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
ENST00000377753 [[37753803, 37753849], [37761899, 37762114], [37768072, 37768225], [37769937, 37770016], [37770668, 37770736], [37776278, 37776402], [37777624, 37778433]] [[37761928, 37762114], [37768072, 37768225], [37769937, 37770016], [37770668, 37770736], [37776278, 37776402], [37777624, 37777704]]
ENST00000537911 [[37753809, 37753849], [37761899, 37762114], [37762573, 37762682], [37763625, 37763750], [37769937, 37770016], [37770668, 37770736], [37776278, 37776402], [37777624, 37777909]] [[37761928, 37762114], [37762573, 37762682], [37763625, 37763750], [37769937, 37770016], [37770668, 37770736], [37776278, 37776402], [37777624, 37777704]]
ENST00000540616 [[37753813, 37753849], [37761899, 37762114], [37762539, 37762682], [37763625, 37763754]] [[37761928, 37762114], [37762539, 37762572]]
ENST00000538370 [[37753813, 37753849], [37761899, 37762114], [37763625, 37763862], [37768072, 37768160]] [[37761928, 37762114], [37763625, 37763658]]
ENST00000537016 [[37753813, 37753849], [37761899, 37762114], [37762573, 37762682], [37763625, 37763750], [37769941, 37770016], [37770668, 37770736], [37776278, 37776427]] [[37761928, 37762114], [37762573, 37762682], [37763625, 37763750], [37769941, 37769947]]
ENST00000488673 [[37753813, 37753849], [37761899, 37762114], [37762573, 37762682], [37763625, 37763862], [37768072, 37768225], [37769937, 37770016], [37770668, 37770736], [37776278, 37776402], [37777597, 37778019]] [[37761928, 37762114], [37762573, 37762682], [37763625, 37763855]]
ENST00000377754 [[37753813, 37753849], [37761899, 37762114], [37763625, 37763750], [37768072, 37768225], [37769937, 37770016], [37770668, 37770736], [37776278, 37776402], [37777597, 37778678]] [[37762104, 37762114], [37763625, 37763750], [37768072, 37768225], [37769937, 37770016], [37770668, 37770736], [37776278, 37776402], [37777597, 37777704]]
ENST00000297994 [[37753813, 37753849], [37761899, 37762114], [37762573, 37762682], [37763625, 37763750], [37768072, 37768225], [37769937, 37770016], [37770668, 37770736], [37776278, 37776402], [37777597, 37778969]] [[37761928, 37762114], [37762573, 37762682], [37763625, 37763750], [37768072, 37768225], [37769937, 37770016], [37770668, 37770736], [37776278, 37776402], [37777597, 37777704]]
ENST00000509577 [[37769553, 37770016], [37770668, 37770752]] None
NM_001286953 [[37753799, 37753849], [37761899, 37762114], [37768083, 37768225], [37769937, 37770016], [37770668, 37770736], [37776278, 37776402], [37777624, 37778969]] [[37762016, 37762114], [37768083, 37768225], [37769937, 37770016], [37770668, 37770736], [37776278, 37776402], [37777624, 37777704]]
NM_001286952 [[37753799, 37753849], [37761899, 37762114], [37768072, 37768225], [37769937, 37770016], [37770668, 37770736], [37776278, 37776402], [37777624, 37778969]] [[37761928, 37762114], [37768072, 37768225], [37769937, 37770016], [37770668, 37770736], [37776278, 37776402], [37777624, 37777704]]
NM_001286951 [[37753799, 37753849], [37761899, 37762114], [37763625, 37763750], [37768072, 37768225], [37769937, 37770016], [37770668, 37770736], [37776278, 37776402], [37777597, 37778969]] [[37762104, 37762114], [37763625, 37763750], [37768072, 37768225], [37769937, 37770016], [37770668, 37770736], [37776278, 37776402], [37777597, 37777704]]
NM_001286954 [[37753799, 37753849], [37761899, 37762114], [37762573, 37762682], [37763625, 37763750], [37769941, 37770016], [37770668, 37770736], [37776278, 37776402], [37777624, 37778969]] [[37762104, 37762114], [37762573, 37762682], [37763625, 37763750], [37769941, 37770016], [37770668, 37770736], [37776278, 37776402], [37777624, 37777704]]
NM_001286950 [[37753799, 37753849], [37761899, 37762114], [37762573, 37762682], [37763625, 37763750], [37769937, 37770016], [37770668, 37770736], [37776278, 37776402], [37777624, 37778969]] [[37761928, 37762114], [37762573, 37762682], [37763625, 37763750], [37769937, 37770016], [37770668, 37770736], [37776278, 37776402], [37777624, 37777704]]
NM_144964 [[37753799, 37753849], [37761899, 37762114], [37762573, 37762682], [37763625, 37763750], [37768072, 37768225], [37769937, 37770016], [37770668, 37770736], [37776278, 37776402], [37777597, 37778969]] [[37761928, 37762114], [37762573, 37762682], [37763625, 37763750], [37768072, 37768225], [37769937, 37770016], [37770668, 37770736], [37776278, 37776402], [37777597, 37777704]]
NR_104612 [[37753799, 37753849], [37761899, 37762114], [37762573, 37762682], [37763625, 37763862], [37768072, 37768225], [37769937, 37770016], [37770668, 37770736], [37776278, 37776402], [37777597, 37778969]] None
Promoter
Chrom Start End Description
chr9 37753795 37753820 CAGE_peak_1_at_RG9MTD3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I037463 37463345 37469184 2.28 [{'connected_gene': 'ZBTB5', 'score': 574.67}, {'connected_gene': 'DCAF10', 'score': 40.25}, {'connected_gene': 'EXOSC3', 'score': 40.2}, {'connected_gene': 'ZCCHC7', 'score': 31.65}, {'connected_gene': 'RPL21P83', 'score': 15.18}, {'connected_gene': 'RNF38', 'score': 12.37}, {'connected_gene': 'TRMT10B', 'score': 12.04}, {'connected_gene': 'GRHPR', 'score': 11.35}, {'connected_gene': 'TMX2P1', 'score': 11.23}, {'connected_gene': 'POLR1E', 'score': 10.12}, {'connected_gene': 'KCTD9P3', 'score': 0.39}]
chr9 GH09I037902 37902074 37905473 2.31 [{'connected_gene': 'SLC25A51', 'score': 550.77}, {'connected_gene': 'ZCCHC7', 'score': 16.42}, {'connected_gene': 'TRMT10B', 'score': 12.75}, {'connected_gene': 'TMX2P1', 'score': 11.53}, {'connected_gene': 'EXOSC3', 'score': 10.49}, {'connected_gene': 'POLR1E', 'score': 9.95}, {'connected_gene': 'PIR53315', 'score': 0.39}, {'connected_gene': 'PAICSP1', 'score': 0.31}, {'connected_gene': 'GC09M038093', 'score': 0.18}, {'connected_gene': 'ENSG00000255872', 'score': 0.1}]
chr9 GH09I037760 37760173 37762693 0.66 [{'connected_gene': 'SLC25A51', 'score': 13.73}, {'connected_gene': 'TRMT10B', 'score': 0.44}, {'connected_gene': 'GC09M037773', 'score': 0.39}, {'connected_gene': 'ENSG00000255872', 'score': 0.06}]
chr9 GH09I037692 37692244 37693981 0.63 [{'connected_gene': 'ZCCHC7', 'score': 21.53}, {'connected_gene': 'FRMPD1', 'score': 20.43}, {'connected_gene': 'EXOSC3', 'score': 12.33}, {'connected_gene': 'DCAF10', 'score': 12.31}, {'connected_gene': 'ZBTB5', 'score': 10.73}, {'connected_gene': 'POLR1E', 'score': 10.09}, {'connected_gene': 'RPL21P83', 'score': 6.58}, {'connected_gene': 'GC09M037661', 'score': 0.29}, {'connected_gene': 'RN7SKP171', 'score': 0.29}, {'connected_gene': 'TRMT10B', 'score': 0.21}, {'connected_gene': 'ENSG00000255872', 'score': 0.05}]
chr9 GH09I037166 37166448 37168768 0.49 [{'connected_gene': 'ZCCHC7', 'score': 13.63}, {'connected_gene': 'TRMT10B', 'score': 12.37}, {'connected_gene': 'ZBTB5', 'score': 11.1}, {'connected_gene': 'HMGB3P24', 'score': 9.75}, {'connected_gene': 'LOC105376033', 'score': 0.44}, {'connected_gene': 'GC09P037179', 'score': 0.39}]
chr9 GH09I038045 38045450 38049808 1.43 [{'connected_gene': 'ZCCHC7', 'score': 10.97}, {'connected_gene': 'TRMT10B', 'score': 10.8}, {'connected_gene': 'RNU7-124P', 'score': 10.59}, {'connected_gene': 'SLC25A51', 'score': 10.19}, {'connected_gene': 'SHB', 'score': 8.62}, {'connected_gene': 'GC09P038069', 'score': 0.34}, {'connected_gene': 'ENSG00000255872', 'score': 0.34}, {'connected_gene': 'GC09M038093', 'score': 0.2}]
chr9 GH09I037119 37119529 37122233 2.3 [{'connected_gene': 'ZCCHC7', 'score': 583.21}, {'connected_gene': 'LOC105376034', 'score': 550.77}, {'connected_gene': 'EXOSC3', 'score': 30.61}, {'connected_gene': 'DCAF10', 'score': 16.79}, {'connected_gene': 'TRMT10B', 'score': 13.12}, {'connected_gene': 'ZBTB5', 'score': 12.77}, {'connected_gene': 'HMGB3P24', 'score': 10.6}, {'connected_gene': 'GC09P037160', 'score': 0.28}]
chr9 GH09I038175 38175604 38177083 0.69 [{'connected_gene': 'EXOSC3', 'score': 32.79}, {'connected_gene': 'ZBTB5', 'score': 32.09}, {'connected_gene': 'DCAF10', 'score': 30.13}, {'connected_gene': 'TRMT10B', 'score': 25.31}, {'connected_gene': 'ENSG00000200026', 'score': 11.8}, {'connected_gene': 'TMX2P1', 'score': 11.25}, {'connected_gene': 'RPL21P83', 'score': 10.11}, {'connected_gene': 'POLR1E', 'score': 9.69}, {'connected_gene': 'PIR59956', 'score': 0.77}, {'connected_gene': 'PIR60591', 'score': 0.37}]
chr9 GH09I037799 37799682 37802575 2.14 [{'connected_gene': 'EXOSC3', 'score': 579.34}, {'connected_gene': 'DCAF10', 'score': 561.97}, {'connected_gene': 'TRMT10B', 'score': 34.5}, {'connected_gene': 'ZBTB5', 'score': 30.73}, {'connected_gene': 'ZCCHC7', 'score': 23.66}, {'connected_gene': 'POLR1E', 'score': 20.02}, {'connected_gene': 'SLC25A51', 'score': 13.16}, {'connected_gene': 'TMX2P1', 'score': 11.37}, {'connected_gene': 'RPL21P83', 'score': 10.14}, {'connected_gene': 'ENSG00000255872', 'score': 0.06}]
chr9 GH09I037667 37667728 37668712 0.51 [{'connected_gene': 'TOMM5', 'score': 10.74}, {'connected_gene': 'ENSG00000256966', 'score': 10.74}, {'connected_gene': 'FBXO10', 'score': 10.72}, {'connected_gene': 'FRMPD1', 'score': 6.88}, {'connected_gene': 'GC09M037661', 'score': 0.44}, {'connected_gene': 'RN7SKP171', 'score': 0.44}, {'connected_gene': 'TRMT10B', 'score': 0.18}, {'connected_gene': 'ENSG00000255872', 'score': 0.05}]
chr9 GH09I038619 38619629 38621601 1.99 [{'connected_gene': 'ANKRD18A', 'score': 562.86}, {'connected_gene': 'FAM201A', 'score': 558.52}, {'connected_gene': 'TRMT10B', 'score': 14.06}, {'connected_gene': 'EXOSC3', 'score': 10.64}]
chr9 GH09I037706 37706002 37706962 0.6 [{'connected_gene': 'FRMPD1', 'score': 24.86}, {'connected_gene': 'ZCCHC7', 'score': 13.24}, {'connected_gene': 'ZBTB5', 'score': 12.9}, {'connected_gene': 'DCAF10', 'score': 11.36}, {'connected_gene': 'TMX2P1', 'score': 11.28}, {'connected_gene': 'EXOSC3', 'score': 10.71}, {'connected_gene': 'RPL21P83', 'score': 10.16}, {'connected_gene': 'GC09M037661', 'score': 0.26}, {'connected_gene': 'RN7SKP171', 'score': 0.26}, {'connected_gene': 'TRMT10B', 'score': 0.25}, {'connected_gene': 'ENSG00000255872', 'score': 0.05}]
chr9 GH09I037679 37679075 37679134 1.03 [{'connected_gene': 'FRMPD1', 'score': 561.2}, {'connected_gene': 'TOMM5', 'score': 11.26}, {'connected_gene': 'ENSG00000256966', 'score': 11.26}, {'connected_gene': 'FBXO10', 'score': 11.24}, {'connected_gene': 'GC09M037661', 'score': 0.37}, {'connected_gene': 'RN7SKP171', 'score': 0.37}, {'connected_gene': 'TRMT10B', 'score': 0.19}, {'connected_gene': 'ENSG00000255872', 'score': 0.05}]
chr9 GH09I037675 37675502 37678159 0.38 [{'connected_gene': 'FRMPD1', 'score': 19.52}, {'connected_gene': 'TOMM5', 'score': 11.55}, {'connected_gene': 'ENSG00000256966', 'score': 11.55}, {'connected_gene': 'FBXO10', 'score': 11.52}, {'connected_gene': 'RPL21P83', 'score': 5.95}, {'connected_gene': 'GC09M037661', 'score': 0.39}, {'connected_gene': 'RN7SKP171', 'score': 0.39}, {'connected_gene': 'TRMT10B', 'score': 0.18}, {'connected_gene': 'ENSG00000255872', 'score': 0.05}]
chr9 GH09I038318 38318532 38320316 0.99 [{'connected_gene': 'TRMT10B', 'score': 12.36}, {'connected_gene': 'ZBTB5', 'score': 11.06}, {'connected_gene': 'ALDH1B1', 'score': 10.76}, {'connected_gene': 'SLC25A51', 'score': 10.55}, {'connected_gene': 'RNU7-124P', 'score': 9.95}, {'connected_gene': 'ENSG00000255872', 'score': 9.88}, {'connected_gene': 'SHB', 'score': 9.88}, {'connected_gene': 'PIR45801', 'score': 0.44}, {'connected_gene': 'GC09P038330', 'score': 0.44}, {'connected_gene': 'GC09P038332', 'score': 0.44}, {'connected_gene': 'GC09P038329', 'score': 0.44}, {'connected_gene': 'GC09P038333', 'score': 0.44}, {'connected_gene': 'GC09P038326', 'score': 0.44}, {'connected_gene': 'GC09P038327', 'score': 0.44}, {'connected_gene': 'GC09P038331', 'score': 0.44}, {'connected_gene': 'GC09P038309', 'score': 0.39}]
chr9 GH09I037382 37382103 37382781 1.03 [{'connected_gene': 'TRMT10B', 'score': 12.03}, {'connected_gene': 'ZBTB5', 'score': 10.61}, {'connected_gene': 'LINC01627', 'score': 0.39}, {'connected_gene': 'LOC105376035', 'score': 0.37}]
chr9 GH09I037729 37729801 37730000 0.43 [{'connected_gene': 'TRMT10B', 'score': 0.34}, {'connected_gene': 'GC09M037661', 'score': 0.2}, {'connected_gene': 'RN7SKP171', 'score': 0.2}, {'connected_gene': 'FRMPD1', 'score': 0.13}, {'connected_gene': 'ENSG00000255872', 'score': 0.05}]
chr9 GH09I037747 37747048 37747872 0.93 [{'connected_gene': 'TRMT10B', 'score': 0.44}, {'connected_gene': 'GC09M037661', 'score': 0.17}, {'connected_gene': 'RN7SKP171', 'score': 0.17}, {'connected_gene': 'ENSG00000255872', 'score': 0.05}]
chr9 GH09I037753 37753184 37754703 1.93 [{'connected_gene': 'TRMT10B', 'score': 565.4}, {'connected_gene': 'TMX2P1', 'score': 24.65}, {'connected_gene': 'SLC25A51', 'score': 13.1}, {'connected_gene': 'ZCCHC7', 'score': 13.02}, {'connected_gene': 'POLR1E', 'score': 11.34}, {'connected_gene': 'DCAF10', 'score': 10.86}, {'connected_gene': 'ZBTB5', 'score': 10.51}, {'connected_gene': 'EXOSC3', 'score': 10.31}, {'connected_gene': 'GC09M037773', 'score': 0.37}, {'connected_gene': 'ENSG00000255872', 'score': 0.06}]
chr9 GH09I037323 37323017 37326162 1.58 [{'connected_gene': 'GC09P037324', 'score': 550.77}, {'connected_gene': 'PAX5', 'score': 36.67}, {'connected_gene': 'TRMT10B', 'score': 14.08}, {'connected_gene': 'ZBTB5', 'score': 3.66}, {'connected_gene': 'ZCCHC7', 'score': 3.07}, {'connected_gene': 'FBXO10', 'score': 1.84}, {'connected_gene': 'RNU6-677P', 'score': 0.44}]
chr9 GH09I037773 37773122 37773293 0.3 [{'connected_gene': 'GC09M037773', 'score': 550.77}, {'connected_gene': 'TRMT10B', 'score': 13.27}, {'connected_gene': 'SLC25A51', 'score': 13.13}, {'connected_gene': 'ALDH1B1', 'score': 9.41}, {'connected_gene': 'FRMPD1', 'score': 3.48}, {'connected_gene': 'PIR39153', 'score': 0.77}, {'connected_gene': 'EXOSC3', 'score': 0.31}, {'connected_gene': 'ENSG00000255872', 'score': 0.06}]
chr9 GH09I038170 38170182 38173223 1.38 [{'connected_gene': 'ENSG00000200026', 'score': 11.78}, {'connected_gene': 'TRMT10B', 'score': 10.79}, {'connected_gene': 'PIR59956', 'score': 0.44}, {'connected_gene': 'PIR60591', 'score': 0.39}]
chr9 GH09I037079 37079024 37081308 1.56 [{'connected_gene': 'ENSG00000260100', 'score': 550.77}, {'connected_gene': 'EBLN3P', 'score': 550.77}, {'connected_gene': 'ZCCHC7', 'score': 16.52}, {'connected_gene': 'EXOSC3', 'score': 13.68}, {'connected_gene': 'TRMT10B', 'score': 13.12}, {'connected_gene': 'HMGB3P24', 'score': 11.46}, {'connected_gene': 'DCAF10', 'score': 10.65}, {'connected_gene': 'LOC105376034', 'score': 0.28}]

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