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
ENST00000371697 [[92671852, 92672733], [92675299, 92675398], [92675538, 92675637], [92675927, 92676026], [92677488, 92677587], [92678621, 92678729], [92678887, 92679025], [92679925, 92680105], [92680757, 92681033]] [[92672622, 92672733], [92675299, 92675398], [92675538, 92675637], [92675927, 92676026], [92677488, 92677587], [92678621, 92678729], [92678887, 92679025], [92679925, 92680105], [92680757, 92680784]]
NM_014391 [[92671856, 92672733], [92675299, 92675398], [92675538, 92675637], [92675927, 92676026], [92677488, 92677587], [92678621, 92678729], [92678887, 92679025], [92679925, 92680105], [92680757, 92681032]] [[92672622, 92672733], [92675299, 92675398], [92675538, 92675637], [92675927, 92676026], [92677488, 92677587], [92678621, 92678729], [92678887, 92679025], [92679925, 92680105], [92680757, 92680784]]
Promoter
Chrom Start End Description
chr10 92680836 92680853 CAGE_peak_1_at_ANKRD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I090911 90911184 90913273 1.17 [{'connected_gene': 'HTR7', 'score': 15.76}, {'connected_gene': 'RPP30', 'score': 10.87}, {'connected_gene': 'GC10M090914', 'score': 0.77}, {'connected_gene': 'ANKRD1', 'score': 0.44}, {'connected_gene': 'PIR41318', 'score': 0.39}]
chr10 GH10I091340 91340524 91342413 0.76 [{'connected_gene': 'ANKRD1', 'score': 9.56}, {'connected_gene': 'RNU6-740P', 'score': 9.56}, {'connected_gene': 'GC10P091296', 'score': 0.26}, {'connected_gene': 'HECTD2', 'score': 0.2}, {'connected_gene': 'GC10M091340', 'score': 0.17}, {'connected_gene': 'HECTD2-AS1', 'score': 0.06}]
chr10 GH10I090997 90997680 91000493 1.18 [{'connected_gene': 'ANKRD1', 'score': 10.95}, {'connected_gene': 'RNU6-740P', 'score': 10.95}, {'connected_gene': 'ENSG00000225519', 'score': 8.73}, {'connected_gene': 'LOC105378431', 'score': 0.34}]
chr10 GH10I091408 91408912 91411948 2.03 [{'connected_gene': 'HECTD2', 'score': 550.77}, {'connected_gene': 'RPP30', 'score': 11.65}, {'connected_gene': 'ANKRD1', 'score': 4.81}, {'connected_gene': 'GC10M091340', 'score': 0.34}, {'connected_gene': 'HECTD2-AS1', 'score': 0.08}]
chr10 GH10I091033 91033621 91035345 0.77 [{'connected_gene': 'LOC105378430', 'score': 550.77}, {'connected_gene': 'ANKRD1', 'score': 10.61}, {'connected_gene': 'RNU6-740P', 'score': 10.61}, {'connected_gene': 'LINC00502', 'score': 0.39}]
chr10 GH10I090884 90884003 90886414 0.43 [{'connected_gene': 'PIR59702', 'score': 550.77}, {'connected_gene': 'HTR7', 'score': 10.76}, {'connected_gene': 'ANKRD1', 'score': 10.41}, {'connected_gene': 'RNU6-740P', 'score': 10.41}, {'connected_gene': 'PIR41318', 'score': 0.39}, {'connected_gene': 'RPP30', 'score': 0.39}]
chr10 GH10I090914 90914878 90922751 1.88 [{'connected_gene': 'GC10M090914', 'score': 550.77}, {'connected_gene': 'ANKRD1', 'score': 550.77}, {'connected_gene': 'HTR7', 'score': 6.43}, {'connected_gene': 'HECTD2', 'score': 4.69}, {'connected_gene': 'RNU6-740P', 'score': 0.77}]
chr10 GH10I090964 90964010 90966372 0.56 [{'connected_gene': 'ENSG00000225519', 'score': 18.89}, {'connected_gene': 'ANKRD1', 'score': 10.92}, {'connected_gene': 'RNU6-740P', 'score': 10.92}, {'connected_gene': 'RPP30', 'score': 5.33}, {'connected_gene': 'GC10M090939', 'score': 0.39}]
chr10 GH10I090992 90992911 90995124 0.65 [{'connected_gene': 'ENSG00000225519', 'score': 555.01}, {'connected_gene': 'ANKRD1', 'score': 10.96}, {'connected_gene': 'RNU6-740P', 'score': 10.96}, {'connected_gene': 'XLOC_008559', 'score': 0.39}]
chr10 GH10I090976 90976024 90981597 0.62 [{'connected_gene': 'GC10M090939', 'score': 550.77}, {'connected_gene': 'ENSG00000225519', 'score': 11.11}, {'connected_gene': 'ANKRD1', 'score': 10.7}, {'connected_gene': 'RNU6-740P', 'score': 10.7}, {'connected_gene': 'XLOC_008559', 'score': 0.77}]
chr10 GH10I090974 90974573 90975845 0.31 [{'connected_gene': 'ENSG00000225519', 'score': 17.62}, {'connected_gene': 'ANKRD1', 'score': 10.8}, {'connected_gene': 'RNU6-740P', 'score': 10.8}, {'connected_gene': 'GC10M090939', 'score': 0.77}]
chr10 GH10I090959 90959393 90961793 1.09 [{'connected_gene': 'ENSG00000225519', 'score': 17.43}, {'connected_gene': 'ANKRD1', 'score': 11.29}, {'connected_gene': 'RNU6-740P', 'score': 11.29}, {'connected_gene': 'GC10M090939', 'score': 0.37}]
chr10 GH10I090971 90971666 90974350 0.74 [{'connected_gene': 'ENSG00000225519', 'score': 18.27}, {'connected_gene': 'ANKRD1', 'score': 10.8}, {'connected_gene': 'RNU6-740P', 'score': 10.8}, {'connected_gene': 'GC10M090939', 'score': 0.77}]
chr10 GH10I090945 90945129 90946260 0.2 [{'connected_gene': 'ENSG00000225519', 'score': 18.82}, {'connected_gene': 'ANKRD1', 'score': 11.76}, {'connected_gene': 'RNU6-740P', 'score': 11.76}, {'connected_gene': 'GC10M090939', 'score': 0.29}]
chr10 GH10I091197 91197918 91203285 1.02 [{'connected_gene': 'PIR60971', 'score': 550.77}, {'connected_gene': 'NUDT9P1', 'score': 7.15}, {'connected_gene': 'ANKRD1', 'score': 5.45}, {'connected_gene': 'PCGF5', 'score': 0.28}]
chr10 GH10I090956 90956281 90957576 0.2 [{'connected_gene': 'ENSG00000225519', 'score': 17.42}, {'connected_gene': 'RNU6-740P', 'score': 11.31}, {'connected_gene': 'ANKRD1', 'score': 11.29}, {'connected_gene': 'GC10M090939', 'score': 0.34}]