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
ENST00000260818 [[132136369, 132136604], [132153381, 132153462], [132165318, 132165394], [132166164, 132166314], [132166741, 132166783], [132169490, 132169691], [132172141, 132172348], [132172442, 132172538], [132172909, 132173001], [132175078, 132175245], [132175344, 132175424], [132175506, 132175676], [132176112, 132176212], [132179093, 132179201], [132179893, 132180049], [132181310, 132181367], [132182539, 132182661], [132184838, 132184914], [132185142, 132185238], [132186013, 132186157], [132191988, 132192071], [132193775, 132193929], [132196632, 132196736], [132196824, 132196984], [132198070, 132198133], [132199212, 132199314], [132201069, 132201174], [132202218, 132202421], [132203431, 132203516], [132207141, 132207296], [132207819, 132207865], [132209740, 132209895], [132211257, 132211459], [132212987, 132213103], [132213931, 132214010], [132215371, 132215507], [132217969, 132218154], [132218577, 132218652], [132219637, 132219757], [132221132, 132221312], [132222057, 132222225], [132224145, 132224259], [132226080, 132226197], [132229910, 132230088], [132231851, 132231943], [132233414, 132233514], [132235265, 132235340], [132235547, 132235660], [132241671, 132241841], [132242000, 132242043], [132242383, 132242557], [132244453, 132244633], [132244984, 132245125], [132247032, 132247176], [132249841, 132249941], [132257019, 132257876]] [[132153394, 132153462], [132165318, 132165394], [132166164, 132166314], [132166741, 132166783], [132169490, 132169691], [132172141, 132172348], [132172442, 132172538], [132172909, 132173001], [132175078, 132175245], [132175344, 132175424], [132175506, 132175676], [132176112, 132176212], [132179093, 132179201], [132179893, 132180049], [132181310, 132181367], [132182539, 132182661], [132184838, 132184914], [132185142, 132185238], [132186013, 132186157], [132191988, 132192071], [132193775, 132193929], [132196632, 132196736], [132196824, 132196984], [132198070, 132198133], [132199212, 132199314], [132201069, 132201174], [132202218, 132202421], [132203431, 132203516], [132207141, 132207296], [132207819, 132207865], [132209740, 132209895], [132211257, 132211459], [132212987, 132213103], [132213931, 132214010], [132215371, 132215507], [132217969, 132218154], [132218577, 132218652], [132219637, 132219757], [132221132, 132221312], [132222057, 132222225], [132224145, 132224259], [132226080, 132226197], [132229910, 132230088], [132231851, 132231943], [132233414, 132233514], [132235265, 132235340], [132235547, 132235660], [132241671, 132241841], [132242000, 132242043], [132242383, 132242557], [132244453, 132244633], [132244984, 132245125], [132247032, 132247176], [132249841, 132249941], [132257019, 132257126]]
ENST00000509279 [[132247045, 132247176], [132249841, 132249941], [132256001, 132256110], [132257019, 132257352]] [[132247045, 132247176], [132249841, 132249941], [132256001, 132256060]]
ENST00000486798 [[132136552, 132136604], [132153381, 132153462], [132165318, 132165394], [132166164, 132166314], [132166741, 132166783], [132169490, 132169691], [132172141, 132172348], [132172442, 132172538], [132172909, 132173001], [132175078, 132175245], [132175344, 132175424], [132175506, 132175676], [132176112, 132176212], [132179093, 132179201], [132179893, 132180049], [132181310, 132181367], [132182539, 132182661], [132184838, 132184914], [132185142, 132185238], [132186013, 132186190]] None
ENST00000471925 [[132175137, 132175245], [132175344, 132175424], [132175506, 132175676], [132176112, 132177193]] None
ENST00000464766 [[132193099, 132193227], [132193775, 132193929], [132196632, 132196736], [132196824, 132196984], [132198070, 132198133], [132199212, 132199314], [132201069, 132201133]] None
ENST00000506813 [[132198070, 132198133], [132199212, 132199314], [132201069, 132201174], [132202218, 132202421], [132203206, 132203337], [132203431, 132203516], [132207141, 132207253]] [[132198070, 132198133], [132199212, 132199314], [132201069, 132201174], [132202218, 132202421], [132203206, 132203255]]
ENST00000513822 [[132231851, 132231943], [132233414, 132233660]] None
ENST00000463038 [[132241816, 132241841], [132242000, 132242043], [132242383, 132242861]] None
NM_001329126 [[132136503, 132136604], [132153381, 132153462], [132165318, 132165394], [132166164, 132166314], [132166741, 132166783], [132169490, 132169691], [132172141, 132172348], [132172442, 132172538], [132172909, 132173001], [132175078, 132175245], [132175344, 132175424], [132175506, 132175676], [132176112, 132176212], [132179093, 132179201], [132179893, 132180049], [132181310, 132181367], [132182539, 132182661], [132184838, 132184914], [132185142, 132185238], [132186013, 132186157], [132191400, 132191415], [132191988, 132192071], [132193775, 132193929], [132196632, 132196736], [132196824, 132196984], [132198070, 132198133], [132199212, 132199314], [132201069, 132201174], [132202218, 132202421], [132203431, 132203516], [132207141, 132207296], [132207819, 132207865], [132209740, 132209895], [132211257, 132211459], [132212987, 132213103], [132213931, 132214010], [132215371, 132215507], [132217969, 132218154], [132218577, 132218652], [132219637, 132219757], [132221132, 132221312], [132222057, 132222225], [132224145, 132224259], [132226080, 132226197], [132229910, 132230088], [132231851, 132231943], [132233414, 132233514], [132235265, 132235340], [132235547, 132235660], [132241671, 132241841], [132242000, 132242043], [132242383, 132242557], [132244453, 132244633], [132244984, 132245125], [132247032, 132247176], [132249841, 132249941], [132257019, 132257876]] [[132153394, 132153462], [132165318, 132165394], [132166164, 132166314], [132166741, 132166783], [132169490, 132169691], [132172141, 132172348], [132172442, 132172538], [132172909, 132173001], [132175078, 132175245], [132175344, 132175424], [132175506, 132175676], [132176112, 132176212], [132179093, 132179201], [132179893, 132180049], [132181310, 132181367], [132182539, 132182661], [132184838, 132184914], [132185142, 132185238], [132186013, 132186157], [132191400, 132191415], [132191988, 132192071], [132193775, 132193929], [132196632, 132196736], [132196824, 132196984], [132198070, 132198133], [132199212, 132199314], [132201069, 132201174], [132202218, 132202421], [132203431, 132203516], [132207141, 132207296], [132207819, 132207865], [132209740, 132209895], [132211257, 132211459], [132212987, 132213103], [132213931, 132214010], [132215371, 132215507], [132217969, 132218154], [132218577, 132218652], [132219637, 132219757], [132221132, 132221312], [132222057, 132222225], [132224145, 132224259], [132226080, 132226197], [132229910, 132230088], [132231851, 132231943], [132233414, 132233514], [132235265, 132235340], [132235547, 132235660], [132241671, 132241841], [132242000, 132242043], [132242383, 132242557], [132244453, 132244633], [132244984, 132245125], [132247032, 132247176], [132249841, 132249941], [132257019, 132257126]]
NM_015268 [[132136552, 132136604], [132153381, 132153462], [132165318, 132165394], [132166164, 132166314], [132166741, 132166783], [132169490, 132169691], [132172141, 132172348], [132172442, 132172538], [132172909, 132173001], [132175078, 132175245], [132175344, 132175424], [132175506, 132175676], [132176112, 132176212], [132179093, 132179201], [132179893, 132180049], [132181310, 132181367], [132182539, 132182661], [132184838, 132184914], [132185142, 132185238], [132186013, 132186157], [132191988, 132192071], [132193775, 132193929], [132196632, 132196736], [132196824, 132196984], [132198070, 132198133], [132199212, 132199314], [132201069, 132201174], [132202218, 132202421], [132203431, 132203516], [132207141, 132207296], [132207819, 132207865], [132209740, 132209895], [132211257, 132211459], [132212987, 132213103], [132213931, 132214010], [132215371, 132215507], [132217969, 132218154], [132218577, 132218652], [132219637, 132219757], [132221132, 132221312], [132222057, 132222225], [132224145, 132224259], [132226080, 132226197], [132229910, 132230088], [132231851, 132231943], [132233414, 132233514], [132235265, 132235340], [132235547, 132235660], [132241671, 132241841], [132242000, 132242043], [132242383, 132242557], [132244453, 132244633], [132244984, 132245125], [132247032, 132247176], [132249841, 132249941], [132257019, 132257876]] [[132153394, 132153462], [132165318, 132165394], [132166164, 132166314], [132166741, 132166783], [132169490, 132169691], [132172141, 132172348], [132172442, 132172538], [132172909, 132173001], [132175078, 132175245], [132175344, 132175424], [132175506, 132175676], [132176112, 132176212], [132179093, 132179201], [132179893, 132180049], [132181310, 132181367], [132182539, 132182661], [132184838, 132184914], [132185142, 132185238], [132186013, 132186157], [132191988, 132192071], [132193775, 132193929], [132196632, 132196736], [132196824, 132196984], [132198070, 132198133], [132199212, 132199314], [132201069, 132201174], [132202218, 132202421], [132203431, 132203516], [132207141, 132207296], [132207819, 132207865], [132209740, 132209895], [132211257, 132211459], [132212987, 132213103], [132213931, 132214010], [132215371, 132215507], [132217969, 132218154], [132218577, 132218652], [132219637, 132219757], [132221132, 132221312], [132222057, 132222225], [132224145, 132224259], [132226080, 132226197], [132229910, 132230088], [132231851, 132231943], [132233414, 132233514], [132235265, 132235340], [132235547, 132235660], [132241671, 132241841], [132242000, 132242043], [132242383, 132242557], [132244453, 132244633], [132244984, 132245125], [132247032, 132247176], [132249841, 132249941], [132257019, 132257126]]
Promoter
Chrom Start End Description
chr3 132136331 132136378 CAGE_peak_1_at_DNAJC13_5end
chr3 132136423 132136464 CAGE_peak_3_at_DNAJC13_5end
chr3 132136530 132136551 CAGE_peak_2_at_DNAJC13_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I132657 132657665 132662187 2.04 [{'connected_gene': 'ACAD11', 'score': 567.63}, {'connected_gene': 'UBA5', 'score': 550.44}, {'connected_gene': 'NPHP3', 'score': 29.95}, {'connected_gene': 'DNAJC13', 'score': 9.81}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.21}]
chr3 GH03I132562 132562953 132564529 0.51 [{'connected_gene': 'ACAD11', 'score': 17.49}, {'connected_gene': 'ACKR4', 'score': 11.49}, {'connected_gene': 'UBA5', 'score': 10.44}, {'connected_gene': 'DNAJC13', 'score': 0.11}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.1}]
chr3 GH03I132553 132553746 132554363 0.31 [{'connected_gene': 'ACAD11', 'score': 17.94}, {'connected_gene': 'ACKR4', 'score': 11.5}, {'connected_gene': 'UBA5', 'score': 10.61}, {'connected_gene': 'DNAJC13', 'score': 0.12}]
chr3 GH03I132535 132535585 132536844 0.84 [{'connected_gene': 'UBA5', 'score': 11.1}, {'connected_gene': 'ACAD11', 'score': 10.8}, {'connected_gene': 'ACKR4', 'score': 10.6}, {'connected_gene': 'DNAJC13', 'score': 6.57}]
chr3 GH03I132540 132540979 132544446 1.09 [{'connected_gene': 'UBA5', 'score': 11.66}, {'connected_gene': 'ACKR4', 'score': 10.77}, {'connected_gene': 'NPHP3', 'score': 9.86}, {'connected_gene': 'DNAJC13', 'score': 7.53}]
chr3 GH03I132565 132565900 132566997 0.2 [{'connected_gene': 'ACKR4', 'score': 0.29}, {'connected_gene': 'ACAD11', 'score': 0.16}, {'connected_gene': 'DNAJC13', 'score': 0.11}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.1}]
chr3 GH03I132569 132569257 132569406 0.58 [{'connected_gene': 'ACKR4', 'score': 11.21}, {'connected_gene': 'ACAD11', 'score': 0.16}, {'connected_gene': 'DNAJC13', 'score': 0.1}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.1}]
chr3 GH03I132577 132577617 132577766 0.38 [{'connected_gene': 'ACKR4', 'score': 0.37}, {'connected_gene': 'ACAD11', 'score': 0.18}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.11}, {'connected_gene': 'DNAJC13', 'score': 0.1}]
chr3 GH03I132573 132573544 132574420 0.2 [{'connected_gene': 'ACKR4', 'score': 11.96}, {'connected_gene': 'ACAD11', 'score': 0.17}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.11}, {'connected_gene': 'DNAJC13', 'score': 0.1}]
chr3 GH03I132554 132554577 132554706 0.2 [{'connected_gene': 'ACKR4', 'score': 11.5}, {'connected_gene': 'UBA5', 'score': 10.62}, {'connected_gene': 'ACAD11', 'score': 10.6}, {'connected_gene': 'DNAJC13', 'score': 0.12}]
chr3 GH03I132555 132555651 132557642 0.49 [{'connected_gene': 'ACKR4', 'score': 11.71}, {'connected_gene': 'UBA5', 'score': 10.62}, {'connected_gene': 'ACAD11', 'score': 10.61}, {'connected_gene': 'DNAJC13', 'score': 5.84}]
chr3 GH03I132431 132431822 132433639 0.87 [{'connected_gene': 'ACKR4', 'score': 5.74}, {'connected_gene': 'DNAJC13', 'score': 0.37}]
chr3 GH03I132593 132593181 132595472 0.69 [{'connected_gene': 'NPHP3', 'score': 14.22}, {'connected_gene': 'ACAD11', 'score': 6.52}, {'connected_gene': 'ACKR4', 'score': 0.77}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.13}, {'connected_gene': 'DNAJC13', 'score': 0.1}]
chr3 GH03I132447 132447568 132449699 0.73 [{'connected_gene': 'NPHP3', 'score': 7.38}, {'connected_gene': 'ACKR4', 'score': 5.37}, {'connected_gene': 'DNAJC13', 'score': 3.27}]
chr3 GH03I132404 132404422 132406079 0.38 [{'connected_gene': 'NPHP3', 'score': 6.97}, {'connected_gene': 'DNAJC13', 'score': 6.32}, {'connected_gene': 'ACKR4', 'score': 4.4}, {'connected_gene': 'NIP7P2', 'score': 0.77}]
chr3 GH03I132446 132444001 132444400 0.31 [{'connected_gene': 'NPHP3', 'score': 7.08}, {'connected_gene': 'DNAJC13', 'score': 0.31}, {'connected_gene': 'ACKR4', 'score': 0.1}]
chr3 GH03I132549 132549800 132551201 0.89 [{'connected_gene': 'NPHP3', 'score': 9.83}, {'connected_gene': 'DNAJC13', 'score': 7.63}, {'connected_gene': 'ACKR4', 'score': 0.25}]
chr3 GH03I132545 132545401 132545904 0.31 [{'connected_gene': 'DNAJC13', 'score': 7.46}, {'connected_gene': 'ACKR4', 'score': 0.23}]
chr3 GH03I132444 132444601 132444800 0.2 [{'connected_gene': 'DNAJC13', 'score': 5.56}, {'connected_gene': 'ACKR4', 'score': 0.1}]
chr3 GH03I132445 132445801 132446216 0.79 [{'connected_gene': 'DNAJC13', 'score': 7.48}, {'connected_gene': 'ACKR4', 'score': 0.1}]
chr3 GH03I132415 132415745 132419843 2.19 [{'connected_gene': 'DNAJC13', 'score': 553.51}, {'connected_gene': 'NPHP3', 'score': 7.16}, {'connected_gene': 'ACKR4', 'score': 0.1}]
chr3 GH03I131501 131501429 131503801 2.1 [{'connected_gene': 'MRPL3', 'score': 561.62}, {'connected_gene': 'LOC105374114', 'score': 550.77}, {'connected_gene': 'PIK3R4', 'score': 14.01}, {'connected_gene': 'ENSG00000261167', 'score': 10.91}, {'connected_gene': 'DNAJC13', 'score': 9.77}]

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