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
ENST00000445392 [[4836685, 4839114], [4839260, 4839400], [4839801, 4839941], [4841283, 4841626], [4843176, 4843385], [4845196, 4845347], [4854908, 4855081], [4855858, 4856096], [4856869, 4856982], [4862024, 4862185], [4871771, 4871809], [4874237, 4874865], [4875988, 4876236], [4917235, 4917834], [4923226, 4923285]] [[4874424, 4874865], [4875988, 4876236], [4917235, 4917770]]
ENST00000399583 [[4838735, 4839114], [4839260, 4839400], [4839801, 4839941], [4841283, 4841626], [4843176, 4843385], [4845196, 4845347], [4854908, 4855081], [4855858, 4856096], [4856869, 4856982], [4862024, 4862185], [4871771, 4871809], [4874237, 4874870], [4875988, 4876236], [4917235, 4917834], [4923226, 4923350]] [[4839008, 4839114], [4839260, 4839400], [4839801, 4839941], [4841283, 4841626], [4843176, 4843385], [4845196, 4845347], [4854908, 4855081], [4855858, 4856096], [4856869, 4856982], [4862024, 4862185], [4871771, 4871809], [4874237, 4874870], [4875988, 4876236], [4917235, 4917770]]
ENST00000473130 [[4838739, 4839114], [4839260, 4839400], [4839801, 4839941], [4841283, 4841626], [4843176, 4843385], [4845196, 4845347], [4854908, 4855081], [4855858, 4856096], [4856869, 4856982], [4862024, 4862181], [4871771, 4871840]] None
ENST00000536091 [[4838739, 4839114], [4839260, 4839400], [4839801, 4839941], [4841283, 4841626], [4843176, 4843385], [4845196, 4845347], [4854908, 4855081], [4855858, 4856096], [4856869, 4856982], [4871771, 4871809], [4874237, 4874870], [4875988, 4876236], [4917235, 4917834], [4923226, 4923295]] [[4856034, 4856096], [4856869, 4856982], [4871771, 4871809], [4874237, 4874870], [4875988, 4876236], [4917235, 4917770]]
ENST00000538469 [[4838847, 4839114], [4839260, 4839400], [4839801, 4839941], [4841283, 4841626], [4843176, 4843385], [4845196, 4845347], [4854908, 4855081], [4855858, 4856096], [4856869, 4856982], [4862024, 4862185], [4871771, 4871809], [4874237, 4874870], [4875988, 4876236], [4877459, 4877688]] [[4839008, 4839114], [4839260, 4839400], [4839801, 4839941], [4841283, 4841626], [4843176, 4843385], [4845196, 4845347], [4854908, 4855081], [4855858, 4856096], [4856869, 4856982], [4862024, 4862185], [4871771, 4871809], [4874237, 4874870], [4875988, 4876051]]
ENST00000469399 [[4844875, 4845347], [4854908, 4854964]] None
ENST00000472999 [[4838735, 4839114], [4839260, 4839400], [4839801, 4839941], [4841283, 4841626], [4843176, 4843699]] None
ENST00000484211 [[4854908, 4855081], [4855858, 4856096], [4856869, 4856982], [4862024, 4862185], [4871771, 4871850]] None
ENST00000457174 [[4917368, 4917834], [4921739, 4921840]] [[4917368, 4917770]]
NM_018059 [[4838739, 4839114], [4839260, 4839400], [4839801, 4839941], [4841283, 4841626], [4843176, 4843385], [4845196, 4845347], [4854908, 4855081], [4855858, 4856096], [4856869, 4856982], [4862024, 4862185], [4871771, 4871809], [4874237, 4874870], [4875988, 4876236], [4917235, 4917834], [4923226, 4923335]] [[4839008, 4839114], [4839260, 4839400], [4839801, 4839941], [4841283, 4841626], [4843176, 4843385], [4845196, 4845347], [4854908, 4855081], [4855858, 4856096], [4856869, 4856982], [4862024, 4862185], [4871771, 4871809], [4874237, 4874870], [4875988, 4876236], [4917235, 4917770]]
Promoter
Chrom Start End Description
chr7 4877677 4877693 CAGE_peak_5_at_RADIL_5end
chr7 4923259 4923310 CAGE_peak_2_at_RADIL_5end
chr7 4923315 4923360 CAGE_peak_1_at_RADIL_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I004741 4741619 4750167 1.43 [{'connected_gene': 'AP5Z1', 'score': 19.08}, {'connected_gene': 'ZNF890P', 'score': 7.24}, {'connected_gene': 'RBAKDN', 'score': 5.49}, {'connected_gene': 'FOXK1', 'score': 5.43}, {'connected_gene': 'RADIL', 'score': 4.69}, {'connected_gene': 'PIR62911', 'score': 0.44}, {'connected_gene': 'PIR42800', 'score': 0.37}]
chr7 GH07I004774 4774110 4777213 2.07 [{'connected_gene': 'AP5Z1', 'score': 571.4}, {'connected_gene': 'RBAK', 'score': 18.73}, {'connected_gene': 'RNF216P1', 'score': 13.13}, {'connected_gene': 'TNRC18', 'score': 11.56}, {'connected_gene': 'RADIL', 'score': 11.05}, {'connected_gene': 'GC07P004785', 'score': 0.39}]
chr7 GH07I004791 4791039 4793358 0.79 [{'connected_gene': 'AP5Z1', 'score': 12.49}, {'connected_gene': 'RADIL', 'score': 8.92}, {'connected_gene': 'MIR4656', 'score': 0.77}, {'connected_gene': 'GC07P004785', 'score': 0.44}, {'connected_gene': 'GC07P004807', 'score': 0.37}]
chr7 GH07I004845 4845707 4846466 0.82 [{'connected_gene': 'AP5Z1', 'score': 4.72}, {'connected_gene': 'PIR34147', 'score': 0.39}, {'connected_gene': 'ENSG00000206895', 'score': 0.29}, {'connected_gene': 'GC07M004814', 'score': 0.29}, {'connected_gene': 'RADIL', 'score': 0.28}]
chr7 GH07I004798 4798200 4798601 0.89 [{'connected_gene': 'AP5Z1', 'score': 10.38}, {'connected_gene': 'MIR4656', 'score': 0.44}, {'connected_gene': 'GC07P004807', 'score': 0.44}, {'connected_gene': 'RADIL', 'score': 0.17}]
chr7 GH07I005392 5392869 5399667 1.32 [{'connected_gene': 'TNRC18', 'score': 7.43}, {'connected_gene': 'RADIL', 'score': 5.02}, {'connected_gene': 'ENSG00000241269', 'score': 0.34}, {'connected_gene': 'GC07P005375', 'score': 0.34}]
chr7 GH07I004819 4819357 4820901 0.2 [{'connected_gene': 'RADIL', 'score': 9.54}, {'connected_gene': 'AP5Z1', 'score': 5.97}, {'connected_gene': 'ENSG00000206895', 'score': 0.44}, {'connected_gene': 'GC07M004814', 'score': 0.44}, {'connected_gene': 'PIR34147', 'score': 0.28}]
chr7 GH07I004837 4837035 4837097 0.33 [{'connected_gene': 'RADIL', 'score': 12.47}, {'connected_gene': 'AP5Z1', 'score': 4.59}, {'connected_gene': 'PIR34147', 'score': 0.34}, {'connected_gene': 'ENSG00000206895', 'score': 0.31}, {'connected_gene': 'GC07M004814', 'score': 0.31}]
chr7 GH07I005088 5088570 5088719 0.56 [{'connected_gene': 'RADIL', 'score': 10.99}, {'connected_gene': 'WIPI2', 'score': 10.64}, {'connected_gene': 'AP5Z1', 'score': 10.39}, {'connected_gene': 'OR10AH1P', 'score': 0.37}, {'connected_gene': 'RBAKDN', 'score': 0.37}]
chr7 GH07I005085 5085386 5085818 0.91 [{'connected_gene': 'RADIL', 'score': 10.99}, {'connected_gene': 'WIPI2', 'score': 10.64}, {'connected_gene': 'AP5Z1', 'score': 10.4}, {'connected_gene': 'RBAKDN', 'score': 0.39}, {'connected_gene': 'OR10AH1P', 'score': 0.37}]
chr7 GH07I004881 4881679 4883919 1.9 [{'connected_gene': 'RADIL', 'score': 569.9}, {'connected_gene': 'RPL22P16', 'score': 0.37}]
chr7 GH07I004871 4871968 4873366 0.54 [{'connected_gene': 'RADIL', 'score': 28.02}, {'connected_gene': 'RPL22P16', 'score': 0.44}]
chr7 GH07I004873 4873918 4874056 0.22 [{'connected_gene': 'RADIL', 'score': 0.44}, {'connected_gene': 'RPL22P16', 'score': 0.44}]
chr7 GH07I004808 4808500 4808799 0.2 [{'connected_gene': 'GC07P004807', 'score': 550.77}, {'connected_gene': 'AP5Z1', 'score': 18.07}, {'connected_gene': 'RADIL', 'score': 4.65}, {'connected_gene': 'ENSG00000206895', 'score': 0.77}, {'connected_gene': 'GC07M004814', 'score': 0.77}]
chr7 GH07I004809 4809015 4809640 0.46 [{'connected_gene': 'ENSG00000206895', 'score': 550.77}, {'connected_gene': 'GC07P004807', 'score': 550.77}, {'connected_gene': 'GC07M004814', 'score': 550.77}, {'connected_gene': 'AP5Z1', 'score': 17.66}, {'connected_gene': 'RADIL', 'score': 11.21}]
chr7 GH07I004861 4861464 4862087 0.88 [{'connected_gene': 'PIR34147', 'score': 550.77}, {'connected_gene': 'PAPOLB', 'score': 550.77}, {'connected_gene': 'RADIL', 'score': 13.01}]
chr7 GH07I004714 4714601 4716253 1.41 [{'connected_gene': 'GC07M004681', 'score': 550.77}, {'connected_gene': 'RADIL', 'score': 4.7}, {'connected_gene': 'PIR62911', 'score': 0.34}, {'connected_gene': 'FOXK1', 'score': 0.19}]
chr7 GH07I004807 4807830 4807979 0.38 [{'connected_gene': 'GC07P004807', 'score': 550.77}, {'connected_gene': 'ENSG00000206895', 'score': 0.77}, {'connected_gene': 'GC07M004814', 'score': 0.77}, {'connected_gene': 'RADIL', 'score': 0.18}]
chr7 GH07I004830 4830210 4830419 0.91 [{'connected_gene': 'ENSG00000206895', 'score': 0.37}, {'connected_gene': 'GC07M004814', 'score': 0.37}, {'connected_gene': 'PIR34147', 'score': 0.31}, {'connected_gene': 'RADIL', 'score': 0.23}]
chr7 GH07I004825 4825090 4825224 0.52 [{'connected_gene': 'ENSG00000206895', 'score': 0.39}, {'connected_gene': 'GC07M004814', 'score': 0.39}, {'connected_gene': 'PIR34147', 'score': 0.29}, {'connected_gene': 'RADIL', 'score': 0.22}]
chr7 GH07I004765 4765748 4770194 0.58 [{'connected_gene': 'PIR61632', 'score': 550.77}, {'connected_gene': 'PIR39599', 'score': 550.77}, {'connected_gene': 'PIR47511', 'score': 550.77}, {'connected_gene': 'GC07P004766', 'score': 550.77}, {'connected_gene': 'FOXK1', 'score': 31.54}, {'connected_gene': 'AP5Z1', 'score': 7.64}, {'connected_gene': 'RBAKDN', 'score': 5.87}, {'connected_gene': 'RADIL', 'score': 5.84}, {'connected_gene': 'GC07P004765', 'score': 0.77}]