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
ENST00000306376 [[185764096, 185766649], [185769818, 185769920], [185774863, 185775033], [185775211, 185775280], [185782205, 185782265], [185783601, 185783861], [185797605, 185797893], [185798834, 185798964], [185823093, 185823144], [185823237, 185823285], [185823413, 185823501], [185823612, 185823731], [185826728, 185826901]] [[185766427, 185766649], [185769818, 185769920], [185774863, 185775033], [185775211, 185775280], [185782205, 185782265], [185783601, 185783861], [185797605, 185797893], [185798834, 185798964], [185823093, 185823144], [185823237, 185823285], [185823413, 185823501], [185823612, 185823657]]
ENST00000434744 [[185766040, 185766649], [185769818, 185769920], [185774863, 185775033], [185775211, 185775280], [185782205, 185782265], [185783601, 185783861], [185797605, 185797893], [185798834, 185798964], [185823093, 185823144], [185823237, 185823285], [185823413, 185823501], [185823612, 185823731], [185826245, 185826464]] [[185766427, 185766649], [185769818, 185769920], [185774863, 185775033], [185775211, 185775280], [185782205, 185782265], [185783601, 185783861], [185797605, 185797893], [185798834, 185798964], [185823093, 185823144], [185823237, 185823285], [185823413, 185823501], [185823612, 185823657]]
ENST00000537818 [[185766263, 185766649], [185769818, 185769920], [185774863, 185775033], [185775211, 185775280], [185782205, 185782265], [185783601, 185783861], [185797605, 185797893], [185798834, 185798964], [185823093, 185823144], [185823237, 185823285], [185823413, 185823501], [185823612, 185823731], [185826245, 185826333]] [[185766427, 185766649], [185769818, 185769920], [185774863, 185775033], [185775211, 185775280], [185782205, 185782265], [185783601, 185783861], [185797605, 185797893], [185798834, 185798964], [185823093, 185823144], [185823237, 185823285], [185823413, 185823501], [185823612, 185823731], [185826245, 185826297]]
ENST00000480706 [[185766370, 185766649], [185769818, 185769920], [185774863, 185775033], [185775211, 185775280], [185782205, 185782349]] None
ENST00000433149 [[185766603, 185766649], [185769818, 185769920], [185782205, 185782265], [185783601, 185783759]] [[185769870, 185769920], [185782205, 185782265], [185783601, 185783759]]
ENST00000489830 [[185782001, 185782265], [185783601, 185783861], [185797605, 185797695]] None
ENST00000484223 [[185782231, 185782265], [185783601, 185783861], [185795781, 185796003], [185796820, 185796894]] None
ENST00000472868 [[185783793, 185783861], [185823093, 185823144], [185823612, 185823731]] None
ENST00000440773 [[185797805, 185797893], [185798834, 185798964], [185823093, 185823144], [185823237, 185823285], [185823413, 185823501], [185823612, 185823731], [185828057, 185828107]] [[185797805, 185797893], [185798834, 185798964], [185823093, 185823144], [185823237, 185823285], [185823413, 185823501], [185823612, 185823657]]
ENST00000421809 [[185797835, 185797893], [185798834, 185798964], [185823093, 185823144], [185823237, 185823285], [185823413, 185823501], [185823612, 185823731], [185826728, 185826788]] [[185797835, 185797893], [185798834, 185798964], [185823093, 185823144], [185823237, 185823285], [185823413, 185823501], [185823612, 185823657]]
ENST00000413301 [[185797858, 185797893], [185798834, 185798964], [185823093, 185823144], [185823237, 185823285], [185823413, 185823501], [185823612, 185823731], [185826616, 185826718]] [[185797858, 185797893], [185798834, 185798964], [185823093, 185823144], [185823237, 185823285], [185823413, 185823501], [185823612, 185823657]]
ENST00000422039 [[185798912, 185798964], [185801957, 185802069], [185823093, 185823144], [185823237, 185823285], [185823413, 185823501], [185823612, 185823731], [185826245, 185826339]] [[185798912, 185798964], [185801957, 185802069], [185823093, 185823144], [185823237, 185823285], [185823413, 185823501], [185823612, 185823657]]
ENST00000476890 [[185812908, 185813102], [185823093, 185823144], [185823237, 185823285], [185823413, 185823501], [185823612, 185823731], [185826728, 185826870]] None
ENST00000475484 [[185822714, 185823144], [185823237, 185823279]] None
ENST00000495808 [[185823198, 185823285], [185823413, 185823513]] None
NM_004454 [[185764105, 185766649], [185769818, 185769920], [185774863, 185775033], [185775211, 185775280], [185782205, 185782265], [185783601, 185783861], [185797605, 185797893], [185798834, 185798964], [185823093, 185823144], [185823237, 185823285], [185823413, 185823501], [185823612, 185823731], [185826728, 185826901]] [[185766427, 185766649], [185769818, 185769920], [185774863, 185775033], [185775211, 185775280], [185782205, 185782265], [185783601, 185783861], [185797605, 185797893], [185798834, 185798964], [185823093, 185823144], [185823237, 185823285], [185823413, 185823501], [185823612, 185823657]]
Promoter
Chrom Start End Description
chr3 185784049 185784050 CAGE_peak_7_at_ETV5_5end
chr3 185797682 185797689 CAGE_peak_16_at_ETV5_5end
chr3 185797712 185797746 CAGE_peak_6_at_ETV5_5end
chr3 185823495 185823511 CAGE_peak_12_at_ETV5_5end
chr3 185823573 185823578 CAGE_peak_26_at_ETV5_5end
chr3 185823640 185823655 CAGE_peak_8_at_ETV5_5end
chr3 185826286 185826318 CAGE_peak_5_at_ETV5_5end
chr3 185826764 185826803 CAGE_peak_2_at_ETV5_5end
chr3 185826814 185826825 CAGE_peak_3_at_ETV5_5end
chr3 185826855 185826911 CAGE_peak_1_at_ETV5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I185977 185977532 185977681 0.78 [{'connected_gene': 'TRA2B', 'score': 11.29}, {'connected_gene': 'ETV5', 'score': 10.61}, {'connected_gene': 'ETV5-AS1', 'score': 9.92}, {'connected_gene': 'GC03M185982', 'score': 0.77}, {'connected_gene': 'NMRAL2P', 'score': 0.37}]
chr3 GH03I186208 186208917 186211685 1.02 [{'connected_gene': 'SNORA4', 'score': 19.3}, {'connected_gene': 'ENSG00000200418', 'score': 17.99}, {'connected_gene': 'TRA2B', 'score': 17.86}, {'connected_gene': 'TBCCD1', 'score': 16.6}, {'connected_gene': 'SNORA81', 'score': 15.32}, {'connected_gene': 'ETV5', 'score': 11.13}, {'connected_gene': 'ETV5-AS1', 'score': 10.23}, {'connected_gene': 'RFC4', 'score': 10.08}, {'connected_gene': 'SNORA63', 'score': 9.68}, {'connected_gene': 'GC03P186167', 'score': 0.26}, {'connected_gene': 'DGKG', 'score': 0.1}]
chr3 GH03I185958 185958501 185961800 1.32 [{'connected_gene': 'NMRAL2P', 'score': 559.5}, {'connected_gene': 'TRA2B', 'score': 12.29}, {'connected_gene': 'ETV5', 'score': 10.18}, {'connected_gene': 'ETV5-AS1', 'score': 10.11}, {'connected_gene': 'AHSG', 'score': 9.9}, {'connected_gene': 'GC03M185982', 'score': 0.34}]
chr3 GH03I186230 186230535 186230808 0.37 [{'connected_gene': 'ETV5', 'score': 10.87}, {'connected_gene': 'TRA2B', 'score': 10.58}, {'connected_gene': 'DGKG', 'score': 10.5}, {'connected_gene': 'GC03P186167', 'score': 0.21}]
chr3 GH03I186239 186239392 186239521 0.57 [{'connected_gene': 'ETV5', 'score': 11.38}, {'connected_gene': 'TRA2B', 'score': 10.58}, {'connected_gene': 'ETV5-AS1', 'score': 10.13}, {'connected_gene': 'AHSG', 'score': 10.06}, {'connected_gene': 'GC03P186167', 'score': 0.19}, {'connected_gene': 'DGKG', 'score': 0.13}]
chr3 GH03I186241 186241601 186243018 1.16 [{'connected_gene': 'ETV5', 'score': 11.37}, {'connected_gene': 'TRA2B', 'score': 10.31}, {'connected_gene': 'ETV5-AS1', 'score': 10.09}, {'connected_gene': 'AHSG', 'score': 9.85}, {'connected_gene': 'GC03P186167', 'score': 0.19}, {'connected_gene': 'DGKG', 'score': 0.13}]
chr3 GH03I186105 186105283 186110888 2.45 [{'connected_gene': 'ETV5', 'score': 550.77}, {'connected_gene': 'TBCCD1', 'score': 45.35}, {'connected_gene': 'TRA2B', 'score': 25.49}, {'connected_gene': 'ENSG00000200418', 'score': 20.99}, {'connected_gene': 'RFC4', 'score': 10.9}, {'connected_gene': 'SNORA81', 'score': 10.8}, {'connected_gene': 'SNORA4', 'score': 9.92}, {'connected_gene': 'ETV5-AS1', 'score': 0.31}, {'connected_gene': 'DGKG', 'score': 0.07}]
chr3 GH03I186487 186487192 186487341 0.2 [{'connected_gene': 'ETV5', 'score': 9.95}, {'connected_gene': 'LINC02052', 'score': 0.44}, {'connected_gene': 'LINC02051', 'score': 0.39}]
chr3 GH03I185953 185953273 185954118 0.74 [{'connected_gene': 'ETV5', 'score': 10.18}, {'connected_gene': 'AHSG', 'score': 9.9}, {'connected_gene': 'NMRAL2P', 'score': 0.44}, {'connected_gene': 'TRA2B', 'score': 0.37}]
chr3 GH03I186367 186367768 186369347 0.2 [{'connected_gene': 'ETV5', 'score': 9.18}, {'connected_gene': 'DGKG', 'score': 0.44}, {'connected_gene': 'LINC02020', 'score': 0.19}]
chr3 GH03I186218 186218752 186219713 0.31 [{'connected_gene': 'ETV5', 'score': 10.75}, {'connected_gene': 'ETV5-AS1', 'score': 10.46}, {'connected_gene': 'TRA2B', 'score': 9.87}, {'connected_gene': 'GC03P186167', 'score': 0.23}, {'connected_gene': 'DGKG', 'score': 0.11}]
chr3 GH03I186216 186216829 186218581 0.79 [{'connected_gene': 'ETV5', 'score': 10.49}, {'connected_gene': 'ETV5-AS1', 'score': 10.47}, {'connected_gene': 'TRA2B', 'score': 9.77}, {'connected_gene': 'GC03P186167', 'score': 0.23}, {'connected_gene': 'DGKG', 'score': 0.11}]
chr3 GH03I186187 186187014 186188553 0.43 [{'connected_gene': 'ETV5', 'score': 11.3}, {'connected_gene': 'ETV5-AS1', 'score': 10.34}, {'connected_gene': 'DNAJB11', 'score': 4.93}, {'connected_gene': 'GC03P186167', 'score': 0.34}, {'connected_gene': 'DGKG', 'score': 0.09}]
chr3 GH03I186342 186342157 186343692 0.86 [{'connected_gene': 'ETV5', 'score': 9.99}, {'connected_gene': 'ETV5-AS1', 'score': 9.27}, {'connected_gene': 'KNG1', 'score': 9.25}, {'connected_gene': 'DGKG', 'score': 0.37}, {'connected_gene': 'GC03P186167', 'score': 0.1}]
chr3 GH03I186381 186381698 186382493 0.59 [{'connected_gene': 'ETV5', 'score': 9.38}, {'connected_gene': 'ETV5-AS1', 'score': 9.38}, {'connected_gene': 'ENSG00000231982', 'score': 5.41}, {'connected_gene': 'DGKG', 'score': 0.37}, {'connected_gene': 'LINC02020', 'score': 0.22}]
chr3 GH03I186200 186200191 186201715 0.2 [{'connected_gene': 'ETV5', 'score': 11.98}, {'connected_gene': 'ETV5-AS1', 'score': 10.22}, {'connected_gene': 'GC03P186167', 'score': 0.29}, {'connected_gene': 'DGKG', 'score': 0.1}]
chr3 GH03I186162 186162352 186162501 0.73 [{'connected_gene': 'ETV5', 'score': 11.31}, {'connected_gene': 'ETV5-AS1', 'score': 10.35}, {'connected_gene': 'GC03P186167', 'score': 0.44}, {'connected_gene': 'GC03P186150', 'score': 0.39}, {'connected_gene': 'DGKG', 'score': 0.08}]
chr3 GH03I186152 186152292 186154125 0.86 [{'connected_gene': 'ETV5', 'score': 12.28}, {'connected_gene': 'ETV5-AS1', 'score': 9.85}, {'connected_gene': 'GC03P186150', 'score': 0.77}, {'connected_gene': 'GC03P186167', 'score': 0.39}, {'connected_gene': 'DGKG', 'score': 0.08}]
chr3 GH03I186194 186194172 186194381 0.38 [{'connected_gene': 'ETV5', 'score': 11.6}, {'connected_gene': 'ETV5-AS1', 'score': 10.53}, {'connected_gene': 'GC03P186167', 'score': 0.31}, {'connected_gene': 'DGKG', 'score': 0.1}]
chr3 GH03I186347 186347890 186348811 0.31 [{'connected_gene': 'ETV5', 'score': 9.58}, {'connected_gene': 'ETV5-AS1', 'score': 9.26}, {'connected_gene': 'DGKG', 'score': 0.39}, {'connected_gene': 'GC03P186167', 'score': 0.09}]
chr3 GH03I186280 186280632 186281817 0.31 [{'connected_gene': 'ETV5', 'score': 10.16}, {'connected_gene': 'ETV5-AS1', 'score': 9.23}, {'connected_gene': 'DGKG', 'score': 0.18}, {'connected_gene': 'GC03P186167', 'score': 0.14}]
chr3 GH03I186220 186220121 186222510 0.67 [{'connected_gene': 'ETV5', 'score': 10.95}, {'connected_gene': 'ETV5-AS1', 'score': 10.29}, {'connected_gene': 'GC03P186167', 'score': 0.23}, {'connected_gene': 'DGKG', 'score': 0.11}]
chr3 GH03I186083 186083038 186085484 0.46 [{'connected_gene': 'ETV5', 'score': 11.06}, {'connected_gene': 'ETV5-AS1', 'score': 0.44}]
chr3 GH03I186060 186060272 186060421 0.49 [{'connected_gene': 'ETV5', 'score': 11.35}, {'connected_gene': 'ENSG00000277118', 'score': 0.37}, {'connected_gene': 'GC03P186008', 'score': 0.23}]
chr3 GH03I186070 186070132 186071549 0.84 [{'connected_gene': 'ETV5', 'score': 10.8}, {'connected_gene': 'ENSG00000277118', 'score': 0.44}, {'connected_gene': 'GC03P186008', 'score': 0.21}]
chr3 GH03I186057 186057033 186058644 0.87 [{'connected_gene': 'ETV5', 'score': 11.33}, {'connected_gene': 'ENSG00000277118', 'score': 0.37}, {'connected_gene': 'GC03P186008', 'score': 0.25}]
chr3 GH03I186338 186338719 186341719 0.52 [{'connected_gene': 'AHSG', 'score': 10.22}, {'connected_gene': 'ETV5', 'score': 10.0}, {'connected_gene': 'KNG1', 'score': 9.34}, {'connected_gene': 'DGKG', 'score': 0.34}, {'connected_gene': 'GC03P186167', 'score': 0.09}]
chr3 GH03I186094 186094731 186100211 1.37 [{'connected_gene': 'AHSG', 'score': 9.53}, {'connected_gene': 'ETV5', 'score': 0.39}, {'connected_gene': 'ETV5-AS1', 'score': 0.37}]
chr3 GH03I186024 186024109 186024925 0.4 [{'connected_gene': 'ETV5-AS1', 'score': 10.68}, {'connected_gene': 'ETV5', 'score': 10.62}, {'connected_gene': 'KNG1', 'score': 9.95}, {'connected_gene': 'AHSG', 'score': 9.49}, {'connected_gene': 'HRG', 'score': 8.95}, {'connected_gene': 'DNAJB11', 'score': 4.8}, {'connected_gene': 'GC03P186008', 'score': 0.37}, {'connected_gene': 'ENSG00000277118', 'score': 0.23}]
chr3 GH03I186025 186025252 186025401 0.31 [{'connected_gene': 'ETV5-AS1', 'score': 10.68}, {'connected_gene': 'ETV5', 'score': 10.63}, {'connected_gene': 'KNG1', 'score': 9.95}, {'connected_gene': 'AHSG', 'score': 9.49}, {'connected_gene': 'HRG', 'score': 8.95}, {'connected_gene': 'GC03P186008', 'score': 0.37}, {'connected_gene': 'ENSG00000277118', 'score': 0.23}]
chr3 GH03I186021 186021401 186022462 0.54 [{'connected_gene': 'ETV5-AS1', 'score': 10.67}, {'connected_gene': 'ETV5', 'score': 10.62}, {'connected_gene': 'KNG1', 'score': 9.95}, {'connected_gene': 'AHSG', 'score': 9.49}, {'connected_gene': 'HRG', 'score': 8.95}, {'connected_gene': 'GC03P186008', 'score': 0.39}, {'connected_gene': 'ENSG00000277118', 'score': 0.23}]
chr3 GH03I186044 186044238 186045811 0.96 [{'connected_gene': 'ETV5-AS1', 'score': 11.25}, {'connected_gene': 'ETV5', 'score': 11.16}, {'connected_gene': 'HRG', 'score': 9.09}, {'connected_gene': 'ENSG00000277118', 'score': 0.29}, {'connected_gene': 'GC03P186008', 'score': 0.28}]
chr3 GH03I185994 185994992 185995832 0.31 [{'connected_gene': 'ETV5-AS1', 'score': 10.59}, {'connected_gene': 'ETV5', 'score': 10.55}, {'connected_gene': 'GC03P186008', 'score': 0.39}, {'connected_gene': 'GC03M185982', 'score': 0.39}]
chr3 GH03I186053 186053552 186055729 0.63 [{'connected_gene': 'ETV5-AS1', 'score': 11.65}, {'connected_gene': 'ETV5', 'score': 11.54}, {'connected_gene': 'ENSG00000277118', 'score': 0.34}, {'connected_gene': 'GC03P186008', 'score': 0.25}]
chr3 GH03I186079 186079608 186081291 0.58 [{'connected_gene': 'ETV5-AS1', 'score': 550.77}, {'connected_gene': 'ETV5', 'score': 0.31}]
chr3 GH03I186102 186102772 186102921 0.2 [{'connected_gene': 'ETV5-AS1', 'score': 11.35}, {'connected_gene': 'ETV5', 'score': 0.44}]
chr3 GH03I186103 186103001 186104746 1.27 [{'connected_gene': 'ETV5-AS1', 'score': 11.35}, {'connected_gene': 'ETV5', 'score': 0.44}]
chr3 GH03I186118 186118680 186119299 0.31 [{'connected_gene': 'ETV5-AS1', 'score': 11.09}, {'connected_gene': 'LOC105374257', 'score': 0.77}, {'connected_gene': 'ETV5', 'score': 0.44}, {'connected_gene': 'DGKG', 'score': 0.07}]
chr3 GH03I185983 185983801 185984000 0.77 [{'connected_gene': 'GC03M185982', 'score': 550.77}, {'connected_gene': 'TRA2B', 'score': 10.99}, {'connected_gene': 'AHSG', 'score': 10.48}, {'connected_gene': 'ETV5-AS1', 'score': 10.17}, {'connected_gene': 'ETV5', 'score': 10.15}, {'connected_gene': 'HRG', 'score': 8.77}, {'connected_gene': 'GC03P186008', 'score': 0.31}]

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