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
ENST00000338338 [[1309109, 1309282], [1309379, 1309825], [1310084, 1310170], [1310533, 1310875]] [[1309180, 1309282], [1309379, 1309825], [1310084, 1310136]]
ENST00000338370 [[1309109, 1309282], [1309379, 1309825], [1310084, 1310537]] [[1309180, 1309282], [1309379, 1309825], [1310084, 1310136]]
ENST00000321751 [[1309111, 1309282], [1309379, 1309825], [1310084, 1310170], [1310454, 1310549]] [[1309180, 1309282], [1309379, 1309825], [1310084, 1310136]]
ENST00000378853 [[1309116, 1309282], [1309379, 1309825], [1310084, 1310170], [1310376, 1310553]] [[1309180, 1309282], [1309379, 1309825], [1310084, 1310136]]
ENST00000489799 [[1309623, 1310170], [1310376, 1310524]] None
ENST00000496905 [[1309817, 1309970], [1310084, 1310539]] None
NM_017900 [[1309109, 1309282], [1309379, 1309825], [1310084, 1310170], [1310533, 1310818]] [[1309180, 1309282], [1309379, 1309825], [1310084, 1310136]]
NM_001127229 [[1309109, 1309282], [1309379, 1309825], [1310084, 1310170], [1310376, 1310580]] [[1309180, 1309282], [1309379, 1309825], [1310084, 1310136]]
NM_001127230 [[1309110, 1309282], [1309379, 1309825], [1310084, 1310170], [1310454, 1310562]] [[1309180, 1309282], [1309379, 1309825], [1310084, 1310136]]
Promoter
Chrom Start End Description
chr1 1310530 1310603 CAGE_peak_1_at_AURKAIP1_5end
chr1 1310644 1310651 CAGE_peak_4_at_AURKAIP1_5end
chr1 1310666 1310682 CAGE_peak_3_at_AURKAIP1_5end
chr1 1310714 1310723 CAGE_peak_5_at_AURKAIP1_5end
chr1 1310870 1310920 CAGE_peak_2_at_AURKAIP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I001204 1204874 1209658 2.19 [{'connected_gene': 'TNFRSF18', 'score': 558.25}, {'connected_gene': 'CCNL2', 'score': 17.46}, {'connected_gene': 'ENSG00000240731', 'score': 15.68}, {'connected_gene': 'LOC100288379', 'score': 15.58}, {'connected_gene': 'MXRA8', 'score': 13.84}, {'connected_gene': 'SLC35E2', 'score': 11.83}, {'connected_gene': 'ANKRD65', 'score': 11.72}, {'connected_gene': 'ENSG00000230092', 'score': 10.61}, {'connected_gene': 'VWA1', 'score': 10.29}, {'connected_gene': 'LOC100129381', 'score': 10.28}, {'connected_gene': 'LINC01770', 'score': 10.26}, {'connected_gene': 'INTS11', 'score': 10.18}, {'connected_gene': 'FAM87B', 'score': 9.81}, {'connected_gene': 'B3GALT6', 'score': 9.43}, {'connected_gene': 'SDF4', 'score': 7.5}, {'connected_gene': 'TNFRSF4', 'score': 7.15}, {'connected_gene': 'AURKAIP1', 'score': 5.88}, {'connected_gene': 'MIB2', 'score': 1.26}, {'connected_gene': 'GC01M001138', 'score': 0.23}]
chr1 GH01I001397 1397376 1402851 2.12 [{'connected_gene': 'CCNL2', 'score': 609.67}, {'connected_gene': 'LOC148413', 'score': 550.77}, {'connected_gene': 'INTS11', 'score': 57.65}, {'connected_gene': 'ATAD3B', 'score': 51.65}, {'connected_gene': 'ENSG00000240731', 'score': 49.74}, {'connected_gene': 'LOC100288379', 'score': 49.23}, {'connected_gene': 'ENSG00000230092', 'score': 47.66}, {'connected_gene': 'CDK11A', 'score': 37.58}, {'connected_gene': 'SLC35E2', 'score': 30.94}, {'connected_gene': 'LOC100129381', 'score': 29.01}, {'connected_gene': 'SLC35E2B', 'score': 27.31}, {'connected_gene': 'NOC2L', 'score': 26.71}, {'connected_gene': 'CDK11B', 'score': 24.42}, {'connected_gene': 'LINC00115', 'score': 23.49}, {'connected_gene': 'ANKRD65', 'score': 22.88}, {'connected_gene': 'ENSG00000237094', 'score': 21.8}, {'connected_gene': 'LOC100288069', 'score': 20.33}, {'connected_gene': 'UBE2J2', 'score': 19.38}, {'connected_gene': 'FAAP20', 'score': 18.85}, {'connected_gene': 'RER1', 'score': 13.76}, {'connected_gene': 'CICP3', 'score': 12.47}, {'connected_gene': 'ATAD3C', 'score': 12.28}, {'connected_gene': 'SDF4', 'score': 12.18}, {'connected_gene': 'MXRA8', 'score': 10.68}, {'connected_gene': 'ENSG00000272455', 'score': 10.66}, {'connected_gene': 'PUSL1', 'score': 10.37}, {'connected_gene': 'FAM87B', 'score': 10.19}, {'connected_gene': 'MRPL20', 'score': 10.16}, {'connected_gene': 'SSU72', 'score': 5.67}, {'connected_gene': 'AURKAIP1', 'score': 4.89}, {'connected_gene': 'RN7SL657P', 'score': 0.44}, {'connected_gene': 'GC01M001386', 'score': 0.39}]
chr1 GH01I001210 1210039 1217195 1.7 [{'connected_gene': 'TNFRSF4', 'score': 550.77}, {'connected_gene': 'B3GALT6', 'score': 16.22}, {'connected_gene': 'TTLL10-AS1', 'score': 12.91}, {'connected_gene': 'TTLL10', 'score': 12.89}, {'connected_gene': 'LINC01786', 'score': 12.51}, {'connected_gene': 'UBE2J2', 'score': 12.51}, {'connected_gene': 'ATAD3B', 'score': 10.28}, {'connected_gene': 'ANKRD65', 'score': 7.94}, {'connected_gene': 'SDF4', 'score': 7.54}, {'connected_gene': 'AURKAIP1', 'score': 4.91}, {'connected_gene': 'TNFRSF18', 'score': 0.44}, {'connected_gene': 'GC01M001138', 'score': 0.25}]
chr1 GH01I002309 2309444 2319866 1.6 [{'connected_gene': 'SKI', 'score': 13.69}, {'connected_gene': 'RER1', 'score': 11.77}, {'connected_gene': 'MORN1', 'score': 11.77}, {'connected_gene': 'ANKRD65', 'score': 5.62}, {'connected_gene': 'AURKAIP1', 'score': 4.73}, {'connected_gene': 'GC01M002322', 'score': 0.44}, {'connected_gene': 'PIR31073', 'score': 0.44}]
chr11 GH11I067560 67560925 67564843 1.34 [{'connected_gene': 'PTPRCAP', 'score': 24.9}, {'connected_gene': 'AIP', 'score': 17.07}, {'connected_gene': 'KMT5B', 'score': 16.02}, {'connected_gene': 'NDUFV1', 'score': 15.88}, {'connected_gene': 'ENSG00000258297', 'score': 14.98}, {'connected_gene': 'PPP6R3', 'score': 14.64}, {'connected_gene': 'RBM14', 'score': 13.24}, {'connected_gene': 'CABP2', 'score': 11.76}, {'connected_gene': 'C11orf72', 'score': 11.73}, {'connected_gene': 'ENSG00000255119', 'score': 11.73}, {'connected_gene': 'DOC2GP', 'score': 11.7}, {'connected_gene': 'NUDT8', 'score': 11.32}, {'connected_gene': 'TBX10', 'score': 11.3}, {'connected_gene': 'ACY3', 'score': 11.11}, {'connected_gene': 'ENSG00000227834', 'score': 11.1}, {'connected_gene': 'RBM4', 'score': 9.95}, {'connected_gene': 'ALDH3B2', 'score': 6.11}, {'connected_gene': 'CDK2AP2', 'score': 4.69}, {'connected_gene': 'GC11M067541', 'score': 0.34}, {'connected_gene': 'GSTP1', 'score': 0.34}]
chr1 GH01I001373 1373155 1377091 2.14 [{'connected_gene': 'AURKAIP1', 'score': 561.67}, {'connected_gene': 'GC01M001374', 'score': 550.77}, {'connected_gene': 'CDK11A', 'score': 59.91}, {'connected_gene': 'ENSG00000230092', 'score': 55.98}, {'connected_gene': 'ATAD3B', 'score': 45.36}, {'connected_gene': 'LOC100288379', 'score': 45.05}, {'connected_gene': 'ENSG00000237094', 'score': 33.48}, {'connected_gene': 'LINC01786', 'score': 31.49}, {'connected_gene': 'LOC100288069', 'score': 29.51}, {'connected_gene': 'CCNL2', 'score': 29.15}, {'connected_gene': 'UBE2J2', 'score': 24.65}, {'connected_gene': 'C1orf159', 'score': 24.23}, {'connected_gene': 'SDF4', 'score': 23.29}, {'connected_gene': 'INTS11', 'score': 22.8}, {'connected_gene': 'ANKRD65', 'score': 22.6}, {'connected_gene': 'SLC35E2', 'score': 22.37}, {'connected_gene': 'TMEM240', 'score': 22.22}, {'connected_gene': 'LOC100129381', 'score': 22.12}, {'connected_gene': 'ENSG00000240731', 'score': 20.03}, {'connected_gene': 'FAM87B', 'score': 19.67}, {'connected_gene': 'SLC35E2B', 'score': 19.27}, {'connected_gene': 'MXRA8', 'score': 16.1}, {'connected_gene': 'ATAD3C', 'score': 11.69}, {'connected_gene': 'CDK11B', 'score': 11.55}, {'connected_gene': 'SCNN1D', 'score': 11.54}, {'connected_gene': 'LINC00115', 'score': 11.38}, {'connected_gene': 'ENSG00000272106', 'score': 11.09}, {'connected_gene': 'ENSG00000260179', 'score': 10.97}, {'connected_gene': 'MRPL20', 'score': 10.81}, {'connected_gene': 'FAAP20', 'score': 10.71}, {'connected_gene': 'PUSL1', 'score': 10.49}, {'connected_gene': 'ENSG00000272420', 'score': 10.42}, {'connected_gene': 'KLHL17', 'score': 10.37}, {'connected_gene': 'ACAP3', 'score': 10.16}, {'connected_gene': 'NOC2L', 'score': 10.1}, {'connected_gene': 'ENSG00000215014', 'score': 9.95}, {'connected_gene': 'ENSG00000234396', 'score': 9.74}, {'connected_gene': 'LOC100129534', 'score': 9.7}, {'connected_gene': 'TAS1R3', 'score': 6.76}, {'connected_gene': 'MTCO1P12', 'score': 5.52}]
chr11 GH11I067482 67482216 67488518 2.49 [{'connected_gene': 'AIP', 'score': 552.1}, {'connected_gene': 'GC11P067486', 'score': 550.77}, {'connected_gene': 'PTPRCAP', 'score': 54.41}, {'connected_gene': 'RBM4B', 'score': 13.67}, {'connected_gene': 'KMT5B', 'score': 13.52}, {'connected_gene': 'RBM14', 'score': 13.51}, {'connected_gene': 'BBS1', 'score': 13.28}, {'connected_gene': 'CARNS1', 'score': 11.23}, {'connected_gene': 'ENSG00000258297', 'score': 10.72}, {'connected_gene': 'RBM4', 'score': 9.68}, {'connected_gene': 'ALDH3B2', 'score': 7.13}, {'connected_gene': 'NUDT8', 'score': 2.1}]
chr11 GH11I067535 67535630 67535719 0.2 [{'connected_gene': 'AIP', 'score': 11.15}, {'connected_gene': 'ENSG00000283257', 'score': 0.77}, {'connected_gene': 'CABP2', 'score': 0.39}]
chr1 GH01I001370 1370969 1372830 1.23 [{'connected_gene': 'INTS11', 'score': 15.93}, {'connected_gene': 'CDK11A', 'score': 15.0}, {'connected_gene': 'CCNL2', 'score': 14.81}, {'connected_gene': 'LOC100288379', 'score': 14.6}, {'connected_gene': 'LINC00115', 'score': 13.92}, {'connected_gene': 'SDF4', 'score': 12.66}, {'connected_gene': 'ATAD3B', 'score': 12.47}, {'connected_gene': 'ENSG00000230092', 'score': 12.43}, {'connected_gene': 'LINC01786', 'score': 11.48}, {'connected_gene': 'UBE2J2', 'score': 11.48}, {'connected_gene': 'ENSG00000240731', 'score': 9.99}, {'connected_gene': 'ENSG00000237094', 'score': 9.96}, {'connected_gene': 'CICP3', 'score': 9.71}, {'connected_gene': 'AURKAIP1', 'score': 8.33}, {'connected_gene': 'TAS1R3', 'score': 6.75}, {'connected_gene': 'MRPL20', 'score': 6.43}, {'connected_gene': 'GC01M001374', 'score': 0.77}, {'connected_gene': 'MXRA8', 'score': 0.44}]
chr1 GH01I001356 1356135 1362606 2.51 [{'connected_gene': 'MXRA8', 'score': 553.54}, {'connected_gene': 'SLC35E2', 'score': 22.24}, {'connected_gene': 'LOC100129381', 'score': 21.23}, {'connected_gene': 'ANKRD65', 'score': 20.3}, {'connected_gene': 'CCNL2', 'score': 17.11}, {'connected_gene': 'LOC100288379', 'score': 14.71}, {'connected_gene': 'SDF4', 'score': 14.38}, {'connected_gene': 'ENSG00000272455', 'score': 14.1}, {'connected_gene': 'INTS11', 'score': 13.55}, {'connected_gene': 'ENSG00000240731', 'score': 12.9}, {'connected_gene': 'LINC00115', 'score': 12.84}, {'connected_gene': 'ATAD3B', 'score': 12.41}, {'connected_gene': 'CDK11A', 'score': 12.32}, {'connected_gene': 'FAM87B', 'score': 11.79}, {'connected_gene': 'ENSG00000230092', 'score': 11.46}, {'connected_gene': 'SLC35E2B', 'score': 10.29}, {'connected_gene': 'MRPL20', 'score': 7.84}, {'connected_gene': 'ATAD3C', 'score': 7.5}, {'connected_gene': 'AURKAIP1', 'score': 7.13}, {'connected_gene': 'TAS1R3', 'score': 6.78}, {'connected_gene': 'TMEM240', 'score': 2.71}, {'connected_gene': 'ACAP3', 'score': 2.0}, {'connected_gene': 'MIB2', 'score': 1.41}, {'connected_gene': 'GC01M001356', 'score': 0.77}]
chr11 GH11I067572 67572290 67573729 1.35 [{'connected_gene': 'NDUFV1', 'score': 16.2}, {'connected_gene': 'RBM14', 'score': 13.36}, {'connected_gene': 'RBM4B', 'score': 12.61}, {'connected_gene': 'C11orf72', 'score': 12.05}, {'connected_gene': 'ENSG00000255119', 'score': 12.05}, {'connected_gene': 'DOC2GP', 'score': 12.01}, {'connected_gene': 'NUDT8', 'score': 11.98}, {'connected_gene': 'TBX10', 'score': 11.97}, {'connected_gene': 'KDM2A', 'score': 11.67}, {'connected_gene': 'PPP6R3', 'score': 11.64}, {'connected_gene': 'AIP', 'score': 11.55}, {'connected_gene': 'ACY3', 'score': 11.13}, {'connected_gene': 'ENSG00000227834', 'score': 11.12}, {'connected_gene': 'RBM4', 'score': 10.24}, {'connected_gene': 'KMT5B', 'score': 10.06}, {'connected_gene': 'ALDH3B2', 'score': 6.12}, {'connected_gene': 'GSTP1', 'score': 0.39}, {'connected_gene': 'GC11M067541', 'score': 0.29}]
chr1 GH01I001019 1019001 1022441 2.49 [{'connected_gene': 'AGRN', 'score': 565.92}, {'connected_gene': 'ENSG00000272512', 'score': 20.53}, {'connected_gene': 'PLEKHN1', 'score': 5.59}, {'connected_gene': 'C1orf159', 'score': 2.37}, {'connected_gene': 'UBE2J2', 'score': 2.01}, {'connected_gene': 'DVL1', 'score': 1.99}, {'connected_gene': 'CPTP', 'score': 1.95}, {'connected_gene': 'ISG15', 'score': 1.8}, {'connected_gene': 'PUSL1', 'score': 1.69}, {'connected_gene': 'NOC2L', 'score': 1.67}, {'connected_gene': 'AURKAIP1', 'score': 1.58}, {'connected_gene': 'INTS11', 'score': 1.5}, {'connected_gene': 'ATAD3A', 'score': 1.34}, {'connected_gene': 'PIR57007', 'score': 0.34}]
chr11 GH11I067401 67400230 67412231 2.21 [{'connected_gene': 'TBC1D10C', 'score': 554.72}, {'connected_gene': 'PPP1CA', 'score': 550.39}, {'connected_gene': 'SSH3', 'score': 12.14}, {'connected_gene': 'PTPRCAP', 'score': 11.81}, {'connected_gene': 'CARNS1', 'score': 10.6}, {'connected_gene': 'RAD9A', 'score': 8.37}, {'connected_gene': 'AIP', 'score': 4.58}]
chr1 GH01I001235 1235587 1243534 1.61 [{'connected_gene': 'B3GALT6', 'score': 26.04}, {'connected_gene': 'ANKRD65', 'score': 11.65}, {'connected_gene': 'ATAD3B', 'score': 9.68}, {'connected_gene': 'SDF4', 'score': 8.97}, {'connected_gene': 'AURKAIP1', 'score': 5.44}, {'connected_gene': 'ENSG00000237094', 'score': 5.07}, {'connected_gene': 'CPTP', 'score': 5.04}, {'connected_gene': 'CDK11B', 'score': 4.48}, {'connected_gene': 'PLEKHN1', 'score': 3.09}, {'connected_gene': 'PIR44892', 'score': 0.77}, {'connected_gene': 'C1QTNF12', 'score': 0.44}, {'connected_gene': 'GC01M001138', 'score': 0.34}]
chr1 GH01I001219 1219494 1220409 0.63 [{'connected_gene': 'B3GALT6', 'score': 17.15}, {'connected_gene': 'TTLL10-AS1', 'score': 12.87}, {'connected_gene': 'TTLL10', 'score': 12.86}, {'connected_gene': 'LINC01786', 'score': 12.54}, {'connected_gene': 'UBE2J2', 'score': 12.54}, {'connected_gene': 'AURKAIP1', 'score': 5.04}, {'connected_gene': 'SLC35E2', 'score': 4.7}, {'connected_gene': 'TNFRSF4', 'score': 0.44}, {'connected_gene': 'SDF4', 'score': 0.39}, {'connected_gene': 'GC01M001138', 'score': 0.26}]
chr11 GH11I067488 67488968 67492884 0.54 [{'connected_gene': 'MIR6752', 'score': 550.77}, {'connected_gene': 'PTPRCAP', 'score': 28.4}, {'connected_gene': 'CARNS1', 'score': 11.23}, {'connected_gene': 'C11orf80', 'score': 5.3}, {'connected_gene': 'CDK2AP2', 'score': 4.81}, {'connected_gene': 'AIP', 'score': 0.44}, {'connected_gene': 'PITPNM1', 'score': 0.37}]
chr1 GH01I001196 1196868 1204856 1.67 [{'connected_gene': 'GC01P001200', 'score': 550.77}, {'connected_gene': 'ATAD3B', 'score': 25.57}, {'connected_gene': 'INTS11', 'score': 18.0}, {'connected_gene': 'SDF4', 'score': 17.08}, {'connected_gene': 'CCNL2', 'score': 15.75}, {'connected_gene': 'NOC2L', 'score': 15.32}, {'connected_gene': 'ENSG00000230092', 'score': 14.99}, {'connected_gene': 'ENSG00000240731', 'score': 14.37}, {'connected_gene': 'CDK11A', 'score': 13.63}, {'connected_gene': 'LOC100288379', 'score': 13.21}, {'connected_gene': 'UBE2J2', 'score': 11.61}, {'connected_gene': 'SLC35E2', 'score': 11.58}, {'connected_gene': 'CICP3', 'score': 11.48}, {'connected_gene': 'ATAD3A', 'score': 11.28}, {'connected_gene': 'LOC100129381', 'score': 11.19}, {'connected_gene': 'LINC00115', 'score': 10.75}, {'connected_gene': 'PUSL1', 'score': 10.63}, {'connected_gene': 'CDK11B', 'score': 10.17}, {'connected_gene': 'LOC105378580', 'score': 9.77}, {'connected_gene': 'ENSG00000237094', 'score': 9.69}, {'connected_gene': 'ANKRD65', 'score': 9.32}, {'connected_gene': 'TNFRSF18', 'score': 8.81}, {'connected_gene': 'SCNN1D', 'score': 7.4}, {'connected_gene': 'B3GALT6', 'score': 7.19}, {'connected_gene': 'AURKAIP1', 'score': 4.96}, {'connected_gene': 'HES4', 'score': 2.44}, {'connected_gene': 'ISG15', 'score': 2.33}, {'connected_gene': 'MIB2', 'score': 1.13}, {'connected_gene': 'GC01M001197', 'score': 0.77}, {'connected_gene': 'GC01M001193', 'score': 0.77}, {'connected_gene': 'TTLL10', 'score': 0.31}, {'connected_gene': 'GC01M001138', 'score': 0.21}]

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