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
ENST00000334128 [[183749331, 183749359], [183752844, 183753010], [183754156, 183754328], [183755808, 183756061], [183756196, 183756412], [183756533, 183757157]] [[183754187, 183754328], [183755808, 183756061], [183756196, 183756412], [183756533, 183756763]]
ENST00000428798 [[183749529, 183749595], [183752965, 183753010], [183753802, 183753888], [183754162, 183754332], [183754535, 183754684], [183755808, 183756061], [183756196, 183756412], [183756533, 183756763]] [[183749529, 183749595], [183752965, 183753010], [183753802, 183753888], [183754162, 183754332], [183754535, 183754684], [183755808, 183756061], [183756196, 183756412], [183756533, 183756763]]
ENST00000382489 [[183750618, 183750845], [183752953, 183752983], [183753765, 183753888], [183754162, 183754293], [183754535, 183754684], [183755808, 183756027], [183756156, 183756412], [183756533, 183757072]] [[183750618, 183750845], [183752953, 183752983], [183753765, 183753888], [183754162, 183754293], [183754535, 183754684], [183755808, 183756027], [183756156, 183756412], [183756533, 183756763]]
ENST00000453435 [[183752891, 183753010], [183755808, 183756061], [183756196, 183756412], [183756533, 183756988]] [[183753007, 183753010], [183755808, 183756061], [183756196, 183756412], [183756533, 183756763]]
NM_182537 [[183749331, 183749359], [183752844, 183753010], [183754156, 183754328], [183755808, 183756061], [183756196, 183756412], [183756533, 183757157]] [[183754187, 183754328], [183755808, 183756061], [183756196, 183756412], [183756533, 183756763]]
NM_001145143 [[183749529, 183749595], [183752965, 183753010], [183753802, 183753888], [183754162, 183754332], [183754535, 183754684], [183755808, 183756061], [183756196, 183756412], [183756533, 183757157]] [[183749529, 183749595], [183752965, 183753010], [183753802, 183753888], [183754162, 183754332], [183754535, 183754684], [183755808, 183756061], [183756196, 183756412], [183756533, 183756763]]
NM_001163646 [[183750618, 183750845], [183752953, 183752983], [183753765, 183753888], [183754162, 183754293], [183754535, 183754684], [183755808, 183756027], [183756156, 183756412], [183756533, 183757157]] [[183750618, 183750845], [183752953, 183752983], [183753765, 183753888], [183754162, 183754293], [183754535, 183754684], [183755808, 183756027], [183756156, 183756412], [183756533, 183756763]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I183532 183532047 183534792 1.65 [{'connected_gene': 'KLHL6', 'score': 19.74}, {'connected_gene': 'ENSG00000199363', 'score': 10.52}, {'connected_gene': 'ENSG00000251730', 'score': 10.52}, {'connected_gene': 'SNORA63D', 'score': 10.51}, {'connected_gene': 'ENSG00000253092', 'score': 10.51}, {'connected_gene': 'LINC00888', 'score': 10.5}, {'connected_gene': 'EIF4G1', 'score': 10.26}, {'connected_gene': 'YEATS2', 'score': 10.11}, {'connected_gene': 'B3GNT5', 'score': 3.97}, {'connected_gene': 'HTR3D', 'score': 2.38}, {'connected_gene': 'KLHL24', 'score': 2.36}, {'connected_gene': 'KLHL6-AS1', 'score': 0.37}, {'connected_gene': 'ENSG00000271682', 'score': 0.19}]
chr3 GH03I184531 184531609 184531849 0.22 [{'connected_gene': 'CHRD', 'score': 12.08}, {'connected_gene': 'THPO', 'score': 12.08}, {'connected_gene': 'LINC01840', 'score': 11.45}, {'connected_gene': 'EPHB3', 'score': 11.43}, {'connected_gene': 'LINC02054', 'score': 11.12}, {'connected_gene': 'SNORD66', 'score': 10.56}, {'connected_gene': 'EIF4G1', 'score': 10.56}, {'connected_gene': 'FAM131A', 'score': 10.39}, {'connected_gene': 'HTR3E', 'score': 4.89}, {'connected_gene': 'HTR3D', 'score': 1.89}, {'connected_gene': 'LINC01839', 'score': 0.34}]
chr3 GH03I184052 184052967 184053026 0.5 [{'connected_gene': 'HTR3C', 'score': 550.77}, {'connected_gene': 'HTR3D', 'score': 0.34}]
chr3 GH03I184472 184472314 184474024 0.84 [{'connected_gene': 'FAM131A', 'score': 12.12}, {'connected_gene': 'LINC02054', 'score': 11.46}, {'connected_gene': 'LINC01840', 'score': 10.7}, {'connected_gene': 'EIF4G1', 'score': 10.56}, {'connected_gene': 'LINC01839', 'score': 5.76}, {'connected_gene': 'HTR3D', 'score': 1.38}, {'connected_gene': 'LOC105374252', 'score': 0.37}]
chr3 GH03I184005 184005573 184007200 1.11 [{'connected_gene': 'ABCC5-AS1', 'score': 550.77}, {'connected_gene': 'ABCC5', 'score': 13.99}, {'connected_gene': 'EEF1A1P8', 'score': 11.23}, {'connected_gene': 'HTR3D', 'score': 11.21}, {'connected_gene': 'HTR3C', 'score': 10.07}, {'connected_gene': 'PARL', 'score': 9.73}, {'connected_gene': 'RPSAP31', 'score': 9.73}, {'connected_gene': 'EIF2B5', 'score': 9.36}, {'connected_gene': 'CAMK2N2', 'score': 8.97}, {'connected_gene': 'MAP6D1', 'score': 5.03}]
chr3 GH03I184008 184008001 184008200 0.43 [{'connected_gene': 'ABCC5-AS1', 'score': 550.77}, {'connected_gene': 'ABCC5', 'score': 13.93}, {'connected_gene': 'HTR3D', 'score': 11.07}, {'connected_gene': 'HTR3C', 'score': 10.21}, {'connected_gene': 'EIF2B5', 'score': 9.7}, {'connected_gene': 'CAMK2N2', 'score': 9.56}]
chr3 GH03I184002 184002503 184005296 0.58 [{'connected_gene': 'ABCC5', 'score': 13.73}, {'connected_gene': 'EEF1A1P8', 'score': 11.2}, {'connected_gene': 'HTR3D', 'score': 11.17}, {'connected_gene': 'CAMK2N2', 'score': 8.65}, {'connected_gene': 'MAP6D1', 'score': 5.51}, {'connected_gene': 'ABCC5-AS1', 'score': 0.77}, {'connected_gene': 'PIR62380', 'score': 0.18}]