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
ENST00000305253 [[8060179, 8060575], [8061191, 8061239], [8111156, 8111208], [8111615, 8111778], [8115592, 8115736], [8117044, 8117212], [8118231, 8118353], [8118774, 8118972], [8119260, 8119373], [8120304, 8120422], [8122049, 8122148], [8122372, 8122544], [8123032, 8127659]] [[8060420, 8060575], [8061191, 8061239], [8111156, 8111208], [8111615, 8111778], [8115592, 8115736], [8117044, 8117212], [8118231, 8118353], [8118774, 8118972], [8119260, 8119373], [8120304, 8120422], [8122049, 8122148], [8122372, 8122544], [8123032, 8123166]]
ENST00000534099 [[8040790, 8040905], [8111156, 8111208], [8111615, 8111778], [8115592, 8115736], [8117044, 8117212], [8118231, 8118353], [8118774, 8118972], [8119260, 8119373], [8120304, 8120422], [8122049, 8122148], [8122372, 8122544], [8123032, 8123327]] [[8040849, 8040905], [8111156, 8111208], [8111615, 8111778], [8115592, 8115736], [8117044, 8117212], [8118231, 8118353], [8118774, 8118972], [8119260, 8119373], [8120304, 8120422], [8122049, 8122148], [8122372, 8122544], [8123032, 8123166]]
ENST00000299506 [[8102908, 8103095], [8111156, 8111208], [8111615, 8111778], [8115592, 8115736], [8117044, 8117212], [8118231, 8118353], [8118774, 8118972], [8119260, 8119373], [8120304, 8120422], [8122049, 8122148], [8122372, 8122544], [8123032, 8123515]] [[8103057, 8103095], [8111156, 8111208], [8111615, 8111778], [8115592, 8115736], [8117044, 8117212], [8118231, 8118353], [8118774, 8118972], [8119260, 8119373], [8120304, 8120422], [8122049, 8122148], [8122372, 8122544], [8123032, 8123166]]
NM_003320 [[8060179, 8060575], [8061191, 8061239], [8111156, 8111208], [8111615, 8111778], [8115592, 8115736], [8117044, 8117212], [8118231, 8118353], [8118774, 8118972], [8119260, 8119373], [8120304, 8120422], [8122049, 8122148], [8122372, 8122544], [8123032, 8127654]] [[8060420, 8060575], [8061191, 8061239], [8111156, 8111208], [8111615, 8111778], [8115592, 8115736], [8117044, 8117212], [8118231, 8118353], [8118774, 8118972], [8119260, 8119373], [8120304, 8120422], [8122049, 8122148], [8122372, 8122544], [8123032, 8123166]]
NM_177972 [[8102908, 8103095], [8111156, 8111208], [8111615, 8111778], [8115592, 8115736], [8117044, 8117212], [8118231, 8118353], [8118774, 8118972], [8119260, 8119373], [8120304, 8120422], [8122049, 8122148], [8122372, 8122544], [8123032, 8127654]] [[8103057, 8103095], [8111156, 8111208], [8111615, 8111778], [8115592, 8115736], [8117044, 8117212], [8118231, 8118353], [8118774, 8118972], [8119260, 8119373], [8120304, 8120422], [8122049, 8122148], [8122372, 8122544], [8123032, 8123166]]
Promoter
Chrom Start End Description
chr11 8040739 8040815 CAGE_peak_4_at_TUB_5end
chr11 8040818 8040840 CAGE_peak_5_at_TUB_5end
chr11 8102749 8102769 CAGE_peak_2_at_TUB_5end
chr11 8102819 8102845 CAGE_peak_3_at_TUB_5end
chr11 8102846 8102892 CAGE_peak_1_at_TUB_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I007985 7985857 7988520 2.1 [{'connected_gene': 'EIF3F', 'score': 604.44}, {'connected_gene': 'SNORA3B', 'score': 44.32}, {'connected_gene': 'OLFML1', 'score': 32.72}, {'connected_gene': 'TMEM9B-AS1', 'score': 25.04}, {'connected_gene': 'ZNF214', 'score': 24.56}, {'connected_gene': 'RPL27A', 'score': 14.05}, {'connected_gene': 'ST5', 'score': 12.62}, {'connected_gene': 'CASC23', 'score': 10.36}, {'connected_gene': 'TUB', 'score': 10.34}, {'connected_gene': 'PIR63023', 'score': 0.44}, {'connected_gene': 'COX6CP5', 'score': 0.44}]
chr11 GH11I008091 8091572 8094673 1.07 [{'connected_gene': 'RIC3', 'score': 6.25}, {'connected_gene': 'PIR33685', 'score': 0.77}, {'connected_gene': 'PIR31183', 'score': 0.77}, {'connected_gene': 'TUB', 'score': 0.19}]
chr11 GH11I008204 8204499 8209136 1.75 [{'connected_gene': 'RIC3', 'score': 18.89}, {'connected_gene': 'LOC101927936', 'score': 11.0}, {'connected_gene': 'TUB', 'score': 9.52}, {'connected_gene': 'CASC23', 'score': 9.52}, {'connected_gene': 'EIF3F', 'score': 4.84}, {'connected_gene': 'GC11M008201', 'score': 0.77}, {'connected_gene': 'GC11P008198', 'score': 0.44}]
chr11 GH11I008137 8137864 8139384 0.31 [{'connected_gene': 'RIC3', 'score': 27.34}, {'connected_gene': 'LOC101927936', 'score': 11.55}, {'connected_gene': 'TUB', 'score': 9.99}, {'connected_gene': 'CASC23', 'score': 9.98}, {'connected_gene': 'PIR34942', 'score': 0.29}, {'connected_gene': 'GC11M008105', 'score': 0.29}]
chr11 GH11I008018 8018557 8020340 1.52 [{'connected_gene': 'TUB', 'score': 567.12}, {'connected_gene': 'GC11P008020', 'score': 550.77}, {'connected_gene': 'RIC3', 'score': 5.42}, {'connected_gene': 'OR10A3', 'score': 1.71}]
chr11 GH11I008067 8067931 8070022 0.99 [{'connected_gene': 'TUB', 'score': 17.82}, {'connected_gene': 'ENSG00000254921', 'score': 12.48}, {'connected_gene': 'CASC23', 'score': 11.47}, {'connected_gene': 'ENSG00000279391', 'score': 0.44}, {'connected_gene': 'TUB-AS1', 'score': 0.44}, {'connected_gene': 'GC11P008020', 'score': 0.25}]
chr11 GH11I008080 8080363 8083871 1.99 [{'connected_gene': 'TUB', 'score': 566.72}, {'connected_gene': 'CASC23', 'score': 11.26}, {'connected_gene': 'ENSG00000254921', 'score': 11.1}, {'connected_gene': 'LOC100506258', 'score': 6.46}, {'connected_gene': 'TRIM66', 'score': 4.82}, {'connected_gene': 'RIC3', 'score': 4.57}, {'connected_gene': 'ENSG00000279391', 'score': 0.77}, {'connected_gene': 'PIR31183', 'score': 0.44}, {'connected_gene': 'GC11P008020', 'score': 0.21}]
chr11 GH11I008070 8070929 8072514 0.52 [{'connected_gene': 'TUB', 'score': 7.06}, {'connected_gene': 'ENSG00000279391', 'score': 0.44}, {'connected_gene': 'TUB-AS1', 'score': 0.39}, {'connected_gene': 'GC11P008020', 'score': 0.23}]
chr11 GH11I008036 8035294 8035443 0.31 [{'connected_gene': 'TUB', 'score': 11.15}, {'connected_gene': 'ENSG00000254921', 'score': 0.77}, {'connected_gene': 'GC11P008020', 'score': 0.37}]
chr11 GH11I008035 8035467 8036303 0.31 [{'connected_gene': 'TUB', 'score': 10.92}, {'connected_gene': 'ENSG00000254921', 'score': 0.77}, {'connected_gene': 'GC11P008020', 'score': 0.37}]
chr11 GH11I008025 8025605 8026497 0.49 [{'connected_gene': 'TUB', 'score': 0.44}, {'connected_gene': 'GC11P008020', 'score': 0.44}, {'connected_gene': 'ENSG00000254921', 'score': 0.39}]
chr11 GH11I007962 7962622 7970843 1.42 [{'connected_gene': 'NLRP10', 'score': 561.23}, {'connected_gene': 'GC11M007966', 'score': 550.77}, {'connected_gene': 'OR10A3', 'score': 10.96}, {'connected_gene': 'CASC23', 'score': 9.9}, {'connected_gene': 'TUB', 'score': 9.88}, {'connected_gene': 'EIF3F', 'score': 0.77}]
chr11 GH11I007904 7904401 7908768 0.76 [{'connected_gene': 'LOC283299', 'score': 550.77}, {'connected_gene': 'PIR62490', 'score': 550.77}, {'connected_gene': 'NLRP10', 'score': 15.65}, {'connected_gene': 'OR10A6', 'score': 11.84}, {'connected_gene': 'OR10A3', 'score': 11.12}, {'connected_gene': 'OVCH2', 'score': 10.2}, {'connected_gene': 'CASC23', 'score': 9.79}, {'connected_gene': 'TUB', 'score': 9.79}, {'connected_gene': 'EIF3F', 'score': 4.51}]
chr11 GH11I007974 7974801 7975000 0.4 [{'connected_gene': 'OR10A3', 'score': 10.86}, {'connected_gene': 'CASC23', 'score': 9.55}, {'connected_gene': 'TUB', 'score': 9.55}, {'connected_gene': 'EIF3F', 'score': 0.77}, {'connected_gene': 'COX6CP5', 'score': 0.77}]
chr11 GH11I007973 7973034 7973183 0.31 [{'connected_gene': 'OR10A3', 'score': 10.86}, {'connected_gene': 'CASC23', 'score': 9.55}, {'connected_gene': 'TUB', 'score': 9.53}, {'connected_gene': 'EIF3F', 'score': 0.77}, {'connected_gene': 'COX6CP5', 'score': 0.77}]
chr11 GH11I008085 8085360 8087488 0.84 [{'connected_gene': 'CASC23', 'score': 11.26}, {'connected_gene': 'TUB', 'score': 11.26}, {'connected_gene': 'ENSG00000254921', 'score': 11.09}, {'connected_gene': 'RIC3', 'score': 6.18}, {'connected_gene': 'PIR31183', 'score': 0.77}, {'connected_gene': 'ENSG00000279391', 'score': 0.44}, {'connected_gene': 'GC11P008020', 'score': 0.2}]
chr11 GH11I008016 8016514 8016663 0.38 [{'connected_gene': 'CASC23', 'score': 550.77}, {'connected_gene': 'TUB', 'score': 0.77}]
chr11 GH11I008060 8060594 8061056 0.58 [{'connected_gene': 'TUB-AS1', 'score': 550.77}, {'connected_gene': 'CASC23', 'score': 10.88}, {'connected_gene': 'TUB', 'score': 10.88}, {'connected_gene': 'ENSG00000279391', 'score': 0.37}, {'connected_gene': 'GC11P008020', 'score': 0.26}]
chr11 GH11I007975 7975869 7979099 1.17 [{'connected_gene': 'COX6CP5', 'score': 550.77}, {'connected_gene': 'EIF3F', 'score': 11.67}, {'connected_gene': 'CASC23', 'score': 10.33}, {'connected_gene': 'TUB', 'score': 10.31}, {'connected_gene': 'OVCH2', 'score': 4.39}, {'connected_gene': 'PIR63023', 'score': 0.37}]
chr11 GH11I008102 8102082 8103510 0.2 [{'connected_gene': 'PIR42669', 'score': 550.77}, {'connected_gene': 'PIR38351', 'score': 550.77}, {'connected_gene': 'PIR42417', 'score': 550.77}, {'connected_gene': 'PIR46603', 'score': 550.77}, {'connected_gene': 'PIR39836', 'score': 550.77}, {'connected_gene': 'RIC3', 'score': 26.18}, {'connected_gene': 'TUB', 'score': 11.28}, {'connected_gene': 'CASC23', 'score': 11.27}, {'connected_gene': 'LOC101927936', 'score': 10.1}, {'connected_gene': 'PIR49098', 'score': 0.77}]
chr11 GH11I008094 8094907 8096580 0.2 [{'connected_gene': 'PIR33685', 'score': 550.77}, {'connected_gene': 'PIR44483', 'score': 550.77}, {'connected_gene': 'RIC3', 'score': 5.68}, {'connected_gene': 'PIR31183', 'score': 0.44}, {'connected_gene': 'TUB', 'score': 0.18}]
chr11 GH11I008099 8099414 8099563 0.76 [{'connected_gene': 'PIR49098', 'score': 550.77}, {'connected_gene': 'PIR44483', 'score': 550.77}, {'connected_gene': 'RIC3', 'score': 10.0}, {'connected_gene': 'PIR42669', 'score': 0.77}, {'connected_gene': 'TUB', 'score': 0.18}]
chr11 GH11I008097 8097032 8098296 0.4 [{'connected_gene': 'PIR49098', 'score': 550.77}, {'connected_gene': 'PIR33685', 'score': 550.77}, {'connected_gene': 'PIR44483', 'score': 550.77}, {'connected_gene': 'RIC3', 'score': 0.19}, {'connected_gene': 'TUB', 'score': 0.18}]
chr11 GH11I008098 8098374 8098703 0.4 [{'connected_gene': 'PIR49098', 'score': 550.77}, {'connected_gene': 'PIR33685', 'score': 550.77}, {'connected_gene': 'PIR44483', 'score': 550.77}, {'connected_gene': 'PIR42669', 'score': 0.77}, {'connected_gene': 'RIC3', 'score': 0.19}, {'connected_gene': 'TUB', 'score': 0.18}]
chr11 GH11I008103 8103776 8106458 0.43 [{'connected_gene': 'PIR38351', 'score': 550.77}, {'connected_gene': 'PIR34942', 'score': 550.77}, {'connected_gene': 'PIR37470', 'score': 550.77}, {'connected_gene': 'GC11M008105', 'score': 550.77}, {'connected_gene': 'PIR42417', 'score': 550.77}, {'connected_gene': 'PIR46603', 'score': 550.77}, {'connected_gene': 'PIR39836', 'score': 550.77}, {'connected_gene': 'RIC3', 'score': 24.14}, {'connected_gene': 'CASC23', 'score': 10.64}, {'connected_gene': 'TUB', 'score': 10.64}, {'connected_gene': 'LOC101927936', 'score': 10.1}]
chr11 GH11I008063 8063050 8063891 0.43 [{'connected_gene': 'ENSG00000254921', 'score': 12.51}, {'connected_gene': 'TUB', 'score': 11.5}, {'connected_gene': 'CASC23', 'score': 11.49}, {'connected_gene': 'TUB-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000279391', 'score': 0.39}, {'connected_gene': 'GC11P008020', 'score': 0.26}]
chr11 GH11I008033 8033274 8033463 0.73 [{'connected_gene': 'ENSG00000254921', 'score': 0.44}, {'connected_gene': 'TUB', 'score': 0.39}, {'connected_gene': 'GC11P008020', 'score': 0.39}]
chr11 GH11I008090 8090874 8091023 0.66 [{'connected_gene': 'PIR31183', 'score': 550.77}, {'connected_gene': 'PIR33685', 'score': 0.44}, {'connected_gene': 'TUB', 'score': 0.19}]
chr11 GH11I008038 8038662 8038721 0.73 [{'connected_gene': 'ENSG00000254921', 'score': 550.77}, {'connected_gene': 'TUB', 'score': 550.37}, {'connected_gene': 'GC11P008020', 'score': 0.37}]
chr11 GH11I008979 8979402 8979799 0.46 [{'connected_gene': 'GC11P008977', 'score': 550.77}, {'connected_gene': 'AKIP1', 'score': 16.1}, {'connected_gene': 'TUB', 'score': 12.97}, {'connected_gene': 'SCUBE2', 'score': 9.47}, {'connected_gene': 'NRIP3', 'score': 9.38}]
chr11 GH11I007900 7900397 7902764 0.54 [{'connected_gene': 'PIR32361', 'score': 550.77}, {'connected_gene': 'NLRP10', 'score': 16.11}, {'connected_gene': 'OR10A6', 'score': 11.42}, {'connected_gene': 'OR10A3', 'score': 11.0}, {'connected_gene': 'CASC23', 'score': 9.79}, {'connected_gene': 'TUB', 'score': 9.78}, {'connected_gene': 'OVCH2', 'score': 8.1}, {'connected_gene': 'LOC283299', 'score': 0.77}, {'connected_gene': 'PIR62490', 'score': 0.77}]

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