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
ENST00000491710 [[12008994, 12009108], [12015758, 12015901], [12089416, 12089470], [12120122, 12120390]] [[12015861, 12015901], [12089416, 12089470], [12120122, 12120390]]
ENST00000487103 [[12012232, 12012287], [12015758, 12015901], [12089416, 12089470], [12120122, 12120455]] [[12015861, 12015901], [12089416, 12089470], [12120122, 12120455]]
ENST00000379388 [[12012570, 12012799], [12015758, 12015901], [12089416, 12089470], [12120122, 12126103], [12129991, 12130125], [12130999, 12131175], [12136023, 12136125], [12161671, 12162162], [12163515, 12165232]] [[12015861, 12015901], [12089416, 12089470], [12120122, 12126103], [12129991, 12130125], [12130999, 12131175], [12136023, 12136125], [12161671, 12162162], [12163515, 12164694]]
ENST00000442081 [[12012723, 12012799], [12015758, 12015901], [12020480, 12020651], [12089416, 12089470], [12120122, 12120167], [12136023, 12136125], [12161671, 12162124]] [[12020584, 12020651], [12089416, 12089470], [12120122, 12120167], [12136023, 12136125], [12161671, 12162124]]
ENST00000478545 [[12012934, 12013022], [12015758, 12015901], [12089416, 12089470], [12120122, 12120413]] [[12015861, 12015901], [12089416, 12089470], [12120122, 12120413]]
ENST00000484210 [[12015819, 12015901], [12037958, 12039478]] [[12015861, 12015901], [12037958, 12038062]]
ENST00000541134 [[12125978, 12126103], [12130999, 12131175], [12161671, 12162162], [12163515, 12164808]] [[12131093, 12131175], [12161671, 12162162], [12163515, 12164694]]
ENST00000399469 [[12125978, 12126103], [12130999, 12131175], [12161671, 12162162], [12163515, 12164808]] [[12125978, 12126103], [12130999, 12131005]]
NM_002114 [[12012723, 12012799], [12015758, 12015901], [12089416, 12089470], [12120122, 12126103], [12129991, 12130125], [12130999, 12131175], [12136023, 12136125], [12161671, 12162162], [12163515, 12165232]] [[12015861, 12015901], [12089416, 12089470], [12120122, 12126103], [12129991, 12130125], [12130999, 12131175], [12136023, 12136125], [12161671, 12162162], [12163515, 12164694]]
Promoter
Chrom Start End Description
chr6 12008986 12009016 CAGE_peak_3_at_HIVEP1_5end
chr6 12009042 12009092 CAGE_peak_6_at_HIVEP1_5end
chr6 12011943 12012015 CAGE_peak_2_at_HIVEP1_5end
chr6 12012170 12012245 CAGE_peak_1_at_HIVEP1_5end
chr6 12012249 12012266 CAGE_peak_5_at_HIVEP1_5end
chr6 12012518 12012531 CAGE_peak_7_at_HIVEP1_5end
chr6 12012536 12012554 CAGE_peak_4_at_HIVEP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I011765 11765013 11773717 1.66 [{'connected_gene': 'ADTRP', 'score': 18.07}, {'connected_gene': 'HIVEP1', 'score': 17.97}, {'connected_gene': 'ENSG00000271897', 'score': 5.58}, {'connected_gene': 'TMEM170B', 'score': 4.53}, {'connected_gene': 'NEDD9', 'score': 1.18}, {'connected_gene': 'GC06M011750', 'score': 0.37}, {'connected_gene': 'GC06P011785', 'score': 0.37}]
chr6 GH06I011744 11744401 11745477 1.03 [{'connected_gene': 'ADTRP', 'score': 13.55}, {'connected_gene': 'HIVEP1', 'score': 13.45}, {'connected_gene': 'TMEM170B', 'score': 2.22}, {'connected_gene': 'GC06M011750', 'score': 0.44}, {'connected_gene': 'GC06P011709', 'score': 0.28}]
chr6 GH06I011741 11741714 11742093 0.36 [{'connected_gene': 'ADTRP', 'score': 16.14}, {'connected_gene': 'HIVEP1', 'score': 1.27}, {'connected_gene': 'GC06M011750', 'score': 0.44}, {'connected_gene': 'GC06P011709', 'score': 0.29}]
chr6 GH06I011363 11363870 11371000 1.4 [{'connected_gene': 'ERVFRD-1', 'score': 10.35}, {'connected_gene': 'ENSG00000247925', 'score': 10.3}, {'connected_gene': 'HIVEP1', 'score': 9.7}, {'connected_gene': 'ENSG00000234427', 'score': 5.34}, {'connected_gene': 'GC06M011330', 'score': 0.44}, {'connected_gene': 'NEDD9', 'score': 0.39}]
chr6 GH06I011774 11774437 11774760 0.34 [{'connected_gene': 'HIVEP1', 'score': 18.76}, {'connected_gene': 'ADTRP', 'score': 12.17}, {'connected_gene': 'TMEM170B', 'score': 4.18}, {'connected_gene': 'NEDD9', 'score': 1.15}, {'connected_gene': 'GC06P011785', 'score': 0.39}, {'connected_gene': 'GC06M011750', 'score': 0.34}]
chr6 GH06I011709 11709806 11715530 1.59 [{'connected_gene': 'HIVEP1', 'score': 16.88}, {'connected_gene': 'ADTRP', 'score': 6.05}, {'connected_gene': 'TMEM170B', 'score': 5.4}, {'connected_gene': 'THAP12P5', 'score': 4.96}, {'connected_gene': 'NEDD9', 'score': 1.82}, {'connected_gene': 'GC06P011709', 'score': 0.77}, {'connected_gene': 'GC06P011703', 'score': 0.44}, {'connected_gene': 'LOC340184', 'score': 0.34}, {'connected_gene': 'GC06M011750', 'score': 0.28}]
chr6 GH06I011728 11728070 11730179 1.15 [{'connected_gene': 'HIVEP1', 'score': 5.25}, {'connected_gene': 'GC06P011709', 'score': 0.37}, {'connected_gene': 'GC06M011750', 'score': 0.34}, {'connected_gene': 'ADTRP', 'score': 0.18}]
chr6 GH06I012006 12006958 12015181 2.32 [{'connected_gene': 'HIVEP1', 'score': 561.12}, {'connected_gene': 'RPL15P3', 'score': 25.14}, {'connected_gene': 'ENSG00000229896', 'score': 5.65}, {'connected_gene': 'EDN1', 'score': 0.07}]
chr6 GH06I011426 11426905 11430841 1.4 [{'connected_gene': 'HIVEP1', 'score': 18.63}, {'connected_gene': 'NEDD9', 'score': 11.12}, {'connected_gene': 'RNU1-64P', 'score': 10.72}, {'connected_gene': 'THAP12P5', 'score': 10.69}, {'connected_gene': 'ENSG00000247925', 'score': 10.67}, {'connected_gene': 'ERVFRD-1', 'score': 7.09}, {'connected_gene': 'LOC105374928', 'score': 0.39}, {'connected_gene': 'LOC105374929', 'score': 0.39}, {'connected_gene': 'ENSG00000233656', 'score': 0.39}, {'connected_gene': 'ENSG00000242753', 'score': 0.22}]
chr6 GH06I011683 11683971 11684179 0.25 [{'connected_gene': 'HIVEP1', 'score': 15.56}, {'connected_gene': 'LOC340184', 'score': 0.44}, {'connected_gene': 'GC06P011650', 'score': 0.29}]
chr6 GH06I012362 12362279 12367582 1.56 [{'connected_gene': 'HIVEP1', 'score': 25.58}, {'connected_gene': 'EDN1', 'score': 11.23}, {'connected_gene': 'RN7SKP293', 'score': 5.04}, {'connected_gene': 'LOC105374931', 'score': 0.29}, {'connected_gene': 'SUMO2P12', 'score': 0.25}]
chr6 GH06I012265 12265195 12267062 1.12 [{'connected_gene': 'HIVEP1', 'score': 12.22}, {'connected_gene': 'EDN1', 'score': 2.27}, {'connected_gene': 'SUMO2P12', 'score': 0.23}]
chr6 GH06I012277 12277320 12277726 0.61 [{'connected_gene': 'HIVEP1', 'score': 17.15}, {'connected_gene': 'EDN1', 'score': 1.77}, {'connected_gene': 'SUMO2P12', 'score': 0.26}]
chr6 GH06I012275 12275157 12275403 1.2 [{'connected_gene': 'HIVEP1', 'score': 9.3}, {'connected_gene': 'EDN1', 'score': 1.77}, {'connected_gene': 'SUMO2P12', 'score': 0.26}]
chr6 GH06I012264 12264790 12265054 0.5 [{'connected_gene': 'HIVEP1', 'score': 12.03}, {'connected_gene': 'EDN1', 'score': 2.38}, {'connected_gene': 'SUMO2P12', 'score': 0.23}]
chr6 GH06I012207 12207854 12208990 1.11 [{'connected_gene': 'HIVEP1', 'score': 19.67}, {'connected_gene': 'EDN1', 'score': 1.87}, {'connected_gene': 'ENSG00000229896', 'score': 0.08}]
chr6 GH06I012250 12250491 12250669 0.63 [{'connected_gene': 'HIVEP1', 'score': 8.72}, {'connected_gene': 'EDN1', 'score': 1.59}, {'connected_gene': 'ENSG00000229896', 'score': 0.07}]
chr6 GH06I012232 12232242 12234774 1.45 [{'connected_gene': 'HIVEP1', 'score': 18.91}, {'connected_gene': 'EDN1', 'score': 2.07}, {'connected_gene': 'ENSG00000229896', 'score': 0.07}]
chr6 GH06I012182 12182771 12182979 0.34 [{'connected_gene': 'HIVEP1', 'score': 17.51}, {'connected_gene': 'EDN1', 'score': 1.54}, {'connected_gene': 'ENSG00000229896', 'score': 0.1}]
chr6 GH06I012044 12044401 12045717 0.98 [{'connected_gene': 'HIVEP1', 'score': 11.9}, {'connected_gene': 'ENSG00000229896', 'score': 0.28}, {'connected_gene': 'EDN1', 'score': 0.08}]
chr6 GH06I012241 12241284 12242951 0.95 [{'connected_gene': 'HIVEP1', 'score': 7.74}, {'connected_gene': 'EDN1', 'score': 1.68}, {'connected_gene': 'ENSG00000229896', 'score': 0.07}]
chr6 GH06I012369 12369694 12370558 1.25 [{'connected_gene': 'HIVEP1', 'score': 11.24}, {'connected_gene': 'LOC105374931', 'score': 0.31}, {'connected_gene': 'SUMO2P12', 'score': 0.23}]
chr6 GH06I012359 12359166 12359308 0.37 [{'connected_gene': 'HIVEP1', 'score': 9.71}, {'connected_gene': 'LOC105374931', 'score': 0.28}, {'connected_gene': 'SUMO2P12', 'score': 0.28}]
chr6 GH06I012047 12047081 12054230 1.33 [{'connected_gene': 'HIVEP1', 'score': 22.08}, {'connected_gene': 'LOC101928253', 'score': 11.19}, {'connected_gene': 'EDN1', 'score': 1.2}, {'connected_gene': 'ENSG00000229896', 'score': 0.26}]
chr6 GH06I011978 11978194 11978964 0.84 [{'connected_gene': 'HIVEP1', 'score': 13.02}, {'connected_gene': 'LOC101928253', 'score': 0.34}, {'connected_gene': 'LOC102724379', 'score': 0.14}]
chr6 GH06I011975 11975168 11976209 1.21 [{'connected_gene': 'HIVEP1', 'score': 16.83}, {'connected_gene': 'TMEM170B', 'score': 10.26}, {'connected_gene': 'LOC101928253', 'score': 0.31}, {'connected_gene': 'LOC102724379', 'score': 0.14}]
chr6 GH06I011854 11854201 11855400 1.13 [{'connected_gene': 'HIVEP1', 'score': 14.24}, {'connected_gene': 'TMEM170B', 'score': 2.88}, {'connected_gene': 'AMD1P4', 'score': 0.44}, {'connected_gene': 'GC06M011802', 'score': 0.37}, {'connected_gene': 'GC06P011785', 'score': 0.2}]
chr6 GH06I011730 11730533 11733163 1.58 [{'connected_gene': 'HIVEP1', 'score': 21.79}, {'connected_gene': 'TMEM170B', 'score': 4.89}, {'connected_gene': 'THAP12P5', 'score': 4.64}, {'connected_gene': 'ADTRP', 'score': 4.45}, {'connected_gene': 'NEDD9', 'score': 1.42}, {'connected_gene': 'GC06M011750', 'score': 0.37}, {'connected_gene': 'GC06P011709', 'score': 0.34}]
chr6 GH06I012164 12164428 12164515 0.2 [{'connected_gene': 'EDN1', 'score': 0.15}, {'connected_gene': 'ENSG00000229896', 'score': 0.1}, {'connected_gene': 'HIVEP1', 'score': 0.1}]
chr6 GH06I012160 12160061 12161441 0.31 [{'connected_gene': 'EDN1', 'score': 10.45}, {'connected_gene': 'ENSG00000229896', 'score': 0.1}, {'connected_gene': 'HIVEP1', 'score': 0.1}]
chr6 GH06I012147 12147860 12149363 0.6 [{'connected_gene': 'EDN1', 'score': 11.29}, {'connected_gene': 'ENSG00000229896', 'score': 0.11}, {'connected_gene': 'HIVEP1', 'score': 0.11}]
chr6 GH06I011998 11998945 12000245 0.66 [{'connected_gene': 'LOC101928253', 'score': 550.77}, {'connected_gene': 'RPL15P3', 'score': 12.9}, {'connected_gene': 'ERVFRD-1', 'score': 10.3}, {'connected_gene': 'HIVEP1', 'score': 10.11}, {'connected_gene': 'ENSG00000229896', 'score': 5.77}, {'connected_gene': 'LOC102724379', 'score': 0.12}]
chr6 GH06I011920 11920348 11922068 1.6 [{'connected_gene': 'LOC101928253', 'score': 11.99}, {'connected_gene': 'HIVEP1', 'score': 10.68}, {'connected_gene': 'LOC102724379', 'score': 0.23}]
chr6 GH06I012000 12000687 12002396 1.27 [{'connected_gene': 'LOC101928253', 'score': 550.77}, {'connected_gene': 'HIVEP1', 'score': 0.44}]
chr6 GH06I011143 11143140 11144999 1.56 [{'connected_gene': 'TFAP2A-AS1', 'score': 19.48}, {'connected_gene': 'ENSG00000247925', 'score': 11.76}, {'connected_gene': 'HIVEP1', 'score': 10.07}, {'connected_gene': 'TMEM170B', 'score': 3.78}, {'connected_gene': 'NEDD9', 'score': 1.6}, {'connected_gene': 'C6orf52', 'score': 1.28}, {'connected_gene': 'GC06P011137', 'score': 0.44}, {'connected_gene': 'ENSG00000271245', 'score': 0.39}]
chr6 GH06I011341 11341403 11342359 1.27 [{'connected_gene': 'TFAP2A-AS1', 'score': 10.34}, {'connected_gene': 'HIVEP1', 'score': 10.07}, {'connected_gene': 'TMEM170B', 'score': 7.03}, {'connected_gene': 'NEDD9', 'score': 2.55}, {'connected_gene': 'GC06M011330', 'score': 0.37}, {'connected_gene': 'LOC105374925', 'score': 0.23}]
chr6 GH06I011519 11519141 11520394 1.3 [{'connected_gene': 'TMEM170B', 'score': 34.43}, {'connected_gene': 'NEDD9', 'score': 1.91}, {'connected_gene': 'HIVEP1', 'score': 1.57}, {'connected_gene': 'THAP12P5', 'score': 0.44}, {'connected_gene': 'LOC105374928', 'score': 0.15}]
chr6 GH06I011552 11552382 11553000 0.91 [{'connected_gene': 'TMEM170B', 'score': 11.76}, {'connected_gene': 'HIVEP1', 'score': 5.35}, {'connected_gene': 'NEDD9', 'score': 3.44}, {'connected_gene': 'PIR31990', 'score': 0.31}]
chr6 GH06I011522 11522935 11523072 0.75 [{'connected_gene': 'TMEM170B', 'score': 4.85}, {'connected_gene': 'HIVEP1', 'score': 4.22}, {'connected_gene': 'THAP12P5', 'score': 0.44}, {'connected_gene': 'LOC105374928', 'score': 0.14}]
chr6 GH06I012112 12112841 12115630 0.93 [{'connected_gene': 'ENSG00000229896', 'score': 0.14}, {'connected_gene': 'HIVEP1', 'score': 0.14}, {'connected_gene': 'EDN1', 'score': 0.11}]
chr6 GH06I012058 12058601 12058800 0.38 [{'connected_gene': 'ENSG00000229896', 'score': 0.23}, {'connected_gene': 'HIVEP1', 'score': 0.23}, {'connected_gene': 'EDN1', 'score': 0.08}]
chr6 GH06I012037 12037801 12038000 0.31 [{'connected_gene': 'ENSG00000229896', 'score': 0.29}, {'connected_gene': 'HIVEP1', 'score': 0.29}, {'connected_gene': 'EDN1', 'score': 0.07}]
chr6 GH06I012021 12021067 12021804 0.59 [{'connected_gene': 'ENSG00000229896', 'score': 0.39}, {'connected_gene': 'HIVEP1', 'score': 0.39}, {'connected_gene': 'EDN1', 'score': 0.07}]
chr6 GH06I012065 12064816 12066595 1.02 [{'connected_gene': 'ENSG00000229896', 'score': 0.22}, {'connected_gene': 'HIVEP1', 'score': 0.22}, {'connected_gene': 'EDN1', 'score': 0.08}]
chr6 GH06I012059 12059601 12059800 0.31 [{'connected_gene': 'ENSG00000229896', 'score': 0.23}, {'connected_gene': 'HIVEP1', 'score': 0.23}, {'connected_gene': 'EDN1', 'score': 0.08}]
chr6 GH06I012019 12019947 12020907 0.7 [{'connected_gene': 'ENSG00000229896', 'score': 0.39}, {'connected_gene': 'HIVEP1', 'score': 0.39}, {'connected_gene': 'EDN1', 'score': 0.07}]
chr6 GH06I012118 12118467 12120138 0.78 [{'connected_gene': 'ENSG00000229896', 'score': 0.14}, {'connected_gene': 'HIVEP1', 'score': 0.14}, {'connected_gene': 'EDN1', 'score': 0.11}]
chr6 GH06I012024 12024693 12026031 0.78 [{'connected_gene': 'ENSG00000229896', 'score': 0.37}, {'connected_gene': 'HIVEP1', 'score': 0.37}, {'connected_gene': 'EDN1', 'score': 0.07}]
chr6 GH06I012022 12022152 12023499 0.8 [{'connected_gene': 'ENSG00000229896', 'score': 0.37}, {'connected_gene': 'HIVEP1', 'score': 0.37}, {'connected_gene': 'EDN1', 'score': 0.07}]
chr6 GH06I012060 12060348 12061862 1.05 [{'connected_gene': 'ENSG00000229896', 'score': 0.23}, {'connected_gene': 'HIVEP1', 'score': 0.23}, {'connected_gene': 'EDN1', 'score': 0.08}]
chr6 GH06I012033 12033581 12034875 0.87 [{'connected_gene': 'ENSG00000229896', 'score': 0.31}, {'connected_gene': 'HIVEP1', 'score': 0.31}, {'connected_gene': 'EDN1', 'score': 0.07}]
chr6 GH06I012064 12064308 12064457 0.59 [{'connected_gene': 'ENSG00000229896', 'score': 0.22}, {'connected_gene': 'HIVEP1', 'score': 0.22}, {'connected_gene': 'EDN1', 'score': 0.08}]
chr6 GH06I011042 11042356 11044657 1.98 [{'connected_gene': 'PIR47110', 'score': 550.77}, {'connected_gene': 'ELOVL2-AS1', 'score': 550.77}, {'connected_gene': 'ELOVL2', 'score': 550.77}, {'connected_gene': 'RNA5SP203', 'score': 24.01}, {'connected_gene': 'TFAP2A-AS1', 'score': 20.02}, {'connected_gene': 'SYCP2L', 'score': 16.08}, {'connected_gene': 'GCM2', 'score': 10.34}, {'connected_gene': 'ENSG00000235051', 'score': 10.33}, {'connected_gene': 'HIVEP1', 'score': 10.3}, {'connected_gene': 'ERVFRD-1', 'score': 9.89}, {'connected_gene': 'LOC100421248', 'score': 0.31}]

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