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
ENST00000533839 [[126138949, 126139186], [126145688, 126145765], [126145953, 126146114], [126146288, 126146372]] None
ENST00000263578 [[126139027, 126139186], [126141331, 126141552], [126142863, 126142974], [126143230, 126143349], [126144821, 126144916], [126145221, 126145323], [126145688, 126145765], [126145953, 126146114], [126146288, 126146418], [126146965, 126147070], [126147329, 126148019]] [[126139101, 126139186], [126141331, 126141552], [126142863, 126142974], [126143230, 126143349], [126144821, 126144916], [126145221, 126145323], [126145688, 126145765], [126145953, 126146114], [126146288, 126146418], [126146965, 126147070], [126147329, 126147584]]
ENST00000534011 [[126139029, 126139186], [126142372, 126142577], [126142863, 126142974], [126143230, 126143349], [126144825, 126144916], [126145221, 126145323], [126145688, 126145765], [126145953, 126146114], [126146288, 126146418], [126146965, 126147070], [126147329, 126148026]] None
ENST00000529802 [[126139051, 126139186], [126141331, 126141776]] None
ENST00000526525 [[126139065, 126139310], [126142863, 126143204]] None
ENST00000525083 [[126139065, 126139186], [126142863, 126142974], [126143230, 126143349], [126145221, 126145323], [126145688, 126145765], [126145953, 126146114], [126146288, 126146418], [126146892, 126147070], [126147329, 126147558]] None
ENST00000442061 [[126139065, 126139186], [126142863, 126142974], [126143230, 126143349], [126144821, 126144916], [126145221, 126145323], [126145688, 126145765], [126145953, 126146114], [126146288, 126146418], [126146965, 126147070], [126147329, 126147735]] [[126143323, 126143349], [126144821, 126144916], [126145221, 126145323], [126145688, 126145765], [126145953, 126146114], [126146288, 126146418], [126146965, 126147070], [126147329, 126147584]]
ENST00000525770 [[126139065, 126139186], [126142863, 126142974], [126143230, 126143349], [126144821, 126144916], [126145221, 126145323], [126145688, 126145765], [126145953, 126146114], [126146288, 126146418], [126146965, 126147070], [126147329, 126147735]] [[126139101, 126139186], [126142863, 126142925]]
ENST00000527004 [[126139084, 126139186], [126141331, 126141552], [126142863, 126142974], [126143233, 126143349], [126145221, 126145323], [126145688, 126145765], [126145953, 126146114], [126146288, 126146418], [126146965, 126147070], [126147329, 126147964]] [[126139101, 126139186], [126141331, 126141552], [126142863, 126142974], [126143233, 126143349], [126145221, 126145246]]
ENST00000526366 [[126139086, 126139186], [126141613, 126141750], [126142863, 126142974], [126143230, 126143349], [126144821, 126144907]] None
ENST00000524751 [[126139088, 126139310], [126142863, 126142974], [126143210, 126143349], [126144821, 126145244]] None
ENST00000532101 [[126139095, 126139186], [126141114, 126141552], [126142863, 126142974], [126143230, 126143349], [126144821, 126144916], [126145221, 126145323], [126145688, 126145762]] None
ENST00000532125 [[126139103, 126139310], [126141331, 126141552], [126142863, 126142974], [126143230, 126143349], [126144821, 126144916], [126145221, 126145323], [126145688, 126145765], [126145953, 126146114], [126146288, 126146418], [126146965, 126147070], [126147329, 126147826]] [[126139267, 126139310], [126141331, 126141552], [126142863, 126142974], [126143230, 126143349], [126144821, 126144916], [126145221, 126145323], [126145688, 126145765], [126145953, 126146114], [126146288, 126146418], [126146965, 126147070], [126147329, 126147584]]
ENST00000534315 [[126140839, 126141552], [126142863, 126142974], [126143230, 126143349], [126145221, 126145323], [126145688, 126145765], [126145953, 126146114], [126146288, 126146418], [126146965, 126147070], [126147329, 126148021]] None
ENST00000531257 [[126142928, 126142974], [126143230, 126143984]] None
ENST00000527875 [[126142983, 126143349], [126144821, 126145038]] None
ENST00000533395 [[126142985, 126143349], [126145221, 126145323], [126145688, 126145765], [126145953, 126146114]] None
ENST00000530642 [[126143808, 126145765], [126145953, 126146114], [126146288, 126146418], [126146965, 126147070], [126147329, 126148021]] None
ENST00000532590 [[126146806, 126147070], [126147329, 126147739]] None
NR_037647 [[126138934, 126139186], [126142863, 126142974], [126143230, 126143349], [126144821, 126144916], [126145221, 126145323], [126145688, 126145765], [126145953, 126146114], [126146288, 126146418], [126146965, 126147070], [126147329, 126148027]] None
NM_017547 [[126138934, 126139186], [126141331, 126141552], [126142863, 126142974], [126143230, 126143349], [126144821, 126144916], [126145221, 126145323], [126145688, 126145765], [126145953, 126146114], [126146288, 126146418], [126146965, 126147070], [126147329, 126148027]] [[126139101, 126139186], [126141331, 126141552], [126142863, 126142974], [126143230, 126143349], [126144821, 126144916], [126145221, 126145323], [126145688, 126145765], [126145953, 126146114], [126146288, 126146418], [126146965, 126147070], [126147329, 126147584]]
NR_037648 [[126139039, 126139310], [126141331, 126141552], [126142863, 126142974], [126143230, 126143349], [126144821, 126144916], [126145221, 126145323], [126145688, 126145765], [126145953, 126146114], [126146288, 126146418], [126146965, 126147070], [126147329, 126148027]] None
Promoter
Chrom Start End Description
chr11 126138954 126138970 CAGE_peak_3_at_FOXRED1_5end
chr11 126139005 126139086 CAGE_peak_1_at_FOXRED1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I126664 126664242 126664253 0.24 [{'connected_gene': 'KIRREL3', 'score': 1.6}, {'connected_gene': 'FOXRED1', 'score': 1.19}, {'connected_gene': 'GC11P126653', 'score': 0.39}, {'connected_gene': 'LOC101929427', 'score': 0.39}, {'connected_gene': 'GC11P126704', 'score': 0.26}]
chr11 GH11I126231 126231906 126232055 0.43 [{'connected_gene': 'FAM118B', 'score': 11.19}, {'connected_gene': 'RPUSD4', 'score': 11.19}, {'connected_gene': 'ENSG00000254694', 'score': 11.19}, {'connected_gene': 'SRPRA', 'score': 10.7}, {'connected_gene': 'FOXRED1', 'score': 10.7}, {'connected_gene': 'RN7SL351P', 'score': 0.39}, {'connected_gene': 'RNU4-86P', 'score': 0.37}]
chr11 GH11I126210 126210529 126213526 2.02 [{'connected_gene': 'FAM118B', 'score': 570.85}, {'connected_gene': 'RPUSD4', 'score': 550.77}, {'connected_gene': 'FOXRED1', 'score': 70.67}, {'connected_gene': 'ENSG00000254694', 'score': 12.97}, {'connected_gene': 'STT3A', 'score': 11.68}, {'connected_gene': 'SRPRA', 'score': 10.76}, {'connected_gene': 'CDON', 'score': 10.06}, {'connected_gene': 'RNU4-86P', 'score': 0.77}]
chr11 GH11I126188 126188150 126190295 1.1 [{'connected_gene': 'FAM118B', 'score': 35.32}, {'connected_gene': 'FOXRED1', 'score': 30.04}, {'connected_gene': 'RPUSD4', 'score': 16.07}, {'connected_gene': 'ENSG00000254833', 'score': 11.66}, {'connected_gene': 'ENSG00000254790', 'score': 11.3}, {'connected_gene': 'RNU4-86P', 'score': 11.19}, {'connected_gene': 'DCPS', 'score': 5.4}, {'connected_gene': 'ENSG00000254771', 'score': 0.44}, {'connected_gene': 'ENSG00000254694', 'score': 0.37}]
chr11 GH11I126203 126203206 126203355 0.63 [{'connected_gene': 'SRPRA', 'score': 10.27}, {'connected_gene': 'FOXRED1', 'score': 10.27}, {'connected_gene': 'ENSG00000254790', 'score': 10.06}, {'connected_gene': 'RPUSD4', 'score': 0.44}, {'connected_gene': 'ENSG00000254694', 'score': 0.44}, {'connected_gene': 'ENSG00000254771', 'score': 0.34}]
chr11 GH11I126384 126384058 126385298 0.2 [{'connected_gene': 'ST3GAL4', 'score': 19.61}, {'connected_gene': 'FOXRED1', 'score': 5.54}, {'connected_gene': 'ENSG00000278215', 'score': 0.44}, {'connected_gene': 'KIRREL3-AS1', 'score': 0.1}]
chr11 GH11I126393 126393880 126395435 0.6 [{'connected_gene': 'ST3GAL4', 'score': 7.28}, {'connected_gene': 'FOXRED1', 'score': 4.9}, {'connected_gene': 'ENSG00000278215', 'score': 0.37}, {'connected_gene': 'KIRREL3-AS1', 'score': 0.11}]
chr11 GH11I126398 126398539 126398598 0.7 [{'connected_gene': 'ST3GAL4', 'score': 550.26}, {'connected_gene': 'FOXRED1', 'score': 5.93}, {'connected_gene': 'ENSG00000278215', 'score': 0.34}, {'connected_gene': 'KIRREL3-AS1', 'score': 0.11}]
chr11 GH11I126385 126385726 126388091 0.97 [{'connected_gene': 'ST3GAL4', 'score': 19.86}, {'connected_gene': 'FOXRED1', 'score': 4.54}, {'connected_gene': 'ENSG00000278215', 'score': 0.39}, {'connected_gene': 'KIRREL3-AS1', 'score': 0.1}]
chr11 GH11I126390 126390680 126393559 1.03 [{'connected_gene': 'ST3GAL4', 'score': 19.84}, {'connected_gene': 'FOXRED1', 'score': 11.55}, {'connected_gene': 'ENSG00000278215', 'score': 0.37}, {'connected_gene': 'KIRREL3-AS1', 'score': 0.1}]
chr11 GH11I126350 126350337 126361823 2.44 [{'connected_gene': 'ST3GAL4', 'score': 561.62}, {'connected_gene': 'GSEC', 'score': 550.77}, {'connected_gene': 'HP11014', 'score': 46.58}, {'connected_gene': 'TIRAP', 'score': 37.84}, {'connected_gene': 'STT3A', 'score': 30.19}, {'connected_gene': 'FOXRED1', 'score': 15.3}, {'connected_gene': 'DCPS', 'score': 11.91}, {'connected_gene': 'FAM118B', 'score': 9.93}, {'connected_gene': 'ENSG00000278215', 'score': 0.34}]
chr11 GH11I126399 126399433 126407664 1.34 [{'connected_gene': 'ST3GAL4', 'score': 558.72}, {'connected_gene': 'TIRAP', 'score': 12.48}, {'connected_gene': 'HP11014', 'score': 10.95}, {'connected_gene': 'FOXRED1', 'score': 6.46}, {'connected_gene': 'FAM118B', 'score': 5.65}, {'connected_gene': 'ENSG00000278215', 'score': 0.31}, {'connected_gene': 'KIRREL3-AS1', 'score': 0.11}]
chr11 GH11I126363 126362936 126365635 1.03 [{'connected_gene': 'ST3GAL4', 'score': 14.47}, {'connected_gene': 'HP11014', 'score': 11.9}, {'connected_gene': 'DCPS', 'score': 11.89}, {'connected_gene': 'FAM118B', 'score': 7.9}, {'connected_gene': 'FOXRED1', 'score': 5.65}, {'connected_gene': 'ENSG00000278215', 'score': 0.39}]
chr11 GH11I126196 126196198 126198785 0.58 [{'connected_gene': 'FOXRED1', 'score': 57.19}, {'connected_gene': 'FAM118B', 'score': 26.56}, {'connected_gene': 'ENSG00000254790', 'score': 10.38}, {'connected_gene': 'SRPRA', 'score': 10.21}, {'connected_gene': 'DDX25', 'score': 10.16}, {'connected_gene': 'PUS3', 'score': 10.16}, {'connected_gene': 'DCPS', 'score': 5.36}, {'connected_gene': 'ENSG00000254694', 'score': 0.39}, {'connected_gene': 'ENSG00000254771', 'score': 0.37}]
chr11 GH11I126310 126310266 126313287 1.41 [{'connected_gene': 'FOXRED1', 'score': 42.74}, {'connected_gene': 'FAM118B', 'score': 25.5}, {'connected_gene': 'DCPS', 'score': 10.57}, {'connected_gene': 'TIRAP', 'score': 5.2}, {'connected_gene': 'SRPRA', 'score': 1.54}, {'connected_gene': 'HP11014', 'score': 0.44}, {'connected_gene': 'PIR55528', 'score': 0.31}]
chr11 GH11I126335 126335012 126338833 1.09 [{'connected_gene': 'FOXRED1', 'score': 21.89}, {'connected_gene': 'FAM118B', 'score': 21.44}, {'connected_gene': 'DCPS', 'score': 9.22}, {'connected_gene': 'PIR55528', 'score': 0.77}, {'connected_gene': 'HP11014', 'score': 0.29}]
chr11 GH11I126162 126162227 126166431 1.35 [{'connected_gene': 'FOXRED1', 'score': 5.3}, {'connected_gene': 'FAM118B', 'score': 4.71}, {'connected_gene': 'PATE3', 'score': 2.91}, {'connected_gene': 'PATE2', 'score': 1.88}, {'connected_gene': 'ENSG00000254833', 'score': 0.77}, {'connected_gene': 'ENSG00000254771', 'score': 0.37}]
chr11 GH11I126266 126266902 126270172 2.04 [{'connected_gene': 'FOXRED1', 'score': 604.88}, {'connected_gene': 'SRPRA', 'score': 550.77}, {'connected_gene': 'FAM118B', 'score': 32.42}, {'connected_gene': 'TIRAP', 'score': 12.75}, {'connected_gene': 'HP11014', 'score': 11.07}, {'connected_gene': 'RN7SL351P', 'score': 0.34}]
chr11 GH11I126317 126317184 126320389 1.34 [{'connected_gene': 'FOXRED1', 'score': 48.76}, {'connected_gene': 'ST3GAL4', 'score': 12.36}, {'connected_gene': 'TIRAP', 'score': 12.16}, {'connected_gene': 'ENSG00000254694', 'score': 10.88}, {'connected_gene': 'SRPRA', 'score': 10.37}, {'connected_gene': 'DCPS', 'score': 6.32}, {'connected_gene': 'FAM118B', 'score': 4.61}, {'connected_gene': 'HYLS1', 'score': 1.24}, {'connected_gene': 'HP11014', 'score': 0.39}, {'connected_gene': 'PIR55528', 'score': 0.34}]
chr11 GH11I126395 126395866 126395991 0.4 [{'connected_gene': 'FOXRED1', 'score': 5.47}, {'connected_gene': 'ENSG00000278215', 'score': 0.37}, {'connected_gene': 'ST3GAL4', 'score': 0.26}, {'connected_gene': 'KIRREL3-AS1', 'score': 0.11}]
chr11 GH11I126331 126331506 126333163 0.94 [{'connected_gene': 'FOXRED1', 'score': 8.32}, {'connected_gene': 'PIR55528', 'score': 0.44}, {'connected_gene': 'DCPS', 'score': 0.31}, {'connected_gene': 'HP11014', 'score': 0.31}]
chr11 GH11I126333 126333240 126333989 0.43 [{'connected_gene': 'FOXRED1', 'score': 38.47}, {'connected_gene': 'DCPS', 'score': 6.28}, {'connected_gene': 'PIR55528', 'score': 0.44}, {'connected_gene': 'HP11014', 'score': 0.31}]
chr11 GH11I126327 126327097 126327675 0.66 [{'connected_gene': 'FOXRED1', 'score': 9.27}, {'connected_gene': 'PIR55528', 'score': 0.39}, {'connected_gene': 'DCPS', 'score': 0.34}, {'connected_gene': 'HP11014', 'score': 0.34}]
chr11 GH11I126118 126118216 126120035 0.2 [{'connected_gene': 'CDON', 'score': 11.03}, {'connected_gene': 'ENSG00000254790', 'score': 10.54}, {'connected_gene': 'FOXRED1', 'score': 4.87}, {'connected_gene': 'ENSG00000261257', 'score': 0.37}, {'connected_gene': 'LOC105369591', 'score': 0.34}]
chr11 GH11I126339 126339374 126350222 1.64 [{'connected_gene': 'DCPS', 'score': 21.02}, {'connected_gene': 'FOXRED1', 'score': 18.43}, {'connected_gene': 'TIRAP', 'score': 16.08}, {'connected_gene': 'FAM118B', 'score': 13.82}, {'connected_gene': 'STT3A', 'score': 13.33}, {'connected_gene': 'HP11014', 'score': 12.24}, {'connected_gene': 'ST3GAL4', 'score': 7.23}, {'connected_gene': 'GC11P126349', 'score': 0.77}, {'connected_gene': 'PIR55528', 'score': 0.44}, {'connected_gene': 'GSEC', 'score': 0.39}]
chr11 GH11I126328 126328408 126330546 0.69 [{'connected_gene': 'DCPS', 'score': 8.64}, {'connected_gene': 'FOXRED1', 'score': 8.38}, {'connected_gene': 'PIR55528', 'score': 0.44}, {'connected_gene': 'HP11014', 'score': 0.31}]
chr11 GH11I126280 126280368 126284525 1.95 [{'connected_gene': 'TIRAP', 'score': 550.77}, {'connected_gene': 'FOXRED1', 'score': 53.11}, {'connected_gene': 'FAM118B', 'score': 42.33}, {'connected_gene': 'ENSG00000254694', 'score': 21.8}, {'connected_gene': 'DCPS', 'score': 18.95}, {'connected_gene': 'HP11014', 'score': 11.65}, {'connected_gene': 'RPUSD4', 'score': 10.74}, {'connected_gene': 'RNU4-86P', 'score': 10.04}, {'connected_gene': 'ENSG00000254905', 'score': 0.39}]
chr11 GH11I126214 126214426 126215549 0.91 [{'connected_gene': 'RNU4-86P', 'score': 550.77}, {'connected_gene': 'FOXRED1', 'score': 54.36}, {'connected_gene': 'FAM118B', 'score': 0.77}, {'connected_gene': 'RN7SL351P', 'score': 0.29}]
chr11 GH11I126194 126194246 126194291 0.6 [{'connected_gene': 'RNU4-86P', 'score': 11.22}, {'connected_gene': 'ENSG00000254790', 'score': 11.07}, {'connected_gene': 'FOXRED1', 'score': 7.36}, {'connected_gene': 'ENSG00000254771', 'score': 0.39}, {'connected_gene': 'ENSG00000254694', 'score': 0.39}]
chr11 GH11I126246 126246746 126246895 0.2 [{'connected_gene': 'RN7SL351P', 'score': 550.77}, {'connected_gene': 'FAM118B', 'score': 11.04}, {'connected_gene': 'RPUSD4', 'score': 11.04}, {'connected_gene': 'ENSG00000254694', 'score': 11.04}, {'connected_gene': 'RNU4-86P', 'score': 10.7}, {'connected_gene': 'DDX25', 'score': 9.59}, {'connected_gene': 'PUS3', 'score': 9.59}, {'connected_gene': 'DCPS', 'score': 6.53}, {'connected_gene': 'FOXRED1', 'score': 0.34}]
chr11 GH11I126135 126135906 126141726 1.08 [{'connected_gene': 'LOC105369591', 'score': 550.77}, {'connected_gene': 'CDON', 'score': 6.12}, {'connected_gene': 'FAM118B', 'score': 6.09}, {'connected_gene': 'FOXRED1', 'score': 5.23}, {'connected_gene': 'SRPRA', 'score': 4.46}, {'connected_gene': 'GC11M126140', 'score': 0.44}, {'connected_gene': 'ENSG00000261257', 'score': 0.28}]
chr11 GH11I126305 126305605 126306106 0.88 [{'connected_gene': 'HP11014', 'score': 550.77}, {'connected_gene': 'FOXRED1', 'score': 39.48}, {'connected_gene': 'FAM118B', 'score': 26.98}, {'connected_gene': 'DCPS', 'score': 2.25}, {'connected_gene': 'HYLS1', 'score': 1.41}, {'connected_gene': 'PIR55528', 'score': 0.29}]
chr11 GH11I126478 126478001 126478200 0.31 [{'connected_gene': 'HP11014', 'score': 12.15}, {'connected_gene': 'ENSG00000254905', 'score': 12.14}, {'connected_gene': 'TIRAP', 'score': 12.14}, {'connected_gene': 'FOXRED1', 'score': 9.53}, {'connected_gene': 'SRPRA', 'score': 9.53}, {'connected_gene': 'KIRREL3-AS1', 'score': 0.2}, {'connected_gene': 'ENSG00000278215', 'score': 0.15}, {'connected_gene': 'ST3GAL4', 'score': 0.13}, {'connected_gene': 'KIRREL3', 'score': 0.03}]
chr11 GH11I126480 126480401 126481495 1.27 [{'connected_gene': 'HP11014', 'score': 12.15}, {'connected_gene': 'ENSG00000254905', 'score': 12.14}, {'connected_gene': 'TIRAP', 'score': 12.14}, {'connected_gene': 'DCPS', 'score': 11.13}, {'connected_gene': 'KIRREL3', 'score': 9.68}, {'connected_gene': 'FOXRED1', 'score': 9.52}, {'connected_gene': 'SRPRA', 'score': 9.52}, {'connected_gene': 'KIRREL3-AS1', 'score': 0.21}, {'connected_gene': 'ENSG00000278215', 'score': 0.15}, {'connected_gene': 'ST3GAL4', 'score': 0.13}]
chr11 GH11I126157 126157381 126160959 1.31 [{'connected_gene': 'ENSG00000254833', 'score': 550.77}, {'connected_gene': 'FAM118B', 'score': 7.31}, {'connected_gene': 'FOXRED1', 'score': 4.53}, {'connected_gene': 'GC11M126140', 'score': 0.39}]
chr11 GH11I126374 126374403 126375973 0.2 [{'connected_gene': 'ENSG00000278215', 'score': 550.77}, {'connected_gene': 'ST3GAL4', 'score': 8.84}, {'connected_gene': 'FOXRED1', 'score': 7.26}, {'connected_gene': 'CHEK1', 'score': 4.37}]
chr11 GH11I126145 126145953 126149072 0.91 [{'connected_gene': 'GC11M126140', 'score': 550.77}, {'connected_gene': 'FOXRED1', 'score': 5.76}, {'connected_gene': 'LOC105369591', 'score': 0.44}]
chr11 GH11I126153 126152896 126155377 1.11 [{'connected_gene': 'ENSG00000254694', 'score': 24.91}, {'connected_gene': 'CDON', 'score': 22.48}, {'connected_gene': 'FOXRED1', 'score': 5.6}, {'connected_gene': 'ENSG00000254833', 'score': 0.44}, {'connected_gene': 'GC11M126140', 'score': 0.44}]

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