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
ENST00000525061 [[70378858, 70379185], [70407999, 70408161], [70414108, 70414203], [70475773, 70475846], [70476150, 70476299]] [[70476210, 70476299]]
ENST00000260128 [[70378858, 70379185], [70407999, 70408161], [70414108, 70414203], [70475773, 70475846], [70476150, 70476382], [70488204, 70488444], [70498591, 70498743], [70501206, 70501376], [70512837, 70512988], [70513888, 70514064], [70515426, 70515555], [70515834, 70515891], [70517037, 70517167], [70533269, 70533486], [70536176, 70536432], [70539444, 70539541], [70540006, 70540101], [70540405, 70540471], [70541738, 70541914], [70550736, 70550879], [70550969, 70551093], [70553042, 70553076], [70570739, 70573147]] [[70476210, 70476382], [70488204, 70488444], [70498591, 70498743], [70501206, 70501376], [70512837, 70512988], [70513888, 70514064], [70515426, 70515555], [70515834, 70515891], [70517037, 70517167], [70533269, 70533486], [70536176, 70536432], [70539444, 70539541], [70540006, 70540101], [70540405, 70540471], [70541738, 70541914], [70550736, 70550879], [70550969, 70551093], [70553042, 70553076], [70570739, 70570770]]
ENST00000458141 [[70378858, 70379185], [70414108, 70414203], [70475773, 70475846], [70476150, 70476382], [70488204, 70488444], [70498591, 70498743], [70501206, 70501376], [70512837, 70512988], [70513888, 70514064], [70515426, 70515555], [70515834, 70515891], [70517037, 70517167], [70533269, 70533486], [70536176, 70536432], [70539444, 70539541], [70540006, 70540101], [70540405, 70540471], [70541738, 70541914], [70550736, 70550879], [70550969, 70551093], [70553042, 70553076], [70570739, 70573150]] [[70476210, 70476382], [70488204, 70488444], [70498591, 70498743], [70501206, 70501376], [70512837, 70512988], [70513888, 70514064], [70515426, 70515555], [70515834, 70515891], [70517037, 70517167], [70533269, 70533486], [70536176, 70536432], [70539444, 70539541], [70540006, 70540101], [70540405, 70540471], [70541738, 70541914], [70550736, 70550879], [70550969, 70551093], [70553042, 70553076], [70570739, 70570770]]
ENST00000528286 [[70379051, 70379185], [70381488, 70381620], [70385476, 70385560], [70407999, 70408085]] None
ENST00000529134 [[70379221, 70379324], [70414108, 70414203], [70475773, 70475846], [70476150, 70476382], [70488204, 70488286]] [[70476210, 70476382], [70488204, 70488286]]
ENST00000402687 [[70404995, 70405360], [70407999, 70408161], [70414108, 70414203], [70475773, 70475846], [70476150, 70476382], [70488204, 70488444], [70498591, 70498743], [70501206, 70501376], [70512837, 70512988], [70513888, 70514064], [70515426, 70515555], [70515834, 70515891], [70517037, 70517167], [70533269, 70533486], [70536176, 70536432], [70539444, 70539541], [70540006, 70540101], [70540405, 70540471], [70541738, 70541914], [70550736, 70550879], [70550969, 70551093], [70553042, 70553076], [70570739, 70572290]] [[70476210, 70476382], [70488204, 70488444], [70498591, 70498743], [70501206, 70501376], [70512837, 70512988], [70513888, 70514064], [70515426, 70515555], [70515834, 70515891], [70517037, 70517167], [70533269, 70533486], [70536176, 70536432], [70539444, 70539541], [70540006, 70540101], [70540405, 70540471], [70541738, 70541914], [70550736, 70550879], [70550969, 70551093], [70553042, 70553076], [70570739, 70570770]]
ENST00000419716 [[70405027, 70405360], [70414108, 70414203], [70475773, 70475846], [70476150, 70476382], [70488204, 70488444], [70498591, 70498743], [70501206, 70501376], [70512837, 70512988], [70513888, 70514064], [70515426, 70515555], [70515834, 70515891], [70517037, 70517167], [70533269, 70533486], [70536176, 70536432], [70539444, 70539541], [70540006, 70540101], [70540405, 70540471], [70541738, 70541914], [70550736, 70550879], [70550969, 70551093], [70553042, 70553076], [70570739, 70572290]] [[70476210, 70476382], [70488204, 70488444], [70498591, 70498743], [70501206, 70501376], [70512837, 70512988], [70513888, 70514064], [70515426, 70515555], [70515834, 70515891], [70517037, 70517167], [70533269, 70533486], [70536176, 70536432], [70539444, 70539541], [70540006, 70540101], [70540405, 70540471], [70541738, 70541914], [70550736, 70550879], [70550969, 70551093], [70553042, 70553076], [70570739, 70570770]]
ENST00000521946 [[70505144, 70505218], [70512837, 70512988], [70513888, 70514064], [70515426, 70515555], [70515834, 70515891], [70517037, 70517167], [70533269, 70533486], [70536176, 70536432], [70539444, 70539541], [70540006, 70540101], [70540405, 70540471], [70541738, 70541914], [70550736, 70550879], [70550969, 70551093], [70553042, 70553076], [70554458, 70554633], [70570739, 70571643]] None
ENST00000529041 [[70405066, 70405360], [70414108, 70414203], [70475773, 70475932]] None
ENST00000534179 [[70475042, 70475333], [70475773, 70475846], [70476150, 70476379]] [[70476210, 70476379]]
ENST00000525112 [[70475047, 70475378], [70475773, 70476112]] None
ENST00000528783 [[70475676, 70475846], [70476150, 70476382], [70488204, 70488262]] [[70476210, 70476382], [70488204, 70488262]]
ENST00000525999 [[70476096, 70476382], [70488204, 70488444], [70498591, 70498695]] [[70476210, 70476382], [70488204, 70488444], [70498591, 70498695]]
ENST00000531064 [[70476282, 70476382], [70488204, 70488444], [70498591, 70498743], [70501280, 70501355]] None
ENST00000526808 [[70476330, 70476382], [70488204, 70488444], [70496688, 70496804], [70498591, 70498743]] None
ENST00000534088 [[70505118, 70505164], [70509315, 70509827]] None
ENST00000528146 [[70505173, 70505218], [70509315, 70509782]] None
ENST00000524731 [[70538188, 70538307], [70539444, 70539541], [70540006, 70540101], [70540405, 70540471], [70541738, 70541806]] None
ENST00000531512 [[70540038, 70540101], [70540405, 70540471], [70541738, 70541914], [70550969, 70551093], [70553042, 70553076], [70570739, 70572286]] [[70540038, 70540101], [70540405, 70540471], [70541738, 70541914], [70550969, 70551058]]
ENST00000530674 [[70549838, 70550879], [70550969, 70551093], [70553042, 70553076], [70570739, 70571642]] None
ENST00000532015 [[70550925, 70551093], [70570739, 70571127]] None
ENST00000526654 [[70551045, 70551093], [70553042, 70553382]] None
NM_001128204 [[70378858, 70379185], [70414108, 70414203], [70475773, 70475846], [70476150, 70476382], [70488204, 70488444], [70498591, 70498743], [70501206, 70501376], [70512837, 70512988], [70513888, 70514064], [70515426, 70515555], [70515834, 70515891], [70517037, 70517167], [70533269, 70533486], [70536176, 70536432], [70539444, 70539541], [70540006, 70540101], [70540405, 70540471], [70541738, 70541914], [70550736, 70550879], [70550969, 70551093], [70553042, 70553076], [70570739, 70573147]] [[70476210, 70476382], [70488204, 70488444], [70498591, 70498743], [70501206, 70501376], [70512837, 70512988], [70513888, 70514064], [70515426, 70515555], [70515834, 70515891], [70517037, 70517167], [70533269, 70533486], [70536176, 70536432], [70539444, 70539541], [70540006, 70540101], [70540405, 70540471], [70541738, 70541914], [70550736, 70550879], [70550969, 70551093], [70553042, 70553076], [70570739, 70570770]]
NM_015170 [[70378858, 70379185], [70407999, 70408161], [70414108, 70414203], [70475773, 70475846], [70476150, 70476382], [70488204, 70488444], [70498591, 70498743], [70501206, 70501376], [70512837, 70512988], [70513888, 70514064], [70515426, 70515555], [70515834, 70515891], [70517037, 70517167], [70533269, 70533486], [70536176, 70536432], [70539444, 70539541], [70540006, 70540101], [70540405, 70540471], [70541738, 70541914], [70550736, 70550879], [70550969, 70551093], [70553042, 70553076], [70570739, 70573147]] [[70476210, 70476382], [70488204, 70488444], [70498591, 70498743], [70501206, 70501376], [70512837, 70512988], [70513888, 70514064], [70515426, 70515555], [70515834, 70515891], [70517037, 70517167], [70533269, 70533486], [70536176, 70536432], [70539444, 70539541], [70540006, 70540101], [70540405, 70540471], [70541738, 70541914], [70550736, 70550879], [70550969, 70551093], [70553042, 70553076], [70570739, 70570770]]
NM_001128206 [[70405027, 70405360], [70414108, 70414203], [70475773, 70475846], [70476150, 70476382], [70488204, 70488444], [70498591, 70498743], [70501206, 70501376], [70512837, 70512988], [70513888, 70514064], [70515426, 70515555], [70515834, 70515891], [70517037, 70517167], [70533269, 70533486], [70536176, 70536432], [70539444, 70539541], [70540006, 70540101], [70540405, 70540471], [70541738, 70541914], [70550736, 70550879], [70550969, 70551093], [70553042, 70553076], [70570739, 70573147]] [[70476210, 70476382], [70488204, 70488444], [70498591, 70498743], [70501206, 70501376], [70512837, 70512988], [70513888, 70514064], [70515426, 70515555], [70515834, 70515891], [70517037, 70517167], [70533269, 70533486], [70536176, 70536432], [70539444, 70539541], [70540006, 70540101], [70540405, 70540471], [70541738, 70541914], [70550736, 70550879], [70550969, 70551093], [70553042, 70553076], [70570739, 70570770]]
NM_001128205 [[70405027, 70405360], [70407999, 70408161], [70414108, 70414203], [70475773, 70475846], [70476150, 70476382], [70488204, 70488444], [70498591, 70498743], [70501206, 70501376], [70512837, 70512988], [70513888, 70514064], [70515426, 70515555], [70515834, 70515891], [70517037, 70517167], [70533269, 70533486], [70536176, 70536432], [70539444, 70539541], [70540006, 70540101], [70540405, 70540471], [70541738, 70541914], [70550736, 70550879], [70550969, 70551093], [70553042, 70553076], [70570739, 70573147]] [[70476210, 70476382], [70488204, 70488444], [70498591, 70498743], [70501206, 70501376], [70512837, 70512988], [70513888, 70514064], [70515426, 70515555], [70515834, 70515891], [70517037, 70517167], [70533269, 70533486], [70536176, 70536432], [70539444, 70539541], [70540006, 70540101], [70540405, 70540471], [70541738, 70541914], [70550736, 70550879], [70550969, 70551093], [70553042, 70553076], [70570739, 70570770]]
NR_132437 [[70505134, 70505218], [70512837, 70512988], [70513888, 70514064], [70515426, 70515555], [70515834, 70515891], [70517037, 70517167], [70533269, 70533486], [70536176, 70536432], [70539444, 70539541], [70540006, 70540101], [70540405, 70540471], [70541738, 70541914], [70550736, 70550879], [70550969, 70551093], [70553042, 70553076], [70554458, 70554633], [70570739, 70573147]] None
Promoter
Chrom Start End Description
chr8 70378852 70378866 CAGE_peak_3_at_SULF1_5end
chr8 70378873 70378887 CAGE_peak_7_at_SULF1_5end
chr8 70378936 70378956 CAGE_peak_5_at_SULF1_5end
chr8 70378989 70379039 CAGE_peak_2_at_SULF1_5end
chr8 70379043 70379054 CAGE_peak_6_at_SULF1_5end
chr8 70379072 70379089 CAGE_peak_4_at_SULF1_5end
chr8 70405073 70405088 CAGE_peak_1_at_SULF1_5end
chr8 70476061 70476087 CAGE_peak_12_at_SULF1_5end
chr8 70476088 70476102 CAGE_peak_21_at_SULF1_5end
chr8 70476218 70476290 CAGE_peak_9_at_SULF1_5end
chr8 70488248 70488262 CAGE_peak_8_at_SULF1_5end
chr8 70505133 70505138 CAGE_peak_45_at_SULF1_5end
chr8 70505170 70505177 CAGE_peak_46_at_SULF1_5end
chr8 70570755 70570781 CAGE_peak_10_at_SULF1_5end
chr8 70570976 70570995 CAGE_peak_11_at_SULF1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I069619 69619601 69619800 0.31 [{'connected_gene': 'SLCO5A1', 'score': 10.2}, {'connected_gene': 'LOC101929759', 'score': 10.2}, {'connected_gene': 'GC08M069668', 'score': 0.23}, {'connected_gene': 'SULF1', 'score': 0.1}]
chr8 GH08I069620 69620046 69620175 0.43 [{'connected_gene': 'SLCO5A1', 'score': 10.2}, {'connected_gene': 'LOC101929759', 'score': 10.2}, {'connected_gene': 'GC08M069668', 'score': 0.23}, {'connected_gene': 'SULF1', 'score': 0.1}]
chr8 GH08I069463 69463270 69464555 0.54 [{'connected_gene': 'SULF1', 'score': 0.77}, {'connected_gene': 'LINC01603', 'score': 0.37}]
chr8 GH08I069466 69465879 69465887 0.22 [{'connected_gene': 'SULF1', 'score': 550.77}, {'connected_gene': 'LINC01603', 'score': 0.37}]
chr8 GH08I069049 69049110 69049343 0.38 [{'connected_gene': 'SULF1', 'score': 1.4}, {'connected_gene': 'GC08M069031', 'score': 0.37}, {'connected_gene': 'LINC01592', 'score': 0.23}]
chr8 GH08I069465 69465976 69468400 1.8 [{'connected_gene': 'SULF1', 'score': 550.77}, {'connected_gene': 'GC08M069668', 'score': 0.08}]
chr8 GH08I069486 69486722 69489535 0.95 [{'connected_gene': 'SULF1', 'score': 11.78}, {'connected_gene': 'GC08M069668', 'score': 0.09}]
chr8 GH08I069468 69468801 69469000 0.38 [{'connected_gene': 'SULF1', 'score': 0.77}, {'connected_gene': 'GC08M069668', 'score': 0.08}]
chr8 GH08I069536 69536776 69537200 0.66 [{'connected_gene': 'SULF1', 'score': 0.19}, {'connected_gene': 'GC08M069668', 'score': 0.12}]
chr8 GH08I069495 69495496 69497846 0.2 [{'connected_gene': 'SULF1', 'score': 0.29}, {'connected_gene': 'GC08M069668', 'score': 0.09}]
chr8 GH08I069498 69498106 69498275 0.31 [{'connected_gene': 'SULF1', 'score': 0.29}, {'connected_gene': 'GC08M069668', 'score': 0.09}]
chr8 GH08I069491 69491453 69493892 1.57 [{'connected_gene': 'SULF1', 'score': 561.36}, {'connected_gene': 'GC08M069668', 'score': 0.1}]
chr8 GH08I069643 69643655 69644464 0.69 [{'connected_gene': 'RN7SKP29', 'score': 10.54}, {'connected_gene': 'SLCO5A1', 'score': 9.71}, {'connected_gene': 'LOC101929759', 'score': 9.71}, {'connected_gene': 'GC08M069668', 'score': 0.31}, {'connected_gene': 'SULF1', 'score': 0.1}]
chr8 GH08I069459 69459966 69461298 0.31 [{'connected_gene': 'RN7SKP29', 'score': 8.75}, {'connected_gene': 'SULF1', 'score': 0.44}, {'connected_gene': 'LINC01603', 'score': 0.39}]
chr8 GH08I069623 69623771 69625006 0.2 [{'connected_gene': 'RN7SKP29', 'score': 10.13}, {'connected_gene': 'GC08M069668', 'score': 0.25}, {'connected_gene': 'SULF1', 'score': 0.1}]
chr8 GH08I069639 69639254 69639898 0.31 [{'connected_gene': 'RN7SKP29', 'score': 10.53}, {'connected_gene': 'LOC101929759', 'score': 9.71}, {'connected_gene': 'SLCO5A1', 'score': 9.71}, {'connected_gene': 'GC08M069668', 'score': 0.29}, {'connected_gene': 'SULF1', 'score': 0.09}]
chr8 GH08I069130 69130143 69130544 0.28 [{'connected_gene': 'LOC100129096', 'score': 550.77}, {'connected_gene': 'SULF1', 'score': 4.77}, {'connected_gene': 'TRE-CTC14-1', 'score': 0.31}]
chr8 GH08I069120 69120383 69121489 0.53 [{'connected_gene': 'ENSG00000253373', 'score': 5.09}, {'connected_gene': 'SULF1', 'score': 5.09}, {'connected_gene': 'LOC100129096', 'score': 0.44}, {'connected_gene': 'RNU7-102P', 'score': 0.39}]
chr8 GH08I069597 69597186 69597335 0.56 [{'connected_gene': 'GC08M069668', 'score': 0.19}, {'connected_gene': 'SULF1', 'score': 0.12}]
chr8 GH08I069581 69581450 69583298 0.51 [{'connected_gene': 'GC08M069668', 'score': 0.17}, {'connected_gene': 'SULF1', 'score': 0.13}]
chr8 GH08I069663 69663716 69664200 0.83 [{'connected_gene': 'GC08M069668', 'score': 0.44}, {'connected_gene': 'SULF1', 'score': 0.08}]
chr8 GH08I069587 69587305 69589175 0.8 [{'connected_gene': 'GC08M069668', 'score': 0.18}, {'connected_gene': 'SULF1', 'score': 0.13}]
chr8 GH08I069447 69447551 69448374 0.43 [{'connected_gene': 'ENSG00000253216', 'score': 550.77}, {'connected_gene': 'LINC01603', 'score': 550.77}, {'connected_gene': 'SULF1', 'score': 5.12}]