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
ENST00000296255 [[128338816, 128339436], [128341006, 128341252], [128344376, 128344496], [128344716, 128344855], [128345575, 128345675], [128348793, 128348986], [128350790, 128351000], [128356641, 128356948], [128363761, 128363826], [128369382, 128369692]] [[128339253, 128339436], [128341006, 128341252], [128344376, 128344496], [128344716, 128344855], [128345575, 128345675], [128348793, 128348986], [128350790, 128351000], [128356641, 128356948], [128363761, 128363826], [128369382, 128369643]]
ENST00000497289 [[128339001, 128339436], [128341006, 128341252], [128344376, 128344496], [128344716, 128344855], [128345575, 128345675], [128348793, 128348986], [128350790, 128351000], [128356641, 128356948], [128363761, 128363826], [128399596, 128399918]] [[128339253, 128339436], [128341006, 128341252], [128344376, 128344496], [128344716, 128344855], [128345575, 128345675], [128348793, 128348986], [128350790, 128351000], [128356641, 128356758]]
ENST00000490166 [[128344816, 128344855], [128345575, 128346109]] None
ENST00000495462 [[128350963, 128351000], [128356641, 128356948], [128363761, 128363826], [128370215, 128370372]] None
ENST00000479113 [[128356662, 128356948], [128361135, 128361407]] None
ENST00000476931 [[128356880, 128356948], [128363377, 128363489], [128363761, 128363826], [128369382, 128369663]] [[128363449, 128363489], [128363761, 128363826], [128369382, 128369643]]
ENST00000497415 [[128359888, 128359977], [128363377, 128363493], [128363761, 128363826], [128369382, 128369659]] None
ENST00000481168 [[128363357, 128363826], [128369382, 128369664]] None
NM_002950 [[128338812, 128339436], [128341006, 128341252], [128344376, 128344496], [128344716, 128344855], [128345575, 128345675], [128348793, 128348986], [128350790, 128351000], [128356641, 128356948], [128363761, 128363826], [128369382, 128369719]] [[128339253, 128339436], [128341006, 128341252], [128344376, 128344496], [128344716, 128344855], [128345575, 128345675], [128348793, 128348986], [128350790, 128351000], [128356641, 128356948], [128363761, 128363826], [128369382, 128369643]]
Promoter
Chrom Start End Description
chr3 128369643 128369678 CAGE_peak_1_at_RPN1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I128768 128768496 128769503 0.2 [{'connected_gene': 'LOC653712', 'score': 7.99}, {'connected_gene': 'RAB7A', 'score': 7.4}, {'connected_gene': 'RPN1', 'score': 5.3}, {'connected_gene': 'FTH1P4', 'score': 0.77}, {'connected_gene': 'RN7SL698P', 'score': 0.37}]
chr3 GH03I128679 128679384 128682249 1.79 [{'connected_gene': 'RPN1', 'score': 550.77}, {'connected_gene': 'POU5F1P6', 'score': 16.48}, {'connected_gene': 'H1FX-AS1', 'score': 13.83}]
chr3 GH03I128648 128648593 128651798 2 [{'connected_gene': 'RPN1', 'score': 558.34}, {'connected_gene': 'POU5F1P6', 'score': 10.83}, {'connected_gene': 'ACAD9', 'score': 4.43}, {'connected_gene': 'PIR34480', 'score': 0.39}, {'connected_gene': 'ENSG00000277250', 'score': 0.34}]
chr3 GH03I129277 129277667 129280720 1.98 [{'connected_gene': 'HMCES', 'score': 579.85}, {'connected_gene': 'ISY1', 'score': 17.5}, {'connected_gene': 'MBD4', 'score': 16.66}, {'connected_gene': 'ENSG00000244932', 'score': 14.15}, {'connected_gene': 'RPL32P3', 'score': 12.77}, {'connected_gene': 'H1FX', 'score': 11.63}, {'connected_gene': 'RPS15AP16', 'score': 11.47}, {'connected_gene': 'CNBP', 'score': 10.63}, {'connected_gene': 'COPG1', 'score': 10.55}, {'connected_gene': 'RPN1', 'score': 9.75}, {'connected_gene': 'ACAD9', 'score': 6.89}, {'connected_gene': 'RAB7A', 'score': 4.09}, {'connected_gene': 'GC03M129283', 'score': 0.34}]
chr3 GH03I128877 128877729 128881374 2.11 [{'connected_gene': 'ACAD9', 'score': 573.47}, {'connected_gene': 'PIR50406', 'score': 550.77}, {'connected_gene': 'ENSG00000244932', 'score': 39.18}, {'connected_gene': 'RPL32P3', 'score': 38.41}, {'connected_gene': 'ISY1', 'score': 29.64}, {'connected_gene': 'H1FX', 'score': 20.52}, {'connected_gene': 'LOC653712', 'score': 17.08}, {'connected_gene': 'H1FX-AS1', 'score': 14.83}, {'connected_gene': 'MBD4', 'score': 14.02}, {'connected_gene': 'RPS15AP16', 'score': 11.61}, {'connected_gene': 'RUVBL1', 'score': 10.98}, {'connected_gene': 'EEFSEC', 'score': 10.83}, {'connected_gene': 'EFCC1', 'score': 10.7}, {'connected_gene': 'COPG1', 'score': 10.29}, {'connected_gene': 'RPN1', 'score': 9.8}, {'connected_gene': 'RAB7A', 'score': 7.74}]
chr3 GH03I128568 128568107 128569301 0.49 [{'connected_gene': 'DNAJB8-AS1', 'score': 11.32}, {'connected_gene': 'RPN1', 'score': 6.0}, {'connected_gene': 'LINC01565', 'score': 0.44}, {'connected_gene': 'TMED10P2', 'score': 0.29}]
chr3 GH03I128595 128595058 128596000 0.58 [{'connected_gene': 'DNAJB8-AS1', 'score': 11.95}, {'connected_gene': 'DNAJB8', 'score': 11.59}, {'connected_gene': 'RNU6-823P', 'score': 10.61}, {'connected_gene': 'RPN1', 'score': 6.65}, {'connected_gene': 'LINC01565', 'score': 0.37}, {'connected_gene': 'GC03P128663', 'score': 0.29}]
chr3 GH03I128616 128616167 128620958 1.45 [{'connected_gene': 'GP9', 'score': 19.4}, {'connected_gene': 'POU5F1P6', 'score': 13.21}, {'connected_gene': 'DNAJB8', 'score': 12.52}, {'connected_gene': 'RPN1', 'score': 8.46}, {'connected_gene': 'GATA2', 'score': 4.52}, {'connected_gene': 'RAB7A', 'score': 2.92}, {'connected_gene': 'KIAA1257', 'score': 1.84}, {'connected_gene': 'GC03P128663', 'score': 0.44}, {'connected_gene': 'LINC01565', 'score': 0.26}]
chr3 GH03I128590 128590996 128592807 1.19 [{'connected_gene': 'GATA2', 'score': 15.66}, {'connected_gene': 'DNAJB8', 'score': 13.3}, {'connected_gene': 'DNAJB8-AS1', 'score': 11.96}, {'connected_gene': 'RNU6-823P', 'score': 10.61}, {'connected_gene': 'RPN1', 'score': 7.96}, {'connected_gene': 'H1FX-AS1', 'score': 4.26}, {'connected_gene': 'RAB7A', 'score': 1.34}, {'connected_gene': 'LINC01565', 'score': 0.37}, {'connected_gene': 'GC03P128663', 'score': 0.28}]
chr3 GH03I128603 128603601 128604600 0.63 [{'connected_gene': 'LINC01565', 'score': 11.92}, {'connected_gene': 'DNAJB8-AS1', 'score': 11.78}, {'connected_gene': 'DNAJB8', 'score': 10.99}, {'connected_gene': 'POU5F1P6', 'score': 10.98}, {'connected_gene': 'RNU6-823P', 'score': 10.06}, {'connected_gene': 'RPN1', 'score': 7.53}, {'connected_gene': 'GC03P128663', 'score': 0.34}]
chr3 GH03I128547 128547113 128550527 1.18 [{'connected_gene': 'LINC01565', 'score': 13.03}, {'connected_gene': 'DNAJB8', 'score': 11.53}, {'connected_gene': 'DNAJB8-AS1', 'score': 10.75}, {'connected_gene': 'RPN1', 'score': 4.91}, {'connected_gene': 'TMED10P2', 'score': 0.39}]
chr3 GH03I128584 128584538 128584687 0.79 [{'connected_gene': 'DNAJB8', 'score': 11.0}, {'connected_gene': 'DNAJB8-AS1', 'score': 10.7}, {'connected_gene': 'RNU6-823P', 'score': 8.77}, {'connected_gene': 'RPN1', 'score': 6.32}, {'connected_gene': 'LINC01565', 'score': 0.44}, {'connected_gene': 'GC03P128663', 'score': 0.26}]
chr3 GH03I129178 129178341 129186747 2.27 [{'connected_gene': 'LOC105374101', 'score': 550.77}, {'connected_gene': 'CNBP', 'score': 550.77}, {'connected_gene': 'ENSG00000244932', 'score': 22.16}, {'connected_gene': 'RPL32P3', 'score': 21.62}, {'connected_gene': 'ISY1', 'score': 20.17}, {'connected_gene': 'MBD4', 'score': 14.06}, {'connected_gene': 'RPS15AP16', 'score': 11.48}, {'connected_gene': 'H1FX', 'score': 11.47}, {'connected_gene': 'H1FX-AS1', 'score': 10.91}, {'connected_gene': 'COPG1', 'score': 10.45}, {'connected_gene': 'RPN1', 'score': 9.75}, {'connected_gene': 'RAB7A', 'score': 5.61}, {'connected_gene': 'EFCC1', 'score': 4.16}, {'connected_gene': 'GC03M129158', 'score': 0.39}]
chr3 GH03I128798 128798785 128800031 0.43 [{'connected_gene': 'RPS15AP16', 'score': 550.77}, {'connected_gene': 'RPN1', 'score': 16.11}, {'connected_gene': 'LOC653712', 'score': 11.7}, {'connected_gene': 'ENSG00000250796', 'score': 11.7}, {'connected_gene': 'ENSG00000207130', 'score': 11.15}, {'connected_gene': 'RAB7A', 'score': 7.33}, {'connected_gene': 'PIR59714', 'score': 0.31}]
chr3 GH03I128796 128796537 128798253 0.2 [{'connected_gene': 'RPS15AP16', 'score': 550.77}, {'connected_gene': 'RPN1', 'score': 12.0}, {'connected_gene': 'ENSG00000207130', 'score': 11.15}, {'connected_gene': 'ACAD9', 'score': 11.03}, {'connected_gene': 'RAB7A', 'score': 7.33}, {'connected_gene': 'RN7SL698P', 'score': 0.39}]
chr3 GH03I128697 128697379 128699328 0.78 [{'connected_gene': 'POU5F1P6', 'score': 12.65}, {'connected_gene': 'RPN1', 'score': 5.52}, {'connected_gene': 'ACAD9', 'score': 5.01}, {'connected_gene': 'GC03P128723', 'score': 0.39}, {'connected_gene': 'GC03M128715', 'score': 0.37}, {'connected_gene': 'ENSG00000207130', 'score': 0.37}]
chr3 GH03I128653 128653401 128654800 0.79 [{'connected_gene': 'POU5F1P6', 'score': 12.8}, {'connected_gene': 'RPN1', 'score': 7.86}, {'connected_gene': 'PIR34480', 'score': 0.37}, {'connected_gene': 'ENSG00000277250', 'score': 0.37}]
chr3 GH03I128675 128675898 128676027 0.2 [{'connected_gene': 'POU5F1P6', 'score': 550.77}, {'connected_gene': 'ENSG00000277250', 'score': 550.77}, {'connected_gene': 'ENSG00000207130', 'score': 12.02}, {'connected_gene': 'RPN1', 'score': 0.44}]
chr3 GH03I128674 128674273 128675800 0.99 [{'connected_gene': 'POU5F1P6', 'score': 562.45}, {'connected_gene': 'ENSG00000277250', 'score': 550.77}, {'connected_gene': 'ENSG00000207130', 'score': 12.02}, {'connected_gene': 'RPN1', 'score': 0.44}]
chr3 GH03I128607 128607696 128609087 1.25 [{'connected_gene': 'POU5F1P6', 'score': 9.84}, {'connected_gene': 'GATA2', 'score': 6.16}, {'connected_gene': 'RPN1', 'score': 4.25}, {'connected_gene': 'GC03P128663', 'score': 0.37}, {'connected_gene': 'LINC01565', 'score': 0.29}]
chr3 GH03I128623 128623518 128624107 0.38 [{'connected_gene': 'POU5F1P6', 'score': 13.44}, {'connected_gene': 'GC03P128663', 'score': 0.77}, {'connected_gene': 'LINC01565', 'score': 0.25}, {'connected_gene': 'RPN1', 'score': 0.22}]
chr3 GH03I128671 128671270 128671495 0.69 [{'connected_gene': 'ENSG00000207130', 'score': 12.0}, {'connected_gene': 'RAB7A', 'score': 6.57}, {'connected_gene': 'DNAJB8', 'score': 1.87}, {'connected_gene': 'LINC01565', 'score': 1.86}, {'connected_gene': 'ENSG00000277250', 'score': 0.77}, {'connected_gene': 'RPN1', 'score': 0.44}, {'connected_gene': 'PIR34480', 'score': 0.29}]
chr3 GH03I128845 128845025 128847013 1.47 [{'connected_gene': 'PIR33616', 'score': 550.77}, {'connected_gene': 'GC03P129761', 'score': 550.77}, {'connected_gene': 'PIR31091', 'score': 550.77}, {'connected_gene': 'GC03M128926', 'score': 550.77}, {'connected_gene': 'GC03M128907', 'score': 550.77}, {'connected_gene': 'PIR39381', 'score': 550.77}, {'connected_gene': 'GC03P129778', 'score': 550.77}, {'connected_gene': 'GC03M128927', 'score': 550.77}, {'connected_gene': 'GC03P129745', 'score': 550.77}, {'connected_gene': 'PIR40735', 'score': 550.77}, {'connected_gene': 'PIR50684', 'score': 550.77}, {'connected_gene': 'PIR40509', 'score': 550.77}, {'connected_gene': 'PIR60654', 'score': 550.77}, {'connected_gene': 'PIR49019', 'score': 550.77}, {'connected_gene': 'PIR34433', 'score': 550.77}, {'connected_gene': 'PIR46908', 'score': 550.77}, {'connected_gene': 'GC03M128929', 'score': 550.77}, {'connected_gene': 'PIR61690', 'score': 550.77}, {'connected_gene': 'PIR59919', 'score': 550.77}, {'connected_gene': 'GC03P129779', 'score': 550.77}, {'connected_gene': 'PIR48549', 'score': 550.77}, {'connected_gene': 'PIR62781', 'score': 550.77}, {'connected_gene': 'PIR50086', 'score': 550.77}, {'connected_gene': 'PIR59776', 'score': 550.77}, {'connected_gene': 'GC03P129777', 'score': 550.77}, {'connected_gene': 'PIR36202', 'score': 550.77}, {'connected_gene': 'MARK2P17', 'score': 550.77}, {'connected_gene': 'GC03P129758', 'score': 550.77}, {'connected_gene': 'PIR47496', 'score': 550.77}, {'connected_gene': 'PIR58446', 'score': 550.77}, {'connected_gene': 'GC03P129750', 'score': 550.77}, {'connected_gene': 'ACAD9', 'score': 30.29}, {'connected_gene': 'LOC653712', 'score': 13.15}, {'connected_gene': 'ENSG00000207130', 'score': 10.18}, {'connected_gene': 'RAB7A', 'score': 7.79}, {'connected_gene': 'LOC100421508', 'score': 6.55}, {'connected_gene': 'GATA2-AS1', 'score': 4.84}, {'connected_gene': 'RPN1', 'score': 4.58}, {'connected_gene': 'KIAA1257', 'score': 1.76}, {'connected_gene': 'DNAJB8', 'score': 1.2}]

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