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
ENST00000378961 [[5892075, 5892328], [5896971, 5897018], [5897471, 5897565], [5902980, 5904746], [5905617, 5906007]] [[5892279, 5892328], [5896971, 5897018], [5897471, 5897565], [5902980, 5904746], [5905617, 5905695]]
ENST00000455042 [[5892175, 5892328], [5895263, 5895359], [5896971, 5897018], [5897471, 5897565], [5902980, 5903719]] [[5896982, 5897018], [5897471, 5897565], [5902980, 5903719]]
ENST00000488832 [[5896143, 5897018], [5897471, 5898626]] None
NM_001819 [[5891973, 5892328], [5896971, 5897018], [5897471, 5897565], [5902980, 5904746], [5905617, 5906007]] [[5892279, 5892328], [5896971, 5897018], [5897471, 5897565], [5902980, 5904746], [5905617, 5905695]]
Promoter
Chrom Start End Description
chr20 5892037 5892067 CAGE_peak_2_at_CHGB_5end
chr20 5892121 5892131 CAGE_peak_3_at_CHGB_5end
chr20 5892147 5892163 CAGE_peak_1_at_CHGB_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I005979 5979333 5982468 0.57 [{'connected_gene': 'MCM8', 'score': 45.01}, {'connected_gene': 'CRLS1', 'score': 11.61}, {'connected_gene': 'TRMT6', 'score': 11.27}, {'connected_gene': 'CHGB', 'score': 10.18}, {'connected_gene': 'ENSG00000275632', 'score': 0.37}, {'connected_gene': 'ENSG00000231961', 'score': 0.37}]
chr20 GH20I005972 5972526 5974826 0.52 [{'connected_gene': 'MCM8', 'score': 24.52}, {'connected_gene': 'TRMT6', 'score': 11.39}, {'connected_gene': 'CRLS1', 'score': 11.18}, {'connected_gene': 'CHGB', 'score': 10.4}, {'connected_gene': 'ENSG00000231961', 'score': 0.44}, {'connected_gene': 'ENSG00000275632', 'score': 0.31}]
chr20 GH20I005513 5513558 5514703 1.12 [{'connected_gene': 'MCM8', 'score': 10.98}, {'connected_gene': 'TRMT6', 'score': 10.98}, {'connected_gene': 'CHGB', 'score': 10.06}, {'connected_gene': 'LOC643406', 'score': 7.15}, {'connected_gene': 'LINC01729', 'score': 0.77}, {'connected_gene': 'RPS18P1', 'score': 0.37}, {'connected_gene': 'PIRC103', 'score': 0.29}]
chr20 GH20I005996 5996875 5997104 0.62 [{'connected_gene': 'MCM8', 'score': 26.41}, {'connected_gene': 'TRMT6', 'score': 11.06}, {'connected_gene': 'CHGB', 'score': 9.58}, {'connected_gene': 'ENSG00000275632', 'score': 0.77}, {'connected_gene': 'MCM8-AS1', 'score': 0.44}, {'connected_gene': 'ENSG00000231961', 'score': 0.29}]
chr20 GH20I005918 5918263 5920849 1.07 [{'connected_gene': 'MCM8', 'score': 25.47}, {'connected_gene': 'TRMT6', 'score': 15.2}, {'connected_gene': 'RNU1-55P', 'score': 11.61}, {'connected_gene': 'GPCPD1', 'score': 8.36}, {'connected_gene': 'KANK1P1', 'score': 0.44}, {'connected_gene': 'CHGB', 'score': 0.44}]
chr20 GH20I005947 5947021 5947942 0.89 [{'connected_gene': 'MCM8', 'score': 16.11}, {'connected_gene': 'CHGB', 'score': 10.52}, {'connected_gene': 'TRMT6', 'score': 4.72}, {'connected_gene': 'GPCPD1', 'score': 4.17}, {'connected_gene': 'KANK1P1', 'score': 0.37}]
chr20 GH20I005569 5569801 5571400 0.51 [{'connected_gene': 'GPCPD1', 'score': 16.98}, {'connected_gene': 'TRMT6', 'score': 10.73}, {'connected_gene': 'MCM8', 'score': 10.73}, {'connected_gene': 'CHGB', 'score': 10.39}, {'connected_gene': 'LOC643406', 'score': 9.62}, {'connected_gene': 'EIF4EP1', 'score': 0.34}]
chr20 GH20I005687 5687802 5689799 1.38 [{'connected_gene': 'GPCPD1', 'score': 37.95}, {'connected_gene': 'TRMT6', 'score': 17.25}, {'connected_gene': 'MCM8', 'score': 14.54}, {'connected_gene': 'CHGB', 'score': 9.08}, {'connected_gene': 'LOC105372514', 'score': 0.37}]
chr20 GH20I005800 5800461 5803481 0.2 [{'connected_gene': 'GPCPD1', 'score': 16.08}, {'connected_gene': 'ENSG00000235820', 'score': 10.59}, {'connected_gene': 'RPS18P1', 'score': 10.59}, {'connected_gene': 'CHGB', 'score': 10.34}, {'connected_gene': 'MCM8', 'score': 10.23}, {'connected_gene': 'TRMT6', 'score': 10.23}, {'connected_gene': 'LINC00654', 'score': 4.96}, {'connected_gene': 'C20orf196', 'score': 0.23}, {'connected_gene': 'GC20P005890', 'score': 0.17}]
chr20 GH20I005796 5796540 5798401 0.92 [{'connected_gene': 'GPCPD1', 'score': 11.49}, {'connected_gene': 'ENSG00000235820', 'score': 11.29}, {'connected_gene': 'RPS18P1', 'score': 11.29}, {'connected_gene': 'CHGB', 'score': 10.52}, {'connected_gene': 'RNU1-55P', 'score': 10.37}, {'connected_gene': 'MCM8', 'score': 10.27}, {'connected_gene': 'TRMT6', 'score': 10.27}, {'connected_gene': 'C20orf196', 'score': 0.25}, {'connected_gene': 'GC20P005890', 'score': 0.16}]
chr20 GH20I005674 5674002 5676399 1.6 [{'connected_gene': 'GPCPD1', 'score': 18.25}, {'connected_gene': 'CHGB', 'score': 9.21}, {'connected_gene': 'TRMT6', 'score': 2.38}, {'connected_gene': 'LOC105372514', 'score': 0.29}]
chr20 GH20I005671 5671001 5672600 0.84 [{'connected_gene': 'GPCPD1', 'score': 11.6}, {'connected_gene': 'CHGB', 'score': 9.21}, {'connected_gene': 'LOC105372514', 'score': 0.28}]
chr20 GH20I005679 5679565 5680975 0.43 [{'connected_gene': 'GPCPD1', 'score': 12.05}, {'connected_gene': 'CHGB', 'score': 10.1}, {'connected_gene': 'LOC105372514', 'score': 0.31}]
chr20 GH20I006093 6093525 6096540 0.77 [{'connected_gene': 'FERMT1', 'score': 21.8}, {'connected_gene': 'CHGB', 'score': 9.57}, {'connected_gene': 'GC20P006069', 'score': 0.31}, {'connected_gene': 'GC20M006232', 'score': 0.31}]
chr20 GH20I006033 6033457 6035346 1 [{'connected_gene': 'CRLS1', 'score': 17.95}, {'connected_gene': 'CHGB', 'score': 10.17}, {'connected_gene': 'MCM8', 'score': 4.58}, {'connected_gene': 'GC20M006230', 'score': 0.77}]
chr20 GH20I005788 5788201 5788800 1.23 [{'connected_gene': 'RPS18P1', 'score': 11.95}, {'connected_gene': 'ENSG00000235820', 'score': 11.95}, {'connected_gene': 'GPCPD1', 'score': 11.47}, {'connected_gene': 'CRLS1', 'score': 10.74}, {'connected_gene': 'MCM8', 'score': 10.5}, {'connected_gene': 'TRMT6', 'score': 10.5}, {'connected_gene': 'CHGB', 'score': 10.35}, {'connected_gene': 'C20orf196', 'score': 0.28}, {'connected_gene': 'GC20P005890', 'score': 0.15}]
chr20 GH20I005822 5822516 5823600 1.15 [{'connected_gene': 'CHGB', 'score': 11.14}, {'connected_gene': 'CDS2', 'score': 5.45}, {'connected_gene': 'GC20P005890', 'score': 0.2}, {'connected_gene': 'C20orf196', 'score': 0.19}]
chr20 GH20I005557 5557215 5557404 0.66 [{'connected_gene': 'CHGB', 'score': 10.17}, {'connected_gene': 'MCM8', 'score': 10.14}, {'connected_gene': 'TRMT6', 'score': 10.14}, {'connected_gene': 'EIF4EP1', 'score': 0.44}, {'connected_gene': 'GPCPD1', 'score': 0.23}]
chr20 GH20I005848 5848795 5849004 0.8 [{'connected_gene': 'CHGB', 'score': 11.3}, {'connected_gene': 'MCM8', 'score': 10.28}, {'connected_gene': 'TRMT6', 'score': 10.28}, {'connected_gene': 'GC20P005890', 'score': 0.26}, {'connected_gene': 'C20orf196', 'score': 0.15}]
chr20 GH20I005868 5868357 5875352 0.43 [{'connected_gene': 'CHGB', 'score': 16.02}, {'connected_gene': 'MCM8', 'score': 10.36}, {'connected_gene': 'TRMT6', 'score': 10.36}, {'connected_gene': 'GC20P005890', 'score': 0.37}, {'connected_gene': 'C20orf196', 'score': 0.13}]
chr20 GH20I005885 5885804 5888928 0.43 [{'connected_gene': 'CHGB', 'score': 8.33}, {'connected_gene': 'MCM8', 'score': 4.47}, {'connected_gene': 'GC20P005890', 'score': 0.77}, {'connected_gene': 'C20orf196', 'score': 0.12}]
chr20 GH20I005911 5911053 5912304 2.02 [{'connected_gene': 'CHGB', 'score': 555.39}, {'connected_gene': 'MCM8', 'score': 6.17}, {'connected_gene': 'KANK1P1', 'score': 0.37}]
chr20 GH20I005591 5591108 5595171 1.07 [{'connected_gene': 'CHGB', 'score': 9.49}, {'connected_gene': 'LOC643406', 'score': 8.63}, {'connected_gene': 'GPCPD1', 'score': 4.66}, {'connected_gene': 'EIF4EP1', 'score': 0.26}]
chr20 GH20I005946 5946095 5946264 0.49 [{'connected_gene': 'CHGB', 'score': 10.54}, {'connected_gene': 'TRMT6', 'score': 0.77}, {'connected_gene': 'KANK1P1', 'score': 0.37}]
chr20 GH20I005769 5769503 5771708 0.93 [{'connected_gene': 'CHGB', 'score': 10.24}, {'connected_gene': 'C20orf196', 'score': 0.34}, {'connected_gene': 'GC20P005890', 'score': 0.13}]
chr20 GH20I005766 5766275 5766424 0.54 [{'connected_gene': 'CHGB', 'score': 10.24}, {'connected_gene': 'C20orf196', 'score': 0.37}, {'connected_gene': 'GC20P005890', 'score': 0.13}]
chr20 GH20I005767 5767655 5767804 0.31 [{'connected_gene': 'CHGB', 'score': 10.24}, {'connected_gene': 'C20orf196', 'score': 0.37}, {'connected_gene': 'GC20P005890', 'score': 0.13}]
chr20 GH20I005768 5767979 5768349 0.22 [{'connected_gene': 'CHGB', 'score': 10.24}, {'connected_gene': 'C20orf196', 'score': 0.37}, {'connected_gene': 'GC20P005890', 'score': 0.13}]
chr20 GH20I005844 5843035 5843184 0.89 [{'connected_gene': 'CHGB', 'score': 10.87}, {'connected_gene': 'GC20P005890', 'score': 0.25}, {'connected_gene': 'C20orf196', 'score': 0.16}]
chr20 GH20I005861 5861685 5866544 1 [{'connected_gene': 'CHGB', 'score': 17.22}, {'connected_gene': 'RNU1-55P', 'score': 12.48}, {'connected_gene': 'MCM8', 'score': 9.76}, {'connected_gene': 'TRMT6', 'score': 9.76}, {'connected_gene': 'C20orf196', 'score': 5.58}, {'connected_gene': 'GC20P005890', 'score': 0.31}]
chr20 GH20I005845 5845099 5847480 1.53 [{'connected_gene': 'CHGB', 'score': 11.29}, {'connected_gene': 'RNU1-55P', 'score': 10.96}, {'connected_gene': 'MCM8', 'score': 10.28}, {'connected_gene': 'TRMT6', 'score': 10.28}, {'connected_gene': 'GC20P005890', 'score': 0.26}, {'connected_gene': 'C20orf196', 'score': 0.15}]
chr20 GH20I005728 5728966 5729911 0.46 [{'connected_gene': 'CHGB', 'score': 10.64}, {'connected_gene': 'LOC105372514', 'score': 0.34}, {'connected_gene': 'C20orf196', 'score': 0.34}]
chr20 GH20I005834 5834408 5837452 1.48 [{'connected_gene': 'RNU1-55P', 'score': 11.09}, {'connected_gene': 'CHGB', 'score': 10.71}, {'connected_gene': 'MCM8', 'score': 10.31}, {'connected_gene': 'TRMT6', 'score': 10.31}, {'connected_gene': 'GC20P005890', 'score': 0.23}, {'connected_gene': 'C20orf196', 'score': 0.17}]
chr20 GH20I005843 5843374 5844757 1.55 [{'connected_gene': 'RNU1-55P', 'score': 10.95}, {'connected_gene': 'CHGB', 'score': 10.87}, {'connected_gene': 'MCM8', 'score': 10.39}, {'connected_gene': 'TRMT6', 'score': 10.39}, {'connected_gene': 'GC20P005890', 'score': 0.25}, {'connected_gene': 'C20orf196', 'score': 0.16}]
chr20 GH20I005849 5849200 5849401 0.83 [{'connected_gene': 'RNU1-55P', 'score': 10.86}, {'connected_gene': 'CHGB', 'score': 10.76}, {'connected_gene': 'GC20P005890', 'score': 0.26}, {'connected_gene': 'C20orf196', 'score': 0.15}]
chr20 GH20I005831 5831675 5831824 0.68 [{'connected_gene': 'RNU1-55P', 'score': 11.0}, {'connected_gene': 'CHGB', 'score': 10.71}, {'connected_gene': 'GC20P005890', 'score': 0.22}, {'connected_gene': 'C20orf196', 'score': 0.18}]
chr20 GH20I005890 5890897 5891291 0.22 [{'connected_gene': 'RNU1-55P', 'score': 550.77}, {'connected_gene': 'GC20P005890', 'score': 550.77}, {'connected_gene': 'CHGB', 'score': 2.93}]
chr20 GH20I006077 6077454 6077603 0.69 [{'connected_gene': 'ENSG00000235820', 'score': 11.87}, {'connected_gene': 'RPS18P1', 'score': 11.87}, {'connected_gene': 'MCM8', 'score': 10.34}, {'connected_gene': 'TRMT6', 'score': 10.34}, {'connected_gene': 'CHGB', 'score': 9.68}, {'connected_gene': 'GC20P006069', 'score': 0.44}, {'connected_gene': 'GC20M006232', 'score': 0.26}, {'connected_gene': 'FERMT1', 'score': 0.25}]
chr20 GH20I005531 5531129 5532400 1.02 [{'connected_gene': 'ENSG00000235820', 'score': 550.77}, {'connected_gene': 'RPS18P1', 'score': 550.77}, {'connected_gene': 'GPCPD1', 'score': 10.0}, {'connected_gene': 'LOC643406', 'score': 6.82}, {'connected_gene': 'TRMT6', 'score': 4.25}, {'connected_gene': 'CDS2', 'score': 1.85}, {'connected_gene': 'CHGB', 'score': 1.11}, {'connected_gene': 'LINC01729', 'score': 0.34}]
chr20 GH20I005787 5787001 5787600 0.97 [{'connected_gene': 'ENSG00000235820', 'score': 11.95}, {'connected_gene': 'RPS18P1', 'score': 11.95}, {'connected_gene': 'GPCPD1', 'score': 11.47}, {'connected_gene': 'CRLS1', 'score': 10.74}, {'connected_gene': 'MCM8', 'score': 10.5}, {'connected_gene': 'TRMT6', 'score': 10.5}, {'connected_gene': 'CHGB', 'score': 10.35}, {'connected_gene': 'C20orf196', 'score': 0.28}, {'connected_gene': 'GC20P005890', 'score': 0.15}]
chr20 GH20I005785 5785855 5786167 0.2 [{'connected_gene': 'ENSG00000235820', 'score': 11.95}, {'connected_gene': 'RPS18P1', 'score': 11.95}, {'connected_gene': 'GPCPD1', 'score': 11.86}, {'connected_gene': 'CRLS1', 'score': 10.74}, {'connected_gene': 'MCM8', 'score': 10.5}, {'connected_gene': 'TRMT6', 'score': 10.5}, {'connected_gene': 'CHGB', 'score': 10.35}, {'connected_gene': 'C20orf196', 'score': 0.28}, {'connected_gene': 'GC20P005890', 'score': 0.15}]
chr20 GH20I005778 5778824 5783208 1 [{'connected_gene': 'ENSG00000235820', 'score': 11.65}, {'connected_gene': 'RPS18P1', 'score': 11.65}, {'connected_gene': 'GPCPD1', 'score': 11.09}, {'connected_gene': 'CHGB', 'score': 10.04}, {'connected_gene': 'MCM8', 'score': 9.87}, {'connected_gene': 'TRMT6', 'score': 9.87}, {'connected_gene': 'C20orf196', 'score': 0.29}, {'connected_gene': 'GC20P005890', 'score': 0.14}]
chr20 GH20I005820 5820375 5822293 1.08 [{'connected_gene': 'ENSG00000235820', 'score': 11.42}, {'connected_gene': 'RPS18P1', 'score': 11.42}, {'connected_gene': 'CHGB', 'score': 11.19}, {'connected_gene': 'MCM8', 'score': 10.9}, {'connected_gene': 'TRMT6', 'score': 10.9}, {'connected_gene': 'GC20P005890', 'score': 0.2}, {'connected_gene': 'C20orf196', 'score': 0.19}]
chr20 GH20I005819 5819215 5819364 0.71 [{'connected_gene': 'ENSG00000235820', 'score': 11.42}, {'connected_gene': 'RPS18P1', 'score': 11.42}, {'connected_gene': 'CHGB', 'score': 11.18}, {'connected_gene': 'MCM8', 'score': 10.89}, {'connected_gene': 'TRMT6', 'score': 10.89}, {'connected_gene': 'C20orf196', 'score': 0.2}, {'connected_gene': 'GC20P005890', 'score': 0.19}]
chr20 GH20I005817 5817347 5818213 0.87 [{'connected_gene': 'ENSG00000235820', 'score': 11.42}, {'connected_gene': 'RPS18P1', 'score': 11.42}, {'connected_gene': 'CHGB', 'score': 11.18}, {'connected_gene': 'MCM8', 'score': 10.89}, {'connected_gene': 'TRMT6', 'score': 10.89}, {'connected_gene': 'C20orf196', 'score': 0.2}, {'connected_gene': 'GC20P005890', 'score': 0.19}]

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