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
ENST00000512560 [[79275583, 79279617], [79281393, 79281482], [79282772, 79282930], [79284061, 79284138], [79284284, 79284467], [79284974, 79285067], [79285982, 79286059], [79286980, 79287068]] [[79279506, 79279617], [79281393, 79281482], [79282772, 79282930], [79284061, 79284138], [79284284, 79284467], [79284974, 79285067], [79285982, 79286027]]
ENST00000509852 [[79278722, 79279617], [79282772, 79282930], [79284061, 79284138], [79284284, 79284467], [79284974, 79285067], [79285982, 79286059], [79286416, 79286486], [79286980, 79287082]] [[79279609, 79279617], [79282772, 79282930], [79284061, 79284138], [79284284, 79284467], [79284974, 79285067], [79285982, 79286059], [79286416, 79286486], [79286980, 79287061]]
ENST00000512528 [[79279186, 79279617], [79281393, 79281482], [79282772, 79282930], [79284061, 79284138], [79284284, 79284467], [79284974, 79285067], [79285982, 79286059], [79286416, 79286486], [79286980, 79287082]] [[79279506, 79279617], [79281393, 79281482], [79282772, 79282930], [79284061, 79284138], [79284284, 79284467], [79284974, 79285067], [79285982, 79286059], [79286416, 79286486], [79286980, 79287061]]
NM_001010891 [[79272538, 79279617], [79282772, 79282930], [79284061, 79284138], [79284284, 79284467], [79284974, 79285067], [79285982, 79286059], [79286416, 79286486], [79286980, 79287088]] [[79279609, 79279617], [79282772, 79282930], [79284061, 79284138], [79284284, 79284467], [79284974, 79285067], [79285982, 79286059], [79286416, 79286486], [79286980, 79287061]]
NM_001167741 [[79272538, 79279617], [79281393, 79281482], [79282772, 79282930], [79284061, 79284138], [79284284, 79284467], [79284974, 79285067], [79285982, 79286059], [79286980, 79287088]] [[79279506, 79279617], [79281393, 79281482], [79282772, 79282930], [79284061, 79284138], [79284284, 79284467], [79284974, 79285067], [79285982, 79286027]]
Promoter
Chrom Start End Description
chr5 79276384 79276388 CAGE_peak_4_at_MTX3_5end
chr5 79286883 79286944 CAGE_peak_2_at_MTX3_5end
chr5 79287034 79287045 CAGE_peak_3_at_MTX3_5end
chr5 79287060 79287093 CAGE_peak_1_at_MTX3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I080124 80124463 80127599 1.58 [{'connected_gene': 'ZFYVE16', 'score': 18.53}, {'connected_gene': 'MTX3', 'score': 14.58}, {'connected_gene': 'JMY', 'score': 10.24}, {'connected_gene': 'SERINC5', 'score': 8.11}, {'connected_gene': 'FAM151B', 'score': 3.35}, {'connected_gene': 'ENSG00000251675', 'score': 0.77}, {'connected_gene': 'GC05P080097', 'score': 0.31}]
chr5 GH05I079511 79511200 79515400 2.11 [{'connected_gene': 'HOMER1', 'score': 550.77}, {'connected_gene': 'PAPD4', 'score': 16.67}, {'connected_gene': 'MTX3', 'score': 14.51}, {'connected_gene': 'JMY', 'score': 10.28}, {'connected_gene': 'GC05P079511', 'score': 0.77}]
chr5 GH05I079974 79974664 79975694 0.52 [{'connected_gene': 'THBS4', 'score': 37.7}, {'connected_gene': 'MTX3', 'score': 0.37}, {'connected_gene': 'LINC01455', 'score': 0.28}, {'connected_gene': 'LOC105379048', 'score': 0.13}]
chr5 GH05I079980 79980777 79981605 0.31 [{'connected_gene': 'THBS4', 'score': 39.75}, {'connected_gene': 'MTX3', 'score': 0.39}, {'connected_gene': 'LINC01455', 'score': 0.26}]
chr5 GH05I079962 79962921 79963221 0.52 [{'connected_gene': 'THBS4', 'score': 36.66}, {'connected_gene': 'LINC01455', 'score': 0.31}, {'connected_gene': 'MTX3', 'score': 0.31}, {'connected_gene': 'LOC105379048', 'score': 0.15}]
chr5 GH05I080035 80035299 80035358 0.61 [{'connected_gene': 'THBS4', 'score': 560.49}, {'connected_gene': 'CTD-2201I18.1', 'score': 10.47}, {'connected_gene': 'MTX3', 'score': 10.46}, {'connected_gene': 'ENSG00000251675', 'score': 9.35}, {'connected_gene': 'TRMT112P2', 'score': 0.77}]
chr5 GH05I079955 79955511 79957529 0.68 [{'connected_gene': 'THBS4', 'score': 38.25}, {'connected_gene': 'CTD-2201I18.1', 'score': 10.08}, {'connected_gene': 'LINC01455', 'score': 0.37}, {'connected_gene': 'MTX3', 'score': 0.29}, {'connected_gene': 'LOC105379048', 'score': 0.15}]
chr5 GH05I080959 80959121 80962239 1.92 [{'connected_gene': 'RASGRF2', 'score': 559.29}, {'connected_gene': 'RASGRF2-AS1', 'score': 550.77}, {'connected_gene': 'CKMT2-AS1', 'score': 11.9}, {'connected_gene': 'ENSG00000248794', 'score': 9.79}, {'connected_gene': 'MTX3', 'score': 9.72}, {'connected_gene': 'DHFR', 'score': 4.94}]
chr5 GH05I079989 79989912 79992019 2 [{'connected_gene': 'MTX3', 'score': 557.01}, {'connected_gene': 'THBS4', 'score': 550.77}, {'connected_gene': 'LINC01455', 'score': 0.23}]
chr5 GH05I079144 79144077 79144247 1.04 [{'connected_gene': 'MTX3', 'score': 12.39}, {'connected_gene': 'JMY', 'score': 11.93}, {'connected_gene': 'RNY3P1', 'score': 0.31}, {'connected_gene': 'GC05M079171', 'score': 0.31}, {'connected_gene': 'BHMT', 'score': 0.29}, {'connected_gene': 'DMGDH', 'score': 0.16}]
chr5 GH05I080251 80251315 80259062 2.46 [{'connected_gene': 'SERINC5', 'score': 550.77}, {'connected_gene': 'GC05P080257', 'score': 550.77}, {'connected_gene': 'PAPD4', 'score': 56.54}, {'connected_gene': 'RPS3AP20', 'score': 22.04}, {'connected_gene': 'MTX3', 'score': 12.0}, {'connected_gene': 'ENSG00000251675', 'score': 10.99}, {'connected_gene': 'CTD-2201I18.1', 'score': 10.3}, {'connected_gene': 'THBS4', 'score': 10.28}, {'connected_gene': 'DHFR', 'score': 5.27}, {'connected_gene': 'GC05P080258', 'score': 0.77}, {'connected_gene': 'GC05P080147', 'score': 0.14}]
chr5 GH05I079611 79611157 79614665 2.1 [{'connected_gene': 'PAPD4', 'score': 585.5}, {'connected_gene': 'RPS3AP20', 'score': 12.18}, {'connected_gene': 'MTX3', 'score': 11.59}, {'connected_gene': 'CRSP8P', 'score': 11.35}, {'connected_gene': 'GC05M079620', 'score': 0.44}]
chr5 GH05I079937 79937978 79939318 0.38 [{'connected_gene': 'LINC01455', 'score': 0.77}, {'connected_gene': 'MTX3', 'score': 0.23}, {'connected_gene': 'LOC105379048', 'score': 0.18}]
chr5 GH05I080487 80487108 80490800 2.01 [{'connected_gene': 'LOC105379049', 'score': 550.77}, {'connected_gene': 'FAM151B', 'score': 550.77}, {'connected_gene': 'ZCCHC9', 'score': 25.34}, {'connected_gene': 'PAPD4', 'score': 15.85}, {'connected_gene': 'CKMT2-AS1', 'score': 15.85}, {'connected_gene': 'MTX3', 'score': 10.47}, {'connected_gene': 'ZFYVE16', 'score': 6.07}, {'connected_gene': 'DHFR', 'score': 5.33}, {'connected_gene': 'RPS27AP9', 'score': 0.39}]
chr5 GH05I079801 79801001 79801400 0.72 [{'connected_gene': 'LOC102724557', 'score': 550.77}, {'connected_gene': 'ENSG00000250258', 'score': 18.58}, {'connected_gene': 'MTX3', 'score': 16.54}, {'connected_gene': 'PAPD4', 'score': 12.63}, {'connected_gene': 'RPS3AP20', 'score': 12.42}, {'connected_gene': 'JMY', 'score': 10.79}, {'connected_gene': 'CMYA5', 'score': 10.21}, {'connected_gene': 'GC05P079745', 'score': 0.22}]