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
ENST00000527884 [[19245609, 19246387], [19246767, 19247162], [19247278, 19247411], [19251000, 19251535], [19251787, 19251875], [19252177, 19252381], [19253780, 19253918], [19255906, 19256068], [19256290, 19256605], [19258860, 19259017], [19259400, 19259679], [19261653, 19261777], [19263043, 19263167]] [[19246204, 19246387], [19246767, 19247162], [19247278, 19247411], [19251000, 19251535], [19251787, 19251875], [19252177, 19252381], [19253780, 19253918], [19255906, 19256068], [19256290, 19256605], [19258860, 19259017], [19259400, 19259679], [19261653, 19261668]]
ENST00000250024 [[19246081, 19246387], [19246767, 19247162], [19247278, 19247411], [19251000, 19251535], [19251787, 19251875], [19252177, 19252381], [19253780, 19253918], [19255906, 19256068], [19256290, 19256605], [19258860, 19259017], [19259400, 19259679], [19261653, 19261777], [19262094, 19262498]] [[19246204, 19246387], [19246767, 19247162], [19247278, 19247411], [19251000, 19251535], [19251787, 19251875], [19252177, 19252381], [19253780, 19253918], [19255906, 19256068], [19256290, 19256605], [19258860, 19259017], [19259400, 19259679], [19261653, 19261668]]
ENST00000529188 [[19247066, 19247162], [19247278, 19247625]] None
ENST00000532666 [[19258893, 19259017], [19259400, 19259679], [19261653, 19261777], [19262953, 19263145]] [[19258893, 19259017], [19259400, 19259679], [19261653, 19261668]]
NM_024680 [[19245609, 19246387], [19246767, 19247162], [19247278, 19247411], [19251000, 19251535], [19251787, 19251875], [19252177, 19252381], [19253780, 19253918], [19255906, 19256068], [19256290, 19256605], [19258860, 19259017], [19259400, 19259679], [19261653, 19261777], [19262094, 19262507]] [[19246204, 19246387], [19246767, 19247162], [19247278, 19247411], [19251000, 19251535], [19251787, 19251875], [19252177, 19252381], [19253780, 19253918], [19255906, 19256068], [19256290, 19256605], [19258860, 19259017], [19259400, 19259679], [19261653, 19261668]]
NM_001256371 [[19245609, 19246387], [19246767, 19247162], [19247278, 19247411], [19251000, 19251535], [19251787, 19251875], [19252177, 19252381], [19253780, 19253918], [19255906, 19256068], [19256290, 19256605], [19258860, 19259017], [19259400, 19259679], [19261653, 19261777], [19262953, 19263167]] [[19246204, 19246387], [19246767, 19247162], [19247278, 19247411], [19251000, 19251535], [19251787, 19251875], [19252177, 19252381], [19253780, 19253918], [19255906, 19256068], [19256290, 19256605], [19258860, 19259017], [19259400, 19259679], [19261653, 19261668]]
NM_001256372 [[19245609, 19246387], [19246767, 19247162], [19247278, 19247411], [19251000, 19251535], [19251787, 19251875], [19252177, 19252381], [19253780, 19253918], [19255906, 19256068], [19256290, 19256605], [19258860, 19259017], [19259400, 19259679], [19261653, 19261777], [19263043, 19263202]] [[19246204, 19246387], [19246767, 19247162], [19247278, 19247411], [19251000, 19251535], [19251787, 19251875], [19252177, 19252381], [19253780, 19253918], [19255906, 19256068], [19256290, 19256605], [19258860, 19259017], [19259400, 19259679], [19261653, 19261668]]
Promoter
Chrom Start End Description
chr11 19262421 19262455 CAGE_peak_3_at_E2F8_5end
chr11 19262461 19262476 CAGE_peak_5_at_E2F8_5end
chr11 19262486 19262512 CAGE_peak_4_at_E2F8_5end
chr11 19263160 19263176 CAGE_peak_1_at_E2F8_5end
chr11 19263192 19263222 CAGE_peak_2_at_E2F8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I019198 19197946 19202859 1.44 [{'connected_gene': 'CSRP3', 'score': 550.39}, {'connected_gene': 'E2F8', 'score': 6.93}, {'connected_gene': 'ENSG00000255308', 'score': 0.77}]
chr11 GH11I019234 19234014 19234040 0.4 [{'connected_gene': 'E2F8', 'score': 0.44}, {'connected_gene': 'CSRP3', 'score': 0.34}, {'connected_gene': 'ENSG00000255308', 'score': 0.28}]
chr11 GH11I019235 19234269 19235288 0.31 [{'connected_gene': 'E2F8', 'score': 0.44}, {'connected_gene': 'CSRP3', 'score': 0.34}, {'connected_gene': 'ENSG00000255308', 'score': 0.28}]
chr11 GH11I019232 19232010 19233663 1 [{'connected_gene': 'E2F8', 'score': 0.44}, {'connected_gene': 'CSRP3', 'score': 0.34}, {'connected_gene': 'ENSG00000255308', 'score': 0.28}]
chr11 GH11I019206 19206385 19210096 0.71 [{'connected_gene': 'E2F8', 'score': 6.96}, {'connected_gene': 'CSRP3', 'score': 0.77}, {'connected_gene': 'ENSG00000255308', 'score': 0.39}]
chr11 GH11I019216 19216805 19220451 0.96 [{'connected_gene': 'E2F8', 'score': 19.21}, {'connected_gene': 'ENSG00000255308', 'score': 12.72}, {'connected_gene': 'ZDHHC13', 'score': 10.15}, {'connected_gene': 'CSRP3', 'score': 0.44}]
chr11 GH11I019236 19236180 19245260 2.42 [{'connected_gene': 'E2F8', 'score': 550.77}, {'connected_gene': 'SPTY2D1', 'score': 26.54}, {'connected_gene': 'ENSG00000256361', 'score': 12.67}, {'connected_gene': 'ENSG00000256588', 'score': 12.66}, {'connected_gene': 'TSG101', 'score': 11.34}, {'connected_gene': 'ZDHHC13', 'score': 10.67}, {'connected_gene': 'LOC105376580', 'score': 6.78}, {'connected_gene': 'CSRP3', 'score': 0.29}, {'connected_gene': 'ENSG00000255308', 'score': 0.26}]
chr11 GH11I019253 19253525 19254459 0.54 [{'connected_gene': 'ZDHHC13', 'score': 10.31}, {'connected_gene': 'PCNAP4', 'score': 4.71}, {'connected_gene': 'E2F8', 'score': 0.39}, {'connected_gene': 'ENSG00000255308', 'score': 0.22}]
chr11 GH11I019269 19269054 19269203 0.71 [{'connected_gene': 'PCNAP4', 'score': 0.44}, {'connected_gene': 'E2F8', 'score': 0.31}, {'connected_gene': 'ENSG00000255308', 'score': 0.19}]
chr11 GH11I019268 19268534 19268932 0.49 [{'connected_gene': 'PCNAP4', 'score': 0.44}, {'connected_gene': 'E2F8', 'score': 0.31}, {'connected_gene': 'ENSG00000255308', 'score': 0.19}]
chr11 GH11I019228 19228390 19230925 0.51 [{'connected_gene': 'LOC105376580', 'score': 4.73}, {'connected_gene': 'E2F8', 'score': 0.39}, {'connected_gene': 'CSRP3', 'score': 0.37}, {'connected_gene': 'ENSG00000255308', 'score': 0.29}]
chr11 GH11I019260 19260001 19260200 0.56 [{'connected_gene': 'LOC105376580', 'score': 5.81}, {'connected_gene': 'PCNAP4', 'score': 4.76}, {'connected_gene': 'E2F8', 'score': 0.37}, {'connected_gene': 'ENSG00000255308', 'score': 0.21}]
chr11 GH11I019220 19220814 19222368 0.71 [{'connected_gene': 'ENSG00000255308', 'score': 11.42}, {'connected_gene': 'ZDHHC13', 'score': 9.96}, {'connected_gene': 'CSRP3', 'score': 0.39}, {'connected_gene': 'E2F8', 'score': 0.34}]
chr11 GH11I019224 19224564 19226331 0.38 [{'connected_gene': 'ENSG00000255308', 'score': 11.39}, {'connected_gene': 'ZDHHC13', 'score': 10.23}, {'connected_gene': 'E2F8', 'score': 6.3}, {'connected_gene': 'CSRP3', 'score': 0.39}]

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