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
ENST00000295633 [[120111139, 120115843], [120118729, 120118806], [120121654, 120121765], [120122088, 120122201], [120123699, 120123818], [120128378, 120128509], [120129798, 120129831], [120130700, 120130830], [120134769, 120134874], [120169530, 120169593], [120169743, 120170100]] [[120115798, 120115843], [120118729, 120118806], [120121654, 120121765], [120122088, 120122201], [120123699, 120123818], [120128378, 120128509], [120129798, 120129831], [120130700, 120130830], [120134769, 120134874], [120169530, 120169593]]
ENST00000480823 [[120115069, 120115820], [120122088, 120122144]] [[120115815, 120115820], [120122088, 120122144]]
ENST00000424703 [[120115319, 120115843], [120118729, 120118806], [120121654, 120121765], [120122088, 120122201], [120123699, 120123818], [120128378, 120128509], [120129798, 120129831], [120130700, 120130830], [120169530, 120169593], [120169743, 120169838]] [[120115798, 120115843], [120118729, 120118806], [120121654, 120121765], [120122088, 120122201], [120123699, 120123818], [120128378, 120128509], [120129798, 120129831], [120130700, 120130830], [120169530, 120169593]]
ENST00000488318 [[120115737, 120115843], [120118729, 120118936]] None
ENST00000468098 [[120123741, 120123818], [120128378, 120128509], [120129798, 120130173]] None
ENST00000469005 [[120128421, 120128509], [120129798, 120129831], [120130700, 120130830], [120134769, 120134874], [120169530, 120169644], [120169743, 120169838]] [[120128421, 120128509], [120129798, 120129831], [120130700, 120130830], [120134769, 120134874], [120169530, 120169593]]
ENST00000464690 [[120128803, 120129831], [120130700, 120130830], [120134769, 120134874], [120169530, 120169593], [120169743, 120169840]] None
ENST00000472536 [[120140018, 120140399], [120169530, 120169593], [120169743, 120169839]] None
ENST00000485968 [[120142373, 120142923], [120169530, 120169593], [120169743, 120169807]] None
ENST00000467994 [[120157107, 120157305], [120160114, 120160251], [120169530, 120169593], [120169743, 120169827]] None
NM_007085 [[120113060, 120115843], [120118729, 120118806], [120121654, 120121765], [120122088, 120122201], [120123699, 120123818], [120128378, 120128509], [120129798, 120129831], [120130700, 120130830], [120134769, 120134874], [120169530, 120169593], [120169743, 120169918]] [[120115798, 120115843], [120118729, 120118806], [120121654, 120121765], [120122088, 120122201], [120123699, 120123818], [120128378, 120128509], [120129798, 120129831], [120130700, 120130830], [120134769, 120134874], [120169530, 120169593]]
Promoter
Chrom Start End Description
chr3 120113800 120113812 CAGE_peak_14_at_FSTL1_5end
chr3 120114219 120114235 CAGE_peak_2_at_FSTL1_5end
chr3 120115113 120115129 CAGE_peak_5_at_FSTL1_5end
chr3 120115138 120115175 CAGE_peak_9_at_FSTL1_5end
chr3 120115192 120115245 CAGE_peak_3_at_FSTL1_5end
chr3 120118781 120118794 CAGE_peak_13_at_FSTL1_5end
chr3 120122172 120122207 CAGE_peak_11_at_FSTL1_5end
chr3 120169828 120169850 CAGE_peak_1_at_FSTL1_5end
chr3 120170052 120170090 CAGE_peak_4_at_FSTL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I119468 119468013 119470237 2.01 [{'connected_gene': 'POGLUT1', 'score': 591.92}, {'connected_gene': 'TMEM39A', 'score': 561.68}, {'connected_gene': 'RPS26P21', 'score': 14.74}, {'connected_gene': 'B4GALT4', 'score': 11.11}, {'connected_gene': 'CD80', 'score': 10.83}, {'connected_gene': 'FSTL1', 'score': 10.7}, {'connected_gene': 'TIMMDC1', 'score': 4.57}, {'connected_gene': 'ENSG00000272662', 'score': 0.31}]
chr3 GH03I120402 120402505 120403616 0.2 [{'connected_gene': 'MIR198', 'score': 0.44}, {'connected_gene': 'FSTL1', 'score': 0.25}, {'connected_gene': 'LOC100130701', 'score': 0.23}]
chr3 GH03I120409 120409280 120411543 0.51 [{'connected_gene': 'GPR156', 'score': 6.84}, {'connected_gene': 'MIR198', 'score': 0.39}, {'connected_gene': 'FSTL1', 'score': 0.26}, {'connected_gene': 'LOC100130701', 'score': 0.21}]
chr3 GH03I120404 120404400 120406975 0.2 [{'connected_gene': 'GPR156', 'score': 6.38}, {'connected_gene': 'LRRC58', 'score': 4.69}, {'connected_gene': 'MIR198', 'score': 0.44}, {'connected_gene': 'FSTL1', 'score': 0.25}, {'connected_gene': 'LOC100130701', 'score': 0.22}]
chr3 GH03I120416 120416037 120422714 1.36 [{'connected_gene': 'GPR156', 'score': 23.96}, {'connected_gene': 'FSTL1', 'score': 13.26}, {'connected_gene': 'LOC100130701', 'score': 7.58}, {'connected_gene': 'LRRC58', 'score': 6.29}, {'connected_gene': 'MIR198', 'score': 0.34}]
chr3 GH03I120412 120412681 120413840 0.2 [{'connected_gene': 'LRRC58', 'score': 6.25}, {'connected_gene': 'GPR156', 'score': 5.16}, {'connected_gene': 'MIR198', 'score': 0.37}, {'connected_gene': 'FSTL1', 'score': 0.28}, {'connected_gene': 'LOC100130701', 'score': 0.21}]
chr3 GH03I120467 120467938 120474121 1.15 [{'connected_gene': 'LRRC58', 'score': 9.81}, {'connected_gene': 'RPL34P9', 'score': 6.1}, {'connected_gene': 'ADPRH', 'score': 5.64}, {'connected_gene': 'ENSG00000240774', 'score': 0.39}, {'connected_gene': 'FSTL1', 'score': 0.37}]
chr3 GH03I120401 120401668 120402026 0.22 [{'connected_gene': 'FSTL1', 'score': 1.98}, {'connected_gene': 'MIR198', 'score': 0.44}, {'connected_gene': 'LOC100130701', 'score': 0.23}]
chr3 GH03I120445 120445537 120446850 0.38 [{'connected_gene': 'FSTL1', 'score': 0.44}, {'connected_gene': 'MIR198', 'score': 0.23}]
chr3 GH03I120443 120443080 120443948 0.38 [{'connected_gene': 'FSTL1', 'score': 0.44}, {'connected_gene': 'MIR198', 'score': 0.25}]
chr3 GH03I120431 120431199 120441185 1.04 [{'connected_gene': 'FSTL1', 'score': 4.75}, {'connected_gene': 'MIR198', 'score': 0.26}]
chr3 GH03I120507 120507001 120507599 0.69 [{'connected_gene': 'FSTL1', 'score': 11.62}, {'connected_gene': 'GPR156', 'score': 9.99}, {'connected_gene': 'RPL34P9', 'score': 4.88}, {'connected_gene': 'ENSG00000240774', 'score': 0.34}]
chr3 GH03I120503 120503746 120504805 0.38 [{'connected_gene': 'FSTL1', 'score': 12.29}, {'connected_gene': 'GPR156', 'score': 10.0}, {'connected_gene': 'RPL34P9', 'score': 0.44}, {'connected_gene': 'ENSG00000240774', 'score': 0.37}]
chr3 GH03I120422 120422912 120428399 0.86 [{'connected_gene': 'FSTL1', 'score': 12.96}, {'connected_gene': 'GPR156', 'score': 12.14}, {'connected_gene': 'LOC100130701', 'score': 7.46}, {'connected_gene': 'LRRC58', 'score': 4.71}, {'connected_gene': 'GSK3B', 'score': 4.42}, {'connected_gene': 'ADPRH', 'score': 4.13}, {'connected_gene': 'MIR198', 'score': 0.31}]
chr3 GH03I120446 120446993 120452271 2.07 [{'connected_gene': 'FSTL1', 'score': 555.22}, {'connected_gene': 'RPL34P9', 'score': 4.53}, {'connected_gene': 'MIR198', 'score': 0.23}]
chr3 GH03I120459 120459334 120459483 0.4 [{'connected_gene': 'FSTL1', 'score': 0.44}, {'connected_gene': 'ENSG00000240774', 'score': 0.31}]
chr3 GH03I120461 120461422 120462994 0.46 [{'connected_gene': 'FSTL1', 'score': 0.39}, {'connected_gene': 'ENSG00000240774', 'score': 0.34}]
chr3 GH03I120428 120428737 120431104 0.51 [{'connected_gene': 'LOC100130701', 'score': 6.41}, {'connected_gene': 'GPR156', 'score': 5.52}, {'connected_gene': 'FSTL1', 'score': 0.34}, {'connected_gene': 'MIR198', 'score': 0.29}]
chr3 GH03I120474 120474354 120474643 0.4 [{'connected_gene': 'ENSG00000240774', 'score': 0.39}, {'connected_gene': 'FSTL1', 'score': 0.34}]

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