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
ENST00000480753 [[182756559, 182757004], [182757341, 182759422]] None
ENST00000431877 [[182756614, 182757004], [182757341, 182757387], [182760756, 182760806], [182761634, 182761691], [182763606, 182763646], [182763740, 182763839], [182765422, 182765631], [182766492, 182767193], [182774625, 182774698], [182778571, 182778660], [182779942, 182781154], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182785323, 182785389], [182786674, 182787139], [182792887, 182793005], [182794287, 182795465]] [[182756793, 182757004], [182757341, 182757387], [182760756, 182760806], [182761634, 182761691], [182763606, 182763646], [182763740, 182763839], [182765422, 182765631], [182766492, 182767193], [182774625, 182774698], [182778571, 182778660], [182779942, 182781154], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182785323, 182785389], [182786674, 182787139], [182792887, 182792992]]
ENST00000320370 [[182756681, 182757004], [182757341, 182757387], [182760756, 182760806], [182761634, 182761691], [182763606, 182763646], [182763740, 182763839], [182765422, 182765631], [182766492, 182767193], [182774625, 182774698], [182778571, 182778660], [182779942, 182781154], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182785323, 182785389], [182786674, 182787139], [182794287, 182795465]] [[182756793, 182757004], [182757341, 182757387], [182760756, 182760806], [182761634, 182761691], [182763606, 182763646], [182763740, 182763839], [182765422, 182765631], [182766492, 182767193], [182774625, 182774698], [182778571, 182778660], [182779942, 182781154], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182785323, 182785389], [182786674, 182787139], [182794287, 182794383]]
ENST00000409001 [[182756711, 182757004], [182757341, 182757387], [182760756, 182760806], [182761634, 182761691], [182763606, 182763646], [182763740, 182763839], [182765422, 182765631], [182766492, 182767193], [182774625, 182774698], [182778571, 182778660], [182779942, 182781154], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182786674, 182787139], [182792887, 182793005], [182794287, 182795465]] [[182756793, 182757004], [182757341, 182757387], [182760756, 182760806], [182761634, 182761691], [182763606, 182763646], [182763740, 182763839], [182765422, 182765631], [182766492, 182767193], [182774625, 182774698], [182778571, 182778660], [182779942, 182781154], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182786674, 182787139], [182792887, 182792992]]
ENST00000428267 [[182756922, 182757004], [182757341, 182757387], [182761634, 182761691], [182763606, 182763646], [182763740, 182763839], [182765422, 182765631], [182766492, 182767193], [182774625, 182774698], [182778571, 182778660], [182779942, 182781154], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182786674, 182787139], [182792887, 182793005], [182794287, 182794511]] [[182763795, 182763839], [182765422, 182765631], [182766492, 182767193], [182774625, 182774698], [182778571, 182778660], [182779942, 182781154], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182786674, 182787139], [182792887, 182792992]]
ENST00000454579 [[182756922, 182757004], [182757341, 182757387], [182761634, 182761691], [182763606, 182763646], [182763740, 182763839], [182765422, 182765631], [182766492, 182767193], [182774625, 182774698], [182778571, 182778660], [182779942, 182781154], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182786674, 182787139], [182792887, 182793005], [182794287, 182794511]] [[182761649, 182761691], [182763606, 182763646], [182763740, 182763799]]
ENST00000440623 [[182756922, 182757004], [182757341, 182757387], [182760756, 182760806], [182761634, 182761691], [182763606, 182763646], [182763740, 182763839], [182765422, 182765631], [182766492, 182767193], [182774625, 182774698], [182778571, 182778660], [182779942, 182781732], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182785323, 182785389], [182786674, 182787139], [182792887, 182793005], [182794287, 182795465]] [[182761649, 182761691], [182763606, 182763646], [182763740, 182763799]]
ENST00000495248 [[182757079, 182757105], [182757341, 182757387], [182760756, 182760806], [182761634, 182761691], [182763606, 182763646]] None
ENST00000470129 [[182757358, 182757387], [182758337, 182758577]] None
ENST00000416081 [[182758119, 182758472], [182760756, 182760806], [182761634, 182761691], [182763606, 182763646], [182763740, 182763839], [182765422, 182765631], [182766492, 182767193], [182774625, 182774698], [182778571, 182778660], [182779942, 182781154], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182785323, 182785389], [182786674, 182787139], [182792887, 182793005], [182794287, 182795465]] [[182761649, 182761691], [182763606, 182763646], [182763740, 182763799]]
ENST00000470654 [[182763585, 182763646], [182763740, 182763839], [182765422, 182765631], [182766492, 182766701]] None
ENST00000491720 [[182765587, 182765631], [182766492, 182767193], [182774625, 182774698], [182778571, 182778660], [182779942, 182783402], [182783481, 182783609], [182784022, 182784173], [182785323, 182785389], [182786674, 182787139], [182792887, 182793005], [182794287, 182795465]] None
ENST00000409136 [[182775231, 182775356], [182778571, 182778660], [182779942, 182781154], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182785323, 182785389], [182786674, 182787139], [182792887, 182793005], [182794287, 182795465]] [[182775343, 182775356], [182778571, 182778660], [182779942, 182781154], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182785323, 182785389], [182786674, 182787139], [182792887, 182792992]]
ENST00000491866 [[182781448, 182781732], [182783049, 182783197], [182783324, 182783402], [182783481, 182783609], [182784022, 182784102]] None
ENST00000467172 [[182783587, 182783609], [182784022, 182784173], [182785323, 182785389], [182786674, 182787139], [182792887, 182792926], [182794287, 182794404]] None
ENST00000451836 [[182785332, 182785377], [182786674, 182787139], [182794287, 182794524]] [[182785332, 182785377], [182786674, 182787139], [182794287, 182794383]]
NM_001287505 [[182756442, 182757004], [182757341, 182759425]] [[182756793, 182757004], [182757341, 182757391]]
NM_001287504 [[182756442, 182757004], [182757341, 182757387], [182761634, 182761691], [182763606, 182763646], [182763740, 182763839], [182765422, 182765631], [182766492, 182767193], [182774625, 182774698], [182778571, 182778660], [182779942, 182781154], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182786674, 182787139], [182792887, 182793005], [182794287, 182795465]] [[182763795, 182763839], [182765422, 182765631], [182766492, 182767193], [182774625, 182774698], [182778571, 182778660], [182779942, 182781154], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182786674, 182787139], [182792887, 182792992]]
NM_001287503 [[182756442, 182757004], [182757341, 182757387], [182760756, 182760806], [182761634, 182761691], [182763606, 182763646], [182763740, 182763839], [182765422, 182765631], [182766492, 182767193], [182774625, 182774698], [182778571, 182778660], [182779942, 182781154], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182786674, 182787139], [182792887, 182793005], [182794287, 182795465]] [[182756793, 182757004], [182757341, 182757387], [182760756, 182760806], [182761634, 182761691], [182763606, 182763646], [182763740, 182763839], [182765422, 182765631], [182766492, 182767193], [182774625, 182774698], [182778571, 182778660], [182779942, 182781154], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182786674, 182787139], [182792887, 182792992]]
NM_006751 [[182756442, 182757004], [182757341, 182757387], [182760756, 182760806], [182761634, 182761691], [182763606, 182763646], [182763740, 182763839], [182765422, 182765631], [182766492, 182767193], [182774625, 182774698], [182778571, 182778660], [182779942, 182781154], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182785323, 182785389], [182786674, 182787139], [182794287, 182795465]] [[182756793, 182757004], [182757341, 182757387], [182760756, 182760806], [182761634, 182761691], [182763606, 182763646], [182763740, 182763839], [182765422, 182765631], [182766492, 182767193], [182774625, 182774698], [182778571, 182778660], [182779942, 182781154], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182785323, 182785389], [182786674, 182787139], [182794287, 182794383]]
NM_001130445 [[182756442, 182757004], [182757341, 182757387], [182760756, 182760806], [182761634, 182761691], [182763606, 182763646], [182763740, 182763839], [182765422, 182765631], [182766492, 182767193], [182774625, 182774698], [182778571, 182778660], [182779942, 182781154], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182785323, 182785389], [182786674, 182787139], [182792887, 182793005], [182794287, 182795465]] [[182756793, 182757004], [182757341, 182757387], [182760756, 182760806], [182761634, 182761691], [182763606, 182763646], [182763740, 182763839], [182765422, 182765631], [182766492, 182767193], [182774625, 182774698], [182778571, 182778660], [182779942, 182781154], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182785323, 182785389], [182786674, 182787139], [182792887, 182792992]]
NR_109843 [[182756442, 182757004], [182757341, 182757387], [182760756, 182760806], [182761634, 182761691], [182763606, 182763646], [182763740, 182763839], [182765422, 182765631], [182766492, 182767193], [182774625, 182774698], [182778571, 182778660], [182779942, 182781732], [182783324, 182783402], [182783481, 182783609], [182784022, 182784173], [182785323, 182785389], [182786674, 182787139], [182792887, 182793005], [182794287, 182795465]] None
Promoter
Chrom Start End Description
chr2 182756319 182756349 CAGE_peak_15_at_SSFA2_5end
chr2 182756425 182756462 CAGE_peak_5_at_SSFA2_5end
chr2 182756466 182756485 CAGE_peak_6_at_SSFA2_5end
chr2 182756497 182756540 CAGE_peak_3_at_SSFA2_5end
chr2 182756547 182756563 CAGE_peak_2_at_SSFA2_5end
chr2 182756575 182756591 CAGE_peak_9_at_SSFA2_5end
chr2 182756633 182756698 CAGE_peak_1_at_SSFA2_5end
chr2 182756701 182756720 CAGE_peak_7_at_SSFA2_5end
chr2 182756737 182756753 CAGE_peak_10_at_SSFA2_5end
chr2 182756779 182756790 CAGE_peak_18_at_SSFA2_5end
chr2 182756793 182756802 CAGE_peak_17_at_SSFA2_5end
chr2 182756867 182756886 CAGE_peak_8_at_SSFA2_5end
chr2 182756915 182756931 CAGE_peak_4_at_SSFA2_5end
chr2 182757234 182757245 CAGE_peak_31_at_SSFA2_5end
chr2 182757280 182757295 CAGE_peak_28_at_SSFA2_5end
chr2 182780498 182780507 CAGE_peak_14_at_SSFA2_5end
chr2 182781327 182781330 CAGE_peak_23_at_SSFA2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I181889 181889761 181901497 2.46 [{'connected_gene': 'SSFA2', 'score': 550.77}, {'connected_gene': 'PPP1R1C', 'score': 10.69}, {'connected_gene': 'ENSG00000260742', 'score': 0.77}]
chr2 GH02I181937 181937600 181937801 0.2 [{'connected_gene': 'SSFA2', 'score': 11.06}, {'connected_gene': 'RNU6ATAC19P', 'score': 10.47}, {'connected_gene': 'PPP1R1C', 'score': 0.37}]
chr2 GH02I181774 181774561 181775323 0.89 [{'connected_gene': 'SSFA2', 'score': 11.17}, {'connected_gene': 'RNU6ATAC19P', 'score': 0.28}, {'connected_gene': 'ENSG00000260742', 'score': 0.13}]
chr2 GH02I181808 181808596 181815620 1.63 [{'connected_gene': 'SSFA2', 'score': 2.16}, {'connected_gene': 'RNU6ATAC19P', 'score': 0.19}, {'connected_gene': 'ENSG00000260742', 'score': 0.18}]
chr2 GH02I181858 181858434 181858843 0.2 [{'connected_gene': 'SSFA2', 'score': 11.62}, {'connected_gene': 'ENSG00000260742', 'score': 0.29}, {'connected_gene': 'RNU6ATAC19P', 'score': 0.13}]
chr2 GH02I181933 181933244 181934577 0.2 [{'connected_gene': 'PPP1R1C', 'score': 11.79}, {'connected_gene': 'SSFA2', 'score': 11.08}, {'connected_gene': 'RNU6ATAC19P', 'score': 10.47}]
chr2 GH02I181875 181875726 181877774 1.39 [{'connected_gene': 'PPP1R1C', 'score': 10.9}, {'connected_gene': 'SSFA2', 'score': 2.48}, {'connected_gene': 'ENSG00000260742', 'score': 0.39}, {'connected_gene': 'RNU6ATAC19P', 'score': 0.12}]
chr2 GH02I181944 181943677 181945123 0.79 [{'connected_gene': 'PPP1R1C', 'score': 0.44}, {'connected_gene': 'SSFA2', 'score': 0.23}]
chr2 GH02I181921 181921934 181922805 0.2 [{'connected_gene': 'PPP1R1C', 'score': 11.4}, {'connected_gene': 'SSFA2', 'score': 0.29}]
chr2 GH02I181946 181946529 181948043 0.66 [{'connected_gene': 'PPP1R1C', 'score': 0.44}, {'connected_gene': 'SSFA2', 'score': 0.22}]
chr2 GH02I181948 181948833 181949867 0.58 [{'connected_gene': 'PPP1R1C', 'score': 0.77}, {'connected_gene': 'SSFA2', 'score': 0.22}]
chr2 GH02I181943 181943474 181943663 0.31 [{'connected_gene': 'PPP1R1C', 'score': 0.39}, {'connected_gene': 'SSFA2', 'score': 0.23}]
chr2 GH02I181924 181924867 181926145 0.2 [{'connected_gene': 'PPP1R1C', 'score': 11.42}, {'connected_gene': 'SSFA2', 'score': 0.29}]
chr2 GH02I181952 181952392 181955807 1.52 [{'connected_gene': 'PPP1R1C', 'score': 550.77}, {'connected_gene': 'DNAJC10', 'score': 9.7}, {'connected_gene': 'SSFA2', 'score': 0.21}]
chr2 GH02I181905 181905751 181906927 0.43 [{'connected_gene': 'RNU6ATAC19P', 'score': 12.64}, {'connected_gene': 'SSFA2', 'score': 0.39}, {'connected_gene': 'PPP1R1C', 'score': 0.25}]
chr2 GH02I181909 181909776 181912463 0.65 [{'connected_gene': 'RNU6ATAC19P', 'score': 12.63}, {'connected_gene': 'SSFA2', 'score': 0.37}, {'connected_gene': 'PPP1R1C', 'score': 0.26}]
chr2 GH02I181907 181907495 181908308 0.49 [{'connected_gene': 'RNU6ATAC19P', 'score': 12.64}, {'connected_gene': 'SSFA2', 'score': 0.37}, {'connected_gene': 'PPP1R1C', 'score': 0.25}]
chr2 GH02I181918 181918808 181919648 0.31 [{'connected_gene': 'RNU6ATAC19P', 'score': 11.86}, {'connected_gene': 'PPP1R1C', 'score': 11.07}, {'connected_gene': 'SSFA2', 'score': 0.31}]
chr2 GH02I181901 181901763 181904976 0.84 [{'connected_gene': 'RNU6ATAC19P', 'score': 12.63}, {'connected_gene': 'PPP1R1C', 'score': 10.7}, {'connected_gene': 'SSFA2', 'score': 0.39}]
chr2 GH02I181916 181916102 181917999 0.4 [{'connected_gene': 'ENSG00000234595', 'score': 10.13}, {'connected_gene': 'CERKL', 'score': 10.13}, {'connected_gene': 'NEUROD1', 'score': 10.13}, {'connected_gene': 'SSFA2', 'score': 0.31}, {'connected_gene': 'PPP1R1C', 'score': 0.28}]

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