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
ENST00000374379 [[25071847, 25072116], [25124232, 25124342], [25140584, 25140710], [25153500, 25153607], [25166350, 25166532], [25167263, 25170815]] [[25072044, 25072116], [25124232, 25124342], [25140584, 25140710], [25153500, 25153607], [25166350, 25166532], [25167263, 25167428]]
ENST00000497755 [[25071872, 25072116], [25119667, 25119704], [25124232, 25124342], [25140584, 25140710], [25153500, 25153607], [25166350, 25166398]] None
ENST00000488683 [[25071872, 25072116], [25124232, 25124342], [25140584, 25140710], [25153500, 25153607], [25166350, 25166532], [25167263, 25169078], [25170619, 25170758]] [[25072044, 25072116], [25124232, 25124342], [25140584, 25140710], [25153500, 25153607], [25166350, 25166532], [25167263, 25167428]]
ENST00000489758 [[25071899, 25072116], [25124232, 25124454]] None
NM_013943 [[25071759, 25072116], [25124232, 25124342], [25140584, 25140710], [25153500, 25153607], [25166350, 25166532], [25167263, 25170815]] [[25072044, 25072116], [25124232, 25124342], [25140584, 25140710], [25153500, 25153607], [25166350, 25166532], [25167263, 25167428]]
Promoter
Chrom Start End Description
chr1 25071930 25071944 CAGE_peak_1_at_CLIC4_5end
chr1 25168712 25168734 CAGE_peak_4_at_CLIC4_5end
chr1 25168893 25168905 CAGE_peak_18_at_CLIC4_5end
chr1 25168909 25168925 CAGE_peak_11_at_CLIC4_5end
chr1 25168967 25169063 CAGE_peak_2_at_CLIC4_5end
chr1 25169284 25169298 CAGE_peak_9_at_CLIC4_5end
chr1 25169314 25169337 CAGE_peak_6_at_CLIC4_5end
chr1 25169419 25169465 CAGE_peak_5_at_CLIC4_5end
chr1 25169469 25169513 CAGE_peak_3_at_CLIC4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I024668 24668948 24674519 0.46 [{'connected_gene': 'NCMAP', 'score': 14.58}, {'connected_gene': 'CLIC4', 'score': 12.49}, {'connected_gene': 'RNU6-1208P', 'score': 11.42}, {'connected_gene': 'GC01P024703', 'score': 0.29}, {'connected_gene': 'SRRM1', 'score': 0.26}]
chr1 GH01I024768 24768124 24772145 1.47 [{'connected_gene': 'NCMAP', 'score': 9.75}, {'connected_gene': 'CLIC4', 'score': 5.21}, {'connected_gene': 'GC01M024778', 'score': 0.44}, {'connected_gene': 'RNU6-1208P', 'score': 0.44}]
chr1 GH01I024708 24708715 24710680 1.03 [{'connected_gene': 'NCMAP', 'score': 10.13}, {'connected_gene': 'ENSG00000284699', 'score': 0.77}, {'connected_gene': 'CLIC4', 'score': 0.28}]
chr1 GH01I024707 24707601 24708200 1 [{'connected_gene': 'NCMAP', 'score': 10.13}, {'connected_gene': 'ENSG00000284699', 'score': 0.77}, {'connected_gene': 'CLIC4', 'score': 0.28}]
chr1 GH01I024761 24761699 24763139 1.28 [{'connected_gene': 'NCMAP', 'score': 9.44}, {'connected_gene': 'GC01M024778', 'score': 0.37}, {'connected_gene': 'RNU6-1208P', 'score': 0.37}, {'connected_gene': 'CLIC4', 'score': 0.37}]
chr1 GH01I024682 24682504 24684557 1.08 [{'connected_gene': 'CLIC4', 'score': 12.51}, {'connected_gene': 'RNU6-1208P', 'score': 11.3}, {'connected_gene': 'NCMAP', 'score': 10.11}, {'connected_gene': 'GC01P024703', 'score': 0.37}, {'connected_gene': 'SRRM1', 'score': 0.23}]
chr1 GH01I024712 24712567 24715961 1.02 [{'connected_gene': 'CLIC4', 'score': 22.05}, {'connected_gene': 'RNU6-1208P', 'score': 11.62}, {'connected_gene': 'SRRM1', 'score': 4.73}, {'connected_gene': 'ENSG00000284699', 'score': 0.44}]
chr1 GH01I024740 24740581 24750318 2.32 [{'connected_gene': 'CLIC4', 'score': 560.51}, {'connected_gene': 'GC01M024778', 'score': 0.29}, {'connected_gene': 'RNU6-1208P', 'score': 0.29}]
chr1 GH01I024693 24693779 24696533 1.58 [{'connected_gene': 'CLIC4', 'score': 7.72}, {'connected_gene': 'GC01P024703', 'score': 0.44}, {'connected_gene': 'SRRM1', 'score': 0.21}]
chr1 GH01I024792 24792269 24795180 0.96 [{'connected_gene': 'CLIC4', 'score': 6.88}, {'connected_gene': 'GC01P024788', 'score': 0.44}, {'connected_gene': 'GC01P024848', 'score': 0.23}]
chr1 GH01I024739 24739950 24740099 0.31 [{'connected_gene': 'CLIC4', 'score': 0.44}, {'connected_gene': 'ENSG00000284699', 'score': 0.28}]
chr1 GH01I024728 24728718 24729880 0.38 [{'connected_gene': 'CLIC4', 'score': 8.14}, {'connected_gene': 'ENSG00000284699', 'score': 0.34}]
chr1 GH01I024724 24724003 24728359 1.63 [{'connected_gene': 'CLIC4', 'score': 9.31}, {'connected_gene': 'ENSG00000284699', 'score': 0.34}]
chr1 GH01I024717 24717767 24721226 1.11 [{'connected_gene': 'CLIC4', 'score': 7.92}, {'connected_gene': 'ENSG00000284699', 'score': 0.39}]
chr1 GH01I024699 24699190 24700199 0.78 [{'connected_gene': 'SRSF10', 'score': 14.49}, {'connected_gene': 'SYF2', 'score': 14.21}, {'connected_gene': 'PNRC2', 'score': 13.05}, {'connected_gene': 'SRRM1', 'score': 12.05}, {'connected_gene': 'ELOA', 'score': 10.89}, {'connected_gene': 'CLIC4', 'score': 8.25}, {'connected_gene': 'GC01P024703', 'score': 0.77}]
chr1 GH01I024678 24678670 24678819 0.66 [{'connected_gene': 'SRSF10', 'score': 27.18}, {'connected_gene': 'SRRM1', 'score': 17.32}, {'connected_gene': 'CLIC4', 'score': 12.5}, {'connected_gene': 'ELOA', 'score': 12.43}, {'connected_gene': 'PNRC2', 'score': 12.13}, {'connected_gene': 'RNU6-1208P', 'score': 11.29}, {'connected_gene': 'RPL11', 'score': 11.2}, {'connected_gene': 'NCMAP', 'score': 10.11}, {'connected_gene': 'GC01P024703', 'score': 0.34}]
chr1 GH01I024765 24765146 24766399 1.35 [{'connected_gene': 'SRSF10', 'score': 27.19}, {'connected_gene': 'SRRM1', 'score': 17.19}, {'connected_gene': 'CLIC4', 'score': 12.15}, {'connected_gene': 'PNRC2', 'score': 12.13}, {'connected_gene': 'NCMAP', 'score': 9.44}, {'connected_gene': 'GC01M024778', 'score': 0.39}, {'connected_gene': 'RNU6-1208P', 'score': 0.39}]
chr1 GH01I024802 24802801 24805000 0.74 [{'connected_gene': 'RNU6-1208P', 'score': 12.83}, {'connected_gene': 'CLIC4', 'score': 12.16}, {'connected_gene': 'NCMAP', 'score': 9.71}, {'connected_gene': 'IFNLR1', 'score': 4.33}, {'connected_gene': 'GC01P024788', 'score': 0.37}, {'connected_gene': 'GC01P024848', 'score': 0.26}]
chr1 GH01I024806 24806000 24806400 0.69 [{'connected_gene': 'RNU6-1208P', 'score': 12.83}, {'connected_gene': 'CLIC4', 'score': 11.6}, {'connected_gene': 'GC01P024788', 'score': 0.37}, {'connected_gene': 'GC01P024848', 'score': 0.26}]
chr1 GH01I024752 24752219 24752715 0.49 [{'connected_gene': 'RNU6-1208P', 'score': 12.33}, {'connected_gene': 'CLIC4', 'score': 0.44}, {'connected_gene': 'GC01M024778', 'score': 0.31}]
chr1 GH01I024753 24752801 24753000 0.31 [{'connected_gene': 'RNU6-1208P', 'score': 12.33}, {'connected_gene': 'CLIC4', 'score': 8.4}, {'connected_gene': 'GC01M024778', 'score': 0.31}]
chr1 GH01I024754 24754001 24754800 0.66 [{'connected_gene': 'RNU6-1208P', 'score': 12.71}, {'connected_gene': 'CLIC4', 'score': 0.44}, {'connected_gene': 'GC01M024778', 'score': 0.34}]
chr1 GH01I024730 24730388 24731301 1.07 [{'connected_gene': 'RNU6-1208P', 'score': 12.26}, {'connected_gene': 'CLIC4', 'score': 8.2}, {'connected_gene': 'ENSG00000284699', 'score': 0.31}]
chr1 GH01I024735 24735030 24737139 1.3 [{'connected_gene': 'RNU6-1208P', 'score': 12.28}, {'connected_gene': 'CLIC4', 'score': 8.27}, {'connected_gene': 'ENSG00000284699', 'score': 0.29}]
chr1 GH01I024732 24732602 24734024 0.84 [{'connected_gene': 'RNU6-1208P', 'score': 12.28}, {'connected_gene': 'CLIC4', 'score': 9.17}, {'connected_gene': 'ENSG00000284699', 'score': 0.31}]
chr1 GH01I024701 24701488 24703642 0.97 [{'connected_gene': 'GC01P024703', 'score': 550.77}, {'connected_gene': 'NCMAP', 'score': 10.13}, {'connected_gene': 'CLIC4', 'score': 8.96}, {'connected_gene': 'SRRM1', 'score': 4.72}]
chr1 GH01I024704 24704271 24706718 1.42 [{'connected_gene': 'ENSG00000284699', 'score': 550.77}, {'connected_gene': 'NCMAP', 'score': 10.13}, {'connected_gene': 'CLIC4', 'score': 7.44}]
chr1 GH01I024786 24786145 24786598 0.83 [{'connected_gene': 'GC01P024788', 'score': 550.77}, {'connected_gene': 'CLIC4', 'score': 11.79}, {'connected_gene': 'GC01M024778', 'score': 0.44}, {'connected_gene': 'RNU6-1208P', 'score': 0.44}]
chr1 GH01I024801 24801201 24801600 0.4 [{'connected_gene': 'GC01P024788', 'score': 0.39}, {'connected_gene': 'GC01P024848', 'score': 0.25}, {'connected_gene': 'CLIC4', 'score': 0.22}]
chr1 GH01I024788 24788299 24789368 0.31 [{'connected_gene': 'GC01P024788', 'score': 550.77}, {'connected_gene': 'CLIC4', 'score': 0.26}, {'connected_gene': 'GC01P024848', 'score': 0.22}]
chr1 GH01I024830 24830770 24830959 0.68 [{'connected_gene': 'GC01P024848', 'score': 0.37}, {'connected_gene': 'GC01P024788', 'score': 0.26}, {'connected_gene': 'CLIC4', 'score': 0.17}]
chr1 GH01I024722 24722155 24723204 0.89 [{'connected_gene': 'ENSG00000284699', 'score': 0.37}, {'connected_gene': 'CLIC4', 'score': 0.34}]
chr1 GH01I024790 24790214 24790925 0.52 [{'connected_gene': 'GC01P024788', 'score': 0.77}, {'connected_gene': 'CLIC4', 'score': 0.25}, {'connected_gene': 'GC01P024848', 'score': 0.22}]
chr1 GH01I024779 24779302 24780876 0.6 [{'connected_gene': 'GC01M024778', 'score': 0.77}, {'connected_gene': 'RNU6-1208P', 'score': 0.77}, {'connected_gene': 'GC01P024788', 'score': 0.44}, {'connected_gene': 'CLIC4', 'score': 0.29}]
chr1 GH01I024767 24767510 24767659 0.88 [{'connected_gene': 'GC01M024778', 'score': 0.39}, {'connected_gene': 'RNU6-1208P', 'score': 0.39}, {'connected_gene': 'CLIC4', 'score': 0.34}]
chr1 GH01I024774 24774945 24776484 0.52 [{'connected_gene': 'GC01M024778', 'score': 0.77}, {'connected_gene': 'RNU6-1208P', 'score': 0.77}, {'connected_gene': 'CLIC4', 'score': 0.29}]