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
ENST00000418389 [[5891286, 5893301], [5896463, 5896586], [5896915, 5897008], [5903622, 5903797]] [[5892927, 5893301], [5896463, 5896586], [5896915, 5897008], [5903622, 5903719]]
ENST00000592634 [[5894685, 5896586], [5896915, 5897008], [5903622, 5903782]] [[5896413, 5896586], [5896915, 5897008], [5903622, 5903719]]
ENST00000593233 [[5894687, 5894865], [5896463, 5896586], [5896915, 5897008], [5901345, 5901465], [5903622, 5903765]] [[5901454, 5901465], [5903622, 5903719]]
ENST00000308961 [[5894687, 5894865], [5896463, 5896586], [5896915, 5897008], [5903622, 5903767]] [[5894752, 5894865], [5896463, 5896586], [5896915, 5897008], [5903622, 5903719]]
ENST00000591341 [[5894691, 5894865], [5896463, 5896692]] None
ENST00000591160 [[5902441, 5902650], [5903622, 5904017]] None
NM_001193375 [[5891286, 5893301], [5896463, 5896586], [5896915, 5897008], [5903622, 5904024]] [[5892927, 5893301], [5896463, 5896586], [5896915, 5897008], [5903622, 5903719]]
NR_034166 [[5894680, 5894865], [5896463, 5896586], [5896915, 5897008], [5901345, 5901465], [5903622, 5904024]] None
NM_175614 [[5894680, 5894865], [5896463, 5896586], [5896915, 5897008], [5903622, 5904024]] [[5894752, 5894865], [5896463, 5896586], [5896915, 5897008], [5903622, 5903719]]
Promoter
Chrom Start End Description
chr19 5903739 5903809 CAGE_peak_1_at_FUT5_5end,CAGE_peak_1_at_NDUFA11_5end
chr19 5903990 5904039 CAGE_peak_2_at_FUT5_5end,CAGE_peak_2_at_NDUFA11_5end
chr19 5904047 5904056 CAGE_peak_3_at_FUT5_5end,CAGE_peak_3_at_NDUFA11_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I005802 5802310 5802499 0.71 [{'connected_gene': 'LONP1', 'score': 11.84}, {'connected_gene': 'CATSPERD', 'score': 11.84}, {'connected_gene': 'FUT6', 'score': 11.79}, {'connected_gene': 'FUT3', 'score': 11.76}, {'connected_gene': 'FUT5', 'score': 11.54}, {'connected_gene': 'NDUFA11', 'score': 11.49}, {'connected_gene': 'VMAC', 'score': 11.49}, {'connected_gene': 'NRTN', 'score': 0.77}, {'connected_gene': 'DUS3L', 'score': 0.39}]
chr19 GH19I005932 5932324 5937448 0.88 [{'connected_gene': 'CAPS', 'score': 20.18}, {'connected_gene': 'RANBP3', 'score': 12.2}, {'connected_gene': 'NDUFA11', 'score': 12.2}, {'connected_gene': 'VMAC', 'score': 12.2}, {'connected_gene': 'FUT5', 'score': 12.12}, {'connected_gene': 'FUT3', 'score': 11.1}, {'connected_gene': 'FUT6', 'score': 11.08}, {'connected_gene': 'ENSG00000267571', 'score': 0.34}, {'connected_gene': 'GC19P005968', 'score': 0.29}]
chr19 GH19I005928 5928857 5930499 0.43 [{'connected_gene': 'CAPS', 'score': 15.16}, {'connected_gene': 'VMAC', 'score': 12.49}, {'connected_gene': 'NDUFA11', 'score': 12.47}, {'connected_gene': 'FUT5', 'score': 12.38}, {'connected_gene': 'FUT3', 'score': 11.14}, {'connected_gene': 'FUT6', 'score': 11.13}, {'connected_gene': 'ENSG00000267571', 'score': 0.37}, {'connected_gene': 'GC19P005968', 'score': 0.28}, {'connected_gene': 'RANBP3', 'score': 0.25}]
chr19 GH19I005925 5925732 5928381 0.77 [{'connected_gene': 'CAPS', 'score': 17.74}, {'connected_gene': 'NDUFA11', 'score': 12.49}, {'connected_gene': 'VMAC', 'score': 12.49}, {'connected_gene': 'FUT5', 'score': 12.38}, {'connected_gene': 'FUT3', 'score': 11.14}, {'connected_gene': 'FUT6', 'score': 11.13}, {'connected_gene': 'ENSG00000267571', 'score': 0.39}, {'connected_gene': 'GC19P005968', 'score': 0.26}, {'connected_gene': 'RANBP3', 'score': 0.23}]
chr19 GH19I005908 5908674 5911430 1.1 [{'connected_gene': 'CAPS', 'score': 583.19}, {'connected_gene': 'NDUFA11', 'score': 13.56}, {'connected_gene': 'VMAC', 'score': 0.44}, {'connected_gene': 'ENSG00000267314', 'score': 0.44}]
chr19 GH19I005880 5880048 5881343 0.88 [{'connected_gene': 'CAPS', 'score': 23.16}, {'connected_gene': 'NDUFA11', 'score': 19.51}, {'connected_gene': 'GC19M005878', 'score': 0.77}, {'connected_gene': 'FUT5', 'score': 0.39}, {'connected_gene': 'ENSG00000267740', 'score': 0.34}]
chr19 GH19I005894 5894030 5895930 0.82 [{'connected_gene': 'CAPS', 'score': 28.03}, {'connected_gene': 'NDUFA11', 'score': 14.05}, {'connected_gene': 'ENSG00000266941', 'score': 0.77}, {'connected_gene': 'ENSG00000267740', 'score': 0.44}, {'connected_gene': 'GC19P005889', 'score': 0.44}]
chr19 GH19I006215 6215897 6224722 1.28 [{'connected_gene': 'ACSBG2', 'score': 11.62}, {'connected_gene': 'RFX2', 'score': 11.3}, {'connected_gene': 'NDUFA11', 'score': 10.09}, {'connected_gene': 'VMAC', 'score': 10.09}, {'connected_gene': 'FUT5', 'score': 10.08}, {'connected_gene': 'SLC25A23', 'score': 4.67}, {'connected_gene': 'GC19M006213', 'score': 0.44}, {'connected_gene': 'GC19M006237', 'score': 0.37}, {'connected_gene': 'MLLT1', 'score': 0.22}]
chr19 GH19I006228 6228771 6229110 0.79 [{'connected_gene': 'ACSBG2', 'score': 11.61}, {'connected_gene': 'RFX2', 'score': 11.28}, {'connected_gene': 'NDUFA11', 'score': 10.08}, {'connected_gene': 'VMAC', 'score': 10.08}, {'connected_gene': 'FUT5', 'score': 10.08}, {'connected_gene': 'GC19M006237', 'score': 0.44}, {'connected_gene': 'GC19M006213', 'score': 0.37}, {'connected_gene': 'MLLT1', 'score': 0.23}]
chr19 GH19I006048 6048002 6049504 1.17 [{'connected_gene': 'ACSBG2', 'score': 12.26}, {'connected_gene': 'RFX2', 'score': 11.63}, {'connected_gene': 'NDUFA11', 'score': 10.2}, {'connected_gene': 'VMAC', 'score': 10.2}, {'connected_gene': 'FUT5', 'score': 10.19}, {'connected_gene': 'GC19M006019', 'score': 0.39}, {'connected_gene': 'ENSG00000267262', 'score': 0.37}]
chr19 GH19I005798 5798947 5799863 1.17 [{'connected_gene': 'DUS3L', 'score': 47.97}, {'connected_gene': 'LONP1', 'score': 11.84}, {'connected_gene': 'CATSPERD', 'score': 11.84}, {'connected_gene': 'FUT6', 'score': 11.77}, {'connected_gene': 'FUT3', 'score': 11.74}, {'connected_gene': 'FUT5', 'score': 11.53}, {'connected_gene': 'NDUFA11', 'score': 11.49}, {'connected_gene': 'VMAC', 'score': 11.48}, {'connected_gene': 'NRTN', 'score': 6.06}]
chr19 GH19I005794 5794190 5794419 0.74 [{'connected_gene': 'DUS3L', 'score': 60.49}, {'connected_gene': 'LONP1', 'score': 11.85}, {'connected_gene': 'CATSPERD', 'score': 11.85}, {'connected_gene': 'FUT6', 'score': 11.76}, {'connected_gene': 'FUT3', 'score': 11.73}, {'connected_gene': 'FUT5', 'score': 11.52}, {'connected_gene': 'NDUFA11', 'score': 11.48}, {'connected_gene': 'VMAC', 'score': 11.47}, {'connected_gene': 'NRTN', 'score': 0.39}]
chr19 GH19I005826 5826274 5830002 1.51 [{'connected_gene': 'DUS3L', 'score': 41.71}, {'connected_gene': 'ENSG00000267571', 'score': 34.97}, {'connected_gene': 'VMAC', 'score': 33.25}, {'connected_gene': 'GPR108', 'score': 22.61}, {'connected_gene': 'NDUFA11', 'score': 15.53}, {'connected_gene': 'PTPRS', 'score': 13.17}, {'connected_gene': 'PRR22', 'score': 12.2}, {'connected_gene': 'SAFB', 'score': 12.12}, {'connected_gene': 'CATSPERD', 'score': 12.09}, {'connected_gene': 'KDM4B', 'score': 11.53}, {'connected_gene': 'SAFB2', 'score': 11.51}, {'connected_gene': 'FUT5', 'score': 11.15}, {'connected_gene': 'RPL36', 'score': 10.69}, {'connected_gene': 'KHSRP', 'score': 10.62}, {'connected_gene': 'GTF2F1', 'score': 10.27}, {'connected_gene': 'SNRPEP4', 'score': 9.69}, {'connected_gene': 'NRTN', 'score': 7.78}, {'connected_gene': 'FUT6', 'score': 5.7}, {'connected_gene': 'GC19M005817', 'score': 0.44}]
chr19 GH19I006018 6018930 6019059 0.49 [{'connected_gene': 'NRTN', 'score': 11.16}, {'connected_gene': 'ACSBG2', 'score': 11.12}, {'connected_gene': 'NDUFA11', 'score': 10.66}, {'connected_gene': 'VMAC', 'score': 10.66}, {'connected_gene': 'FUT5', 'score': 10.63}, {'connected_gene': 'GC19M006019', 'score': 0.37}, {'connected_gene': 'PIR50631', 'score': 0.34}, {'connected_gene': 'LOC100128568', 'score': 0.26}, {'connected_gene': 'RFX2', 'score': 0.09}]
chr19 GH19I005803 5803601 5807021 1.47 [{'connected_gene': 'NRTN', 'score': 555.71}, {'connected_gene': 'DUS3L', 'score': 40.98}, {'connected_gene': 'SAFB2', 'score': 19.64}, {'connected_gene': 'KHSRP', 'score': 13.21}, {'connected_gene': 'GTF2F1', 'score': 12.94}, {'connected_gene': 'FUT6', 'score': 11.78}, {'connected_gene': 'FUT3', 'score': 11.74}, {'connected_gene': 'FUT5', 'score': 11.3}, {'connected_gene': 'NDUFA11', 'score': 11.25}, {'connected_gene': 'VMAC', 'score': 11.25}, {'connected_gene': 'RANBP3', 'score': 10.42}]
chr19 GH19I006270 6270025 6280679 2.77 [{'connected_gene': 'MLLT1', 'score': 558.49}, {'connected_gene': 'DUS3L', 'score': 72.52}, {'connected_gene': 'ZNF557', 'score': 62.77}, {'connected_gene': 'KHSRP', 'score': 62.0}, {'connected_gene': 'SNRPEP4', 'score': 46.16}, {'connected_gene': 'SAFB', 'score': 31.58}, {'connected_gene': 'ENSG00000267571', 'score': 25.37}, {'connected_gene': 'VMAC', 'score': 17.23}, {'connected_gene': 'GPR108', 'score': 15.25}, {'connected_gene': 'RANBP3', 'score': 11.97}, {'connected_gene': 'ACSBG2', 'score': 11.56}, {'connected_gene': 'PTPRS', 'score': 11.37}, {'connected_gene': 'SAFB2', 'score': 11.12}, {'connected_gene': 'ALKBH7', 'score': 10.14}, {'connected_gene': 'GTF2F1', 'score': 10.07}, {'connected_gene': 'VAV1', 'score': 6.52}, {'connected_gene': 'SLC25A23', 'score': 5.36}, {'connected_gene': 'PSPN', 'score': 4.99}, {'connected_gene': 'RFX2', 'score': 2.58}, {'connected_gene': 'DENND1C', 'score': 1.52}, {'connected_gene': 'NDUFA11', 'score': 1.26}, {'connected_gene': 'ENSG00000280394', 'score': 0.39}]
chr19 GH19I005956 5956312 5970192 1.66 [{'connected_gene': 'VMAC', 'score': 40.44}, {'connected_gene': 'ENSG00000267571', 'score': 31.63}, {'connected_gene': 'CAPS', 'score': 27.08}, {'connected_gene': 'DUS3L', 'score': 24.32}, {'connected_gene': 'NDUFA11', 'score': 23.82}, {'connected_gene': 'GPR108', 'score': 23.2}, {'connected_gene': 'FUT5', 'score': 19.53}, {'connected_gene': 'ACSBG2', 'score': 19.42}, {'connected_gene': 'SAFB', 'score': 12.1}, {'connected_gene': 'KDM4B', 'score': 11.53}, {'connected_gene': 'FUT3', 'score': 11.49}, {'connected_gene': 'FUT6', 'score': 11.49}, {'connected_gene': 'KHSRP', 'score': 10.63}, {'connected_gene': 'SNRPEP4', 'score': 9.68}, {'connected_gene': 'SLC25A41', 'score': 8.52}, {'connected_gene': 'PRR22', 'score': 7.99}, {'connected_gene': 'CATSPERD', 'score': 5.97}, {'connected_gene': 'NRTN', 'score': 2.56}, {'connected_gene': 'PSPN', 'score': 2.11}, {'connected_gene': 'RFX2', 'score': 1.26}, {'connected_gene': 'GC19P005968', 'score': 0.44}, {'connected_gene': 'RANBP3', 'score': 0.37}]
chr19 GH19I005902 5902338 5905985 2.1 [{'connected_gene': 'VMAC', 'score': 563.97}, {'connected_gene': 'ENSG00000267740', 'score': 550.77}, {'connected_gene': 'NDUFA11', 'score': 550.77}, {'connected_gene': 'ENSG00000267314', 'score': 550.77}, {'connected_gene': 'CAPS', 'score': 32.23}, {'connected_gene': 'DUS3L', 'score': 24.73}, {'connected_gene': 'PTPRS', 'score': 24.47}, {'connected_gene': 'KHSRP', 'score': 22.99}, {'connected_gene': 'SNRPEP4', 'score': 22.25}, {'connected_gene': 'ENSG00000267571', 'score': 17.06}, {'connected_gene': 'DENND1C', 'score': 15.43}, {'connected_gene': 'TRIP10', 'score': 14.5}, {'connected_gene': 'SAFB', 'score': 12.11}, {'connected_gene': 'KDM4B', 'score': 11.53}, {'connected_gene': 'ENSG00000269680', 'score': 11.37}, {'connected_gene': 'GPR108', 'score': 10.6}]
chr19 GH19I006227 6227147 6228692 0.31 [{'connected_gene': 'FUT5', 'score': 15.63}, {'connected_gene': 'ACSBG2', 'score': 11.61}, {'connected_gene': 'RFX2', 'score': 11.28}, {'connected_gene': 'NDUFA11', 'score': 10.08}, {'connected_gene': 'VMAC', 'score': 10.08}, {'connected_gene': 'GC19M006237', 'score': 0.39}, {'connected_gene': 'GC19M006213', 'score': 0.37}, {'connected_gene': 'MLLT1', 'score': 0.23}]
chr19 GH19I005941 5941408 5945348 0.91 [{'connected_gene': 'NDUFA11', 'score': 23.75}, {'connected_gene': 'CAPS', 'score': 21.04}, {'connected_gene': 'VMAC', 'score': 11.86}, {'connected_gene': 'FUT5', 'score': 11.78}, {'connected_gene': 'GC19P005968', 'score': 0.34}, {'connected_gene': 'ENSG00000267571', 'score': 0.31}, {'connected_gene': 'RANBP3', 'score': 0.29}]
chr19 GH19I005945 5945910 5956204 1.65 [{'connected_gene': 'NDUFA11', 'score': 20.09}, {'connected_gene': 'CAPS', 'score': 19.45}, {'connected_gene': 'FUT5', 'score': 15.06}, {'connected_gene': 'VMAC', 'score': 11.83}, {'connected_gene': 'ACSBG2', 'score': 11.15}, {'connected_gene': 'FUT3', 'score': 10.91}, {'connected_gene': 'FUT6', 'score': 10.89}, {'connected_gene': 'SAFB2', 'score': 1.56}, {'connected_gene': 'GC19P005968', 'score': 0.37}, {'connected_gene': 'RANBP3', 'score': 0.31}, {'connected_gene': 'ENSG00000267571', 'score': 0.28}]
chr19 GH19I005892 5892590 5892799 0.87 [{'connected_gene': 'NDUFA11', 'score': 20.04}, {'connected_gene': 'CAPS', 'score': 19.99}, {'connected_gene': 'GC19P005889', 'score': 0.77}, {'connected_gene': 'ENSG00000266941', 'score': 0.44}, {'connected_gene': 'ENSG00000267740', 'score': 0.39}]
chr19 GH19I005939 5939378 5940338 0.31 [{'connected_gene': 'NDUFA11', 'score': 12.02}, {'connected_gene': 'VMAC', 'score': 12.02}, {'connected_gene': 'FUT5', 'score': 11.95}, {'connected_gene': 'FUT3', 'score': 10.89}, {'connected_gene': 'FUT6', 'score': 10.87}, {'connected_gene': 'GC19P005968', 'score': 0.31}, {'connected_gene': 'ENSG00000267571', 'score': 0.31}, {'connected_gene': 'RANBP3', 'score': 0.28}]
chr19 GH19I005930 5930623 5932009 0.31 [{'connected_gene': 'NDUFA11', 'score': 12.22}, {'connected_gene': 'VMAC', 'score': 12.22}, {'connected_gene': 'FUT5', 'score': 12.12}, {'connected_gene': 'FUT3', 'score': 10.92}, {'connected_gene': 'FUT6', 'score': 10.89}, {'connected_gene': 'ENSG00000267571', 'score': 0.37}, {'connected_gene': 'GC19P005968', 'score': 0.28}, {'connected_gene': 'RANBP3', 'score': 0.25}]
chr19 GH19I005920 5920962 5922758 0.31 [{'connected_gene': 'NDUFA11', 'score': 13.93}, {'connected_gene': 'FUT3', 'score': 10.63}, {'connected_gene': 'FUT6', 'score': 10.61}, {'connected_gene': 'CAPS', 'score': 5.36}, {'connected_gene': 'ENSG00000267571', 'score': 0.44}, {'connected_gene': 'GC19P005968', 'score': 0.25}, {'connected_gene': 'RANBP3', 'score': 0.22}]
chr19 GH19I006095 6095237 6096188 0.2 [{'connected_gene': 'NDUFA11', 'score': 4.77}, {'connected_gene': 'GC19P006105', 'score': 0.39}, {'connected_gene': 'LOC100128144', 'score': 0.34}, {'connected_gene': 'RFX2', 'score': 0.15}]
chr19 GH19I005976 5976738 5980280 2.25 [{'connected_gene': 'LOC100128568', 'score': 550.77}, {'connected_gene': 'RANBP3', 'score': 550.77}, {'connected_gene': 'CAPS', 'score': 14.91}, {'connected_gene': 'DUS3L', 'score': 12.48}, {'connected_gene': 'ENSG00000267571', 'score': 11.24}, {'connected_gene': 'NDUFA11', 'score': 10.9}, {'connected_gene': 'VMAC', 'score': 10.82}, {'connected_gene': 'SAFB', 'score': 10.42}, {'connected_gene': 'GPR108', 'score': 10.31}, {'connected_gene': 'FUT5', 'score': 7.83}, {'connected_gene': 'PIR36394', 'score': 0.39}]
chr19 GH19I006073 6073710 6074936 0.52 [{'connected_gene': 'LOC100128144', 'score': 550.77}, {'connected_gene': 'RFX2', 'score': 12.68}, {'connected_gene': 'NDUFA11', 'score': 5.62}, {'connected_gene': 'ENSG00000267262', 'score': 0.44}, {'connected_gene': 'GC19P006105', 'score': 0.29}]
chr19 GH19I005889 5889383 5890107 0.63 [{'connected_gene': 'GC19P005889', 'score': 550.77}, {'connected_gene': 'CAPS', 'score': 23.58}, {'connected_gene': 'NDUFA11', 'score': 20.43}, {'connected_gene': 'FUT3', 'score': 12.4}, {'connected_gene': 'FUT6', 'score': 12.37}, {'connected_gene': 'ENSG00000267740', 'score': 0.39}, {'connected_gene': 'ENSG00000266941', 'score': 0.39}]
chr19 GH19I006113 6113333 6114477 0.56 [{'connected_gene': 'GC19M006105', 'score': 550.77}, {'connected_gene': 'RANBP3', 'score': 11.28}, {'connected_gene': 'NDUFA11', 'score': 5.2}, {'connected_gene': 'GC19M006107', 'score': 0.77}, {'connected_gene': 'ENSG00000267299', 'score': 0.77}, {'connected_gene': 'RFX2', 'score': 0.17}]
chr19 GH19I005898 5898979 5899020 0.33 [{'connected_gene': 'ENSG00000266941', 'score': 550.77}, {'connected_gene': 'FUT5', 'score': 5.59}, {'connected_gene': 'ENSG00000267740', 'score': 0.77}, {'connected_gene': 'NDUFA11', 'score': 0.44}, {'connected_gene': 'GC19P005889', 'score': 0.44}]

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