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
ENST00000461361 [[45016732, 45016968], [45030631, 45030733], [45031041, 45031136], [45038578, 45038744], [45043029, 45043100], [45046782, 45046906], [45048911, 45049067], [45052726, 45052885], [45053674, 45054158]] None
ENST00000477865 [[45016848, 45016968], [45030635, 45030734]] None
ENST00000482004 [[45016959, 45016999], [45030631, 45030733], [45031041, 45031136], [45038578, 45038744], [45043029, 45043100], [45046782, 45046867]] None
ENST00000265564 [[45017721, 45017826], [45030631, 45030733], [45031041, 45031136], [45038578, 45038744], [45043029, 45043100], [45046782, 45046906], [45048911, 45049067], [45052726, 45052962]] [[45017769, 45017826], [45030631, 45030733], [45031041, 45031136], [45038578, 45038744], [45043029, 45043100], [45046782, 45046906], [45048911, 45049067], [45052726, 45052831]]
ENST00000467846 [[45017742, 45017826], [45030631, 45030733], [45031041, 45031136], [45038578, 45038744], [45043029, 45043731]] None
ENST00000468667 [[45017742, 45017826], [45038578, 45038744], [45043029, 45043100], [45046782, 45046906], [45048911, 45049067], [45052726, 45052885], [45053674, 45053745]] None
ENST00000491476 [[45017755, 45017826], [45030631, 45030733], [45031041, 45031136], [45038578, 45038744], [45043029, 45043100], [45046782, 45046906], [45048911, 45049067], [45052726, 45052885], [45053674, 45054125]] None
ENST00000481405 [[45017767, 45017826], [45038578, 45038744], [45077015, 45077558]] None
ENST00000498168 [[45018583, 45018909], [45030631, 45030734]] None
ENST00000486727 [[45045651, 45046906], [45048911, 45049067], [45052726, 45052962]] None
ENST00000459856 [[45052724, 45052885], [45053674, 45053782], [45053995, 45054160]] None
NM_015004 [[45017740, 45017826], [45030631, 45030733], [45031041, 45031136], [45038578, 45038744], [45043029, 45043100], [45046782, 45046906], [45048911, 45049067], [45052726, 45052962]] [[45017769, 45017826], [45030631, 45030733], [45031041, 45031136], [45038578, 45038744], [45043029, 45043100], [45046782, 45046906], [45048911, 45049067], [45052726, 45052831]]
NR_023353 [[45017740, 45017826], [45038578, 45038744], [45043029, 45043100], [45046782, 45046906], [45048911, 45049067], [45052726, 45052885], [45053674, 45054158]] None
Promoter
Chrom Start End Description
chr3 45016769 45016783 CAGE_peak_3_at_EXOSC7_5end
chr3 45017728 45017772 CAGE_peak_1_at_EXOSC7_5end
chr3 45046071 45046076 CAGE_peak_2_at_EXOSC7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I045052 45052688 45066370 1.72 [{'connected_gene': 'ZNF502', 'score': 29.2}, {'connected_gene': 'ZNF852', 'score': 25.25}, {'connected_gene': 'RN7SL145P', 'score': 24.84}, {'connected_gene': 'CLEC3B', 'score': 19.26}, {'connected_gene': 'ZNF35', 'score': 19.16}, {'connected_gene': 'CDCP1', 'score': 16.37}, {'connected_gene': 'ZNF197', 'score': 15.66}, {'connected_gene': 'ZNF660', 'score': 15.3}, {'connected_gene': 'EXOSC7', 'score': 12.21}, {'connected_gene': 'RNU5B-3P', 'score': 11.07}, {'connected_gene': 'TMEM158', 'score': 10.63}, {'connected_gene': 'ENSG00000202268', 'score': 10.23}, {'connected_gene': 'ZDHHC3', 'score': 10.2}, {'connected_gene': 'SACM1L', 'score': 10.19}, {'connected_gene': 'ZNF445', 'score': 9.97}, {'connected_gene': 'LIMD1', 'score': 9.48}, {'connected_gene': 'TMEM42', 'score': 6.46}, {'connected_gene': 'KIAA1143', 'score': 5.3}, {'connected_gene': 'ZNF501', 'score': 4.21}, {'connected_gene': 'LOC105377059', 'score': 0.44}]
chr3 GH03I045090 45090818 45094622 1.34 [{'connected_gene': 'ZNF502', 'score': 17.81}, {'connected_gene': 'ZNF197', 'score': 13.35}, {'connected_gene': 'FYCO1', 'score': 12.84}, {'connected_gene': 'RN7SL145P', 'score': 12.69}, {'connected_gene': 'CDCP1', 'score': 11.7}, {'connected_gene': 'LIMD1', 'score': 11.2}, {'connected_gene': 'TMEM158', 'score': 10.7}, {'connected_gene': 'XCR1', 'score': 10.29}, {'connected_gene': 'EXOSC7', 'score': 4.55}, {'connected_gene': 'LOC105377059', 'score': 0.34}]
chr3 GH03I045001 45001114 45001532 0.52 [{'connected_gene': 'CLEC3B', 'score': 550.77}, {'connected_gene': 'ZNF660', 'score': 9.98}, {'connected_gene': 'ZDHHC3', 'score': 0.31}, {'connected_gene': 'EXOSC7', 'score': 0.31}]
chr3 GH03I045000 45000282 45001092 0.52 [{'connected_gene': 'CLEC3B', 'score': 550.77}, {'connected_gene': 'EXOSC7', 'score': 6.34}, {'connected_gene': 'ZDHHC3', 'score': 0.34}]
chr3 GH03I045024 45024495 45028257 1.76 [{'connected_gene': 'CLEC3B', 'score': 559.7}, {'connected_gene': 'EXOSC7', 'score': 16.07}, {'connected_gene': 'ZNF660', 'score': 9.71}, {'connected_gene': 'RNU5B-3P', 'score': 0.44}]
chr3 GH03I045040 45040601 45041200 1.25 [{'connected_gene': 'CLEC3B', 'score': 11.24}, {'connected_gene': 'EXOSC7', 'score': 11.17}, {'connected_gene': 'TMEM158', 'score': 10.76}, {'connected_gene': 'LARS2-AS1', 'score': 10.46}, {'connected_gene': 'CDCP1', 'score': 10.35}, {'connected_gene': 'LIMD1', 'score': 10.16}, {'connected_gene': 'ENSG00000202268', 'score': 9.63}, {'connected_gene': 'RNU5B-3P', 'score': 0.44}, {'connected_gene': 'LOC105377059', 'score': 0.31}]
chr3 GH03I045042 45042249 45042285 0.76 [{'connected_gene': 'CLEC3B', 'score': 11.23}, {'connected_gene': 'EXOSC7', 'score': 11.17}, {'connected_gene': 'TMEM158', 'score': 11.02}, {'connected_gene': 'LARS2-AS1', 'score': 10.46}, {'connected_gene': 'CDCP1', 'score': 10.36}, {'connected_gene': 'LIMD1', 'score': 10.16}, {'connected_gene': 'ENSG00000202268', 'score': 9.98}, {'connected_gene': 'RNU5B-3P', 'score': 0.44}, {'connected_gene': 'LOC105377059', 'score': 0.31}]
chr3 GH03I044972 44971172 44971727 0.46 [{'connected_gene': 'CLEC3B', 'score': 10.63}, {'connected_gene': 'EXOSC7', 'score': 10.5}, {'connected_gene': 'RNU5B-3P', 'score': 10.06}, {'connected_gene': 'ZDHHC3', 'score': 0.77}, {'connected_gene': 'RPL12P44', 'score': 0.29}]
chr3 GH03I045003 45003506 45004222 0.4 [{'connected_gene': 'CLEC3B', 'score': 0.77}, {'connected_gene': 'EXOSC7', 'score': 0.31}, {'connected_gene': 'RNU5B-3P', 'score': 0.29}]
chr3 GH03I045002 45001609 45003436 0.83 [{'connected_gene': 'CLEC3B', 'score': 550.77}, {'connected_gene': 'EXOSC7', 'score': 15.7}, {'connected_gene': 'RNU5B-3P', 'score': 0.29}]
chr3 GH03I044978 44978463 44978924 0.38 [{'connected_gene': 'CLEC3B', 'score': 11.37}, {'connected_gene': 'RNU5B-3P', 'score': 9.69}, {'connected_gene': 'ZDHHC3', 'score': 0.77}, {'connected_gene': 'EXOSC7', 'score': 0.77}]
chr3 GH03I044970 44970969 44971118 0.52 [{'connected_gene': 'CLEC3B', 'score': 10.63}, {'connected_gene': 'RNU5B-3P', 'score': 10.06}, {'connected_gene': 'EXOSC7', 'score': 6.17}, {'connected_gene': 'ZDHHC3', 'score': 0.44}, {'connected_gene': 'RPL12P44', 'score': 0.29}]
chr3 GH03I045014 45014308 45015246 0.31 [{'connected_gene': 'CLEC3B', 'score': 0.39}, {'connected_gene': 'RNU5B-3P', 'score': 0.37}, {'connected_gene': 'EXOSC7', 'score': 0.28}]
chr3 GH03I044962 44962531 44970626 1.35 [{'connected_gene': 'TGM4', 'score': 16.63}, {'connected_gene': 'RN7SL145P', 'score': 12.33}, {'connected_gene': 'ZNF852', 'score': 11.62}, {'connected_gene': 'CLEC3B', 'score': 11.24}, {'connected_gene': 'ZNF445', 'score': 11.23}, {'connected_gene': 'LIMD1', 'score': 11.19}, {'connected_gene': 'EXOSC7', 'score': 10.83}, {'connected_gene': 'ENSG00000235845', 'score': 10.65}, {'connected_gene': 'ZNF502', 'score': 10.41}, {'connected_gene': 'RNU5B-3P', 'score': 10.06}, {'connected_gene': 'ZDHHC3', 'score': 0.44}, {'connected_gene': 'RPL12P44', 'score': 0.31}]
chr3 GH03I045084 45084209 45086558 0.97 [{'connected_gene': 'CDCP1', 'score': 10.98}, {'connected_gene': 'TMEM158', 'score': 10.6}, {'connected_gene': 'ZNF660', 'score': 10.2}, {'connected_gene': 'RNU5B-3P', 'score': 9.92}, {'connected_gene': 'CLEC3B', 'score': 9.87}, {'connected_gene': 'LIMD1', 'score': 9.31}, {'connected_gene': 'EXOSC7', 'score': 5.37}, {'connected_gene': 'LOC105377059', 'score': 0.37}]
chr3 GH03I044971 44971898 44972277 0.2 [{'connected_gene': 'ZDHHC3', 'score': 0.77}, {'connected_gene': 'EXOSC7', 'score': 0.77}, {'connected_gene': 'RPL12P44', 'score': 0.29}]
chr3 GH03I044952 44952829 44952978 0.58 [{'connected_gene': 'ZDHHC3', 'score': 11.78}, {'connected_gene': 'EXOSC7', 'score': 11.78}, {'connected_gene': 'RPL12P44', 'score': 0.37}]
chr3 GH03I045497 45497847 45498425 0.2 [{'connected_gene': 'LARS2', 'score': 21.78}, {'connected_gene': 'CLEC3B', 'score': 10.65}, {'connected_gene': 'EXOSC7', 'score': 10.64}, {'connected_gene': 'LIMD1', 'score': 10.54}, {'connected_gene': 'TMEM158', 'score': 10.31}, {'connected_gene': 'LARS2-AS1', 'score': 0.39}]
chr3 GH03I045009 45009771 45013805 1.12 [{'connected_gene': 'EXOSC7', 'score': 15.29}, {'connected_gene': 'ZNF502', 'score': 5.77}, {'connected_gene': 'CLEC3B', 'score': 0.39}, {'connected_gene': 'RNU5B-3P', 'score': 0.34}]
chr3 GH03I045037 45037575 45038298 1.37 [{'connected_gene': 'EXOSC7', 'score': 18.31}, {'connected_gene': 'CLEC3B', 'score': 11.24}, {'connected_gene': 'TMEM158', 'score': 10.76}, {'connected_gene': 'LARS2-AS1', 'score': 10.46}, {'connected_gene': 'CDCP1', 'score': 10.35}, {'connected_gene': 'LIMD1', 'score': 10.16}, {'connected_gene': 'ENSG00000202268', 'score': 9.63}, {'connected_gene': 'ZNF502', 'score': 6.42}, {'connected_gene': 'RNU5B-3P', 'score': 0.77}, {'connected_gene': 'LOC105377059', 'score': 0.29}]
chr3 GH03I045041 45041225 45042223 0.92 [{'connected_gene': 'EXOSC7', 'score': 23.36}, {'connected_gene': 'CLEC3B', 'score': 11.23}, {'connected_gene': 'TMEM158', 'score': 10.77}, {'connected_gene': 'LARS2-AS1', 'score': 10.46}, {'connected_gene': 'CDCP1', 'score': 10.36}, {'connected_gene': 'LIMD1', 'score': 10.16}, {'connected_gene': 'ZNF660', 'score': 10.07}, {'connected_gene': 'ENSG00000202268', 'score': 9.63}, {'connected_gene': 'RNU5B-3P', 'score': 0.44}, {'connected_gene': 'LOC105377059', 'score': 0.31}]
chr3 GH03I045006 45006877 45009347 0.4 [{'connected_gene': 'EXOSC7', 'score': 16.43}, {'connected_gene': 'CLEC3B', 'score': 0.44}, {'connected_gene': 'RNU5B-3P', 'score': 0.31}]
chr3 GH03I045005 45005620 45006598 0.4 [{'connected_gene': 'EXOSC7', 'score': 16.37}, {'connected_gene': 'CLEC3B', 'score': 0.77}, {'connected_gene': 'RNU5B-3P', 'score': 0.31}]
chr3 GH03I044974 44974043 44977602 2.21 [{'connected_gene': 'EXOSC7', 'score': 566.38}, {'connected_gene': 'ZDHHC3', 'score': 554.91}, {'connected_gene': 'ZNF445', 'score': 16.55}, {'connected_gene': 'RN7SL145P', 'score': 14.75}, {'connected_gene': 'CLEC3B', 'score': 11.34}, {'connected_gene': 'ZNF502', 'score': 11.08}, {'connected_gene': 'ZKSCAN7', 'score': 10.78}, {'connected_gene': 'ZNF852', 'score': 10.5}, {'connected_gene': 'RNU5B-3P', 'score': 9.69}, {'connected_gene': 'KIAA1143', 'score': 9.3}, {'connected_gene': 'ZNF197', 'score': 6.24}]
chr3 GH03I044960 44960069 44961169 0.49 [{'connected_gene': 'EXOSC7', 'score': 10.36}, {'connected_gene': 'ZNF660', 'score': 4.5}, {'connected_gene': 'ZDHHC3', 'score': 0.37}, {'connected_gene': 'RPL12P44', 'score': 0.34}]
chr3 GH03I044988 44988915 44990349 0.2 [{'connected_gene': 'EXOSC7', 'score': 16.76}, {'connected_gene': 'ZNF660', 'score': 14.84}, {'connected_gene': 'RNU5B-3P', 'score': 11.12}, {'connected_gene': 'LIMD1', 'score': 9.39}, {'connected_gene': 'ZDHHC3', 'score': 0.39}, {'connected_gene': 'CLEC3B', 'score': 0.39}]
chr3 GH03I045020 45020584 45022664 0.63 [{'connected_gene': 'EXOSC7', 'score': 16.15}, {'connected_gene': 'ZNF660', 'score': 9.73}, {'connected_gene': 'RNU5B-3P', 'score': 0.39}, {'connected_gene': 'CLEC3B', 'score': 0.34}]
chr3 GH03I044980 44980474 44984658 1.13 [{'connected_gene': 'EXOSC7', 'score': 16.8}, {'connected_gene': 'ZNF660', 'score': 11.47}, {'connected_gene': 'RNU5B-3P', 'score': 10.69}, {'connected_gene': 'ENSG00000235845', 'score': 10.2}, {'connected_gene': 'TGM4', 'score': 10.17}, {'connected_gene': 'TMEM42', 'score': 5.8}, {'connected_gene': 'ZDHHC3', 'score': 0.44}, {'connected_gene': 'CLEC3B', 'score': 0.37}]
chr3 GH03I045047 45047478 45050278 0.52 [{'connected_gene': 'EXOSC7', 'score': 22.45}, {'connected_gene': 'TMEM158', 'score': 10.91}, {'connected_gene': 'CLEC3B', 'score': 10.8}, {'connected_gene': 'CDCP1', 'score': 10.54}, {'connected_gene': 'ENSG00000202268', 'score': 9.66}, {'connected_gene': 'TMEM42', 'score': 5.36}, {'connected_gene': 'RNU5B-3P', 'score': 0.39}, {'connected_gene': 'LOC105377059', 'score': 0.37}]
chr3 GH03I045043 45043329 45044477 1.49 [{'connected_gene': 'EXOSC7', 'score': 12.53}, {'connected_gene': 'TMEM158', 'score': 11.02}, {'connected_gene': 'CDCP1', 'score': 10.23}, {'connected_gene': 'ENSG00000202268', 'score': 9.98}, {'connected_gene': 'LARS2-AS1', 'score': 9.53}, {'connected_gene': 'RNU5B-3P', 'score': 0.44}, {'connected_gene': 'LOC105377059', 'score': 0.34}]
chr3 GH03I044954 44954308 44955599 0.99 [{'connected_gene': 'EXOSC7', 'score': 6.29}, {'connected_gene': 'RPL12P44', 'score': 0.37}, {'connected_gene': 'ZDHHC3', 'score': 0.34}]
chr3 GH03I044992 44992069 44997360 1.57 [{'connected_gene': 'EXOSC7', 'score': 16.32}, {'connected_gene': 'RNU5B-3P', 'score': 11.14}, {'connected_gene': 'CLEC3B', 'score': 10.23}, {'connected_gene': 'LIMD1', 'score': 9.39}, {'connected_gene': 'ENSG00000202268', 'score': 9.3}, {'connected_gene': 'ZNF502', 'score': 8.38}, {'connected_gene': 'ZNF35', 'score': 2.08}, {'connected_gene': 'ZNF660', 'score': 1.63}, {'connected_gene': 'ZDHHC3', 'score': 0.37}]
chr3 GH03I045017 45017467 45019188 0.58 [{'connected_gene': 'EXOSC7', 'score': 16.24}, {'connected_gene': 'RNU5B-3P', 'score': 0.37}, {'connected_gene': 'CLEC3B', 'score': 0.37}]
chr3 GH03I045864 45864429 45866100 1.44 [{'connected_gene': 'CCR9', 'score': 55.57}, {'connected_gene': 'LZTFL1', 'score': 13.97}, {'connected_gene': 'FYCO1', 'score': 4.77}, {'connected_gene': 'EXOSC7', 'score': 4.31}, {'connected_gene': 'XCR1', 'score': 1.9}, {'connected_gene': 'GC03P045849', 'score': 0.37}, {'connected_gene': 'GC03M045883', 'score': 0.37}]
chr3 GH03I045066 45066630 45066770 0.86 [{'connected_gene': 'LOC105377059', 'score': 550.77}, {'connected_gene': 'RNU5B-3P', 'score': 10.78}, {'connected_gene': 'CLEC3B', 'score': 10.69}, {'connected_gene': 'CDCP1', 'score': 10.69}, {'connected_gene': 'TMEM158', 'score': 10.6}, {'connected_gene': 'ENSG00000202268', 'score': 10.24}, {'connected_gene': 'EXOSC7', 'score': 7.44}]
chr3 GH03I044955 44955801 44956000 0.2 [{'connected_gene': 'RPL12P44', 'score': 0.37}, {'connected_gene': 'EXOSC7', 'score': 0.37}, {'connected_gene': 'ZDHHC3', 'score': 0.34}]
chr3 GH03I045029 45029689 45029898 0.51 [{'connected_gene': 'RNU5B-3P', 'score': 0.77}, {'connected_gene': 'CLEC3B', 'score': 0.31}, {'connected_gene': 'EXOSC7', 'score': 0.23}]
chr3 GH03I045034 45034559 45037021 1.03 [{'connected_gene': 'RNU5B-3P', 'score': 550.77}, {'connected_gene': 'EXOSC7', 'score': 25.83}, {'connected_gene': 'CLEC3B', 'score': 11.84}, {'connected_gene': 'CDCP1', 'score': 9.63}, {'connected_gene': 'LIMD1', 'score': 9.35}, {'connected_gene': 'LOC105377059', 'score': 0.29}]
chr3 GH03I044914 44914009 44914158 0.69 [{'connected_gene': 'PIR39185', 'score': 550.77}, {'connected_gene': 'TGM4', 'score': 11.63}, {'connected_gene': 'CLEC3B', 'score': 10.23}, {'connected_gene': 'EXOSC7', 'score': 10.02}, {'connected_gene': 'ZKSCAN7', 'score': 9.73}, {'connected_gene': 'ENSG00000235845', 'score': 0.39}]
chr3 GH03I044941 44941752 44943010 0.46 [{'connected_gene': 'ENSG00000235845', 'score': 10.96}, {'connected_gene': 'TGM4', 'score': 10.9}, {'connected_gene': 'EXOSC7', 'score': 10.69}, {'connected_gene': 'RPL12P44', 'score': 0.77}, {'connected_gene': 'ZDHHC3', 'score': 0.29}]
chr3 GH03I045078 45078401 45079975 1.13 [{'connected_gene': 'ENSG00000202268', 'score': 10.43}, {'connected_gene': 'KIAA1143', 'score': 6.77}, {'connected_gene': 'ZNF660', 'score': 6.47}, {'connected_gene': 'EXOSC7', 'score': 5.2}, {'connected_gene': 'ZNF197', 'score': 4.09}, {'connected_gene': 'LOC105377059', 'score': 0.39}, {'connected_gene': 'CDCP1', 'score': 0.2}]

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