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
ENST00000535401 [[114128552, 114128600], [114133569, 114133656], [114167149, 114167432], [114168672, 114168880], [114182766, 114184007]] [[114167278, 114167432], [114168672, 114168880], [114182766, 114183199]]
ENST00000541090 [[114133609, 114133656], [114141039, 114141179], [114182766, 114182930]] None
ENST00000535185 [[114128508, 114128600], [114133569, 114133656], [114141039, 114141239]] None
ENST00000299964 [[114166546, 114167432], [114168672, 114168880], [114182766, 114183282]] [[114167278, 114167432], [114168672, 114168880], [114182766, 114183199]]
ENST00000546313 [[114167144, 114167432], [114168672, 114169049]] None
ENST00000541754 [[114168084, 114168120], [114168672, 114168880], [114182766, 114183238]] [[114182989, 114183199]]
ENST00000542647 [[114168817, 114168857], [114182766, 114183237]] [[114182989, 114183199]]
ENST00000545255 [[114168872, 114168916], [114182766, 114183237]] [[114182989, 114183199]]
NM_006169 [[114166534, 114167432], [114168672, 114168880], [114182766, 114183238]] [[114167278, 114167432], [114168672, 114168880], [114182766, 114183199]]
Promoter
Chrom Start End Description
chr11 114128522 114128543 CAGE_peak_7_at_NNMT_5end
chr11 114166473 114166500 CAGE_peak_6_at_NNMT_5end
chr11 114166536 114166560 CAGE_peak_12_at_NNMT_5end
chr11 114166577 114166592 CAGE_peak_9_at_NNMT_5end
chr11 114167053 114167067 CAGE_peak_5_at_NNMT_5end
chr11 114167069 114167146 CAGE_peak_1_at_NNMT_5end
chr11 114167149 114167162 CAGE_peak_4_at_NNMT_5end
chr11 114167164 114167190 CAGE_peak_2_at_NNMT_5end
chr11 114167202 114167221 CAGE_peak_3_at_NNMT_5end
chr11 114167586 114167599 CAGE_peak_16_at_NNMT_5end
chr11 114168773 114168784 CAGE_peak_14_at_NNMT_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I114057 114057701 114068871 2.55 [{'connected_gene': 'ZBTB16', 'score': 558.38}, {'connected_gene': 'GC11M114060', 'score': 550.77}, {'connected_gene': 'NNMT', 'score': 10.44}, {'connected_gene': 'LOC101928875', 'score': 0.14}]
chr11 GH11I114275 114275208 114275613 0.39 [{'connected_gene': 'ZBTB16', 'score': 2.47}, {'connected_gene': 'GC11M114263', 'score': 0.39}, {'connected_gene': 'NNMT', 'score': 0.37}, {'connected_gene': 'GC11P114306', 'score': 0.29}, {'connected_gene': 'ENSG00000256947', 'score': 0.18}]
chr11 GH11I114279 114279762 114282049 1.38 [{'connected_gene': 'NNMT', 'score': 6.27}, {'connected_gene': 'ZBTB16', 'score': 2.33}, {'connected_gene': 'GC11M114263', 'score': 0.37}, {'connected_gene': 'GC11P114306', 'score': 0.31}, {'connected_gene': 'ENSG00000256947', 'score': 0.18}]
chr11 GH11I114212 114212590 114213756 0.76 [{'connected_gene': 'NNMT', 'score': 11.82}, {'connected_gene': 'PIR38575', 'score': 0.39}, {'connected_gene': 'PIR57549', 'score': 0.28}, {'connected_gene': 'ENSG00000256947', 'score': 0.11}, {'connected_gene': 'ZBTB16', 'score': 0.1}]
chr11 GH11I114218 114218937 114221031 1.16 [{'connected_gene': 'NNMT', 'score': 11.84}, {'connected_gene': 'PIR38575', 'score': 0.37}, {'connected_gene': 'PIR57549', 'score': 0.29}, {'connected_gene': 'ENSG00000256947', 'score': 0.12}, {'connected_gene': 'ZBTB16', 'score': 0.1}]
chr11 GH11I114236 114236062 114238522 0.51 [{'connected_gene': 'NNMT', 'score': 13.15}, {'connected_gene': 'PIR57549', 'score': 0.37}, {'connected_gene': 'PIR38575', 'score': 0.28}, {'connected_gene': 'ENSG00000256947', 'score': 0.13}, {'connected_gene': 'ZBTB16', 'score': 0.1}]
chr11 GH11I114205 114205512 114207756 0.2 [{'connected_gene': 'NNMT', 'score': 11.85}, {'connected_gene': 'PIR38575', 'score': 0.44}, {'connected_gene': 'PIR57549', 'score': 0.25}, {'connected_gene': 'ZBTB16', 'score': 0.11}]
chr11 GH11I114232 114232599 114232748 0.66 [{'connected_gene': 'NNMT', 'score': 11.83}, {'connected_gene': 'PIR57549', 'score': 0.34}, {'connected_gene': 'PIR38575', 'score': 0.29}, {'connected_gene': 'ENSG00000256947', 'score': 0.13}, {'connected_gene': 'ZBTB16', 'score': 0.09}]
chr11 GH11I114219 114218569 114218896 0.89 [{'connected_gene': 'NNMT', 'score': 11.84}, {'connected_gene': 'PIR38575', 'score': 0.37}, {'connected_gene': 'PIR57549', 'score': 0.29}, {'connected_gene': 'ENSG00000256947', 'score': 0.12}, {'connected_gene': 'ZBTB16', 'score': 0.1}]
chr11 GH11I114225 114225890 114227426 0.31 [{'connected_gene': 'NNMT', 'score': 11.81}, {'connected_gene': 'PIR38575', 'score': 0.31}, {'connected_gene': 'PIR57549', 'score': 0.31}, {'connected_gene': 'ENSG00000256947', 'score': 0.13}, {'connected_gene': 'ZBTB16', 'score': 0.1}]
chr11 GH11I114208 114208001 114210867 0.95 [{'connected_gene': 'NNMT', 'score': 11.87}, {'connected_gene': 'PIR38575', 'score': 0.44}, {'connected_gene': 'PIR57549', 'score': 0.26}, {'connected_gene': 'ENSG00000256947', 'score': 0.11}, {'connected_gene': 'ZBTB16', 'score': 0.11}]
chr11 GH11I114229 114229071 114229470 0.78 [{'connected_gene': 'NNMT', 'score': 11.83}, {'connected_gene': 'PIR57549', 'score': 0.34}, {'connected_gene': 'PIR38575', 'score': 0.31}, {'connected_gene': 'ENSG00000256947', 'score': 0.13}, {'connected_gene': 'ZBTB16', 'score': 0.1}]
chr11 GH11I114233 114232882 114235591 0.6 [{'connected_gene': 'NNMT', 'score': 12.29}, {'connected_gene': 'PIR57549', 'score': 0.37}, {'connected_gene': 'PIR38575', 'score': 0.29}, {'connected_gene': 'ENSG00000256947', 'score': 0.13}, {'connected_gene': 'ZBTB16', 'score': 0.09}]
chr11 GH11I114031 114031570 114031695 0.48 [{'connected_gene': 'NNMT', 'score': 10.88}, {'connected_gene': 'CLDN25', 'score': 10.82}, {'connected_gene': 'USP28', 'score': 10.68}, {'connected_gene': 'GC11P114027', 'score': 0.77}, {'connected_gene': 'GC11P114056', 'score': 0.34}]
chr11 GH11I113961 113961001 113961400 0.2 [{'connected_gene': 'NNMT', 'score': 9.99}, {'connected_gene': 'HTR3A', 'score': 0.39}, {'connected_gene': 'HTR3B', 'score': 0.21}]
chr11 GH11I114174 114174771 114188454 1.47 [{'connected_gene': 'NNMT', 'score': 11.56}, {'connected_gene': 'HTR3A', 'score': 10.19}, {'connected_gene': 'ZBTB16', 'score': 7.76}, {'connected_gene': 'LOC101928875', 'score': 0.44}, {'connected_gene': 'PIR38575', 'score': 0.37}]
chr11 GH11I114108 114108626 114112054 1.03 [{'connected_gene': 'NNMT', 'score': 10.76}, {'connected_gene': 'HTR3A', 'score': 9.76}, {'connected_gene': 'ENSG00000270179', 'score': 5.48}, {'connected_gene': 'GC11M114060', 'score': 0.25}, {'connected_gene': 'ZBTB16', 'score': 0.23}, {'connected_gene': 'LOC101928875', 'score': 0.21}]
chr11 GH11I114112 114112326 114118091 0.43 [{'connected_gene': 'NNMT', 'score': 10.72}, {'connected_gene': 'HTR3A', 'score': 9.31}, {'connected_gene': 'ENSG00000270179', 'score': 5.37}, {'connected_gene': 'GC11M114060', 'score': 0.23}, {'connected_gene': 'LOC101928875', 'score': 0.22}, {'connected_gene': 'ZBTB16', 'score': 0.22}]
chr11 GH11I113896 113895519 113895668 0.59 [{'connected_gene': 'NNMT', 'score': 10.88}, {'connected_gene': 'RNU6-1107P', 'score': 10.58}, {'connected_gene': 'HTR3A', 'score': 10.47}, {'connected_gene': 'HTR3B', 'score': 0.77}, {'connected_gene': 'USP28', 'score': 0.34}]
chr11 GH11I113895 113895939 113896720 0.65 [{'connected_gene': 'NNMT', 'score': 10.88}, {'connected_gene': 'RNU6-1107P', 'score': 10.58}, {'connected_gene': 'HTR3A', 'score': 10.47}, {'connected_gene': 'ATF4P4', 'score': 6.48}, {'connected_gene': 'DRD2', 'score': 4.2}, {'connected_gene': 'HTR3B', 'score': 0.77}, {'connected_gene': 'USP28', 'score': 0.34}]
chr11 GH11I114035 114035699 114036956 1.25 [{'connected_gene': 'NNMT', 'score': 11.63}, {'connected_gene': 'RNU6-1107P', 'score': 9.67}, {'connected_gene': 'GC11P114027', 'score': 0.44}, {'connected_gene': 'GC11P114056', 'score': 0.37}]
chr11 GH11I114288 114288922 114301986 2.38 [{'connected_gene': 'NNMT', 'score': 570.44}, {'connected_gene': 'LOC101928940', 'score': 11.11}, {'connected_gene': 'RBM7', 'score': 10.54}, {'connected_gene': 'C11orf71', 'score': 10.53}, {'connected_gene': 'ENSG00000255663', 'score': 10.53}, {'connected_gene': 'ZW10', 'score': 5.91}, {'connected_gene': 'GC11P114306', 'score': 0.39}, {'connected_gene': 'GC11M114263', 'score': 0.29}, {'connected_gene': 'ENSG00000256947', 'score': 0.21}]
chr11 GH11I114119 114119124 114127360 0.64 [{'connected_gene': 'NNMT', 'score': 10.72}, {'connected_gene': 'LOC101928875', 'score': 0.23}, {'connected_gene': 'GC11M114060', 'score': 0.21}, {'connected_gene': 'ZBTB16', 'score': 0.21}]
chr11 GH11I114146 114146955 114151915 1.21 [{'connected_gene': 'NNMT', 'score': 10.6}, {'connected_gene': 'LOC101928875', 'score': 0.31}, {'connected_gene': 'GC11M114060', 'score': 0.17}, {'connected_gene': 'ZBTB16', 'score': 0.17}]
chr11 GH11I114145 114145794 114146825 0.31 [{'connected_gene': 'NNMT', 'score': 10.59}, {'connected_gene': 'LOC101928875', 'score': 0.31}, {'connected_gene': 'GC11M114060', 'score': 0.18}, {'connected_gene': 'ZBTB16', 'score': 0.17}]
chr11 GH11I114142 114142898 114144953 1.06 [{'connected_gene': 'NNMT', 'score': 10.58}, {'connected_gene': 'LOC101928875', 'score': 0.29}, {'connected_gene': 'GC11M114060', 'score': 0.18}, {'connected_gene': 'ZBTB16', 'score': 0.18}]
chr11 GH11I114255 114255759 114255974 0.6 [{'connected_gene': 'NNMT', 'score': 550.77}, {'connected_gene': 'PIR57549', 'score': 0.77}, {'connected_gene': 'ENSG00000256947', 'score': 0.15}]
chr11 GH11I114256 114256306 114259599 1.2 [{'connected_gene': 'NNMT', 'score': 550.77}, {'connected_gene': 'GC11M114263', 'score': 0.44}, {'connected_gene': 'ENSG00000256947', 'score': 0.15}]
chr11 GH11I114261 114261139 114261308 0.84 [{'connected_gene': 'NNMT', 'score': 0.77}, {'connected_gene': 'GC11M114263', 'score': 0.77}, {'connected_gene': 'ENSG00000256947', 'score': 0.15}]
chr11 GH11I114044 114044599 114044748 0.58 [{'connected_gene': 'NNMT', 'score': 10.78}, {'connected_gene': 'GC11P114056', 'score': 0.44}, {'connected_gene': 'GC11P114027', 'score': 0.37}]
chr11 GH11I114283 114283545 114284644 0.46 [{'connected_gene': 'NNMT', 'score': 7.43}, {'connected_gene': 'GC11M114263', 'score': 0.37}, {'connected_gene': 'GC11P114306', 'score': 0.34}, {'connected_gene': 'ENSG00000256947', 'score': 0.19}]
chr11 GH11I114284 114284807 114287077 0.79 [{'connected_gene': 'NNMT', 'score': 8.06}, {'connected_gene': 'GC11M114263', 'score': 0.34}, {'connected_gene': 'GC11P114306', 'score': 0.34}, {'connected_gene': 'ENSG00000256947', 'score': 0.19}]
chr11 GH11I114049 114049967 114051307 0.31 [{'connected_gene': 'NNMT', 'score': 10.78}, {'connected_gene': 'GC11P114056', 'score': 0.77}, {'connected_gene': 'GC11P114027', 'score': 0.34}]
chr11 GH11I114040 114040330 114041399 1.2 [{'connected_gene': 'NNMT', 'score': 11.36}, {'connected_gene': 'GC11P114027', 'score': 0.39}, {'connected_gene': 'GC11P114056', 'score': 0.39}]
chr11 GH11I114045 114044159 114044308 0.86 [{'connected_gene': 'NNMT', 'score': 10.78}, {'connected_gene': 'GC11P114056', 'score': 0.39}, {'connected_gene': 'GC11P114027', 'score': 0.37}]
chr11 GH11I114311 114311795 114313079 0.31 [{'connected_gene': 'NNMT', 'score': 4.73}, {'connected_gene': 'GC11P114315', 'score': 0.77}, {'connected_gene': 'GC11P114306', 'score': 0.44}, {'connected_gene': 'ENSG00000256947', 'score': 0.26}]
chr11 GH11I114260 114260859 114260888 0.51 [{'connected_gene': 'NNMT', 'score': 0.77}, {'connected_gene': 'GC11M114263', 'score': 0.77}, {'connected_gene': 'ENSG00000256947', 'score': 0.15}]
chr11 GH11I113932 113932899 113933068 0.31 [{'connected_gene': 'HTR3A', 'score': 11.27}, {'connected_gene': 'NNMT', 'score': 10.28}, {'connected_gene': 'HTR3B', 'score': 0.29}]
chr11 GH11I113952 113952001 113953004 0.82 [{'connected_gene': 'HTR3A', 'score': 12.63}, {'connected_gene': 'NNMT', 'score': 10.35}, {'connected_gene': 'RNU6-1107P', 'score': 9.52}, {'connected_gene': 'ATF4P4', 'score': 6.99}, {'connected_gene': 'HTR3B', 'score': 0.23}]
chr11 GH11I114214 114214818 114218433 1.43 [{'connected_gene': 'RBM7', 'score': 22.63}, {'connected_gene': 'ZW10', 'score': 12.49}, {'connected_gene': 'NNMT', 'score': 11.82}, {'connected_gene': 'NXPE4', 'score': 11.39}, {'connected_gene': 'NXPE1', 'score': 10.92}, {'connected_gene': 'TTC12', 'score': 10.88}, {'connected_gene': 'ENSG00000270179', 'score': 10.68}, {'connected_gene': 'ZBTB16', 'score': 3.29}, {'connected_gene': 'PIR38575', 'score': 0.37}, {'connected_gene': 'PIR57549', 'score': 0.28}, {'connected_gene': 'ENSG00000256947', 'score': 0.12}]
chr11 GH11I113862 113862250 113863362 0.83 [{'connected_gene': 'ATF4P4', 'score': 20.6}, {'connected_gene': 'NNMT', 'score': 9.98}, {'connected_gene': 'RNU6-1107P', 'score': 0.77}, {'connected_gene': 'GC11M113865', 'score': 0.77}, {'connected_gene': 'USP28', 'score': 0.39}]
chr11 GH11I114152 114152591 114174654 2.17 [{'connected_gene': 'ENSG00000270179', 'score': 18.05}, {'connected_gene': 'ZBTB16', 'score': 15.3}, {'connected_gene': 'NNMT', 'score': 10.77}, {'connected_gene': 'LOC105369499', 'score': 10.35}, {'connected_gene': 'TTC12', 'score': 9.88}, {'connected_gene': 'ZW10', 'score': 9.88}, {'connected_gene': 'CLDN25', 'score': 1.24}, {'connected_gene': 'LOC101928875', 'score': 0.39}, {'connected_gene': 'GC11M114060', 'score': 0.15}]
chr11 GH11I114201 114201874 114203042 0.57 [{'connected_gene': 'PIR38575', 'score': 550.77}, {'connected_gene': 'NNMT', 'score': 11.2}, {'connected_gene': 'PIR57549', 'score': 0.23}, {'connected_gene': 'ZBTB16', 'score': 0.11}]
chr11 GH11I114026 114026519 114026668 0.56 [{'connected_gene': 'GC11P114027', 'score': 550.77}, {'connected_gene': 'NNMT', 'score': 11.0}, {'connected_gene': 'HTR3A', 'score': 10.95}, {'connected_gene': 'GC11P114024', 'score': 0.77}]
chr11 GH11I113994 113994439 113994588 0.54 [{'connected_gene': 'GC11M113987', 'score': 550.77}, {'connected_gene': 'NNMT', 'score': 12.07}, {'connected_gene': 'HTR3A', 'score': 0.37}]
chr11 GH11I114200 114200020 114201745 0.69 [{'connected_gene': 'PIR38575', 'score': 550.77}, {'connected_gene': 'NNMT', 'score': 11.2}, {'connected_gene': 'LOC101928875', 'score': 0.31}, {'connected_gene': 'ZBTB16', 'score': 0.11}]
chr11 GH11I114304 114304194 114305431 0.43 [{'connected_gene': 'GC11P114306', 'score': 550.77}, {'connected_gene': 'NNMT', 'score': 14.99}, {'connected_gene': 'RBM7', 'score': 10.54}, {'connected_gene': 'ENSG00000255663', 'score': 10.54}, {'connected_gene': 'C11orf71', 'score': 10.54}, {'connected_gene': 'GC11M114263', 'score': 0.26}, {'connected_gene': 'ENSG00000256947', 'score': 0.23}]
chr11 GH11I114306 114306663 114309977 1.22 [{'connected_gene': 'GC11P114306', 'score': 550.77}, {'connected_gene': 'NNMT', 'score': 5.32}, {'connected_gene': 'GC11P114315', 'score': 0.44}, {'connected_gene': 'ENSG00000256947', 'score': 0.25}]
chr11 GH11I114253 114253054 114254049 0.2 [{'connected_gene': 'PIR57549', 'score': 550.77}, {'connected_gene': 'NNMT', 'score': 0.77}, {'connected_gene': 'ENSG00000256947', 'score': 0.15}]
chr11 GH11I114310 114310406 114311615 0.43 [{'connected_gene': 'GC11P114306', 'score': 0.77}, {'connected_gene': 'GC11P114315', 'score': 0.77}, {'connected_gene': 'ENSG00000256947', 'score': 0.25}, {'connected_gene': 'NNMT', 'score': 0.23}]
chr11 GH11I114262 114262799 114263850 0.69 [{'connected_gene': 'GC11M114263', 'score': 550.77}, {'connected_gene': 'HTR3A', 'score': 10.19}, {'connected_gene': 'RNU6-1107P', 'score': 9.15}, {'connected_gene': 'NNMT', 'score': 4.63}, {'connected_gene': 'ENSG00000256947', 'score': 0.16}]