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
ENST00000368124 [[159141398, 159141643], [159159560, 159159662], [159161725, 159161866], [159162367, 159162520], [159163212, 159163350], [159163659, 159163830], [159166153, 159166244], [159166680, 159166850], [159169540, 159169666], [159170593, 159171802]] [[159141555, 159141643], [159159560, 159159662], [159161725, 159161866], [159162367, 159162520], [159163212, 159163350], [159163659, 159163830], [159166153, 159166244], [159166680, 159166850], [159169540, 159169666], [159170593, 159170712]]
ENST00000368125 [[159141398, 159141643], [159161725, 159161866], [159162367, 159162520], [159163212, 159163350], [159163659, 159163830], [159166153, 159166244], [159166680, 159166850], [159169540, 159169666], [159170593, 159173103]] [[159141555, 159141643], [159161725, 159161866], [159162367, 159162520], [159163212, 159163350], [159163659, 159163830], [159166153, 159166244], [159166680, 159166850], [159169540, 159169666], [159170593, 159170712]]
ENST00000416746 [[159141548, 159141643], [159161725, 159161866], [159162367, 159162520], [159163212, 159163350], [159163659, 159163692], [159166153, 159166244], [159166680, 159166740]] [[159141555, 159141643], [159161725, 159161866], [159162367, 159162520], [159163212, 159163350], [159163659, 159163692], [159166153, 159166244], [159166680, 159166740]]
ENST00000497636 [[159166631, 159166850], [159169540, 159169666], [159170593, 159171118]] None
NM_001127173 [[159141353, 159141643], [159161725, 159161866], [159162367, 159162520], [159163212, 159163350], [159163659, 159163830], [159166153, 159166244], [159166680, 159166850], [159169540, 159169666], [159170593, 159173103]] [[159141555, 159141643], [159161725, 159161866], [159162367, 159162520], [159163212, 159163350], [159163659, 159163830], [159166153, 159166244], [159166680, 159166850], [159169540, 159169666], [159170593, 159170712]]
NM_021189 [[159141353, 159141643], [159159560, 159159662], [159161725, 159161866], [159162367, 159162520], [159163212, 159163350], [159163659, 159163830], [159166153, 159166244], [159166680, 159166850], [159169540, 159169666], [159170593, 159173103]] [[159141555, 159141643], [159159560, 159159662], [159161725, 159161866], [159162367, 159162520], [159163212, 159163350], [159163659, 159163830], [159166153, 159166244], [159166680, 159166850], [159169540, 159169666], [159170593, 159170712]]
NM_001346510 [[159141548, 159141643], [159161725, 159161866], [159162367, 159162520], [159163212, 159163350], [159163659, 159163692], [159166153, 159166244], [159166680, 159166850], [159169540, 159169666], [159170593, 159173103]] [[159141555, 159141643], [159161725, 159161866], [159162367, 159162520], [159163212, 159163350], [159163659, 159163692], [159166153, 159166244], [159166680, 159166850], [159169540, 159169666], [159170593, 159170712]]
Promoter
Chrom Start End Description
chr1 159141397 159141412 CAGE_peak_1_at_CADM3_5end
chr1 159166704 159166717 CAGE_peak_5_at_CADM3_5end
chr1 159166772 159166798 CAGE_peak_2_at_CADM3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I159160 159160931 159162079 0.96 [{'connected_gene': 'AIM2', 'score': 5.03}, {'connected_gene': 'CADM3', 'score': 0.39}]
chr1 GH01I159211 159211201 159211600 0.67 [{'connected_gene': 'CADM3', 'score': 11.29}, {'connected_gene': 'AIM2', 'score': 11.08}, {'connected_gene': 'OR10J2P', 'score': 9.78}, {'connected_gene': 'FCER1A', 'score': 9.77}, {'connected_gene': 'OR10J3', 'score': 9.19}, {'connected_gene': 'DUSP23', 'score': 9.15}, {'connected_gene': 'ACKR1', 'score': 8.02}, {'connected_gene': 'CADM3-AS1', 'score': 0.77}, {'connected_gene': 'MPTX1', 'score': 0.2}]
chr1 GH01I159171 159171311 159171460 0.46 [{'connected_gene': 'CADM3', 'score': 550.77}, {'connected_gene': 'AIM2', 'score': 0.34}]
chr1 GH01I159174 159171491 159171640 0.93 [{'connected_gene': 'CADM3', 'score': 550.77}, {'connected_gene': 'AIM2', 'score': 0.34}]
chr1 GH01I159172 159172567 159173600 0.93 [{'connected_gene': 'CADM3', 'score': 556.75}, {'connected_gene': 'ACKR1', 'score': 17.61}, {'connected_gene': 'CADM3-AS1', 'score': 11.16}, {'connected_gene': 'AIM2', 'score': 11.15}, {'connected_gene': 'ENSG00000212161', 'score': 9.16}, {'connected_gene': 'OR10J3', 'score': 9.01}, {'connected_gene': 'OR6N1', 'score': 3.76}, {'connected_gene': 'OR6K3', 'score': 3.7}, {'connected_gene': 'FCER1A', 'score': 3.43}, {'connected_gene': 'OR6N2', 'score': 2.9}, {'connected_gene': 'OR10J5', 'score': 1.24}, {'connected_gene': 'RNA5SP60', 'score': 0.44}]
chr1 GH01I159173 159171791 159171940 0.46 [{'connected_gene': 'CADM3', 'score': 550.77}, {'connected_gene': 'RNA5SP60', 'score': 0.44}]
chr1 GH01I159881 159881288 159882982 1.61 [{'connected_gene': 'RPSAP18', 'score': 36.6}, {'connected_gene': 'ENSG00000272668', 'score': 32.19}, {'connected_gene': 'SNHG28', 'score': 31.7}, {'connected_gene': 'LOC100287049', 'score': 22.64}, {'connected_gene': 'SLAMF8', 'score': 12.57}, {'connected_gene': 'PIGM', 'score': 12.13}, {'connected_gene': 'DCAF8', 'score': 11.34}, {'connected_gene': 'CADM3', 'score': 11.13}, {'connected_gene': 'CADM3-AS1', 'score': 10.32}, {'connected_gene': 'COPA', 'score': 9.98}, {'connected_gene': 'VSIG8', 'score': 6.77}, {'connected_gene': 'SLAMF9', 'score': 5.45}, {'connected_gene': 'TAGLN2', 'score': 2.04}, {'connected_gene': 'ENSG00000256029', 'score': 0.44}, {'connected_gene': 'CFAP45', 'score': 0.37}, {'connected_gene': 'MIR4259', 'score': 0.37}]
chr1 GH01I159187 159187201 159189136 1.11 [{'connected_gene': 'RNA5SP60', 'score': 0.44}, {'connected_gene': 'CADM3', 'score': 0.37}, {'connected_gene': 'ACKR1', 'score': 0.37}]
chr1 GH01I159141 159141577 159142400 0.84 [{'connected_gene': 'GC01M159143', 'score': 550.77}, {'connected_gene': 'TRR-TCT4-1', 'score': 550.77}, {'connected_gene': 'OR6K3', 'score': 18.3}, {'connected_gene': 'OR6N1', 'score': 15.86}, {'connected_gene': 'FCER1A', 'score': 14.8}, {'connected_gene': 'CADM3', 'score': 12.17}, {'connected_gene': 'ACKR1', 'score': 11.31}, {'connected_gene': 'CADM3-AS1', 'score': 11.3}, {'connected_gene': 'OR6N2', 'score': 10.15}, {'connected_gene': 'OR10J5', 'score': 7.95}, {'connected_gene': 'AIM2', 'score': 6.7}, {'connected_gene': 'OR10J1', 'score': 3.04}]