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
ENST00000484457 [[33318913, 33319007], [33339155, 33339217], [33400458, 33400513], [33400774, 33400849], [33406116, 33406211], [33414583, 33414652], [33414751, 33414847], [33415069, 33415196], [33415338, 33415413], [33416779, 33416910], [33418764, 33418825], [33419594, 33419639], [33420176, 33420233], [33425480, 33425693], [33426992, 33429584]] [[33319004, 33319007], [33339155, 33339217], [33400458, 33400513], [33400774, 33400849], [33406116, 33406211], [33414583, 33414652], [33414751, 33414847], [33415069, 33415196], [33415338, 33415413], [33416779, 33416910], [33418764, 33418825], [33419594, 33419639], [33420176, 33420233], [33425480, 33425693], [33426992, 33427100]]
ENST00000435207 [[33318936, 33319007], [33339155, 33339217], [33339360, 33339454], [33358968, 33359105], [33400458, 33400513], [33400774, 33400849], [33406116, 33406211], [33414583, 33414652], [33414751, 33414847], [33415069, 33415196], [33415338, 33415413], [33416779, 33416910], [33418764, 33418825], [33419594, 33419639], [33420176, 33420233], [33425480, 33425693], [33426992, 33427113]] [[33319004, 33319007], [33339155, 33339217], [33339360, 33339454], [33358968, 33359001]]
ENST00000538892 [[33318936, 33319007], [33339155, 33339217], [33400458, 33400513], [33400774, 33400849], [33406116, 33406211], [33414583, 33414652], [33414751, 33414794], [33415362, 33415413], [33416779, 33416910], [33418764, 33418825], [33419594, 33419639], [33420176, 33420233], [33425480, 33425693], [33426992, 33428757]] [[33319004, 33319007], [33339155, 33339217], [33400458, 33400513], [33400774, 33400849], [33406116, 33406211], [33414583, 33414652], [33414751, 33414794], [33415362, 33415413], [33416779, 33416910], [33418764, 33418825], [33419594, 33419639], [33420176, 33420233], [33425480, 33425693], [33426992, 33427100]]
ENST00000283627 [[33318937, 33319007], [33339155, 33339217], [33400774, 33400849], [33406116, 33406211], [33414583, 33414652], [33414751, 33414847], [33415069, 33415196], [33415338, 33415413], [33416779, 33416910], [33418764, 33418825], [33419594, 33419639], [33420176, 33420233], [33425480, 33425693], [33426992, 33427968]] None
ENST00000538181 [[33318942, 33319007], [33339155, 33339217], [33339360, 33339454], [33414583, 33414652], [33414751, 33414847], [33415069, 33415196], [33415338, 33415413], [33416779, 33416910], [33418764, 33418825], [33419594, 33419639], [33420176, 33420233], [33425480, 33425693], [33426992, 33427515]] [[33339416, 33339454], [33414583, 33414652], [33414751, 33414847], [33415069, 33415196], [33415338, 33415413], [33416779, 33416910], [33418764, 33418825], [33419594, 33419639], [33420176, 33420233], [33425480, 33425693], [33426992, 33427100]]
ENST00000432809 [[33318942, 33319007], [33339155, 33339217], [33339360, 33339454], [33414583, 33414652], [33414751, 33414847], [33415069, 33415196], [33415338, 33415413], [33416779, 33416910], [33418764, 33418825], [33419594, 33419639], [33420176, 33420233], [33425480, 33425693], [33426992, 33427515]] [[33319004, 33319007], [33339155, 33339217], [33339360, 33339454], [33414583, 33414613]]
ENST00000446237 [[33318944, 33319007], [33339155, 33339217], [33339360, 33339454], [33400458, 33400513], [33400774, 33400849], [33406116, 33406211], [33414583, 33414652], [33414751, 33414847], [33415069, 33415196], [33415338, 33415413], [33416779, 33416910], [33418764, 33418825], [33419594, 33419639], [33420176, 33420326], [33425480, 33425693], [33426992, 33427110]] [[33419615, 33419639], [33420176, 33420326], [33425480, 33425693], [33426992, 33427100]]
ENST00000451636 [[33318944, 33319007], [33339155, 33339217], [33339360, 33339454], [33400458, 33400513], [33400774, 33400849], [33406116, 33406211], [33414583, 33414652], [33414751, 33414847], [33415069, 33415196], [33415338, 33415413], [33416779, 33416910], [33418764, 33418825], [33419594, 33419639], [33420176, 33420326], [33425480, 33425693], [33426992, 33427440]] [[33319004, 33319007], [33339155, 33339217], [33339360, 33339454], [33400458, 33400513], [33400774, 33400830]]
ENST00000463736 [[33318957, 33319007], [33339155, 33339217], [33414583, 33414652], [33414751, 33414847], [33415069, 33415196], [33415338, 33415413], [33416779, 33416910], [33418764, 33418825], [33419594, 33419639], [33420176, 33420233], [33425480, 33425693], [33426992, 33427220], [33444725, 33445154]] None
ENST00000507198 [[33318967, 33319007], [33339155, 33339217], [33400458, 33400513], [33400774, 33400849], [33406116, 33406211], [33414583, 33414652], [33414751, 33414792], [33415360, 33415413], [33416779, 33416910], [33418764, 33418825], [33419594, 33419639], [33420176, 33420233], [33425480, 33425693], [33426992, 33427254]] [[33319004, 33319007], [33339155, 33339217], [33400458, 33400513], [33400774, 33400849], [33406116, 33406211], [33414583, 33414652], [33414751, 33414792], [33415360, 33415413], [33416779, 33416910], [33418764, 33418825], [33419594, 33419639], [33420176, 33420233], [33425480, 33425693], [33426992, 33427100]]
ENST00000422741 [[33318967, 33319007], [33339155, 33339217], [33406116, 33406211], [33414583, 33414652], [33414732, 33414847], [33415069, 33415196], [33415338, 33415413], [33416779, 33416910], [33418764, 33418825], [33419594, 33419639], [33420176, 33420233], [33425480, 33425693], [33426992, 33428125]] [[33319004, 33319007], [33339155, 33339217], [33406116, 33406162]]
ENST00000421391 [[33318968, 33319007], [33339155, 33339217], [33400458, 33400513], [33400774, 33400849], [33406116, 33406211], [33414583, 33414652], [33414732, 33414847], [33415069, 33415196], [33415338, 33415413], [33416779, 33416910], [33418764, 33418825], [33419594, 33419639], [33420176, 33420233], [33425480, 33425693], [33426992, 33427354]] [[33319004, 33319007], [33339155, 33339217], [33400458, 33400513], [33400774, 33400849], [33406116, 33406211], [33414583, 33414652], [33414732, 33414763]]
ENST00000542085 [[33331167, 33331287], [33339155, 33339217], [33339360, 33339454], [33400458, 33400513], [33400774, 33400849], [33406116, 33406211], [33414583, 33414652], [33414751, 33414847], [33415069, 33415196], [33415338, 33415413], [33416779, 33416910], [33418764, 33418825], [33419594, 33419639], [33420176, 33420233], [33425480, 33425693], [33426992, 33427173]] [[33419615, 33419639], [33420176, 33420233], [33425480, 33425693], [33426992, 33427100]]
ENST00000498807 [[33318516, 33318588], [33339155, 33339217], [33339360, 33339454], [33400458, 33400513], [33400774, 33400849], [33406116, 33406211], [33414583, 33414652], [33414751, 33414787]] None
ENST00000497411 [[33318936, 33319007], [33339155, 33339295], [33400458, 33400513], [33400774, 33400849], [33406116, 33406211], [33414583, 33414652], [33414751, 33414847], [33415069, 33415093]] None
ENST00000425973 [[33318963, 33319007], [33339155, 33339217], [33339360, 33339454], [33344565, 33344652], [33406116, 33406211], [33414583, 33414652], [33414751, 33414811]] [[33319004, 33319007], [33339155, 33339217], [33339360, 33339454], [33344565, 33344649]]
ENST00000483037 [[33319664, 33319885], [33339155, 33339217], [33339360, 33339454], [33342013, 33342063], [33400458, 33400513], [33400774, 33400850]] None
ENST00000493778 [[33331141, 33331287], [33339155, 33339217], [33339360, 33339454], [33400458, 33400513], [33400774, 33400849], [33406116, 33406211], [33414583, 33414652], [33414751, 33414803]] None
ENST00000464164 [[33331160, 33331287], [33339155, 33339217], [33400458, 33400513], [33400774, 33400849], [33406116, 33406211], [33414583, 33414652], [33414751, 33414795]] None
ENST00000461094 [[33405827, 33406211], [33414583, 33414652], [33414732, 33414847], [33415069, 33415110]] None
ENST00000463698 [[33413832, 33414167], [33414583, 33414652], [33414751, 33414847], [33415069, 33415131]] None
ENST00000460186 [[33414479, 33414652], [33414751, 33414847], [33415069, 33415196], [33415338, 33415413], [33416779, 33416858]] None
ENST00000492662 [[33414512, 33414652], [33414751, 33414847], [33415069, 33415196], [33415342, 33415413], [33416779, 33416899]] None
ENST00000471208 [[33414767, 33415196], [33415338, 33415416]] None
ENST00000464990 [[33424043, 33425693], [33426992, 33428117]] None
NM_012157 [[33318933, 33319007], [33339155, 33339217], [33400458, 33400513], [33400774, 33400849], [33406116, 33406211], [33414583, 33414652], [33414751, 33414847], [33415069, 33415196], [33415338, 33415413], [33416779, 33416910], [33418764, 33418825], [33419594, 33419639], [33420176, 33420233], [33425480, 33425693], [33426992, 33428757]] [[33319004, 33319007], [33339155, 33339217], [33400458, 33400513], [33400774, 33400849], [33406116, 33406211], [33414583, 33414652], [33414751, 33414847], [33415069, 33415196], [33415338, 33415413], [33416779, 33416910], [33418764, 33418825], [33419594, 33419639], [33420176, 33420233], [33425480, 33425693], [33426992, 33427100]]
NM_001171713 [[33318936, 33319007], [33339155, 33339217], [33400458, 33400513], [33400774, 33400849], [33406116, 33406211], [33414583, 33414652], [33414751, 33414792], [33415360, 33415413], [33416779, 33416910], [33418764, 33418825], [33419594, 33419639], [33420176, 33420233], [33425480, 33425693], [33426992, 33428757]] [[33319004, 33319007], [33339155, 33339217], [33400458, 33400513], [33400774, 33400849], [33406116, 33406211], [33414583, 33414652], [33414751, 33414792], [33415360, 33415413], [33416779, 33416910], [33418764, 33418825], [33419594, 33419639], [33420176, 33420233], [33425480, 33425693], [33426992, 33427100]]
Promoter
Chrom Start End Description
chr3 33318924 33318985 CAGE_peak_1_at_FBXL2_5end
chr3 33331156 33331177 CAGE_peak_3_at_FBXL2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I033298 33298679 33301548 0.72 [{'connected_gene': 'UBP1', 'score': 17.25}, {'connected_gene': 'SUSD5', 'score': 15.37}, {'connected_gene': 'FBXL2', 'score': 12.7}, {'connected_gene': 'RNU7-110P', 'score': 0.14}]
chr3 GH03I033340 33340574 33340858 0.25 [{'connected_gene': 'UBP1', 'score': 15.58}, {'connected_gene': 'SUSD5', 'score': 10.16}, {'connected_gene': 'CLASP2', 'score': 1.77}, {'connected_gene': 'FBXL2', 'score': 0.21}, {'connected_gene': 'RNU7-110P', 'score': 0.19}]
chr3 GH03I033437 33437191 33442682 2.31 [{'connected_gene': 'UBP1', 'score': 578.92}, {'connected_gene': 'PIR40256', 'score': 550.77}, {'connected_gene': 'CNOT10', 'score': 69.7}, {'connected_gene': 'PDCD6IP', 'score': 44.86}, {'connected_gene': 'FBXL2', 'score': 20.53}, {'connected_gene': 'GLB1', 'score': 20.05}, {'connected_gene': 'TMPPE', 'score': 19.35}, {'connected_gene': 'CMTM6', 'score': 9.75}, {'connected_gene': 'GC03M033417', 'score': 0.39}]
chr3 GH03I033400 33400103 33403016 0.49 [{'connected_gene': 'UBP1', 'score': 29.3}, {'connected_gene': 'FBXL2', 'score': 20.12}, {'connected_gene': 'SUSD5', 'score': 9.53}, {'connected_gene': 'ENSG00000271324', 'score': 4.66}, {'connected_gene': 'RNU7-110P', 'score': 0.39}]
chr3 GH03I033419 33419801 33420800 0.4 [{'connected_gene': 'UBP1', 'score': 26.02}, {'connected_gene': 'FBXL2', 'score': 20.53}, {'connected_gene': 'SUSD5', 'score': 8.79}, {'connected_gene': 'GC03M033417', 'score': 0.44}, {'connected_gene': 'RNU7-110P', 'score': 0.44}]
chr3 GH03I033385 33385019 33386992 0.78 [{'connected_gene': 'UBP1', 'score': 17.1}, {'connected_gene': 'FBXL2', 'score': 12.13}, {'connected_gene': 'CRTAP', 'score': 10.57}, {'connected_gene': 'SUSD5', 'score': 10.04}, {'connected_gene': 'CLASP2', 'score': 9.54}, {'connected_gene': 'TMPPE', 'score': 4.96}, {'connected_gene': 'RNU7-110P', 'score': 0.31}]
chr3 GH03I033431 33431402 33432800 0.63 [{'connected_gene': 'UBP1', 'score': 19.06}, {'connected_gene': 'FBXL2', 'score': 11.67}, {'connected_gene': 'PIR40256', 'score': 0.44}, {'connected_gene': 'GC03M033417', 'score': 0.44}]
chr3 GH03I033359 33359288 33361550 0.77 [{'connected_gene': 'UBP1', 'score': 17.21}, {'connected_gene': 'RNU7-110P', 'score': 0.23}, {'connected_gene': 'FBXL2', 'score': 0.18}]
chr3 GH03I033377 33377611 33378486 0.43 [{'connected_gene': 'UBP1', 'score': 18.84}, {'connected_gene': 'CRTAP', 'score': 10.58}, {'connected_gene': 'SUSD5', 'score': 10.04}, {'connected_gene': 'CLASP2', 'score': 9.46}, {'connected_gene': 'RNU7-110P', 'score': 0.28}, {'connected_gene': 'FBXL2', 'score': 0.15}]
chr3 GH03I032832 32832968 32833621 0.96 [{'connected_gene': 'CNOT10', 'score': 53.96}, {'connected_gene': 'UBP1', 'score': 39.88}, {'connected_gene': 'PDCD6IP', 'score': 38.97}, {'connected_gene': 'FBXL2', 'score': 12.45}, {'connected_gene': 'TMPPE', 'score': 11.79}, {'connected_gene': 'GLB1', 'score': 10.3}, {'connected_gene': 'TRIM71', 'score': 0.37}, {'connected_gene': 'PIR32571', 'score': 0.26}, {'connected_gene': 'GC03M032797', 'score': 0.19}]
chr3 GH03I033391 33391870 33393851 0.92 [{'connected_gene': 'FBXL2', 'score': 11.84}, {'connected_gene': 'UBP1', 'score': 11.04}, {'connected_gene': 'RNU7-110P', 'score': 0.34}]
chr3 GH03I033355 33355291 33356359 0.89 [{'connected_gene': 'FBXL2', 'score': 20.91}, {'connected_gene': 'SUSD5', 'score': 10.4}, {'connected_gene': 'UBP1', 'score': 10.38}, {'connected_gene': 'RNU7-110P', 'score': 0.22}]
chr3 GH03I033276 33276869 33279006 1.89 [{'connected_gene': 'FBXL2', 'score': 564.55}, {'connected_gene': 'SUSD5', 'score': 11.21}, {'connected_gene': 'RNU7-110P', 'score': 0.12}]
chr3 GH03I033577 33577168 33579968 1.21 [{'connected_gene': 'FBXL2', 'score': 15.08}, {'connected_gene': 'CLASP2', 'score': 12.84}, {'connected_gene': 'UBP1', 'score': 4.74}, {'connected_gene': 'COX6CP10', 'score': 0.34}, {'connected_gene': 'GC03M033644', 'score': 0.2}]
chr3 GH03I033394 33394768 33394840 0.51 [{'connected_gene': 'FBXL2', 'score': 3.51}, {'connected_gene': 'CLASP2', 'score': 1.64}, {'connected_gene': 'RNU7-110P', 'score': 0.37}, {'connected_gene': 'UBP1', 'score': 0.25}]
chr3 GH03I033318 33318469 33318618 0.64 [{'connected_gene': 'FBXL2', 'score': 0.26}, {'connected_gene': 'RNU7-110P', 'score': 0.15}]
chr3 GH03I033315 33315909 33316058 0.54 [{'connected_gene': 'FBXL2', 'score': 0.28}, {'connected_gene': 'RNU7-110P', 'score': 0.15}]
chr3 GH03I033372 33372624 33373173 0.98 [{'connected_gene': 'FBXL2', 'score': 22.44}, {'connected_gene': 'RNU7-110P', 'score': 0.26}]
chr3 GH03I033716 33716445 33719311 2.34 [{'connected_gene': 'CLASP2', 'score': 555.64}, {'connected_gene': 'CCR4', 'score': 11.42}, {'connected_gene': 'FBXL2', 'score': 7.99}, {'connected_gene': 'UBP1', 'score': 1.29}, {'connected_gene': 'GC03M033663', 'score': 0.23}, {'connected_gene': 'GC03M033664', 'score': 0.23}]
chr3 GH03I033408 33408730 33410632 0.2 [{'connected_gene': 'RNU7-110P', 'score': 0.77}, {'connected_gene': 'UBP1', 'score': 0.29}, {'connected_gene': 'FBXL2', 'score': 0.12}]
chr3 GH03I033425 33425266 33430999 1.14 [{'connected_gene': 'GC03M033417', 'score': 550.77}, {'connected_gene': 'FBXL2', 'score': 20.71}, {'connected_gene': 'UBP1', 'score': 19.03}, {'connected_gene': 'PIR40256', 'score': 0.39}]

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