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
ENST00000532439 [[104896169, 104896327], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230]] [[104896279, 104896327], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230]]
ENST00000527625 [[104896234, 104896327], [104897568, 104897899]] None
ENST00000526568 [[104896234, 104896327], [104896952, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104905150, 104905201], [104905833, 104905840]] [[104896984, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104905150, 104905201], [104905833, 104905840]]
ENST00000527979 [[104896234, 104896327], [104896952, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104904934, 104905429], [104905833, 104905856]] [[104896984, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104904934, 104905160]]
ENST00000533400 [[104896234, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104903790, 104903853], [104904934, 104905201], [104905833, 104905876]] [[104896984, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104903790, 104903853], [104904934, 104905201], [104905833, 104905840]]
ENST00000436863 [[104896234, 104896327], [104896952, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104903790, 104903853], [104904934, 104905201], [104905833, 104905977]] [[104896984, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104903790, 104903853], [104904934, 104905201], [104905833, 104905840]]
ENST00000393136 [[104896247, 104896327], [104896952, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104904934, 104905201], [104905833, 104905840]] [[104896984, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104904934, 104905201], [104905833, 104905840]]
ENST00000446369 [[104896247, 104896327], [104896952, 104897083], [104897568, 104897678], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104905150, 104905201], [104905833, 104905857]] [[104896984, 104897083], [104897568, 104897678], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104905150, 104905201], [104905833, 104905840]]
ENST00000353247 [[104896247, 104896327], [104896952, 104897083], [104897568, 104897678], [104905150, 104905201], [104905833, 104905857]] [[104896984, 104897083], [104897568, 104897678], [104905150, 104905201], [104905833, 104905840]]
ENST00000594519 [[104896247, 104896327], [104896952, 104897083], [104897568, 104897678], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104905150, 104905201], [104972134, 104972158]] [[104896984, 104897083], [104897568, 104897678], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104905150, 104905201], [104972134, 104972141]]
ENST00000598974 [[104896247, 104896327], [104896952, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104903790, 104903853], [104904934, 104905201], [104972134, 104972158]] [[104896984, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104903790, 104903853], [104904934, 104905201], [104972134, 104972141]]
ENST00000415981 [[104896247, 104896327], [104896952, 104897083], [104897568, 104897678], [104905150, 104905201], [104972134, 104972158]] [[104896984, 104897083], [104897568, 104897678], [104905150, 104905201], [104972134, 104972141]]
ENST00000593315 [[104896247, 104896327], [104896952, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104904934, 104905201], [104972134, 104972158]] [[104896984, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104904934, 104905201], [104972134, 104972141]]
ENST00000525825 [[104896935, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104904934, 104905201], [104905833, 104905876]] [[104896984, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104904934, 104905201], [104905833, 104905840]]
ENST00000534497 [[104896951, 104897083], [104897568, 104897678], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104905150, 104905201], [104905833, 104905840]] [[104896984, 104897083], [104897568, 104897678], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104905150, 104905201], [104905833, 104905840]]
ENST00000531166 [[104896951, 104897083], [104897568, 104897678], [104905150, 104905201], [104905833, 104905840]] [[104896984, 104897083], [104897568, 104897678], [104905150, 104905201], [104905833, 104905840]]
ENST00000529871 [[104897147, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104904934, 104905201], [104905833, 104905874]] [[104901171, 104901230], [104904934, 104905201], [104905833, 104905840]]
ENST00000528974 [[104897272, 104897720], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104903790, 104903853], [104904934, 104905115], [104905833, 104905874]] [[104897703, 104897720], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104903790, 104903853], [104904934, 104905091]]
ENST00000526511 [[104901168, 104902007], [104903790, 104903853], [104904934, 104905201], [104905833, 104905866]] None
ENST00000528424 [[104901580, 104902007], [104904934, 104905085]] None
ENST00000532520 [[104901849, 104902007], [104903790, 104903853], [104904934, 104905201], [104905833, 104905870]] None
NM_001257118 [[104896234, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104903790, 104903853], [104904934, 104905201], [104905833, 104905884]] [[104896984, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104903790, 104903853], [104904934, 104905201], [104905833, 104905840]]
NM_033292 [[104896234, 104896327], [104896952, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104903790, 104903853], [104904934, 104905201], [104905833, 104905884]] [[104896984, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104903790, 104903853], [104904934, 104905201], [104905833, 104905840]]
NM_001257119 [[104896234, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104904934, 104905201], [104905833, 104905884]] [[104896984, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104904934, 104905201], [104905833, 104905840]]
NM_001223 [[104896234, 104896327], [104896952, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104904934, 104905201], [104905833, 104905884]] [[104896984, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104904934, 104905201], [104905833, 104905840]]
NM_033293 [[104896234, 104896327], [104896952, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104905150, 104905201], [104905833, 104905884]] [[104896984, 104897083], [104897568, 104897678], [104899850, 104899994], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104905150, 104905201], [104905833, 104905840]]
NM_033294 [[104896234, 104896327], [104896952, 104897083], [104897568, 104897678], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104905150, 104905201], [104905833, 104905884]] [[104896984, 104897083], [104897568, 104897678], [104900391, 104900626], [104901056, 104901230], [104901891, 104902007], [104905150, 104905201], [104905833, 104905840]]
NM_033295 [[104896234, 104896327], [104896952, 104897083], [104897568, 104897678], [104905150, 104905201], [104905833, 104905884]] [[104896984, 104897083], [104897568, 104897678], [104905150, 104905201], [104905833, 104905840]]
Promoter
Chrom Start End Description
chr11 104905579 104905599 CAGE_peak_3_at_CASP1_5end
chr11 104905868 104905889 CAGE_peak_1_at_CASP1_5end
chr11 104972182 104972190 CAGE_peak_1_at_CARD17_5end,CAGE_peak_2_at_CARD16_5end,CAGE_peak_2_at_CASP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I105000 105000914 105001083 0.56 [{'connected_gene': 'CASP5', 'score': 12.32}, {'connected_gene': 'CASP1', 'score': 12.25}, {'connected_gene': 'ENSG00000284715', 'score': 0.34}]
chr11 GH11I105022 105022372 105024562 1.28 [{'connected_gene': 'CASP5', 'score': 550.77}, {'connected_gene': 'CARD16', 'score': 4.75}, {'connected_gene': 'CASP1', 'score': 0.39}]
chr11 GH11I105032 105032452 105036193 2.2 [{'connected_gene': 'CASP1', 'score': 550.77}, {'connected_gene': 'CARD17', 'score': 35.46}, {'connected_gene': 'CASP4', 'score': 14.13}, {'connected_gene': 'CASP5', 'score': 13.37}, {'connected_gene': 'CARD16', 'score': 12.42}, {'connected_gene': 'CASP1P2', 'score': 4.34}]
chr11 GH11I105044 105043200 105043401 0.7 [{'connected_gene': 'CASP1', 'score': 0.44}, {'connected_gene': 'CASP1P2', 'score': 0.31}, {'connected_gene': 'CARD16', 'score': 0.22}]
chr11 GH11I105040 105040814 105040963 0.4 [{'connected_gene': 'CASP1', 'score': 0.77}, {'connected_gene': 'CASP1P2', 'score': 0.29}, {'connected_gene': 'CARD16', 'score': 0.21}]
chr11 GH11I105200 105200587 105204144 0.83 [{'connected_gene': 'CARD17', 'score': 5.24}, {'connected_gene': 'CASP1', 'score': 4.52}, {'connected_gene': 'CASP4', 'score': 4.24}, {'connected_gene': 'GC11P105198', 'score': 0.77}, {'connected_gene': 'ENSG00000255336', 'score': 0.26}, {'connected_gene': 'LOC105369468', 'score': 0.05}]
chr11 GH11I105243 105243239 105246157 1.13 [{'connected_gene': 'CARD17', 'score': 8.15}, {'connected_gene': 'GRIA4', 'score': 4.19}, {'connected_gene': 'CASP1', 'score': 4.16}, {'connected_gene': 'CARD16', 'score': 2.63}, {'connected_gene': 'CASP4', 'score': 2.16}, {'connected_gene': 'CASP5', 'score': 1.44}, {'connected_gene': 'ENSG00000255336', 'score': 0.77}, {'connected_gene': 'GC11P105198', 'score': 0.25}, {'connected_gene': 'LOC105369468', 'score': 0.06}]
chr11 GH11I105039 105039150 105039205 0.23 [{'connected_gene': 'CARD17', 'score': 3.86}, {'connected_gene': 'CARD16', 'score': 3.13}, {'connected_gene': 'CASP4', 'score': 2.36}, {'connected_gene': 'CASP5', 'score': 1.97}, {'connected_gene': 'CASP1', 'score': 0.77}, {'connected_gene': 'CASP1P2', 'score': 0.29}]
chr11 GH11I105069 105069801 105070000 0.2 [{'connected_gene': 'CASP1P2', 'score': 550.77}, {'connected_gene': 'CASP1', 'score': 0.29}, {'connected_gene': 'CARD16', 'score': 0.29}]
chr11 GH11I105070 105070362 105071987 0.7 [{'connected_gene': 'CASP1P2', 'score': 555.33}, {'connected_gene': 'CARD17', 'score': 24.56}, {'connected_gene': 'CASP1', 'score': 0.29}, {'connected_gene': 'CARD16', 'score': 0.29}]
chr11 GH11I105027 105027458 105028501 0.4 [{'connected_gene': 'CARD16', 'score': 4.76}, {'connected_gene': 'CASP5', 'score': 0.77}, {'connected_gene': 'CASP1', 'score': 0.44}]
chr11 GH11I105043 105043600 105048357 2.36 [{'connected_gene': 'CARD16', 'score': 554.79}, {'connected_gene': 'CASP5', 'score': 11.44}, {'connected_gene': 'CARD17', 'score': 6.22}, {'connected_gene': 'CASP1', 'score': 0.44}, {'connected_gene': 'CASP1P2', 'score': 0.31}]

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