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
ENST00000335385 [[67398773, 67399365], [67399788, 67399883], [67400073, 67400141], [67400418, 67400574], [67401659, 67401831], [67402286, 67402388], [67402466, 67402734], [67406936, 67407031]] [[67399075, 67399365], [67399788, 67399883], [67400073, 67400141], [67400418, 67400574], [67401659, 67401831], [67402286, 67402388], [67402466, 67402734], [67406936, 67406943]]
NM_005995 [[67398773, 67399365], [67399788, 67399883], [67400073, 67400141], [67400418, 67400574], [67401659, 67401831], [67402286, 67402388], [67402466, 67402734], [67406936, 67407031]] [[67399075, 67399365], [67399788, 67399883], [67400073, 67400141], [67400418, 67400574], [67401659, 67401831], [67402286, 67402388], [67402466, 67402734], [67406936, 67406943]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I067646 67646132 67649519 1.74 [{'connected_gene': 'ACY3', 'score': 557.59}, {'connected_gene': 'ALDH3B2', 'score': 27.26}, {'connected_gene': 'UNC93B1', 'score': 12.59}, {'connected_gene': 'RPL37P2', 'score': 12.07}, {'connected_gene': 'NUDT8', 'score': 5.74}, {'connected_gene': 'TBX10', 'score': 0.44}]
chr11 GH11I067649 67649690 67649839 0.72 [{'connected_gene': 'ACY3', 'score': 550.77}, {'connected_gene': 'ALDH3B2', 'score': 32.04}, {'connected_gene': 'RPL37P2', 'score': 12.09}, {'connected_gene': 'NUDT8', 'score': 5.42}, {'connected_gene': 'TBX10', 'score': 0.39}]
chr11 GH11I067650 67650001 67651389 1.84 [{'connected_gene': 'ACY3', 'score': 550.77}, {'connected_gene': 'ALDH3B2', 'score': 31.89}, {'connected_gene': 'RPL37P2', 'score': 12.09}, {'connected_gene': 'NUDT8', 'score': 5.35}, {'connected_gene': 'TBX10', 'score': 0.39}]
chr11 GH11I067560 67560925 67564843 1.34 [{'connected_gene': 'PTPRCAP', 'score': 24.9}, {'connected_gene': 'AIP', 'score': 17.07}, {'connected_gene': 'KMT5B', 'score': 16.02}, {'connected_gene': 'NDUFV1', 'score': 15.88}, {'connected_gene': 'ENSG00000258297', 'score': 14.98}, {'connected_gene': 'PPP6R3', 'score': 14.64}, {'connected_gene': 'RBM14', 'score': 13.24}, {'connected_gene': 'CABP2', 'score': 11.76}, {'connected_gene': 'C11orf72', 'score': 11.73}, {'connected_gene': 'ENSG00000255119', 'score': 11.73}, {'connected_gene': 'DOC2GP', 'score': 11.7}, {'connected_gene': 'NUDT8', 'score': 11.32}, {'connected_gene': 'TBX10', 'score': 11.3}, {'connected_gene': 'ACY3', 'score': 11.11}, {'connected_gene': 'ENSG00000227834', 'score': 11.1}, {'connected_gene': 'RBM4', 'score': 9.95}, {'connected_gene': 'ALDH3B2', 'score': 6.11}, {'connected_gene': 'CDK2AP2', 'score': 4.69}, {'connected_gene': 'GC11M067541', 'score': 0.34}, {'connected_gene': 'GSTP1', 'score': 0.34}]
chr11 GH11I067572 67572290 67573729 1.35 [{'connected_gene': 'NDUFV1', 'score': 16.2}, {'connected_gene': 'RBM14', 'score': 13.36}, {'connected_gene': 'RBM4B', 'score': 12.61}, {'connected_gene': 'C11orf72', 'score': 12.05}, {'connected_gene': 'ENSG00000255119', 'score': 12.05}, {'connected_gene': 'DOC2GP', 'score': 12.01}, {'connected_gene': 'NUDT8', 'score': 11.98}, {'connected_gene': 'TBX10', 'score': 11.97}, {'connected_gene': 'KDM2A', 'score': 11.67}, {'connected_gene': 'PPP6R3', 'score': 11.64}, {'connected_gene': 'AIP', 'score': 11.55}, {'connected_gene': 'ACY3', 'score': 11.13}, {'connected_gene': 'ENSG00000227834', 'score': 11.12}, {'connected_gene': 'RBM4', 'score': 10.24}, {'connected_gene': 'KMT5B', 'score': 10.06}, {'connected_gene': 'ALDH3B2', 'score': 6.12}, {'connected_gene': 'GSTP1', 'score': 0.39}, {'connected_gene': 'GC11M067541', 'score': 0.29}]
chr11 GH11I067640 67640070 67640219 0.83 [{'connected_gene': 'TBX10', 'score': 550.77}, {'connected_gene': 'RBM4B', 'score': 13.67}, {'connected_gene': 'KMT5B', 'score': 13.53}, {'connected_gene': 'ENSG00000258297', 'score': 10.72}, {'connected_gene': 'ACY3', 'score': 0.39}]
chr11 GH11I067627 67627004 67635571 2.28 [{'connected_gene': 'NUDT8', 'score': 576.7}, {'connected_gene': 'DOC2GP', 'score': 23.88}, {'connected_gene': 'ENSG00000255119', 'score': 23.38}, {'connected_gene': 'ANKRD13D', 'score': 10.26}, {'connected_gene': 'CDK2AP2', 'score': 6.14}, {'connected_gene': 'NDUFV1', 'score': 4.74}, {'connected_gene': 'TBX10', 'score': 0.44}]
chr11 GH11I067667 67667713 67668587 0.59 [{'connected_gene': 'ALDH3B2', 'score': 23.44}, {'connected_gene': 'TBX10', 'score': 12.3}, {'connected_gene': 'NUDT8', 'score': 12.26}, {'connected_gene': 'GC11M067673', 'score': 0.44}, {'connected_gene': 'GC11P067662', 'score': 0.44}]
chr11 GH11I067600 67600279 67601000 1.27 [{'connected_gene': 'ENSG00000255119', 'score': 25.05}, {'connected_gene': 'NUDT8', 'score': 11.98}, {'connected_gene': 'TBX10', 'score': 11.94}, {'connected_gene': 'GC11P067588', 'score': 0.39}, {'connected_gene': 'GC11M067584', 'score': 0.31}]