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
ENST00000426248 [[159313475, 159313730], [159389691, 159389828], [159433782, 159433895], [159459581, 159459616], [159477501, 159477633], [159477742, 159477933], [159481466, 159481939], [159488264, 159488453], [159490584, 159490801], [159497138, 159497271], [159498997, 159499211], [159514642, 159514826], [159517844, 159517962], [159519408, 159519600], [159519783, 159519957], [159522924, 159523075], [159526231, 159526427], [159530188, 159530273], [159530394, 159530512], [159533250, 159533379], [159535092, 159535166], [159536940, 159537564]] [[159389696, 159389828], [159433782, 159433895], [159459581, 159459616], [159477501, 159477633], [159477742, 159477933], [159481466, 159481514]]
ENST00000389757 [[159313610, 159313730], [159389691, 159389828], [159433782, 159433895], [159459581, 159459616], [159477501, 159477633], [159477742, 159477933], [159481389, 159481939], [159488264, 159488453], [159490581, 159490801], [159497138, 159497271], [159498997, 159499211], [159514642, 159514826], [159517844, 159517962], [159519408, 159519600], [159519783, 159519957], [159522924, 159523075], [159526231, 159526427], [159530188, 159530273], [159530394, 159530512], [159535092, 159535166], [159536940, 159539391]] [[159389696, 159389828], [159433782, 159433895], [159459581, 159459616], [159477501, 159477633], [159477742, 159477933], [159481389, 159481939], [159488264, 159488453], [159490581, 159490801], [159497138, 159497271], [159498997, 159499211], [159514642, 159514826], [159517844, 159517962], [159519408, 159519600], [159519783, 159519957], [159522924, 159523075], [159526231, 159526427], [159530188, 159530273], [159530394, 159530512], [159535092, 159535166], [159536940, 159537189]]
ENST00000389759 [[159313623, 159313730], [159389691, 159389828], [159433782, 159433895], [159459581, 159459616], [159477501, 159477633], [159477742, 159477933], [159481389, 159481939], [159488264, 159488453], [159490581, 159490801], [159497138, 159497271], [159498997, 159499211], [159514642, 159514826], [159517844, 159517962], [159519408, 159519600], [159519783, 159519957], [159522924, 159523075], [159526231, 159526427], [159530188, 159530273], [159530394, 159530512], [159533250, 159533379], [159535092, 159535166], [159536940, 159537941]] [[159389696, 159389828], [159433782, 159433895], [159459581, 159459616], [159477501, 159477633], [159477742, 159477933], [159481389, 159481939], [159488264, 159488453], [159490581, 159490801], [159497138, 159497271], [159498997, 159499211], [159514642, 159514826], [159517844, 159517962], [159519408, 159519600], [159519783, 159519957], [159522924, 159523075], [159526231, 159526427], [159530188, 159530273], [159530394, 159530512], [159533250, 159533379], [159535092, 159535166], [159536940, 159537189]]
ENST00000457109 [[159313625, 159313730], [159389691, 159389828], [159389949, 159390046], [159433782, 159433895], [159459581, 159459616], [159477501, 159477534]] [[159389696, 159389828], [159389949, 159389979]]
ENST00000452162 [[159313644, 159313730], [159389691, 159389828], [159459581, 159459616], [159477501, 159477633], [159477742, 159477933], [159481389, 159481939], [159488264, 159488453], [159490581, 159490801], [159497138, 159497271], [159498997, 159499211], [159514642, 159514826], [159517844, 159517962], [159519408, 159519578]] [[159389696, 159389828], [159459581, 159459590]]
ENST00000411900 [[159313647, 159313730], [159389691, 159389828], [159433782, 159433895], [159434680, 159434775], [159444736, 159444797], [159445399, 159445462]] [[159389696, 159389828], [159433782, 159433895], [159434680, 159434723]]
ENST00000421462 [[159313966, 159314819], [159389691, 159389828], [159433782, 159433895], [159459581, 159459616], [159477501, 159477633], [159477742, 159477933], [159481466, 159481939], [159488264, 159488453], [159490581, 159490801], [159497138, 159497271], [159498997, 159499211], [159514642, 159514826], [159517844, 159517962], [159519408, 159519515]] [[159389696, 159389828], [159433782, 159433895], [159459581, 159459616], [159477501, 159477633], [159477742, 159477933], [159481466, 159481514]]
ENST00000462335 [[159314704, 159314819], [159433782, 159433895], [159459581, 159459616], [159477501, 159477633], [159477742, 159477908]] None
ENST00000492496 [[159499031, 159499211], [159514642, 159514826], [159517844, 159518276]] None
ENST00000479398 [[159313644, 159313730], [159314379, 159314843]] None
ENST00000481115 [[159433852, 159433895], [159459581, 159459616], [159477501, 159477633], [159477742, 159477933], [159481636, 159481939], [159488264, 159488444]] [[159433852, 159433895], [159459581, 159459616], [159477501, 159477633], [159477742, 159477933], [159481636, 159481735]]
ENST00000494945 [[159488985, 159489154], [159490581, 159490801], [159497138, 159497271]] None
ENST00000480171 [[159518753, 159519600], [159519783, 159519957], [159522924, 159523075], [159526231, 159526427], [159530188, 159530273], [159530394, 159530512], [159533250, 159533379], [159535092, 159535166], [159536940, 159537938]] None
ENST00000495123 [[159519501, 159519600], [159519783, 159519957], [159522924, 159523075], [159525662, 159525818]] None
ENST00000483881 [[159519569, 159519600], [159519783, 159519957], [159522924, 159523171]] None
ENST00000486254 [[159525681, 159526427], [159530188, 159530273], [159530394, 159530512], [159533250, 159533867]] None
NM_001304971 [[159313391, 159313730], [159389691, 159389828], [159433782, 159433895], [159459581, 159459616], [159477501, 159477633], [159477742, 159477933], [159481389, 159481939], [159488264, 159488453], [159490581, 159490801], [159497138, 159497271], [159498997, 159499211], [159514642, 159514826], [159517844, 159517962], [159519408, 159519600], [159519783, 159519957], [159522924, 159523172]] [[159389696, 159389828], [159433782, 159433895], [159459581, 159459616], [159477501, 159477633], [159477742, 159477933], [159481389, 159481939], [159488264, 159488453], [159490581, 159490801], [159497138, 159497271], [159498997, 159499211], [159514642, 159514826], [159517844, 159517962], [159519408, 159519600], [159519783, 159519957], [159522924, 159523089]]
NM_001304970 [[159313391, 159313730], [159389691, 159389828], [159433782, 159433895], [159459581, 159459616], [159477501, 159477633], [159477742, 159477933], [159481466, 159481939], [159488264, 159488453], [159490584, 159490801], [159497138, 159497271], [159498997, 159499211], [159514642, 159514826], [159517844, 159517962], [159519408, 159519600], [159519783, 159519957], [159522924, 159523075], [159526231, 159526427], [159530188, 159530273], [159530394, 159530512], [159533250, 159533379], [159535092, 159535166], [159536940, 159537941]] [[159481812, 159481939], [159488264, 159488453], [159490584, 159490801], [159497138, 159497271], [159498997, 159499211], [159514642, 159514826], [159517844, 159517962], [159519408, 159519600], [159519783, 159519957], [159522924, 159523075], [159526231, 159526427], [159530188, 159530273], [159530394, 159530512], [159533250, 159533379], [159535092, 159535166], [159536940, 159537189]]
NM_001304969 [[159313391, 159313730], [159389691, 159389828], [159433782, 159433895], [159459581, 159459616], [159477501, 159477633], [159477742, 159477933], [159481389, 159481939], [159488264, 159488453], [159490584, 159490801], [159497138, 159497271], [159498997, 159499211], [159514642, 159514826], [159517844, 159517962], [159519408, 159519600], [159519783, 159519957], [159522924, 159523075], [159526231, 159526427], [159530188, 159530273], [159530394, 159530512], [159533250, 159533379], [159535092, 159535166], [159536940, 159537941]] [[159389696, 159389828], [159433782, 159433895], [159459581, 159459616], [159477501, 159477633], [159477742, 159477933], [159481389, 159481939], [159488264, 159488453], [159490584, 159490801], [159497138, 159497271], [159498997, 159499211], [159514642, 159514826], [159517844, 159517962], [159519408, 159519600], [159519783, 159519957], [159522924, 159523075], [159526231, 159526427], [159530188, 159530273], [159530394, 159530512], [159533250, 159533379], [159535092, 159535166], [159536940, 159537189]]
NM_001005476 [[159313391, 159313730], [159389691, 159389828], [159433782, 159433895], [159459581, 159459616], [159477501, 159477633], [159477742, 159477933], [159481389, 159481939], [159488264, 159488453], [159490581, 159490801], [159497138, 159497271], [159498997, 159499211], [159514642, 159514826], [159517844, 159517962], [159519408, 159519600], [159519783, 159519957], [159522924, 159523075], [159526231, 159526427], [159530188, 159530273], [159530394, 159530512], [159535092, 159535166], [159536940, 159537941]] [[159389696, 159389828], [159433782, 159433895], [159459581, 159459616], [159477501, 159477633], [159477742, 159477933], [159481389, 159481939], [159488264, 159488453], [159490581, 159490801], [159497138, 159497271], [159498997, 159499211], [159514642, 159514826], [159517844, 159517962], [159519408, 159519600], [159519783, 159519957], [159522924, 159523075], [159526231, 159526427], [159530188, 159530273], [159530394, 159530512], [159535092, 159535166], [159536940, 159537189]]
NM_003628 [[159313391, 159313730], [159389691, 159389828], [159433782, 159433895], [159459581, 159459616], [159477501, 159477633], [159477742, 159477933], [159481389, 159481939], [159488264, 159488453], [159490581, 159490801], [159497138, 159497271], [159498997, 159499211], [159514642, 159514826], [159517844, 159517962], [159519408, 159519600], [159519783, 159519957], [159522924, 159523075], [159526231, 159526427], [159530188, 159530273], [159530394, 159530512], [159533250, 159533379], [159535092, 159535166], [159536940, 159537941]] [[159389696, 159389828], [159433782, 159433895], [159459581, 159459616], [159477501, 159477633], [159477742, 159477933], [159481389, 159481939], [159488264, 159488453], [159490581, 159490801], [159497138, 159497271], [159498997, 159499211], [159514642, 159514826], [159517844, 159517962], [159519408, 159519600], [159519783, 159519957], [159522924, 159523075], [159526231, 159526427], [159530188, 159530273], [159530394, 159530512], [159533250, 159533379], [159535092, 159535166], [159536940, 159537189]]
Promoter
Chrom Start End Description
chr2 159313379 159313428 CAGE_peak_2_at_PKP4_5end
chr2 159313434 159313449 CAGE_peak_4_at_PKP4_5end
chr2 159313452 159313498 CAGE_peak_1_at_PKP4_5end
chr2 159313941 159313990 CAGE_peak_5_at_PKP4_5end
chr2 159314398 159314445 CAGE_peak_3_at_PKP4_5end
chr2 159314753 159314782 CAGE_peak_6_at_PKP4_5end
chr2 159314786 159314797 CAGE_peak_12_at_PKP4_5end
chr2 159389727 159389741 CAGE_peak_9_at_PKP4_5end
chr2 159477806 159477820 CAGE_peak_7_at_PKP4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I157847 157847154 157849274 0.2 [{'connected_gene': 'ACVR1', 'score': 11.73}, {'connected_gene': 'PKP4', 'score': 4.26}, {'connected_gene': 'GC02P157838', 'score': 0.44}, {'connected_gene': 'GC02P157874', 'score': 0.31}]
chr2 GH02I158202 158202529 158202678 0.54 [{'connected_gene': 'PKP4', 'score': 6.6}, {'connected_gene': 'CCDC148-AS1', 'score': 0.28}, {'connected_gene': 'GC02P158160', 'score': 0.26}, {'connected_gene': 'HNRNPDLP2', 'score': 0.08}, {'connected_gene': 'CCDC148', 'score': 0.07}]
chr2 GH02I158456 158456249 158459823 2.08 [{'connected_gene': 'PKP4', 'score': 556.99}, {'connected_gene': 'CCDC148', 'score': 550.77}, {'connected_gene': 'OR7E28P', 'score': 7.17}, {'connected_gene': 'ENSG00000228586', 'score': 5.26}, {'connected_gene': 'RPL7AP22', 'score': 0.16}]
chr2 GH02I158586 158586191 158586839 0.77 [{'connected_gene': 'PKP4', 'score': 11.48}, {'connected_gene': 'CCDC148', 'score': 11.48}, {'connected_gene': 'RN7SL393P', 'score': 11.47}, {'connected_gene': 'ENSG00000231675', 'score': 4.77}, {'connected_gene': 'LOC105373715', 'score': 0.44}, {'connected_gene': 'GC02M158585', 'score': 0.44}]
chr2 GH02I158477 158477201 158477800 0.2 [{'connected_gene': 'PKP4', 'score': 18.4}, {'connected_gene': 'CCDC148', 'score': 12.33}, {'connected_gene': 'RN7SL393P', 'score': 12.28}, {'connected_gene': 'RPL7AP22', 'score': 0.19}]
chr2 GH02I158489 158489401 158489600 0.46 [{'connected_gene': 'PKP4', 'score': 11.83}, {'connected_gene': 'CCDC148', 'score': 11.83}, {'connected_gene': 'RN7SL393P', 'score': 11.8}, {'connected_gene': 'RPL7AP22', 'score': 0.22}]
chr2 GH02I158487 158487629 158487778 0.49 [{'connected_gene': 'PKP4', 'score': 11.79}, {'connected_gene': 'CCDC148', 'score': 11.79}, {'connected_gene': 'RN7SL393P', 'score': 11.76}, {'connected_gene': 'RPL7AP22', 'score': 0.21}]
chr2 GH02I158486 158486601 158486801 0.43 [{'connected_gene': 'PKP4', 'score': 11.81}, {'connected_gene': 'CCDC148', 'score': 11.81}, {'connected_gene': 'RN7SL393P', 'score': 11.77}, {'connected_gene': 'RPL7AP22', 'score': 0.21}]
chr2 GH02I158510 158510001 158510800 0.54 [{'connected_gene': 'PKP4', 'score': 17.75}, {'connected_gene': 'CCDC148', 'score': 15.5}, {'connected_gene': 'RN7SL393P', 'score': 11.31}, {'connected_gene': 'PKP4-AS1', 'score': 10.41}, {'connected_gene': 'OR7E28P', 'score': 4.26}, {'connected_gene': 'RPL7AP22', 'score': 0.28}]
chr2 GH02I158505 158505234 158506522 0.87 [{'connected_gene': 'PKP4', 'score': 11.35}, {'connected_gene': 'CCDC148', 'score': 11.35}, {'connected_gene': 'RN7SL393P', 'score': 11.32}, {'connected_gene': 'PKP4-AS1', 'score': 10.41}, {'connected_gene': 'ENSG00000228586', 'score': 5.76}, {'connected_gene': 'RPL7AP22', 'score': 0.26}]
chr2 GH02I158142 158142886 158144832 0.69 [{'connected_gene': 'PKP4', 'score': 17.97}, {'connected_gene': 'GALNT5', 'score': 4.33}, {'connected_gene': 'UPP2-IT1', 'score': 0.37}, {'connected_gene': 'GC02P158160', 'score': 0.37}]
chr2 GH02I158113 158113601 158114435 0.59 [{'connected_gene': 'PKP4', 'score': 37.23}, {'connected_gene': 'UPP2-IT1', 'score': 0.39}, {'connected_gene': 'PTP4A1P1', 'score': 0.25}, {'connected_gene': 'UPP2', 'score': 0.07}]
chr2 GH02I158093 158093676 158096310 0.83 [{'connected_gene': 'PKP4', 'score': 12.67}, {'connected_gene': 'PTP4A1P1', 'score': 0.31}, {'connected_gene': 'UPP2-IT1', 'score': 0.29}, {'connected_gene': 'UPP2', 'score': 0.08}]
chr2 GH02I158460 158460801 158461000 0.46 [{'connected_gene': 'PKP4', 'score': 0.77}, {'connected_gene': 'RPL7AP22', 'score': 0.17}]
chr2 GH02I158538 158538697 158540196 1 [{'connected_gene': 'PKP4', 'score': 6.25}, {'connected_gene': 'RPL7AP22', 'score': 0.44}]
chr2 GH02I158501 158501563 158503954 0.98 [{'connected_gene': 'PKP4', 'score': 6.32}, {'connected_gene': 'RPL7AP22', 'score': 0.25}]
chr2 GH02I158497 158497306 158498238 0.76 [{'connected_gene': 'PKP4', 'score': 0.26}, {'connected_gene': 'RPL7AP22', 'score': 0.23}]
chr2 GH02I158528 158528733 158530488 0.31 [{'connected_gene': 'PKP4', 'score': 6.81}, {'connected_gene': 'RPL7AP22', 'score': 0.37}]
chr2 GH02I158714 158714968 158719331 0.72 [{'connected_gene': 'PKP4', 'score': 4.01}, {'connected_gene': 'ENSG00000231675', 'score': 0.39}, {'connected_gene': 'PKP4-AS1', 'score': 0.37}, {'connected_gene': 'ENSG00000228586', 'score': 0.29}]
chr2 GH02I159379 159379948 159382759 0.66 [{'connected_gene': 'LY75', 'score': 4.93}, {'connected_gene': 'PKP4', 'score': 4.55}, {'connected_gene': 'ENSG00000223642', 'score': 0.44}, {'connected_gene': 'WDSUB1', 'score': 0.16}, {'connected_gene': 'BAZ2B', 'score': 0.06}]
chr2 GH02I158618 158618713 158620000 0.95 [{'connected_gene': 'CCDC148', 'score': 4.44}, {'connected_gene': 'GC02M158585', 'score': 0.31}, {'connected_gene': 'ENSG00000228586', 'score': 0.2}, {'connected_gene': 'PKP4', 'score': 0.1}]
chr2 GH02I158213 158213795 158215226 1.1 [{'connected_gene': 'RN7SL393P', 'score': 11.6}, {'connected_gene': 'PKP4', 'score': 11.59}, {'connected_gene': 'CCDC148', 'score': 11.59}, {'connected_gene': 'CCDC148-AS1', 'score': 8.53}, {'connected_gene': 'GC02P158160', 'score': 0.23}, {'connected_gene': 'HNRNPDLP2', 'score': 0.08}]
chr2 GH02I158185 158185049 158185298 0.88 [{'connected_gene': 'RN7SL393P', 'score': 11.34}, {'connected_gene': 'PKP4', 'score': 11.33}, {'connected_gene': 'CCDC148', 'score': 11.33}, {'connected_gene': 'CCDC148-AS1', 'score': 0.37}, {'connected_gene': 'GC02P158160', 'score': 0.34}, {'connected_gene': 'HNRNPDLP2', 'score': 0.07}]
chr2 GH02I158126 158126716 158133133 0.95 [{'connected_gene': 'UPP2-IT1', 'score': 550.77}, {'connected_gene': 'PKP4', 'score': 28.57}, {'connected_gene': 'GALNT5', 'score': 4.97}, {'connected_gene': 'GC02P158160', 'score': 0.29}, {'connected_gene': 'UPP2', 'score': 0.07}]
chr2 GH02I158598 158598981 158601567 0.8 [{'connected_gene': 'RPL7AP22', 'score': 4.31}, {'connected_gene': 'GC02M158585', 'score': 0.44}, {'connected_gene': 'ENSG00000228586', 'score': 0.17}, {'connected_gene': 'PKP4', 'score': 0.11}]
chr2 GH02I158518 158518200 158518401 0.6 [{'connected_gene': 'RPL7AP22', 'score': 0.29}, {'connected_gene': 'PKP4', 'score': 0.21}]
chr2 GH02I158667 158667169 158669005 0.38 [{'connected_gene': 'PKP4-AS1', 'score': 4.92}, {'connected_gene': 'ENSG00000228586', 'score': 0.37}, {'connected_gene': 'GC02M158585', 'score': 0.18}, {'connected_gene': 'PKP4', 'score': 0.08}]
chr2 GH02I158042 158042801 158043000 0.2 [{'connected_gene': 'PKP4-AS1', 'score': 10.6}, {'connected_gene': 'RN7SL393P', 'score': 10.43}, {'connected_gene': 'CCDC148', 'score': 10.43}, {'connected_gene': 'PKP4', 'score': 10.43}, {'connected_gene': 'PTP4A1P1', 'score': 0.34}, {'connected_gene': 'RNU6-932P', 'score': 0.22}, {'connected_gene': 'GC02M157986', 'score': 0.22}, {'connected_gene': 'UPP2', 'score': 0.1}]
chr2 GH02I157836 157836036 157842635 1.76 [{'connected_gene': 'GC02P157838', 'score': 550.77}, {'connected_gene': 'ACVR1', 'score': 12.02}, {'connected_gene': 'PKP4', 'score': 5.49}, {'connected_gene': 'GC02P157874', 'score': 0.28}]
chr2 GH02I158601 158601820 158602558 0.59 [{'connected_gene': 'GC02M158585', 'score': 0.44}, {'connected_gene': 'ENSG00000228586', 'score': 0.18}, {'connected_gene': 'PKP4', 'score': 0.11}]
chr2 GH02I158644 158644289 158644438 0.2 [{'connected_gene': 'ENSG00000228586', 'score': 0.26}, {'connected_gene': 'GC02M158585', 'score': 0.23}, {'connected_gene': 'PKP4', 'score': 0.09}]

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