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
ENST00000567020 [[2525146, 2525171], [2546034, 2547114], [2548238, 2548397], [2549357, 2549421], [2549835, 2549931], [2550268, 2550491], [2550804, 2555735]] [[2546149, 2547114], [2548238, 2548397], [2549357, 2549421], [2549835, 2549931], [2550268, 2550491], [2550804, 2550959]]
ENST00000293970 [[2525153, 2525171], [2546034, 2547114], [2547710, 2547728], [2548238, 2548397], [2549357, 2549421], [2549835, 2549931], [2550268, 2550491], [2550804, 2553486]] [[2546149, 2547114], [2547710, 2547728], [2548238, 2548397], [2549357, 2549421], [2549835, 2549931], [2550268, 2550491], [2550804, 2550959]]
ENST00000566853 [[2533010, 2535517]] None
ENST00000562105 [[2533019, 2533087], [2546034, 2546310]] [[2546149, 2546310]]
ENST00000434757 [[2546095, 2547114], [2547710, 2547728], [2548238, 2548397], [2549357, 2549421], [2549835, 2549931], [2550268, 2550491], [2550804, 2551648]] [[2546149, 2547114], [2547710, 2547728], [2548238, 2548397], [2549357, 2549421], [2549835, 2549931], [2550268, 2550491], [2550804, 2550959]]
ENST00000564879 [[2548322, 2548397], [2549835, 2549931], [2550268, 2550491], [2550804, 2555734]] [[2548322, 2548397], [2549835, 2549931], [2550268, 2550491], [2550804, 2550959]]
ENST00000569874 [[2550899, 2551053], [2551710, 2552127]] [[2550899, 2550959]]
NM_020705 [[2525146, 2525171], [2546034, 2547114], [2548238, 2548397], [2549357, 2549421], [2549835, 2549931], [2550268, 2550491], [2550804, 2555734]] [[2546149, 2547114], [2548238, 2548397], [2549357, 2549421], [2549835, 2549931], [2550268, 2550491], [2550804, 2550959]]
NM_001199107 [[2525146, 2525171], [2546034, 2547114], [2547710, 2547728], [2548238, 2548397], [2549357, 2549421], [2549835, 2549931], [2550268, 2550491], [2550804, 2555734]] [[2546149, 2547114], [2547710, 2547728], [2548238, 2548397], [2549357, 2549421], [2549835, 2549931], [2550268, 2550491], [2550804, 2550959]]
Promoter
Chrom Start End Description
chr16 2525110 2525155 CAGE_peak_1_at_TBC1D24_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I002529 2529935 2533757 1.83 [{'connected_gene': 'CEMP1', 'score': 552.85}, {'connected_gene': 'GC16P002995', 'score': 550.77}, {'connected_gene': 'MIR3178', 'score': 550.77}, {'connected_gene': 'TBC1D24', 'score': 16.19}, {'connected_gene': 'LOC652276', 'score': 11.04}, {'connected_gene': 'ATP6V0C', 'score': 8.87}, {'connected_gene': 'PDPK1', 'score': 2.74}, {'connected_gene': 'AMDHD2', 'score': 1.89}, {'connected_gene': 'SRRM2', 'score': 1.52}, {'connected_gene': 'E4F1', 'score': 1.42}, {'connected_gene': 'RAB26', 'score': 1.27}]
chr16 GH16I002386 2386937 2387418 0.43 [{'connected_gene': 'ABCA17P', 'score': 12.2}, {'connected_gene': 'ABCA3', 'score': 12.2}, {'connected_gene': 'CCNF', 'score': 12.03}, {'connected_gene': 'TBC1D24', 'score': 7.88}, {'connected_gene': 'ERVK13-1', 'score': 5.34}, {'connected_gene': 'GC16P002400', 'score': 0.39}, {'connected_gene': 'GC16M002369', 'score': 0.37}]
chr16 GH16I002423 2423200 2423369 0.74 [{'connected_gene': 'ABCA17P', 'score': 12.0}, {'connected_gene': 'ABCA3', 'score': 12.0}, {'connected_gene': 'NTN3', 'score': 11.99}, {'connected_gene': 'TBC1D24', 'score': 10.97}, {'connected_gene': 'GC16P002427', 'score': 0.77}, {'connected_gene': 'GC16P002400', 'score': 0.34}]
chr16 GH16I002473 2473554 2477080 2.17 [{'connected_gene': 'TBC1D24', 'score': 559.26}, {'connected_gene': 'GC16P002476', 'score': 550.77}, {'connected_gene': 'ENSG00000260293', 'score': 550.77}, {'connected_gene': 'IFT140', 'score': 17.84}, {'connected_gene': 'ZNF75A', 'score': 17.51}, {'connected_gene': 'TIGD7', 'score': 15.24}, {'connected_gene': 'NME3', 'score': 14.57}, {'connected_gene': 'ZNF213-AS1', 'score': 14.36}, {'connected_gene': 'ZSCAN32', 'score': 13.19}, {'connected_gene': 'ZNF174', 'score': 12.94}, {'connected_gene': 'FLYWCH2', 'score': 12.83}, {'connected_gene': 'MTND1P8', 'score': 12.65}, {'connected_gene': 'MTCO1P28', 'score': 12.21}, {'connected_gene': 'MTRNR2L4', 'score': 11.31}, {'connected_gene': 'ENSG00000260646', 'score': 11.17}, {'connected_gene': 'CRAMP1', 'score': 10.4}, {'connected_gene': 'ERVK13-1', 'score': 10.39}, {'connected_gene': 'SNHG19', 'score': 9.72}, {'connected_gene': 'TELO2', 'score': 9.68}, {'connected_gene': 'NTN3', 'score': 0.77}]
chr16 GH16I002500 2500571 2503749 1.34 [{'connected_gene': 'TBC1D24', 'score': 24.81}, {'connected_gene': 'CCNF', 'score': 11.62}, {'connected_gene': 'ENSG00000261613', 'score': 5.61}, {'connected_gene': 'ERVK13-1', 'score': 4.98}, {'connected_gene': 'GC16M002495', 'score': 0.77}, {'connected_gene': 'ENSG00000260272', 'score': 0.44}, {'connected_gene': 'ATP6V0C', 'score': 0.39}]
chr16 GH16I002589 2589796 2590732 0.38 [{'connected_gene': 'TBC1D24', 'score': 15.08}, {'connected_gene': 'PRSS27', 'score': 10.26}, {'connected_gene': 'ENSG00000279162', 'score': 0.77}, {'connected_gene': 'ENSG00000280402', 'score': 0.39}, {'connected_gene': 'PDPK1', 'score': 0.23}]
chr16 GH16I002587 2587500 2588893 0.2 [{'connected_gene': 'TBC1D24', 'score': 15.0}, {'connected_gene': 'PRSS27', 'score': 10.26}, {'connected_gene': 'ENSG00000279162', 'score': 0.77}, {'connected_gene': 'ENSG00000280402', 'score': 0.44}, {'connected_gene': 'PDPK1', 'score': 0.23}]
chr16 GH16I002539 2539459 2541669 1.04 [{'connected_gene': 'TBC1D24', 'score': 17.07}, {'connected_gene': 'ATP6V0C', 'score': 8.42}, {'connected_gene': 'PDPK1', 'score': 0.77}, {'connected_gene': 'ENSG00000261288', 'score': 0.39}]
chr16 GH16I002506 2506583 2511005 1.41 [{'connected_gene': 'TBC1D24', 'score': 20.99}, {'connected_gene': 'PDPK1', 'score': 14.63}, {'connected_gene': 'CEMP1', 'score': 14.4}, {'connected_gene': 'ABCA17P', 'score': 11.63}, {'connected_gene': 'ABCA3', 'score': 11.63}, {'connected_gene': 'CCNF', 'score': 11.61}, {'connected_gene': 'SRRM2', 'score': 1.64}, {'connected_gene': 'ATP6V0C', 'score': 0.77}, {'connected_gene': 'ENSG00000260272', 'score': 0.39}, {'connected_gene': 'GC16M002495', 'score': 0.39}]
chr16 GH16I002485 2485930 2488717 1.4 [{'connected_gene': 'TBC1D24', 'score': 20.19}, {'connected_gene': 'AMDHD2', 'score': 8.84}, {'connected_gene': 'PDPK1', 'score': 1.62}, {'connected_gene': 'GC16P002483', 'score': 0.77}, {'connected_gene': 'ENSG00000260272', 'score': 0.44}]
chr16 GH16I002534 2534995 2539001 2.17 [{'connected_gene': 'PDPK1', 'score': 561.98}, {'connected_gene': 'ZNF213-AS1', 'score': 21.77}, {'connected_gene': 'CRAMP1', 'score': 21.03}, {'connected_gene': 'ZNF75A', 'score': 19.94}, {'connected_gene': 'TBL3', 'score': 17.65}, {'connected_gene': 'ZNF597', 'score': 15.77}, {'connected_gene': 'LOC106660606', 'score': 14.88}, {'connected_gene': 'RNPS1', 'score': 14.13}, {'connected_gene': 'TSC2', 'score': 12.97}, {'connected_gene': 'AMDHD2', 'score': 12.95}, {'connected_gene': 'ZNF200', 'score': 12.7}, {'connected_gene': 'PDPK2P', 'score': 12.12}, {'connected_gene': 'TBC1D24', 'score': 11.78}, {'connected_gene': 'ENSG00000261207', 'score': 11.42}, {'connected_gene': 'LOC652276', 'score': 10.73}, {'connected_gene': 'EME2', 'score': 10.32}, {'connected_gene': 'E4F1', 'score': 10.08}, {'connected_gene': 'ZNF598', 'score': 9.68}, {'connected_gene': 'ATP6V0C', 'score': 7.68}, {'connected_gene': 'MIR3178', 'score': 0.77}]
chr16 GH16I002511 2511100 2521805 2.7 [{'connected_gene': 'AMDHD2', 'score': 550.77}, {'connected_gene': 'ENSG00000279520', 'score': 550.77}, {'connected_gene': 'ATP6V0C', 'score': 550.77}, {'connected_gene': 'ZNF75A', 'score': 35.06}, {'connected_gene': 'TBC1D24', 'score': 26.95}, {'connected_gene': 'IFT140', 'score': 25.94}, {'connected_gene': 'ZNF213-AS1', 'score': 25.5}, {'connected_gene': 'CRAMP1', 'score': 23.19}, {'connected_gene': 'ERVK13-1', 'score': 21.32}, {'connected_gene': 'SNHG19', 'score': 18.29}, {'connected_gene': 'TIGD7', 'score': 15.24}, {'connected_gene': 'NME3', 'score': 14.57}, {'connected_gene': 'CLUAP1', 'score': 14.04}, {'connected_gene': 'ENSG00000260954', 'score': 13.86}, {'connected_gene': 'ZSCAN32', 'score': 13.19}, {'connected_gene': 'ZNF263', 'score': 13.03}, {'connected_gene': 'NUBP2', 'score': 12.97}, {'connected_gene': 'ZNF174', 'score': 12.94}, {'connected_gene': 'FLYWCH2', 'score': 12.83}, {'connected_gene': 'SRRM2', 'score': 12.78}, {'connected_gene': 'MTND1P8', 'score': 12.65}, {'connected_gene': 'MTCO1P28', 'score': 12.21}, {'connected_gene': 'LOC106660606', 'score': 12.21}, {'connected_gene': 'TSC2', 'score': 11.88}, {'connected_gene': 'ENSG00000255513', 'score': 11.66}, {'connected_gene': 'MTRNR2L4', 'score': 11.31}, {'connected_gene': 'E4F1', 'score': 11.1}, {'connected_gene': 'LOC105371055', 'score': 10.73}, {'connected_gene': 'SNORD60', 'score': 10.66}, {'connected_gene': 'SNORA64', 'score': 9.98}, {'connected_gene': 'ZNF598', 'score': 9.9}, {'connected_gene': 'ZNF205', 'score': 9.81}, {'connected_gene': 'PDPK1', 'score': 2.86}, {'connected_gene': 'CASKIN1', 'score': 2.51}, {'connected_gene': 'PKD1', 'score': 1.67}, {'connected_gene': 'RAB26', 'score': 1.24}, {'connected_gene': 'PIR61539', 'score': 0.77}, {'connected_gene': 'PIR38127', 'score': 0.77}, {'connected_gene': 'PIR51853', 'score': 0.77}, {'connected_gene': 'PIR38427', 'score': 0.77}, {'connected_gene': 'GC16P002984', 'score': 0.77}, {'connected_gene': 'GC16P002519', 'score': 0.77}, {'connected_gene': 'PIR35595', 'score': 0.77}, {'connected_gene': 'PIR33103', 'score': 0.77}, {'connected_gene': 'PIR52118', 'score': 0.77}, {'connected_gene': 'ENSG00000259784', 'score': 0.77}, {'connected_gene': 'ENSG00000260272', 'score': 0.34}]
chr16 GH16I002467 2467006 2472383 2.47 [{'connected_gene': 'NTN3', 'score': 559.11}, {'connected_gene': 'LOC729652', 'score': 550.77}, {'connected_gene': 'ZNF75A', 'score': 19.36}, {'connected_gene': 'ZNF213-AS1', 'score': 12.98}, {'connected_gene': 'ERVK13-1', 'score': 12.73}, {'connected_gene': 'LOC106660606', 'score': 12.23}, {'connected_gene': 'NME3', 'score': 12.2}, {'connected_gene': 'MTCO1P28', 'score': 11.35}, {'connected_gene': 'ENSG00000260646', 'score': 11.12}, {'connected_gene': 'SNORD60', 'score': 10.37}, {'connected_gene': 'SNHG19', 'score': 10.16}, {'connected_gene': 'ZNF205', 'score': 10.01}, {'connected_gene': 'TSC2', 'score': 10.0}, {'connected_gene': 'RAB26', 'score': 7.89}, {'connected_gene': 'TBC1D24', 'score': 4.99}, {'connected_gene': 'TEDC2', 'score': 3.86}, {'connected_gene': 'E4F1', 'score': 2.38}, {'connected_gene': 'CCNF', 'score': 1.46}, {'connected_gene': 'SRRM2', 'score': 1.38}]
chr16 GH16I002439 2439996 2440806 0.46 [{'connected_gene': 'NTN3', 'score': 12.32}, {'connected_gene': 'TBC1D24', 'score': 12.32}, {'connected_gene': 'ABCA3', 'score': 11.62}, {'connected_gene': 'ABCA17P', 'score': 11.62}, {'connected_gene': 'RNPS1', 'score': 11.42}, {'connected_gene': 'ECI1', 'score': 11.41}, {'connected_gene': 'MIR940', 'score': 10.91}, {'connected_gene': 'PKD1', 'score': 9.85}, {'connected_gene': 'GC16P002435', 'score': 0.77}, {'connected_gene': 'MIR6767', 'score': 0.77}, {'connected_gene': 'CCNF', 'score': 0.39}]
chr16 GH16I002793 2793401 2795199 1.31 [{'connected_gene': 'PRSS41', 'score': 7.01}, {'connected_gene': 'TBC1D24', 'score': 4.85}, {'connected_gene': 'PDPK1', 'score': 4.42}, {'connected_gene': 'MEFV', 'score': 3.56}, {'connected_gene': 'SRRM2', 'score': 2.31}, {'connected_gene': 'ATP6V0C', 'score': 1.15}, {'connected_gene': 'SNORA3C', 'score': 0.77}, {'connected_gene': 'GC16M002798', 'score': 0.77}, {'connected_gene': 'GC16M002791', 'score': 0.44}, {'connected_gene': 'PRSS33', 'score': 0.44}]
chr16 GH16I002019 2019393 2019452 0.82 [{'connected_gene': 'NPW', 'score': 550.44}, {'connected_gene': 'TBC1D24', 'score': 6.05}, {'connected_gene': 'SLC9A3R2', 'score': 0.44}, {'connected_gene': 'RN7SL219P', 'score': 0.44}]
chr16 GH16I002602 2602780 2604601 2.23 [{'connected_gene': 'PIR62164', 'score': 550.77}, {'connected_gene': 'LOC652276', 'score': 550.77}, {'connected_gene': 'TBL3', 'score': 25.87}, {'connected_gene': 'ZNF597', 'score': 24.68}, {'connected_gene': 'AMDHD2', 'score': 23.03}, {'connected_gene': 'SRRM2', 'score': 19.8}, {'connected_gene': 'TIGD7', 'score': 18.51}, {'connected_gene': 'ZNF263', 'score': 17.66}, {'connected_gene': 'ZNF598', 'score': 14.88}, {'connected_gene': 'CRAMP1', 'score': 13.9}, {'connected_gene': 'NME3', 'score': 13.6}, {'connected_gene': 'E4F1', 'score': 13.24}, {'connected_gene': 'CLUAP1', 'score': 13.18}, {'connected_gene': 'TRAF7', 'score': 13.07}, {'connected_gene': 'TBC1D24', 'score': 13.05}, {'connected_gene': 'ENSG00000261938', 'score': 12.8}, {'connected_gene': 'ZNF213-AS1', 'score': 12.48}, {'connected_gene': 'SNORA64', 'score': 12.48}, {'connected_gene': 'NUBP2', 'score': 12.45}, {'connected_gene': 'ENSG00000261207', 'score': 12.02}, {'connected_gene': 'ENSG00000255513', 'score': 11.99}, {'connected_gene': 'ZNF75A', 'score': 11.98}, {'connected_gene': 'THOC6', 'score': 11.51}, {'connected_gene': 'TSC2', 'score': 11.29}, {'connected_gene': 'SNORD60', 'score': 11.11}, {'connected_gene': 'ZNF174', 'score': 11.1}, {'connected_gene': 'MTCO1P28', 'score': 10.81}, {'connected_gene': 'ZNF200', 'score': 10.71}, {'connected_gene': 'IFT140', 'score': 10.51}, {'connected_gene': 'FLYWCH1', 'score': 10.41}, {'connected_gene': 'MTND1P8', 'score': 10.08}, {'connected_gene': 'SPSB3', 'score': 10.0}, {'connected_gene': 'ZSCAN32', 'score': 9.89}, {'connected_gene': 'GC16M002615', 'score': 0.44}, {'connected_gene': 'PDPK1', 'score': 0.2}]
chr16 GH16I002364 2364053 2367294 0.78 [{'connected_gene': 'GC16M002363', 'score': 550.77}, {'connected_gene': 'ABCA17P', 'score': 25.37}, {'connected_gene': 'ABCA3', 'score': 12.47}, {'connected_gene': 'CCNF', 'score': 11.78}, {'connected_gene': 'NTN3', 'score': 11.54}, {'connected_gene': 'TBC1D24', 'score': 11.54}, {'connected_gene': 'SRRM2-AS1', 'score': 9.02}, {'connected_gene': 'GC16M002369', 'score': 0.77}]
chr16 GH16I002591 2591843 2592593 0.2 [{'connected_gene': 'ENSG00000279162', 'score': 550.77}, {'connected_gene': 'TBC1D24', 'score': 13.99}, {'connected_gene': 'LOC652276', 'score': 11.65}, {'connected_gene': 'ENSG00000280402', 'score': 0.39}, {'connected_gene': 'PDPK1', 'score': 0.23}]
chr16 GH16I002498 2498925 2499346 0.58 [{'connected_gene': 'GC16M002495', 'score': 550.77}, {'connected_gene': 'TBC1D24', 'score': 20.14}, {'connected_gene': 'ENSG00000260272', 'score': 0.77}, {'connected_gene': 'ATP6V0C', 'score': 0.39}]
chr16 GH16I002573 2573974 2577762 0.2 [{'connected_gene': 'PIR56149', 'score': 550.77}, {'connected_gene': 'GC16M002571', 'score': 550.77}, {'connected_gene': 'ENSG00000279568', 'score': 550.77}, {'connected_gene': 'TBC1D24', 'score': 6.56}, {'connected_gene': 'PDPK1', 'score': 0.28}]
chr16 GH16I002611 2611075 2613674 0.31 [{'connected_gene': 'GC16M002615', 'score': 550.77}, {'connected_gene': 'ENSG00000261613', 'score': 14.46}, {'connected_gene': 'TBC1D24', 'score': 8.1}, {'connected_gene': 'ERVK13-1', 'score': 7.24}, {'connected_gene': 'LOC652276', 'score': 0.44}, {'connected_gene': 'ENSG00000279057', 'score': 0.44}]
chr16 GH16I002481 2481387 2485528 1.33 [{'connected_gene': 'GC16P002483', 'score': 550.77}, {'connected_gene': 'TBC1D24', 'score': 20.24}, {'connected_gene': 'ENSG00000260293', 'score': 0.44}, {'connected_gene': 'ENSG00000260272', 'score': 0.39}]
chr16 GH16I002493 2493548 2494963 0.38 [{'connected_gene': 'ENSG00000260272', 'score': 550.77}, {'connected_gene': 'TBC1D24', 'score': 8.92}, {'connected_gene': 'ENSG00000261613', 'score': 7.74}, {'connected_gene': 'GC16P002483', 'score': 0.39}]
chr16 GH16I002482 2481120 2481269 0.4 [{'connected_gene': 'GC16P002483', 'score': 550.77}, {'connected_gene': 'ENSG00000260293', 'score': 0.77}, {'connected_gene': 'GC16P002476', 'score': 0.77}, {'connected_gene': 'TBC1D24', 'score': 0.44}]
chr16 GH16I002489 2489582 2491591 0.31 [{'connected_gene': 'GC16P002483', 'score': 0.44}, {'connected_gene': 'ENSG00000260272', 'score': 0.44}, {'connected_gene': 'TBC1D24', 'score': 0.37}]
chr16 GH16I002477 2477556 2477903 0.38 [{'connected_gene': 'ENSG00000260293', 'score': 550.77}, {'connected_gene': 'GC16P002476', 'score': 550.77}, {'connected_gene': 'TBC1D24', 'score': 20.57}, {'connected_gene': 'GC16P002483', 'score': 0.44}]
chr16 GH16I002496 2496953 2497965 1.01 [{'connected_gene': 'GC16M002495', 'score': 550.77}, {'connected_gene': 'ENSG00000260272', 'score': 550.77}, {'connected_gene': 'ATP6V0C', 'score': 0.37}, {'connected_gene': 'TBC1D24', 'score': 0.34}]
chr16 GH16I002669 2669944 2670473 1.11 [{'connected_gene': 'GC16P003029', 'score': 550.77}, {'connected_gene': 'ERVK13-1', 'score': 17.76}, {'connected_gene': 'PRSS27', 'score': 12.01}, {'connected_gene': 'TBC1D24', 'score': 11.59}, {'connected_gene': 'SRRM2-AS1', 'score': 10.9}, {'connected_gene': 'ABCA17P', 'score': 9.5}, {'connected_gene': 'ABCA3', 'score': 9.5}]

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