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
ENST00000260702 [[100007446, 100008748], [100010821, 100010933], [100011322, 100011459], [100012109, 100012225], [100013309, 100013553], [100015333, 100015496], [100016536, 100016704], [100017406, 100017561], [100017737, 100017921], [100018765, 100018985], [100019147, 100019186], [100020678, 100020884], [100021791, 100021970], [100022499, 100022808], [100027888, 100028007]] [[100008677, 100008748], [100010821, 100010933], [100011322, 100011459], [100012109, 100012225], [100013309, 100013553], [100015333, 100015496], [100016536, 100016704], [100017406, 100017561], [100017737, 100017921], [100018765, 100018985], [100019147, 100019186], [100020678, 100020884], [100021791, 100021970], [100022499, 100022776]]
NM_032211 [[100007442, 100008748], [100010821, 100010933], [100011322, 100011459], [100012109, 100012225], [100013309, 100013553], [100015333, 100015496], [100016536, 100016704], [100017406, 100017561], [100017737, 100017921], [100018765, 100018985], [100019147, 100019186], [100020678, 100020884], [100021791, 100021970], [100022499, 100022808], [100027888, 100028007]] [[100008677, 100008748], [100010821, 100010933], [100011322, 100011459], [100012109, 100012225], [100013309, 100013553], [100015333, 100015496], [100016536, 100016704], [100017406, 100017561], [100017737, 100017921], [100018765, 100018985], [100019147, 100019186], [100020678, 100020884], [100021791, 100021970], [100022499, 100022776]]
Promoter
Chrom Start End Description
chr10 100027943 100027958 CAGE_peak_1_at_LOXL4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I097291 97291039 97294222 2.08 [{'connected_gene': 'ARHGAP19', 'score': 564.72}, {'connected_gene': 'ARHGAP19-SLIT1', 'score': 550.77}, {'connected_gene': 'R3HCC1L', 'score': 26.06}, {'connected_gene': 'SLIT1', 'score': 18.74}, {'connected_gene': 'NPM1P26', 'score': 11.63}, {'connected_gene': 'LOXL4', 'score': 11.07}, {'connected_gene': 'ENSG00000230928', 'score': 9.89}, {'connected_gene': 'RPL12P27', 'score': 4.87}, {'connected_gene': 'ENSG00000231398', 'score': 0.37}]
chr10 GH10I098462 98462449 98462577 0.43 [{'connected_gene': 'PYROXD2', 'score': 10.0}, {'connected_gene': 'LOXL4', 'score': 9.49}, {'connected_gene': 'PIR35546', 'score': 0.77}, {'connected_gene': 'GC10M098426', 'score': 0.39}, {'connected_gene': 'HPSE2', 'score': 0.03}]
chr10 GH10I098348 98348925 98350400 0.63 [{'connected_gene': 'PYROXD2', 'score': 9.43}, {'connected_gene': 'LOXL4', 'score': 9.0}, {'connected_gene': 'LOC105378449', 'score': 0.39}, {'connected_gene': 'GC10M098326', 'score': 0.34}]
chr10 GH10I098373 98373491 98375584 0.74 [{'connected_gene': 'PYROXD2', 'score': 63.37}, {'connected_gene': 'LOXL4', 'score': 18.14}, {'connected_gene': 'MIR1287', 'score': 13.08}, {'connected_gene': 'LOC105378449', 'score': 0.39}]
chr10 GH10I098382 98382493 98384225 0.46 [{'connected_gene': 'PYROXD2', 'score': 73.85}, {'connected_gene': 'LOXL4', 'score': 19.15}, {'connected_gene': 'MIR1287', 'score': 0.39}, {'connected_gene': 'LOC105378449', 'score': 0.34}]
chr10 GH10I098390 98390930 98392473 0.76 [{'connected_gene': 'PYROXD2', 'score': 63.58}, {'connected_gene': 'LOXL4', 'score': 6.4}, {'connected_gene': 'MIR1287', 'score': 0.77}, {'connected_gene': 'LOC105378449', 'score': 0.29}]
chr10 GH10I098331 98331984 98332133 0.49 [{'connected_gene': 'LOXL4', 'score': 11.21}, {'connected_gene': 'PYROXD2', 'score': 5.89}, {'connected_gene': 'GC10M098326', 'score': 0.77}, {'connected_gene': 'LOC105378449', 'score': 0.31}]
chr10 GH10I098380 98380378 98381267 0.62 [{'connected_gene': 'LOXL4', 'score': 17.2}, {'connected_gene': 'PYROXD2', 'score': 6.4}, {'connected_gene': 'MIR1287', 'score': 0.39}, {'connected_gene': 'LOC105378449', 'score': 0.37}]
chr10 GH10I098295 98295601 98296327 0.38 [{'connected_gene': 'LOXL4', 'score': 11.88}, {'connected_gene': 'PYROXD2', 'score': 9.75}, {'connected_gene': 'GC10P098268', 'score': 0.31}, {'connected_gene': 'GC10M098326', 'score': 0.29}]
chr10 GH10I098293 98293598 98294587 0.38 [{'connected_gene': 'LOXL4', 'score': 12.22}, {'connected_gene': 'SFRP5', 'score': 5.52}, {'connected_gene': 'R3HCC1L', 'score': 4.8}, {'connected_gene': 'GC10P098268', 'score': 0.31}, {'connected_gene': 'GC10M098326', 'score': 0.29}]
chr10 GH10I098223 98223874 98225678 0.31 [{'connected_gene': 'LOXL4', 'score': 10.56}, {'connected_gene': 'ENSG00000230928', 'score': 0.31}, {'connected_gene': 'GC10P098173', 'score': 0.23}, {'connected_gene': 'R3HCC1L', 'score': 0.16}]
chr10 GH10I098137 98137644 98138499 0.31 [{'connected_gene': 'LOXL4', 'score': 28.74}, {'connected_gene': 'ENSG00000230928', 'score': 15.91}, {'connected_gene': 'R3HCC1L', 'score': 0.77}, {'connected_gene': 'GC10P098173', 'score': 0.28}]
chr10 GH10I098226 98226884 98227013 0.75 [{'connected_gene': 'LOXL4', 'score': 10.41}, {'connected_gene': 'ENSG00000230928', 'score': 0.31}, {'connected_gene': 'GC10P098173', 'score': 0.23}, {'connected_gene': 'R3HCC1L', 'score': 0.16}]
chr10 GH10I098170 98170624 98170773 0.69 [{'connected_gene': 'LOXL4', 'score': 10.55}, {'connected_gene': 'GC10P098173', 'score': 0.77}, {'connected_gene': 'R3HCC1L', 'score': 0.28}]
chr10 GH10I098141 98141601 98141800 0.46 [{'connected_gene': 'LOXL4', 'score': 10.31}, {'connected_gene': 'R3HCC1L', 'score': 0.44}, {'connected_gene': 'GC10P098173', 'score': 0.29}]
chr10 GH10I098338 98338104 98339073 0.43 [{'connected_gene': 'LOXL4', 'score': 16.1}, {'connected_gene': 'GC10M098326', 'score': 0.39}, {'connected_gene': 'LOC105378449', 'score': 0.34}]
chr10 GH10I098332 98332984 98333133 0.59 [{'connected_gene': 'LOXL4', 'score': 11.21}, {'connected_gene': 'GC10M098326', 'score': 0.44}, {'connected_gene': 'LOC105378449', 'score': 0.31}]
chr10 GH10I098375 98375861 98377357 0.6 [{'connected_gene': 'LOXL4', 'score': 9.95}, {'connected_gene': 'MIR1287', 'score': 0.37}, {'connected_gene': 'LOC105378449', 'score': 0.37}]
chr10 GH10I098378 98378844 98378993 0.31 [{'connected_gene': 'LOXL4', 'score': 9.94}, {'connected_gene': 'MIR1287', 'score': 0.37}, {'connected_gene': 'LOC105378449', 'score': 0.37}]
chr10 GH10I098267 98267264 98270593 2.15 [{'connected_gene': 'LOXL4', 'score': 573.19}, {'connected_gene': 'GC10P098268', 'score': 550.77}, {'connected_gene': 'ENSG00000230928', 'score': 15.16}, {'connected_gene': 'GC10M098326', 'score': 0.22}]
chr10 GH10I098308 98308704 98310177 0.99 [{'connected_gene': 'LOXL4', 'score': 11.88}, {'connected_gene': 'ENSG00000230928', 'score': 11.15}, {'connected_gene': 'GC10M098326', 'score': 0.37}, {'connected_gene': 'GC10P098268', 'score': 0.26}]
chr10 GH10I098262 98262600 98263000 0.85 [{'connected_gene': 'LOXL4', 'score': 0.44}, {'connected_gene': 'ENSG00000230928', 'score': 0.39}]
chr10 GH10I098260 98260812 98261867 0.31 [{'connected_gene': 'LOXL4', 'score': 22.55}, {'connected_gene': 'ENSG00000230928', 'score': 0.44}]
chr10 GH10I098266 98266201 98266600 0.54 [{'connected_gene': 'LOXL4', 'score': 574.22}, {'connected_gene': 'ENSG00000230928', 'score': 0.39}]
chr10 GH10I097336 97336150 97338666 0.96 [{'connected_gene': 'SLIT1', 'score': 15.66}, {'connected_gene': 'R3HCC1L', 'score': 14.76}, {'connected_gene': 'NPM1P26', 'score': 14.69}, {'connected_gene': 'EXOSC1', 'score': 13.31}, {'connected_gene': 'RPL13AP5', 'score': 11.1}, {'connected_gene': 'LOXL4', 'score': 10.94}, {'connected_gene': 'MARVELD1', 'score': 10.65}, {'connected_gene': 'LCOR', 'score': 10.33}, {'connected_gene': 'TM9SF3', 'score': 10.2}, {'connected_gene': 'PGAM1', 'score': 7.63}, {'connected_gene': 'LOC105378448', 'score': 0.77}, {'connected_gene': 'FRAT2', 'score': 0.77}, {'connected_gene': 'RPL34P20', 'score': 0.22}]
chr10 GH10I097857 97857285 97859511 0.57 [{'connected_gene': 'SFRP5', 'score': 10.82}, {'connected_gene': 'LOXL4', 'score': 9.23}, {'connected_gene': 'GOLGA7B', 'score': 5.92}, {'connected_gene': 'PIR47260', 'score': 0.31}, {'connected_gene': 'CRTAC1', 'score': 0.09}]
chr10 GH10I097424 97424792 97429152 2.21 [{'connected_gene': 'PGAM1', 'score': 560.74}, {'connected_gene': 'RRP12', 'score': 550.77}, {'connected_gene': 'GC10M097416', 'score': 550.77}, {'connected_gene': 'LOC644215', 'score': 550.77}, {'connected_gene': 'TM9SF3', 'score': 13.91}, {'connected_gene': 'MARVELD1', 'score': 13.22}, {'connected_gene': 'RPL13AP5', 'score': 12.62}, {'connected_gene': 'EXOSC1', 'score': 11.11}, {'connected_gene': 'LOXL4', 'score': 10.74}, {'connected_gene': 'GC10P097430', 'score': 0.77}]
chr10 GH10I098322 98322516 98324389 1.34 [{'connected_gene': 'HPS1', 'score': 10.71}, {'connected_gene': 'LOXL4', 'score': 10.64}, {'connected_gene': 'ENSG00000230928', 'score': 10.55}, {'connected_gene': 'PYROXD2', 'score': 4.87}, {'connected_gene': 'R3HCC1L', 'score': 3.36}, {'connected_gene': 'GC10M098326', 'score': 0.77}, {'connected_gene': 'GC10P098268', 'score': 0.23}]
chr10 GH10I098444 98444793 98447589 2 [{'connected_gene': 'HPS1', 'score': 557.42}, {'connected_gene': 'LOC101927278', 'score': 550.77}, {'connected_gene': 'PYROXD2', 'score': 15.07}, {'connected_gene': 'LOXL4', 'score': 11.4}, {'connected_gene': 'ENSG00000230928', 'score': 10.32}, {'connected_gene': 'MIR4685', 'score': 0.39}, {'connected_gene': 'GC10M098426', 'score': 0.31}]
chr10 GH10I098259 98259621 98260673 1.24 [{'connected_gene': 'R3HCC1L', 'score': 1.76}, {'connected_gene': 'ENSG00000230928', 'score': 0.44}, {'connected_gene': 'LOXL4', 'score': 0.44}]
chr10 GH10I098132 98132873 98136052 2.05 [{'connected_gene': 'R3HCC1L', 'score': 602.13}, {'connected_gene': 'HPS1', 'score': 37.57}, {'connected_gene': 'LOXL4', 'score': 29.03}, {'connected_gene': 'EXOSC1', 'score': 24.74}, {'connected_gene': 'MMS19', 'score': 19.47}, {'connected_gene': 'MARVELD1', 'score': 18.26}, {'connected_gene': 'ENSG00000278752', 'score': 0.22}]
chr10 GH10I097569 97569965 97576477 1.86 [{'connected_gene': 'ANKRD2', 'score': 556.73}, {'connected_gene': 'MMS19', 'score': 20.83}, {'connected_gene': 'R3HCC1L', 'score': 15.3}, {'connected_gene': 'HPS1', 'score': 13.67}, {'connected_gene': 'EXOSC1', 'score': 11.56}, {'connected_gene': 'LOXL4', 'score': 11.46}, {'connected_gene': 'LCOR', 'score': 10.93}, {'connected_gene': 'RPL13AP5', 'score': 10.91}, {'connected_gene': 'MARVELD1', 'score': 10.22}, {'connected_gene': 'ENSG00000230928', 'score': 9.74}, {'connected_gene': 'MORN4', 'score': 7.47}, {'connected_gene': 'PI4K2A', 'score': 5.91}, {'connected_gene': 'HOGA1', 'score': 5.09}, {'connected_gene': 'FRAT1', 'score': 5.06}, {'connected_gene': 'SLIT1', 'score': 5.06}, {'connected_gene': 'UBTD1', 'score': 4.93}, {'connected_gene': 'RRP12', 'score': 4.45}, {'connected_gene': 'GC10M097562', 'score': 0.11}]
chr10 GH10I098360 98360590 98362195 1.31 [{'connected_gene': 'LOC105378449', 'score': 550.77}, {'connected_gene': 'PYROXD2', 'score': 13.79}, {'connected_gene': 'LOXL4', 'score': 6.25}, {'connected_gene': 'MIR1287', 'score': 0.29}]
chr10 GH10I097331 97331217 97336082 2.27 [{'connected_gene': 'LOC105378448', 'score': 550.77}, {'connected_gene': 'FRAT2', 'score': 550.77}, {'connected_gene': 'EXOSC1', 'score': 28.46}, {'connected_gene': 'RPL13AP5', 'score': 23.93}, {'connected_gene': 'NPM1P26', 'score': 23.33}, {'connected_gene': 'R3HCC1L', 'score': 20.94}, {'connected_gene': 'LOXL4', 'score': 20.23}, {'connected_gene': 'ENSG00000230928', 'score': 19.77}, {'connected_gene': 'TM9SF3', 'score': 19.33}, {'connected_gene': 'SLIT1', 'score': 16.59}, {'connected_gene': 'MARVELD1', 'score': 14.97}, {'connected_gene': 'ARHGAP19', 'score': 13.55}, {'connected_gene': 'LCOR', 'score': 10.67}, {'connected_gene': 'ZFYVE27', 'score': 9.75}, {'connected_gene': 'FRAT1', 'score': 0.39}]
chr10 GH10I099115 99115425 99116403 0.54 [{'connected_gene': 'EBAG9P1', 'score': 14.11}, {'connected_gene': 'LOXL4', 'score': 11.33}, {'connected_gene': 'PYROXD2', 'score': 10.34}, {'connected_gene': 'ENSG00000230928', 'score': 10.26}, {'connected_gene': 'HPSE2', 'score': 5.54}, {'connected_gene': 'CNNM1', 'score': 5.41}, {'connected_gene': 'RPL7P36', 'score': 0.2}]
chr10 GH10I098394 98394077 98395208 0.52 [{'connected_gene': 'MIR1287', 'score': 550.77}, {'connected_gene': 'PYROXD2', 'score': 38.96}, {'connected_gene': 'LOXL4', 'score': 6.78}, {'connected_gene': 'LOC105378449', 'score': 0.29}]
chr10 GH10I097318 97318158 97322198 2.26 [{'connected_gene': 'FRAT1', 'score': 550.77}, {'connected_gene': 'RPL13AP5', 'score': 15.06}, {'connected_gene': 'ARHGAP19', 'score': 13.82}, {'connected_gene': 'NPM1P26', 'score': 13.46}, {'connected_gene': 'MORN4', 'score': 13.02}, {'connected_gene': 'SLIT1', 'score': 12.68}, {'connected_gene': 'EXOSC1', 'score': 11.57}, {'connected_gene': 'ENSG00000230928', 'score': 10.92}, {'connected_gene': 'LCOR', 'score': 10.68}, {'connected_gene': 'LOXL4', 'score': 10.04}, {'connected_gene': 'R3HCC1L', 'score': 9.98}, {'connected_gene': 'TM9SF3', 'score': 9.95}, {'connected_gene': 'LOC105378448', 'score': 0.39}]
chr10 GH10I098403 98403211 98405933 0.89 [{'connected_gene': 'GC10P098406', 'score': 550.77}, {'connected_gene': 'PYROXD2', 'score': 60.56}, {'connected_gene': 'LOXL4', 'score': 15.74}, {'connected_gene': 'HPS1', 'score': 5.23}, {'connected_gene': 'MIR1287', 'score': 0.44}]
chr10 GH10I098410 98410765 98412944 0.31 [{'connected_gene': 'GC10P098412', 'score': 550.77}, {'connected_gene': 'PYROXD2', 'score': 70.42}, {'connected_gene': 'LOXL4', 'score': 6.2}, {'connected_gene': 'GC10P098406', 'score': 0.44}]
chr10 GH10I098173 98173166 98173953 0.71 [{'connected_gene': 'GC10P098173', 'score': 550.77}, {'connected_gene': 'ENSG00000230928', 'score': 15.3}, {'connected_gene': 'LOXL4', 'score': 10.02}, {'connected_gene': 'R3HCC1L', 'score': 0.28}]
chr10 GH10I098246 98246449 98247772 0.38 [{'connected_gene': 'ENSG00000230928', 'score': 16.5}, {'connected_gene': 'LOXL4', 'score': 0.34}, {'connected_gene': 'GC10P098173', 'score': 0.19}]
chr10 GH10I097421 97421964 97424752 1.08 [{'connected_gene': 'PIR45391', 'score': 550.77}, {'connected_gene': 'GC10M097425', 'score': 550.77}, {'connected_gene': 'MMS19', 'score': 86.49}, {'connected_gene': 'LCOR', 'score': 60.04}, {'connected_gene': 'EXOSC1', 'score': 59.38}, {'connected_gene': 'R3HCC1L', 'score': 45.44}, {'connected_gene': 'NPM1P26', 'score': 31.97}, {'connected_gene': 'TM9SF3', 'score': 23.05}, {'connected_gene': 'RPL13AP5', 'score': 21.76}, {'connected_gene': 'MARVELD1', 'score': 21.58}, {'connected_gene': 'LOXL4', 'score': 20.47}, {'connected_gene': 'ZDHHC16', 'score': 18.47}, {'connected_gene': 'MORN4', 'score': 14.48}, {'connected_gene': 'PYROXD2', 'score': 10.11}, {'connected_gene': 'ENSG00000230928', 'score': 9.74}, {'connected_gene': 'SLIT1', 'score': 7.76}, {'connected_gene': 'RRP12', 'score': 0.77}, {'connected_gene': 'GC10M097416', 'score': 0.77}, {'connected_gene': 'LOC644215', 'score': 0.77}]
chr10 GH10I098459 98459680 98462104 1.45 [{'connected_gene': 'PIR35546', 'score': 550.77}, {'connected_gene': 'HPS1', 'score': 15.07}, {'connected_gene': 'PYROXD2', 'score': 10.56}, {'connected_gene': 'LOXL4', 'score': 10.05}, {'connected_gene': 'HPSE2', 'score': 4.81}, {'connected_gene': 'GC10M098426', 'score': 0.39}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.