 130462594]] [[130363844, 130363946], [130370426, 130370538], [130372393, 130372553], [130374003, 130374136], [130376315, 130376400], [130378550, 130378642], [130381180, 130381285], [130387497, 130387633], [130389474, 130389566], [130392120, 130392272], [130399702, 130399779], [130404764, 130404850], [130407284, 130407395], [130413889, 130414004], [130415409, 130415512], [130425570, 130425720], [130442023, 130442103], [130454596, 130454766], [130454987, 130455050], [130460754, 130460898]]
NM_001346550 [[130340788, 130340858], [130343371, 130343450], [130363829, 130363946], [130370426, 130370538], [130372393, 130372553], [130374003, 130374136], [130376315, 130376400], [130378550, 130378642], [130381180, 130381285], [130387497, 130387633], [130389474, 130389566], [130392120, 130392272], [130399702, 130399779], [130404764, 130404850], [130407284, 130407395], [130413889, 130414004], [130415409, 130415512], [130425570, 130425720], [130442023, 130442103], [130454596, 130454766], [130454987, 130455050], [130460754, 130462594]] [[130363844, 130363946], [130370426, 130370538], [130372393, 130372553], [130374003, 130374136], [130376315, 130376400], [130378550, 130378642], [130381180, 130381285], [130387497, 130387633], [130389474, 130389566], [130392120, 130392272], [130399702, 130399779], [130404764, 130404850], [130407284, 130407395], [130413889, 130414004], [130415409, 130415512], [130425570, 130425720], [130442023, 130442103], [130454596, 130454766], [130454987, 130455050], [130460754, 130460898]]
Promoter
Chrom Start End Description
chr6 130339710 130339745 CAGE_peak_1_at_L3MBTL3_5end
chr6 130339753 130339762 CAGE_peak_2_at_L3MBTL3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I129700 129700540 129703501 1.31 [{'connected_gene': 'ARHGAP18', 'score': 8.86}, {'connected_gene': 'L3MBTL3', 'score': 1.34}, {'connected_gene': 'LOC102723409', 'score': 0.11}]
chr6 GH06I129707 129707447 129711213 2.45 [{'connected_gene': 'ARHGAP18', 'score': 563.51}, {'connected_gene': 'L3MBTL3', 'score': 12.83}, {'connected_gene': 'ENSG00000227678', 'score': 10.99}, {'connected_gene': 'LOC102723409', 'score': 0.1}]
chr6 GH06I129677 129677264 129690196 1.82 [{'connected_gene': 'ARHGAP18', 'score': 18.22}, {'connected_gene': 'RPL5P21', 'score': 11.81}, {'connected_gene': 'L3MBTL3', 'score': 11.18}, {'connected_gene': 'LOC102723409', 'score': 0.12}]
chr6 GH06I129691 129691096 129693782 1.1 [{'connected_gene': 'L3MBTL3', 'score': 9.78}, {'connected_gene': 'ARHGAP18', 'score': 4.79}, {'connected_gene': 'LOC102723409', 'score': 0.12}]
chr6 GH06I129923 129923800 129924001 0.43 [{'connected_gene': 'L3MBTL3', 'score': 0.23}, {'connected_gene': 'TMEM244', 'score': 0.21}, {'connected_gene': 'LOC105377999', 'score': 0.2}]
chr6 GH06I129946 129946876 129947025 0.43 [{'connected_gene': 'L3MBTL3', 'score': 10.8}, {'connected_gene': 'TMEM244', 'score': 0.17}, {'connected_gene': 'LOC105377999', 'score': 0.16}]
chr6 GH06I129894 129894427 129896106 0.72 [{'connected_gene': 'L3MBTL3', 'score': 10.63}, {'connected_gene': 'TMEM244', 'score': 5.57}, {'connected_gene': 'LOC105377999', 'score': 0.28}]
chr6 GH06I129930 129930676 129930680 0.22 [{'connected_gene': 'L3MBTL3', 'score': 0.25}, {'connected_gene': 'TMEM244', 'score': 0.2}, {'connected_gene': 'LOC105377999', 'score': 0.18}]
chr6 GH06I129947 129947183 129947486 0.38 [{'connected_gene': 'L3MBTL3', 'score': 10.8}, {'connected_gene': 'TMEM244', 'score': 0.17}, {'connected_gene': 'LOC105377999', 'score': 0.16}]
chr6 GH06I130129 130129873 130134801 0.66 [{'connected_gene': 'L3MBTL3', 'score': 10.12}, {'connected_gene': 'SAMD3', 'score': 6.81}, {'connected_gene': 'LOC105378000', 'score': 0.39}, {'connected_gene': 'ENSG00000227678', 'score': 0.39}]
chr6 GH06I130137 130137547 130139541 0.46 [{'connected_gene': 'L3MBTL3', 'score': 8.69}, {'connected_gene': 'ENSG00000227678', 'score': 0.44}, {'connected_gene': 'LOC105378000', 'score': 0.37}, {'connected_gene': 'SAMD3', 'score': 0.07}]
chr6 GH06I130033 130033866 130035079 0.91 [{'connected_gene': 'L3MBTL3', 'score': 0.22}, {'connected_gene': 'LOC105378000', 'score': 0.17}]
chr6 GH06I130027 130027996 130028145 0.2 [{'connected_gene': 'L3MBTL3', 'score': 0.25}, {'connected_gene': 'LOC105378000', 'score': 0.16}]
chr6 GH06I130035 130035336 130035485 0.63 [{'connected_gene': 'L3MBTL3', 'score': 22.72}, {'connected_gene': 'LOC105378000', 'score': 0.17}]
chr6 GH06I130017 130017901 130021785 2.26 [{'connected_gene': 'L3MBTL3', 'score': 561.77}, {'connected_gene': 'RPL5P21', 'score': 11.06}, {'connected_gene': 'ARHGAP18', 'score': 10.02}, {'connected_gene': 'SAMD3', 'score': 2.17}, {'connected_gene': 'LOC105378000', 'score': 0.15}]
chr6 GH06I129921 129921276 129921425 0.59 [{'connected_gene': 'TMEM244', 'score': 0.22}, {'connected_gene': 'L3MBTL3', 'score': 0.22}, {'connected_gene': 'LOC105377999', 'score': 0.2}]
chr6 GH06I129891 129891761 129892112 0.24 [{'connected_gene': 'TMEM244', 'score': 11.25}, {'connected_gene': 'L3MBTL3', 'score': 10.8}, {'connected_gene': 'RPL5P21', 'score': 9.53}, {'connected_gene': 'LOC105377999', 'score': 0.28}]
chr6 GH06I129889 129889059 129891127 0.82 [{'connected_gene': 'TMEM244', 'score': 11.26}, {'connected_gene': 'L3MBTL3', 'score': 10.8}, {'connected_gene': 'RPL5P21', 'score': 10.45}, {'connected_gene': 'LOC105377999', 'score': 0.29}, {'connected_gene': 'GC06P129854', 'score': 0.28}]
chr6 GH06I129875 129875801 129876400 0.64 [{'connected_gene': 'TMEM244', 'score': 6.29}, {'connected_gene': 'LOC105377999', 'score': 0.34}, {'connected_gene': 'GC06P129854', 'score': 0.34}, {'connected_gene': 'L3MBTL3', 'score': 0.15}]
chr6 GH06I129863 129863292 129864692 0.46 [{'connected_gene': 'TMEM244', 'score': 0.77}, {'connected_gene': 'LOC105377999', 'score': 0.44}, {'connected_gene': 'GC06P129854', 'score': 0.44}, {'connected_gene': 'L3MBTL3', 'score': 0.14}]
chr6 GH06I129919 129919497 129921233 0.8 [{'connected_gene': 'BMPR1APS1', 'score': 11.53}, {'connected_gene': 'TMEM244', 'score': 0.22}, {'connected_gene': 'L3MBTL3', 'score': 0.22}, {'connected_gene': 'LOC105377999', 'score': 0.21}]
chr6 GH06I129881 129881983 129883260 0.92 [{'connected_gene': 'RPL5P21', 'score': 10.02}, {'connected_gene': 'L3MBTL3', 'score': 9.91}, {'connected_gene': 'TMEM244', 'score': 0.34}, {'connected_gene': 'LOC105377999', 'score': 0.31}, {'connected_gene': 'GC06P129854', 'score': 0.31}]
chr6 GH06I129936 129936401 129936999 0.69 [{'connected_gene': 'RPL5P21', 'score': 10.72}, {'connected_gene': 'L3MBTL3', 'score': 0.26}, {'connected_gene': 'TMEM244', 'score': 0.18}, {'connected_gene': 'LOC105377999', 'score': 0.18}]
chr6 GH06I130114 130114799 130115725 0.59 [{'connected_gene': 'ENSG00000227678', 'score': 11.41}, {'connected_gene': 'L3MBTL3', 'score': 7.35}, {'connected_gene': 'LOC105378000', 'score': 0.44}]
chr6 GH06I130116 130116456 130116605 0.31 [{'connected_gene': 'ENSG00000227678', 'score': 11.43}, {'connected_gene': 'LOC105378000', 'score': 0.77}, {'connected_gene': 'L3MBTL3', 'score': 0.12}]

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