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
ENST00000367549 [[182808503, 182808591], [182811679, 182811812], [182812428, 182812569], [182821367, 182821479], [182822440, 182822553], [182823164, 182823313], [182825666, 182825713], [182827238, 182827375], [182827685, 182827775], [182827867, 182828029], [182828174, 182828252], [182829127, 182829319], [182835578, 182835720], [182836095, 182836178], [182841471, 182841628], [182843988, 182844089], [182845184, 182845398], [182845581, 182845676], [182845964, 182846038], [182847155, 182847308], [182848384, 182848545], [182849631, 182849743], [182850398, 182850560], [182850654, 182850782], [182852273, 182852503], [182852654, 182852770], [182853747, 182853948], [182856217, 182856886]] [[182811701, 182811812], [182812428, 182812569], [182821367, 182821479], [182822440, 182822553], [182823164, 182823313], [182825666, 182825713], [182827238, 182827375], [182827685, 182827775], [182827867, 182828029], [182828174, 182828252], [182829127, 182829319], [182835578, 182835720], [182836095, 182836178], [182841471, 182841628], [182843988, 182844089], [182845184, 182845398], [182845581, 182845676], [182845964, 182846038], [182847155, 182847308], [182848384, 182848545], [182849631, 182849743], [182850398, 182850560], [182850654, 182850782], [182852273, 182852503], [182852654, 182852770], [182853747, 182853948], [182856217, 182856569]]
ENST00000490519 [[182845263, 182845398], [182845581, 182845884]] None
ENST00000483416 [[182808868, 182809070], [182811679, 182811812], [182812428, 182812569], [182821367, 182821479], [182822440, 182822553], [182823164, 182823277]] None
ENST00000479271 [[182823175, 182823313], [182824711, 182824848], [182825666, 182825707]] None
ENST00000477802 [[182827964, 182828029], [182828174, 182828252], [182829127, 182829440]] None
ENST00000474446 [[182846048, 182846182], [182847155, 182847308], [182848384, 182848545], [182849631, 182849743], [182850398, 182850560], [182850654, 182850780]] None
ENST00000485081 [[182846552, 182847308], [182848384, 182848545], [182849631, 182849743], [182850398, 182850560], [182850654, 182850782], [182852273, 182852503], [182852654, 182852770], [182853747, 182853948], [182856217, 182856882]] None
ENST00000473076 [[182850419, 182850560], [182850654, 182850782], [182852273, 182852351], [182852454, 182852503], [182852654, 182852770], [182853747, 182853948], [182856217, 182856882]] None
NM_001357 [[182808438, 182808591], [182811679, 182811812], [182812428, 182812569], [182821367, 182821479], [182822440, 182822553], [182823164, 182823313], [182825666, 182825713], [182827238, 182827375], [182827685, 182827775], [182827867, 182828029], [182828174, 182828252], [182829127, 182829319], [182835578, 182835720], [182836095, 182836178], [182841471, 182841628], [182843988, 182844089], [182845184, 182845398], [182845581, 182845676], [182845964, 182846038], [182847155, 182847308], [182848384, 182848545], [182849631, 182849743], [182850398, 182850560], [182850654, 182850782], [182852273, 182852503], [182852654, 182852770], [182853747, 182853948], [182856217, 182857117]] [[182811701, 182811812], [182812428, 182812569], [182821367, 182821479], [182822440, 182822553], [182823164, 182823313], [182825666, 182825713], [182827238, 182827375], [182827685, 182827775], [182827867, 182828029], [182828174, 182828252], [182829127, 182829319], [182835578, 182835720], [182836095, 182836178], [182841471, 182841628], [182843988, 182844089], [182845184, 182845398], [182845581, 182845676], [182845964, 182846038], [182847155, 182847308], [182848384, 182848545], [182849631, 182849743], [182850398, 182850560], [182850654, 182850782], [182852273, 182852503], [182852654, 182852770], [182853747, 182853948], [182856217, 182856569]]
NR_033302 [[182808438, 182808591], [182811679, 182811812], [182812428, 182812569], [182821367, 182821479], [182822440, 182822553], [182823164, 182823313], [182824711, 182824848], [182825666, 182825713], [182827238, 182827375], [182827685, 182827775], [182827867, 182828029], [182828174, 182828252], [182829127, 182829319], [182835578, 182835720], [182836095, 182836178], [182841471, 182841628], [182843988, 182844089], [182845184, 182845398], [182845581, 182845676], [182845964, 182846038], [182847155, 182847308], [182848384, 182848545], [182849631, 182849743], [182850398, 182850560], [182850654, 182850782], [182852273, 182852503], [182852654, 182852770], [182853747, 182853948], [182856217, 182857117]] None
Promoter
Chrom Start End Description
chr1 182808445 182808456 CAGE_peak_2_at_DHX9_5end
chr1 182808474 182808498 CAGE_peak_1_at_DHX9_5end
chr1 182808787 182808839 CAGE_peak_3_at_DHX9_5end
chr1 182808840 182808883 CAGE_peak_4_at_DHX9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I183469 183469707 183473909 2.37 [{'connected_gene': 'SMG7', 'score': 580.95}, {'connected_gene': 'SMG7-AS1', 'score': 567.89}, {'connected_gene': 'DHX9', 'score': 178.51}, {'connected_gene': 'LAMC1-AS1', 'score': 75.11}, {'connected_gene': 'HMGN1P4', 'score': 47.24}, {'connected_gene': 'ENSG00000271387', 'score': 20.32}, {'connected_gene': 'LAMC1', 'score': 18.5}, {'connected_gene': 'RNASEL', 'score': 10.4}, {'connected_gene': 'LAMC2', 'score': 10.22}, {'connected_gene': 'NCF2', 'score': 5.31}, {'connected_gene': 'LOC105371646', 'score': 0.28}]
chr1 GH01I182789 182789000 182790401 2.03 [{'connected_gene': 'NPL', 'score': 550.77}, {'connected_gene': 'DHX9', 'score': 11.05}, {'connected_gene': 'SMG7-AS1', 'score': 9.87}, {'connected_gene': 'KRT18P28', 'score': 4.74}, {'connected_gene': 'LAMC1-AS1', 'score': 4.33}, {'connected_gene': 'GC01P182831', 'score': 0.26}]
chr1 GH01I183804 183804228 183809200 2.51 [{'connected_gene': 'RGL1', 'score': 550.09}, {'connected_gene': 'DHX9', 'score': 11.58}, {'connected_gene': 'ENSG00000227554', 'score': 11.21}, {'connected_gene': 'SMG7', 'score': 10.42}, {'connected_gene': 'NCF2', 'score': 7.18}, {'connected_gene': 'ARPC5', 'score': 2.96}, {'connected_gene': 'GC01M183931', 'score': 0.13}]
chr1 GH01I182587 182587661 182589896 2.15 [{'connected_gene': 'RNASEL', 'score': 578.36}, {'connected_gene': 'DHX9', 'score': 24.29}, {'connected_gene': 'NPL', 'score': 11.28}, {'connected_gene': 'GC01M182527', 'score': 0.44}, {'connected_gene': 'ENSG00000276839', 'score': 0.39}]
chr1 GH01I182600 182600966 182604995 2.43 [{'connected_gene': 'RGS16', 'score': 550.77}, {'connected_gene': 'DHX9', 'score': 33.72}, {'connected_gene': 'RNASEL', 'score': 23.09}, {'connected_gene': 'LAMC1-AS1', 'score': 21.83}, {'connected_gene': 'HMGN1P4', 'score': 14.69}, {'connected_gene': 'LAMC1', 'score': 11.35}, {'connected_gene': 'LAMC2', 'score': 10.19}, {'connected_gene': 'GC01M182527', 'score': 0.44}]
chr1 GH01I183592 183592292 183594196 1.21 [{'connected_gene': 'NCF2', 'score': 43.55}, {'connected_gene': 'DHX9', 'score': 13.31}, {'connected_gene': 'LAMC1', 'score': 12.39}, {'connected_gene': 'SMG7', 'score': 12.0}, {'connected_gene': 'APOBEC4', 'score': 10.49}, {'connected_gene': 'HMGN1P4', 'score': 9.65}, {'connected_gene': 'ARPC5', 'score': 5.9}, {'connected_gene': 'SMG7-AS1', 'score': 4.41}, {'connected_gene': 'GC01M183620', 'score': 0.31}]
chr1 GH01I183184 183184416 183189818 2 [{'connected_gene': 'LAMC2', 'score': 601.28}, {'connected_gene': 'DHX9', 'score': 23.3}, {'connected_gene': 'HMGN1P4', 'score': 10.67}, {'connected_gene': 'LAMC1-AS1', 'score': 10.45}, {'connected_gene': 'LAMC1', 'score': 7.44}, {'connected_gene': 'RPS3AP8', 'score': 0.18}]
chr1 GH01I183233 183233935 183237059 1.17 [{'connected_gene': 'LAMC2', 'score': 18.14}, {'connected_gene': 'HMGN1P4', 'score': 13.32}, {'connected_gene': 'DHX9', 'score': 11.53}, {'connected_gene': 'SHCBP1L', 'score': 10.67}, {'connected_gene': 'LOC100271717', 'score': 10.67}, {'connected_gene': 'SMG7', 'score': 10.03}, {'connected_gene': 'RNU6-41P', 'score': 9.92}, {'connected_gene': 'RPS3AP8', 'score': 0.29}]
chr1 GH01I183021 183021181 183028216 2.29 [{'connected_gene': 'LAMC1', 'score': 565.8}, {'connected_gene': 'LAMC1-AS1', 'score': 40.8}, {'connected_gene': 'DHX9', 'score': 19.11}, {'connected_gene': 'HMGN1P4', 'score': 14.82}, {'connected_gene': 'SMG7', 'score': 11.92}, {'connected_gene': 'RNU6-41P', 'score': 10.25}]
chr1 GH01I182617 182617588 182618799 1.15 [{'connected_gene': 'SMG7-AS1', 'score': 11.35}, {'connected_gene': 'DHX9', 'score': 10.61}, {'connected_gene': 'LINC01686', 'score': 0.77}, {'connected_gene': 'GC01P182625', 'score': 0.44}]
chr1 GH01I182613 182613949 182617314 1.75 [{'connected_gene': 'LINC01686', 'score': 550.77}, {'connected_gene': 'HMGN1P4', 'score': 14.69}, {'connected_gene': 'DHX9', 'score': 14.13}, {'connected_gene': 'LAMC1-AS1', 'score': 12.72}, {'connected_gene': 'SMG7-AS1', 'score': 11.27}, {'connected_gene': 'RGS16', 'score': 7.01}, {'connected_gene': 'GC01P182625', 'score': 0.39}]
chr1 GH01I182388 182388321 182393358 2.28 [{'connected_gene': 'GLUL', 'score': 556.48}, {'connected_gene': 'DHX9', 'score': 57.9}, {'connected_gene': 'HMGN1P4', 'score': 36.02}, {'connected_gene': 'LAMC1-AS1', 'score': 22.64}, {'connected_gene': 'RNASEL', 'score': 19.55}, {'connected_gene': 'LAMC2', 'score': 10.18}, {'connected_gene': 'TEDDM1', 'score': 5.54}, {'connected_gene': 'EIF1P3', 'score': 0.23}]
chr1 GH01I182781 182781594 182782379 0.88 [{'connected_gene': 'DHX9', 'score': 11.02}, {'connected_gene': 'NPL', 'score': 0.44}, {'connected_gene': 'RGS8', 'score': 0.31}]
chr1 GH01I182782 182782386 182782595 0.85 [{'connected_gene': 'DHX9', 'score': 11.02}, {'connected_gene': 'NPL', 'score': 0.44}, {'connected_gene': 'RGS8', 'score': 0.31}]
chr1 GH01I182838 182838607 182842092 2.09 [{'connected_gene': 'DHX9', 'score': 589.46}, {'connected_gene': 'LOC647070', 'score': 550.77}, {'connected_gene': 'HMGN1P4', 'score': 11.51}, {'connected_gene': 'RNASEL', 'score': 10.86}, {'connected_gene': 'GC01P182890', 'score': 0.25}, {'connected_gene': 'GC01M182794', 'score': 0.21}]
chr1 GH01I183217 183217532 183220521 1.15 [{'connected_gene': 'DHX9', 'score': 36.46}, {'connected_gene': 'LAMC2', 'score': 19.98}, {'connected_gene': 'LAMC1-AS1', 'score': 12.63}, {'connected_gene': 'HMGN1P4', 'score': 11.12}, {'connected_gene': 'RNU6-41P', 'score': 10.47}, {'connected_gene': 'RPS3AP8', 'score': 0.25}]
chr1 GH01I182288 182288307 182293560 1.63 [{'connected_gene': 'DHX9', 'score': 13.32}, {'connected_gene': 'LAMC1', 'score': 12.39}, {'connected_gene': 'RPL18P2', 'score': 11.36}, {'connected_gene': 'RNU6-152P', 'score': 11.36}, {'connected_gene': 'GLUL', 'score': 11.16}, {'connected_gene': 'HMGN1P4', 'score': 9.65}, {'connected_gene': 'LINC01344', 'score': 0.34}, {'connected_gene': 'YPEL5P1', 'score': 0.14}]
chr1 GH01I182793 182793856 182796348 1.38 [{'connected_gene': 'DHX9', 'score': 10.81}, {'connected_gene': 'GLUL', 'score': 7.53}, {'connected_gene': 'KRT18P28', 'score': 6.5}, {'connected_gene': 'RNASEL', 'score': 6.09}, {'connected_gene': 'NPL', 'score': 6.05}, {'connected_gene': 'GC01P182831', 'score': 0.28}, {'connected_gene': 'GC01M182794', 'score': 0.14}]
chr1 GH01I182339 182339065 182341379 0.95 [{'connected_gene': 'DHX9', 'score': 14.35}, {'connected_gene': 'GLUL', 'score': 11.08}, {'connected_gene': 'TEDDM1', 'score': 4.75}, {'connected_gene': 'EIF1P3', 'score': 0.77}]
chr1 GH01I182257 182257602 182260883 1.65 [{'connected_gene': 'DHX9', 'score': 14.09}, {'connected_gene': 'GLUL', 'score': 12.92}, {'connected_gene': 'LAMC1-AS1', 'score': 12.71}, {'connected_gene': 'TEDDM1', 'score': 11.24}, {'connected_gene': 'RPL18P2', 'score': 10.84}, {'connected_gene': 'RNU6-152P', 'score': 10.84}, {'connected_gene': 'RNASEL', 'score': 2.05}, {'connected_gene': 'LINC01344', 'score': 0.23}, {'connected_gene': 'YPEL5P1', 'score': 0.18}]
chr1 GH01I183345 183345948 183347268 0.76 [{'connected_gene': 'DHX9', 'score': 12.58}, {'connected_gene': 'NMNAT2', 'score': 7.88}, {'connected_gene': 'NCF2', 'score': 4.97}, {'connected_gene': 'RPS3AP8', 'score': 0.18}]
chr1 GH01I182910 182910286 182910435 0.49 [{'connected_gene': 'DHX9', 'score': 13.29}, {'connected_gene': 'LAMC1-AS1', 'score': 10.12}, {'connected_gene': 'GC01M182794', 'score': 0.44}, {'connected_gene': 'GC01M182942', 'score': 0.29}, {'connected_gene': 'SHCBP1L', 'score': 0.26}]
chr1 GH01I183043 183043130 183045926 1.23 [{'connected_gene': 'DHX9', 'score': 56.95}, {'connected_gene': 'LAMC1-AS1', 'score': 32.06}, {'connected_gene': 'LAMC1', 'score': 15.52}, {'connected_gene': 'RGL1', 'score': 12.13}]
chr1 GH01I182235 182235601 182236601 1.17 [{'connected_gene': 'DHX9', 'score': 21.18}, {'connected_gene': 'LAMC1-AS1', 'score': 18.59}, {'connected_gene': 'YPEL5P1', 'score': 0.23}, {'connected_gene': 'LINC01344', 'score': 0.18}]
chr1 GH01I183270 183270168 183274324 1.44 [{'connected_gene': 'DHX9', 'score': 13.24}, {'connected_gene': 'RNU6-41P', 'score': 10.14}, {'connected_gene': 'LAMC2', 'score': 6.52}, {'connected_gene': 'LAMC1', 'score': 2.11}, {'connected_gene': 'RPS3AP8', 'score': 0.44}, {'connected_gene': 'NMNAT2', 'score': 0.11}]
chr1 GH01I183784 183784179 183784964 0.66 [{'connected_gene': 'DHX9', 'score': 22.62}, {'connected_gene': 'ARPC5', 'score': 17.8}, {'connected_gene': 'ENSG00000271387', 'score': 10.71}, {'connected_gene': 'ENSG00000227554', 'score': 0.31}, {'connected_gene': 'RGL1', 'score': 0.11}, {'connected_gene': 'GC01M183931', 'score': 0.11}]
chr1 GH01I183302 183302649 183303062 0.63 [{'connected_gene': 'DHX9', 'score': 14.44}, {'connected_gene': 'RPS3AP8', 'score': 0.28}, {'connected_gene': 'NMNAT2', 'score': 0.13}]
chr1 GH01I182396 182396601 182397877 1.29 [{'connected_gene': 'DHX9', 'score': 12.23}, {'connected_gene': 'RPL18P2', 'score': 10.32}, {'connected_gene': 'RNU6-152P', 'score': 10.31}, {'connected_gene': 'GLUL', 'score': 4.67}, {'connected_gene': 'TEDDM1', 'score': 0.77}]
chr1 GH01I182299 182299149 182302834 1.7 [{'connected_gene': 'DHX9', 'score': 40.03}, {'connected_gene': 'HMGN1P4', 'score': 19.14}, {'connected_gene': 'LAMC1', 'score': 12.39}, {'connected_gene': 'GLUL', 'score': 11.85}, {'connected_gene': 'RPL18P2', 'score': 11.83}, {'connected_gene': 'RNU6-152P', 'score': 11.83}, {'connected_gene': 'EIF1P3', 'score': 10.9}, {'connected_gene': 'LINC01344', 'score': 0.39}, {'connected_gene': 'YPEL5P1', 'score': 0.13}]
chr1 GH01I183058 183058439 183061633 1.39 [{'connected_gene': 'LAMC1-AS1', 'score': 21.53}, {'connected_gene': 'LAMC1', 'score': 15.23}, {'connected_gene': 'DHX9', 'score': 11.52}, {'connected_gene': 'HMGN1P4', 'score': 10.73}, {'connected_gene': 'RNU6-41P', 'score': 10.11}]
chr1 GH01I183288 183288682 183290043 0.38 [{'connected_gene': 'LAMC1-AS1', 'score': 10.31}, {'connected_gene': 'DHX9', 'score': 9.83}, {'connected_gene': 'LAMC2', 'score': 7.18}, {'connected_gene': 'RPS3AP8', 'score': 0.34}, {'connected_gene': 'NMNAT2', 'score': 0.13}]
chr1 GH01I183018 183018966 183020386 0.88 [{'connected_gene': 'LAMC1-AS1', 'score': 21.24}, {'connected_gene': 'DHX9', 'score': 16.86}, {'connected_gene': 'LAMC1', 'score': 5.02}, {'connected_gene': 'GC01M182983', 'score': 0.28}, {'connected_gene': 'RNU6-41P', 'score': 0.28}]
chr1 GH01I182968 182968279 182970348 0.6 [{'connected_gene': 'LAMC1-AS1', 'score': 16.89}, {'connected_gene': 'DHX9', 'score': 11.05}, {'connected_gene': 'KRT18P28', 'score': 0.44}, {'connected_gene': 'GC01M182983', 'score': 0.39}, {'connected_gene': 'RNU6-41P', 'score': 0.39}]
chr1 GH01I183031 183031932 183033025 1.11 [{'connected_gene': 'LAMC1-AS1', 'score': 21.33}, {'connected_gene': 'DHX9', 'score': 16.86}, {'connected_gene': 'RNU6-41P', 'score': 10.22}, {'connected_gene': 'LAMC1', 'score': 0.44}]
chr1 GH01I183062 183062636 183064588 0.38 [{'connected_gene': 'LAMC1-AS1', 'score': 21.74}, {'connected_gene': 'DHX9', 'score': 15.66}, {'connected_gene': 'HMGN1P4', 'score': 11.19}, {'connected_gene': 'RNU6-41P', 'score': 10.07}, {'connected_gene': 'LAMC1', 'score': 0.26}]
chr1 GH01I182713 182713787 182713873 0.44 [{'connected_gene': 'LINC01688', 'score': 550.77}, {'connected_gene': 'RGS8', 'score': 11.36}, {'connected_gene': 'RGS16', 'score': 10.93}, {'connected_gene': 'DHX9', 'score': 1.39}, {'connected_gene': 'LOC100421471', 'score': 0.37}]
chr1 GH01I183632 183632400 183637002 2.3 [{'connected_gene': 'ARPC5', 'score': 569.82}, {'connected_gene': 'GC01M183630', 'score': 550.77}, {'connected_gene': 'RGL1', 'score': 550.77}, {'connected_gene': 'NCF2', 'score': 25.75}, {'connected_gene': 'DHX9', 'score': 11.27}]
chr1 GH01I182084 182084201 182085813 1.2 [{'connected_gene': 'ENSG00000225982', 'score': 550.77}, {'connected_gene': 'DHX9', 'score': 14.35}, {'connected_gene': 'HMGN1P4', 'score': 13.64}, {'connected_gene': 'TEDDM1', 'score': 11.48}, {'connected_gene': 'GLUL', 'score': 10.93}, {'connected_gene': 'RNASEL', 'score': 10.41}, {'connected_gene': 'RGSL1', 'score': 9.85}, {'connected_gene': 'NPL', 'score': 9.35}, {'connected_gene': 'ENSG00000224810', 'score': 0.37}]

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