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
ENST00000353364 [[62654118, 62654284], [62687959, 62688087], [62696570, 62696701], [62708570, 62708697], [62715244, 62715390], [62719652, 62719714], [62749111, 62749256], [62775270, 62775444], [62777620, 62777779], [62777858, 62778083], [62783210, 62783294], [62783384, 62783479], [62783576, 62783768], [62784643, 62784759], [62784936, 62785209], [62785595, 62785666], [62786051, 62786167], [62786832, 62786982], [62790074, 62790178], [62794966, 62795055], [62797972, 62799899]] [[62654195, 62654284], [62687959, 62688087], [62696570, 62696701], [62708570, 62708697], [62715244, 62715390], [62719652, 62719714], [62749111, 62749256], [62775270, 62775444], [62777620, 62777779], [62777858, 62778083], [62783210, 62783294], [62783384, 62783479], [62783576, 62783768], [62784643, 62784759], [62784936, 62785209], [62785595, 62785666], [62786051, 62786167], [62786832, 62786982], [62790074, 62790178], [62794966, 62795055], [62797972, 62798155]]
ENST00000280377 [[62654137, 62654284], [62687959, 62688087], [62696570, 62696701], [62708570, 62708697], [62715244, 62715390], [62719652, 62719714], [62743001, 62743088], [62749111, 62749256], [62775270, 62775444], [62777620, 62777779], [62777858, 62778083], [62783210, 62783294], [62783384, 62783479], [62783576, 62783768], [62784643, 62784759], [62784936, 62785209], [62785595, 62785666], [62786051, 62786167], [62786832, 62786982], [62790074, 62790178], [62794966, 62795055], [62797972, 62799899]] [[62654195, 62654284], [62687959, 62688087], [62696570, 62696701], [62708570, 62708697], [62715244, 62715390], [62719652, 62719714], [62743001, 62743088], [62749111, 62749256], [62775270, 62775444], [62777620, 62777779], [62777858, 62778083], [62783210, 62783294], [62783384, 62783479], [62783576, 62783768], [62784643, 62784759], [62784936, 62785209], [62785595, 62785666], [62786051, 62786167], [62786832, 62786982], [62790074, 62790178], [62794966, 62795055], [62797972, 62798155]]
ENST00000393654 [[62654186, 62654284], [62687959, 62688087], [62696570, 62696701], [62708570, 62708697], [62715244, 62715402], [62719652, 62719714], [62749111, 62749256], [62775270, 62775444], [62777620, 62777779], [62777858, 62778083], [62783210, 62783294], [62783384, 62783479], [62783576, 62783768], [62784643, 62784759], [62784936, 62785209], [62785595, 62785666], [62786051, 62786167], [62786832, 62786982], [62790074, 62790178], [62794966, 62795055], [62797972, 62799898]] [[62654195, 62654284], [62687959, 62688087], [62696570, 62696701], [62708570, 62708697], [62715244, 62715402], [62719652, 62719714], [62749111, 62749256], [62775270, 62775444], [62777620, 62777779], [62777858, 62778083], [62783210, 62783294], [62783384, 62783479], [62783576, 62783768], [62784643, 62784759], [62784936, 62785209], [62785595, 62785666], [62786051, 62786167], [62786832, 62786982], [62790074, 62790178], [62794966, 62795055], [62797972, 62798155]]
ENST00000549268 [[62749208, 62749256], [62768170, 62768316], [62775270, 62775444], [62777620, 62778083], [62783210, 62783294], [62783384, 62783479], [62783576, 62783653]] None
ENST00000549523 [[62654136, 62654284], [62687959, 62688087], [62696570, 62696701], [62706066, 62706090], [62708570, 62708697], [62715244, 62715270]] [[62654195, 62654284], [62687959, 62688087], [62696570, 62696701], [62706066, 62706090], [62708570, 62708697], [62715244, 62715270]]
ENST00000550632 [[62654144, 62654284], [62687959, 62688087], [62696570, 62696701], [62708570, 62708697], [62715244, 62715390], [62749111, 62749167]] None
ENST00000312635 [[62654177, 62654284], [62687959, 62688087], [62696570, 62696701], [62708570, 62708697], [62715244, 62715390], [62719652, 62719714], [62728946, 62730471]] [[62654195, 62654284], [62687959, 62688087], [62696570, 62696701], [62708570, 62708697], [62715244, 62715390], [62719652, 62719714], [62728946, 62728971]]
ENST00000548524 [[62654179, 62654284], [62687959, 62688087], [62696570, 62696701], [62708570, 62708854]] None
ENST00000546718 [[62654187, 62654284], [62687959, 62688421]] None
ENST00000551206 [[62654187, 62654284], [62687959, 62688087], [62696570, 62697367]] None
ENST00000537297 [[62654188, 62654284], [62687959, 62688087], [62696570, 62696701], [62698453, 62698677]] None
ENST00000549237 [[62654208, 62654284], [62687959, 62688087], [62696570, 62696701], [62708570, 62708697], [62715244, 62715390], [62719652, 62719714], [62721441, 62721562]] [[62654208, 62654284], [62687959, 62688087], [62696570, 62696701], [62708570, 62708697], [62715244, 62715390], [62719652, 62719714], [62721441, 62721493]]
ENST00000548836 [[62672408, 62672495], [62687959, 62688087], [62696570, 62696701], [62708570, 62708697], [62715244, 62715350]] [[62688032, 62688087], [62696570, 62696701], [62708570, 62708697], [62715244, 62715350]]
ENST00000546694 [[62699375, 62699839], [62708570, 62708697], [62715244, 62715390], [62719652, 62719714]] [[62708585, 62708697], [62715244, 62715390], [62719652, 62719714]]
ENST00000552997 [[62715241, 62715390], [62719652, 62719714], [62722073, 62722186], [62728946, 62729155]] [[62715241, 62715390], [62719652, 62719714], [62722073, 62722125]]
ENST00000547317 [[62748791, 62748855], [62749111, 62749256], [62768170, 62768316], [62775270, 62775414]] None
ENST00000549415 [[62786141, 62786167], [62786832, 62786982], [62790074, 62790178], [62794966, 62795055], [62810877, 62811211]] [[62786141, 62786167], [62786832, 62786982], [62790074, 62790178], [62794966, 62795055], [62810877, 62810982]]
ENST00000548620 [[62786854, 62786982], [62794966, 62795055], [62797972, 62798571]] [[62786854, 62786982], [62794966, 62794988]]
ENST00000552346 [[62790063, 62790178], [62794966, 62795055], [62797972, 62798423]] None
ENST00000549101 [[62794937, 62795055], [62797972, 62798437]] None
NM_006313 [[62654120, 62654284], [62687959, 62688087], [62696570, 62696701], [62708570, 62708697], [62715244, 62715390], [62719652, 62719714], [62749111, 62749256], [62775270, 62775444], [62777620, 62777779], [62777858, 62778083], [62783210, 62783294], [62783384, 62783479], [62783576, 62783768], [62784643, 62784759], [62784936, 62785209], [62785595, 62785666], [62786051, 62786167], [62786832, 62786982], [62790074, 62790178], [62794966, 62795055], [62797972, 62803501]] [[62654195, 62654284], [62687959, 62688087], [62696570, 62696701], [62708570, 62708697], [62715244, 62715390], [62719652, 62719714], [62749111, 62749256], [62775270, 62775444], [62777620, 62777779], [62777858, 62778083], [62783210, 62783294], [62783384, 62783479], [62783576, 62783768], [62784643, 62784759], [62784936, 62785209], [62785595, 62785666], [62786051, 62786167], [62786832, 62786982], [62790074, 62790178], [62794966, 62795055], [62797972, 62798155]]
NM_001252078 [[62654120, 62654284], [62687959, 62688087], [62696570, 62696701], [62708570, 62708697], [62715244, 62715390], [62719652, 62719714], [62743001, 62743088], [62749111, 62749256], [62775270, 62775444], [62777620, 62777779], [62777858, 62778083], [62783210, 62783294], [62783384, 62783479], [62783576, 62783768], [62784643, 62784759], [62784936, 62785209], [62785595, 62785666], [62786051, 62786167], [62786832, 62786982], [62790074, 62790178], [62794966, 62795055], [62797972, 62803501]] [[62654195, 62654284], [62687959, 62688087], [62696570, 62696701], [62708570, 62708697], [62715244, 62715390], [62719652, 62719714], [62743001, 62743088], [62749111, 62749256], [62775270, 62775444], [62777620, 62777779], [62777858, 62778083], [62783210, 62783294], [62783384, 62783479], [62783576, 62783768], [62784643, 62784759], [62784936, 62785209], [62785595, 62785666], [62786051, 62786167], [62786832, 62786982], [62790074, 62790178], [62794966, 62795055], [62797972, 62798155]]
NM_001252079 [[62654120, 62654284], [62687959, 62688087], [62696570, 62696701], [62708570, 62708697], [62715244, 62715390], [62719652, 62719714], [62728946, 62730474]] [[62654195, 62654284], [62687959, 62688087], [62696570, 62696701], [62708570, 62708697], [62715244, 62715390], [62719652, 62719714], [62728946, 62728971]]
Promoter
Chrom Start End Description
chr12 62653873 62653919 CAGE_peak_3_at_USP15_5end
chr12 62654131 62654142 CAGE_peak_2_at_USP15_5end
chr12 62654155 62654194 CAGE_peak_1_at_USP15_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I062210 62210601 62211948 0.83 [{'connected_gene': 'USP15', 'score': 14.54}, {'connected_gene': 'FAM19A2', 'score': 6.15}, {'connected_gene': 'LINC01465', 'score': 2.9}, {'connected_gene': 'GC12M062192', 'score': 0.37}, {'connected_gene': 'PIR40217', 'score': 0.37}, {'connected_gene': 'KLF17P1', 'score': 0.34}]
chr12 GH12I062282 62282233 62283812 0.6 [{'connected_gene': 'USP15', 'score': 20.42}, {'connected_gene': 'FAM19A2', 'score': 0.77}, {'connected_gene': 'GC12M062335', 'score': 0.23}, {'connected_gene': 'RNU6-595P', 'score': 0.23}]
chr12 GH12I062308 62308987 62310216 0.2 [{'connected_gene': 'USP15', 'score': 20.32}, {'connected_gene': 'FAM19A2', 'score': 8.05}, {'connected_gene': 'GC12M062335', 'score': 0.34}, {'connected_gene': 'RNU6-595P', 'score': 0.34}]
chr12 GH12I062329 62329317 62330449 0.2 [{'connected_gene': 'USP15', 'score': 18.92}, {'connected_gene': 'FAM19A2', 'score': 7.99}, {'connected_gene': 'GC12M062335', 'score': 0.77}, {'connected_gene': 'RNU6-595P', 'score': 0.77}]
chr12 GH12I062321 62321114 62324269 0.31 [{'connected_gene': 'USP15', 'score': 20.29}, {'connected_gene': 'FAM19A2', 'score': 8.21}, {'connected_gene': 'GC12M062335', 'score': 0.39}, {'connected_gene': 'RNU6-595P', 'score': 0.39}]
chr12 GH12I062294 62294619 62298222 0.46 [{'connected_gene': 'USP15', 'score': 20.35}, {'connected_gene': 'FAM19A2', 'score': 8.12}, {'connected_gene': 'GC12M062335', 'score': 0.28}, {'connected_gene': 'RNU6-595P', 'score': 0.28}]
chr12 GH12I062274 62274736 62276819 0.54 [{'connected_gene': 'USP15', 'score': 20.76}, {'connected_gene': 'FAM19A2', 'score': 8.5}, {'connected_gene': 'MIR6125', 'score': 0.37}]
chr12 GH12I062270 62270198 62271248 0.65 [{'connected_gene': 'USP15', 'score': 20.8}, {'connected_gene': 'FAM19A2', 'score': 5.32}, {'connected_gene': 'MIR6125', 'score': 0.39}]
chr12 GH12I062272 62272076 62273658 0.38 [{'connected_gene': 'USP15', 'score': 20.8}, {'connected_gene': 'FAM19A2', 'score': 0.44}, {'connected_gene': 'MIR6125', 'score': 0.39}]
chr12 GH12I062273 62273718 62274567 0.57 [{'connected_gene': 'USP15', 'score': 18.75}, {'connected_gene': 'FAM19A2', 'score': 6.55}, {'connected_gene': 'MIR6125', 'score': 0.39}]
chr12 GH12I062181 62181788 62181951 0.49 [{'connected_gene': 'USP15', 'score': 1.35}, {'connected_gene': 'FAM19A2', 'score': 1.28}, {'connected_gene': 'GC12M062192', 'score': 0.39}, {'connected_gene': 'PIR40217', 'score': 0.39}, {'connected_gene': 'GC12M062144', 'score': 0.28}]
chr12 GH12I062263 62263212 62265993 1.13 [{'connected_gene': 'USP15', 'score': 22.95}, {'connected_gene': 'LINC01465', 'score': 9.26}, {'connected_gene': 'FAM19A2', 'score': 8.15}, {'connected_gene': 'MIR6125', 'score': 0.77}]
chr12 GH12I062379 62379199 62379459 0.22 [{'connected_gene': 'USP15', 'score': 19.76}, {'connected_gene': 'MON2', 'score': 2.94}, {'connected_gene': 'ENSG00000275881', 'score': 0.39}, {'connected_gene': 'GC12M062335', 'score': 0.25}, {'connected_gene': 'RNU6-595P', 'score': 0.25}]
chr12 GH12I062299 62299040 62302691 0.43 [{'connected_gene': 'USP15', 'score': 20.66}, {'connected_gene': 'RNU6-595P', 'score': 12.51}, {'connected_gene': 'FAM19A2', 'score': 8.1}, {'connected_gene': 'GC12M062335', 'score': 0.29}]
chr12 GH12I062327 62327840 62328715 0.52 [{'connected_gene': 'USP15', 'score': 18.88}, {'connected_gene': 'GC12M062335', 'score': 0.44}, {'connected_gene': 'RNU6-595P', 'score': 0.44}, {'connected_gene': 'FAM19A2', 'score': 0.25}]
chr12 GH12I062268 62268201 62269612 1.1 [{'connected_gene': 'USP15', 'score': 0.44}, {'connected_gene': 'MIR6125', 'score': 0.44}, {'connected_gene': 'FAM19A2', 'score': 0.39}]
chr12 GH12I062267 62267801 62268000 0.63 [{'connected_gene': 'USP15', 'score': 0.44}, {'connected_gene': 'MIR6125', 'score': 0.44}, {'connected_gene': 'FAM19A2', 'score': 0.39}]
chr12 GH12I062269 62267201 62267400 0.63 [{'connected_gene': 'USP15', 'score': 0.44}, {'connected_gene': 'MIR6125', 'score': 0.44}, {'connected_gene': 'FAM19A2', 'score': 0.39}]
chr12 GH12I062256 62256401 62263059 2.84 [{'connected_gene': 'USP15', 'score': 570.91}, {'connected_gene': 'MIR6125', 'score': 550.77}, {'connected_gene': 'MON2', 'score': 26.47}, {'connected_gene': 'ENSG00000257354', 'score': 25.76}, {'connected_gene': 'RPL14P1', 'score': 13.54}, {'connected_gene': 'FAM19A2', 'score': 8.14}, {'connected_gene': 'LINC01465', 'score': 4.0}, {'connected_gene': 'KLF17P1', 'score': 0.34}]
chr12 GH12I062655 62655481 62657557 0.38 [{'connected_gene': 'USP15', 'score': 4.15}, {'connected_gene': 'RPL32P26', 'score': 0.77}, {'connected_gene': 'PIR49720', 'score': 0.44}, {'connected_gene': 'GC12M062647', 'score': 0.44}, {'connected_gene': 'PPM1H', 'score': 0.06}]
chr12 GH12I062248 62248960 62249201 1.28 [{'connected_gene': 'USP15', 'score': 0.39}, {'connected_gene': 'KLF17P1', 'score': 0.39}, {'connected_gene': 'FAM19A2', 'score': 0.29}]
chr12 GH12I062246 62246998 62248112 0.49 [{'connected_gene': 'USP15', 'score': 0.39}, {'connected_gene': 'KLF17P1', 'score': 0.39}, {'connected_gene': 'FAM19A2', 'score': 0.29}]
chr12 GH12I062279 62279845 62281849 0.31 [{'connected_gene': 'FAM19A2', 'score': 550.77}, {'connected_gene': 'USP15', 'score': 20.74}, {'connected_gene': 'GC12M062335', 'score': 0.23}, {'connected_gene': 'RNU6-595P', 'score': 0.23}]
chr12 GH12I062250 62250526 62252399 1.54 [{'connected_gene': 'FAM19A2', 'score': 8.08}, {'connected_gene': 'LINC01465', 'score': 5.49}, {'connected_gene': 'USP15', 'score': 2.84}, {'connected_gene': 'KLF17P1', 'score': 0.37}]
chr12 GH12I062305 62305379 62307604 0.49 [{'connected_gene': 'FAM19A2', 'score': 7.68}, {'connected_gene': 'GC12M062335', 'score': 0.31}, {'connected_gene': 'RNU6-595P', 'score': 0.31}, {'connected_gene': 'USP15', 'score': 0.25}]
chr12 GH12I062702 62700289 62700334 0.43 [{'connected_gene': 'LINC01465', 'score': 9.06}, {'connected_gene': 'USP15', 'score': 2.32}, {'connected_gene': 'RPL32P26', 'score': 0.26}, {'connected_gene': 'GAPDHP44', 'score': 0.23}, {'connected_gene': 'PPM1H', 'score': 0.07}]
chr12 GH12I062699 62698098 62698199 0.47 [{'connected_gene': 'LINC01465', 'score': 11.35}, {'connected_gene': 'USP15', 'score': 1.92}, {'connected_gene': 'RPL32P26', 'score': 0.28}, {'connected_gene': 'GAPDHP44', 'score': 0.22}, {'connected_gene': 'PPM1H', 'score': 0.07}]
chr12 GH12I062701 62701702 62704857 1.31 [{'connected_gene': 'LINC01465', 'score': 12.12}, {'connected_gene': 'USP15', 'score': 1.94}, {'connected_gene': 'RPL32P26', 'score': 0.26}, {'connected_gene': 'GAPDHP44', 'score': 0.23}, {'connected_gene': 'PPM1H', 'score': 0.07}]
chr12 GH12I062214 62214105 62216687 1.07 [{'connected_gene': 'LINC01465', 'score': 3.72}, {'connected_gene': 'USP15', 'score': 2.92}, {'connected_gene': 'GC12M062192', 'score': 0.34}, {'connected_gene': 'PIR40217', 'score': 0.34}, {'connected_gene': 'KLF17P1', 'score': 0.34}, {'connected_gene': 'FAM19A2', 'score': 0.21}]
chr12 GH12I062631 62631141 62633330 1.33 [{'connected_gene': 'LINC01465', 'score': 11.17}, {'connected_gene': 'MIRLET7I', 'score': 11.17}, {'connected_gene': 'MON2', 'score': 10.83}, {'connected_gene': 'USP15', 'score': 4.47}, {'connected_gene': 'GC12P062638', 'score': 0.44}, {'connected_gene': 'ENSG00000275180', 'score': 0.31}]
chr12 GH12I062319 62319071 62319514 0.96 [{'connected_gene': 'MON2', 'score': 14.98}, {'connected_gene': 'ENSG00000257354', 'score': 13.78}, {'connected_gene': 'USP15', 'score': 10.92}, {'connected_gene': 'ENSG00000257568', 'score': 9.88}, {'connected_gene': 'LINC01465', 'score': 5.1}, {'connected_gene': 'GC12M062335', 'score': 0.39}, {'connected_gene': 'RNU6-595P', 'score': 0.39}, {'connected_gene': 'FAM19A2', 'score': 0.26}]
chr12 GH12I062284 62284055 62285500 0.66 [{'connected_gene': 'MON2', 'score': 15.29}, {'connected_gene': 'ENSG00000257354', 'score': 13.77}, {'connected_gene': 'RNU6-595P', 'score': 11.46}, {'connected_gene': 'ENSG00000257568', 'score': 9.86}, {'connected_gene': 'FAM19A2', 'score': 0.44}, {'connected_gene': 'USP15', 'score': 0.34}, {'connected_gene': 'GC12M062335', 'score': 0.25}]
chr12 GH12I062291 62291885 62292157 0.63 [{'connected_gene': 'RNU6-595P', 'score': 11.92}, {'connected_gene': 'USP15', 'score': 6.78}, {'connected_gene': 'MON2', 'score': 2.08}, {'connected_gene': 'LINC01465', 'score': 1.39}, {'connected_gene': 'FAM19A2', 'score': 0.39}, {'connected_gene': 'GC12M062335', 'score': 0.26}]
chr12 GH12I062312 62312902 62314435 0.31 [{'connected_gene': 'RNU6-595P', 'score': 13.16}, {'connected_gene': 'FAM19A2', 'score': 8.05}, {'connected_gene': 'USP15', 'score': 6.38}, {'connected_gene': 'GC12M062335', 'score': 0.34}]
chr12 GH12I062601 62601271 62605801 2.06 [{'connected_gene': 'ENSG00000257354', 'score': 578.14}, {'connected_gene': 'MIRLET7I', 'score': 550.77}, {'connected_gene': 'GC12P062607', 'score': 550.77}, {'connected_gene': 'ENSG00000275180', 'score': 550.77}, {'connected_gene': 'LINC01465', 'score': 550.77}, {'connected_gene': 'MON2', 'score': 21.73}, {'connected_gene': 'USP15', 'score': 14.79}, {'connected_gene': 'FAM19A2', 'score': 4.34}]
chr12 GH12I062192 62192600 62193409 1.71 [{'connected_gene': 'GC12M062192', 'score': 550.77}, {'connected_gene': 'PIR40217', 'score': 550.77}, {'connected_gene': 'FAM19A2', 'score': 550.17}, {'connected_gene': 'USP15', 'score': 14.27}, {'connected_gene': 'ENSG00000257354', 'score': 4.6}, {'connected_gene': 'KLF17P1', 'score': 0.26}]
chr12 GH12I062977 62977129 62978069 0.74 [{'connected_gene': 'ENSG00000257354', 'score': 13.8}, {'connected_gene': 'MON2', 'score': 13.32}, {'connected_gene': 'USP15', 'score': 9.92}, {'connected_gene': 'RPL14P1', 'score': 0.39}, {'connected_gene': 'LOC100506911', 'score': 0.34}]
chr12 GH12I062405 62405700 62405930 0.4 [{'connected_gene': 'ENSG00000275881', 'score': 0.39}, {'connected_gene': 'MON2', 'score': 0.21}, {'connected_gene': 'USP15', 'score': 0.11}]
chr12 GH12I062334 62334254 62336972 0.31 [{'connected_gene': 'GC12M062335', 'score': 550.77}, {'connected_gene': 'RNU6-595P', 'score': 550.77}, {'connected_gene': 'USP15', 'score': 20.26}, {'connected_gene': 'FAM19A2', 'score': 7.98}, {'connected_gene': 'ENSG00000275881', 'score': 0.22}]
chr12 GH12I062332 62332760 62332909 0.31 [{'connected_gene': 'GC12M062335', 'score': 550.77}, {'connected_gene': 'RNU6-595P', 'score': 550.77}, {'connected_gene': 'FAM19A2', 'score': 0.23}, {'connected_gene': 'USP15', 'score': 0.19}]

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