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
ENST00000242208 [[41724711, 41730140], [41739584, 41740115], [41742602, 41742706]] [[41729247, 41730140], [41739584, 41739972]]
ENST00000464515 [[41729113, 41730140], [41730786, 41732162]] None
ENST00000442711 [[41729131, 41730140], [41739584, 41740207]] [[41729247, 41730140], [41739584, 41739972]]
NM_002192 [[41724711, 41730140], [41739584, 41740115], [41742602, 41742706]] [[41729247, 41730140], [41739584, 41739972]]
Promoter
Chrom Start End Description
chr7 41729382 41729394 CAGE_peak_11_at_INHBA_5end
chr7 41729687 41729699 CAGE_peak_15_at_INHBA_5end
chr7 41739969 41739985 CAGE_peak_7_at_INHBA_5end
chr7 41740181 41740234 CAGE_peak_3_at_INHBA_5end
chr7 41740442 41740463 CAGE_peak_10_at_INHBA_5end
chr7 41740488 41740518 CAGE_peak_4_at_INHBA_5end
chr7 41742660 41742695 CAGE_peak_1_at_INHBA_5end
chr7 41742697 41742714 CAGE_peak_2_at_INHBA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I040763 40763098 40765088 0.58 [{'connected_gene': 'INHBA', 'score': 17.71}, {'connected_gene': 'INHBA-AS1', 'score': 9.17}, {'connected_gene': 'GC07P040768', 'score': 0.77}, {'connected_gene': 'LOC105375243', 'score': 0.22}, {'connected_gene': 'SUGCT', 'score': 0.03}]
chr7 GH07I041026 41026890 41030344 0.98 [{'connected_gene': 'INHBA', 'score': 10.18}, {'connected_gene': 'INHBA-AS1', 'score': 10.18}, {'connected_gene': 'LINC01450', 'score': 0.25}, {'connected_gene': 'LINC01449', 'score': 0.19}]
chr7 GH07I041730 41730304 41730467 0.22 [{'connected_gene': 'INHBA', 'score': 12.99}, {'connected_gene': 'INHBA-AS1', 'score': 11.68}, {'connected_gene': 'GC07P041710', 'score': 0.37}, {'connected_gene': 'GC07P041910', 'score': 0.09}]
chr7 GH07I041732 41732001 41733354 1.2 [{'connected_gene': 'INHBA', 'score': 11.8}, {'connected_gene': 'INHBA-AS1', 'score': 11.68}, {'connected_gene': 'GC07P041710', 'score': 0.34}, {'connected_gene': 'GC07P041910', 'score': 0.1}]
chr7 GH07I041694 41694761 41707219 2.56 [{'connected_gene': 'INHBA', 'score': 552.97}, {'connected_gene': 'GC07P041705', 'score': 0.77}, {'connected_gene': 'GC07P041694', 'score': 0.44}, {'connected_gene': 'INHBA-AS1', 'score': 0.44}]
chr7 GH07I041760 41760428 41760579 0.41 [{'connected_gene': 'INHBA', 'score': 1.72}, {'connected_gene': 'GC07P041710', 'score': 0.23}, {'connected_gene': 'INHBA-AS1', 'score': 0.2}, {'connected_gene': 'GC07P041910', 'score': 0.1}]
chr7 GH07I041777 41777713 41780849 0.97 [{'connected_gene': 'INHBA', 'score': 1.34}, {'connected_gene': 'GC07P041710', 'score': 0.2}, {'connected_gene': 'INHBA-AS1', 'score': 0.17}, {'connected_gene': 'GC07P041910', 'score': 0.12}]
chr7 GH07I041924 41924799 41925137 0.58 [{'connected_gene': 'INHBA', 'score': 1.62}, {'connected_gene': 'LOC105375248', 'score': 0.44}, {'connected_gene': 'GC07P041910', 'score': 0.39}]
chr7 GH07I041910 41910756 41919269 1.36 [{'connected_gene': 'INHBA', 'score': 1.77}, {'connected_gene': 'GC07P041910', 'score': 0.77}, {'connected_gene': 'LOC105375248', 'score': 0.37}]
chr7 GH07I041678 41678949 41680958 0.2 [{'connected_gene': 'INHBA', 'score': 11.26}, {'connected_gene': 'GC07M041685', 'score': 0.44}, {'connected_gene': 'LOC105375247', 'score': 0.39}]
chr7 GH07I040824 40823126 40823371 0.2 [{'connected_gene': 'INHBA', 'score': 4.68}, {'connected_gene': 'ENSG00000227658', 'score': 0.25}, {'connected_gene': 'LOC105375242', 'score': 0.18}, {'connected_gene': 'SUGCT', 'score': 0.03}]
chr7 GH07I040807 40807275 40811379 0.78 [{'connected_gene': 'INHBA', 'score': 20.16}, {'connected_gene': 'ENSG00000227658', 'score': 0.29}, {'connected_gene': 'LOC105375242', 'score': 0.16}, {'connected_gene': 'SUGCT', 'score': 0.03}]
chr7 GH07I040806 40806752 40807011 0.4 [{'connected_gene': 'INHBA', 'score': 6.69}, {'connected_gene': 'ENSG00000227658', 'score': 0.29}, {'connected_gene': 'LOC105375242', 'score': 0.15}, {'connected_gene': 'SUGCT', 'score': 0.03}]
chr7 GH07I040804 40804607 40806324 0.4 [{'connected_gene': 'INHBA', 'score': 20.19}, {'connected_gene': 'ENSG00000227658', 'score': 0.31}, {'connected_gene': 'LOC105375242', 'score': 0.15}, {'connected_gene': 'SUGCT', 'score': 0.03}]
chr7 GH07I040814 40814995 40816813 0.4 [{'connected_gene': 'INHBA', 'score': 20.25}, {'connected_gene': 'ENSG00000227658', 'score': 0.26}, {'connected_gene': 'LOC105375242', 'score': 0.17}, {'connected_gene': 'SUGCT', 'score': 0.03}]
chr7 GH07I040842 40842262 40844957 0.51 [{'connected_gene': 'INHBA', 'score': 5.38}, {'connected_gene': 'LOC105375242', 'score': 0.22}, {'connected_gene': 'ENSG00000227658', 'score': 0.2}, {'connected_gene': 'SUGCT', 'score': 0.03}]
chr7 GH07I040793 40793302 40794745 0.38 [{'connected_gene': 'INHBA', 'score': 20.56}, {'connected_gene': 'ENSG00000227658', 'score': 0.37}, {'connected_gene': 'LOC105375242', 'score': 0.14}, {'connected_gene': 'SUGCT', 'score': 0.03}]
chr7 GH07I040801 40801147 40802415 0.2 [{'connected_gene': 'INHBA', 'score': 20.5}, {'connected_gene': 'ENSG00000227658', 'score': 0.31}, {'connected_gene': 'LOC105375242', 'score': 0.15}, {'connected_gene': 'SUGCT', 'score': 0.03}]
chr7 GH07I040781 40781992 40783996 0.2 [{'connected_gene': 'INHBA', 'score': 10.31}, {'connected_gene': 'ENSG00000227658', 'score': 0.44}, {'connected_gene': 'GC07P040768', 'score': 0.39}, {'connected_gene': 'LOC105375242', 'score': 0.13}, {'connected_gene': 'SUGCT', 'score': 0.03}]
chr7 GH07I040823 40823724 40828429 0.78 [{'connected_gene': 'INHBA', 'score': 21.14}, {'connected_gene': 'ENSG00000227658', 'score': 0.23}, {'connected_gene': 'LOC105375242', 'score': 0.18}, {'connected_gene': 'SUGCT', 'score': 0.03}]
chr7 GH07I040859 40859197 40860744 0.2 [{'connected_gene': 'INHBA', 'score': 10.26}, {'connected_gene': 'LOC105375242', 'score': 0.26}, {'connected_gene': 'ENSG00000227658', 'score': 0.18}, {'connected_gene': 'SUGCT', 'score': 0.03}]
chr7 GH07I040839 40839027 40841081 0.46 [{'connected_gene': 'INHBA', 'score': 10.53}, {'connected_gene': 'LOC105375242', 'score': 0.21}, {'connected_gene': 'ENSG00000227658', 'score': 0.21}, {'connected_gene': 'SUGCT', 'score': 0.03}]
chr7 GH07I041883 41883840 41888008 1.13 [{'connected_gene': 'INHBA', 'score': 1.31}, {'connected_gene': 'GC07P041910', 'score': 0.34}, {'connected_gene': 'GC07P041710', 'score': 0.1}]
chr7 GH07I041813 41813163 41813652 0.28 [{'connected_gene': 'INHBA', 'score': 1.69}, {'connected_gene': 'GC07P041910', 'score': 0.15}, {'connected_gene': 'GC07P041710', 'score': 0.15}]
chr7 GH07I041874 41874211 41874564 0.52 [{'connected_gene': 'INHBA', 'score': 1.49}, {'connected_gene': 'GC07P041910', 'score': 0.28}, {'connected_gene': 'GC07P041710', 'score': 0.1}]
chr7 GH07I041832 41832940 41833297 0.33 [{'connected_gene': 'INHBA', 'score': 1.29}, {'connected_gene': 'GC07P041910', 'score': 0.18}, {'connected_gene': 'GC07P041710', 'score': 0.13}]
chr7 GH07I041815 41815675 41816018 0.36 [{'connected_gene': 'INHBA', 'score': 1.51}, {'connected_gene': 'GC07P041910', 'score': 0.16}, {'connected_gene': 'GC07P041710', 'score': 0.14}]
chr7 GH07I041808 41808222 41811038 1.01 [{'connected_gene': 'INHBA', 'score': 1.53}, {'connected_gene': 'GC07P041710', 'score': 0.15}, {'connected_gene': 'GC07P041910', 'score': 0.15}]
chr7 GH07I041847 41847277 41847420 0.28 [{'connected_gene': 'INHBA', 'score': 1.57}, {'connected_gene': 'GC07P041910', 'score': 0.21}, {'connected_gene': 'GC07P041710', 'score': 0.12}]
chr7 GH07I041878 41878640 41883460 1.6 [{'connected_gene': 'INHBA', 'score': 1.93}, {'connected_gene': 'GC07P041910', 'score': 0.31}, {'connected_gene': 'GC07P041710', 'score': 0.09}]
chr7 GH07I041873 41873351 41873529 0.49 [{'connected_gene': 'INHBA', 'score': 1.37}, {'connected_gene': 'GC07P041910', 'score': 0.28}, {'connected_gene': 'GC07P041710', 'score': 0.1}]
chr7 GH07I041869 41869130 41870999 1.37 [{'connected_gene': 'INHBA', 'score': 1.47}, {'connected_gene': 'GC07P041910', 'score': 0.26}, {'connected_gene': 'GC07P041710', 'score': 0.1}]
chr7 GH07I041577 41577788 41582005 0.96 [{'connected_gene': 'INHBA-AS1', 'score': 10.72}, {'connected_gene': 'INHBA', 'score': 10.71}, {'connected_gene': 'LOC105375247', 'score': 0.17}, {'connected_gene': 'GC07P041337', 'score': 0.07}]
chr7 GH07I041652 41652383 41652532 0.2 [{'connected_gene': 'INHBA-AS1', 'score': 11.99}, {'connected_gene': 'INHBA', 'score': 11.96}, {'connected_gene': 'LOC105375247', 'score': 0.39}, {'connected_gene': 'GC07P041337', 'score': 0.06}]
chr7 GH07I041657 41656503 41656652 0.2 [{'connected_gene': 'INHBA-AS1', 'score': 12.01}, {'connected_gene': 'INHBA', 'score': 11.98}, {'connected_gene': 'LOC105375247', 'score': 0.39}, {'connected_gene': 'GC07P041337', 'score': 0.06}]
chr7 GH07I041501 41501123 41501272 0.2 [{'connected_gene': 'INHBA-AS1', 'score': 10.41}, {'connected_gene': 'INHBA', 'score': 10.41}, {'connected_gene': 'LOC105375247', 'score': 0.1}, {'connected_gene': 'GC07P041337', 'score': 0.1}]
chr7 GH07I041402 41402704 41404007 0.52 [{'connected_gene': 'INHBA-AS1', 'score': 10.74}, {'connected_gene': 'INHBA', 'score': 10.74}, {'connected_gene': 'GC07P041337', 'score': 0.2}, {'connected_gene': 'LOC105375247', 'score': 0.07}]
chr7 GH07I041567 41567483 41567801 0.78 [{'connected_gene': 'INHBA-AS1', 'score': 11.2}, {'connected_gene': 'INHBA', 'score': 11.19}, {'connected_gene': 'LOC105375247', 'score': 0.15}, {'connected_gene': 'GC07P041337', 'score': 0.07}]
chr7 GH07I041508 41508863 41509012 0.65 [{'connected_gene': 'INHBA-AS1', 'score': 10.41}, {'connected_gene': 'INHBA', 'score': 10.41}, {'connected_gene': 'LOC105375247', 'score': 0.1}, {'connected_gene': 'GC07P041337', 'score': 0.09}]
chr7 GH07I041572 41572501 41576941 1.11 [{'connected_gene': 'INHBA-AS1', 'score': 11.2}, {'connected_gene': 'INHBA', 'score': 11.19}, {'connected_gene': 'LOC105375247', 'score': 0.16}, {'connected_gene': 'GC07P041337', 'score': 0.07}]
chr7 GH07I041629 41629068 41631341 0.66 [{'connected_gene': 'INHBA-AS1', 'score': 10.77}, {'connected_gene': 'INHBA', 'score': 10.75}, {'connected_gene': 'LOC105375247', 'score': 0.28}, {'connected_gene': 'GC07P041337', 'score': 0.06}]
chr7 GH07I041459 41459001 41460400 0.62 [{'connected_gene': 'INHBA-AS1', 'score': 10.38}, {'connected_gene': 'INHBA', 'score': 10.38}, {'connected_gene': 'GC07P041337', 'score': 0.13}, {'connected_gene': 'LOC105375247', 'score': 0.08}]
chr7 GH07I041628 41628072 41628375 0.4 [{'connected_gene': 'INHBA-AS1', 'score': 10.77}, {'connected_gene': 'INHBA', 'score': 10.75}, {'connected_gene': 'LOC105375247', 'score': 0.28}, {'connected_gene': 'GC07P041337', 'score': 0.06}]
chr7 GH07I041656 41655358 41655891 0.2 [{'connected_gene': 'INHBA-AS1', 'score': 12.01}, {'connected_gene': 'INHBA', 'score': 11.96}, {'connected_gene': 'LOC105375247', 'score': 0.39}, {'connected_gene': 'GC07P041337', 'score': 0.06}]
chr7 GH07I041655 41655983 41656134 0.2 [{'connected_gene': 'INHBA-AS1', 'score': 12.01}, {'connected_gene': 'INHBA', 'score': 11.98}, {'connected_gene': 'LOC105375247', 'score': 0.39}, {'connected_gene': 'GC07P041337', 'score': 0.06}]
chr7 GH07I041385 41385538 41388013 0.31 [{'connected_gene': 'INHBA-AS1', 'score': 9.97}, {'connected_gene': 'INHBA', 'score': 9.97}, {'connected_gene': 'GC07P041337', 'score': 0.25}, {'connected_gene': 'LOC105375247', 'score': 0.06}]
chr7 GH07I041399 41399011 41399566 0.52 [{'connected_gene': 'INHBA-AS1', 'score': 10.74}, {'connected_gene': 'INHBA', 'score': 10.74}, {'connected_gene': 'GC07P041337', 'score': 0.21}, {'connected_gene': 'LOC105375247', 'score': 0.06}]
chr7 GH07I041292 41292603 41292732 0.2 [{'connected_gene': 'INHBA-AS1', 'score': 10.02}, {'connected_gene': 'INHBA', 'score': 10.02}, {'connected_gene': 'LOC105375246', 'score': 0.28}, {'connected_gene': 'GC07P041217', 'score': 0.18}]
chr7 GH07I041222 41222167 41225847 0.68 [{'connected_gene': 'INHBA-AS1', 'score': 9.98}, {'connected_gene': 'INHBA', 'score': 9.98}, {'connected_gene': 'GC07P041217', 'score': 0.44}, {'connected_gene': 'LOC105375246', 'score': 0.14}]
chr7 GH07I041708 41708743 41710423 1.5 [{'connected_gene': 'GC07P041710', 'score': 550.77}, {'connected_gene': 'INHBA', 'score': 2.28}, {'connected_gene': 'INHBA-AS1', 'score': 0.37}]
chr7 GH07I041685 41685863 41686012 0.58 [{'connected_gene': 'GC07M041685', 'score': 550.77}, {'connected_gene': 'INHBA', 'score': 0.37}, {'connected_gene': 'LOC105375247', 'score': 0.37}]
chr7 GH07I041693 41693403 41693552 0.77 [{'connected_gene': 'GC07P041694', 'score': 550.77}, {'connected_gene': 'INHBA-AS1', 'score': 550.77}, {'connected_gene': 'GC07M041689', 'score': 0.77}, {'connected_gene': 'PIR58959', 'score': 0.77}, {'connected_gene': 'INHBA', 'score': 0.39}]
chr7 GH07I041681 41681669 41683679 0.2 [{'connected_gene': 'GC07M041685', 'score': 0.77}, {'connected_gene': 'LOC105375247', 'score': 0.37}, {'connected_gene': 'INHBA', 'score': 0.34}]

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