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
ENST00000504548 [[144680073, 144682485]] [[144680073, 144682002]]
ENST00000321385 [[144680073, 144682485]] [[144680220, 144682002]]
NM_032862 [[144680073, 144682485]] [[144680073, 144682002]]
Promoter
Chrom Start End Description
chr8 144679984 144680045 CAGE_peak_1_at_TIGD5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I143453 143453765 143455281 1.4 [{'connected_gene': 'ZNF623', 'score': 22.74}, {'connected_gene': 'JRK', 'score': 21.04}, {'connected_gene': 'ZNF696', 'score': 11.18}, {'connected_gene': 'MAFA-AS1', 'score': 10.54}, {'connected_gene': 'TIGD5', 'score': 10.34}, {'connected_gene': 'PIR44330', 'score': 0.39}, {'connected_gene': 'GC08P143506', 'score': 0.23}, {'connected_gene': 'ZC3H3', 'score': 0.17}]
chr8 GH08I143460 143460438 143464066 1.29 [{'connected_gene': 'ZNF623', 'score': 80.7}, {'connected_gene': 'CPSF1', 'score': 61.63}, {'connected_gene': 'VPS28', 'score': 55.41}, {'connected_gene': 'SLC52A2', 'score': 48.48}, {'connected_gene': 'JRK', 'score': 43.45}, {'connected_gene': 'GPAA1', 'score': 40.71}, {'connected_gene': 'ADCK5', 'score': 37.93}, {'connected_gene': 'TIGD5', 'score': 31.58}, {'connected_gene': 'ZNF707', 'score': 30.08}, {'connected_gene': 'ZNF696', 'score': 18.95}, {'connected_gene': 'ENSG00000255050', 'score': 13.77}, {'connected_gene': 'PARP10', 'score': 11.93}, {'connected_gene': 'EEF1D', 'score': 11.74}, {'connected_gene': 'ZC3H3', 'score': 10.59}, {'connected_gene': 'LOC105375798', 'score': 10.05}, {'connected_gene': 'MINCR', 'score': 9.76}, {'connected_gene': 'GSDMD', 'score': 7.18}, {'connected_gene': 'ENSG00000253931', 'score': 4.91}, {'connected_gene': 'PIR44330', 'score': 0.34}, {'connected_gene': 'GC08P143506', 'score': 0.26}]
chr8 GH08I143601 143601253 143603245 0.98 [{'connected_gene': 'NAPRT', 'score': 60.05}, {'connected_gene': 'LOC105375798', 'score': 20.84}, {'connected_gene': 'GSDMD', 'score': 15.36}, {'connected_gene': 'EEF1D', 'score': 13.53}, {'connected_gene': 'VPS28', 'score': 12.39}, {'connected_gene': 'HSF1', 'score': 11.38}, {'connected_gene': 'ZNF623', 'score': 11.3}, {'connected_gene': 'MAF1', 'score': 11.03}, {'connected_gene': 'SLC39A4', 'score': 4.63}, {'connected_gene': 'TIGD5', 'score': 0.77}, {'connected_gene': 'PYCR3', 'score': 0.44}]
chr8 GH08I144455 144455645 144457247 1.28 [{'connected_gene': 'ZNF251', 'score': 190.01}, {'connected_gene': 'ZNF623', 'score': 170.96}, {'connected_gene': 'ZNF7', 'score': 169.84}, {'connected_gene': 'LRRC14', 'score': 100.94}, {'connected_gene': 'ZNF250', 'score': 98.59}, {'connected_gene': 'ZNF16', 'score': 97.79}, {'connected_gene': 'CPSF1', 'score': 89.44}, {'connected_gene': 'VPS28', 'score': 82.71}, {'connected_gene': 'ZNF517', 'score': 72.17}, {'connected_gene': 'ZNF34', 'score': 62.67}, {'connected_gene': 'GPAA1', 'score': 58.68}, {'connected_gene': 'TMED10P1', 'score': 57.59}, {'connected_gene': 'ENSG00000254533', 'score': 50.38}, {'connected_gene': 'SLC52A2', 'score': 47.36}, {'connected_gene': 'ENSG00000255164', 'score': 46.8}, {'connected_gene': 'LOC105375803', 'score': 38.9}, {'connected_gene': 'EEF1D', 'score': 34.19}, {'connected_gene': 'PARP10', 'score': 30.93}, {'connected_gene': 'ADCK5', 'score': 30.47}, {'connected_gene': 'COMMD5', 'score': 29.3}, {'connected_gene': 'RPL8', 'score': 28.83}, {'connected_gene': 'SHARPIN', 'score': 27.37}, {'connected_gene': 'ENSG00000255050', 'score': 27.18}, {'connected_gene': 'TSSK5P', 'score': 26.5}, {'connected_gene': 'PPP1R16A', 'score': 25.62}, {'connected_gene': 'ENSG00000255085', 'score': 24.15}, {'connected_gene': 'ZNF252P', 'score': 21.19}, {'connected_gene': 'BREA2', 'score': 19.63}, {'connected_gene': 'ZC3H3', 'score': 19.56}, {'connected_gene': 'TIGD5', 'score': 19.16}, {'connected_gene': 'C8orf82', 'score': 15.84}, {'connected_gene': 'NRBP2', 'score': 12.12}, {'connected_gene': 'TONSL', 'score': 11.72}, {'connected_gene': 'CYHR1', 'score': 11.69}, {'connected_gene': 'LOC105375798', 'score': 11.46}, {'connected_gene': 'HSF1', 'score': 11.45}, {'connected_gene': 'MAF1', 'score': 11.05}, {'connected_gene': 'C8orf33', 'score': 10.47}, {'connected_gene': 'ENSG00000254578', 'score': 0.44}, {'connected_gene': 'GC08P144288', 'score': 0.1}]
chr8 GH08I143886 143886285 143886505 0.45 [{'connected_gene': 'EPPK1', 'score': 11.26}, {'connected_gene': 'FAM83H', 'score': 3.82}, {'connected_gene': 'PLEC', 'score': 2.49}, {'connected_gene': 'MROH6', 'score': 1.65}, {'connected_gene': 'TIGD5', 'score': 1.34}, {'connected_gene': 'PIR31533', 'score': 0.29}]
chr8 GH08I144101 144101933 144105889 2.12 [{'connected_gene': 'SHARPIN', 'score': 567.99}, {'connected_gene': 'MAF1', 'score': 561.09}, {'connected_gene': 'ZNF623', 'score': 82.6}, {'connected_gene': 'ZNF7', 'score': 79.28}, {'connected_gene': 'ZNF16', 'score': 68.98}, {'connected_gene': 'ZNF696', 'score': 35.28}, {'connected_gene': 'ZNF517', 'score': 34.67}, {'connected_gene': 'ZNF251', 'score': 34.28}, {'connected_gene': 'ZNF250', 'score': 32.43}, {'connected_gene': 'CPSF1', 'score': 32.25}, {'connected_gene': 'WDR97', 'score': 23.37}, {'connected_gene': 'RPL8', 'score': 22.83}, {'connected_gene': 'EEF1D', 'score': 22.44}, {'connected_gene': 'HSF1', 'score': 21.7}, {'connected_gene': 'LRRC14', 'score': 20.99}, {'connected_gene': 'GPAA1', 'score': 20.92}, {'connected_gene': 'VPS28', 'score': 20.68}, {'connected_gene': 'ENSG00000255224', 'score': 18.7}, {'connected_gene': 'ARHGAP39', 'score': 12.59}, {'connected_gene': 'LOC105375803', 'score': 12.49}, {'connected_gene': 'GLI4', 'score': 11.78}, {'connected_gene': 'ZNF707', 'score': 10.9}, {'connected_gene': 'ENSG00000255050', 'score': 10.61}, {'connected_gene': 'SLC52A2', 'score': 10.58}, {'connected_gene': 'HGH1', 'score': 10.19}, {'connected_gene': 'ENSG00000272172', 'score': 10.13}, {'connected_gene': 'TOP1MT', 'score': 10.06}, {'connected_gene': 'TIGD5', 'score': 9.8}, {'connected_gene': 'MINCR', 'score': 9.72}, {'connected_gene': 'CYC1', 'score': 0.44}]
chr8 GH08I142814 142814301 142817095 1.4 [{'connected_gene': 'LYNX1', 'score': 46.26}, {'connected_gene': 'ZNF623', 'score': 20.02}, {'connected_gene': 'JRK', 'score': 17.86}, {'connected_gene': 'EEF1D', 'score': 13.2}, {'connected_gene': 'LY6D', 'score': 12.36}, {'connected_gene': 'ZNF696', 'score': 11.4}, {'connected_gene': 'TIGD5', 'score': 10.96}, {'connected_gene': 'ENSG00000255050', 'score': 10.61}, {'connected_gene': 'GPIHBP1', 'score': 4.44}, {'connected_gene': 'LY6E', 'score': 2.43}, {'connected_gene': 'GLI4', 'score': 1.23}, {'connected_gene': 'ENSG00000283686', 'score': 0.44}, {'connected_gene': 'GML', 'score': 0.37}]
chr8 GH08I143968 143968731 143979748 2.46 [{'connected_gene': 'PLEC', 'score': 580.31}, {'connected_gene': 'ZNF623', 'score': 29.53}, {'connected_gene': 'ZNF7', 'score': 26.88}, {'connected_gene': 'ZNF251', 'score': 26.66}, {'connected_gene': 'LRRC14', 'score': 25.63}, {'connected_gene': 'ZNF16', 'score': 24.48}, {'connected_gene': 'CPSF1', 'score': 24.05}, {'connected_gene': 'GPAA1', 'score': 22.46}, {'connected_gene': 'WDR97', 'score': 19.38}, {'connected_gene': 'ZNF707', 'score': 18.44}, {'connected_gene': 'ZNF250', 'score': 13.89}, {'connected_gene': 'MIR661', 'score': 13.0}, {'connected_gene': 'LOC105375803', 'score': 12.92}, {'connected_gene': 'VPS28', 'score': 12.39}, {'connected_gene': 'PARP10', 'score': 12.01}, {'connected_gene': 'SPATC1', 'score': 12.01}, {'connected_gene': 'TIGD5', 'score': 11.75}, {'connected_gene': 'EXOSC4', 'score': 11.4}, {'connected_gene': 'ENSG00000255224', 'score': 11.37}, {'connected_gene': 'CYC1', 'score': 11.25}, {'connected_gene': 'MAF1', 'score': 11.24}, {'connected_gene': 'SHARPIN', 'score': 11.24}, {'connected_gene': 'EPPK1', 'score': 11.14}, {'connected_gene': 'ADCK5', 'score': 11.01}, {'connected_gene': 'SLC52A2', 'score': 10.86}, {'connected_gene': 'ZNF696', 'score': 10.46}, {'connected_gene': 'COMMD5', 'score': 9.83}, {'connected_gene': 'MINCR', 'score': 9.7}, {'connected_gene': 'ZNF34', 'score': 9.66}, {'connected_gene': 'C8orf82', 'score': 5.73}]
chr8 GH08I143595 143595367 143600496 2.09 [{'connected_gene': 'EEF1D', 'score': 573.94}, {'connected_gene': 'TIGD5', 'score': 561.7}, {'connected_gene': 'PIR45575', 'score': 550.77}, {'connected_gene': 'NAPRT', 'score': 59.93}, {'connected_gene': 'CPSF1', 'score': 52.15}, {'connected_gene': 'ZNF623', 'score': 41.49}, {'connected_gene': 'VPS28', 'score': 34.43}, {'connected_gene': 'JRK', 'score': 34.42}, {'connected_gene': 'LOC105375803', 'score': 23.89}, {'connected_gene': 'GPAA1', 'score': 23.87}, {'connected_gene': 'ZNF696', 'score': 22.61}, {'connected_gene': 'ZFP41', 'score': 20.76}, {'connected_gene': 'ENSG00000255050', 'score': 20.76}, {'connected_gene': 'LRRC14', 'score': 18.96}, {'connected_gene': 'SHARPIN', 'score': 17.26}, {'connected_gene': 'GSDMD', 'score': 14.99}, {'connected_gene': 'HSF1', 'score': 13.54}, {'connected_gene': 'PARP10', 'score': 12.18}, {'connected_gene': 'ADCK5', 'score': 11.17}, {'connected_gene': 'ZNF707', 'score': 11.02}, {'connected_gene': 'AK3P2', 'score': 10.78}, {'connected_gene': 'LOC105375798', 'score': 10.23}, {'connected_gene': 'TSSK5P', 'score': 10.1}, {'connected_gene': 'FBXL6', 'score': 9.94}]
chr8 GH08I143600 143600517 143601001 0.43 [{'connected_gene': 'EEF1D', 'score': 550.77}, {'connected_gene': 'MROH6', 'score': 9.44}, {'connected_gene': 'TIGD5', 'score': 0.77}, {'connected_gene': 'PYCR3', 'score': 0.44}]
chr8 GH08I144094 144094200 144098940 2.02 [{'connected_gene': 'CYC1', 'score': 550.77}, {'connected_gene': 'WDR97', 'score': 22.41}, {'connected_gene': 'ZNF7', 'score': 16.3}, {'connected_gene': 'CPSF1', 'score': 15.88}, {'connected_gene': 'ZNF250', 'score': 13.97}, {'connected_gene': 'ZNF251', 'score': 12.94}, {'connected_gene': 'LRRC14', 'score': 12.19}, {'connected_gene': 'LOC105375803', 'score': 11.96}, {'connected_gene': 'VPS28', 'score': 11.64}, {'connected_gene': 'ADCK5', 'score': 11.09}, {'connected_gene': 'ZNF623', 'score': 10.81}, {'connected_gene': 'TIGD5', 'score': 10.7}, {'connected_gene': 'FBXL6', 'score': 10.34}, {'connected_gene': 'TOP1MT', 'score': 10.06}, {'connected_gene': 'MAF1', 'score': 0.44}, {'connected_gene': 'SHARPIN', 'score': 0.39}]
chr8 GH08I143275 143275808 143282340 2.12 [{'connected_gene': 'MINCR', 'score': 30.32}, {'connected_gene': 'ZNF623', 'score': 23.03}, {'connected_gene': 'GPAA1', 'score': 21.9}, {'connected_gene': 'PARP10', 'score': 21.24}, {'connected_gene': 'ENSG00000255050', 'score': 19.67}, {'connected_gene': 'ZNF707', 'score': 17.22}, {'connected_gene': 'ZFP41', 'score': 13.95}, {'connected_gene': 'EEF1D', 'score': 13.15}, {'connected_gene': 'ZC3H3', 'score': 12.57}, {'connected_gene': 'RHPN1', 'score': 11.44}, {'connected_gene': 'SHARPIN', 'score': 10.36}, {'connected_gene': 'FAM83H-AS1', 'score': 8.13}, {'connected_gene': 'TOP1MT', 'score': 5.92}, {'connected_gene': 'TIGD5', 'score': 3.54}, {'connected_gene': 'GLI4', 'score': 3.12}, {'connected_gene': 'LY6E', 'score': 2.33}, {'connected_gene': 'PYCR3', 'score': 2.09}, {'connected_gene': 'NAPRT', 'score': 1.9}, {'connected_gene': 'TSTA3', 'score': 1.86}, {'connected_gene': 'ENSG00000264668', 'score': 0.29}]

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