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
ENST00000339865 [[11862969, 11863771], [11906013, 11906127], [11913514, 11913653], [11919143, 11919240], [11924261, 11924407], [11924809, 11924889], [11926945, 11927095], [11941702, 11941798], [11941888, 11942041], [11944270, 11944438], [11950980, 11951112], [11951590, 11951667], [11952242, 11952298], [11954550, 11954663], [11955377, 11955482], [11957849, 11958057], [11959803, 11959919], [11961975, 11962095], [11963881, 11964659], [11969491, 11969667], [11970024, 11970105], [11971435, 11971551], [11971910, 11972029], [11974287, 11974418], [11976443, 11976491], [11976580, 11976711], [11977547, 11980870]] [[11863732, 11863771], [11906013, 11906127], [11913514, 11913653], [11919143, 11919240], [11924261, 11924407], [11924809, 11924889], [11926945, 11927095], [11941702, 11941798], [11941888, 11942041], [11944270, 11944438], [11950980, 11951112], [11951590, 11951667], [11952242, 11952298], [11954550, 11954663], [11955377, 11955482], [11957849, 11958057], [11959803, 11959919], [11961975, 11962095], [11963881, 11964659], [11969491, 11969667], [11970024, 11970105], [11971435, 11971551], [11971910, 11972029], [11974287, 11974418], [11976443, 11976491], [11976580, 11976711], [11977547, 11977722]]
ENST00000539466 [[11863521, 11863771], [11901723, 11901927], [11906013, 11906127], [11913514, 11913653], [11919143, 11919240], [11924261, 11924407], [11924809, 11924889], [11926945, 11927095], [11941702, 11941798], [11941888, 11942041], [11944270, 11944438], [11950980, 11951112], [11951590, 11951667], [11952242, 11952298], [11954550, 11954663], [11955377, 11955482], [11957849, 11958057], [11959803, 11959919], [11961975, 11962095], [11963881, 11964659], [11969491, 11969667], [11970024, 11970105], [11971435, 11971551], [11971910, 11972029], [11974287, 11974418], [11976443, 11976491], [11976580, 11976711], [11977547, 11977952]] [[11974298, 11974418], [11976443, 11976491], [11976580, 11976711], [11977547, 11977722]]
ENST00000527733 [[11863521, 11863771], [11901723, 11901927], [11906013, 11906127], [11913514, 11913653], [11919143, 11919240], [11924261, 11924407], [11924809, 11924889], [11926945, 11927095], [11941702, 11941798], [11941888, 11942041], [11944270, 11944438], [11950980, 11951112], [11951590, 11951667], [11952242, 11952298], [11954550, 11954663], [11955377, 11955482], [11957849, 11958057], [11959803, 11959919], [11961975, 11962095], [11963881, 11964659], [11969491, 11969667], [11970024, 11970105], [11971435, 11971551], [11971910, 11972029], [11974287, 11974418], [11976443, 11976491], [11976580, 11976711], [11977547, 11977968]] [[11863732, 11863771], [11901723, 11901927], [11906013, 11906127], [11913514, 11913653], [11919143, 11919240], [11924261, 11924407], [11924809, 11924889], [11926945, 11927095], [11941702, 11941798], [11941888, 11942041], [11944270, 11944438], [11950980, 11951112], [11951590, 11951667], [11952242, 11952298], [11954550, 11954663], [11955377, 11955482], [11957849, 11958057], [11959803, 11959919], [11961975, 11962095], [11963881, 11964659], [11969491, 11969667], [11970024, 11970105], [11971435, 11971551], [11971910, 11972029], [11974287, 11974418], [11976443, 11976491], [11976580, 11976711], [11977547, 11977722]]
ENST00000399455 [[11863612, 11863771], [11895346, 11895406], [11901723, 11901927], [11906013, 11906127], [11913514, 11913653], [11919143, 11919240], [11924261, 11924407], [11924809, 11924889], [11926945, 11927095], [11941702, 11941798], [11941888, 11942041], [11944270, 11944438], [11950980, 11951112], [11951590, 11951667], [11952242, 11952298], [11954550, 11954663], [11955377, 11955482], [11957849, 11958057], [11959803, 11959919], [11961975, 11962095], [11963881, 11964659], [11969491, 11969667], [11970024, 11970105], [11971435, 11971551], [11971910, 11972029], [11974287, 11974418], [11976443, 11976491], [11976580, 11976711], [11977547, 11980870]] [[11863732, 11863771], [11895346, 11895406], [11901723, 11901927], [11906013, 11906127], [11913514, 11913653], [11919143, 11919240], [11924261, 11924407], [11924809, 11924889], [11926945, 11927095], [11941702, 11941798], [11941888, 11942041], [11944270, 11944438], [11950980, 11951112], [11951590, 11951667], [11952242, 11952298], [11954550, 11954663], [11955377, 11955482], [11957849, 11958057], [11959803, 11959919], [11961975, 11962095], [11963881, 11964659], [11969491, 11969667], [11970024, 11970105], [11971435, 11971551], [11971910, 11972029], [11974287, 11974418], [11976443, 11976491], [11976580, 11976711], [11977547, 11977722]]
ENST00000525257 [[11863486, 11863771], [11900170, 11900196], [11901723, 11901927], [11906013, 11906046]] None
ENST00000525367 [[11901732, 11901927], [11906013, 11906252]] None
ENST00000525078 [[11959876, 11959919], [11961975, 11962095], [11963881, 11964696]] None
ENST00000531513 [[11964496, 11964659], [11969491, 11969667], [11970024, 11970621]] None
ENST00000530041 [[11964973, 11965396], [11969491, 11969667], [11970024, 11970105], [11971435, 11971522]] None
ENST00000530369 [[11969570, 11969791], [11970024, 11970105], [11971435, 11971551], [11971910, 11972029], [11974287, 11974324]] None
ENST00000305481 [[11971989, 11972029], [11973243, 11973316], [11974287, 11974418], [11976443, 11976491], [11976580, 11976711], [11977547, 11980701]] None
ENST00000529813 [[11972419, 11974418], [11976443, 11976491], [11976580, 11976711], [11977547, 11978492]] None
NM_017944 [[11862969, 11863771], [11906013, 11906127], [11913514, 11913653], [11919143, 11919240], [11924261, 11924407], [11924809, 11924889], [11926945, 11927095], [11941702, 11941798], [11941888, 11942041], [11944270, 11944438], [11950980, 11951112], [11951590, 11951667], [11952242, 11952298], [11954550, 11954663], [11955377, 11955482], [11957849, 11958057], [11959803, 11959919], [11961975, 11962095], [11963881, 11964659], [11969491, 11969667], [11970024, 11970105], [11971435, 11971551], [11971910, 11972029], [11974287, 11974418], [11976443, 11976491], [11976580, 11976711], [11977547, 11980872]] [[11863732, 11863771], [11906013, 11906127], [11913514, 11913653], [11919143, 11919240], [11924261, 11924407], [11924809, 11924889], [11926945, 11927095], [11941702, 11941798], [11941888, 11942041], [11944270, 11944438], [11950980, 11951112], [11951590, 11951667], [11952242, 11952298], [11954550, 11954663], [11955377, 11955482], [11957849, 11958057], [11959803, 11959919], [11961975, 11962095], [11963881, 11964659], [11969491, 11969667], [11970024, 11970105], [11971435, 11971551], [11971910, 11972029], [11974287, 11974418], [11976443, 11976491], [11976580, 11976711], [11977547, 11977722]]
NM_001282659 [[11862969, 11863771], [11901723, 11901927], [11906013, 11906127], [11913514, 11913653], [11919143, 11919240], [11924261, 11924407], [11924809, 11924889], [11926945, 11927095], [11941702, 11941798], [11941888, 11942041], [11944270, 11944438], [11950980, 11951112], [11951590, 11951667], [11952242, 11952298], [11954550, 11954663], [11955377, 11955482], [11957849, 11958057], [11959803, 11959919], [11961975, 11962095], [11963881, 11964659], [11969491, 11969667], [11970024, 11970105], [11971435, 11971551], [11971910, 11972029], [11974287, 11974418], [11976443, 11976491], [11976580, 11976711], [11977547, 11980872]] [[11863732, 11863771], [11901723, 11901927], [11906013, 11906127], [11913514, 11913653], [11919143, 11919240], [11924261, 11924407], [11924809, 11924889], [11926945, 11927095], [11941702, 11941798], [11941888, 11942041], [11944270, 11944438], [11950980, 11951112], [11951590, 11951667], [11952242, 11952298], [11954550, 11954663], [11955377, 11955482], [11957849, 11958057], [11959803, 11959919], [11961975, 11962095], [11963881, 11964659], [11969491, 11969667], [11970024, 11970105], [11971435, 11971551], [11971910, 11972029], [11974287, 11974418], [11976443, 11976491], [11976580, 11976711], [11977547, 11977722]]
NM_001330208 [[11862969, 11863771], [11895346, 11895406], [11901723, 11901927], [11906013, 11906127], [11913514, 11913653], [11919143, 11919240], [11924261, 11924407], [11924809, 11924889], [11926945, 11927095], [11941702, 11941798], [11941888, 11942041], [11944270, 11944438], [11950980, 11951112], [11951590, 11951667], [11952242, 11952298], [11954550, 11954663], [11955377, 11955482], [11957849, 11958057], [11959803, 11959919], [11961975, 11962095], [11963881, 11964659], [11969491, 11969667], [11970024, 11970105], [11971435, 11971551], [11971910, 11972029], [11974287, 11974418], [11976443, 11976491], [11976580, 11976711], [11977547, 11980872]] [[11863732, 11863771], [11895346, 11895406], [11901723, 11901927], [11906013, 11906127], [11913514, 11913653], [11919143, 11919240], [11924261, 11924407], [11924809, 11924889], [11926945, 11927095], [11941702, 11941798], [11941888, 11942041], [11944270, 11944438], [11950980, 11951112], [11951590, 11951667], [11952242, 11952298], [11954550, 11954663], [11955377, 11955482], [11957849, 11958057], [11959803, 11959919], [11961975, 11962095], [11963881, 11964659], [11969491, 11969667], [11970024, 11970105], [11971435, 11971551], [11971910, 11972029], [11974287, 11974418], [11976443, 11976491], [11976580, 11976711], [11977547, 11977722]]
Promoter
Chrom Start End Description
chr11 11863500 11863576 CAGE_peak_1_at_USP47_5end
chr11 11863579 11863618 CAGE_peak_2_at_USP47_5end
chr11 11863649 11863660 CAGE_peak_9_at_USP47_5end
chr11 11964586 11964591 CAGE_peak_4_at_USP47_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I011908 11908940 11910947 0.38 [{'connected_gene': 'USP47', 'score': 25.31}, {'connected_gene': 'MICAL2', 'score': 9.03}, {'connected_gene': 'GC11P011898', 'score': 0.39}, {'connected_gene': 'DKK3', 'score': 0.15}]
chr11 GH11I011840 11840791 11846118 2.56 [{'connected_gene': 'USP47', 'score': 566.97}, {'connected_gene': 'ZBED5', 'score': 20.56}, {'connected_gene': 'ENSG00000255492', 'score': 0.39}]
chr11 GH11I011415 11415634 11417163 0.72 [{'connected_gene': 'USP47', 'score': 5.93}, {'connected_gene': 'CSNK2A3', 'score': 0.21}, {'connected_gene': 'PIR58328', 'score': 0.16}, {'connected_gene': 'GALNT18', 'score': 0.08}]
chr11 GH11I011787 11787874 11788023 0.63 [{'connected_gene': 'USP47', 'score': 17.72}, {'connected_gene': 'ENSG00000255351', 'score': 9.74}, {'connected_gene': 'CSNK2A3', 'score': 9.74}, {'connected_gene': 'MIR8070', 'score': 0.77}, {'connected_gene': 'PIR62366', 'score': 0.28}]
chr11 GH11I011968 11968111 11969861 0.69 [{'connected_gene': 'USP47', 'score': 7.01}, {'connected_gene': 'DKK3', 'score': 0.26}, {'connected_gene': 'GC11P011898', 'score': 0.19}]
chr11 GH11I011970 11970438 11970870 0.31 [{'connected_gene': 'USP47', 'score': 4.68}, {'connected_gene': 'DKK3', 'score': 0.28}, {'connected_gene': 'GC11P011898', 'score': 0.19}]
chr11 GH11I011948 11948644 11949058 0.74 [{'connected_gene': 'USP47', 'score': 10.0}, {'connected_gene': 'GC11P011898', 'score': 0.23}, {'connected_gene': 'DKK3', 'score': 0.21}]
chr11 GH11I011963 11963041 11966118 0.62 [{'connected_gene': 'USP47', 'score': 11.65}, {'connected_gene': 'DKK3', 'score': 0.25}, {'connected_gene': 'GC11P011898', 'score': 0.2}]
chr11 GH11I011971 11971206 11971771 0.31 [{'connected_gene': 'USP47', 'score': 10.61}, {'connected_gene': 'DKK3', 'score': 0.28}, {'connected_gene': 'GC11P011898', 'score': 0.19}]
chr11 GH11I011916 11916543 11917703 0.31 [{'connected_gene': 'USP47', 'score': 16.55}, {'connected_gene': 'GC11P011898', 'score': 0.37}, {'connected_gene': 'DKK3', 'score': 0.16}]
chr11 GH11I011959 11959521 11962685 0.46 [{'connected_gene': 'USP47', 'score': 14.07}, {'connected_gene': 'DKK3', 'score': 6.42}, {'connected_gene': 'GC11P011898', 'score': 0.21}]
chr11 GH11I011946 11946790 11947224 0.2 [{'connected_gene': 'USP47', 'score': 9.99}, {'connected_gene': 'GC11P011898', 'score': 0.25}, {'connected_gene': 'DKK3', 'score': 0.21}]
chr11 GH11I011806 11806754 11806903 0.31 [{'connected_gene': 'USP47', 'score': 11.94}, {'connected_gene': 'PIR62366', 'score': 0.37}, {'connected_gene': 'MIR8070', 'score': 0.34}]
chr11 GH11I011798 11798934 11799083 0.69 [{'connected_gene': 'USP47', 'score': 12.27}, {'connected_gene': 'MIR8070', 'score': 0.37}, {'connected_gene': 'PIR62366', 'score': 0.31}]
chr11 GH11I011812 11812705 11815304 1.13 [{'connected_gene': 'USP47', 'score': 28.0}, {'connected_gene': 'PIR62366', 'score': 0.39}, {'connected_gene': 'MIR8070', 'score': 0.29}]
chr11 GH11I011808 11808726 11809675 0.38 [{'connected_gene': 'USP47', 'score': 27.79}, {'connected_gene': 'PIR62366', 'score': 0.37}, {'connected_gene': 'MIR8070', 'score': 0.31}]
chr11 GH11I011811 11811474 11811663 0.76 [{'connected_gene': 'USP47', 'score': 12.02}, {'connected_gene': 'PIR62366', 'score': 0.39}, {'connected_gene': 'MIR8070', 'score': 0.31}]
chr11 GH11I011872 11871755 11872503 0.52 [{'connected_gene': 'USP47', 'score': 26.43}, {'connected_gene': 'ENSG00000255492', 'score': 0.37}, {'connected_gene': 'PIR48629', 'score': 0.34}]
chr11 GH11I011859 11859812 11859994 0.2 [{'connected_gene': 'USP47', 'score': 10.33}, {'connected_gene': 'ENSG00000255492', 'score': 0.77}, {'connected_gene': 'PIR48629', 'score': 0.29}]
chr11 GH11I011878 11878008 11878341 0.43 [{'connected_gene': 'USP47', 'score': 11.26}, {'connected_gene': 'PIR48629', 'score': 0.37}, {'connected_gene': 'ENSG00000255492', 'score': 0.34}]
chr11 GH11I011884 11884454 11884603 0.2 [{'connected_gene': 'USP47', 'score': 11.78}, {'connected_gene': 'PIR48629', 'score': 0.44}, {'connected_gene': 'ENSG00000255492', 'score': 0.31}]
chr11 GH11I011871 11871534 11871683 0.46 [{'connected_gene': 'USP47', 'score': 19.4}, {'connected_gene': 'ENSG00000255492', 'score': 0.39}, {'connected_gene': 'PIR48629', 'score': 0.34}]
chr11 GH11I011865 11865014 11865143 0.46 [{'connected_gene': 'USP47', 'score': 6.76}, {'connected_gene': 'ENSG00000255492', 'score': 0.44}, {'connected_gene': 'PIR48629', 'score': 0.31}]
chr11 GH11I011972 11972543 11984168 1.46 [{'connected_gene': 'DKK3', 'score': 12.35}, {'connected_gene': 'MICAL2', 'score': 9.65}, {'connected_gene': 'USP47', 'score': 8.68}, {'connected_gene': 'GALNT18', 'score': 5.3}, {'connected_gene': 'MICALCL', 'score': 1.78}, {'connected_gene': 'GC11P011898', 'score': 0.18}]
chr11 GH11I011850 11850801 11851000 0.31 [{'connected_gene': 'ENSG00000255492', 'score': 0.44}, {'connected_gene': 'USP47', 'score': 0.44}]
chr11 GH11I011860 11860094 11861083 0.87 [{'connected_gene': 'ENSG00000255492', 'score': 0.77}, {'connected_gene': 'USP47', 'score': 0.37}, {'connected_gene': 'PIR48629', 'score': 0.29}]
chr11 GH11I011857 11857428 11859071 0.85 [{'connected_gene': 'ENSG00000255492', 'score': 550.77}, {'connected_gene': 'USP47', 'score': 10.5}, {'connected_gene': 'PIR48629', 'score': 0.28}]
chr11 GH11I011856 11856516 11857054 0.63 [{'connected_gene': 'ENSG00000255492', 'score': 550.77}, {'connected_gene': 'USP47', 'score': 16.45}]
chr11 GH11I011849 11849002 11850243 1.23 [{'connected_gene': 'ENSG00000255492', 'score': 0.44}, {'connected_gene': 'USP47', 'score': 0.44}]
chr11 GH11I011426 11426241 11428329 0.86 [{'connected_gene': 'ENSG00000255351', 'score': 10.12}, {'connected_gene': 'CSNK2A3', 'score': 10.12}, {'connected_gene': 'USP47', 'score': 5.09}, {'connected_gene': 'PIR58328', 'score': 0.18}, {'connected_gene': 'GALNT18', 'score': 0.08}]

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