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
ENST00000264991 [[132373289, 132373514], [132384666, 132384712], [132384827, 132384917], [132387661, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390725], [132390893, 132391021], [132394091, 132394227], [132394448, 132394524], [132394660, 132394767], [132395286, 132396941]] [[132384673, 132384712], [132384827, 132384917], [132387661, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390725], [132390893, 132391021], [132394091, 132394227], [132394448, 132394524], [132394660, 132394767], [132395286, 132395370]]
ENST00000356232 [[132378309, 132379542], [132384666, 132384712], [132384827, 132384917], [132387661, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390725], [132390893, 132391021], [132394091, 132394227], [132394448, 132394524], [132394660, 132394767], [132395286, 132396788]] [[132379381, 132379542], [132384666, 132384712], [132384827, 132384917], [132387661, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390725], [132390893, 132391021], [132394091, 132394227], [132394448, 132394524], [132394660, 132394767], [132395286, 132395370]]
ENST00000493720 [[132378789, 132379542], [132384666, 132384712], [132384827, 132384917], [132387661, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390725], [132390893, 132391021], [132394091, 132394227], [132394448, 132394524], [132394660, 132394767], [132395698, 132396033]] [[132379381, 132379542], [132384666, 132384712], [132384827, 132384917], [132387661, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390725], [132390893, 132391021], [132394091, 132394227], [132394448, 132394524], [132394660, 132394767], [132395698, 132395701]]
ENST00000468022 [[132379153, 132379321], [132379444, 132379542], [132379742, 132379892], [132384666, 132384712], [132384827, 132384917], [132387661, 132387771]] [[132384673, 132384712], [132384827, 132384917], [132387661, 132387771]]
ENST00000464101 [[132379186, 132379542], [132384666, 132384712], [132384827, 132384995]] None
ENST00000473651 [[132379203, 132379542], [132384666, 132384712], [132384827, 132384917], [132387661, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390725], [132390893, 132391021], [132394091, 132394227], [132394448, 132394524], [132395286, 132395597]] [[132379381, 132379542], [132384666, 132384712], [132384827, 132384917], [132387661, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390725], [132390893, 132391021], [132394091, 132394227], [132394448, 132394524], [132395286, 132395306]]
ENST00000494238 [[132379205, 132379892], [132384666, 132384712], [132384827, 132384917], [132387661, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390725], [132390893, 132391021], [132394091, 132394227], [132394448, 132394524], [132394660, 132394767], [132395286, 132396626]] [[132384673, 132384712], [132384827, 132384917], [132387661, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390725], [132390893, 132391021], [132394091, 132394227], [132394448, 132394524], [132394660, 132394767], [132395286, 132395370]]
ENST00000505777 [[132379239, 132379542], [132387661, 132387771], [132389041, 132389128], [132389808, 132389884]] [[132379381, 132379542], [132387661, 132387695]]
ENST00000464068 [[132379540, 132379892], [132387661, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390643]] [[132379865, 132379892], [132387661, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390643]]
ENST00000480955 [[132378761, 132378894], [132379028, 132379789]] None
ENST00000489361 [[132384582, 132384712], [132384827, 132384917], [132387661, 132387771], [132389041, 132389128]] [[132384673, 132384712], [132384827, 132384917], [132387661, 132387771], [132389041, 132389128]]
ENST00000468227 [[132386101, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132391021], [132394091, 132394227], [132394448, 132394524], [132394660, 132394767], [132395286, 132396626]] None
ENST00000469158 [[132389525, 132389893], [132390620, 132390725], [132390893, 132391004]] None
ENST00000494112 [[132394225, 132394524], [132394660, 132394767], [132395286, 132395385]] None
NM_198329 [[132373289, 132373514], [132384666, 132384712], [132384827, 132384917], [132387661, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390725], [132390893, 132391021], [132394091, 132394227], [132394448, 132394524], [132394660, 132394767], [132395286, 132396951]] [[132384673, 132384712], [132384827, 132384917], [132387661, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390725], [132390893, 132391021], [132394091, 132394227], [132394448, 132394524], [132394660, 132394767], [132395286, 132395370]]
NM_001321239 [[132378340, 132379542], [132387661, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390725], [132390893, 132391021], [132394091, 132394227], [132394448, 132394524], [132394660, 132394767], [132395286, 132396951]] [[132387700, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390725], [132390893, 132391021], [132394091, 132394227], [132394448, 132394524], [132394660, 132394767], [132395286, 132395370]]
NM_024818 [[132378340, 132379542], [132384666, 132384712], [132384827, 132384917], [132387661, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390725], [132390893, 132391021], [132394091, 132394227], [132394448, 132394524], [132394660, 132394767], [132395286, 132396951]] [[132379381, 132379542], [132384666, 132384712], [132384827, 132384917], [132387661, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390725], [132390893, 132391021], [132394091, 132394227], [132394448, 132394524], [132394660, 132394767], [132395286, 132395370]]
NM_001321238 [[132379540, 132379892], [132387661, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390725], [132390893, 132391021], [132394091, 132394227], [132394448, 132394524], [132394660, 132394767], [132395286, 132396951]] [[132379865, 132379892], [132387661, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390725], [132390893, 132391021], [132394091, 132394227], [132394448, 132394524], [132394660, 132394767], [132395286, 132395370]]
NM_001320210 [[132379540, 132379892], [132384666, 132384712], [132384827, 132384917], [132387661, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390725], [132390893, 132391021], [132394091, 132394227], [132394448, 132394524], [132394660, 132394767], [132395286, 132396951]] [[132384673, 132384712], [132384827, 132384917], [132387661, 132387771], [132389041, 132389128], [132389808, 132389893], [132390620, 132390725], [132390893, 132391021], [132394091, 132394227], [132394448, 132394524], [132394660, 132394767], [132395286, 132395370]]
Promoter
Chrom Start End Description
chr3 132373268 132373278 CAGE_peak_13_at_UBA5_5end
chr3 132378741 132378799 CAGE_peak_2_at_UBA5_5end
chr3 132378800 132378817 CAGE_peak_3_at_UBA5_5end
chr3 132378818 132378834 CAGE_peak_4_at_UBA5_5end
chr3 132379165 132379256 CAGE_peak_1_at_UBA5_5end
chr3 132379356 132379382 CAGE_peak_5_at_UBA5_5end
chr3 132379721 132379755 CAGE_peak_6_at_UBA5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I132662 132662277 132662426 0.64 [{'connected_gene': 'ACAD11', 'score': 550.77}, {'connected_gene': 'UBA5', 'score': 0.44}, {'connected_gene': 'NPHP3-AS1', 'score': 0.22}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.21}]
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 GH03I132629 132629308 132630952 0.66 [{'connected_gene': 'UBA5', 'score': 11.17}, {'connected_gene': 'ACAD11', 'score': 11.13}, {'connected_gene': 'HSPA8P19', 'score': 0.37}, {'connected_gene': 'ACKR4', 'score': 0.29}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.16}]
chr3 GH03I132311 132311788 132311800 0.22 [{'connected_gene': 'UBA5', 'score': 3.96}, {'connected_gene': 'ACPP', 'score': 0.44}, {'connected_gene': 'CPNE4', 'score': 0.31}]
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 GH03I132605 132605063 132607005 0.2 [{'connected_gene': 'UBA5', 'score': 10.36}, {'connected_gene': 'ACKR4', 'score': 0.44}, {'connected_gene': 'HSPA8P19', 'score': 0.28}, {'connected_gene': 'ACAD11', 'score': 0.23}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.13}]
chr3 GH03I132654 132654098 132656272 1.27 [{'connected_gene': 'UBA5', 'score': 550.77}, {'connected_gene': 'NPHP3', 'score': 9.44}, {'connected_gene': 'ACAD11', 'score': 6.44}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.2}]
chr3 GH03I132653 132653037 132653186 0.31 [{'connected_gene': 'UBA5', 'score': 550.77}, {'connected_gene': 'HSPA8P19', 'score': 0.44}, {'connected_gene': 'ACAD11', 'score': 0.44}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.2}]
chr3 GH03I133068 133068670 133068755 0.22 [{'connected_gene': 'TMEM108', 'score': 15.79}, {'connected_gene': 'ENSG00000249725', 'score': 11.01}, {'connected_gene': 'TMEM108-AS1', 'score': 10.3}, {'connected_gene': 'UBA5', 'score': 3.36}]
chr3 GH03I133568 133567881 133576833 2.48 [{'connected_gene': 'CDV3', 'score': 556.32}, {'connected_gene': 'SRPRB', 'score': 9.46}, {'connected_gene': 'TFP1', 'score': 6.32}, {'connected_gene': 'RAB6B', 'score': 5.0}, {'connected_gene': 'NPHP3', 'score': 4.62}, {'connected_gene': 'UBA5', 'score': 4.14}, {'connected_gene': 'GC03P133569', 'score': 0.77}]
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 GH03I132667 132667457 132669164 0.67 [{'connected_gene': 'NPHP3', 'score': 4.36}, {'connected_gene': 'ACAD11', 'score': 0.44}, {'connected_gene': 'UBA5', 'score': 0.39}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.23}, {'connected_gene': 'NPHP3-AS1', 'score': 0.23}]
chr3 GH03I132242 132242991 132243300 0.24 [{'connected_gene': 'GC03M132244', 'score': 550.77}, {'connected_gene': 'RPL7P16', 'score': 550.77}, {'connected_gene': 'UBA5', 'score': 5.3}, {'connected_gene': 'TRC-GCA9-1', 'score': 0.39}, {'connected_gene': 'CPNE4', 'score': 0.26}]

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