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
ENST00000254190 [[101715927, 101719185], [101775286, 101775782], [101791341, 101792137]] [[101717592, 101719185], [101775286, 101775782], [101791341, 101791661]]
ENST00000543813 [[101717305, 101719185], [101728197, 101728266]] None
ENST00000560766 [[101718781, 101719185], [101726883, 101726999], [101728197, 101728230]] None
ENST00000561414 [[101718806, 101719185], [101727890, 101728075]] None
ENST00000561143 [[101727745, 101728424], [101729632, 101729772]] None
ENST00000559384 [[101775713, 101775782], [101782752, 101782822]] None
NM_014918 [[101715927, 101719185], [101775286, 101775782], [101791341, 101792137]] [[101717592, 101719185], [101775286, 101775782], [101791341, 101791661]]
Promoter
Chrom Start End Description
chr15 101782981 101783002 CAGE_peak_10_at_CHSY1_5end
chr15 101792139 101792159 CAGE_peak_1_at_CHSY1_5end
chr15 101792171 101792190 CAGE_peak_2_at_CHSY1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I101320 101320222 101321444 1.05 [{'connected_gene': 'TM2D3', 'score': 9.26}, {'connected_gene': 'CHSY1', 'score': 1.88}, {'connected_gene': 'PIR41543', 'score': 0.44}, {'connected_gene': 'PCSK6-AS1', 'score': 0.39}, {'connected_gene': 'PCSK6', 'score': 0.08}]
chr15 GH15I101006 101006802 101009200 1.4 [{'connected_gene': 'LRRK1', 'score': 13.14}, {'connected_gene': 'CHSY1', 'score': 12.38}, {'connected_gene': 'ALDH1A3', 'score': 10.93}, {'connected_gene': 'PIR34573', 'score': 0.39}, {'connected_gene': 'LOC101927751', 'score': 0.17}]
chr15 GH15I100997 100997076 100997936 0.51 [{'connected_gene': 'LRRK1', 'score': 11.92}, {'connected_gene': 'CHSY1', 'score': 10.49}, {'connected_gene': 'PIR34573', 'score': 0.34}, {'connected_gene': 'LOC101927751', 'score': 0.18}]
chr15 GH15I101000 101000356 101000505 0.51 [{'connected_gene': 'LRRK1', 'score': 12.77}, {'connected_gene': 'CHSY1', 'score': 11.22}, {'connected_gene': 'PIR34573', 'score': 0.34}, {'connected_gene': 'LOC101927751', 'score': 0.18}]
chr15 GH15I100999 100999232 101000125 0.4 [{'connected_gene': 'LRRK1', 'score': 12.77}, {'connected_gene': 'CHSY1', 'score': 11.22}, {'connected_gene': 'PIR34573', 'score': 0.34}, {'connected_gene': 'LOC101927751', 'score': 0.18}]
chr15 GH15I100944 100944084 100944668 0.66 [{'connected_gene': 'LRRK1', 'score': 12.93}, {'connected_gene': 'CHSY1', 'score': 10.7}, {'connected_gene': 'LOC101927751', 'score': 0.31}, {'connected_gene': 'PIR34573', 'score': 0.18}]
chr15 GH15I100966 100966049 100970131 0.73 [{'connected_gene': 'LRRK1', 'score': 12.02}, {'connected_gene': 'ALDH1A3', 'score': 10.52}, {'connected_gene': 'CHSY1', 'score': 9.9}, {'connected_gene': 'LOC101927751', 'score': 0.25}, {'connected_gene': 'PIR34573', 'score': 0.23}]
chr15 GH15I100939 100939916 100942208 1.41 [{'connected_gene': 'LRRK1', 'score': 14.71}, {'connected_gene': 'CERS3-AS1', 'score': 14.01}, {'connected_gene': 'LOC100419174', 'score': 13.75}, {'connected_gene': 'LINS1', 'score': 13.11}, {'connected_gene': 'CHSY1', 'score': 10.7}, {'connected_gene': 'LOC101927751', 'score': 0.34}, {'connected_gene': 'PIR34573', 'score': 0.18}]
chr15 GH15I101445 101445242 101447504 1.72 [{'connected_gene': 'SNRPA1', 'score': 13.5}, {'connected_gene': 'PRKXP1', 'score': 13.11}, {'connected_gene': 'TM2D3', 'score': 13.06}, {'connected_gene': 'LINS1', 'score': 12.22}, {'connected_gene': 'LOC100419174', 'score': 11.16}, {'connected_gene': 'ASB7', 'score': 9.94}, {'connected_gene': 'ENSG00000270127', 'score': 9.74}, {'connected_gene': 'WASH3P', 'score': 9.66}, {'connected_gene': 'PCSK6', 'score': 6.2}, {'connected_gene': 'CHSY1', 'score': 1.76}, {'connected_gene': 'PIR54076', 'score': 0.37}, {'connected_gene': 'LOC105371028', 'score': 0.22}]
chr15 GH15I101275 101275966 101279175 2.3 [{'connected_gene': 'SELENOS', 'score': 550.77}, {'connected_gene': 'PIR47639', 'score': 550.77}, {'connected_gene': 'CHSY1', 'score': 11.78}, {'connected_gene': 'RNU6-807P', 'score': 10.7}, {'connected_gene': 'SNRPA1', 'score': 0.37}]
chr15 GH15I101254 101254670 101256650 1.16 [{'connected_gene': 'LINS1', 'score': 20.23}, {'connected_gene': 'CERS3-AS1', 'score': 12.4}, {'connected_gene': 'SNRPA1', 'score': 11.76}, {'connected_gene': 'LRRK1', 'score': 11.52}, {'connected_gene': 'LOC100419174', 'score': 10.54}, {'connected_gene': 'LOC100128108', 'score': 10.5}, {'connected_gene': 'ASB7', 'score': 10.06}, {'connected_gene': 'CHSY1', 'score': 0.77}, {'connected_gene': 'GC15M101273', 'score': 0.37}, {'connected_gene': 'PIR39927', 'score': 0.37}]
chr15 GH15I101454 101454939 101456973 1.55 [{'connected_gene': 'PCSK6', 'score': 18.37}, {'connected_gene': 'TM2D3', 'score': 12.04}, {'connected_gene': 'CHSY1', 'score': 1.69}, {'connected_gene': 'PIR54076', 'score': 0.31}, {'connected_gene': 'LOC105371028', 'score': 0.25}]
chr15 GH15I101120 101120857 101129332 1.61 [{'connected_gene': 'WASH3P', 'score': 22.31}, {'connected_gene': 'CHSY1', 'score': 20.63}, {'connected_gene': 'LOC100419174', 'score': 13.28}, {'connected_gene': 'PRKXP1', 'score': 12.34}, {'connected_gene': 'ASB7', 'score': 12.11}, {'connected_gene': 'LINS1', 'score': 11.76}, {'connected_gene': 'SNRPA1', 'score': 11.72}, {'connected_gene': 'LRRK1', 'score': 5.75}, {'connected_gene': 'ENSG00000259365', 'score': 0.44}, {'connected_gene': 'LOC105371026', 'score': 0.31}]
chr15 GH15I101248 101248201 101248600 1.05 [{'connected_gene': 'WASH3P', 'score': 5.2}, {'connected_gene': 'CHSY1', 'score': 0.77}, {'connected_gene': 'GC15M101231', 'score': 0.39}]
chr15 GH15I101015 101015296 101015465 0.77 [{'connected_gene': 'CHSY1', 'score': 12.51}, {'connected_gene': 'LRRK1', 'score': 11.64}, {'connected_gene': 'ALDH1A3', 'score': 10.79}, {'connected_gene': 'RNU6-807P', 'score': 9.67}, {'connected_gene': 'PIR34573', 'score': 0.44}, {'connected_gene': 'LOC101927751', 'score': 0.15}]
chr15 GH15I100909 100909787 100910211 0.31 [{'connected_gene': 'CHSY1', 'score': 10.13}, {'connected_gene': 'LRRK1', 'score': 0.44}, {'connected_gene': 'LOC101927751', 'score': 0.44}, {'connected_gene': 'GC15P100892', 'score': 0.37}, {'connected_gene': 'ALDH1A3', 'score': 0.29}]
chr15 GH15I101156 101156395 101157036 0.96 [{'connected_gene': 'CHSY1', 'score': 16.18}, {'connected_gene': 'SELENOS', 'score': 11.54}, {'connected_gene': 'GC15P101159', 'score': 0.77}, {'connected_gene': 'LOC105371026', 'score': 0.77}]
chr15 GH15I101182 101182028 101195799 1.5 [{'connected_gene': 'CHSY1', 'score': 25.09}, {'connected_gene': 'LINS1', 'score': 16.27}, {'connected_gene': 'LOC100419174', 'score': 15.2}, {'connected_gene': 'SNRPA1', 'score': 12.55}, {'connected_gene': 'WASH3P', 'score': 12.5}, {'connected_gene': 'TM2D3', 'score': 11.45}, {'connected_gene': 'ASB7', 'score': 10.63}, {'connected_gene': 'PIR58100', 'score': 0.77}, {'connected_gene': 'GC15M101194', 'score': 0.37}]
chr15 GH15I101249 101249807 101253346 2.22 [{'connected_gene': 'CHSY1', 'score': 550.77}, {'connected_gene': 'WASH3P', 'score': 4.51}, {'connected_gene': 'GC15M101231', 'score': 0.39}]
chr15 GH15I101279 101279456 101281450 0.59 [{'connected_gene': 'CHSY1', 'score': 11.63}, {'connected_gene': 'RNU6-807P', 'score': 11.12}, {'connected_gene': 'SELENOS', 'score': 0.77}, {'connected_gene': 'SNRPA1', 'score': 0.39}]
chr15 GH15I101324 101324104 101325476 0.74 [{'connected_gene': 'CHSY1', 'score': 5.76}, {'connected_gene': 'PCSK6-AS1', 'score': 0.44}, {'connected_gene': 'PIR41543', 'score': 0.39}, {'connected_gene': 'PCSK6', 'score': 0.08}]
chr15 GH15I101077 101077394 101080012 0.51 [{'connected_gene': 'CHSY1', 'score': 12.34}, {'connected_gene': 'ENSG00000259755', 'score': 10.27}, {'connected_gene': 'PIR53038', 'score': 0.44}, {'connected_gene': 'GC15M101045', 'score': 0.39}, {'connected_gene': 'LOC105371026', 'score': 0.19}, {'connected_gene': 'LRRK1', 'score': 0.1}]
chr15 GH15I101136 101136801 101137991 1.21 [{'connected_gene': 'CHSY1', 'score': 15.58}, {'connected_gene': 'LOC105371026', 'score': 0.39}, {'connected_gene': 'ENSG00000259365', 'score': 0.34}]
chr15 GH15I101105 101105243 101105660 0.64 [{'connected_gene': 'CHSY1', 'score': 11.8}, {'connected_gene': 'ENSG00000259365', 'score': 0.39}, {'connected_gene': 'GC15M101045', 'score': 0.39}, {'connected_gene': 'LOC105371026', 'score': 0.25}]
chr15 GH15I101108 101108216 101108365 0.65 [{'connected_gene': 'CHSY1', 'score': 11.8}, {'connected_gene': 'ENSG00000259365', 'score': 0.44}, {'connected_gene': 'GC15M101045', 'score': 0.37}, {'connected_gene': 'LOC105371026', 'score': 0.26}]
chr15 GH15I101104 101104051 101104344 0.33 [{'connected_gene': 'CHSY1', 'score': 12.28}, {'connected_gene': 'ENSG00000259365', 'score': 0.39}, {'connected_gene': 'GC15M101045', 'score': 0.39}, {'connected_gene': 'LOC105371026', 'score': 0.25}]
chr15 GH15I101242 101241801 101247800 1.41 [{'connected_gene': 'CHSY1', 'score': 5.53}, {'connected_gene': 'LOC100128108', 'score': 4.58}, {'connected_gene': 'GC15M101231', 'score': 0.44}]
chr15 GH15I101259 101258001 101258405 0.93 [{'connected_gene': 'CHSY1', 'score': 0.44}, {'connected_gene': 'GC15M101273', 'score': 0.39}, {'connected_gene': 'PIR39927', 'score': 0.39}]
chr15 GH15I101173 101173436 101174981 0.78 [{'connected_gene': 'CHSY1', 'score': 19.02}, {'connected_gene': 'ENSG00000259182', 'score': 0.44}, {'connected_gene': 'PIR58100', 'score': 0.39}]
chr15 GH15I101196 101196229 101196760 0.4 [{'connected_gene': 'CHSY1', 'score': 23.23}, {'connected_gene': 'GC15M101194', 'score': 0.44}, {'connected_gene': 'PIR58100', 'score': 0.39}]
chr15 GH15I101212 101212867 101214826 0.56 [{'connected_gene': 'CHSY1', 'score': 11.74}, {'connected_gene': 'GC15M101194', 'score': 0.44}, {'connected_gene': 'GC15M101231', 'score': 0.34}]
chr15 GH15I101218 101218274 101220869 0.38 [{'connected_gene': 'CHSY1', 'score': 11.76}, {'connected_gene': 'GC15M101194', 'score': 0.39}, {'connected_gene': 'GC15M101231', 'score': 0.37}]
chr15 GH15I101181 101181707 101181798 0.51 [{'connected_gene': 'CHSY1', 'score': 12.1}, {'connected_gene': 'PIR58100', 'score': 0.77}, {'connected_gene': 'ENSG00000259182', 'score': 0.39}]
chr15 GH15I101224 101224191 101228863 0.46 [{'connected_gene': 'CHSY1', 'score': 15.98}, {'connected_gene': 'GC15M101231', 'score': 0.39}, {'connected_gene': 'GC15M101194', 'score': 0.34}]
chr15 GH15I101175 101175002 101181352 1.09 [{'connected_gene': 'CHSY1', 'score': 23.57}, {'connected_gene': 'ENSG00000259182', 'score': 0.44}, {'connected_gene': 'PIR58100', 'score': 0.44}]
chr15 GH15I101216 101216047 101216915 0.4 [{'connected_gene': 'CHSY1', 'score': 11.74}, {'connected_gene': 'GC15M101194', 'score': 0.39}, {'connected_gene': 'GC15M101231', 'score': 0.34}]
chr15 GH15I101258 101258536 101258565 0.64 [{'connected_gene': 'CHSY1', 'score': 0.44}, {'connected_gene': 'GC15M101273', 'score': 0.39}, {'connected_gene': 'PIR39927', 'score': 0.39}]
chr15 GH15I101239 101239179 101240943 1.04 [{'connected_gene': 'CHSY1', 'score': 5.04}, {'connected_gene': 'GC15M101231', 'score': 0.77}]
chr15 GH15I100935 100935741 100937046 0.2 [{'connected_gene': 'ALDH1A3', 'score': 10.7}, {'connected_gene': 'CHSY1', 'score': 10.7}, {'connected_gene': 'LRRK1', 'score': 0.37}, {'connected_gene': 'LOC101927751', 'score': 0.37}, {'connected_gene': 'PIR34573', 'score': 0.17}]
chr15 GH15I101150 101150234 101150497 0.86 [{'connected_gene': 'LOC105371026', 'score': 550.77}, {'connected_gene': 'CHSY1', 'score': 13.96}, {'connected_gene': 'ENSG00000259365', 'score': 0.29}]
chr15 GH15I101230 101230543 101236613 0.49 [{'connected_gene': 'LOC100128108', 'score': 5.26}, {'connected_gene': 'GC15M101231', 'score': 0.77}, {'connected_gene': 'CHSY1', 'score': 0.37}, {'connected_gene': 'GC15M101194', 'score': 0.31}]
chr15 GH15I101085 101085837 101093227 1.49 [{'connected_gene': 'ENSG00000259755', 'score': 18.1}, {'connected_gene': 'LRRK1', 'score': 15.94}, {'connected_gene': 'CHSY1', 'score': 14.23}, {'connected_gene': 'GC15M101045', 'score': 0.77}, {'connected_gene': 'LOC105371026', 'score': 0.21}]
chr15 GH15I101080 101080674 101081612 0.2 [{'connected_gene': 'ENSG00000259755', 'score': 16.5}, {'connected_gene': 'CHSY1', 'score': 12.34}, {'connected_gene': 'LRRK1', 'score': 7.39}, {'connected_gene': 'PIR53038', 'score': 0.44}, {'connected_gene': 'GC15M101045', 'score': 0.39}, {'connected_gene': 'LOC105371026', 'score': 0.19}]
chr15 GH15I101035 101035625 101036200 0.64 [{'connected_gene': 'GC15M101032', 'score': 550.77}, {'connected_gene': 'CHSY1', 'score': 11.93}, {'connected_gene': 'LRRK1', 'score': 10.95}, {'connected_gene': 'GC15M101038', 'score': 0.77}]
chr15 GH15I101039 101039593 101039768 0.43 [{'connected_gene': 'GC15M101038', 'score': 550.77}, {'connected_gene': 'CHSY1', 'score': 11.39}, {'connected_gene': 'GC15M101032', 'score': 0.77}, {'connected_gene': 'LRRK1', 'score': 0.13}]
chr15 GH15I101197 101197086 101211399 1.68 [{'connected_gene': 'GC15M101194', 'score': 550.77}, {'connected_gene': 'CHSY1', 'score': 27.22}, {'connected_gene': 'SNRPA1', 'score': 17.98}, {'connected_gene': 'LOC100419174', 'score': 14.72}, {'connected_gene': 'LINS1', 'score': 14.65}, {'connected_gene': 'PRKXP1', 'score': 13.72}, {'connected_gene': 'TM2D3', 'score': 13.33}, {'connected_gene': 'WASH3P', 'score': 12.95}, {'connected_gene': 'ASB7', 'score': 11.15}, {'connected_gene': 'LRRK1', 'score': 10.03}, {'connected_gene': 'PIR58100', 'score': 0.37}]
chr15 GH15I101022 101022979 101025286 0.89 [{'connected_gene': 'GC15P101023', 'score': 550.77}, {'connected_gene': 'CHSY1', 'score': 11.32}, {'connected_gene': 'RNU6-807P', 'score': 9.56}, {'connected_gene': 'LRRK1', 'score': 6.48}, {'connected_gene': 'PCSK6', 'score': 1.88}, {'connected_gene': 'GC15M101032', 'score': 0.39}]
chr15 GH15I101023 101022596 101022745 0.2 [{'connected_gene': 'PIR34573', 'score': 550.77}, {'connected_gene': 'GC15P101023', 'score': 550.77}, {'connected_gene': 'CHSY1', 'score': 11.32}, {'connected_gene': 'RNU6-807P', 'score': 9.56}, {'connected_gene': 'LRRK1', 'score': 0.15}]
chr15 GH15I101166 101166542 101173077 1.36 [{'connected_gene': 'ENSG00000259182', 'score': 557.75}, {'connected_gene': 'CHSY1', 'score': 20.74}, {'connected_gene': 'PIR58100', 'score': 0.39}]
chr15 GH15I101263 101263976 101264825 0.64 [{'connected_gene': 'GC15M101273', 'score': 0.44}, {'connected_gene': 'PIR39927', 'score': 0.44}, {'connected_gene': 'CHSY1', 'score': 0.39}]
chr15 GH15I101266 101265799 101268745 0.63 [{'connected_gene': 'GC15M101273', 'score': 0.44}, {'connected_gene': 'PIR39927', 'score': 0.44}, {'connected_gene': 'CHSY1', 'score': 0.37}]
chr15 GH15I101222 101222076 101222225 0.69 [{'connected_gene': 'GC15M101231', 'score': 0.37}, {'connected_gene': 'GC15M101194', 'score': 0.37}, {'connected_gene': 'CHSY1', 'score': 0.31}]
chr15 GH15I101241 101241382 101241465 0.51 [{'connected_gene': 'GC15M101231', 'score': 0.77}, {'connected_gene': 'CHSY1', 'score': 0.39}]
chr15 GH15I101265 101265084 101265375 0.97 [{'connected_gene': 'GC15M101273', 'score': 0.44}, {'connected_gene': 'PIR39927', 'score': 0.44}, {'connected_gene': 'CHSY1', 'score': 0.39}]
chr15 GH15I101236 101236776 101237800 0.6 [{'connected_gene': 'GC15M101231', 'score': 550.77}, {'connected_gene': 'LOC100128108', 'score': 5.95}, {'connected_gene': 'CHSY1', 'score': 0.39}, {'connected_gene': 'GC15M101194', 'score': 0.29}]

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