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
ENST00000525130 [[50310125, 50310631], [50311670, 50311745], [50311830, 50311895], [50311973, 50312080], [50312419, 50312515], [50312634, 50312832], [50314619, 50314724], [50314887, 50314956], [50315871, 50315993], [50316252, 50316447]] [[50314928, 50314956], [50315871, 50315993], [50316252, 50316363]]
ENST00000529634 [[50310141, 50310631], [50311371, 50311416], [50311670, 50311748], [50311830, 50311896]] [[50311390, 50311416], [50311670, 50311748], [50311830, 50311896]]
ENST00000528094 [[50310146, 50310631], [50311670, 50311745], [50311830, 50311895], [50311973, 50312080], [50312419, 50312515], [50312634, 50312832], [50314619, 50314724], [50314887, 50314956], [50315894, 50315993], [50316252, 50316432]] [[50310407, 50310631], [50311670, 50311745], [50311830, 50311895], [50311973, 50312080], [50312419, 50312515], [50312634, 50312832], [50314619, 50314724], [50314887, 50314956], [50315894, 50315993], [50316252, 50316363]]
ENST00000533418 [[50310146, 50310631], [50311670, 50311745], [50311830, 50311895], [50311973, 50312080], [50312419, 50312515], [50312634, 50312832], [50314619, 50314724], [50314887, 50314956], [50315507, 50315592], [50315871, 50315993], [50316389, 50316506]] [[50310407, 50310631], [50311670, 50311745], [50311830, 50311895], [50311973, 50312080], [50312419, 50312515], [50312634, 50312832], [50314619, 50314724], [50314887, 50314956], [50315507, 50315592], [50315871, 50315954]]
ENST00000525370 [[50310149, 50310631], [50311670, 50311748], [50311830, 50311895], [50311973, 50312080], [50312419, 50312515], [50312634, 50312832], [50314619, 50314724], [50314887, 50314956], [50315871, 50315993], [50316252, 50316413]] [[50314928, 50314956], [50315871, 50315993], [50316252, 50316363]]
ENST00000313777 [[50310153, 50310631], [50311670, 50311745], [50311830, 50311895], [50311973, 50312080], [50312419, 50312515], [50312634, 50312832], [50314619, 50314724], [50314887, 50314956], [50315507, 50315592], [50315871, 50315993], [50316252, 50316527]] [[50310407, 50310631], [50311670, 50311745], [50311830, 50311895], [50311973, 50312080], [50312419, 50312515], [50312634, 50312832], [50314619, 50314724], [50314887, 50314956], [50315507, 50315592], [50315871, 50315993], [50316252, 50316363]]
ENST00000377092 [[50310176, 50310631], [50311670, 50311745], [50311830, 50311895], [50311973, 50312080], [50312419, 50312515], [50312634, 50312832], [50314619, 50314724], [50314887, 50314956], [50315507, 50315592], [50315894, 50315993], [50316252, 50316530]] [[50315565, 50315592], [50315894, 50315993], [50316252, 50316363]]
ENST00000445575 [[50310337, 50310396], [50310533, 50310535], [50310561, 50310631], [50311670, 50311745], [50311830, 50311895], [50311973, 50312080], [50312419, 50312515], [50312634, 50312832], [50314619, 50314724], [50314887, 50314956], [50315507, 50315592], [50315871, 50315993], [50316252, 50316567]] [[50310337, 50310396], [50310533, 50310535], [50310561, 50310631], [50311670, 50311745], [50311830, 50311895], [50311973, 50312080], [50312419, 50312515], [50312634, 50312832], [50314619, 50314724], [50314887, 50314956], [50315507, 50315592], [50315871, 50315993], [50316252, 50316363]]
ENST00000534138 [[50311379, 50311745], [50311830, 50311895], [50311973, 50312082]] None
ENST00000527973 [[50311875, 50311895], [50311973, 50312080], [50312419, 50312515], [50312634, 50312832], [50312970, 50313122]] None
ENST00000528043 [[50312651, 50312832], [50314619, 50314748], [50314887, 50314956], [50315507, 50315592], [50315871, 50315993], [50316389, 50316506]] [[50314724, 50314748], [50314887, 50314956], [50315507, 50315592], [50315871, 50315954]]
ENST00000531017 [[50314292, 50314724], [50314887, 50314956], [50315507, 50315592], [50315871, 50315993], [50316252, 50316566]] None
ENST00000527585 [[50314619, 50314724], [50314887, 50314956], [50315507, 50315592], [50316252, 50316543]] [[50315565, 50315592], [50316252, 50316363]]
ENST00000534008 [[50314621, 50314748], [50314887, 50314956], [50315507, 50315592], [50315871, 50315993], [50316252, 50316498]] None
ENST00000529302 [[50314637, 50314724], [50314887, 50314956], [50315507, 50315592], [50315894, 50315993], [50316863, 50317069], [50320607, 50320633]] [[50314637, 50314724], [50314887, 50314956], [50315507, 50315525]]
ENST00000526575 [[50314640, 50314748], [50314887, 50314956], [50315871, 50315993], [50316252, 50316435]] [[50314928, 50314956], [50315871, 50315993], [50316252, 50316363]]
ENST00000525800 [[50314687, 50314724], [50314887, 50314956], [50315507, 50315592], [50315703, 50315993], [50316389, 50316492]] [[50315816, 50315954]]
ENST00000527111 [[50314954, 50314956], [50315507, 50315592], [50315703, 50315993], [50316252, 50316556]] [[50315816, 50315993], [50316252, 50316363]]
ENST00000526435 [[50315536, 50315592], [50315703, 50315942], [50316252, 50316541]] [[50315816, 50315942], [50316252, 50316363]]
NM_025129 [[50310122, 50310631], [50311670, 50311745], [50311830, 50311895], [50311973, 50312080], [50312419, 50312515], [50312634, 50312832], [50314619, 50314724], [50314887, 50314956], [50315507, 50315592], [50315871, 50315993], [50316252, 50316567]] [[50310407, 50310631], [50311670, 50311745], [50311830, 50311895], [50311973, 50312080], [50312419, 50312515], [50312634, 50312832], [50314619, 50314724], [50314887, 50314956], [50315507, 50315592], [50315871, 50315993], [50316252, 50316363]]
NR_033269 [[50310122, 50310631], [50311670, 50311745], [50311830, 50311895], [50311973, 50312080], [50312419, 50312515], [50312634, 50312832], [50314619, 50314724], [50314887, 50314956], [50315871, 50315993], [50316252, 50316567]] None
NM_001171937 [[50310122, 50310631], [50311670, 50311745], [50311830, 50311895], [50311973, 50312080], [50312419, 50312515], [50312634, 50312832], [50314619, 50314724], [50314887, 50314956], [50315894, 50315993], [50316252, 50316567]] [[50310407, 50310631], [50311670, 50311745], [50311830, 50311895], [50311973, 50312080], [50312419, 50312515], [50312634, 50312832], [50314619, 50314724], [50314887, 50314956], [50315894, 50315993], [50316252, 50316363]]
Promoter
Chrom Start End Description
chr19 50312028 50312038 CAGE_peak_11_at_FUZ_5end
chr19 50312039 50312109 CAGE_peak_2_at_FUZ_5end
chr19 50312115 50312125 CAGE_peak_12_at_FUZ_5end
chr19 50316423 50316442 CAGE_peak_3_at_FUZ_5end
chr19 50316489 50316501 CAGE_peak_5_at_FUZ_5end
chr19 50316517 50316562 CAGE_peak_1_at_FUZ_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I049816 49816268 49821222 2.55 [{'connected_gene': 'FUZ', 'score': 561.55}, {'connected_gene': 'MED25', 'score': 559.52}, {'connected_gene': 'PRR12', 'score': 33.42}, {'connected_gene': 'PTOV1-AS2', 'score': 23.76}, {'connected_gene': 'PNKP', 'score': 23.68}, {'connected_gene': 'PTOV1', 'score': 22.59}, {'connected_gene': 'SNRNP70', 'score': 20.42}, {'connected_gene': 'PIH1D1', 'score': 18.62}, {'connected_gene': 'POLD1', 'score': 15.99}, {'connected_gene': 'NUP62', 'score': 13.8}, {'connected_gene': 'SNORD35A', 'score': 13.24}, {'connected_gene': 'RNU6-841P', 'score': 11.77}, {'connected_gene': 'AP2A1', 'score': 11.77}, {'connected_gene': 'TSKS', 'score': 11.76}, {'connected_gene': 'SNORD35B', 'score': 11.27}, {'connected_gene': 'PRMT1', 'score': 11.22}, {'connected_gene': 'ALDH16A1', 'score': 9.93}, {'connected_gene': 'SCAF1', 'score': 9.92}, {'connected_gene': 'PTOV1-AS1', 'score': 7.55}, {'connected_gene': 'ATF5', 'score': 4.71}, {'connected_gene': 'NTF4', 'score': 4.34}, {'connected_gene': 'MIR6800', 'score': 0.39}]
chr19 GH19I050300 50300964 50301153 0.69 [{'connected_gene': 'FUZ', 'score': 4.82}, {'connected_gene': 'GC19P050308', 'score': 0.44}, {'connected_gene': 'PIR48748', 'score': 0.28}, {'connected_gene': 'MYH14', 'score': 0.14}]
chr19 GH19I049812 49812166 49814985 2.41 [{'connected_gene': 'FUZ', 'score': 560.69}, {'connected_gene': 'PRMT1', 'score': 22.22}, {'connected_gene': 'PTOV1', 'score': 13.15}, {'connected_gene': 'CPT1C', 'score': 11.07}, {'connected_gene': 'ADM5', 'score': 11.07}, {'connected_gene': 'TSKS', 'score': 10.44}, {'connected_gene': 'AP2A1', 'score': 10.03}, {'connected_gene': 'PTOV1-AS2', 'score': 8.97}, {'connected_gene': 'PTOV1-AS1', 'score': 8.3}, {'connected_gene': 'PTH2', 'score': 2.28}, {'connected_gene': 'LOC105372435', 'score': 0.77}]
chr19 GH19I049775 49775224 49776862 1.07 [{'connected_gene': 'FUZ', 'score': 8.63}, {'connected_gene': 'AP2A1', 'score': 6.62}, {'connected_gene': 'MIR6799', 'score': 0.37}]
chr19 GH19I049810 49810930 49812034 0.62 [{'connected_gene': 'FUZ', 'score': 13.0}, {'connected_gene': 'PTOV1-AS2', 'score': 8.67}, {'connected_gene': 'LOC105372435', 'score': 0.77}]
chr19 GH19I050695 50695166 50695581 0.76 [{'connected_gene': 'ASPDH', 'score': 19.0}, {'connected_gene': 'SYT3', 'score': 15.73}, {'connected_gene': 'KCNC3', 'score': 14.8}, {'connected_gene': 'LRRC4B', 'score': 13.31}, {'connected_gene': 'SPACA6P-AS', 'score': 11.36}, {'connected_gene': 'FUZ', 'score': 9.95}, {'connected_gene': 'SHANK1', 'score': 3.95}, {'connected_gene': 'KLK6', 'score': 2.92}, {'connected_gene': 'PIR41386', 'score': 0.44}]
chr19 GH19I049848 49848051 49848973 1.07 [{'connected_gene': 'PTOV1', 'score': 550.77}, {'connected_gene': 'PIR35655', 'score': 550.77}, {'connected_gene': 'GC19M049851', 'score': 550.77}, {'connected_gene': 'PRR12', 'score': 13.33}, {'connected_gene': 'SNRNP70', 'score': 12.41}, {'connected_gene': 'MED25', 'score': 12.22}, {'connected_gene': 'FUZ', 'score': 12.22}, {'connected_gene': 'CPT1C', 'score': 11.09}, {'connected_gene': 'ADM5', 'score': 11.09}, {'connected_gene': 'PRMT1', 'score': 11.08}, {'connected_gene': 'PIH1D1', 'score': 9.76}, {'connected_gene': 'PTOV1-AS1', 'score': 0.77}, {'connected_gene': 'MIR6800', 'score': 0.37}]
chr19 GH19I050718 50718178 50719801 1.5 [{'connected_gene': 'SHANK1', 'score': 554.08}, {'connected_gene': 'CLEC11A', 'score': 15.65}, {'connected_gene': 'SPACA6P-AS', 'score': 11.36}, {'connected_gene': 'FUZ', 'score': 9.95}, {'connected_gene': 'SYT3', 'score': 7.13}, {'connected_gene': 'LRRC4B', 'score': 6.14}, {'connected_gene': 'ASPDH', 'score': 4.48}, {'connected_gene': 'KCNC3', 'score': 2.99}, {'connected_gene': 'PIR41386', 'score': 0.37}]
chr19 GH19I050719 50719844 50719913 0.64 [{'connected_gene': 'SHANK1', 'score': 550.77}, {'connected_gene': 'SPACA6P-AS', 'score': 11.36}, {'connected_gene': 'FUZ', 'score': 9.95}, {'connected_gene': 'CLEC11A', 'score': 0.77}]
chr19 GH19I050328 50328644 50334561 2.6 [{'connected_gene': 'KCNC3', 'score': 569.55}, {'connected_gene': 'NR1H2', 'score': 552.63}, {'connected_gene': 'LOC105372437', 'score': 550.77}, {'connected_gene': 'NUP62', 'score': 55.03}, {'connected_gene': 'PRR12', 'score': 50.28}, {'connected_gene': 'POLD1', 'score': 38.82}, {'connected_gene': 'ENSG00000268047', 'score': 25.05}, {'connected_gene': 'PTOV1-AS2', 'score': 23.11}, {'connected_gene': 'SNORD35A', 'score': 19.83}, {'connected_gene': 'CTU1', 'score': 19.51}, {'connected_gene': 'PNKP', 'score': 18.9}, {'connected_gene': 'ZNF473', 'score': 18.27}, {'connected_gene': 'PIH1D1', 'score': 17.86}, {'connected_gene': 'CPT1C', 'score': 15.07}, {'connected_gene': 'NAPSB', 'score': 12.46}, {'connected_gene': 'AKT1S1', 'score': 11.26}, {'connected_gene': 'IRF3', 'score': 11.22}, {'connected_gene': 'SNORD35B', 'score': 10.82}, {'connected_gene': 'MED25', 'score': 10.09}, {'connected_gene': 'ALDH16A1', 'score': 10.06}, {'connected_gene': 'FUZ', 'score': 9.96}, {'connected_gene': 'ADM5', 'score': 9.88}, {'connected_gene': 'PRRG2', 'score': 5.14}, {'connected_gene': 'SYT3', 'score': 3.13}, {'connected_gene': 'LRRC4B', 'score': 2.1}, {'connected_gene': 'ASPDH', 'score': 1.51}, {'connected_gene': 'MYH14', 'score': 1.51}, {'connected_gene': 'IL4I1', 'score': 1.37}, {'connected_gene': 'GPR32', 'score': 1.31}, {'connected_gene': 'SHANK1', 'score': 1.21}]
chr19 GH19I050727 50727830 50729133 1.11 [{'connected_gene': 'GPR32', 'score': 12.18}, {'connected_gene': 'SNORD88A', 'score': 10.94}, {'connected_gene': 'SNORD88C', 'score': 10.94}, {'connected_gene': 'SNORD88B', 'score': 10.94}, {'connected_gene': 'C19orf48', 'score': 10.71}, {'connected_gene': 'LINC01869', 'score': 10.71}, {'connected_gene': 'KLK1', 'score': 10.37}, {'connected_gene': 'KLK15', 'score': 10.36}, {'connected_gene': 'FUZ', 'score': 5.51}, {'connected_gene': 'CLEC11A', 'score': 0.44}, {'connected_gene': 'GPR32P1', 'score': 0.31}]
chr19 GH19I049825 49825975 49827414 0.31 [{'connected_gene': 'PNKP', 'score': 23.33}, {'connected_gene': 'PTOV1', 'score': 12.24}, {'connected_gene': 'CPT1C', 'score': 11.17}, {'connected_gene': 'ADM5', 'score': 11.17}, {'connected_gene': 'PRMT1', 'score': 11.15}, {'connected_gene': 'FUZ', 'score': 9.84}, {'connected_gene': 'MED25', 'score': 8.79}, {'connected_gene': 'MIR6800', 'score': 0.44}]
chr19 GH19I049865 49865032 49871255 2.3 [{'connected_gene': 'PNKP', 'score': 596.57}, {'connected_gene': 'NUP62', 'score': 81.06}, {'connected_gene': 'POLD1', 'score': 52.88}, {'connected_gene': 'PRR12', 'score': 45.13}, {'connected_gene': 'PTOV1-AS2', 'score': 42.59}, {'connected_gene': 'SNRNP70', 'score': 41.23}, {'connected_gene': 'SNORD35A', 'score': 34.72}, {'connected_gene': 'ENSG00000268047', 'score': 27.39}, {'connected_gene': 'SNORD35B', 'score': 25.74}, {'connected_gene': 'AKT1S1', 'score': 23.91}, {'connected_gene': 'ALDH16A1', 'score': 23.59}, {'connected_gene': 'IRF3', 'score': 22.92}, {'connected_gene': 'ZNF473', 'score': 22.58}, {'connected_gene': 'PIH1D1', 'score': 21.51}, {'connected_gene': 'PRMT1', 'score': 19.05}, {'connected_gene': 'TSKS', 'score': 14.64}, {'connected_gene': 'VRK3', 'score': 12.29}, {'connected_gene': 'NOSIP', 'score': 11.39}, {'connected_gene': 'RUVBL2', 'score': 11.11}, {'connected_gene': 'DKKL1', 'score': 10.84}, {'connected_gene': 'BAX', 'score': 10.64}, {'connected_gene': 'ADM5', 'score': 10.43}, {'connected_gene': 'SLC6A16', 'score': 10.09}, {'connected_gene': 'MED25', 'score': 6.97}, {'connected_gene': 'FUZ', 'score': 5.25}, {'connected_gene': 'PIR46791', 'score': 0.44}]
chr19 GH19I049804 49804996 49810473 1.82 [{'connected_gene': 'LOC105372435', 'score': 564.96}, {'connected_gene': 'PIR61442', 'score': 550.77}, {'connected_gene': 'PRR12', 'score': 14.12}, {'connected_gene': 'RPS11', 'score': 13.02}, {'connected_gene': 'SNORD35A', 'score': 12.36}, {'connected_gene': 'RPL13A', 'score': 12.28}, {'connected_gene': 'PIH1D1', 'score': 11.94}, {'connected_gene': 'SNORD35B', 'score': 10.19}, {'connected_gene': 'FUZ', 'score': 10.15}, {'connected_gene': 'ALDH16A1', 'score': 10.13}, {'connected_gene': 'IRF3', 'score': 10.02}, {'connected_gene': 'AP2A1', 'score': 10.01}, {'connected_gene': 'SNRNP70', 'score': 9.78}, {'connected_gene': 'PTOV1-AS2', 'score': 8.61}]
chr19 GH19I049857 49857387 49864060 1.13 [{'connected_gene': 'PTOV1-AS2', 'score': 568.38}, {'connected_gene': 'AKT1S1', 'score': 19.63}, {'connected_gene': 'PNKP', 'score': 17.04}, {'connected_gene': 'PRR12', 'score': 11.15}, {'connected_gene': 'NUP62', 'score': 10.58}, {'connected_gene': 'PTOV1', 'score': 6.31}, {'connected_gene': 'FUZ', 'score': 5.66}, {'connected_gene': 'ATF5', 'score': 4.41}, {'connected_gene': 'PRRG2', 'score': 1.92}, {'connected_gene': 'MYH14', 'score': 1.39}, {'connected_gene': 'GC19P049856', 'score': 0.77}, {'connected_gene': 'PIR46791', 'score': 0.37}]
chr19 GH19I049849 49849329 49852981 2.09 [{'connected_gene': 'PTOV1-AS1', 'score': 550.77}, {'connected_gene': 'PIR35655', 'score': 550.77}, {'connected_gene': 'PTOV1', 'score': 550.77}, {'connected_gene': 'PIR43463', 'score': 550.77}, {'connected_gene': 'GC19M049851', 'score': 550.77}, {'connected_gene': 'PRR12', 'score': 44.68}, {'connected_gene': 'IRF3', 'score': 32.93}, {'connected_gene': 'SNRNP70', 'score': 30.03}, {'connected_gene': 'PIH1D1', 'score': 30.01}, {'connected_gene': 'SNORD35A', 'score': 28.19}, {'connected_gene': 'CPT1C', 'score': 26.12}, {'connected_gene': 'PTOV1-AS2', 'score': 25.57}, {'connected_gene': 'SNORD35B', 'score': 25.02}, {'connected_gene': 'ALDH16A1', 'score': 23.63}, {'connected_gene': 'RPS11', 'score': 21.84}, {'connected_gene': 'RPL13A', 'score': 20.85}, {'connected_gene': 'POLD1', 'score': 20.16}, {'connected_gene': 'MED25', 'score': 20.07}, {'connected_gene': 'ENSG00000268047', 'score': 16.35}, {'connected_gene': 'NUP62', 'score': 15.1}, {'connected_gene': 'BCL2L12', 'score': 13.93}, {'connected_gene': 'PNKP', 'score': 13.67}, {'connected_gene': 'ZNF473', 'score': 13.19}, {'connected_gene': 'FUZ', 'score': 12.22}, {'connected_gene': 'C19orf48', 'score': 12.09}, {'connected_gene': 'ADM5', 'score': 11.08}, {'connected_gene': 'PRMT1', 'score': 11.08}]

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