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
ENST00000427241 [[190430238, 190430325], [190436440, 190436567], [190437571, 190437687], [190439886, 190440046], [190444538, 190444606], [190445143, 190445288], [190448059, 190448146], [190448450, 190448484]] [[190430238, 190430325], [190436440, 190436567], [190437571, 190437687], [190439886, 190440046], [190444538, 190444606], [190445143, 190445186]]
ENST00000440626 [[190444573, 190444606], [190445143, 190445250], [190448059, 190448128]] [[190444573, 190444606], [190445143, 190445186]]
ENST00000261024 [[190425304, 190426917], [190428309, 190428951], [190430079, 190430325], [190436440, 190436567], [190437571, 190437687], [190439886, 190440046], [190444538, 190444606], [190445143, 190445613]] [[190426603, 190426917], [190428309, 190428951], [190430079, 190430325], [190436440, 190436567], [190437571, 190437687], [190439886, 190440046], [190444538, 190444606], [190445143, 190445186]]
ENST00000479598 [[190437246, 190437687], [190439886, 190440046], [190444538, 190444606], [190445143, 190445467]] None
ENST00000418714 [[190439886, 190440046], [190443080, 190443198], [190444538, 190444606], [190445143, 190445509]] None
ENST00000455320 [[190439991, 190440046], [190444538, 190444606], [190445143, 190445288], [190446433, 190446757]] [[190439991, 190440046], [190444538, 190444606], [190445143, 190445186]]
ENST00000427419 [[190444573, 190444606], [190445143, 190445288], [190446627, 190446748]] [[190444573, 190444606], [190445143, 190445186]]
NM_014585 [[190425315, 190426917], [190428309, 190428951], [190430079, 190430325], [190436440, 190436567], [190437571, 190437687], [190439886, 190440046], [190444538, 190444606], [190445143, 190445537]] [[190426603, 190426917], [190428309, 190428951], [190430079, 190430325], [190436440, 190436567], [190437571, 190437687], [190439886, 190440046], [190444538, 190444606], [190445143, 190445186]]
Promoter
Chrom Start End Description
chr2 190445499 190445521 CAGE_peak_1_at_SLC40A1_5end
chr2 190446693 190446700 CAGE_peak_10_at_SLC40A1_5end
chr2 190446707 190446734 CAGE_peak_2_at_SLC40A1_5end
chr2 190446738 190446765 CAGE_peak_3_at_SLC40A1_5end
chr2 190448096 190448099 CAGE_peak_15_at_SLC40A1_5end
chr2 190448106 190448113 CAGE_peak_14_at_SLC40A1_5end
chr2 190448118 190448135 CAGE_peak_4_at_SLC40A1_5end
chr2 190448678 190448702 CAGE_peak_5_at_SLC40A1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I189530 189530616 189532007 0.2 [{'connected_gene': 'ASNSD1', 'score': 5.34}, {'connected_gene': 'ANKAR', 'score': 4.84}, {'connected_gene': 'LOC100420666', 'score': 0.26}, {'connected_gene': 'SLC40A1', 'score': 0.23}]
chr2 GH02I189544 189544553 189546673 0.66 [{'connected_gene': 'ASNSD1', 'score': 4.34}, {'connected_gene': 'COL5A2', 'score': 4.13}, {'connected_gene': 'SLC40A1', 'score': 0.28}, {'connected_gene': 'LOC100420666', 'score': 0.22}]
chr2 GH02I189573 189573975 189585473 2.43 [{'connected_gene': 'SLC40A1', 'score': 559.58}, {'connected_gene': 'HNRNPCP2', 'score': 13.46}, {'connected_gene': 'ORMDL1', 'score': 12.89}, {'connected_gene': 'NEMP2', 'score': 10.42}, {'connected_gene': 'ASNSD1', 'score': 5.78}, {'connected_gene': 'LOC100420666', 'score': 0.16}]
chr2 GH02I189520 189520943 189524993 1.29 [{'connected_gene': 'SLC40A1', 'score': 5.08}, {'connected_gene': 'ANKAR', 'score': 4.64}, {'connected_gene': 'LOC100420666', 'score': 0.29}]
chr2 GH02I189551 189551528 189562937 1.33 [{'connected_gene': 'SLC40A1', 'score': 17.72}, {'connected_gene': 'COL5A2', 'score': 4.93}, {'connected_gene': 'LOC100420666', 'score': 0.2}]
chr2 GH02I189505 189505056 189507423 1.33 [{'connected_gene': 'SLC40A1', 'score': 4.9}, {'connected_gene': 'LOC100420666', 'score': 0.37}]
chr2 GH02I189570 189570244 189570949 0.95 [{'connected_gene': 'SLC40A1', 'score': 0.39}, {'connected_gene': 'LOC100420666', 'score': 0.18}]
chr2 GH02I189549 189548075 189548224 0.4 [{'connected_gene': 'SLC40A1', 'score': 0.28}, {'connected_gene': 'LOC100420666', 'score': 0.22}]
chr2 GH02I189569 189569202 189570039 0.51 [{'connected_gene': 'SLC40A1', 'score': 5.97}, {'connected_gene': 'LOC100420666', 'score': 0.18}]
chr2 GH02I189548 189548576 189550224 1.16 [{'connected_gene': 'SLC40A1', 'score': 0.29}, {'connected_gene': 'LOC100420666', 'score': 0.21}]
chr2 GH02I189540 189540018 189544178 1.06 [{'connected_gene': 'SLC40A1', 'score': 0.26}, {'connected_gene': 'LOC100420666', 'score': 0.23}]
chr2 GH02I189533 189533003 189535797 1.44 [{'connected_gene': 'SLC40A1', 'score': 0.25}, {'connected_gene': 'LOC100420666', 'score': 0.25}]
chr2 GH02I189563 189563366 189564582 0.2 [{'connected_gene': 'SLC40A1', 'score': 6.34}, {'connected_gene': 'LOC100420666', 'score': 0.18}]
chr2 GH02I189608 189608057 189610155 0.92 [{'connected_gene': 'SLC40A1', 'score': 11.72}, {'connected_gene': 'ENSG00000276828', 'score': 0.37}]
chr2 GH02I189564 189564855 189567346 0.38 [{'connected_gene': 'COL5A2', 'score': 5.6}, {'connected_gene': 'SLC40A1', 'score': 0.37}, {'connected_gene': 'LOC100420666', 'score': 0.18}]
chr2 GH02I189791 189791103 189792281 0.2 [{'connected_gene': 'OSGEPL1-AS1', 'score': 12.32}, {'connected_gene': 'OSGEPL1', 'score': 12.32}, {'connected_gene': 'ANKAR', 'score': 10.58}, {'connected_gene': 'SLC40A1', 'score': 3.92}, {'connected_gene': 'ORMDL1', 'score': 0.44}, {'connected_gene': 'PMS1', 'score': 0.44}, {'connected_gene': 'LOC100421409', 'score': 0.29}]
chr2 GH02I189611 189611774 189615251 1.37 [{'connected_gene': 'OSGEPL1-AS1', 'score': 12.26}, {'connected_gene': 'HIBCH', 'score': 3.99}, {'connected_gene': 'ENSG00000276828', 'score': 0.39}, {'connected_gene': 'SLC40A1', 'score': 0.31}]
chr2 GH02I189516 189516615 189516764 0.82 [{'connected_gene': 'LOC100420666', 'score': 0.31}, {'connected_gene': 'SLC40A1', 'score': 0.2}]
chr2 GH02I189503 189503172 189505025 0.2 [{'connected_gene': 'LOC100420666', 'score': 0.37}, {'connected_gene': 'SLC40A1', 'score': 0.18}]
chr2 GH02I189500 189500895 189501044 0.51 [{'connected_gene': 'LOC100420666', 'score': 0.39}, {'connected_gene': 'SLC40A1', 'score': 0.18}]
chr2 GH02I189514 189514215 189514364 0.4 [{'connected_gene': 'LOC100420666', 'score': 0.31}, {'connected_gene': 'SLC40A1', 'score': 0.2}]

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