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
ENST00000368134 [[130465459, 130465949], [130466484, 130466567], [130467154, 130467326], [130475969, 130476170], [130496985, 130497153], [130505247, 130505332], [130505582, 130505768], [130530639, 130530753], [130535481, 130535671], [130536339, 130536439], [130537715, 130537761], [130543838, 130543958], [130634122, 130634238], [130686264, 130686570]] [[130465664, 130465949], [130466484, 130466567], [130467154, 130467326], [130475969, 130476170], [130496985, 130497153], [130505247, 130505332], [130505582, 130505768], [130530639, 130530753], [130535481, 130535671], [130536339, 130536418]]
ENST00000529119 [[130542670, 130542920], [130543838, 130543958], [130607321, 130607390]] None
ENST00000457563 [[130465462, 130465949], [130466484, 130466567], [130467154, 130467326], [130475969, 130476170], [130496985, 130497153], [130505247, 130505332], [130505582, 130505768], [130530639, 130530753], [130535481, 130535671], [130536339, 130536439], [130536941, 130537032]] [[130465664, 130465949], [130466484, 130466567], [130467154, 130467326], [130475969, 130476170], [130496985, 130497153], [130505247, 130505332], [130505582, 130505768], [130530639, 130530753], [130535481, 130535671], [130536339, 130536439], [130536941, 130536992]]
ENST00000439090 [[130465462, 130465949], [130466484, 130466567], [130467154, 130467326], [130475969, 130476170], [130496985, 130497153], [130505247, 130505332], [130505582, 130505768], [130530639, 130530753], [130535481, 130535671], [130536339, 130536439], [130537715, 130537761], [130543838, 130544099]] [[130465664, 130465949], [130466484, 130466567], [130467154, 130467326], [130475969, 130476170], [130496985, 130497153], [130505247, 130505332], [130505582, 130505768], [130530639, 130530753], [130535481, 130535671], [130536339, 130536418]]
ENST00000437477 [[130465525, 130465949], [130466484, 130466567], [130467154, 130467326], [130475969, 130476170], [130496985, 130497153], [130505247, 130505332], [130505582, 130505768], [130530639, 130530753], [130535481, 130535671], [130536339, 130536439], [130537715, 130537761], [130542781, 130542920], [130543838, 130543958]] [[130465664, 130465949], [130466484, 130466567], [130467154, 130467326], [130475969, 130476170], [130496985, 130497153], [130505247, 130505332], [130505582, 130505768], [130530639, 130530753], [130535481, 130535671], [130536339, 130536418]]
ENST00000463253 [[130465828, 130465949], [130467154, 130467326], [130475969, 130475998]] [[130465917, 130465949], [130467154, 130467326], [130475969, 130475998]]
ENST00000532763 [[130480676, 130483420], [130496985, 130497153], [130505247, 130505332], [130505582, 130505768], [130530639, 130530747], [130535481, 130535671], [130536339, 130536439], [130536678, 130536787]] [[130483408, 130483420], [130496985, 130497153], [130505247, 130505332], [130505582, 130505768], [130530639, 130530747], [130535481, 130535671], [130536339, 130536418]]
ENST00000528422 [[130496902, 130497153], [130505247, 130505332], [130505582, 130505765], [130530639, 130530678]] None
ENST00000526886 [[130496979, 130497153], [130505247, 130505332], [130505582, 130505777]] None
ENST00000533296 [[130497048, 130497153], [130497239, 130497331], [130505247, 130505332], [130505582, 130505768], [130530639, 130530753], [130535481, 130535671], [130536339, 130537003]] None
ENST00000324172 [[130504132, 130504454], [130505247, 130505332], [130505582, 130505768], [130530639, 130530753], [130535481, 130535671], [130536339, 130536435]] [[130504442, 130504454], [130505247, 130505332], [130505582, 130505768], [130530639, 130530753], [130535481, 130535671], [130536339, 130536418]]
ENST00000524930 [[130504370, 130504630], [130505247, 130505332], [130505582, 130505768], [130530639, 130530753], [130535481, 130535669], [130536339, 130536435]] [[130535634, 130535669], [130536339, 130536418]]
ENST00000532309 [[130505267, 130505332], [130505582, 130505765], [130530639, 130530753], [130535481, 130535671], [130536339, 130536439], [130537028, 130537055]] [[130505267, 130505332], [130505582, 130505765], [130530639, 130530753], [130535481, 130535671], [130536339, 130536418]]
ENST00000531544 [[130505631, 130505768], [130530639, 130530753], [130535481, 130535671], [130536339, 130536439], [130537028, 130537079]] [[130505631, 130505768], [130530639, 130530753], [130535481, 130535671], [130536339, 130536418]]
ENST00000529723 [[130505645, 130505765], [130530639, 130530753], [130535481, 130535665], [130536339, 130536439], [130537028, 130537055]] [[130505645, 130505765], [130530639, 130530753], [130535481, 130535665], [130536339, 130536418]]
NM_001258275 [[130465446, 130465949], [130466484, 130466567], [130467154, 130467326], [130475969, 130476170], [130496985, 130497153], [130505247, 130505332], [130505582, 130505768], [130530639, 130530753], [130535481, 130535671], [130536339, 130536439], [130537715, 130537761], [130543838, 130543958], [130634122, 130634238], [130686264, 130686570]] [[130465664, 130465949], [130466484, 130466567], [130467154, 130467326], [130475969, 130476170], [130496985, 130497153], [130505247, 130505332], [130505582, 130505768], [130530639, 130530753], [130535481, 130535671], [130536339, 130536418]]
NM_001277185 [[130465446, 130465949], [130466484, 130466567], [130467154, 130467326], [130475969, 130476170], [130496985, 130497153], [130505247, 130505332], [130505582, 130505768], [130530639, 130530753], [130535481, 130535671], [130536339, 130536439], [130536941, 130537030]] [[130465664, 130465949], [130466484, 130466567], [130467154, 130467326], [130475969, 130476170], [130496985, 130497153], [130505247, 130505332], [130505582, 130505768], [130530639, 130530753], [130535481, 130535671], [130536339, 130536439], [130536941, 130536992]]
NM_001017373 [[130465446, 130465949], [130466484, 130466567], [130467154, 130467326], [130475969, 130476170], [130496985, 130497153], [130505247, 130505332], [130505582, 130505768], [130530639, 130530753], [130535481, 130535671], [130536339, 130536439], [130537715, 130537761], [130543838, 130544099]] [[130465664, 130465949], [130466484, 130466567], [130467154, 130467326], [130475969, 130476170], [130496985, 130497153], [130505247, 130505332], [130505582, 130505768], [130530639, 130530753], [130535481, 130535671], [130536339, 130536418]]
Promoter
Chrom Start End Description
chr6 130536707 130536763 CAGE_peak_2_at_SAMD3_5end
chr6 130536774 130536792 CAGE_peak_3_at_SAMD3_5end
chr6 130544089 130544105 CAGE_peak_1_at_SAMD3_5end
chr6 130544116 130544125 CAGE_peak_5_at_SAMD3_5end
chr6 130544130 130544137 CAGE_peak_6_at_SAMD3_5end
chr6 130686742 130686749 CAGE_peak_9_at_SAMD3_5end
chr6 130686977 130686989 CAGE_peak_7_at_SAMD3_5end
chr6 130686994 130687026 CAGE_peak_4_at_SAMD3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I130129 130129873 130134801 0.66 [{'connected_gene': 'L3MBTL3', 'score': 10.12}, {'connected_gene': 'SAMD3', 'score': 6.81}, {'connected_gene': 'LOC105378000', 'score': 0.39}, {'connected_gene': 'ENSG00000227678', 'score': 0.39}]
chr6 GH06I130137 130137547 130139541 0.46 [{'connected_gene': 'L3MBTL3', 'score': 8.69}, {'connected_gene': 'ENSG00000227678', 'score': 0.44}, {'connected_gene': 'LOC105378000', 'score': 0.37}, {'connected_gene': 'SAMD3', 'score': 0.07}]
chr6 GH06I130017 130017901 130021785 2.26 [{'connected_gene': 'L3MBTL3', 'score': 561.77}, {'connected_gene': 'RPL5P21', 'score': 11.06}, {'connected_gene': 'ARHGAP18', 'score': 10.02}, {'connected_gene': 'SAMD3', 'score': 2.17}, {'connected_gene': 'LOC105378000', 'score': 0.15}]
chr6 GH06I130364 130364484 130370743 2.27 [{'connected_gene': 'SAMD3', 'score': 560.21}, {'connected_gene': 'TMEM200A', 'score': 550.77}, {'connected_gene': 'LOC105378159', 'score': 0.37}, {'connected_gene': 'GC06M130284', 'score': 0.28}]
chr6 GH06I130371 130371245 130372835 0.31 [{'connected_gene': 'SAMD3', 'score': 9.93}, {'connected_gene': 'TMEM200A', 'score': 0.44}, {'connected_gene': 'LOC105378159', 'score': 0.39}, {'connected_gene': 'GC06M130284', 'score': 0.29}]
chr6 GH06I130453 130453264 130453593 0.79 [{'connected_gene': 'SAMD3', 'score': 25.02}, {'connected_gene': 'TMEM200A', 'score': 10.85}, {'connected_gene': 'GC06M130284', 'score': 0.25}, {'connected_gene': 'GC06M130560', 'score': 0.14}]
chr6 GH06I130424 130424662 130427020 0.38 [{'connected_gene': 'SAMD3', 'score': 9.98}, {'connected_gene': 'TMEM200A', 'score': 5.8}, {'connected_gene': 'GC06M130284', 'score': 0.34}, {'connected_gene': 'GC06M130560', 'score': 0.12}]
chr6 GH06I130422 130421435 130422511 0.38 [{'connected_gene': 'SAMD3', 'score': 9.88}, {'connected_gene': 'GC06M130284', 'score': 0.37}, {'connected_gene': 'TMEM200A', 'score': 0.22}, {'connected_gene': 'GC06M130560', 'score': 0.11}]
chr6 GH06I130221 130221681 130224558 1.49 [{'connected_gene': 'SAMD3', 'score': 555.95}, {'connected_gene': 'TMEM200A', 'score': 4.89}, {'connected_gene': 'ENSG00000227678', 'score': 0.18}]
chr6 GH06I130376 130376213 130379486 0.4 [{'connected_gene': 'SAMD3', 'score': 10.15}, {'connected_gene': 'LOC105378159', 'score': 0.44}, {'connected_gene': 'TMEM200A', 'score': 0.39}, {'connected_gene': 'GC06M130284', 'score': 0.31}]
chr6 GH06I130239 130239934 130241117 0.31 [{'connected_gene': 'SAMD3', 'score': 7.77}, {'connected_gene': 'ENSG00000227678', 'score': 0.16}]
chr6 GH06I130214 130214967 130216959 1.36 [{'connected_gene': 'SAMD3', 'score': 555.33}, {'connected_gene': 'ENSG00000227678', 'score': 0.2}]
chr6 GH06I130322 130322816 130322945 0.57 [{'connected_gene': 'TMEM200A', 'score': 11.38}, {'connected_gene': 'SAMD3', 'score': 11.38}, {'connected_gene': 'LOC105378159', 'score': 0.21}, {'connected_gene': 'GC06M130284', 'score': 0.18}, {'connected_gene': 'ENSG00000227678', 'score': 0.1}]
chr6 GH06I130324 130324796 130324945 0.38 [{'connected_gene': 'TMEM200A', 'score': 11.38}, {'connected_gene': 'SAMD3', 'score': 11.38}, {'connected_gene': 'LOC105378159', 'score': 0.22}, {'connected_gene': 'GC06M130284', 'score': 0.18}, {'connected_gene': 'ENSG00000227678', 'score': 0.1}]
chr6 GH06I130843 130843681 130843830 0.69 [{'connected_gene': 'TMEM200A', 'score': 10.43}, {'connected_gene': 'SAMD3', 'score': 10.43}, {'connected_gene': 'SMLR1', 'score': 0.37}, {'connected_gene': 'EPB41L2', 'score': 0.08}]
chr6 GH06I130575 130575507 130576745 0.93 [{'connected_gene': 'TMEM200A', 'score': 11.38}, {'connected_gene': 'SAMD3', 'score': 11.38}, {'connected_gene': 'ENSG00000202438', 'score': 0.77}, {'connected_gene': 'GC06P130596', 'score': 0.34}]
chr6 GH06I130524 130524437 130525769 0.56 [{'connected_gene': 'TMEM200A', 'score': 10.91}, {'connected_gene': 'SAMD3', 'score': 10.91}, {'connected_gene': 'GC06M130560', 'score': 0.28}, {'connected_gene': 'GC06M130284', 'score': 0.13}]
chr6 GH06I130625 130625816 130626781 0.81 [{'connected_gene': 'TMEM200A', 'score': 10.93}, {'connected_gene': 'SAMD3', 'score': 10.93}, {'connected_gene': 'GC06P130596', 'score': 0.29}, {'connected_gene': 'ENSG00000229923', 'score': 0.19}]
chr6 GH06I130418 130418056 130418205 0.38 [{'connected_gene': 'TMEM200A', 'score': 10.97}, {'connected_gene': 'SAMD3', 'score': 10.97}, {'connected_gene': 'GC06M130284', 'score': 0.39}, {'connected_gene': 'GC06M130560', 'score': 0.11}]
chr6 GH06I130600 130600088 130605571 1.23 [{'connected_gene': 'TMEM200A', 'score': 29.79}, {'connected_gene': 'SAMD3', 'score': 14.86}, {'connected_gene': 'GC06P130596', 'score': 0.44}, {'connected_gene': 'ENSG00000229923', 'score': 0.16}]
chr6 GH06I130255 130255400 130255659 0.22 [{'connected_gene': 'TMEM200A', 'score': 6.35}, {'connected_gene': 'SAMD3', 'score': 0.14}, {'connected_gene': 'ENSG00000227678', 'score': 0.14}]
chr6 GH06I130258 130258963 130262296 0.89 [{'connected_gene': 'TMEM200A', 'score': 9.97}, {'connected_gene': 'SAMD3', 'score': 7.2}, {'connected_gene': 'ENSG00000227678', 'score': 0.14}]
chr6 GH06I130381 130381856 130382471 0.49 [{'connected_gene': 'LOC105378159', 'score': 550.77}, {'connected_gene': 'SAMD3', 'score': 6.15}, {'connected_gene': 'TMEM200A', 'score': 0.37}, {'connected_gene': 'GC06M130284', 'score': 0.34}]
chr6 GH06I130382 130382636 130383791 0.2 [{'connected_gene': 'LOC105378159', 'score': 550.77}, {'connected_gene': 'SAMD3', 'score': 10.23}, {'connected_gene': 'TMEM200A', 'score': 0.37}, {'connected_gene': 'GC06M130284', 'score': 0.34}]
chr6 GH06I130185 130185804 130186917 0.2 [{'connected_gene': 'ENSG00000227678', 'score': 10.66}, {'connected_gene': 'AKAP7', 'score': 4.4}, {'connected_gene': 'SAMD3', 'score': 0.1}]
chr6 GH06I130182 130182798 130185274 0.76 [{'connected_gene': 'ENSG00000227678', 'score': 11.07}, {'connected_gene': 'SAMD3', 'score': 7.2}]
chr6 GH06I130207 130206885 130208449 0.49 [{'connected_gene': 'ENSG00000227678', 'score': 0.21}, {'connected_gene': 'SAMD3', 'score': 0.1}]
chr6 GH06I130206 130206596 130206745 0.65 [{'connected_gene': 'ENSG00000227678', 'score': 0.21}, {'connected_gene': 'SAMD3', 'score': 0.1}]
chr6 GH06I130224 130224785 130226388 0.31 [{'connected_gene': 'ENSG00000227678', 'score': 10.5}, {'connected_gene': 'SAMD3', 'score': 0.12}]
chr6 GH06I130191 130191111 130191657 0.4 [{'connected_gene': 'ENSG00000227678', 'score': 10.89}, {'connected_gene': 'SAMD3', 'score': 0.09}]
chr6 GH06I130192 130192335 130192608 0.44 [{'connected_gene': 'ENSG00000227678', 'score': 0.25}, {'connected_gene': 'SAMD3', 'score': 0.09}]
chr6 GH06I130198 130198239 130199940 0.43 [{'connected_gene': 'ENSG00000227678', 'score': 0.23}, {'connected_gene': 'SAMD3', 'score': 0.1}]
chr6 GH06I130202 130202796 130203232 0.92 [{'connected_gene': 'ENSG00000227678', 'score': 0.22}, {'connected_gene': 'SAMD3', 'score': 0.1}]
chr6 GH06I130189 130189129 130190316 0.4 [{'connected_gene': 'ENSG00000227678', 'score': 10.9}, {'connected_gene': 'SAMD3', 'score': 0.1}]
chr6 GH06I130213 130213001 130213200 0.4 [{'connected_gene': 'ENSG00000227678', 'score': 0.2}, {'connected_gene': 'SAMD3', 'score': 0.1}]
chr6 GH06I130197 130197896 130198085 0.38 [{'connected_gene': 'ENSG00000227678', 'score': 0.23}, {'connected_gene': 'SAMD3', 'score': 0.1}]
chr6 GH06I130178 130178381 130179372 0.62 [{'connected_gene': 'ENSG00000227678', 'score': 19.04}, {'connected_gene': 'SAMD3', 'score': 0.09}]
chr6 GH06I130697 130697769 130698263 0.57 [{'connected_gene': 'ENSG00000229923', 'score': 550.77}, {'connected_gene': 'TMEM200A', 'score': 11.94}, {'connected_gene': 'SAMD3', 'score': 11.94}, {'connected_gene': 'LOC105378002', 'score': 0.31}]

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