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
ENST00000238823 [[33808724, 33810511], [33810596, 33810764], [33811628, 33811745], [33812306, 33812387], [33813401, 33813586], [33817146, 33817281], [33820555, 33820704], [33824235, 33824429]] [[33809842, 33810511], [33810596, 33810764], [33811628, 33811745], [33812306, 33812387], [33813401, 33813586], [33817146, 33817281], [33820555, 33820704], [33824235, 33824288]]
ENST00000403368 [[33808736, 33810764], [33811628, 33811745], [33812306, 33812387], [33813401, 33813586], [33817146, 33817281], [33820555, 33820704], [33824235, 33824358]] [[33810545, 33810764], [33811628, 33811745], [33812306, 33812387], [33813401, 33813586], [33817146, 33817281], [33820555, 33820704], [33824235, 33824288]]
ENST00000441530 [[33809745, 33810511], [33810596, 33810764], [33811628, 33811745], [33812306, 33812387], [33817146, 33817281], [33820555, 33820704], [33824235, 33824358]] [[33809842, 33810511], [33810596, 33810764], [33811628, 33811745], [33812306, 33812324]]
ENST00000498340 [[33811737, 33811745], [33812306, 33812387], [33817146, 33817281], [33820555, 33820704], [33824235, 33824351]] None
ENST00000474985 [[33808728, 33810511], [33810596, 33810764], [33812306, 33812387], [33813401, 33814915]] None
ENST00000475122 [[33809955, 33810511], [33810596, 33810764], [33811628, 33811936]] None
ENST00000492649 [[33810680, 33810764], [33811628, 33811745], [33812306, 33812708]] None
ENST00000464415 [[33816989, 33817281], [33820555, 33820704], [33824235, 33824449]] None
ENST00000431950 [[33820553, 33820704], [33824235, 33824344]] [[33820553, 33820704], [33824235, 33824288]]
NM_015475 [[33808727, 33810511], [33810596, 33810764], [33811628, 33811745], [33812306, 33812387], [33813401, 33813586], [33817146, 33817281], [33820555, 33820704], [33824235, 33824429]] [[33809842, 33810511], [33810596, 33810764], [33811628, 33811745], [33812306, 33812387], [33813401, 33813586], [33817146, 33817281], [33820555, 33820704], [33824235, 33824288]]
NM_001304538 [[33808727, 33810511], [33810596, 33810764], [33811628, 33811745], [33812306, 33812387], [33817146, 33817281], [33820555, 33820704], [33824235, 33824429]] [[33809842, 33810511], [33810596, 33810764], [33811628, 33811745], [33812306, 33812324]]
Promoter
Chrom Start End Description
chr2 33824285 33824308 CAGE_peak_2_at_FAM98A_5end
chr2 33824309 33824326 CAGE_peak_3_at_FAM98A_5end
chr2 33824336 33824378 CAGE_peak_1_at_FAM98A_5end
chr2 33824382 33824389 CAGE_peak_4_at_FAM98A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I033157 33157211 33160995 1.14 [{'connected_gene': 'LTBP1', 'score': 56.49}, {'connected_gene': 'FAM98A', 'score': 1.57}, {'connected_gene': 'GC02P033183', 'score': 0.34}, {'connected_gene': 'TYW1P1', 'score': 0.26}]
chr2 GH02I033209 33209031 33217435 1.51 [{'connected_gene': 'LTBP1', 'score': 42.87}, {'connected_gene': 'FAM98A', 'score': 3.25}, {'connected_gene': 'GC02P033183', 'score': 0.31}, {'connected_gene': 'GC02M033258', 'score': 0.25}]
chr2 GH02I033607 33606452 33608308 0.52 [{'connected_gene': 'FAM98A', 'score': 17.35}, {'connected_gene': 'RASGRP3', 'score': 6.58}, {'connected_gene': 'GC02P033602', 'score': 0.44}, {'connected_gene': 'LOC105374455', 'score': 0.44}, {'connected_gene': 'GC02P033593', 'score': 0.39}, {'connected_gene': 'HNRNPA1P61', 'score': 0.31}]
chr2 GH02I034103 34103747 34106550 0.76 [{'connected_gene': 'FAM98A', 'score': 4.58}, {'connected_gene': 'GC02P034077', 'score': 0.31}, {'connected_gene': 'LOC105374457', 'score': 0.07}, {'connected_gene': 'LINC01317', 'score': 0.05}]
chr2 GH02I033597 33597540 33600207 2.27 [{'connected_gene': 'FAM98A', 'score': 563.14}, {'connected_gene': 'LOC105374455', 'score': 550.77}, {'connected_gene': 'RASGRP3', 'score': 2.11}, {'connected_gene': 'GC02P033593', 'score': 0.44}]
chr2 GH02I033491 33491523 33500529 1.22 [{'connected_gene': 'FAM98A', 'score': 11.4}, {'connected_gene': 'ATP6V0E1P3', 'score': 11.39}, {'connected_gene': 'LOC105374454', 'score': 10.86}, {'connected_gene': 'RASGRP3', 'score': 0.22}]
chr2 GH02I033582 33582637 33584303 0.82 [{'connected_gene': 'FAM98A', 'score': 15.15}, {'connected_gene': 'GC02P033576', 'score': 0.44}, {'connected_gene': 'GC02P033593', 'score': 0.39}]
chr2 GH02I033500 33500883 33518384 0.56 [{'connected_gene': 'RASGRP3', 'score': 16.81}, {'connected_gene': 'LOC105374454', 'score': 11.11}, {'connected_gene': 'FAM98A', 'score': 10.15}, {'connected_gene': 'ATP6V0E1P3', 'score': 10.14}]
chr2 GH02I033561 33561940 33565550 0.31 [{'connected_gene': 'LOC105374454', 'score': 550.77}, {'connected_gene': 'RASGRP3', 'score': 10.11}, {'connected_gene': 'FAM98A', 'score': 6.37}, {'connected_gene': 'PIR57031', 'score': 0.44}]
chr2 GH02I033602 33602103 33604143 0.31 [{'connected_gene': 'GC02P033602', 'score': 550.77}, {'connected_gene': 'ATP6V0E1P3', 'score': 550.77}, {'connected_gene': 'FAM98A', 'score': 14.68}, {'connected_gene': 'RASGRP3', 'score': 6.57}, {'connected_gene': 'LOC105374455', 'score': 0.77}, {'connected_gene': 'GC02P033593', 'score': 0.44}, {'connected_gene': 'HNRNPA1P61', 'score': 0.29}]

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