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
ENST00000555449 [[37147635, 37147689], [37149866, 37149924], [37153032, 37153085], [37153948, 37154130], [37180522, 37180687], [37194774, 37194882], [37198711, 37198771], [37203711, 37203778], [37283122, 37283206], [37344160, 37344209], [37641485, 37641628]] [[37147688, 37147689], [37149866, 37149924], [37153032, 37153085], [37153948, 37154130], [37180522, 37180687], [37194774, 37194882], [37198711, 37198771], [37203711, 37203778], [37283122, 37283206], [37344160, 37344209], [37641485, 37641555]]
ENST00000331299 [[37148493, 37149924], [37153032, 37153085], [37153948, 37154130], [37180522, 37180687], [37194774, 37194882], [37198711, 37198771], [37203711, 37203778], [37283122, 37283206], [37344160, 37344209], [37641485, 37642071]] [[37149862, 37149924], [37153032, 37153085], [37153948, 37154130], [37180522, 37180687], [37194774, 37194882], [37198711, 37198771], [37203711, 37203778], [37283122, 37283206], [37344160, 37344209], [37641485, 37641555]]
ENST00000546428 [[37194357, 37194673], [37194774, 37194882], [37198711, 37198771], [37203711, 37203778], [37228854, 37228923]] None
ENST00000557611 [[37339679, 37340155], [37344160, 37344209], [37641485, 37641551]] None
ENST00000556444 [[37180521, 37180687], [37194774, 37194884]] None
NM_030631 [[37147125, 37149924], [37153032, 37153085], [37153948, 37154130], [37180522, 37180687], [37194774, 37194882], [37198711, 37198771], [37203711, 37203778], [37283122, 37283206], [37344160, 37344209], [37641485, 37641865]] [[37149862, 37149924], [37153032, 37153085], [37153948, 37154130], [37180522, 37180687], [37194774, 37194882], [37198711, 37198771], [37203711, 37203778], [37283122, 37283206], [37344160, 37344209], [37641485, 37641555]]
NM_001171170 [[37147125, 37147689], [37149866, 37149924], [37153032, 37153085], [37153948, 37154130], [37180522, 37180687], [37194774, 37194882], [37198711, 37198771], [37203711, 37203778], [37283122, 37283206], [37344160, 37344209], [37641485, 37641865]] [[37147688, 37147689], [37149866, 37149924], [37153032, 37153085], [37153948, 37154130], [37180522, 37180687], [37194774, 37194882], [37198711, 37198771], [37203711, 37203778], [37283122, 37283206], [37344160, 37344209], [37641485, 37641555]]
Promoter
Chrom Start End Description
chr14 37641618 37641632 CAGE_peak_4_at_SLC25A21_5end
chr14 37641689 37641711 CAGE_peak_2_at_SLC25A21_5end
chr14 37641764 37641816 CAGE_peak_1_at_SLC25A21_5end
chr14 37641821 37641833 CAGE_peak_8_at_SLC25A21_5end
chr14 37641855 37641867 CAGE_peak_5_at_SLC25A21_5end
chr14 37641903 37641917 CAGE_peak_6_at_SLC25A21_5end
chr14 37641937 37641948 CAGE_peak_9_at_SLC25A21_5end
chr14 37642016 37642022 CAGE_peak_7_at_SLC25A21_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I037174 37174716 37174818 0.43 [{'connected_gene': 'SLC25A21', 'score': 550.77}, {'connected_gene': 'RNU6-273P', 'score': 0.39}]
chr14 GH14I036683 36683010 36683701 0.52 [{'connected_gene': 'SLC25A21', 'score': 6.29}, {'connected_gene': 'LOC105370455', 'score': 0.34}, {'connected_gene': 'ENSG00000258690', 'score': 0.14}]
chr2 GH02I010477 10477260 10477847 0.56 [{'connected_gene': 'ODC1', 'score': 12.17}, {'connected_gene': 'SNORA80B', 'score': 12.16}, {'connected_gene': 'PIR33833', 'score': 0.34}, {'connected_gene': 'LOC105373426', 'score': 0.19}]
chr2 GH02I010513 10513945 10516004 0.8 [{'connected_gene': 'NOL10', 'score': 11.34}, {'connected_gene': 'LOC101929882', 'score': 11.15}, {'connected_gene': 'TAF1B', 'score': 9.88}, {'connected_gene': 'ODC1', 'score': 5.51}, {'connected_gene': 'LOC105373426', 'score': 0.29}, {'connected_gene': 'PIR33833', 'score': 0.22}]
chr2 GH02I010119 10119383 10125485 2.63 [{'connected_gene': 'RRM2', 'score': 563.82}, {'connected_gene': 'ENSG00000284681', 'score': 550.77}, {'connected_gene': 'LOC101929882', 'score': 21.81}, {'connected_gene': 'ENSG00000233502', 'score': 11.78}, {'connected_gene': 'CYS1', 'score': 11.76}, {'connected_gene': 'TAF1B', 'score': 11.1}, {'connected_gene': 'SNORA80B', 'score': 10.78}, {'connected_gene': 'HPCAL1', 'score': 10.68}, {'connected_gene': 'LOC101929691', 'score': 10.09}, {'connected_gene': 'ODC1', 'score': 2.58}]
chr14 GH14I037167 37167275 37169342 1.16 [{'connected_gene': 'MBIP', 'score': 10.73}, {'connected_gene': 'SLC25A21', 'score': 0.77}, {'connected_gene': 'SLC25A21-AS1', 'score': 0.77}, {'connected_gene': 'GC14P037106', 'score': 0.21}]
chr14 GH14I037511 37511452 37511774 0.24 [{'connected_gene': 'MIPOL1', 'score': 9.19}, {'connected_gene': 'SLC25A21', 'score': 2.94}, {'connected_gene': 'ENSG00000258414', 'score': 0.23}, {'connected_gene': 'GC14M037437', 'score': 0.18}, {'connected_gene': 'RNU6-886P', 'score': 0.18}]
chr14 GH14I036981 36981823 36983155 0.56 [{'connected_gene': 'MIPOL1', 'score': 6.52}, {'connected_gene': 'GC14P036975', 'score': 0.44}, {'connected_gene': 'GC14P037020', 'score': 0.28}, {'connected_gene': 'SLC25A21', 'score': 0.08}]
chr14 GH14I036848 36848141 36848496 0.68 [{'connected_gene': 'MIPOL1', 'score': 20.76}, {'connected_gene': 'NKX2-8', 'score': 18.03}, {'connected_gene': 'SLC25A21', 'score': 9.95}, {'connected_gene': 'ENSG00000258601', 'score': 0.28}, {'connected_gene': 'MIR4503', 'score': 0.15}]
chr14 GH14I036841 36841534 36841866 0.22 [{'connected_gene': 'MIPOL1', 'score': 4.76}, {'connected_gene': 'NKX2-8', 'score': 4.42}, {'connected_gene': 'SLC25A21', 'score': 3.35}, {'connected_gene': 'ENSG00000258601', 'score': 0.29}, {'connected_gene': 'MIR4503', 'score': 0.14}]
chr14 GH14I036999 36999746 37000200 0.26 [{'connected_gene': 'MIPOL1', 'score': 9.32}, {'connected_gene': 'NKX2-8', 'score': 3.66}, {'connected_gene': 'SLC25A21', 'score': 3.05}, {'connected_gene': 'GC14P036975', 'score': 0.34}, {'connected_gene': 'GC14P037020', 'score': 0.34}]
chr14 GH14I037000 37000513 37000805 0.39 [{'connected_gene': 'MIPOL1', 'score': 36.7}, {'connected_gene': 'NKX2-8', 'score': 28.59}, {'connected_gene': 'SLC25A21', 'score': 13.85}, {'connected_gene': 'GC14P036975', 'score': 0.34}, {'connected_gene': 'GC14P037020', 'score': 0.34}]
chr14 GH14I036995 36995984 36996285 0.44 [{'connected_gene': 'MIPOL1', 'score': 31.39}, {'connected_gene': 'NKX2-8', 'score': 25.13}, {'connected_gene': 'SLC25A21', 'score': 12.92}, {'connected_gene': 'GC14P036975', 'score': 0.34}, {'connected_gene': 'GC14P037020', 'score': 0.34}]
chr14 GH14I036685 36685047 36685387 0.4 [{'connected_gene': 'LOC105370455', 'score': 0.34}, {'connected_gene': 'ENSG00000258690', 'score': 0.15}, {'connected_gene': 'SLC25A21', 'score': 0.04}]
chr14 GH14I036701 36701296 36701425 0.56 [{'connected_gene': 'LOC105370455', 'score': 0.28}, {'connected_gene': 'ENSG00000258690', 'score': 0.17}, {'connected_gene': 'SLC25A21', 'score': 0.04}]
chr14 GH14I036700 36700396 36700545 0.31 [{'connected_gene': 'LOC105370455', 'score': 0.28}, {'connected_gene': 'ENSG00000258690', 'score': 0.17}, {'connected_gene': 'SLC25A21', 'score': 0.04}]
chr2 GH02I010444 10444557 10445032 0.6 [{'connected_gene': 'LOC101929691', 'score': 10.38}, {'connected_gene': 'HPCAL1', 'score': 10.23}, {'connected_gene': 'SNORA80B', 'score': 0.77}, {'connected_gene': 'ODC1', 'score': 0.77}, {'connected_gene': 'GC02M010446', 'score': 0.77}, {'connected_gene': 'PIR41580', 'score': 0.29}]
chr14 GH14I036944 36944670 36944978 0.64 [{'connected_gene': 'MIR4503', 'score': 0.44}, {'connected_gene': 'ENSG00000258601', 'score': 0.12}, {'connected_gene': 'SLC25A21', 'score': 0.07}]
chr14 GH14I036942 36942316 36942445 0.68 [{'connected_gene': 'MIR4503', 'score': 0.39}, {'connected_gene': 'ENSG00000258601', 'score': 0.12}, {'connected_gene': 'SLC25A21', 'score': 0.07}]
chr14 GH14I036952 36952442 36953718 0.56 [{'connected_gene': 'MIR4503', 'score': 550.77}, {'connected_gene': 'PAX9', 'score': 7.8}, {'connected_gene': 'GC14P036975', 'score': 0.34}, {'connected_gene': 'SLC25A21', 'score': 0.08}]
chr2 GH02I010493 10493044 10494707 1.34 [{'connected_gene': 'SNORA80B', 'score': 10.84}, {'connected_gene': 'ODC1', 'score': 10.73}, {'connected_gene': 'NOL10', 'score': 1.3}, {'connected_gene': 'PIR33833', 'score': 0.28}, {'connected_gene': 'LOC105373426', 'score': 0.23}]
chr2 GH02I010487 10487215 10487364 0.95 [{'connected_gene': 'SNORA80B', 'score': 10.85}, {'connected_gene': 'ODC1', 'score': 10.76}, {'connected_gene': 'PIR33833', 'score': 0.29}, {'connected_gene': 'LOC105373426', 'score': 0.21}]
chr2 GH02I010490 10490348 10491543 0.72 [{'connected_gene': 'SNORA80B', 'score': 10.85}, {'connected_gene': 'ODC1', 'score': 10.74}, {'connected_gene': 'PIR33833', 'score': 0.28}, {'connected_gene': 'LOC105373426', 'score': 0.22}]
chr2 GH02I010445 10445104 10446087 0.67 [{'connected_gene': 'SNORA80B', 'score': 550.77}, {'connected_gene': 'GC02M010446', 'score': 550.77}, {'connected_gene': 'LOC101929691', 'score': 10.38}, {'connected_gene': 'HPCAL1', 'score': 10.23}, {'connected_gene': 'ODC1', 'score': 0.77}, {'connected_gene': 'PIR41580', 'score': 0.28}]
chr14 GH14I037121 37121322 37122669 0.65 [{'connected_gene': 'SLC25A21-AS1', 'score': 6.72}, {'connected_gene': 'SLC25A21', 'score': 5.21}, {'connected_gene': 'GC14P037106', 'score': 0.37}]
chr14 GH14I037048 37048417 37049017 0.43 [{'connected_gene': 'SLC25A21-AS1', 'score': 7.23}, {'connected_gene': 'GC14P037020', 'score': 0.31}, {'connected_gene': 'ENSG00000258827', 'score': 0.25}, {'connected_gene': 'SLC25A21', 'score': 0.13}]
chr14 GH14I037116 37116134 37118285 0.85 [{'connected_gene': 'SLC25A21-AS1', 'score': 12.37}, {'connected_gene': 'SLC25A21', 'score': 5.2}, {'connected_gene': 'GC14P037106', 'score': 0.39}]
chr14 GH14I037060 37060956 37061228 0.49 [{'connected_gene': 'SLC25A21-AS1', 'score': 9.42}, {'connected_gene': 'ENSG00000258827', 'score': 0.28}, {'connected_gene': 'GC14P037020', 'score': 0.26}, {'connected_gene': 'SLC25A21', 'score': 0.14}]
chr14 GH14I037171 37171516 37173373 2.06 [{'connected_gene': 'SLC25A21-AS1', 'score': 566.63}, {'connected_gene': 'SLC25A21', 'score': 550.77}]
chr14 GH14I037170 37170170 37171005 0.59 [{'connected_gene': 'SLC25A21-AS1', 'score': 559.31}, {'connected_gene': 'SLC25A21', 'score': 0.77}, {'connected_gene': 'GC14P037106', 'score': 0.21}]
chr14 GH14I037142 37142429 37143767 0.86 [{'connected_gene': 'SLC25A21-AS1', 'score': 12.48}, {'connected_gene': 'MBIP', 'score': 10.73}, {'connected_gene': 'SLC25A21', 'score': 0.31}, {'connected_gene': 'GC14P037106', 'score': 0.28}]
chr14 GH14I037090 37090009 37090248 0.74 [{'connected_gene': 'ENSG00000258827', 'score': 0.44}, {'connected_gene': 'GC14P037020', 'score': 0.2}, {'connected_gene': 'SLC25A21', 'score': 0.18}]
chr14 GH14I037051 37051546 37051802 0.2 [{'connected_gene': 'GC14P037020', 'score': 0.29}, {'connected_gene': 'ENSG00000258827', 'score': 0.25}, {'connected_gene': 'SLC25A21', 'score': 0.13}]
chr14 GH14I037035 37035737 37035961 0.4 [{'connected_gene': 'GC14P037020', 'score': 0.37}, {'connected_gene': 'ENSG00000258827', 'score': 0.21}, {'connected_gene': 'SLC25A21', 'score': 0.12}]
chr14 GH14I037037 37037136 37037140 0.46 [{'connected_gene': 'GC14P037020', 'score': 0.37}, {'connected_gene': 'ENSG00000258827', 'score': 0.21}, {'connected_gene': 'SLC25A21', 'score': 0.12}]
chr14 GH14I037088 37088898 37089183 0.4 [{'connected_gene': 'ENSG00000258827', 'score': 0.44}, {'connected_gene': 'GC14P037020', 'score': 0.2}, {'connected_gene': 'SLC25A21', 'score': 0.18}]
chr14 GH14I036996 36996439 36997111 0.73 [{'connected_gene': 'GC14P036975', 'score': 0.34}, {'connected_gene': 'GC14P037020', 'score': 0.34}, {'connected_gene': 'SLC25A21', 'score': 0.1}]
chr14 GH14I037081 37081296 37081485 0.59 [{'connected_gene': 'ENSG00000258827', 'score': 0.37}, {'connected_gene': 'GC14P037020', 'score': 0.21}, {'connected_gene': 'SLC25A21', 'score': 0.16}]
chr14 GH14I036767 36767293 36768727 0.91 [{'connected_gene': 'ENSG00000258601', 'score': 38.51}, {'connected_gene': 'RALGAPA1', 'score': 11.55}, {'connected_gene': 'MBIP', 'score': 10.94}, {'connected_gene': 'ENSG00000258690', 'score': 0.34}, {'connected_gene': 'LOC105370455', 'score': 0.14}, {'connected_gene': 'SLC25A21', 'score': 0.05}]
chr14 GH14I036975 36975683 36977273 1.16 [{'connected_gene': 'GC14P036975', 'score': 550.77}, {'connected_gene': 'MIPOL1', 'score': 10.01}, {'connected_gene': 'NKX2-8', 'score': 9.4}, {'connected_gene': 'SLC25A21', 'score': 6.8}, {'connected_gene': 'GC14P037020', 'score': 0.26}]
chr14 GH14I036750 36750728 36751923 0.54 [{'connected_gene': 'ENSG00000258690', 'score': 0.28}, {'connected_gene': 'LOC105370455', 'score': 0.17}, {'connected_gene': 'SLC25A21', 'score': 0.05}]
chr14 GH14I036973 36973660 36974659 0.63 [{'connected_gene': 'GC14P036975', 'score': 550.77}, {'connected_gene': 'MIR4503', 'score': 0.34}, {'connected_gene': 'SLC25A21', 'score': 0.08}]
chr14 GH14I036853 36853029 36853905 0.54 [{'connected_gene': 'ENSG00000258601', 'score': 0.26}, {'connected_gene': 'MIR4503', 'score': 0.15}, {'connected_gene': 'SLC25A21', 'score': 0.06}]
chr14 GH14I036856 36856186 36856434 0.64 [{'connected_gene': 'ENSG00000258601', 'score': 0.25}, {'connected_gene': 'MIR4503', 'score': 0.15}, {'connected_gene': 'SLC25A21', 'score': 0.06}]
chr2 GH02I010446 10446270 10451239 2.3 [{'connected_gene': 'ENSG00000257135', 'score': 561.63}, {'connected_gene': 'SNORA80B', 'score': 550.77}, {'connected_gene': 'ODC1', 'score': 550.77}, {'connected_gene': 'GC02M010446', 'score': 550.77}, {'connected_gene': 'LOC101929715', 'score': 550.77}, {'connected_gene': 'TAF1B', 'score': 10.02}]

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