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
ENST00000344788 [[50786435, 50786685], [50789846, 50789873], [50791119, 50791578], [50796331, 50796392]] [[50786637, 50786685], [50789846, 50789873], [50791119, 50791578], [50796331, 50796392]]
ENST00000393655 [[50786435, 50786685], [50791119, 50791578], [50796331, 50796392], [50803773, 50803993], [50805687, 50805806], [50807868, 50808010], [50810804, 50815326]] [[50786604, 50786685], [50791119, 50791578], [50796331, 50796392], [50803773, 50803993], [50805687, 50805806], [50807868, 50808010], [50810804, 50811105]]
ENST00000263046 [[50786438, 50786685], [50789846, 50789873], [50791119, 50791578], [50796331, 50796392], [50803773, 50803993], [50805687, 50805806], [50807868, 50808010], [50810804, 50815326]] [[50786604, 50786685], [50789846, 50789873], [50791119, 50791578], [50796331, 50796392], [50803773, 50803993], [50805687, 50805806], [50807868, 50808010], [50810804, 50811105]]
ENST00000489228 [[50789497, 50789873], [50791119, 50791578]] None
NM_003221 [[50786438, 50786685], [50791119, 50791578], [50796331, 50796392], [50803773, 50803993], [50805687, 50805806], [50807868, 50808010], [50810804, 50815326]] [[50786604, 50786685], [50791119, 50791578], [50796331, 50796392], [50803773, 50803993], [50805687, 50805806], [50807868, 50808010], [50810804, 50811105]]
Promoter
Chrom Start End Description
chr6 50786057 50786069 CAGE_peak_9_at_TFAP2B_5end
chr6 50786414 50786426 CAGE_peak_7_at_TFAP2B_5end
chr6 50786479 50786490 CAGE_peak_6_at_TFAP2B_5end
chr6 50786509 50786527 CAGE_peak_5_at_TFAP2B_5end
chr6 50786529 50786540 CAGE_peak_8_at_TFAP2B_5end
chr6 50786547 50786564 CAGE_peak_3_at_TFAP2B_5end
chr6 50786571 50786590 CAGE_peak_2_at_TFAP2B_5end
chr6 50786591 50786614 CAGE_peak_1_at_TFAP2B_5end
chr6 50786631 50786635 CAGE_peak_11_at_TFAP2B_5end
chr6 50789547 50789550 CAGE_peak_12_at_TFAP2B_5end
chr6 50789717 50789729 CAGE_peak_4_at_TFAP2B_5end
chr6 50789737 50789746 CAGE_peak_10_at_TFAP2B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I050818 50818752 50818811 0.79 [{'connected_gene': 'TFAP2B', 'score': 550.77}, {'connected_gene': 'RPS17P5', 'score': 0.28}]
chr6 GH06I050831 50831176 50831394 0.51 [{'connected_gene': 'TFAP2B', 'score': 0.39}, {'connected_gene': 'RPS17P5', 'score': 0.31}]
chr6 GH06I050820 50820297 50821915 0.6 [{'connected_gene': 'TFAP2B', 'score': 7.11}, {'connected_gene': 'RPS17P5', 'score': 0.28}]
chr6 GH06I050824 50824668 50824817 0.49 [{'connected_gene': 'TFAP2B', 'score': 0.44}, {'connected_gene': 'RPS17P5', 'score': 0.29}]
chr6 GH06I050841 50841990 50843376 0.46 [{'connected_gene': 'TFAP2B', 'score': 6.6}, {'connected_gene': 'RPS17P5', 'score': 0.37}]
chr6 GH06I050850 50850307 50850781 0.6 [{'connected_gene': 'TFAP2B', 'score': 11.8}, {'connected_gene': 'RPS17P5', 'score': 0.44}]
chr6 GH06I050815 50815602 50816399 1 [{'connected_gene': 'TFAP2B', 'score': 550.77}, {'connected_gene': 'LOC105375084', 'score': 0.37}]
chr6 GH06I050843 50843948 50844097 0.57 [{'connected_gene': 'RPS17P5', 'score': 0.39}, {'connected_gene': 'TFAP2B', 'score': 0.31}]
chr6 GH06I050854 50854028 50854349 0.51 [{'connected_gene': 'RPS17P5', 'score': 0.77}, {'connected_gene': 'TFAP2B', 'score': 0.28}]

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