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
ENST00000343245 [[106632350, 106634551], [106649846, 106649964], [106696024, 106696119], [106727535, 106727698], [106740902, 106740981], [106756238, 106756366], [106763975, 106764141], [106773150, 106773292]] [[106634414, 106634551], [106649846, 106649964], [106696024, 106696119], [106727535, 106727698], [106740902, 106740981], [106756238, 106756366], [106763975, 106764083]]
ENST00000369070 [[106632350, 106634551], [106649846, 106649964], [106696024, 106696119], [106727535, 106727698], [106740902, 106740981], [106763975, 106764141], [106773400, 106773666]] [[106634414, 106634551], [106649846, 106649964], [106696024, 106696119], [106727535, 106727698], [106740902, 106740981], [106763975, 106763977]]
ENST00000369076 [[106632350, 106634551], [106649846, 106649964], [106696024, 106696119], [106727535, 106727698], [106740902, 106740981], [106756238, 106756366], [106763975, 106764141], [106773400, 106773666]] [[106634414, 106634551], [106649846, 106649964], [106696024, 106696119], [106727535, 106727698], [106740902, 106740981], [106756238, 106756366], [106763975, 106764083]]
ENST00000360666 [[106632365, 106634551], [106649846, 106649964], [106696024, 106696119], [106763975, 106764141], [106773400, 106773532]] [[106649891, 106649964], [106696024, 106696119], [106763975, 106764083]]
ENST00000476518 [[106649620, 106649964], [106696024, 106696119], [106727535, 106727698]] None
ENST00000475645 [[106632350, 106634551], [106649846, 106650304]] None
NR_104402 [[106632350, 106634551], [106649846, 106649964], [106727535, 106727698], [106740902, 106740981], [106756238, 106756366], [106763975, 106764141]] None
NR_104403 [[106632350, 106634551], [106649846, 106649964], [106727535, 106727698], [106740902, 106740981], [106763975, 106764141]] None
NM_001286106 [[106632350, 106634551], [106649846, 106649964], [106696024, 106696119], [106727535, 106727698], [106740902, 106740981], [106756238, 106756366], [106763975, 106764141], [106773150, 106773310]] [[106634414, 106634551], [106649846, 106649964], [106696024, 106696119], [106727535, 106727698], [106740902, 106740981], [106756238, 106756366], [106763975, 106764083]]
NM_004849 [[106632350, 106634551], [106649846, 106649964], [106696024, 106696119], [106727535, 106727698], [106740902, 106740981], [106756238, 106756366], [106763975, 106764141], [106773400, 106773695]] [[106634414, 106634551], [106649846, 106649964], [106696024, 106696119], [106727535, 106727698], [106740902, 106740981], [106756238, 106756366], [106763975, 106764083]]
NM_001286108 [[106632350, 106634551], [106649846, 106649964], [106696024, 106696115], [106727535, 106727698], [106740902, 106740981], [106756238, 106756366], [106763975, 106764141], [106773400, 106773695]] [[106649891, 106649964], [106696024, 106696115], [106727535, 106727698], [106740902, 106740981], [106756238, 106756366], [106763975, 106764083]]
NM_001286107 [[106632350, 106634551], [106649846, 106649964], [106696024, 106696119], [106727535, 106727698], [106740902, 106740981], [106763975, 106764141], [106773400, 106773695]] [[106634414, 106634551], [106649846, 106649964], [106696024, 106696119], [106727535, 106727698], [106740902, 106740981], [106763975, 106763977]]
NM_001286111 [[106632350, 106634551], [106649846, 106649964], [106696024, 106696119], [106763975, 106764141], [106773400, 106773695]] [[106649891, 106649964], [106696024, 106696119], [106763975, 106764083]]
Promoter
Chrom Start End Description
chr6 106773291 106773313 CAGE_peak_3_at_ATG5_5end
chr6 106773491 106773559 CAGE_peak_1_at_ATG5_5end
chr6 106773585 106773598 CAGE_peak_4_at_ATG5_5end
chr6 106773610 106773700 CAGE_peak_2_at_ATG5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I106044 106044275 106057438 1.2 [{'connected_gene': 'ATG5', 'score': 11.2}, {'connected_gene': 'PRDM1', 'score': 11.17}, {'connected_gene': 'GC06M106046', 'score': 0.77}]
chr6 GH06I106324 106324365 106326755 2.1 [{'connected_gene': 'ATG5', 'score': 550.77}, {'connected_gene': 'BEND3', 'score': 11.78}, {'connected_gene': 'RNU6-344P', 'score': 0.34}]
chr6 GH06I106556 106556506 106556635 0.74 [{'connected_gene': 'ATG5', 'score': 10.16}, {'connected_gene': 'QRSL1', 'score': 6.39}, {'connected_gene': 'GC06P106541', 'score': 0.37}, {'connected_gene': 'GC06P106588', 'score': 0.29}, {'connected_gene': 'CRYBG1', 'score': 0.08}]
chr6 GH06I106091 106091001 106091200 0.4 [{'connected_gene': 'ATG5', 'score': 9.97}, {'connected_gene': 'RNU6-344P', 'score': 9.95}, {'connected_gene': 'PRDM1', 'score': 0.77}, {'connected_gene': 'ENSG00000269919', 'score': 0.44}]
chr6 GH06I106092 106092127 106092324 0.53 [{'connected_gene': 'ATG5', 'score': 9.97}, {'connected_gene': 'RNU6-344P', 'score': 9.95}, {'connected_gene': 'PRDM1', 'score': 3.93}, {'connected_gene': 'ENSG00000269919', 'score': 0.44}]
chr6 GH06I106339 106339202 106340076 0.88 [{'connected_gene': 'ATG5', 'score': 0.39}, {'connected_gene': 'ENSG00000233941', 'score': 0.34}]
chr6 GH06I106093 106093356 106095039 0.86 [{'connected_gene': 'PRDM1', 'score': 13.27}, {'connected_gene': 'ATG5', 'score': 11.21}, {'connected_gene': 'RNU6-344P', 'score': 9.96}, {'connected_gene': 'ENSG00000269919', 'score': 0.44}]
chr6 GH06I105752 105752643 105754161 0.63 [{'connected_gene': 'PRDM1', 'score': 10.35}, {'connected_gene': 'ATG5', 'score': 9.94}, {'connected_gene': 'GC06M105742', 'score': 0.44}, {'connected_gene': 'GC06M105786', 'score': 0.29}, {'connected_gene': 'LOC105377923', 'score': 0.12}]
chr6 GH06I105803 105803171 105806038 1.58 [{'connected_gene': 'PRDM1', 'score': 24.47}, {'connected_gene': 'ATG5', 'score': 11.17}, {'connected_gene': 'GC06M105786', 'score': 0.37}, {'connected_gene': 'LOC105377923', 'score': 0.17}]
chr6 GH06I106144 106144610 106148999 0.77 [{'connected_gene': 'PRDM1', 'score': 10.89}, {'connected_gene': 'ATG5', 'score': 10.24}, {'connected_gene': 'ENSG00000269919', 'score': 0.25}, {'connected_gene': 'PIR35075', 'score': 0.17}]
chr6 GH06I106145 106144101 106144399 0.42 [{'connected_gene': 'PRDM1', 'score': 10.66}, {'connected_gene': 'ATG5', 'score': 10.24}, {'connected_gene': 'ENSG00000269919', 'score': 0.26}, {'connected_gene': 'PIR35075', 'score': 0.17}]
chr6 GH06I106158 106158638 106160552 0.58 [{'connected_gene': 'PRDM1', 'score': 11.03}, {'connected_gene': 'ATG5', 'score': 9.9}, {'connected_gene': 'ENSG00000269919', 'score': 0.22}, {'connected_gene': 'PIR35075', 'score': 0.19}]
chr6 GH06I106117 106116572 106118375 1.2 [{'connected_gene': 'PRDM1', 'score': 18.09}, {'connected_gene': 'ATG5', 'score': 2.21}, {'connected_gene': 'ENSG00000269919', 'score': 0.37}, {'connected_gene': 'PIR35075', 'score': 0.13}]
chr6 GH06I106141 106141223 106143761 1.39 [{'connected_gene': 'PRDM1', 'score': 10.66}, {'connected_gene': 'ATG5', 'score': 10.24}, {'connected_gene': 'ENSG00000269919', 'score': 0.26}, {'connected_gene': 'PIR35075', 'score': 0.16}]
chr6 GH06I106193 106193955 106198076 1.07 [{'connected_gene': 'PRDM1', 'score': 23.34}, {'connected_gene': 'ATG5', 'score': 5.41}, {'connected_gene': 'PIR35075', 'score': 0.28}, {'connected_gene': 'ENSG00000269919', 'score': 0.15}]
chr6 GH06I106156 106156363 106158189 0.46 [{'connected_gene': 'PRDM1', 'score': 10.92}, {'connected_gene': 'ENSG00000269919', 'score': 0.22}, {'connected_gene': 'PIR35075', 'score': 0.18}, {'connected_gene': 'ATG5', 'score': 0.1}]
chr6 GH06I106128 106128920 106130550 1.15 [{'connected_gene': 'PRDM1', 'score': 10.89}, {'connected_gene': 'ENSG00000269919', 'score': 0.31}, {'connected_gene': 'PIR35075', 'score': 0.15}, {'connected_gene': 'ATG5', 'score': 0.08}]
chr6 GH06I106181 106181476 106182850 0.8 [{'connected_gene': 'PRDM1', 'score': 11.12}, {'connected_gene': 'PIR35075', 'score': 0.23}, {'connected_gene': 'ENSG00000269919', 'score': 0.18}, {'connected_gene': 'ATG5', 'score': 0.11}]
chr6 GH06I106149 106149566 106149715 0.43 [{'connected_gene': 'PRDM1', 'score': 10.89}, {'connected_gene': 'ENSG00000269919', 'score': 0.25}, {'connected_gene': 'PIR35075', 'score': 0.18}, {'connected_gene': 'ATG5', 'score': 0.1}]
chr6 GH06I106155 106155386 106155862 0.95 [{'connected_gene': 'PRDM1', 'score': 10.93}, {'connected_gene': 'ENSG00000269919', 'score': 0.22}, {'connected_gene': 'PIR35075', 'score': 0.18}, {'connected_gene': 'ATG5', 'score': 0.09}]
chr6 GH06I106162 106162487 106165526 1.53 [{'connected_gene': 'PRDM1', 'score': 39.07}, {'connected_gene': 'ENSG00000269919', 'score': 0.21}, {'connected_gene': 'PIR35075', 'score': 0.2}, {'connected_gene': 'ATG5', 'score': 0.1}]
chr6 GH06I106137 106137629 106139035 0.38 [{'connected_gene': 'PRDM1', 'score': 10.73}, {'connected_gene': 'ENSG00000269919', 'score': 0.28}, {'connected_gene': 'PIR35075', 'score': 0.16}, {'connected_gene': 'ATG5', 'score': 0.09}]
chr6 GH06I106096 106096670 106104209 2.67 [{'connected_gene': 'PRDM1', 'score': 568.16}, {'connected_gene': 'ENSG00000269919', 'score': 550.77}, {'connected_gene': 'PIR35075', 'score': 0.12}, {'connected_gene': 'ATG5', 'score': 0.07}]
chr6 GH06I106114 106114237 106115198 1.05 [{'connected_gene': 'PRDM1', 'score': 11.16}, {'connected_gene': 'ENSG00000269919', 'score': 0.39}, {'connected_gene': 'PIR35075', 'score': 0.13}, {'connected_gene': 'ATG5', 'score': 0.08}]
chr6 GH06I106134 106134119 106135800 1.56 [{'connected_gene': 'PRDM1', 'score': 10.88}, {'connected_gene': 'ENSG00000269919', 'score': 0.29}, {'connected_gene': 'PIR35075', 'score': 0.15}, {'connected_gene': 'ATG5', 'score': 0.08}]
chr6 GH06I106062 106062958 106064626 0.38 [{'connected_gene': 'PRDM1', 'score': 12.0}, {'connected_gene': 'GC06M106046', 'score': 0.37}, {'connected_gene': 'ATG5', 'score': 0.07}]
chr6 GH06I106106 106106273 106107279 0.38 [{'connected_gene': 'PRDM1', 'score': 11.12}, {'connected_gene': 'ENSG00000269919', 'score': 0.44}, {'connected_gene': 'PIR35075', 'score': 0.13}, {'connected_gene': 'ATG5', 'score': 0.08}]
chr6 GH06I106069 106069626 106069775 0.85 [{'connected_gene': 'PRDM1', 'score': 0.37}, {'connected_gene': 'GC06M106046', 'score': 0.34}, {'connected_gene': 'ATG5', 'score': 0.07}]
chr6 GH06I106199 106199267 106200967 0.38 [{'connected_gene': 'PRDM1', 'score': 10.18}, {'connected_gene': 'PIR35075', 'score': 0.29}, {'connected_gene': 'ENSG00000269919', 'score': 0.15}, {'connected_gene': 'ATG5', 'score': 0.13}]
chr6 GH06I106125 106125716 106126908 1.49 [{'connected_gene': 'PRDM1', 'score': 22.09}, {'connected_gene': 'ENSG00000269919', 'score': 0.31}, {'connected_gene': 'PIR35075', 'score': 0.14}, {'connected_gene': 'ATG5', 'score': 0.08}]
chr6 GH06I106166 106166985 106167679 0.91 [{'connected_gene': 'PRDM1', 'score': 11.01}, {'connected_gene': 'ENSG00000269919', 'score': 0.2}, {'connected_gene': 'PIR35075', 'score': 0.2}, {'connected_gene': 'ATG5', 'score': 0.1}]
chr6 GH06I106223 106223426 106223575 0.6 [{'connected_gene': 'PRDM1', 'score': 11.14}, {'connected_gene': 'PIR35075', 'score': 0.44}, {'connected_gene': 'ATG5', 'score': 0.15}, {'connected_gene': 'ENSG00000269919', 'score': 0.13}]
chr6 GH06I106119 106119011 106120805 0.92 [{'connected_gene': 'PRDM1', 'score': 11.84}, {'connected_gene': 'ENSG00000269919', 'score': 0.37}, {'connected_gene': 'PIR35075', 'score': 0.14}, {'connected_gene': 'ATG5', 'score': 0.08}]
chr6 GH06I106082 106082383 106090474 2.69 [{'connected_gene': 'PRDM1', 'score': 573.21}, {'connected_gene': 'RNU6-344P', 'score': 10.85}, {'connected_gene': 'ENSG00000269919', 'score': 0.39}, {'connected_gene': 'ATG5', 'score': 0.07}]
chr6 GH06I106261 106261946 106262035 0.8 [{'connected_gene': 'BEND3', 'score': 4.61}, {'connected_gene': 'ENSG00000273744', 'score': 0.44}, {'connected_gene': 'PIR35075', 'score': 0.31}, {'connected_gene': 'ATG5', 'score': 0.21}]
chr6 GH06I106509 106509487 106517200 2.38 [{'connected_gene': 'BEND3', 'score': 20.41}, {'connected_gene': 'SOBP', 'score': 20.03}, {'connected_gene': 'ATG5', 'score': 19.43}, {'connected_gene': 'CRYBG1', 'score': 12.85}, {'connected_gene': 'QRSL1', 'score': 9.18}, {'connected_gene': 'LOC101927405', 'score': 0.39}, {'connected_gene': 'GC06P106528', 'score': 0.37}]
chr6 GH06I106389 106389726 106390758 0.4 [{'connected_gene': 'CRYBG1', 'score': 11.64}, {'connected_gene': 'ENSG00000233941', 'score': 11.62}, {'connected_gene': 'ATG5', 'score': 10.62}, {'connected_gene': 'GC06P106421', 'score': 0.29}]
chr6 GH06I106517 106517601 106529342 1.68 [{'connected_gene': 'CRYBG1', 'score': 16.05}, {'connected_gene': 'PRDM1', 'score': 8.77}, {'connected_gene': 'QRSL1', 'score': 7.33}, {'connected_gene': 'ATG5', 'score': 2.95}, {'connected_gene': 'GC06P106528', 'score': 0.44}, {'connected_gene': 'LOC101927405', 'score': 0.34}]
chr6 GH06I106311 106311137 106311753 0.31 [{'connected_gene': 'RNU6-344P', 'score': 0.44}, {'connected_gene': 'ATG5', 'score': 0.39}]
chr6 GH06I106309 106309197 106310885 0.74 [{'connected_gene': 'RNU6-344P', 'score': 0.44}, {'connected_gene': 'ATG5', 'score': 0.37}]
chr6 GH06I106328 106328918 106328947 0.22 [{'connected_gene': 'RNU6-344P', 'score': 11.97}, {'connected_gene': 'ENSG00000233941', 'score': 11.83}, {'connected_gene': 'CRYBG1', 'score': 11.83}, {'connected_gene': 'ATG5', 'score': 0.77}]
chr6 GH06I106192 106192420 106193571 0.63 [{'connected_gene': 'PIR35075', 'score': 0.26}, {'connected_gene': 'ENSG00000269919', 'score': 0.16}, {'connected_gene': 'ATG5', 'score': 0.12}]
chr6 GH06I106116 106116286 106116435 0.4 [{'connected_gene': 'ENSG00000269919', 'score': 0.37}, {'connected_gene': 'PIR35075', 'score': 0.13}, {'connected_gene': 'ATG5', 'score': 0.08}]
chr6 GH06I106252 106252677 106254271 0.72 [{'connected_gene': 'ENSG00000273744', 'score': 0.37}, {'connected_gene': 'PIR35075', 'score': 0.34}, {'connected_gene': 'ATG5', 'score': 0.19}]

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