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
ENST00000423431 [[52738970, 52739174], [52740659, 52740719], [52740808, 52740895], [52741702, 52742173]] [[52740689, 52740719], [52740808, 52740895], [52741702, 52741828]]
ENST00000233025 [[52739651, 52740298], [52740659, 52740719], [52740808, 52740895], [52741702, 52742182]] [[52740061, 52740298], [52740659, 52740719], [52740808, 52740895], [52741702, 52741828]]
ENST00000602728 [[52740093, 52740298], [52740659, 52740719], [52740808, 52740895], [52741702, 52742182]] [[52740262, 52740298], [52740659, 52740719], [52740808, 52740895], [52741702, 52741828]]
ENST00000448693 [[52740124, 52740298], [52740659, 52740719], [52740808, 52741400]] None
ENST00000474945 [[52740158, 52740719], [52740808, 52740895], [52741702, 52742035]] None
NM_014041 [[52739856, 52740298], [52740659, 52740719], [52740808, 52740895], [52741702, 52742198]] [[52740061, 52740298], [52740659, 52740719], [52740808, 52740895], [52741702, 52741828]]
Promoter
Chrom Start End Description
chr3 52739845 52739914 CAGE_peak_2_at_SPCS1_5end
chr3 52740108 52740179 CAGE_peak_1_at_SPCS1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I052027 52027849 52036352 0.83 [{'connected_gene': 'NEK4', 'score': 10.03}, {'connected_gene': 'PARP3', 'score': 4.64}, {'connected_gene': 'ABHD14A', 'score': 4.6}, {'connected_gene': 'ITIH4', 'score': 4.23}, {'connected_gene': 'SPCS1', 'score': 3.95}, {'connected_gene': 'LOC105377088', 'score': 0.77}, {'connected_gene': 'GC03P052016', 'score': 0.37}]
chr3 GH03I052696 52696408 52697995 0.83 [{'connected_gene': 'PBRM1', 'score': 30.72}, {'connected_gene': 'ITIH1', 'score': 5.39}, {'connected_gene': 'ITIH3', 'score': 4.62}, {'connected_gene': 'GNL3', 'score': 4.45}, {'connected_gene': 'SNORD69', 'score': 0.77}, {'connected_gene': 'SPCS1', 'score': 0.44}, {'connected_gene': 'GLT8D1', 'score': 0.44}]
chr3 GH03I052703 52703448 52708025 2.26 [{'connected_gene': 'SPCS1', 'score': 550.77}, {'connected_gene': 'GLT8D1', 'score': 550.77}, {'connected_gene': 'PBRM1', 'score': 30.81}, {'connected_gene': 'RFT1', 'score': 4.56}]
chr3 GH03I052493 52493103 52493955 0.56 [{'connected_gene': 'STAB1', 'score': 550.77}, {'connected_gene': 'NEK4', 'score': 4.86}, {'connected_gene': 'SPCS1', 'score': 4.05}, {'connected_gene': 'PIR37247', 'score': 0.44}]

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