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
ENST00000532636 [[122928196, 122928627], [122928959, 122929192], [122929339, 122929538], [122929766, 122929969], [122930180, 122930736], [122930823, 122930976], [122931300, 122931506], [122931827, 122932037], [122932382, 122932497]] [[122928441, 122928627], [122928959, 122929192], [122929339, 122929538], [122929766, 122929969], [122930180, 122930736], [122930823, 122930976], [122931300, 122931506], [122931827, 122932032]]
ENST00000533540 [[122928196, 122928627], [122928959, 122929192], [122929339, 122929538], [122929766, 122929969], [122930180, 122930556], [122931405, 122931506], [122931827, 122932037], [122932771, 122932844]] [[122928441, 122928627], [122928959, 122929192], [122929339, 122929538], [122929766, 122929969], [122930180, 122930556], [122931405, 122931506], [122931827, 122932032]]
ENST00000453788 [[122928196, 122928536], [122929474, 122929538], [122929766, 122929969], [122930180, 122930736], [122930823, 122930976], [122931300, 122931506], [122931827, 122932037], [122932771, 122933043]] [[122928441, 122928536], [122929474, 122929538], [122929766, 122929969], [122930180, 122930736], [122930823, 122930976], [122931300, 122931506], [122931827, 122932032]]
ENST00000534624 [[122928196, 122928627], [122928959, 122929192], [122929339, 122929538], [122929766, 122929969], [122930180, 122930736], [122930823, 122930976], [122931300, 122931506], [122931827, 122932037], [122932771, 122933043]] [[122928441, 122928627], [122928959, 122929192], [122929339, 122929538], [122929766, 122929969], [122930180, 122930736], [122930823, 122930976], [122931300, 122931506], [122931827, 122932032]]
ENST00000532091 [[122928203, 122928627], [122928959, 122929969], [122930180, 122930736], [122930823, 122931134]] None
ENST00000227378 [[122928204, 122928627], [122928959, 122929192], [122929339, 122929538], [122929766, 122929969], [122930180, 122930736], [122930823, 122930976], [122931300, 122931506], [122931827, 122932040]] [[122928441, 122928627], [122928959, 122929192], [122929339, 122929538], [122929766, 122929969], [122930180, 122930736], [122930823, 122930976], [122931300, 122931506], [122931827, 122932032]]
ENST00000534319 [[122928205, 122928627], [122928959, 122929192], [122929339, 122929538], [122929766, 122929969], [122930180, 122930736], [122930823, 122931094]] [[122928441, 122928627], [122928959, 122929192], [122929339, 122929538], [122929766, 122929969], [122930180, 122930592]]
ENST00000526110 [[122928408, 122928627], [122928959, 122929192], [122929339, 122929538], [122929766, 122929969], [122930180, 122930736], [122930823, 122930919], [122931300, 122931506], [122931827, 122932039]] [[122928441, 122928627], [122928959, 122929192], [122929339, 122929538], [122929766, 122929969], [122930180, 122930736], [122930823, 122930919], [122931300, 122931506], [122931827, 122932032]]
ENST00000524552 [[122928486, 122928627], [122928959, 122929192], [122929339, 122929538], [122929766, 122930156]] [[122928486, 122928627], [122928959, 122929192], [122929339, 122929538], [122929766, 122929862]]
ENST00000526686 [[122928586, 122928627], [122928959, 122929192], [122929339, 122929805]] [[122928586, 122928627], [122928959, 122929192], [122929339, 122929517]]
ENST00000533238 [[122929498, 122929538], [122929766, 122929811], [122931412, 122931506], [122931827, 122932037], [122932771, 122932847]] None
ENST00000526862 [[122929863, 122929969], [122930180, 122930470], [122930823, 122930931]] None
ENST00000527983 [[122929940, 122930736], [122930823, 122930976], [122931300, 122931506], [122931827, 122932037], [122932771, 122932915]] None
ENST00000528292 [[122930183, 122930736], [122930823, 122930976], [122931300, 122931506], [122931827, 122931966], [122932771, 122932832]] [[122930183, 122930736], [122930823, 122930976], [122931300, 122931506], [122931827, 122931852]]
ENST00000532780 [[122930521, 122930976], [122931300, 122931506], [122931827, 122932037], [122933054, 122933377]] None
ENST00000525463 [[122930672, 122930736], [122930823, 122930976], [122931300, 122931383], [122931827, 122932037], [122932771, 122932844]] [[122930672, 122930736], [122930823, 122930976], [122931300, 122931383], [122931827, 122932032]]
ENST00000532167 [[122930689, 122930976], [122931827, 122932037], [122932771, 122932844]] None
ENST00000525624 [[122930825, 122930976], [122931300, 122931506], [122931827, 122932037], [122933457, 122933938]] [[122930825, 122930976], [122931300, 122931506], [122931827, 122932032]]
ENST00000534567 [[122930836, 122930976], [122931300, 122931506], [122931827, 122932037], [122932159, 122932191]] [[122930836, 122930976], [122931300, 122931506], [122931827, 122932032]]
ENST00000527387 [[122930853, 122930976], [122931300, 122931506], [122931827, 122932037], [122933020, 122933060]] [[122930853, 122930976], [122931300, 122931506], [122931827, 122932032]]
ENST00000532182 [[122930872, 122930976], [122931300, 122931506], [122931827, 122932037], [122932576, 122932730]] [[122930872, 122930976], [122931300, 122931506], [122931827, 122932032]]
ENST00000524590 [[122931300, 122931506], [122931827, 122932037], [122932620, 122932740]] [[122931300, 122931506], [122931827, 122932032]]
ENST00000530391 [[122931314, 122931506], [122931827, 122932037], [122932295, 122932541]] [[122931314, 122931506], [122931827, 122932032]]
ENST00000531063 [[122931532, 122932037], [122932771, 122932844]] None
NM_006597 [[122928199, 122928627], [122928959, 122929192], [122929339, 122929538], [122929766, 122929969], [122930180, 122930736], [122930823, 122930976], [122931300, 122931506], [122931827, 122932037], [122932771, 122933043]] [[122928441, 122928627], [122928959, 122929192], [122929339, 122929538], [122929766, 122929969], [122930180, 122930736], [122930823, 122930976], [122931300, 122931506], [122931827, 122932032]]
NM_153201 [[122928199, 122928536], [122929474, 122929538], [122929766, 122929969], [122930180, 122930736], [122930823, 122930976], [122931300, 122931506], [122931827, 122932037], [122932771, 122933043]] [[122928441, 122928536], [122929474, 122929538], [122929766, 122929969], [122930180, 122930736], [122930823, 122930976], [122931300, 122931506], [122931827, 122932032]]
Promoter
Chrom Start End Description
chr11 122929404 122929443 CAGE_peak_7_at_HSPA8_5end
chr11 122930414 122930443 CAGE_peak_4_at_HSPA8_5end
chr11 122930448 122930465 CAGE_peak_14_at_HSPA8_5end
chr11 122930480 122930529 CAGE_peak_3_at_HSPA8_5end
chr11 122930640 122930668 CAGE_peak_10_at_HSPA8_5end
chr11 122931881 122931935 CAGE_peak_5_at_HSPA8_5end
chr11 122932835 122932852 CAGE_peak_1_at_HSPA8_5end
chr11 122933137 122933236 CAGE_peak_2_at_HSPA8_5end
chr11 122933691 122933706 CAGE_peak_16_at_HSPA8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I123082 123082899 123088713 1.51 [{'connected_gene': 'CLMP', 'score': 10.32}, {'connected_gene': 'BSX', 'score': 10.01}, {'connected_gene': 'JHY', 'score': 9.89}, {'connected_gene': 'PIR37092', 'score': 0.44}, {'connected_gene': 'GC11P123096', 'score': 0.44}, {'connected_gene': 'GC11P123097', 'score': 0.44}, {'connected_gene': 'HSPA8', 'score': 0.34}, {'connected_gene': 'LOC101929289', 'score': 0.34}]
chr11 GH11I123080 123079191 123079393 0.42 [{'connected_gene': 'CLMP', 'score': 2.9}, {'connected_gene': 'PIR37092', 'score': 0.37}, {'connected_gene': 'HSPA8', 'score': 0.37}, {'connected_gene': 'LOC101929289', 'score': 0.37}, {'connected_gene': 'GC11P123096', 'score': 0.37}, {'connected_gene': 'GC11P123097', 'score': 0.37}]
chr11 GH11I123068 123068356 123074166 1.51 [{'connected_gene': 'HSPA8', 'score': 0.44}, {'connected_gene': 'LOC101929289', 'score': 0.44}, {'connected_gene': 'PIR37092', 'score': 0.34}, {'connected_gene': 'GC11P123096', 'score': 0.34}, {'connected_gene': 'GC11P123097', 'score': 0.34}, {'connected_gene': 'CLMP', 'score': 0.13}]
chr11 GH11I123055 123055673 123066551 2.28 [{'connected_gene': 'PIR56485', 'score': 550.77}, {'connected_gene': 'PIR53037', 'score': 550.77}, {'connected_gene': 'GC11M123095', 'score': 550.77}, {'connected_gene': 'HSPA8', 'score': 550.77}, {'connected_gene': 'SNORD14C', 'score': 550.77}, {'connected_gene': 'LOC101929289', 'score': 550.77}, {'connected_gene': 'GC11M123091', 'score': 550.77}, {'connected_gene': 'ZNF202', 'score': 73.39}, {'connected_gene': 'CLMP', 'score': 12.22}, {'connected_gene': 'SNORD14E', 'score': 0.77}, {'connected_gene': 'GC11M123094', 'score': 0.77}, {'connected_gene': 'GC11M123093', 'score': 0.77}, {'connected_gene': 'SNORD14D', 'score': 0.77}]
chr11 GH11I123079 123079620 123080534 0.2 [{'connected_gene': 'PIR37092', 'score': 0.37}, {'connected_gene': 'HSPA8', 'score': 0.37}, {'connected_gene': 'LOC101929289', 'score': 0.37}, {'connected_gene': 'GC11P123096', 'score': 0.37}, {'connected_gene': 'GC11P123097', 'score': 0.37}, {'connected_gene': 'CLMP', 'score': 0.13}]

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