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
ENST00000379562 [[7792924, 7798105], [7801852, 7801953], [7804419, 7804519], [7805685, 7805754], [7808015, 7808066], [7811178, 7811308], [7816793, 7816854], [7817713, 7817762], [7820800, 7820982], [7822018, 7822141], [7822226, 7822270], [7825043, 7825138], [7829782, 7829944]] [[7798042, 7798105], [7801852, 7801953], [7804419, 7804519], [7805685, 7805754], [7808015, 7808066], [7811178, 7811308], [7816793, 7816854], [7817713, 7817762], [7820800, 7820982], [7822018, 7822141], [7822226, 7822270], [7825043, 7825138], [7829782, 7829896]]
ENST00000498098 [[7795187, 7795565], [7795914, 7796032], [7801852, 7801953], [7804419, 7804519], [7805685, 7805754], [7808015, 7808066]] [[7796026, 7796032], [7801852, 7801953], [7804419, 7804519], [7805685, 7805754], [7808015, 7808066]]
ENST00000535925 [[7795275, 7795562], [7795914, 7796032], [7801852, 7801953], [7804419, 7804519], [7805685, 7805754], [7808015, 7808066], [7811178, 7811308], [7816793, 7816854], [7817713, 7817762], [7820800, 7820982], [7822018, 7822141], [7822226, 7822270], [7825043, 7825138], [7829782, 7829990]] [[7796026, 7796032], [7801852, 7801953], [7804419, 7804519], [7805685, 7805754], [7808015, 7808066], [7811178, 7811308], [7816793, 7816854], [7817713, 7817762], [7820800, 7820982], [7822018, 7822141], [7822226, 7822270], [7825043, 7825138], [7829782, 7829896]]
ENST00000463666 [[7797776, 7798105], [7801852, 7801953], [7804419, 7804519], [7805685, 7805754], [7808015, 7808066], [7808298, 7808347]] None
ENST00000471320 [[7797797, 7798105], [7801852, 7801953], [7804419, 7804519], [7805685, 7805754], [7808015, 7808322]] None
ENST00000543003 [[7801233, 7801953], [7804419, 7804519], [7805685, 7805754], [7808015, 7808066], [7811178, 7811308], [7816793, 7816854], [7817713, 7817762], [7820800, 7820982], [7822018, 7822141], [7822226, 7822270], [7829782, 7829953]] [[7801786, 7801953], [7804419, 7804519], [7805685, 7805754], [7808015, 7808066], [7811178, 7811308], [7816793, 7816854], [7817713, 7817762], [7820800, 7820982], [7822018, 7822076]]
ENST00000460089 [[7803195, 7803410], [7804419, 7804519], [7805685, 7805754], [7808015, 7808066], [7811178, 7811308], [7816793, 7816841]] None
NM_012311 [[7792924, 7798105], [7801852, 7801953], [7804419, 7804519], [7805685, 7805754], [7808015, 7808066], [7811178, 7811308], [7816793, 7816854], [7817713, 7817762], [7820800, 7820982], [7822018, 7822141], [7822226, 7822270], [7825043, 7825138], [7829782, 7829990]] [[7798042, 7798105], [7801852, 7801953], [7804419, 7804519], [7805685, 7805754], [7808015, 7808066], [7811178, 7811308], [7816793, 7816854], [7817713, 7817762], [7820800, 7820982], [7822018, 7822141], [7822226, 7822270], [7825043, 7825138], [7829782, 7829896]]
NR_045609 [[7792924, 7795562], [7795914, 7796032], [7801852, 7801953], [7804419, 7804519], [7805685, 7805754], [7808015, 7808066], [7811178, 7811308], [7816793, 7816854], [7817713, 7817762], [7820800, 7820982], [7822018, 7822141], [7822226, 7822270], [7825043, 7825138], [7829782, 7829990]] None
Promoter
Chrom Start End Description
chr10 7829909 7829963 CAGE_peak_1_at_KIN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I007872 7872201 7872600 0.87 [{'connected_gene': 'TAF3', 'score': 10.83}, {'connected_gene': 'KIN', 'score': 9.89}, {'connected_gene': 'ATP5F1C', 'score': 5.23}, {'connected_gene': 'GC10P007866', 'score': 0.44}, {'connected_gene': 'GC10M007907', 'score': 0.26}]
chr10 GH10I007480 7480179 7486707 1.48 [{'connected_gene': 'SFMBT2', 'score': 9.53}, {'connected_gene': 'TAF3', 'score': 4.23}, {'connected_gene': 'KIN', 'score': 1.2}, {'connected_gene': 'GC10M007486', 'score': 0.77}, {'connected_gene': 'RNU6-535P', 'score': 0.77}, {'connected_gene': 'LOC105376388', 'score': 0.39}]
chr10 GH10I007406 7406729 7411687 2.47 [{'connected_gene': 'SFMBT2', 'score': 559.56}, {'connected_gene': 'KIN', 'score': 18.66}, {'connected_gene': 'TAF3', 'score': 1.27}, {'connected_gene': 'ENSG00000278982', 'score': 0.77}, {'connected_gene': 'GC10P007374', 'score': 0.29}]
chr10 GH10I007786 7786719 7790872 2.01 [{'connected_gene': 'ATP5F1C', 'score': 565.6}, {'connected_gene': 'KIN', 'score': 560.58}, {'connected_gene': 'ITIH2', 'score': 6.98}, {'connected_gene': 'GC10M007790', 'score': 0.44}]
chr10 GH10I008137 8137201 8138000 0.55 [{'connected_gene': 'GATA3', 'score': 13.47}, {'connected_gene': 'GATA3-AS1', 'score': 11.57}, {'connected_gene': 'ENSG00000232638', 'score': 11.56}, {'connected_gene': 'TAF3', 'score': 8.19}, {'connected_gene': 'KIN', 'score': 1.2}, {'connected_gene': 'PRPF38AP1', 'score': 0.34}, {'connected_gene': 'LOC105376395', 'score': 0.26}, {'connected_gene': 'GC10P008092', 'score': 0.25}, {'connected_gene': 'GC10M008036', 'score': 0.11}, {'connected_gene': 'GC10M008037', 'score': 0.11}]
chr10 GH10I008049 8049034 8065063 2.51 [{'connected_gene': 'GATA3', 'score': 555.85}, {'connected_gene': 'KIN', 'score': 65.97}, {'connected_gene': 'TAF3', 'score': 17.89}, {'connected_gene': 'SFMBT2', 'score': 9.94}, {'connected_gene': 'GATA3-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000232638', 'score': 0.44}, {'connected_gene': 'GC10P008092', 'score': 0.28}, {'connected_gene': 'GC10M008036', 'score': 0.07}, {'connected_gene': 'GC10M008037', 'score': 0.07}]
chr10 GH10I008043 8043638 8043787 0.49 [{'connected_gene': 'GATA3', 'score': 550.77}, {'connected_gene': 'KIN', 'score': 18.68}, {'connected_gene': 'GC10P008041', 'score': 0.77}, {'connected_gene': 'GC10M008036', 'score': 0.07}, {'connected_gene': 'GC10M008037', 'score': 0.07}]
chr10 GH10I007026 7026893 7031285 1.38 [{'connected_gene': 'KIN', 'score': 19.53}, {'connected_gene': 'RBM17', 'score': 11.36}, {'connected_gene': 'GC10M006973', 'score': 0.37}, {'connected_gene': 'LOC105376386', 'score': 0.2}, {'connected_gene': 'LOC105376387', 'score': 0.16}, {'connected_gene': 'GC10P006679', 'score': 0.05}]
chr10 GH10I008702 8702010 8703639 0.92 [{'connected_gene': 'KIN', 'score': 38.51}, {'connected_gene': 'TAF3', 'score': 10.39}, {'connected_gene': 'GC10P008711', 'score': 0.44}, {'connected_gene': 'GC10M008656', 'score': 0.25}, {'connected_gene': 'RNA5SP299', 'score': 0.25}, {'connected_gene': 'LOC105376400', 'score': 0.05}]
chr10 GH10I007608 7608902 7611671 1.19 [{'connected_gene': 'KIN', 'score': 19.6}, {'connected_gene': 'ITIH5', 'score': 10.88}, {'connected_gene': 'GC10M007594', 'score': 0.44}]
chr10 GH10I007229 7229779 7235664 1.17 [{'connected_gene': 'KIN', 'score': 16.18}, {'connected_gene': 'SFMBT2', 'score': 4.69}, {'connected_gene': 'ITIH2', 'score': 1.49}, {'connected_gene': 'GC10P007174', 'score': 0.22}, {'connected_gene': 'COX6CP17', 'score': 0.21}]
chr10 GH10I007767 7767148 7767818 0.31 [{'connected_gene': 'KIN', 'score': 12.71}, {'connected_gene': 'ATP5F1C', 'score': 12.71}, {'connected_gene': 'GC10P007759', 'score': 0.44}]
chr10 GH10I008080 8080520 8083029 0.49 [{'connected_gene': 'KIN', 'score': 21.45}, {'connected_gene': 'GATA3-AS1', 'score': 12.45}, {'connected_gene': 'ENSG00000232638', 'score': 12.43}, {'connected_gene': 'GATA3', 'score': 12.42}, {'connected_gene': 'GC10P008092', 'score': 0.39}, {'connected_gene': 'GC10M008036', 'score': 0.08}, {'connected_gene': 'GC10M008037', 'score': 0.08}]
chr10 GH10I007354 7354370 7355428 1.29 [{'connected_gene': 'KIN', 'score': 13.89}, {'connected_gene': 'GC10P007374', 'score': 0.37}, {'connected_gene': 'COX6CP17', 'score': 0.22}, {'connected_gene': 'SFMBT2', 'score': 0.22}]
chr10 GH10I008726 8726158 8726307 0.82 [{'connected_gene': 'KIN', 'score': 16.18}, {'connected_gene': 'ENSG00000270234', 'score': 0.77}, {'connected_gene': 'GC10P008749', 'score': 0.34}, {'connected_gene': 'LOC105376400', 'score': 0.05}]
chr10 GH10I008112 8112204 8114811 0.62 [{'connected_gene': 'KIN', 'score': 16.21}, {'connected_gene': 'LOC105376395', 'score': 0.37}, {'connected_gene': 'GC10P008092', 'score': 0.34}, {'connected_gene': 'PRPF38AP1', 'score': 0.25}, {'connected_gene': 'GC10M008036', 'score': 0.1}, {'connected_gene': 'GC10M008037', 'score': 0.1}]
chr10 GH10I007172 7172484 7173742 0.49 [{'connected_gene': 'GC10P007174', 'score': 550.77}, {'connected_gene': 'KIN', 'score': 14.76}, {'connected_gene': 'GC10M007155', 'score': 0.77}, {'connected_gene': 'SFMBT2', 'score': 0.07}]