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
ENST00000369110 [[105725439, 105726313], [105729620, 105729777], [105730325, 105730457], [105733360, 105733455], [105736632, 105736769], [105771539, 105771643], [105776703, 105776901], [105781188, 105781380], [105800846, 105800952], [105816777, 105816899], [105821243, 105821453], [105823999, 105824130], [105825260, 105825394], [105845727, 105845802], [105850721, 105850959]] [[105726018, 105726313], [105729620, 105729777], [105730325, 105730457], [105733360, 105733455], [105736632, 105736769], [105771539, 105771643], [105776703, 105776901], [105781188, 105781380], [105800846, 105800952], [105816777, 105816899], [105821243, 105821453], [105823999, 105824130], [105825260, 105825394], [105845727, 105845802], [105850721, 105850766]]
ENST00000448705 [[105770129, 105770986], [105771539, 105771643]] [[105770953, 105770986], [105771539, 105771643]]
NM_002726 [[105725441, 105726313], [105729620, 105729777], [105730325, 105730457], [105733360, 105733455], [105736632, 105736769], [105771539, 105771643], [105776703, 105776901], [105781188, 105781380], [105800846, 105800952], [105816777, 105816899], [105821243, 105821453], [105823999, 105824130], [105825260, 105825394], [105845727, 105845802], [105850721, 105850999]] [[105726018, 105726313], [105729620, 105729777], [105730325, 105730457], [105733360, 105733455], [105736632, 105736769], [105771539, 105771643], [105776703, 105776901], [105781188, 105781380], [105800846, 105800952], [105816777, 105816899], [105821243, 105821453], [105823999, 105824130], [105825260, 105825394], [105845727, 105845802], [105850721, 105850766]]
Promoter
Chrom Start End Description
chr6 105850911 105850932 CAGE_peak_2_at_PREP_5end
chr6 105850937 105850983 CAGE_peak_1_at_PREP_5end
chr6 105851072 105851084 CAGE_peak_3_at_PREP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I105092 105092403 105092416 0.24 [{'connected_gene': 'PREP', 'score': 11.23}, {'connected_gene': 'POPDC3', 'score': 11.03}, {'connected_gene': 'HACE1', 'score': 1.5}, {'connected_gene': 'LIN28B', 'score': 1.35}, {'connected_gene': 'GC06P105082', 'score': 0.44}, {'connected_gene': 'BVES-AS1', 'score': 0.26}]
chr6 GH06I105194 105192806 105192955 0.58 [{'connected_gene': 'PREP', 'score': 9.98}, {'connected_gene': 'POPDC3', 'score': 0.39}, {'connected_gene': 'GC06M105240', 'score': 0.25}]
chr6 GH06I105322 105322825 105328610 0.71 [{'connected_gene': 'PREP', 'score': 15.68}, {'connected_gene': 'ENSG00000231628', 'score': 10.7}, {'connected_gene': 'POPDC3', 'score': 5.9}, {'connected_gene': 'PIR51949', 'score': 0.39}]
chr6 GH06I105190 105190771 105192065 0.2 [{'connected_gene': 'PREP', 'score': 9.98}, {'connected_gene': 'POPDC3', 'score': 0.39}, {'connected_gene': 'GC06M105240', 'score': 0.25}]
chr6 GH06I105345 105345376 105346855 0.66 [{'connected_gene': 'PREP', 'score': 15.09}, {'connected_gene': 'ENSG00000231628', 'score': 10.25}, {'connected_gene': 'POPDC3', 'score': 5.52}, {'connected_gene': 'PIR51949', 'score': 0.29}]
chr6 GH06I105452 105452438 105460516 1.55 [{'connected_gene': 'PREP', 'score': 16.06}, {'connected_gene': 'PRDM1', 'score': 10.28}, {'connected_gene': 'LOC105377921', 'score': 0.77}, {'connected_gene': 'GC06P105464', 'score': 0.44}]
chr6 GH06I105429 105429695 105430251 0.2 [{'connected_gene': 'PREP', 'score': 11.15}, {'connected_gene': 'PRDM1', 'score': 10.49}, {'connected_gene': 'GC06P105412', 'score': 0.37}, {'connected_gene': 'LOC105377921', 'score': 0.34}]
chr6 GH06I105431 105431201 105431600 0.72 [{'connected_gene': 'PREP', 'score': 11.15}, {'connected_gene': 'PRDM1', 'score': 10.49}, {'connected_gene': 'GC06P105412', 'score': 0.37}, {'connected_gene': 'LOC105377921', 'score': 0.34}]
chr6 GH06I105432 105431912 105434007 0.87 [{'connected_gene': 'PREP', 'score': 11.15}, {'connected_gene': 'PRDM1', 'score': 10.49}, {'connected_gene': 'LOC105377921', 'score': 0.34}, {'connected_gene': 'GC06P105412', 'score': 0.34}]
chr6 GH06I105192 105192984 105193700 0.63 [{'connected_gene': 'PREP', 'score': 9.98}, {'connected_gene': 'BVES', 'score': 4.88}, {'connected_gene': 'POPDC3', 'score': 0.39}, {'connected_gene': 'GC06M105240', 'score': 0.25}]
chr6 GH06I105427 105427572 105429455 0.96 [{'connected_gene': 'PREP', 'score': 15.76}, {'connected_gene': 'GC06P105412', 'score': 0.37}, {'connected_gene': 'LOC105377921', 'score': 0.31}]
chr6 GH06I105380 105380076 105381928 0.38 [{'connected_gene': 'PREP', 'score': 17.71}, {'connected_gene': 'ENSG00000231628', 'score': 10.36}, {'connected_gene': 'PIR51949', 'score': 0.2}]
chr6 GH06I105370 105370338 105375195 0.94 [{'connected_gene': 'PREP', 'score': 18.08}, {'connected_gene': 'ENSG00000231628', 'score': 10.37}, {'connected_gene': 'PIR51949', 'score': 0.22}]
chr6 GH06I105259 105259828 105261379 0.56 [{'connected_gene': 'PREP', 'score': 10.05}, {'connected_gene': 'GC06P105272', 'score': 0.39}, {'connected_gene': 'GC06M105240', 'score': 0.34}]
chr6 GH06I105358 105358616 105361010 1.15 [{'connected_gene': 'PREP', 'score': 17.62}, {'connected_gene': 'PIR51949', 'score': 0.26}]
chr6 GH06I105363 105363334 105365225 0.66 [{'connected_gene': 'PREP', 'score': 18.28}, {'connected_gene': 'PIR51949', 'score': 0.25}]
chr6 GH06I105388 105388446 105388595 0.43 [{'connected_gene': 'PREP', 'score': 0.39}, {'connected_gene': 'PIR51949', 'score': 0.19}]
chr6 GH06I105384 105384106 105384255 0.54 [{'connected_gene': 'PREP', 'score': 0.37}, {'connected_gene': 'PIR51949', 'score': 0.2}]
chr6 GH06I105401 105401383 105404195 2 [{'connected_gene': 'PREP', 'score': 558.19}, {'connected_gene': 'PIR51949', 'score': 0.17}]
chr6 GH06I105136 105135028 105135533 0.74 [{'connected_gene': 'BVES-AS1', 'score': 550.77}, {'connected_gene': 'BVES', 'score': 550.77}, {'connected_gene': 'POPDC3', 'score': 23.63}, {'connected_gene': 'PREP', 'score': 10.61}, {'connected_gene': 'GC06P105082', 'score': 0.23}]
chr6 GH06I105135 105135801 105138000 1.8 [{'connected_gene': 'BVES', 'score': 571.29}, {'connected_gene': 'BVES-AS1', 'score': 550.77}, {'connected_gene': 'POPDC3', 'score': 11.17}, {'connected_gene': 'PREP', 'score': 10.61}]
chr6 GH06I105303 105303758 105305764 0.38 [{'connected_gene': 'GC06M105303', 'score': 550.77}, {'connected_gene': 'RPL35P3', 'score': 550.77}, {'connected_gene': 'ENSG00000231628', 'score': 12.12}, {'connected_gene': 'POPDC3', 'score': 5.08}, {'connected_gene': 'PIR51949', 'score': 0.39}, {'connected_gene': 'PREP', 'score': 0.15}]
chr6 GH06I105302 105302186 105302335 0.38 [{'connected_gene': 'GC06M105303', 'score': 550.77}, {'connected_gene': 'RPL35P3', 'score': 550.77}, {'connected_gene': 'ENSG00000231628', 'score': 12.15}, {'connected_gene': 'RPL7AP35', 'score': 0.77}, {'connected_gene': 'PREP', 'score': 0.15}]
chr6 GH06I105301 105301341 105301537 0.31 [{'connected_gene': 'GC06M105303', 'score': 550.77}, {'connected_gene': 'RPL35P3', 'score': 550.77}, {'connected_gene': 'ENSG00000231628', 'score': 12.15}, {'connected_gene': 'RPL7AP35', 'score': 0.77}, {'connected_gene': 'PREP', 'score': 0.15}]
chr6 GH06I105318 105318283 105319927 0.38 [{'connected_gene': 'ENSG00000231628', 'score': 10.87}, {'connected_gene': 'PREP', 'score': 10.73}, {'connected_gene': 'PIR51949', 'score': 0.77}]
chr6 GH06I105319 105318080 105318095 0.43 [{'connected_gene': 'ENSG00000231628', 'score': 10.88}, {'connected_gene': 'PREP', 'score': 10.72}, {'connected_gene': 'PIR51949', 'score': 0.77}]
chr6 GH06I105160 105160430 105170690 1.14 [{'connected_gene': 'GC06M105161', 'score': 550.77}, {'connected_gene': 'BVES', 'score': 23.61}, {'connected_gene': 'POPDC3', 'score': 19.13}, {'connected_gene': 'PREP', 'score': 10.07}, {'connected_gene': 'BVES-AS1', 'score': 0.31}]