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
ENST00000526180 [[111779288, 111779691], [111781050, 111781173], [111782247, 111782738]] [[111779487, 111779691], [111781050, 111781173], [111782247, 111782448]]
ENST00000524660 [[111779342, 111779691], [111779876, 111779991]] [[111779487, 111779691], [111779876, 111779991]]
ENST00000533280 [[111779343, 111779691], [111781050, 111781173], [111781394, 111781468]] [[111779487, 111779691], [111781050, 111781173]]
ENST00000525823 [[111779343, 111779691], [111781050, 111781617]] [[111779487, 111779691], [111781050, 111781173]]
ENST00000533475 [[111779346, 111779691], [111781050, 111781173], [111782247, 111782646], [111784321, 111784573]] [[111779487, 111779691], [111781050, 111781173], [111782247, 111782448]]
ENST00000527950 [[111779346, 111779691], [111781050, 111781173], [111782247, 111782646], [111794426, 111794446]] [[111779487, 111779691], [111781050, 111781173], [111782247, 111782448]]
ENST00000227251 [[111779352, 111779691], [111781050, 111781173], [111782247, 111782541], [111782642, 111782734]] [[111779487, 111779691], [111781050, 111781173], [111782247, 111782448]]
ENST00000531198 [[111779369, 111779691], [111781050, 111781173], [111782247, 111782646], [111782986, 111783062], [111783828, 111783921]] [[111779487, 111779691], [111781050, 111781173], [111782247, 111782448]]
ENST00000528961 [[111779489, 111779691], [111781050, 111781173], [111781556, 111781584]] [[111779489, 111779691], [111781050, 111781173]]
ENST00000527899 [[111779491, 111779691], [111781050, 111781173], [111782247, 111782646], [111783828, 111784071]] [[111779491, 111779691], [111781050, 111781173], [111782247, 111782448]]
ENST00000526167 [[111779494, 111779691], [111781050, 111781173], [111781357, 111781554]] [[111779494, 111779691], [111781050, 111781173]]
ENST00000529647 [[111779626, 111779691], [111781050, 111781173], [111782247, 111782646], [111784195, 111784303]] [[111779626, 111779691], [111781050, 111781173], [111782247, 111782448]]
ENST00000533971 [[111780485, 111781173], [111782247, 111782540]] [[111780906, 111781173], [111782247, 111782448]]
ENST00000528628 [[111781142, 111781173], [111782247, 111782646], [111783457, 111783651]] [[111781142, 111781173], [111782247, 111782448]]
ENST00000533879 [[111781168, 111781173], [111782247, 111782646], [111783862, 111783937]] [[111781168, 111781173], [111782247, 111782448]]
NM_001330379 [[111779343, 111779691], [111781050, 111781173], [111781394, 111781477]] [[111779487, 111779691], [111781050, 111781173]]
NM_001289808 [[111779343, 111779691], [111781050, 111781173], [111782247, 111782750]] [[111779487, 111779691], [111781050, 111781173], [111782247, 111782448]]
NM_001885 [[111779343, 111779691], [111781050, 111781173], [111782247, 111782646], [111783828, 111783937]] [[111779487, 111779691], [111781050, 111781173], [111782247, 111782448]]
NM_001289807 [[111779343, 111779691], [111781050, 111781173], [111782247, 111782646], [111783862, 111783937]] [[111779487, 111779691], [111781050, 111781173], [111782247, 111782448]]
Promoter
Chrom Start End Description
chr11 111779374 111779406 CAGE_peak_16_at_CRYAB_5end
chr11 111779417 111779444 CAGE_peak_19_at_CRYAB_5end
chr11 111779507 111779528 CAGE_peak_15_at_CRYAB_5end
chr11 111779539 111779572 CAGE_peak_11_at_CRYAB_5end
chr11 111779606 111779681 CAGE_peak_5_at_CRYAB_5end
chr11 111781353 111781364 CAGE_peak_8_at_CRYAB_5end
chr11 111781383 111781392 CAGE_peak_10_at_CRYAB_5end
chr11 111781406 111781417 CAGE_peak_9_at_CRYAB_5end
chr11 111781435 111781447 CAGE_peak_6_at_CRYAB_5end
chr11 111781454 111781513 CAGE_peak_4_at_CRYAB_5end
chr11 111781514 111781529 CAGE_peak_18_at_CRYAB_5end
chr11 111781562 111781581 CAGE_peak_22_at_CRYAB_5end
chr11 111781610 111781617 CAGE_peak_25_at_CRYAB_5end
chr11 111782484 111782501 CAGE_peak_1_at_CRYAB_5end
chr11 111782696 111782707 CAGE_peak_3_at_CRYAB_5end
chr11 111783595 111783625 CAGE_peak_13_at_CRYAB_5end
chr11 111783858 111783916 CAGE_peak_2_at_CRYAB_5end
chr11 111783919 111783928 CAGE_peak_7_at_CRYAB_5end
chr11 111784005 111784038 CAGE_peak_17_at_CRYAB_5end
chr11 111794453 111794471 CAGE_peak_12_at_CRYAB_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I111917 111917609 111919882 1.59 [{'connected_gene': 'C11orf52', 'score': 556.73}, {'connected_gene': 'LOC105369494', 'score': 550.77}, {'connected_gene': 'PPP2R1B', 'score': 14.99}, {'connected_gene': 'FDXACB1', 'score': 10.99}, {'connected_gene': 'C11orf1', 'score': 10.99}, {'connected_gene': 'ALG9', 'score': 10.96}, {'connected_gene': 'SDHD', 'score': 5.06}, {'connected_gene': 'CRYAB', 'score': 0.77}, {'connected_gene': 'HSPB2-C11orf52', 'score': 0.44}]
chr11 GH11I111974 111974502 111979486 2.53 [{'connected_gene': 'DIXDC1', 'score': 559.67}, {'connected_gene': 'C11orf52', 'score': 16.84}, {'connected_gene': 'PPP2R1B', 'score': 14.53}, {'connected_gene': 'CRYAB', 'score': 12.81}, {'connected_gene': 'HSPB2-C11orf52', 'score': 11.04}, {'connected_gene': 'HSPB2', 'score': 11.04}, {'connected_gene': 'SDHD', 'score': 6.42}, {'connected_gene': 'SIK2', 'score': 1.35}, {'connected_gene': 'ENSG00000255286', 'score': 0.29}, {'connected_gene': 'ENSG00000255334', 'score': 0.28}]
chr11 GH11I111986 111986451 111987341 0.31 [{'connected_gene': 'DIXDC1', 'score': 11.67}, {'connected_gene': 'RNA5SP351', 'score': 11.67}, {'connected_gene': 'NKAPD1', 'score': 10.51}, {'connected_gene': 'PIH1D2', 'score': 10.51}, {'connected_gene': 'CRYAB', 'score': 10.43}, {'connected_gene': 'C11orf52', 'score': 10.42}, {'connected_gene': 'PPIHP1', 'score': 9.56}, {'connected_gene': 'ENSG00000255334', 'score': 0.31}, {'connected_gene': 'ENSG00000255286', 'score': 0.26}]
chr11 GH11I111950 111949877 111950026 0.54 [{'connected_gene': 'DIXDC1', 'score': 12.39}, {'connected_gene': 'RNA5SP351', 'score': 12.39}, {'connected_gene': 'CRYAB', 'score': 11.12}, {'connected_gene': 'C11orf52', 'score': 11.1}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.88}, {'connected_gene': 'HSPB2', 'score': 10.88}, {'connected_gene': 'ENSG00000255292', 'score': 10.69}, {'connected_gene': 'SDHD', 'score': 10.69}, {'connected_gene': 'TIMM8B', 'score': 10.69}, {'connected_gene': 'FDXACB1', 'score': 10.37}, {'connected_gene': 'C11orf1', 'score': 10.36}, {'connected_gene': 'ALG9', 'score': 10.35}, {'connected_gene': 'ENSG00000255286', 'score': 0.77}, {'connected_gene': 'ENSG00000255334', 'score': 0.2}]
chr11 GH11I111949 111949637 111949786 0.6 [{'connected_gene': 'DIXDC1', 'score': 12.39}, {'connected_gene': 'RNA5SP351', 'score': 12.39}, {'connected_gene': 'CRYAB', 'score': 11.12}, {'connected_gene': 'C11orf52', 'score': 11.1}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.88}, {'connected_gene': 'HSPB2', 'score': 10.88}, {'connected_gene': 'ENSG00000255292', 'score': 10.69}, {'connected_gene': 'SDHD', 'score': 10.69}, {'connected_gene': 'TIMM8B', 'score': 10.69}, {'connected_gene': 'PPP2R1B', 'score': 10.67}, {'connected_gene': 'FDXACB1', 'score': 10.37}, {'connected_gene': 'C11orf1', 'score': 10.36}, {'connected_gene': 'ALG9', 'score': 10.35}, {'connected_gene': 'ENSG00000255286', 'score': 0.77}, {'connected_gene': 'ENSG00000255334', 'score': 0.2}]
chr11 GH11I112128 112128006 112130158 0.86 [{'connected_gene': 'BCO2', 'score': 28.11}, {'connected_gene': 'IL18', 'score': 11.38}, {'connected_gene': 'TEX12', 'score': 11.35}, {'connected_gene': 'ENSG00000255292', 'score': 11.33}, {'connected_gene': 'ENSG00000254638', 'score': 11.08}, {'connected_gene': 'SDHD', 'score': 11.08}, {'connected_gene': 'TIMM8B', 'score': 11.08}, {'connected_gene': 'NKAPD1', 'score': 10.48}, {'connected_gene': 'PIH1D2', 'score': 10.48}, {'connected_gene': 'CRYAB', 'score': 9.28}, {'connected_gene': 'HSPB2-C11orf52', 'score': 9.27}, {'connected_gene': 'HSPB2', 'score': 9.27}, {'connected_gene': 'C11orf52', 'score': 9.27}, {'connected_gene': 'DIXDC1', 'score': 8.86}]
chr11 GH11I111869 111869801 111870000 0.2 [{'connected_gene': 'ALG9', 'score': 550.77}, {'connected_gene': 'DIXDC1', 'score': 10.86}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.64}, {'connected_gene': 'HSPB2', 'score': 10.64}, {'connected_gene': 'C11orf52', 'score': 10.63}, {'connected_gene': 'CRYAB', 'score': 10.61}, {'connected_gene': 'NKAPD1', 'score': 9.57}, {'connected_gene': 'PIH1D2', 'score': 9.57}, {'connected_gene': 'GC11P111865', 'score': 0.44}, {'connected_gene': 'ENSG00000258529', 'score': 0.44}]
chr11 GH11I111870 111870227 111872417 1.98 [{'connected_gene': 'ALG9', 'score': 550.77}, {'connected_gene': 'PPP2R1B', 'score': 13.87}, {'connected_gene': 'DIXDC1', 'score': 10.86}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.64}, {'connected_gene': 'HSPB2', 'score': 10.64}, {'connected_gene': 'C11orf52', 'score': 10.63}, {'connected_gene': 'CRYAB', 'score': 10.61}, {'connected_gene': 'NKAPD1', 'score': 9.57}, {'connected_gene': 'PIH1D2', 'score': 9.57}, {'connected_gene': 'GC11P111865', 'score': 0.44}, {'connected_gene': 'ENSG00000258529', 'score': 0.44}]
chr11 GH11I111877 111877797 111877906 0.52 [{'connected_gene': 'C11orf1', 'score': 550.77}, {'connected_gene': 'ENSG00000258529', 'score': 550.77}, {'connected_gene': 'C11orf52', 'score': 10.74}, {'connected_gene': 'DIXDC1', 'score': 10.73}, {'connected_gene': 'CRYAB', 'score': 10.73}, {'connected_gene': 'NKAPD1', 'score': 10.54}, {'connected_gene': 'PIH1D2', 'score': 10.54}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.54}, {'connected_gene': 'HSPB2', 'score': 10.54}, {'connected_gene': 'PPP2R1B', 'score': 9.84}, {'connected_gene': 'ENSG00000255292', 'score': 9.43}, {'connected_gene': 'FDXACB1', 'score': 0.77}, {'connected_gene': 'ALG9', 'score': 0.44}]
chr11 GH11I112099 112099966 112101346 0.43 [{'connected_gene': 'NKAPD1', 'score': 11.59}, {'connected_gene': 'PIH1D2', 'score': 11.59}, {'connected_gene': 'TEX12', 'score': 10.33}, {'connected_gene': 'DIXDC1', 'score': 9.6}, {'connected_gene': 'CRYAB', 'score': 9.43}, {'connected_gene': 'C11orf52', 'score': 9.43}, {'connected_gene': 'HSPB2-C11orf52', 'score': 9.28}, {'connected_gene': 'HSPB2', 'score': 9.28}, {'connected_gene': 'SDHD', 'score': 4.4}, {'connected_gene': 'PPP2R1B', 'score': 4.37}, {'connected_gene': 'ENSG00000255292', 'score': 0.39}, {'connected_gene': 'IL18', 'score': 0.21}]
chr11 GH11I111850 111850127 111852645 0.57 [{'connected_gene': 'PPP2R1B', 'score': 28.07}, {'connected_gene': 'ALG9', 'score': 11.79}, {'connected_gene': 'FDXACB1', 'score': 11.08}, {'connected_gene': 'C11orf1', 'score': 11.08}, {'connected_gene': 'C11orf52', 'score': 10.29}, {'connected_gene': 'CRYAB', 'score': 10.28}, {'connected_gene': 'DIXDC1', 'score': 10.27}, {'connected_gene': 'NKAPD1', 'score': 10.02}, {'connected_gene': 'PIH1D2', 'score': 10.02}, {'connected_gene': 'LAYN', 'score': 9.91}, {'connected_gene': 'GNG5P3', 'score': 0.39}, {'connected_gene': 'ALG9-IT1', 'score': 0.34}, {'connected_gene': 'ENSG00000258529', 'score': 0.31}]
chr11 GH11I112103 112103201 112104000 0.2 [{'connected_gene': 'PPP2R1B', 'score': 12.61}, {'connected_gene': 'NKAPD1', 'score': 10.54}, {'connected_gene': 'PIH1D2', 'score': 10.54}, {'connected_gene': 'TEX12', 'score': 9.96}, {'connected_gene': 'CRYAB', 'score': 9.95}, {'connected_gene': 'C11orf52', 'score': 9.94}, {'connected_gene': 'HSPB2-C11orf52', 'score': 9.93}, {'connected_gene': 'HSPB2', 'score': 9.93}, {'connected_gene': 'ENSG00000255292', 'score': 0.37}, {'connected_gene': 'SDHD', 'score': 0.37}, {'connected_gene': 'IL18', 'score': 0.21}]
chr11 GH11I111663 111663677 111664050 0.53 [{'connected_gene': 'SIK2', 'score': 22.23}, {'connected_gene': 'LAYN', 'score': 10.22}, {'connected_gene': 'BTG4', 'score': 10.03}, {'connected_gene': 'C11orf88', 'score': 10.03}, {'connected_gene': 'MIR34C', 'score': 10.03}, {'connected_gene': 'MIR34B', 'score': 10.03}, {'connected_gene': 'CRYAB', 'score': 2.05}, {'connected_gene': 'ENSG00000235286', 'score': 0.44}, {'connected_gene': 'GC11P111651', 'score': 0.39}]
chr11 GH11I111743 111743564 111744426 0.2 [{'connected_gene': 'SIK2', 'score': 11.57}, {'connected_gene': 'CRYAB', 'score': 10.06}, {'connected_gene': 'C11orf52', 'score': 10.06}, {'connected_gene': 'PIR46070', 'score': 0.44}, {'connected_gene': 'PPP2R1B', 'score': 0.34}]
chr11 GH11I111744 111744468 111746629 0.86 [{'connected_gene': 'SIK2', 'score': 11.57}, {'connected_gene': 'CRYAB', 'score': 10.06}, {'connected_gene': 'C11orf52', 'score': 10.06}, {'connected_gene': 'PPP2R1B', 'score': 4.46}, {'connected_gene': 'PIR46070', 'score': 0.44}]
chr11 GH11I111746 111746716 111748923 0.52 [{'connected_gene': 'SIK2', 'score': 11.57}, {'connected_gene': 'CRYAB', 'score': 10.06}, {'connected_gene': 'C11orf52', 'score': 10.06}, {'connected_gene': 'PIR46070', 'score': 0.44}, {'connected_gene': 'PPP2R1B', 'score': 0.37}]
chr11 GH11I112023 112023864 112026400 2.09 [{'connected_gene': 'DLAT', 'score': 550.77}, {'connected_gene': 'PPP2R1B', 'score': 14.77}, {'connected_gene': 'FDXACB1', 'score': 12.73}, {'connected_gene': 'ALG9', 'score': 11.96}, {'connected_gene': 'NKAPD1', 'score': 11.31}, {'connected_gene': 'PIH1D2', 'score': 11.31}, {'connected_gene': 'DIXDC1', 'score': 11.01}, {'connected_gene': 'IL18', 'score': 10.97}, {'connected_gene': 'CRYAB', 'score': 10.46}, {'connected_gene': 'C11orf52', 'score': 10.46}, {'connected_gene': 'GC11M112030', 'score': 0.44}]
chr11 GH11I111922 111922417 111927907 2.22 [{'connected_gene': 'CRYAB', 'score': 550.77}, {'connected_gene': 'DIXDC1', 'score': 550.77}, {'connected_gene': 'PPP2R1B', 'score': 14.07}, {'connected_gene': 'SDHD', 'score': 5.66}, {'connected_gene': 'C11orf52', 'score': 5.58}, {'connected_gene': 'HSPB2-C11orf52', 'score': 0.39}]
chr11 GH11I111981 111981473 111984329 1.25 [{'connected_gene': 'RNA5SP351', 'score': 11.78}, {'connected_gene': 'DIXDC1', 'score': 11.77}, {'connected_gene': 'CRYAB', 'score': 11.52}, {'connected_gene': 'C11orf52', 'score': 11.51}, {'connected_gene': 'HSPB2-C11orf52', 'score': 11.49}, {'connected_gene': 'HSPB2', 'score': 11.49}, {'connected_gene': 'PPP2R1B', 'score': 9.89}, {'connected_gene': 'ENSG00000255334', 'score': 0.29}, {'connected_gene': 'ENSG00000255286', 'score': 0.28}]
chr11 GH11I111828 111828996 111830495 0.67 [{'connected_gene': 'ALG9-IT1', 'score': 550.77}, {'connected_gene': 'SIK2', 'score': 10.92}, {'connected_gene': 'C11orf88', 'score': 9.86}, {'connected_gene': 'BTG4', 'score': 9.86}, {'connected_gene': 'MIR34C', 'score': 9.86}, {'connected_gene': 'MIR34B', 'score': 9.86}, {'connected_gene': 'HSPB2-C11orf52', 'score': 9.7}, {'connected_gene': 'HSPB2', 'score': 9.7}, {'connected_gene': 'C11orf52', 'score': 9.69}, {'connected_gene': 'CRYAB', 'score': 9.69}, {'connected_gene': 'ENSG00000254980', 'score': 9.68}, {'connected_gene': 'PPP2R1B', 'score': 5.56}, {'connected_gene': 'GNG5P3', 'score': 0.29}, {'connected_gene': 'ALG9', 'score': 0.26}, {'connected_gene': 'ENSG00000258529', 'score': 0.25}]
chr11 GH11I111908 111908675 111914930 2.03 [{'connected_gene': 'HSPB2-C11orf52', 'score': 550.77}, {'connected_gene': 'HSPB2', 'score': 550.77}, {'connected_gene': 'CRYAB', 'score': 550.39}, {'connected_gene': 'PPP2R1B', 'score': 16.9}, {'connected_gene': 'C11orf52', 'score': 7.51}, {'connected_gene': 'DLAT', 'score': 4.69}, {'connected_gene': 'RPL37AP8', 'score': 0.34}]
chr11 GH11I111946 111946637 111946786 0.74 [{'connected_gene': 'ENSG00000255286', 'score': 550.77}, {'connected_gene': 'CRYAB', 'score': 11.14}, {'connected_gene': 'C11orf52', 'score': 11.12}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.9}, {'connected_gene': 'HSPB2', 'score': 10.9}, {'connected_gene': 'ENSG00000255292', 'score': 10.69}, {'connected_gene': 'SDHD', 'score': 10.69}, {'connected_gene': 'TIMM8B', 'score': 10.69}, {'connected_gene': 'FDXACB1', 'score': 10.37}, {'connected_gene': 'C11orf1', 'score': 10.37}, {'connected_gene': 'ALG9', 'score': 10.35}, {'connected_gene': 'DIXDC1', 'score': 0.37}, {'connected_gene': 'RNA5SP351', 'score': 0.37}]
chr11 GH11I112082 112082165 112084041 0.54 [{'connected_gene': 'PIR48704', 'score': 550.77}, {'connected_gene': 'RNA5SP351', 'score': 10.09}, {'connected_gene': 'DIXDC1', 'score': 10.09}, {'connected_gene': 'CRYAB', 'score': 10.01}, {'connected_gene': 'C11orf52', 'score': 10.01}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.0}, {'connected_gene': 'HSPB2', 'score': 10.0}, {'connected_gene': 'TEX12', 'score': 9.99}, {'connected_gene': 'PPP2R1B', 'score': 9.3}, {'connected_gene': 'SDHD', 'score': 5.57}, {'connected_gene': 'NKAPD1', 'score': 0.44}, {'connected_gene': 'PIH1D2', 'score': 0.44}]

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