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
ENST00000375460 [[17575592, 17575724], [17586072, 17586253], [17588627, 17588700], [17592153, 17592215], [17593213, 17593331], [17594331, 17594457], [17596727, 17596906], [17597373, 17597477], [17597561, 17597673], [17599834, 17599942], [17601129, 17601281], [17603013, 17603158], [17603268, 17603371], [17606844, 17606924], [17607165, 17607291], [17609340, 17610728]] [[17575632, 17575724], [17586072, 17586253], [17588627, 17588700], [17592153, 17592215], [17593213, 17593331], [17594331, 17594457], [17596727, 17596906], [17597373, 17597477], [17597561, 17597673], [17599834, 17599942], [17601129, 17601281], [17603013, 17603158], [17603268, 17603371], [17606844, 17606924], [17607165, 17607291], [17609340, 17609574]]
NM_016233 [[17575592, 17575724], [17586072, 17586253], [17588627, 17588700], [17592153, 17592215], [17593213, 17593331], [17594331, 17594457], [17596727, 17596906], [17597373, 17597477], [17597561, 17597673], [17599834, 17599942], [17601129, 17601281], [17603013, 17603158], [17603268, 17603371], [17606844, 17606924], [17607165, 17607291], [17609340, 17610728]] [[17575632, 17575724], [17586072, 17586253], [17588627, 17588700], [17592153, 17592215], [17593213, 17593331], [17594331, 17594457], [17596727, 17596906], [17597373, 17597477], [17597561, 17597673], [17599834, 17599942], [17601129, 17601281], [17603013, 17603158], [17603268, 17603371], [17606844, 17606924], [17607165, 17607291], [17609340, 17609574]]
Promoter
Chrom Start End Description
chr1 17575584 17575598 CAGE_peak_1_at_PADI3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I017227 17227379 17228313 0.83 [{'connected_gene': 'CROCC', 'score': 65.95}, {'connected_gene': 'CROCCP3', 'score': 57.45}, {'connected_gene': 'LINC01772', 'score': 49.21}, {'connected_gene': 'RPL22P3', 'score': 30.97}, {'connected_gene': 'FBXO42', 'score': 26.91}, {'connected_gene': 'SPATA21', 'score': 11.41}, {'connected_gene': 'MFAP2', 'score': 11.07}, {'connected_gene': 'NBPF1', 'score': 10.02}, {'connected_gene': 'LOC105376805', 'score': 4.87}, {'connected_gene': 'PADI1', 'score': 0.34}, {'connected_gene': 'PADI3', 'score': 0.34}, {'connected_gene': 'GC01M017107', 'score': 0.28}, {'connected_gene': 'GC01M017106', 'score': 0.28}]
chr1 GH01I017125 17125602 17126599 1.25 [{'connected_gene': 'SDHB', 'score': 11.51}, {'connected_gene': 'PADI3', 'score': 11.31}, {'connected_gene': 'CROCC', 'score': 5.95}, {'connected_gene': 'PIR46847', 'score': 0.77}, {'connected_gene': 'LOC105376808', 'score': 0.44}, {'connected_gene': 'GC01M017106', 'score': 0.11}, {'connected_gene': 'GC01M017107', 'score': 0.11}]
chr1 GH01I017228 17228829 17230184 0.63 [{'connected_gene': 'PADI3', 'score': 0.37}, {'connected_gene': 'PADI1', 'score': 0.34}, {'connected_gene': 'GC01M017106', 'score': 0.28}, {'connected_gene': 'GC01M017107', 'score': 0.28}]
chr1 GH01I017239 17239400 17239801 1.04 [{'connected_gene': 'PADI3', 'score': 7.11}, {'connected_gene': 'GC01M017106', 'score': 0.31}, {'connected_gene': 'GC01M017107', 'score': 0.31}, {'connected_gene': 'PADI1', 'score': 0.29}]
chr1 GH01I017244 17244650 17247449 0.64 [{'connected_gene': 'PADI3', 'score': 6.08}, {'connected_gene': 'GC01M017106', 'score': 0.34}, {'connected_gene': 'GC01M017107', 'score': 0.34}, {'connected_gene': 'PADI1', 'score': 0.26}]
chr1 GH01I017249 17249049 17249108 0.61 [{'connected_gene': 'PADI3', 'score': 550.77}, {'connected_gene': 'GC01M017106', 'score': 0.37}, {'connected_gene': 'GC01M017107', 'score': 0.37}, {'connected_gene': 'PADI1', 'score': 0.26}]
chr1 GH01I017210 17210533 17213827 1.28 [{'connected_gene': 'PADI3', 'score': 11.75}, {'connected_gene': 'PADI2', 'score': 11.34}, {'connected_gene': 'SDHB', 'score': 10.79}, {'connected_gene': 'PADI4', 'score': 10.34}, {'connected_gene': 'PADI1', 'score': 0.44}, {'connected_gene': 'GC01M017106', 'score': 0.22}, {'connected_gene': 'GC01M017107', 'score': 0.22}]
chr1 GH01I017215 17215138 17215656 0.63 [{'connected_gene': 'PADI3', 'score': 11.77}, {'connected_gene': 'PADI2', 'score': 10.89}, {'connected_gene': 'SDHB', 'score': 10.79}, {'connected_gene': 'PADI4', 'score': 10.35}, {'connected_gene': 'MST1L', 'score': 4.68}, {'connected_gene': 'PADI1', 'score': 0.39}, {'connected_gene': 'GC01M017107', 'score': 0.23}, {'connected_gene': 'GC01M017106', 'score': 0.23}]
chr1 GH01I017289 17289324 17290243 0.43 [{'connected_gene': 'PADI3', 'score': 11.45}, {'connected_gene': 'PADI2', 'score': 10.77}, {'connected_gene': 'SDHB', 'score': 10.15}, {'connected_gene': 'PADI4', 'score': 8.18}, {'connected_gene': 'MIR3972', 'score': 0.39}]
chr1 GH01I016987 16987106 16987215 0.38 [{'connected_gene': 'MFAP2', 'score': 23.39}, {'connected_gene': 'PADI3', 'score': 9.67}, {'connected_gene': 'PIR43090', 'score': 0.77}, {'connected_gene': 'ENSG00000226526', 'score': 0.44}, {'connected_gene': 'ATP13A2', 'score': 0.34}]
chr1 GH01I016984 16984301 16985441 1.05 [{'connected_gene': 'MFAP2', 'score': 31.86}, {'connected_gene': 'PADI3', 'score': 9.67}, {'connected_gene': 'ENSG00000226526', 'score': 0.44}, {'connected_gene': 'PIR43090', 'score': 0.44}]
chr1 GH01I016977 16977770 16982484 1.9 [{'connected_gene': 'MFAP2', 'score': 594.74}, {'connected_gene': 'ENSG00000226526', 'score': 550.77}, {'connected_gene': 'LOC105376805', 'score': 14.52}, {'connected_gene': 'PADI3', 'score': 9.66}, {'connected_gene': 'ATP13A2', 'score': 4.99}, {'connected_gene': 'CROCCP2', 'score': 4.61}, {'connected_gene': 'LOC105376806', 'score': 0.77}]
chr1 GH01I017188 17188752 17193923 1.47 [{'connected_gene': 'LOC400743', 'score': 561.43}, {'connected_gene': 'NECAP2', 'score': 16.18}, {'connected_gene': 'CROCC', 'score': 13.32}, {'connected_gene': 'PADI3', 'score': 1.4}, {'connected_gene': 'ATP13A2', 'score': 1.36}, {'connected_gene': 'ENSG00000282843', 'score': 0.39}, {'connected_gene': 'GC01M017107', 'score': 0.18}, {'connected_gene': 'GC01M017106', 'score': 0.18}]
chr1 GH01I017231 17231549 17238126 1.41 [{'connected_gene': 'PADI1', 'score': 18.45}, {'connected_gene': 'MT1XP1', 'score': 5.4}, {'connected_gene': 'PADI3', 'score': 0.39}, {'connected_gene': 'GC01M017106', 'score': 0.29}, {'connected_gene': 'GC01M017107', 'score': 0.29}]
chr1 GH01I017126 17126979 17130718 1.55 [{'connected_gene': 'PADI1', 'score': 11.71}, {'connected_gene': 'PADI3', 'score': 11.55}, {'connected_gene': 'SDHB', 'score': 11.51}, {'connected_gene': 'CROCC', 'score': 7.7}, {'connected_gene': 'PADI2', 'score': 5.11}, {'connected_gene': 'PADI4', 'score': 1.7}, {'connected_gene': 'PIR46847', 'score': 0.77}, {'connected_gene': 'LOC105376808', 'score': 0.44}, {'connected_gene': 'GC01M017107', 'score': 0.12}, {'connected_gene': 'GC01M017106', 'score': 0.12}]
chr1 GH01I017176 17176085 17177353 0.46 [{'connected_gene': 'PADI1', 'score': 11.72}, {'connected_gene': 'PADI3', 'score': 11.23}, {'connected_gene': 'PADI4', 'score': 10.23}, {'connected_gene': 'LOC400743', 'score': 9.06}, {'connected_gene': 'LOC105376808', 'score': 0.26}, {'connected_gene': 'GC01M017106', 'score': 0.16}, {'connected_gene': 'GC01M017107', 'score': 0.16}]
chr1 GH01I017274 17274286 17274435 0.62 [{'connected_gene': 'PADI4', 'score': 11.99}, {'connected_gene': 'PADI3', 'score': 11.77}, {'connected_gene': 'SDHB', 'score': 11.11}, {'connected_gene': 'PADI2', 'score': 10.82}, {'connected_gene': 'MIR3972', 'score': 0.77}, {'connected_gene': 'GC01M017106', 'score': 0.44}, {'connected_gene': 'GC01M017107', 'score': 0.44}]
chr1 GH01I017250 17250255 17251974 1.21 [{'connected_gene': 'PADI4', 'score': 11.3}, {'connected_gene': 'PADI2', 'score': 11.16}, {'connected_gene': 'PADI1', 'score': 10.55}, {'connected_gene': 'PADI3', 'score': 5.89}, {'connected_gene': 'GC01M017106', 'score': 0.37}, {'connected_gene': 'GC01M017107', 'score': 0.37}]
chr1 GH01I017281 17281601 17282800 0.69 [{'connected_gene': 'PADI4', 'score': 7.0}, {'connected_gene': 'MIR3972', 'score': 0.77}, {'connected_gene': 'PADI3', 'score': 0.29}]
chr1 GH01I017206 17206802 17209863 1.62 [{'connected_gene': 'CROCCP3', 'score': 12.17}, {'connected_gene': 'PADI3', 'score': 11.48}, {'connected_gene': 'PADI2', 'score': 11.35}, {'connected_gene': 'CROCC', 'score': 10.95}, {'connected_gene': 'NBPF1', 'score': 10.74}, {'connected_gene': 'SDHB', 'score': 10.5}, {'connected_gene': 'LINC01772', 'score': 10.19}, {'connected_gene': 'PADI4', 'score': 10.05}, {'connected_gene': 'PADI1', 'score': 0.77}, {'connected_gene': 'GC01M017107', 'score': 0.22}, {'connected_gene': 'GC01M017106', 'score': 0.22}]
chr1 GH01I017224 17224262 17227371 0.73 [{'connected_gene': 'CROCCP3', 'score': 22.12}, {'connected_gene': 'LINC01772', 'score': 18.81}, {'connected_gene': 'CROCC', 'score': 13.71}, {'connected_gene': 'PADI3', 'score': 13.05}, {'connected_gene': 'PADI2', 'score': 11.52}, {'connected_gene': 'SDHB', 'score': 11.27}, {'connected_gene': 'PADI4', 'score': 10.93}, {'connected_gene': 'LOC105376805', 'score': 4.89}, {'connected_gene': 'PADI1', 'score': 0.34}, {'connected_gene': 'GC01M017107', 'score': 0.26}, {'connected_gene': 'GC01M017106', 'score': 0.26}]
chr1 GH01I017355 17355801 17356800 0.69 [{'connected_gene': 'PADI2', 'score': 11.03}, {'connected_gene': 'PADI3', 'score': 11.02}, {'connected_gene': 'PADI6', 'score': 0.37}, {'connected_gene': 'PADI4', 'score': 0.25}]
chr1 GH01I017063 17062001 17062200 0.63 [{'connected_gene': 'PADI2', 'score': 11.67}, {'connected_gene': 'PADI3', 'score': 11.18}, {'connected_gene': 'PADI4', 'score': 10.43}, {'connected_gene': 'SDHB', 'score': 0.44}]
chr1 GH01I017066 17066201 17067600 0.69 [{'connected_gene': 'PADI2', 'score': 27.93}, {'connected_gene': 'MFAP2', 'score': 14.56}, {'connected_gene': 'PADI3', 'score': 10.89}, {'connected_gene': 'PADI4', 'score': 10.51}, {'connected_gene': 'CROCC', 'score': 6.36}, {'connected_gene': 'SDHB', 'score': 0.39}]
chr1 GH01I017059 17059346 17061800 1.39 [{'connected_gene': 'PADI2', 'score': 28.62}, {'connected_gene': 'MFAP2', 'score': 17.37}, {'connected_gene': 'PADI3', 'score': 11.18}, {'connected_gene': 'PADI4', 'score': 10.43}, {'connected_gene': 'SDHB', 'score': 0.44}]
chr1 GH01I017062 17062801 17064570 1.03 [{'connected_gene': 'PADI2', 'score': 27.5}, {'connected_gene': 'MFAP2', 'score': 14.4}, {'connected_gene': 'PADI3', 'score': 11.18}, {'connected_gene': 'PADI4', 'score': 10.43}, {'connected_gene': 'LOC100421279', 'score': 7.95}, {'connected_gene': 'CROCC', 'score': 5.01}, {'connected_gene': 'ENSG00000224174', 'score': 4.17}, {'connected_gene': 'SDHB', 'score': 0.44}]
chr1 GH01I017276 17276471 17277200 0.72 [{'connected_gene': 'MIR3972', 'score': 550.77}, {'connected_gene': 'PADI4', 'score': 12.09}, {'connected_gene': 'PADI3', 'score': 11.63}, {'connected_gene': 'PADI2', 'score': 11.5}, {'connected_gene': 'GC01M017106', 'score': 0.44}, {'connected_gene': 'GC01M017107', 'score': 0.44}]
chr1 GH01I017121 17121282 17123316 1.27 [{'connected_gene': 'PIR46847', 'score': 550.77}, {'connected_gene': 'CROCC', 'score': 16.0}, {'connected_gene': 'CROCCP3', 'score': 14.42}, {'connected_gene': 'SDHB', 'score': 11.52}, {'connected_gene': 'PADI3', 'score': 11.31}, {'connected_gene': 'NBPF1', 'score': 10.78}, {'connected_gene': 'LINC01772', 'score': 10.44}, {'connected_gene': 'PADI2', 'score': 0.77}, {'connected_gene': 'GC01M017107', 'score': 0.11}, {'connected_gene': 'GC01M017106', 'score': 0.11}]
chr1 GH01I017376 17376969 17378018 0.67 [{'connected_gene': 'ENSG00000227751', 'score': 12.42}, {'connected_gene': 'PADI4', 'score': 11.58}, {'connected_gene': 'PADI3', 'score': 10.64}, {'connected_gene': 'PADI6', 'score': 0.44}, {'connected_gene': 'GC01P017391', 'score': 0.39}]

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