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
ENST00000545145 [[114254546, 114255991], [114261013, 114261126], [114282472, 114282593], [114296595, 114296701], [114352773, 114352890], [114356196, 114356252], [114358415, 114358495], [114362501, 114362562], [114364858, 114365034], [114374811, 114374941], [114377764, 114377965], [114380128, 114380239], [114383632, 114383729], [114384158, 114384280], [114385138, 114385269], [114386637, 114386841], [114387887, 114387959], [114390316, 114390395], [114392935, 114393016], [114395586, 114395855], [114397016, 114397209], [114397669, 114397708], [114397863, 114397983], [114400036, 114400219], [114403996, 114404111]] [[114261028, 114261126], [114282472, 114282593], [114296595, 114296701], [114352773, 114352890], [114356196, 114356252], [114358415, 114358495], [114362501, 114362562], [114364858, 114365034], [114374811, 114374941], [114377764, 114377965], [114380128, 114380239], [114383632, 114383729], [114384158, 114384280], [114385138, 114385269], [114386637, 114386841], [114387887, 114387959], [114390316, 114390395], [114392935, 114393016], [114395586, 114395855], [114397016, 114397209], [114397669, 114397708], [114397863, 114397983], [114400036, 114400219], [114403996, 114404032]]
ENST00000392561 [[114259861, 114260451], [114261013, 114261126], [114282472, 114282593], [114296595, 114296701], [114352773, 114352890], [114356196, 114356252], [114358415, 114358495], [114362501, 114362562], [114364858, 114365034], [114374811, 114374941], [114377764, 114377965], [114380128, 114380239], [114383632, 114383729], [114384158, 114384280], [114385138, 114385269], [114386637, 114386841], [114387887, 114387959], [114390316, 114390395], [114392935, 114393016], [114395586, 114395855], [114397016, 114397209], [114397669, 114397708], [114397863, 114397983], [114400036, 114400219], [114403996, 114404115]] [[114261028, 114261126], [114282472, 114282593], [114296595, 114296701], [114352773, 114352890], [114356196, 114356252], [114358415, 114358495], [114362501, 114362562], [114364858, 114365034], [114374811, 114374941], [114377764, 114377965], [114380128, 114380239], [114383632, 114383729], [114384158, 114384280], [114385138, 114385269], [114386637, 114386841], [114387887, 114387959], [114390316, 114390395], [114392935, 114393016], [114395586, 114395855], [114397016, 114397209], [114397669, 114397708], [114397863, 114397983], [114400036, 114400219], [114403996, 114404032]]
ENST00000261741 [[114259861, 114261126], [114282472, 114282593], [114296595, 114296701], [114352773, 114352890], [114356196, 114356252], [114358415, 114358495], [114362501, 114362562], [114364858, 114365034], [114374811, 114374941], [114377764, 114377965], [114380128, 114380239], [114383632, 114383729], [114384158, 114384280], [114385138, 114385269], [114386637, 114386841], [114387887, 114387959], [114390316, 114390395], [114392935, 114393016], [114395586, 114395855], [114397016, 114397209], [114397669, 114397708], [114397863, 114397983], [114400036, 114400219], [114403996, 114404176]] [[114261028, 114261126], [114282472, 114282593], [114296595, 114296701], [114352773, 114352890], [114356196, 114356252], [114358415, 114358495], [114362501, 114362562], [114364858, 114365034], [114374811, 114374941], [114377764, 114377965], [114380128, 114380239], [114383632, 114383729], [114384158, 114384280], [114385138, 114385269], [114386637, 114386841], [114387887, 114387959], [114390316, 114390395], [114392935, 114393016], [114395586, 114395855], [114397016, 114397209], [114397669, 114397708], [114397863, 114397983], [114400036, 114400219], [114403996, 114404032]]
ENST00000552384 [[114260491, 114260612], [114260894, 114261126], [114282472, 114282593], [114296595, 114296709]] [[114261028, 114261126], [114282472, 114282593], [114296595, 114296709]]
ENST00000553232 [[114254542, 114255730], [114255907, 114255984]] None
ENST00000552386 [[114352773, 114352890], [114356196, 114356252], [114358415, 114358495], [114362501, 114362562], [114364858, 114365236]] None
ENST00000546876 [[114395667, 114395855], [114397669, 114397708], [114397863, 114397983], [114400036, 114400219], [114403940, 114404014]] None
NM_001146699 [[114254542, 114255991], [114261013, 114261126], [114282472, 114282593], [114296595, 114296701], [114352773, 114352890], [114356196, 114356252], [114358415, 114358495], [114362501, 114362562], [114364858, 114365034], [114374811, 114374941], [114377764, 114377965], [114380128, 114380239], [114383632, 114383729], [114384158, 114384280], [114385138, 114385269], [114386637, 114386841], [114387887, 114387959], [114390316, 114390395], [114392935, 114393016], [114395586, 114395855], [114397016, 114397209], [114397669, 114397708], [114397863, 114397983], [114400036, 114400219], [114403996, 114404176]] [[114261028, 114261126], [114282472, 114282593], [114296595, 114296701], [114352773, 114352890], [114356196, 114356252], [114358415, 114358495], [114362501, 114362562], [114364858, 114365034], [114374811, 114374941], [114377764, 114377965], [114380128, 114380239], [114383632, 114383729], [114384158, 114384280], [114385138, 114385269], [114386637, 114386841], [114387887, 114387959], [114390316, 114390395], [114392935, 114393016], [114395586, 114395855], [114397016, 114397209], [114397669, 114397708], [114397863, 114397983], [114400036, 114400219], [114403996, 114404032]]
NM_016196 [[114259858, 114261126], [114282472, 114282593], [114296595, 114296701], [114352773, 114352890], [114356196, 114356252], [114358415, 114358495], [114362501, 114362562], [114364858, 114365034], [114374811, 114374941], [114377764, 114377965], [114380128, 114380239], [114383632, 114383729], [114384158, 114384280], [114385138, 114385269], [114386637, 114386841], [114387887, 114387959], [114390316, 114390395], [114392935, 114393016], [114395586, 114395855], [114397016, 114397209], [114397669, 114397708], [114397863, 114397983], [114400036, 114400219], [114403996, 114404176]] [[114261028, 114261126], [114282472, 114282593], [114296595, 114296701], [114352773, 114352890], [114356196, 114356252], [114358415, 114358495], [114362501, 114362562], [114364858, 114365034], [114374811, 114374941], [114377764, 114377965], [114380128, 114380239], [114383632, 114383729], [114384158, 114384280], [114385138, 114385269], [114386637, 114386841], [114387887, 114387959], [114390316, 114390395], [114392935, 114393016], [114395586, 114395855], [114397016, 114397209], [114397669, 114397708], [114397863, 114397983], [114400036, 114400219], [114403996, 114404032]]
NM_001146698 [[114259858, 114260451], [114261013, 114261126], [114282472, 114282593], [114296595, 114296701], [114352773, 114352890], [114356196, 114356252], [114358415, 114358495], [114362501, 114362562], [114364858, 114365034], [114374811, 114374941], [114377764, 114377965], [114380128, 114380239], [114383632, 114383729], [114384158, 114384280], [114385138, 114385269], [114386637, 114386841], [114387887, 114387959], [114390316, 114390395], [114392935, 114393016], [114395586, 114395855], [114397016, 114397209], [114397669, 114397708], [114397863, 114397983], [114400036, 114400219], [114403996, 114404176]] [[114261028, 114261126], [114282472, 114282593], [114296595, 114296701], [114352773, 114352890], [114356196, 114356252], [114358415, 114358495], [114362501, 114362562], [114364858, 114365034], [114374811, 114374941], [114377764, 114377965], [114380128, 114380239], [114383632, 114383729], [114384158, 114384280], [114385138, 114385269], [114386637, 114386841], [114387887, 114387959], [114390316, 114390395], [114392935, 114393016], [114395586, 114395855], [114397016, 114397209], [114397669, 114397708], [114397863, 114397983], [114400036, 114400219], [114403996, 114404032]]
Promoter
Chrom Start End Description
chr12 114404090 114404099 CAGE_peak_2_at_RBM19_5end
chr12 114404118 114404153 CAGE_peak_1_at_RBM19_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I113261 113261711 113264255 1.17 [{'connected_gene': 'RBM19', 'score': 12.9}, {'connected_gene': 'RITA1', 'score': 11.91}, {'connected_gene': 'GC12M113256', 'score': 0.44}, {'connected_gene': 'ENSG00000277566', 'score': 0.39}, {'connected_gene': 'TPCN1', 'score': 0.26}]
chr12 GH12I113119 113119139 113121697 0.63 [{'connected_gene': 'RBM19', 'score': 13.63}, {'connected_gene': 'RASAL1', 'score': 8.1}, {'connected_gene': 'GC12P113070', 'score': 0.23}]
chr12 GH12I113153 113152676 113152745 0.77 [{'connected_gene': 'RBM19', 'score': 12.15}, {'connected_gene': 'ENSG00000201208', 'score': 11.69}, {'connected_gene': 'DDX54', 'score': 11.67}, {'connected_gene': 'RITA1', 'score': 11.67}, {'connected_gene': 'CFAP73', 'score': 0.77}, {'connected_gene': 'ENSG00000199899', 'score': 0.77}, {'connected_gene': 'GC12M113158', 'score': 0.77}]
chr12 GH12I113152 113152856 113153525 1.62 [{'connected_gene': 'RBM19', 'score': 12.9}, {'connected_gene': 'ENSG00000201208', 'score': 11.69}, {'connected_gene': 'DDX54', 'score': 11.67}, {'connected_gene': 'RITA1', 'score': 11.67}, {'connected_gene': 'CFAP73', 'score': 0.77}, {'connected_gene': 'ENSG00000199899', 'score': 0.77}, {'connected_gene': 'GC12M113158', 'score': 0.77}]
chr12 GH12I113303 113303016 113303185 0.66 [{'connected_gene': 'RBM19', 'score': 20.53}, {'connected_gene': 'DDX54', 'score': 9.92}, {'connected_gene': 'RASAL1', 'score': 8.13}, {'connected_gene': 'GC12P113300', 'score': 0.77}, {'connected_gene': 'GC12M113308', 'score': 0.39}, {'connected_gene': 'SLC8B1', 'score': 0.22}]
chr12 GH12I113127 113127566 113128817 0.87 [{'connected_gene': 'RBM19', 'score': 43.76}, {'connected_gene': 'DDX54', 'score': 18.36}, {'connected_gene': 'RPL6', 'score': 13.71}, {'connected_gene': 'RASAL1', 'score': 12.13}, {'connected_gene': 'SLC8B1', 'score': 12.05}, {'connected_gene': 'GC12P113070', 'score': 0.22}]
chr12 GH12I113439 113439676 113439805 0.66 [{'connected_gene': 'RBM19', 'score': 14.35}, {'connected_gene': 'TPCN1', 'score': 11.04}, {'connected_gene': 'SDS', 'score': 0.39}, {'connected_gene': 'LHX5-AS1', 'score': 0.29}]
chr12 GH12I114450 114450875 114452960 0.52 [{'connected_gene': 'RBM19', 'score': 10.89}, {'connected_gene': 'GC12M114445', 'score': 0.77}, {'connected_gene': 'RN7SKP216', 'score': 0.23}]
chr12 GH12I114697 114697456 114699063 0.79 [{'connected_gene': 'RBM19', 'score': 13.72}, {'connected_gene': 'GC12P114686', 'score': 0.39}, {'connected_gene': 'LOC105370000', 'score': 0.37}]
chr12 GH12I113463 113463496 113463605 0.46 [{'connected_gene': 'RBM19', 'score': 14.32}, {'connected_gene': 'LHX5-AS1', 'score': 0.44}, {'connected_gene': 'LHX5', 'score': 0.44}, {'connected_gene': 'SDS', 'score': 0.28}]
chr12 GH12I114935 114935698 114937409 0.74 [{'connected_gene': 'RBM19', 'score': 18.45}, {'connected_gene': 'ENSG00000274879', 'score': 0.44}, {'connected_gene': 'LOC102723639', 'score': 0.18}]
chr12 GH12I113961 113961706 113963624 0.75 [{'connected_gene': 'RBM19', 'score': 0.77}, {'connected_gene': 'TRE-CTC16-1', 'score': 0.39}]
chr12 GH12I113965 113965200 113967082 2.04 [{'connected_gene': 'RBM19', 'score': 569.19}, {'connected_gene': 'TRE-CTC16-1', 'score': 0.37}]
chr12 GH12I113587 113587274 113588827 0.54 [{'connected_gene': 'RBM19', 'score': 14.34}, {'connected_gene': 'GC12M113580', 'score': 0.39}, {'connected_gene': 'GC12M113572', 'score': 0.37}]
chr12 GH12I113874 113874637 113876421 0.6 [{'connected_gene': 'RBM19', 'score': 11.59}, {'connected_gene': 'GC12P113854', 'score': 0.34}, {'connected_gene': 'GC12P113919', 'score': 0.26}]
chr12 GH12I114902 114902676 114904877 1.08 [{'connected_gene': 'RBM19', 'score': 69.9}, {'connected_gene': 'ENSG00000283459', 'score': 0.44}, {'connected_gene': 'GC12M114910', 'score': 0.34}]
chr12 GH12I113860 113860007 113864096 1.03 [{'connected_gene': 'RBM19', 'score': 13.15}, {'connected_gene': 'GC12P113854', 'score': 0.44}, {'connected_gene': 'GC12P113919', 'score': 0.22}]
chr12 GH12I114913 114913899 114915047 0.98 [{'connected_gene': 'RBM19', 'score': 45.54}, {'connected_gene': 'GC12M114910', 'score': 0.39}, {'connected_gene': 'ENSG00000283459', 'score': 0.37}]
chr12 GH12I113226 113226199 113234312 1.73 [{'connected_gene': 'RITA1', 'score': 24.24}, {'connected_gene': 'RBM19', 'score': 12.15}, {'connected_gene': 'DDX54', 'score': 11.55}, {'connected_gene': 'ENSG00000201208', 'score': 11.52}, {'connected_gene': 'IQCD', 'score': 2.8}, {'connected_gene': 'TPCN1', 'score': 2.65}, {'connected_gene': 'DTX1', 'score': 1.39}, {'connected_gene': 'ENSG00000277566', 'score': 0.37}]
chr12 GH12I113183 113183796 113187512 2.09 [{'connected_gene': 'RITA1', 'score': 563.38}, {'connected_gene': 'DDX54', 'score': 560.78}, {'connected_gene': 'HECTD4', 'score': 26.35}, {'connected_gene': 'RBM19', 'score': 23.1}, {'connected_gene': 'RPL6', 'score': 13.7}, {'connected_gene': 'SLC8B1', 'score': 12.07}, {'connected_gene': 'CFAP73', 'score': 11.1}, {'connected_gene': 'DYNLL1P4', 'score': 10.28}, {'connected_gene': 'GC12M113186', 'score': 0.77}, {'connected_gene': 'ENSG00000257286', 'score': 0.44}]
chr12 GH12I113333 113333363 113335765 1.98 [{'connected_gene': 'SLC8B1', 'score': 561.95}, {'connected_gene': 'RBM19', 'score': 34.55}, {'connected_gene': 'PLBD2', 'score': 12.05}, {'connected_gene': 'RPL6', 'score': 10.12}, {'connected_gene': 'GC12M113308', 'score': 0.37}]
chr12 GH12I114663 114663952 114689575 3.13 [{'connected_gene': 'TBX3', 'score': 558.33}, {'connected_gene': 'RBM19', 'score': 66.64}, {'connected_gene': 'LOC105370000', 'score': 6.28}, {'connected_gene': 'GC12M114672', 'score': 0.77}, {'connected_gene': 'GC12P114687', 'score': 0.44}, {'connected_gene': 'GC12P114686', 'score': 0.44}, {'connected_gene': 'PIR34512', 'score': 0.44}, {'connected_gene': 'GC12P114684', 'score': 0.44}]
chr12 GH12I113896 113896296 113896445 0.43 [{'connected_gene': 'LHX5', 'score': 10.42}, {'connected_gene': 'GC12P113919', 'score': 0.34}, {'connected_gene': 'GC12P113854', 'score': 0.26}, {'connected_gene': 'RBM19', 'score': 0.19}]
chr12 GH12I113912 113912816 113912965 0.62 [{'connected_gene': 'LHX5', 'score': 10.46}, {'connected_gene': 'SDSL', 'score': 10.04}, {'connected_gene': 'GC12P113919', 'score': 0.44}, {'connected_gene': 'RBM19', 'score': 0.23}, {'connected_gene': 'GC12P113854', 'score': 0.22}]
chr12 GH12I113220 113220237 113224478 2.53 [{'connected_gene': 'TPCN1', 'score': 552.58}, {'connected_gene': 'IQCD', 'score': 550.77}, {'connected_gene': 'RITA1', 'score': 24.18}, {'connected_gene': 'RASAL1', 'score': 13.18}, {'connected_gene': 'DDX54', 'score': 11.55}, {'connected_gene': 'ENSG00000201208', 'score': 11.54}, {'connected_gene': 'RBM19', 'score': 10.47}, {'connected_gene': 'ENSG00000277566', 'score': 0.31}]
chr12 GH12I113356 113356590 113360621 2.24 [{'connected_gene': 'PLBD2', 'score': 579.24}, {'connected_gene': 'SLC8B1', 'score': 558.54}, {'connected_gene': 'RBM19', 'score': 26.3}, {'connected_gene': 'SDSL', 'score': 20.86}, {'connected_gene': 'RITA1', 'score': 10.66}, {'connected_gene': 'DDX54', 'score': 10.66}, {'connected_gene': 'ENSG00000201208', 'score': 10.65}, {'connected_gene': 'RPL6', 'score': 10.13}, {'connected_gene': 'SDS', 'score': 1.43}, {'connected_gene': 'LOC105369989', 'score': 0.77}]
chr12 GH12I113415 113415696 113416871 1.06 [{'connected_gene': 'SDSL', 'score': 20.24}, {'connected_gene': 'RBM19', 'score': 18.45}, {'connected_gene': 'RPL6', 'score': 10.12}, {'connected_gene': 'SDS', 'score': 0.39}, {'connected_gene': 'LOC105369989', 'score': 0.22}]
chr12 GH12I113421 113421256 113423684 2.03 [{'connected_gene': 'SDSL', 'score': 569.81}, {'connected_gene': 'RBM19', 'score': 29.37}, {'connected_gene': 'PLBD2', 'score': 10.92}, {'connected_gene': 'SLC8B1', 'score': 10.38}, {'connected_gene': 'SDS', 'score': 0.77}]
chr12 GH12I113772 113772702 113774245 0.92 [{'connected_gene': 'LINC01234', 'score': 550.77}, {'connected_gene': 'RBM19', 'score': 18.51}, {'connected_gene': 'GC12M113726', 'score': 0.25}, {'connected_gene': 'GC12M113725', 'score': 0.25}]
chr12 GH12I113818 113818956 113819065 0.54 [{'connected_gene': 'DYNLL1P4', 'score': 0.31}, {'connected_gene': 'GC12M113843', 'score': 0.31}, {'connected_gene': 'RBM19', 'score': 0.11}]
chr12 GH12I114655 114655082 114659783 1.4 [{'connected_gene': 'ENSG00000199220', 'score': 550.77}, {'connected_gene': 'GC12M114659', 'score': 550.77}, {'connected_gene': 'RBM19', 'score': 41.15}, {'connected_gene': 'TBX3', 'score': 11.66}, {'connected_gene': 'GC12M114639', 'score': 0.37}]
chr12 GH12I113931 113931960 113934251 1.57 [{'connected_gene': 'ENSG00000257359', 'score': 550.77}, {'connected_gene': 'RBM19', 'score': 17.1}, {'connected_gene': 'TRE-CTC16-1', 'score': 0.37}]
chr12 GH12I113902 113902899 113904601 0.49 [{'connected_gene': 'GC12P113919', 'score': 0.37}, {'connected_gene': 'GC12P113854', 'score': 0.25}, {'connected_gene': 'RBM19', 'score': 0.21}]
chr12 GH12I113899 113899283 113900685 0.59 [{'connected_gene': 'GC12P113919', 'score': 0.37}, {'connected_gene': 'GC12P113854', 'score': 0.25}, {'connected_gene': 'RBM19', 'score': 0.2}]
chr12 GH12I113888 113888689 113889989 0.43 [{'connected_gene': 'GC12P113919', 'score': 0.29}, {'connected_gene': 'GC12P113854', 'score': 0.29}, {'connected_gene': 'RBM19', 'score': 0.18}]
chr12 GH12I113850 113850204 113851006 0.38 [{'connected_gene': 'GC12P113854', 'score': 0.77}, {'connected_gene': 'GC12M113843', 'score': 0.77}, {'connected_gene': 'RBM19', 'score': 0.13}]
chr12 GH12I113270 113270881 113273195 1.51 [{'connected_gene': 'GC12M113256', 'score': 550.77}, {'connected_gene': 'SDSL', 'score': 19.16}, {'connected_gene': 'RASAL1', 'score': 13.23}, {'connected_gene': 'RITA1', 'score': 11.9}, {'connected_gene': 'SLC8B1', 'score': 10.88}, {'connected_gene': 'RBM19', 'score': 9.7}, {'connected_gene': 'OAS2', 'score': 3.59}, {'connected_gene': 'OAS3', 'score': 3.12}, {'connected_gene': 'OAS1', 'score': 2.39}, {'connected_gene': 'PLBD2', 'score': 1.53}, {'connected_gene': 'SDS', 'score': 1.28}, {'connected_gene': 'GC12P113288', 'score': 0.37}, {'connected_gene': 'TPCN1', 'score': 0.23}]
chr12 GH12I113825 113825836 113825965 0.38 [{'connected_gene': 'GC12M113843', 'score': 0.34}, {'connected_gene': 'DYNLL1P4', 'score': 0.28}, {'connected_gene': 'RBM19', 'score': 0.11}]

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