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
ENST00000530749 [[110045604, 110045959], [110052516, 110052563], [110070305, 110070403], [110102597, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118558], [110124670, 110124834], [110126013, 110126110], [110128491, 110128638], [110128830, 110128914], [110134684, 110134959], [110135503, 110135599], [110143260, 110143344], [110150405, 110150481], [110167191, 110167437]] [[110070336, 110070403], [110102597, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118558], [110124670, 110124834], [110126013, 110126110], [110128491, 110128638], [110128830, 110128914], [110134684, 110134959], [110135503, 110135599], [110143260, 110143344], [110150405, 110150417]]
ENST00000528498 [[110045604, 110045959], [110070305, 110070403], [110102597, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118558], [110124670, 110124834], [110126013, 110126110], [110128491, 110128638], [110128830, 110128914], [110134684, 110134959], [110135503, 110135599], [110143260, 110143344], [110150405, 110150481], [110167191, 110167437]] [[110070336, 110070403], [110102597, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118558], [110124670, 110124834], [110126013, 110126110], [110128491, 110128638], [110128830, 110128914], [110134684, 110134959], [110135503, 110135599], [110143260, 110143344], [110150405, 110150417]]
ENST00000528900 [[110066285, 110066890], [110070305, 110070403], [110102597, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118558], [110150405, 110150481], [110167191, 110167437]] [[110070336, 110070403], [110102597, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118476]]
ENST00000405097 [[110066285, 110066890], [110070305, 110070403], [110102597, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118558], [110124670, 110124834], [110126013, 110126110], [110128491, 110128638], [110128830, 110128914], [110134684, 110134959], [110135503, 110135599], [110143260, 110143344], [110150405, 110150481], [110167191, 110167437]] [[110070336, 110070403], [110102597, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118558], [110124670, 110124834], [110126013, 110126110], [110128491, 110128638], [110128830, 110128914], [110134684, 110134959], [110135503, 110135599], [110143260, 110143344], [110150405, 110150417]]
ENST00000530301 [[110066285, 110066890], [110070305, 110070403], [110102597, 110102729], [110128881, 110128914], [110134684, 110134959], [110143260, 110143344], [110150405, 110150481], [110167191, 110167437]] [[110070336, 110070403], [110102597, 110102729], [110128881, 110128914], [110134684, 110134959], [110143260, 110143344], [110150405, 110150417]]
ENST00000527537 [[110100171, 110102758], [110103961, 110104204], [110106823, 110107396]] None
ENST00000532461 [[110100174, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108582]] None
ENST00000343115 [[110100174, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118558], [110124670, 110124834], [110126013, 110126110], [110128491, 110128638], [110128830, 110128914], [110134684, 110134959], [110135503, 110135599], [110143260, 110143344], [110150405, 110150481], [110167191, 110167447]] [[110102593, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118558], [110124670, 110124834], [110126013, 110126110], [110128491, 110128638], [110128830, 110128914], [110134684, 110134959], [110135503, 110135599], [110143260, 110143344], [110150405, 110150417]]
ENST00000533961 [[110102274, 110102758], [110103961, 110104248]] None
ENST00000544551 [[110102275, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118558], [110124670, 110124834], [110126013, 110126110], [110128491, 110128638], [110128830, 110128914], [110143260, 110143344], [110150405, 110150443]] [[110102593, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118558], [110124670, 110124834], [110126013, 110126110], [110128491, 110128638], [110128830, 110128914], [110143260, 110143319]]
ENST00000530131 [[110102275, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118558], [110124670, 110124834], [110126013, 110126110], [110128491, 110128638], [110128830, 110128914], [110143260, 110143344], [110150405, 110150481], [110167191, 110167339]] [[110128851, 110128914], [110143260, 110143344], [110150405, 110150417]]
ENST00000530085 [[110102562, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110108511, 110108611]] [[110102593, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110108511, 110108611]]
ENST00000529774 [[110124669, 110124834], [110126013, 110126110], [110128491, 110128638], [110128830, 110128933]] None
ENST00000534683 [[110126030, 110126110], [110128491, 110128638], [110128830, 110128914], [110134684, 110134745], [110150437, 110150481], [110167191, 110167337]] [[110128491, 110128638], [110128830, 110128838]]
ENST00000532118 [[110128903, 110128914], [110134684, 110134959], [110135503, 110135599], [110143260, 110143344], [110159046, 110159116]] [[110128903, 110128914], [110134684, 110134959], [110135503, 110135599], [110143260, 110143323]]
ENST00000528556 [[110134684, 110134959], [110135503, 110135599], [110143260, 110143344], [110143635, 110143776], [110150405, 110150481], [110167191, 110167322]] [[110143635, 110143776], [110150405, 110150417]]
ENST00000533991 [[110134769, 110134959], [110135503, 110135599], [110143260, 110143344], [110167191, 110167365]] [[110134769, 110134959], [110135503, 110135599], [110143260, 110143323]]
ENST00000533678 [[110135503, 110135599], [110143260, 110143344], [110143635, 110143758], [110150405, 110150481], [110167191, 110167343]] [[110143635, 110143758], [110150405, 110150417]]
NM_001260493 [[110045604, 110045959], [110070305, 110070403], [110102597, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118558], [110124670, 110124834], [110126013, 110126110], [110128491, 110128638], [110128830, 110128914], [110134684, 110134959], [110135503, 110135599], [110143260, 110143344], [110150405, 110150481], [110167191, 110167437]] [[110070336, 110070403], [110102597, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118558], [110124670, 110124834], [110126013, 110126110], [110128491, 110128638], [110128830, 110128914], [110134684, 110134959], [110135503, 110135599], [110143260, 110143344], [110150405, 110150417]]
NM_001260492 [[110066285, 110066890], [110070305, 110070403], [110102597, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118558], [110124670, 110124834], [110126013, 110126110], [110128491, 110128638], [110128830, 110128914], [110134684, 110134959], [110135503, 110135599], [110143260, 110143344], [110150405, 110150481], [110167191, 110167437]] [[110070336, 110070403], [110102597, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118558], [110124670, 110124834], [110126013, 110126110], [110128491, 110128638], [110128830, 110128914], [110134684, 110134959], [110135503, 110135599], [110143260, 110143344], [110150405, 110150417]]
NM_001260496 [[110066285, 110066890], [110070305, 110070403], [110102597, 110102729], [110128881, 110128914], [110134684, 110134959], [110143260, 110143344], [110150405, 110150481], [110167191, 110167437]] [[110070336, 110070403], [110102597, 110102729], [110128881, 110128914], [110134684, 110134959], [110143260, 110143344], [110150405, 110150417]]
NM_001260495 [[110066285, 110066890], [110070305, 110070403], [110102597, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118558], [110150405, 110150481], [110167191, 110167437]] [[110070336, 110070403], [110102597, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118476]]
NM_002906 [[110100165, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118558], [110124670, 110124834], [110126013, 110126110], [110128491, 110128638], [110128830, 110128914], [110134684, 110134959], [110135503, 110135599], [110143260, 110143344], [110150405, 110150481], [110167191, 110167437]] [[110102593, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118558], [110124670, 110124834], [110126013, 110126110], [110128491, 110128638], [110128830, 110128914], [110134684, 110134959], [110135503, 110135599], [110143260, 110143344], [110150405, 110150417]]
NM_001260494 [[110100165, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118558], [110124670, 110124834], [110126013, 110126110], [110128491, 110128638], [110128830, 110128914], [110143260, 110143344], [110150405, 110150481], [110167191, 110167437]] [[110102593, 110102758], [110103961, 110104204], [110106823, 110106916], [110108216, 110108377], [110118427, 110118558], [110124670, 110124834], [110126013, 110126110], [110128491, 110128638], [110128830, 110128914], [110143260, 110143319]]
Promoter
Chrom Start End Description
chr11 110128922 110128926 CAGE_peak_15_at_RDX_5end
chr11 110129024 110129031 CAGE_peak_19_at_RDX_5end
chr11 110129088 110129096 CAGE_peak_18_at_RDX_5end
chr11 110167302 110167316 CAGE_peak_3_at_RDX_5end
chr11 110167331 110167350 CAGE_peak_1_at_RDX_5end
chr11 110167352 110167378 CAGE_peak_2_at_RDX_5end
chr11 110167633 110167658 CAGE_peak_7_at_RDX_5end
chr11 110167667 110167693 CAGE_peak_6_at_RDX_5end
chr11 110167695 110167726 CAGE_peak_4_at_RDX_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I110311 110311326 110312989 1.38 [{'connected_gene': 'ZC3H12C', 'score': 10.29}, {'connected_gene': 'RDX', 'score': 8.78}, {'connected_gene': 'FDX1', 'score': 1.5}, {'connected_gene': 'LOC105369486', 'score': 0.26}]
chr11 GH11I110303 110303193 110303818 0.63 [{'connected_gene': 'ZC3H12C', 'score': 10.18}, {'connected_gene': 'RDX', 'score': 9.27}, {'connected_gene': 'LOC105369486', 'score': 0.23}]
chr11 GH11I110193 110193458 110198576 0.99 [{'connected_gene': 'ZC3H12C', 'score': 16.03}, {'connected_gene': 'RDX', 'score': 7.66}, {'connected_gene': 'GC11M110172', 'score': 0.34}, {'connected_gene': 'GC11M110223', 'score': 0.29}]
chr11 GH11I110182 110182491 110186242 0.46 [{'connected_gene': 'ZC3H12C', 'score': 4.83}, {'connected_gene': 'GC11M110172', 'score': 0.39}, {'connected_gene': 'GC11M110223', 'score': 0.26}, {'connected_gene': 'RDX', 'score': 0.14}]
chr11 GH11I110129 110129868 110133505 1.58 [{'connected_gene': 'ZC3H12C', 'score': 26.65}, {'connected_gene': 'RDX', 'score': 1.38}, {'connected_gene': 'GC11P110167', 'score': 0.28}]
chr11 GH11I110497 110497133 110497588 0.53 [{'connected_gene': 'ZC3H12C', 'score': 10.93}, {'connected_gene': 'FDX1', 'score': 1.76}, {'connected_gene': 'RDX', 'score': 1.46}, {'connected_gene': 'GC11P110684', 'score': 0.09}]
chr11 GH11I110490 110490801 110491400 0.74 [{'connected_gene': 'ZC3H12C', 'score': 9.67}, {'connected_gene': 'FDX1', 'score': 1.62}, {'connected_gene': 'RDX', 'score': 1.35}, {'connected_gene': 'GC11P110684', 'score': 0.08}]
chr11 GH11I110091 110091570 110095913 2.49 [{'connected_gene': 'ZC3H12C', 'score': 574.68}, {'connected_gene': 'FDX1', 'score': 1.95}, {'connected_gene': 'RDX', 'score': 1.72}, {'connected_gene': 'GC11P110167', 'score': 0.19}]
chr11 GH11I110305 110305676 110306025 0.96 [{'connected_gene': 'ZC3H12C', 'score': 10.18}, {'connected_gene': 'LINC02550', 'score': 9.91}, {'connected_gene': 'RDX', 'score': 9.27}, {'connected_gene': 'LOC105369486', 'score': 0.25}]
chr11 GH11I110316 110316691 110321214 1.51 [{'connected_gene': 'RDX', 'score': 21.2}, {'connected_gene': 'ZC3H12C', 'score': 6.35}, {'connected_gene': 'FDX1', 'score': 1.27}, {'connected_gene': 'LOC105369486', 'score': 0.28}]
chr11 GH11I110292 110292512 110300049 2.22 [{'connected_gene': 'RDX', 'score': 559.75}, {'connected_gene': 'FDX1', 'score': 4.64}, {'connected_gene': 'GC11M110268', 'score': 0.34}]
chr11 GH11I110794 110794900 110795687 0.2 [{'connected_gene': 'RDX', 'score': 5.16}, {'connected_gene': 'HNRNPA1P60', 'score': 0.44}, {'connected_gene': 'PIR58374', 'score': 0.39}]
chr11 GH11I110310 110310051 110310580 0.2 [{'connected_gene': 'RDX', 'score': 9.3}, {'connected_gene': 'LOC105369486', 'score': 0.26}]
chr11 GH11I110313 110313424 110313919 0.2 [{'connected_gene': 'RDX', 'score': 7.34}, {'connected_gene': 'LOC105369486', 'score': 0.26}]
chr11 GH11I110327 110327645 110330032 0.92 [{'connected_gene': 'RDX', 'score': 4.51}, {'connected_gene': 'LOC105369486', 'score': 0.31}]
chr11 GH11I110336 110336439 110341034 1.05 [{'connected_gene': 'RDX', 'score': 17.26}, {'connected_gene': 'LOC105369486', 'score': 0.37}]
chr11 GH11I110289 110289457 110289886 0.38 [{'connected_gene': 'RDX', 'score': 0.44}, {'connected_gene': 'GC11M110268', 'score': 0.37}]
chr11 GH11I110291 110291054 110292112 0.43 [{'connected_gene': 'RDX', 'score': 0.44}, {'connected_gene': 'GC11M110268', 'score': 0.34}]
chr11 GH11I110290 110290103 110290578 0.49 [{'connected_gene': 'RDX', 'score': 0.44}, {'connected_gene': 'GC11M110268', 'score': 0.37}]
chr11 GH11I110493 110493388 110493712 0.28 [{'connected_gene': 'FDX1', 'score': 8.4}, {'connected_gene': 'ZC3H12C', 'score': 7.91}, {'connected_gene': 'RDX', 'score': 1.59}, {'connected_gene': 'GC11P110684', 'score': 0.08}]
chr11 GH11I110347 110347145 110350464 1.24 [{'connected_gene': 'FDX1', 'score': 15.93}, {'connected_gene': 'RDX', 'score': 14.03}, {'connected_gene': 'ZC3H12C', 'score': 9.01}, {'connected_gene': 'LOC105369486', 'score': 7.06}]
chr11 GH11I110372 110372380 110375623 1.3 [{'connected_gene': 'FDX1', 'score': 22.98}, {'connected_gene': 'LOC105369486', 'score': 11.07}, {'connected_gene': 'ZC3H12C', 'score': 9.53}, {'connected_gene': 'RDX', 'score': 5.39}, {'connected_gene': 'PIR61577', 'score': 0.26}]
chr11 GH11I110378 110378580 110382489 0.68 [{'connected_gene': 'FDX1', 'score': 30.74}, {'connected_gene': 'LOC105369486', 'score': 7.16}, {'connected_gene': 'RDX', 'score': 2.41}, {'connected_gene': 'PIR61577', 'score': 0.28}]
chr11 GH11I110354 110354498 110358690 1.29 [{'connected_gene': 'LOC105369486', 'score': 571.38}, {'connected_gene': 'RDX', 'score': 18.24}, {'connected_gene': 'FDX1', 'score': 12.41}, {'connected_gene': 'ZC3H12C', 'score': 7.86}, {'connected_gene': 'PIR61577', 'score': 0.21}]
chr11 GH11I110362 110362076 110364637 0.94 [{'connected_gene': 'LOC105369486', 'score': 10.24}, {'connected_gene': 'RDX', 'score': 4.59}, {'connected_gene': 'PIR61577', 'score': 0.23}]
chr11 GH11I110365 110365816 110366903 0.72 [{'connected_gene': 'LOC105369486', 'score': 10.74}, {'connected_gene': 'RDX', 'score': 5.55}, {'connected_gene': 'PIR61577', 'score': 0.23}]
chr11 GH11I110200 110200201 110200401 0.38 [{'connected_gene': 'GC11M110172', 'score': 0.31}, {'connected_gene': 'GC11M110223', 'score': 0.31}, {'connected_gene': 'RDX', 'score': 0.15}]
chr11 GH11I110201 110201400 110201800 0.95 [{'connected_gene': 'GC11M110172', 'score': 0.31}, {'connected_gene': 'GC11M110223', 'score': 0.31}, {'connected_gene': 'RDX', 'score': 0.15}]
chr11 GH11I110209 110209002 110209599 0.57 [{'connected_gene': 'GC11M110223', 'score': 0.37}, {'connected_gene': 'GC11M110172', 'score': 0.28}, {'connected_gene': 'RDX', 'score': 0.17}]
chr11 GH11I110173 110173925 110175319 0.92 [{'connected_gene': 'GC11M110172', 'score': 550.77}, {'connected_gene': 'GC11M110223', 'score': 0.23}, {'connected_gene': 'RDX', 'score': 0.13}]
chr11 GH11I110251 110251850 110252652 0.7 [{'connected_gene': 'GC11M110251', 'score': 0.77}, {'connected_gene': 'GC11M110230', 'score': 0.34}, {'connected_gene': 'RDX', 'score': 0.26}]
chr11 GH11I110176 110176468 110176585 0.2 [{'connected_gene': 'GC11M110172', 'score': 0.77}, {'connected_gene': 'GC11M110223', 'score': 0.23}, {'connected_gene': 'RDX', 'score': 0.13}]