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
ENST00000392693 [[125825690, 125831000], [125831549, 125831893], [125848198, 125848278], [125850943, 125851224], [125853766, 125853988], [125859531, 125859654], [125864178, 125864284], [125864765, 125864947], [125867101, 125867305], [125871613, 125871745], [125873796, 125873971], [125875653, 125875952], [125880235, 125880589], [125885135, 125885405], [125886982, 125887270], [125888224, 125888368], [125889513, 125889660], [125891142, 125891415], [125893295, 125893432], [125933120, 125933187]] [[125830836, 125831000], [125831549, 125831893], [125848198, 125848278], [125850943, 125851224], [125853766, 125853988], [125859531, 125859654], [125864178, 125864284], [125864765, 125864947], [125867101, 125867305], [125871613, 125871745], [125873796, 125873971], [125875653, 125875952], [125880235, 125880589], [125885135, 125885405], [125886982, 125887270], [125888224, 125888368], [125889513, 125889660], [125891142, 125891415], [125893295, 125893371]]
ENST00000531738 [[125827346, 125831000], [125831618, 125831893], [125848198, 125848278], [125850943, 125851224], [125853766, 125853988], [125859531, 125859654], [125864178, 125864284], [125864765, 125864947], [125867101, 125867305], [125871613, 125871745], [125873796, 125874340]] [[125830836, 125831000], [125831618, 125831893], [125848198, 125848278], [125850943, 125851224], [125853766, 125853988], [125859531, 125859654], [125864178, 125864284], [125864765, 125864947], [125867101, 125867305], [125871613, 125871745], [125873796, 125873953]]
ENST00000263577 [[125830573, 125831000], [125831618, 125831893], [125848198, 125848278], [125850943, 125851224], [125853766, 125853988], [125859531, 125859654], [125864178, 125864284], [125864765, 125864947], [125867101, 125867305], [125871613, 125871745], [125873796, 125873971], [125875653, 125875952], [125880235, 125880589], [125885135, 125885405], [125886982, 125887270], [125888224, 125888368], [125889513, 125889660], [125891142, 125891415], [125893295, 125893432], [125933120, 125933187]] [[125830836, 125831000], [125831618, 125831893], [125848198, 125848278], [125850943, 125851224], [125853766, 125853988], [125859531, 125859654], [125864178, 125864284], [125864765, 125864947], [125867101, 125867305], [125871613, 125871745], [125873796, 125873971], [125875653, 125875952], [125880235, 125880589], [125885135, 125885405], [125886982, 125887270], [125888224, 125888368], [125889513, 125889660], [125891142, 125891415], [125893295, 125893371]]
ENST00000534661 [[125873800, 125873971], [125875653, 125875952], [125880235, 125880589], [125885135, 125885405], [125886982, 125887270], [125888224, 125888368], [125889513, 125889660], [125891142, 125891417]] [[125873800, 125873971], [125875653, 125875952], [125880235, 125880589], [125885135, 125885405], [125886982, 125887270], [125888224, 125888368], [125889513, 125889660], [125891142, 125891417]]
ENST00000531830 [[125875287, 125875569], [125875653, 125875952], [125880235, 125880589], [125880705, 125880813], [125885135, 125885405], [125886982, 125887270], [125888224, 125888368]] [[125880784, 125880813], [125885135, 125885405], [125886982, 125887270], [125888224, 125888368]]
ENST00000525625 [[125884712, 125885405], [125886982, 125887270], [125888224, 125888368], [125889513, 125889660], [125891142, 125891415], [125893295, 125893434]] None
ENST00000531586 [[125889513, 125889660], [125891142, 125891415], [125893295, 125893432], [125933120, 125933187]] [[125889513, 125889660], [125891142, 125891415], [125893295, 125893371]]
ENST00000527967 [[125889581, 125889660], [125891142, 125891415], [125893295, 125893432], [125932473, 125932706]] [[125889581, 125889660], [125891142, 125891415], [125893295, 125893371]]
ENST00000534818 [[125891157, 125891415], [125893295, 125893432], [125933166, 125933230]] [[125891157, 125891415], [125893295, 125893371]]
NM_001243597 [[125826712, 125831000], [125831549, 125831893], [125848198, 125848278], [125850943, 125851224], [125853766, 125853988], [125859531, 125859654], [125864178, 125864284], [125864765, 125864947], [125867101, 125867305], [125871613, 125871745], [125873796, 125873971], [125875653, 125875952], [125880235, 125880589], [125885135, 125885405], [125886982, 125887270], [125888224, 125888368], [125889513, 125889660], [125891142, 125891415], [125893295, 125893432], [125933120, 125933187]] [[125830836, 125831000], [125831549, 125831893], [125848198, 125848278], [125850943, 125851224], [125853766, 125853988], [125859531, 125859654], [125864178, 125864284], [125864765, 125864947], [125867101, 125867305], [125871613, 125871745], [125873796, 125873971], [125875653, 125875952], [125880235, 125880589], [125885135, 125885405], [125886982, 125887270], [125888224, 125888368], [125889513, 125889660], [125891142, 125891415], [125893295, 125893371]]
NM_016952 [[125826712, 125831000], [125831618, 125831893], [125848198, 125848278], [125850943, 125851224], [125853766, 125853988], [125859531, 125859654], [125864178, 125864284], [125864765, 125864947], [125867101, 125867305], [125871613, 125871745], [125873796, 125873971], [125875653, 125875952], [125880235, 125880589], [125885135, 125885405], [125886982, 125887270], [125888224, 125888368], [125889513, 125889660], [125891142, 125891415], [125893295, 125893432], [125933120, 125933187]] [[125830836, 125831000], [125831618, 125831893], [125848198, 125848278], [125850943, 125851224], [125853766, 125853988], [125859531, 125859654], [125864178, 125864284], [125864765, 125864947], [125867101, 125867305], [125871613, 125871745], [125873796, 125873971], [125875653, 125875952], [125880235, 125880589], [125885135, 125885405], [125886982, 125887270], [125888224, 125888368], [125889513, 125889660], [125891142, 125891415], [125893295, 125893371]]
Promoter
Chrom Start End Description
chr11 125932685 125932768 CAGE_peak_1_at_CDON_5end
chr11 125932870 125932883 CAGE_peak_2_at_CDON_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I125273 125273825 125273974 1.01 [{'connected_gene': 'MSANTD2', 'score': 20.61}, {'connected_gene': 'TMEM218', 'score': 14.73}, {'connected_gene': 'ENSG00000254509', 'score': 14.19}, {'connected_gene': 'ENSG00000254694', 'score': 12.23}, {'connected_gene': 'STT3A', 'score': 11.71}, {'connected_gene': 'CDON', 'score': 9.98}, {'connected_gene': 'GC11M125262', 'score': 0.77}, {'connected_gene': 'RNU6-321P', 'score': 0.77}, {'connected_gene': 'PKNOX2', 'score': 0.14}]
chr11 GH11I126210 126210529 126213526 2.02 [{'connected_gene': 'FAM118B', 'score': 570.85}, {'connected_gene': 'RPUSD4', 'score': 550.77}, {'connected_gene': 'FOXRED1', 'score': 70.67}, {'connected_gene': 'ENSG00000254694', 'score': 12.97}, {'connected_gene': 'STT3A', 'score': 11.68}, {'connected_gene': 'SRPRA', 'score': 10.76}, {'connected_gene': 'CDON', 'score': 10.06}, {'connected_gene': 'RNU4-86P', 'score': 0.77}]
chr11 GH11I126034 126034270 126035628 0.43 [{'connected_gene': 'CDON', 'score': 11.69}, {'connected_gene': 'PUS3', 'score': 9.56}, {'connected_gene': 'DDX25', 'score': 9.56}, {'connected_gene': 'PIR48177', 'score': 0.34}]
chr11 GH11I126029 126029735 126030644 0.54 [{'connected_gene': 'CDON', 'score': 11.67}, {'connected_gene': 'PUS3', 'score': 9.57}, {'connected_gene': 'DDX25', 'score': 9.57}, {'connected_gene': 'PIR48177', 'score': 0.37}]
chr11 GH11I126092 126092289 126092645 0.66 [{'connected_gene': 'CDON', 'score': 11.63}, {'connected_gene': 'ENSG00000261257', 'score': 0.44}, {'connected_gene': 'NAP1L1P1', 'score': 0.34}]
chr11 GH11I126091 126091986 126092175 0.76 [{'connected_gene': 'CDON', 'score': 11.63}, {'connected_gene': 'ENSG00000261257', 'score': 0.39}, {'connected_gene': 'NAP1L1P1', 'score': 0.34}]
chr11 GH11I126109 126109620 126116936 1.72 [{'connected_gene': 'CDON', 'score': 2.07}, {'connected_gene': 'ST3GAL4', 'score': 1.41}, {'connected_gene': 'ENSG00000261257', 'score': 0.39}, {'connected_gene': 'LOC105369591', 'score': 0.31}]
chr11 GH11I126118 126118216 126120035 0.2 [{'connected_gene': 'CDON', 'score': 11.03}, {'connected_gene': 'ENSG00000254790', 'score': 10.54}, {'connected_gene': 'FOXRED1', 'score': 4.87}, {'connected_gene': 'ENSG00000261257', 'score': 0.37}, {'connected_gene': 'LOC105369591', 'score': 0.34}]
chr11 GH11I126060 126060635 126064105 2.24 [{'connected_gene': 'CDON', 'score': 556.09}, {'connected_gene': 'TIRAP', 'score': 27.29}, {'connected_gene': 'STT3A', 'score': 25.54}, {'connected_gene': 'TMEM218', 'score': 25.1}, {'connected_gene': 'FEZ1', 'score': 11.29}, {'connected_gene': 'SRPRA', 'score': 10.12}, {'connected_gene': 'PIR48177', 'score': 0.23}]
chr11 GH11I126131 126131237 126133174 1.37 [{'connected_gene': 'CDON', 'score': 1.69}, {'connected_gene': 'LOC105369591', 'score': 0.44}, {'connected_gene': 'ENSG00000261257', 'score': 0.31}]
chr11 GH11I126057 126057160 126060423 0.99 [{'connected_gene': 'CDON', 'score': 0.77}, {'connected_gene': 'PIR48177', 'score': 0.25}]
chr11 GH11I126028 126028292 126028331 0.22 [{'connected_gene': 'CDON', 'score': 1.97}, {'connected_gene': 'PIR48177', 'score': 0.37}]
chr11 GH11I125591 125591163 125594304 2.08 [{'connected_gene': 'STT3A', 'score': 562.43}, {'connected_gene': 'STT3A-AS1', 'score': 550.77}, {'connected_gene': 'HP11014', 'score': 38.61}, {'connected_gene': 'TMEM218', 'score': 22.92}, {'connected_gene': 'CHEK1', 'score': 22.75}, {'connected_gene': 'MSANTD2', 'score': 20.59}, {'connected_gene': 'ENSG00000254509', 'score': 14.18}, {'connected_gene': 'TIRAP', 'score': 12.38}, {'connected_gene': 'ENSG00000254694', 'score': 12.23}, {'connected_gene': 'EI24', 'score': 11.93}, {'connected_gene': 'CDON', 'score': 10.0}, {'connected_gene': 'DDX25', 'score': 7.52}, {'connected_gene': 'FEZ1', 'score': 5.59}, {'connected_gene': 'PUS3', 'score': 4.47}]
chr11 GH11I125213 125213494 125216872 0.63 [{'connected_gene': 'RNU6-321P', 'score': 11.12}, {'connected_gene': 'LOC105369549', 'score': 10.94}, {'connected_gene': 'ENSG00000255475', 'score': 10.25}, {'connected_gene': 'CDON', 'score': 4.45}, {'connected_gene': 'GC11P125222', 'score': 0.44}, {'connected_gene': 'GC11M125208', 'score': 0.39}, {'connected_gene': 'GC11P125189', 'score': 0.31}, {'connected_gene': 'PKNOX2', 'score': 0.23}]
chr11 GH11I126135 126135906 126141726 1.08 [{'connected_gene': 'LOC105369591', 'score': 550.77}, {'connected_gene': 'CDON', 'score': 6.12}, {'connected_gene': 'FAM118B', 'score': 6.09}, {'connected_gene': 'FOXRED1', 'score': 5.23}, {'connected_gene': 'SRPRA', 'score': 4.46}, {'connected_gene': 'GC11M126140', 'score': 0.44}, {'connected_gene': 'ENSG00000261257', 'score': 0.28}]
chr11 GH11I125941 125941235 125942696 0.69 [{'connected_gene': 'ENSG00000254790', 'score': 550.77}, {'connected_gene': 'EI24', 'score': 6.18}, {'connected_gene': 'CDON', 'score': 5.07}, {'connected_gene': 'VSIG10L2', 'score': 0.77}, {'connected_gene': 'DDX25', 'score': 0.28}]
chr11 GH11I125267 125267847 125273729 1 [{'connected_gene': 'GC11M125262', 'score': 550.77}, {'connected_gene': 'MSANTD2', 'score': 20.61}, {'connected_gene': 'TMEM218', 'score': 14.74}, {'connected_gene': 'ENSG00000254509', 'score': 14.2}, {'connected_gene': 'ENSG00000254694', 'score': 12.23}, {'connected_gene': 'STT3A', 'score': 11.71}, {'connected_gene': 'CDON', 'score': 9.98}, {'connected_gene': 'RNU6-321P', 'score': 0.44}, {'connected_gene': 'PKNOX2', 'score': 0.14}]
chr11 GH11I125223 125223205 125225325 0.38 [{'connected_gene': 'GC11P125222', 'score': 550.77}, {'connected_gene': 'CDON', 'score': 4.86}, {'connected_gene': 'GC11M125208', 'score': 0.77}, {'connected_gene': 'PKNOX2', 'score': 0.22}]
chr11 GH11I126153 126152896 126155377 1.11 [{'connected_gene': 'ENSG00000254694', 'score': 24.91}, {'connected_gene': 'CDON', 'score': 22.48}, {'connected_gene': 'FOXRED1', 'score': 5.6}, {'connected_gene': 'ENSG00000254833', 'score': 0.44}, {'connected_gene': 'GC11M126140', 'score': 0.44}]
chr11 GH11I125956 125956107 125957307 0.38 [{'connected_gene': 'ENSG00000283866', 'score': 550.77}, {'connected_gene': 'CDON', 'score': 5.27}, {'connected_gene': 'VSIG10L2', 'score': 0.39}]
chr11 GH11I126122 126122529 126124907 0.89 [{'connected_gene': 'ENSG00000254833', 'score': 11.18}, {'connected_gene': 'CDON', 'score': 11.02}, {'connected_gene': 'ENSG00000254790', 'score': 10.53}, {'connected_gene': 'LOC105369591', 'score': 0.37}, {'connected_gene': 'ENSG00000261257', 'score': 0.34}]
chr11 GH11I125963 125963841 125964942 0.2 [{'connected_gene': 'GC11M125957', 'score': 0.77}, {'connected_gene': 'PIR48177', 'score': 0.25}, {'connected_gene': 'CDON', 'score': 0.15}]
chr11 GH11I125986 125986845 125987995 0.71 [{'connected_gene': 'ENSG00000254833', 'score': 10.44}, {'connected_gene': 'PIR48177', 'score': 0.34}, {'connected_gene': 'GC11M125957', 'score': 0.31}, {'connected_gene': 'CDON', 'score': 0.18}]
chr11 GH11I125968 125968406 125968555 0.76 [{'connected_gene': 'GC11M125957', 'score': 0.44}, {'connected_gene': 'PIR48177', 'score': 0.26}, {'connected_gene': 'CDON', 'score': 0.16}]
chr11 GH11I125972 125972228 125972895 0.2 [{'connected_gene': 'ENSG00000254790', 'score': 11.48}, {'connected_gene': 'GC11M125957', 'score': 0.39}, {'connected_gene': 'PIR48177', 'score': 0.28}, {'connected_gene': 'CDON', 'score': 0.16}]
chr11 GH11I125958 125958230 125959644 0.31 [{'connected_gene': 'ENSG00000283866', 'score': 550.77}, {'connected_gene': 'GC11M125957', 'score': 550.77}, {'connected_gene': 'CDON', 'score': 0.15}]
chr11 GH11I125969 125968586 125968735 0.76 [{'connected_gene': 'GC11M125957', 'score': 0.44}, {'connected_gene': 'PIR48177', 'score': 0.26}, {'connected_gene': 'CDON', 'score': 0.16}]
chr11 GH11I125979 125979166 125979315 0.46 [{'connected_gene': 'ENSG00000254790', 'score': 11.22}, {'connected_gene': 'GC11M125957', 'score': 0.37}, {'connected_gene': 'PIR48177', 'score': 0.29}, {'connected_gene': 'CDON', 'score': 0.18}]

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