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
ENST00000398606 [[67351065, 67351315], [67351604, 67351640], [67351934, 67352041], [67352155, 67352243], [67352608, 67352712], [67353574, 67353682], [67353859, 67354131]] [[67351314, 67351315], [67351604, 67351640], [67351934, 67352041], [67352155, 67352243], [67352608, 67352712], [67353574, 67353682], [67353859, 67354048]]
ENST00000398603 [[67351212, 67351315], [67351604, 67351640], [67351934, 67352041], [67352155, 67352243], [67352608, 67352712], [67353859, 67354121]] [[67351314, 67351315], [67351604, 67351640], [67351934, 67352041], [67352155, 67352243], [67352608, 67352712], [67353859, 67354048]]
ENST00000494593 [[67351292, 67351315], [67351604, 67352712], [67353574, 67354124]] None
ENST00000464930 [[67351594, 67351640], [67351934, 67352041], [67352155, 67352243], [67352608, 67352712], [67353574, 67353682], [67353859, 67354125]] None
ENST00000476137 [[67351595, 67351640], [67351934, 67352041], [67352155, 67352243], [67352608, 67352712], [67353859, 67354120]] None
ENST00000489040 [[67351604, 67351640], [67351934, 67352041], [67352155, 67352535]] None
ENST00000498765 [[67351925, 67352041], [67352155, 67352243], [67352508, 67352712], [67353574, 67353682], [67353859, 67354075]] None
ENST00000467591 [[67352265, 67352712], [67353574, 67353682], [67353859, 67354040]] None
ENST00000495996 [[67353574, 67353744], [67353859, 67353910]] None
NM_000852 [[67351065, 67351315], [67351604, 67351640], [67351934, 67352041], [67352155, 67352243], [67352608, 67352712], [67353574, 67353682], [67353859, 67354124]] [[67351314, 67351315], [67351604, 67351640], [67351934, 67352041], [67352155, 67352243], [67352608, 67352712], [67353574, 67353682], [67353859, 67354048]]
Promoter
Chrom Start End Description
chr11 67351019 67351025 CAGE_peak_10_at_GSTP1_5end
chr11 67351142 67351153 CAGE_peak_4_at_GSTP1_5end
chr11 67351250 67351261 CAGE_peak_2_at_GSTP1_5end
chr11 67351274 67351293 CAGE_peak_1_at_GSTP1_5end
chr11 67351313 67351316 CAGE_peak_9_at_GSTP1_5end
chr11 67351585 67351617 CAGE_peak_6_at_GSTP1_5end
chr11 67351960 67351976 CAGE_peak_12_at_GSTP1_5end
chr11 67352151 67352174 CAGE_peak_8_at_GSTP1_5end
chr11 67352177 67352212 CAGE_peak_5_at_GSTP1_5end
chr11 67352543 67352552 CAGE_peak_19_at_GSTP1_5end
chr11 67352589 67352592 CAGE_peak_20_at_GSTP1_5end
chr11 67352594 67352692 CAGE_peak_3_at_GSTP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH11I067544 67544193 67545630 1.13 [{'connected_gene': 'PTPRCAP', 'score': 28.78}, {'connected_gene': 'ALDH3B2', 'score': 6.1}, {'connected_gene': 'FAM86C2P', 'score': 4.65}, {'connected_gene': 'GC11M067541', 'score': 0.77}, {'connected_gene': 'GSTP1', 'score': 0.28}]
chr11 GH11I067557 67557530 67560270 1.4 [{'connected_gene': 'PTPRCAP', 'score': 25.85}, {'connected_gene': 'ALDH3B2', 'score': 6.11}, {'connected_gene': 'NDUFV1', 'score': 4.4}, {'connected_gene': 'NUDT8', 'score': 4.17}, {'connected_gene': 'CDK2AP2', 'score': 2.51}, {'connected_gene': 'GC11M067541', 'score': 0.37}, {'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 GH11I067579 67579219 67589454 2.46 [{'connected_gene': 'GSTP1', 'score': 550.77}, {'connected_gene': 'ENSG00000255119', 'score': 39.0}, {'connected_gene': 'NUDT8', 'score': 36.19}, {'connected_gene': 'PTPRCAP', 'score': 24.66}, {'connected_gene': 'NDUFV1', 'score': 18.26}, {'connected_gene': 'C11orf72', 'score': 12.6}, {'connected_gene': 'DOC2GP', 'score': 12.56}, {'connected_gene': 'RHOD', 'score': 11.38}, {'connected_gene': 'LRP5', 'score': 10.2}, {'connected_gene': 'ALDH3B2', 'score': 6.44}, {'connected_gene': 'CDK2AP2', 'score': 6.2}, {'connected_gene': 'ACY3', 'score': 4.82}, {'connected_gene': 'FAM86C2P', 'score': 4.06}, {'connected_gene': 'GC11P067588', 'score': 0.77}, {'connected_gene': 'GC11M067584', 'score': 0.26}]