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
ENST00000165698 [[86441115, 86444233], [86459747, 86459925], [86479079, 86479193], [86481816, 86481937], [86491087, 86491164], [86509292, 86509365], [86564601, 86564777]] [[86444222, 86444233], [86459747, 86459925], [86479079, 86479193], [86481816, 86481937], [86491087, 86491164], [86509292, 86509365], [86564601, 86564633]]
ENST00000535845 [[86441121, 86444233], [86459747, 86459925], [86479079, 86479193], [86481816, 86481937], [86491087, 86491164], [86564601, 86564777]] [[86444222, 86444233], [86459747, 86459925], [86479079, 86479193], [86481816, 86481937], [86491087, 86491164], [86564601, 86564625]]
ENST00000541910 [[86441121, 86444233], [86459747, 86459925], [86491087, 86491164], [86509292, 86509365], [86564601, 86564777]] [[86444161, 86444233], [86459747, 86459925], [86491087, 86491164], [86509292, 86509365], [86564601, 86564633]]
ENST00000538924 [[86441121, 86444233], [86459747, 86459925], [86479079, 86479193], [86481816, 86481937], [86491087, 86491164], [86509292, 86509365], [86565146, 86565206]] [[86444222, 86444233], [86459747, 86459925], [86479079, 86479193], [86481816, 86481937], [86491087, 86491164], [86509292, 86509365], [86565146, 86565199]]
ENST00000540790 [[86444086, 86444233], [86459747, 86459925], [86479079, 86479193], [86481816, 86481937], [86491087, 86491164], [86507143, 86507276], [86509292, 86509365], [86564601, 86564749]] [[86444222, 86444233], [86459747, 86459925], [86479079, 86479193], [86481816, 86481937], [86491087, 86491164], [86507143, 86507185]]
ENST00000437769 [[86459746, 86459925], [86491087, 86491164], [86509292, 86509365], [86564601, 86564712]] [[86459746, 86459925], [86491087, 86491164], [86509292, 86509365], [86564601, 86564633]]
ENST00000453231 [[86459792, 86459925], [86479079, 86479193], [86481816, 86481937], [86491087, 86491164], [86509292, 86509365], [86565146, 86565206]] [[86459792, 86459925], [86479079, 86479193], [86481816, 86481937], [86491087, 86491164], [86509292, 86509365], [86565146, 86565199]]
ENST00000428491 [[86459840, 86459925], [86479079, 86479193], [86481816, 86481937], [86491087, 86491164], [86564601, 86564750]] [[86459840, 86459925], [86479079, 86479193], [86481816, 86481937], [86491087, 86491164], [86564601, 86564625]]
ENST00000473407 [[86459856, 86459925], [86479079, 86479193], [86481816, 86481937], [86491087, 86491164], [86509292, 86509365], [86564470, 86564592]] None
ENST00000489855 [[86478474, 86479193], [86481816, 86481937], [86491087, 86491164], [86509292, 86509333]] [[86478989, 86479193], [86481816, 86481937], [86491087, 86491164], [86509292, 86509333]]
ENST00000475475 [[86491116, 86491164], [86509292, 86509365], [86563844, 86564188]] None
ENST00000490915 [[86459798, 86459925], [86479079, 86479193], [86481816, 86482141]] None
NM_022912 [[86441115, 86444233], [86459747, 86459925], [86479079, 86479193], [86481816, 86481937], [86491087, 86491164], [86509292, 86509365], [86564601, 86564777]] [[86444222, 86444233], [86459747, 86459925], [86479079, 86479193], [86481816, 86481937], [86491087, 86491164], [86509292, 86509365], [86564601, 86564633]]
NM_001164732 [[86441115, 86444233], [86459747, 86459925], [86491087, 86491164], [86509292, 86509365], [86564601, 86564777]] [[86444161, 86444233], [86459747, 86459925], [86491087, 86491164], [86509292, 86509365], [86564601, 86564633]]
NM_001164731 [[86441115, 86444233], [86459747, 86459925], [86479079, 86479193], [86481816, 86481937], [86491087, 86491164], [86564601, 86564777]] [[86444222, 86444233], [86459747, 86459925], [86479079, 86479193], [86481816, 86481937], [86491087, 86491164], [86564601, 86564625]]
NM_001164730 [[86441115, 86444233], [86459747, 86459925], [86479079, 86479193], [86481816, 86481937], [86491087, 86491164], [86509292, 86509365], [86565146, 86565206]] [[86444222, 86444233], [86459747, 86459925], [86479079, 86479193], [86481816, 86481937], [86491087, 86491164], [86509292, 86509365], [86565146, 86565199]]
Promoter
Chrom Start End Description
chr2 86564696 86564728 CAGE_peak_3_at_REEP1_5end
chr2 86564740 86564756 CAGE_peak_2_at_REEP1_5end
chr2 86564776 86564813 CAGE_peak_1_at_REEP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I086805 86805212 86810495 2.51 [{'connected_gene': 'CD8A', 'score': 584.78}, {'connected_gene': 'CD8B', 'score': 18.85}, {'connected_gene': 'SNORD94', 'score': 9.83}, {'connected_gene': 'CHMP3', 'score': 9.68}, {'connected_gene': 'RNU6-640P', 'score': 9.68}, {'connected_gene': 'REEP1', 'score': 5.72}, {'connected_gene': 'PLGLB1', 'score': 4.07}, {'connected_gene': 'LOC105374846', 'score': 0.39}]
chr2 GH02I086783 86783119 86795755 1.98 [{'connected_gene': 'CD8A', 'score': 591.87}, {'connected_gene': 'CD8B', 'score': 21.15}, {'connected_gene': 'CHMP3', 'score': 20.0}, {'connected_gene': 'RNU6-640P', 'score': 10.07}, {'connected_gene': 'REEP1', 'score': 6.93}, {'connected_gene': 'ENSG00000231259', 'score': 6.74}, {'connected_gene': 'RMND5A', 'score': 4.65}, {'connected_gene': 'KDM3A', 'score': 2.11}, {'connected_gene': 'RNF103', 'score': 1.51}, {'connected_gene': 'LOC105374846', 'score': 0.44}, {'connected_gene': 'GC02M086689', 'score': 0.23}]
chr2 GH02I085871 85871369 85875023 0.59 [{'connected_gene': 'ATOH8', 'score': 10.92}, {'connected_gene': 'RNU1-38P', 'score': 10.79}, {'connected_gene': 'POLR1A', 'score': 8.64}, {'connected_gene': 'MRPL35', 'score': 5.61}, {'connected_gene': 'ENSG00000272564', 'score': 5.03}, {'connected_gene': 'IMMT', 'score': 4.86}, {'connected_gene': 'LOC284950', 'score': 4.68}, {'connected_gene': 'REEP1', 'score': 4.38}, {'connected_gene': 'GC02M085870', 'score': 0.77}, {'connected_gene': 'GC02M085871', 'score': 0.77}, {'connected_gene': 'GC02P085883', 'score': 0.44}, {'connected_gene': 'ST3GAL5', 'score': 0.29}]
chr2 GH02I085875 85875401 85876400 0.67 [{'connected_gene': 'REEP1', 'score': 4.37}, {'connected_gene': 'GC02M085870', 'score': 0.44}, {'connected_gene': 'GC02M085871', 'score': 0.44}, {'connected_gene': 'GC02P085883', 'score': 0.44}, {'connected_gene': 'ST3GAL5', 'score': 0.31}]
chr2 GH02I086392 86392914 86394514 0.96 [{'connected_gene': 'REEP1', 'score': 18.44}, {'connected_gene': 'ENSG00000251974', 'score': 11.78}, {'connected_gene': 'KDM3A', 'score': 10.63}, {'connected_gene': 'ENSG00000202537', 'score': 10.49}, {'connected_gene': 'RNU6-640P', 'score': 9.63}, {'connected_gene': 'CHMP3', 'score': 9.61}, {'connected_gene': 'POLR1A', 'score': 7.9}, {'connected_gene': 'MRPL35', 'score': 5.95}, {'connected_gene': 'GC02P086411', 'score': 0.37}]
chr2 GH02I086356 86356784 86358378 0.46 [{'connected_gene': 'REEP1', 'score': 13.16}, {'connected_gene': 'MRPL35', 'score': 7.08}, {'connected_gene': 'IMMT', 'score': 4.45}, {'connected_gene': 'ENSG00000251974', 'score': 0.44}, {'connected_gene': 'ENSG00000202537', 'score': 0.39}, {'connected_gene': 'GC02M086348', 'score': 0.39}]
chr2 GH02I086244 86244078 86244227 0.74 [{'connected_gene': 'REEP1', 'score': 11.63}, {'connected_gene': 'ENSG00000202537', 'score': 10.97}, {'connected_gene': 'MRPL35', 'score': 10.88}, {'connected_gene': 'IMMT', 'score': 10.86}, {'connected_gene': 'GC02M086172', 'score': 0.34}, {'connected_gene': 'GC02M086283', 'score': 0.23}]
chr2 GH02I086351 86351819 86353552 0.38 [{'connected_gene': 'REEP1', 'score': 19.33}, {'connected_gene': 'MRPL35', 'score': 5.16}, {'connected_gene': 'ENSG00000202537', 'score': 0.44}, {'connected_gene': 'GC02M086348', 'score': 0.44}, {'connected_gene': 'ENSG00000251974', 'score': 0.39}]
chr2 GH02I086335 86335618 86337801 1.99 [{'connected_gene': 'REEP1', 'score': 561.66}, {'connected_gene': 'POLR1A', 'score': 5.7}, {'connected_gene': 'MRPL35', 'score': 5.36}, {'connected_gene': 'IMMT', 'score': 5.16}, {'connected_gene': 'GC02M086309', 'score': 0.34}]
chr2 GH02I086245 86245298 86245547 0.43 [{'connected_gene': 'REEP1', 'score': 11.63}, {'connected_gene': 'ENSG00000202537', 'score': 10.97}, {'connected_gene': 'IMMT', 'score': 10.86}, {'connected_gene': 'MRPL35', 'score': 10.86}, {'connected_gene': 'ENSG00000273080', 'score': 5.03}, {'connected_gene': 'GC02M086172', 'score': 0.34}, {'connected_gene': 'GC02M086283', 'score': 0.25}]
chr2 GH02I086534 86534177 86534224 0.23 [{'connected_gene': 'REEP1', 'score': 2.07}, {'connected_gene': 'GC02M086516', 'score': 0.37}, {'connected_gene': 'RNU6-640P', 'score': 0.37}, {'connected_gene': 'LOC105374845', 'score': 0.31}, {'connected_gene': 'CHMP3', 'score': 0.31}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.09}]
chr2 GH02I086366 86366873 86368800 0.89 [{'connected_gene': 'CHMP3', 'score': 9.54}, {'connected_gene': 'MRPL35', 'score': 7.99}, {'connected_gene': 'REEP1', 'score': 6.48}, {'connected_gene': 'ENSG00000251974', 'score': 0.77}, {'connected_gene': 'GC02P086411', 'score': 0.26}]
chr2 GH02I086631 86631361 86633725 0.79 [{'connected_gene': 'CHMP3', 'score': 14.5}, {'connected_gene': 'RNU6-640P', 'score': 10.15}, {'connected_gene': 'REEP1', 'score': 6.8}, {'connected_gene': 'POLR1A', 'score': 4.03}, {'connected_gene': 'RNF103', 'score': 0.44}, {'connected_gene': 'GC02P086686', 'score': 0.23}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.17}]
chr2 GH02I086562 86562192 86564226 2.1 [{'connected_gene': 'CHMP3', 'score': 563.72}, {'connected_gene': 'LOC105374845', 'score': 562.49}, {'connected_gene': 'LOC102724642', 'score': 16.53}, {'connected_gene': 'LOC100420889', 'score': 15.84}, {'connected_gene': 'SNORD94', 'score': 14.71}, {'connected_gene': 'ENSG00000231259', 'score': 14.55}, {'connected_gene': 'C2orf68', 'score': 11.04}, {'connected_gene': 'USP39', 'score': 10.43}, {'connected_gene': 'MRPL35', 'score': 5.63}, {'connected_gene': 'REEP1', 'score': 4.41}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.1}]
chr2 GH02I086254 86254691 86256000 0.51 [{'connected_gene': 'MRPL35', 'score': 10.15}, {'connected_gene': 'REEP1', 'score': 8.09}, {'connected_gene': 'RGPD1', 'score': 4.57}, {'connected_gene': 'GC02M086172', 'score': 0.29}, {'connected_gene': 'GC02M086283', 'score': 0.28}]
chr2 GH02I086221 86221001 86221401 0.89 [{'connected_gene': 'MRPL35', 'score': 46.13}, {'connected_gene': 'ENSG00000251974', 'score': 11.34}, {'connected_gene': 'REEP1', 'score': 11.09}, {'connected_gene': 'IMMT', 'score': 10.85}, {'connected_gene': 'ENSG00000202537', 'score': 10.7}, {'connected_gene': 'GC02M086172', 'score': 0.77}]
chr2 GH02I086301 86301800 86302544 0.77 [{'connected_gene': 'MRPL35', 'score': 27.04}, {'connected_gene': 'IMMT', 'score': 13.71}, {'connected_gene': 'REEP1', 'score': 11.93}, {'connected_gene': 'ENSG00000202537', 'score': 11.24}, {'connected_gene': 'GC02M086309', 'score': 0.44}, {'connected_gene': 'GC02M086283', 'score': 0.44}]
chr2 GH02I086319 86319046 86321580 0.43 [{'connected_gene': 'MRPL35', 'score': 12.72}, {'connected_gene': 'ENSG00000202537', 'score': 12.23}, {'connected_gene': 'ENSG00000251974', 'score': 11.33}, {'connected_gene': 'IMMT', 'score': 10.35}, {'connected_gene': 'GC02M086309', 'score': 0.44}, {'connected_gene': 'REEP1', 'score': 0.37}]
chr2 GH02I086249 86249286 86250857 1.14 [{'connected_gene': 'MRPL35', 'score': 25.48}, {'connected_gene': 'IMMT', 'score': 12.14}, {'connected_gene': 'PLGLB1', 'score': 4.33}, {'connected_gene': 'GC02M086172', 'score': 0.31}, {'connected_gene': 'GC02M086283', 'score': 0.26}, {'connected_gene': 'REEP1', 'score': 0.17}]
chr2 GH02I086215 86215483 86216564 0.69 [{'connected_gene': 'IMMT', 'score': 11.67}, {'connected_gene': 'ENSG00000251974', 'score': 11.52}, {'connected_gene': 'REEP1', 'score': 11.09}, {'connected_gene': 'ENSG00000202537', 'score': 10.51}, {'connected_gene': 'KDM3A', 'score': 10.06}, {'connected_gene': 'POLR1A', 'score': 7.54}, {'connected_gene': 'CHMP3', 'score': 5.85}, {'connected_gene': 'GC02M086172', 'score': 0.44}, {'connected_gene': 'MRPL35', 'score': 0.37}]
chr2 GH02I086216 86216831 86217588 1.23 [{'connected_gene': 'IMMT', 'score': 11.67}, {'connected_gene': 'ENSG00000251974', 'score': 11.25}, {'connected_gene': 'REEP1', 'score': 11.09}, {'connected_gene': 'ENSG00000202537', 'score': 10.47}, {'connected_gene': 'KDM3A', 'score': 10.06}, {'connected_gene': 'POLR1A', 'score': 6.49}, {'connected_gene': 'GC02M086172', 'score': 0.44}, {'connected_gene': 'MRPL35', 'score': 0.37}]
chr2 GH02I086235 86235538 86235687 0.8 [{'connected_gene': 'IMMT', 'score': 34.59}, {'connected_gene': 'ENSG00000251974', 'score': 11.49}, {'connected_gene': 'REEP1', 'score': 11.28}, {'connected_gene': 'ENSG00000202537', 'score': 11.26}, {'connected_gene': 'MRPL35', 'score': 11.07}, {'connected_gene': 'GC02M086172', 'score': 0.39}, {'connected_gene': 'GC02M086283', 'score': 0.22}]
chr2 GH02I086283 86283130 86284087 0.6 [{'connected_gene': 'IMMT', 'score': 12.08}, {'connected_gene': 'MRPL35', 'score': 9.87}, {'connected_gene': 'REEP1', 'score': 3.58}, {'connected_gene': 'GC02M086283', 'score': 0.39}, {'connected_gene': 'GC02M086172', 'score': 0.22}]
chr2 GH02I086331 86331179 86332037 0.43 [{'connected_gene': 'IMMT', 'score': 9.58}, {'connected_gene': 'MRPL35', 'score': 9.1}, {'connected_gene': 'REEP1', 'score': 7.93}, {'connected_gene': 'GC02M086309', 'score': 0.37}]
chr2 GH02I086274 86274581 86276271 1 [{'connected_gene': 'IMMT', 'score': 12.11}, {'connected_gene': 'MRPL35', 'score': 4.42}, {'connected_gene': 'GC02M086283', 'score': 0.37}, {'connected_gene': 'GC02M086172', 'score': 0.23}, {'connected_gene': 'REEP1', 'score': 0.21}]
chr2 GH02I086279 86279787 86280974 0.38 [{'connected_gene': 'IMMT', 'score': 15.83}, {'connected_gene': 'MRPL35', 'score': 9.87}, {'connected_gene': 'POLR1A', 'score': 7.52}, {'connected_gene': 'GC02M086283', 'score': 0.39}, {'connected_gene': 'REEP1', 'score': 0.22}, {'connected_gene': 'GC02M086172', 'score': 0.22}]
chr2 GH02I086214 86214278 86214427 1.13 [{'connected_gene': 'USP39', 'score': 14.44}, {'connected_gene': 'POLR1A', 'score': 11.45}, {'connected_gene': 'ENSG00000251974', 'score': 11.23}, {'connected_gene': 'ENSG00000202537', 'score': 10.65}, {'connected_gene': 'GC02M086172', 'score': 0.44}, {'connected_gene': 'MRPL35', 'score': 0.39}, {'connected_gene': 'REEP1', 'score': 0.13}]
chr2 GH02I086372 86372998 86373147 0.56 [{'connected_gene': 'ENSG00000202537', 'score': 11.48}, {'connected_gene': 'REEP1', 'score': 11.4}, {'connected_gene': 'KDM3A', 'score': 10.61}, {'connected_gene': 'IMMT', 'score': 10.44}, {'connected_gene': 'MRPL35', 'score': 10.44}, {'connected_gene': 'RNU6-640P', 'score': 9.63}, {'connected_gene': 'CHMP3', 'score': 9.61}, {'connected_gene': 'ENSG00000251974', 'score': 0.44}, {'connected_gene': 'GC02P086411', 'score': 0.28}]
chr2 GH02I086238 86238538 86238667 0.54 [{'connected_gene': 'ENSG00000251974', 'score': 11.49}, {'connected_gene': 'REEP1', 'score': 11.29}, {'connected_gene': 'ENSG00000202537', 'score': 11.27}, {'connected_gene': 'MRPL35', 'score': 11.07}, {'connected_gene': 'IMMT', 'score': 11.06}, {'connected_gene': 'GC02M086172', 'score': 0.39}, {'connected_gene': 'GC02M086283', 'score': 0.22}]
chr2 GH02I086275 86274509 86274547 0.74 [{'connected_gene': 'GC02M086283', 'score': 0.34}, {'connected_gene': 'GC02M086172', 'score': 0.23}, {'connected_gene': 'REEP1', 'score': 0.21}]
chr2 GH02I086397 86397754 86398426 0.7 [{'connected_gene': 'ENSG00000251974', 'score': 11.25}, {'connected_gene': 'KDM3A', 'score': 11.22}, {'connected_gene': 'ENSG00000202537', 'score': 10.18}, {'connected_gene': 'RNU6-640P', 'score': 10.1}, {'connected_gene': 'CHMP3', 'score': 10.07}, {'connected_gene': 'REEP1', 'score': 9.97}, {'connected_gene': 'POLR1A', 'score': 7.79}, {'connected_gene': 'MRPL35', 'score': 5.25}, {'connected_gene': 'GC02P086411', 'score': 0.39}]
chr2 GH02I086398 86398638 86398787 0.46 [{'connected_gene': 'ENSG00000251974', 'score': 11.25}, {'connected_gene': 'KDM3A', 'score': 11.22}, {'connected_gene': 'ENSG00000202537', 'score': 10.18}, {'connected_gene': 'RNU6-640P', 'score': 10.1}, {'connected_gene': 'CHMP3', 'score': 10.07}, {'connected_gene': 'REEP1', 'score': 9.96}, {'connected_gene': 'POLR1A', 'score': 7.47}, {'connected_gene': 'GC02P086411', 'score': 0.39}]
chr2 GH02I086480 86480665 86490256 0.43 [{'connected_gene': 'GC02P086487', 'score': 550.77}, {'connected_gene': 'CHMP3', 'score': 22.74}, {'connected_gene': 'RNU6-640P', 'score': 11.44}, {'connected_gene': 'MRPL35', 'score': 7.96}, {'connected_gene': 'PLGLB1', 'score': 4.59}, {'connected_gene': 'REEP1', 'score': 4.46}, {'connected_gene': 'GC02M086424', 'score': 0.37}, {'connected_gene': 'KDM3A', 'score': 0.26}, {'connected_gene': 'GC02P086423', 'score': 0.21}]
chr2 GH02I086294 86294696 86295592 0.31 [{'connected_gene': 'GC02M086283', 'score': 550.77}, {'connected_gene': 'MRPL35', 'score': 17.78}, {'connected_gene': 'REEP1', 'score': 11.34}, {'connected_gene': 'ENSG00000202537', 'score': 10.77}, {'connected_gene': 'IMMT', 'score': 10.74}, {'connected_gene': 'GC02M086309', 'score': 0.37}]
chr2 GH02I086222 86222446 86226438 1.45 [{'connected_gene': 'GC02M086172', 'score': 550.77}, {'connected_gene': 'MRPL35', 'score': 43.42}, {'connected_gene': 'IMMT', 'score': 36.06}, {'connected_gene': 'POLR1A', 'score': 20.79}, {'connected_gene': 'REEP1', 'score': 15.95}, {'connected_gene': 'ENSG00000251974', 'score': 11.34}, {'connected_gene': 'ENSG00000202537', 'score': 10.7}, {'connected_gene': 'ENSG00000273080', 'score': 4.88}, {'connected_gene': 'RNF103', 'score': 1.53}, {'connected_gene': 'RMND5A', 'score': 1.38}, {'connected_gene': 'GC02M086283', 'score': 0.19}]
chr2 GH02I085883 85883293 85885647 0.38 [{'connected_gene': 'GC02P085883', 'score': 550.77}, {'connected_gene': 'RNU1-38P', 'score': 10.86}, {'connected_gene': 'ENSG00000272564', 'score': 5.05}, {'connected_gene': 'POLR1A', 'score': 4.62}, {'connected_gene': 'REEP1', 'score': 4.42}, {'connected_gene': 'GC02M085889', 'score': 0.77}, {'connected_gene': 'GC02M085888', 'score': 0.77}, {'connected_gene': 'ST3GAL5', 'score': 0.34}]

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