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
ENST00000609981 [[2357418, 2357476], [2361776, 2362068], [2409914, 2410061], [2411172, 2411243]] [[2361953, 2362068], [2409914, 2410061], [2411172, 2411243]]
ENST00000449969 [[2398897, 2399101], [2409914, 2410061], [2411172, 2411417], [2411622, 2411751], [2415886, 2416057], [2418345, 2418439], [2418611, 2418815], [2419036, 2419157], [2420645, 2420817], [2421198, 2421306], [2422630, 2422774], [2426294, 2426387], [2426926, 2427009], [2428045, 2428143], [2428266, 2428449], [2428940, 2429048], [2429961, 2430086], [2430182, 2430267], [2430522, 2430669], [2431079, 2431159], [2433550, 2434349], [2435055, 2436965]] [[2399058, 2399101], [2409914, 2410061], [2411172, 2411417], [2411622, 2411751], [2415886, 2416057], [2418345, 2418439], [2418611, 2418815], [2419036, 2419157], [2420645, 2420817], [2421198, 2421306], [2422630, 2422774], [2426294, 2426387], [2426926, 2427009], [2428045, 2428143], [2428266, 2428449], [2428940, 2429048], [2429961, 2430086], [2430182, 2430267], [2430522, 2430669], [2431079, 2431159], [2433550, 2434349], [2435055, 2435066]]
ENST00000288766 [[2407753, 2408151], [2409914, 2410061], [2411172, 2411249], [2430182, 2430267], [2430522, 2430669], [2431079, 2431159], [2433550, 2434525]] [[2409925, 2410061], [2411172, 2411249], [2430182, 2430267], [2430522, 2430669], [2431079, 2431159], [2433550, 2434525]]
ENST00000378486 [[2407753, 2408151], [2409914, 2410061], [2411172, 2411416], [2411621, 2411751], [2415886, 2416057], [2418345, 2418439], [2418611, 2418815], [2419036, 2419157], [2420645, 2420817], [2421198, 2421306], [2422630, 2422774], [2426294, 2426387], [2426926, 2427009], [2428045, 2428143], [2428266, 2428449], [2428940, 2429048], [2429961, 2430086], [2430182, 2430267], [2430522, 2430669], [2431079, 2431159], [2433550, 2433848], [2435360, 2436964]] [[2408027, 2408151], [2409914, 2410061], [2411172, 2411416], [2411621, 2411751], [2415886, 2416057], [2418345, 2418439], [2418611, 2418815], [2419036, 2419157], [2420645, 2420817], [2421198, 2421306], [2422630, 2422774], [2426294, 2426387], [2426926, 2427009], [2428045, 2428143], [2428266, 2428449], [2428940, 2429048], [2429961, 2430086], [2430182, 2430267], [2430522, 2430669], [2431079, 2431159], [2433550, 2433848], [2435360, 2436652]]
ENST00000378488 [[2407753, 2408151], [2409914, 2410061], [2411172, 2411417], [2411622, 2411751], [2415886, 2416057], [2418345, 2418439], [2418611, 2418815], [2419036, 2419157], [2420645, 2420817], [2421198, 2421306], [2422630, 2422774], [2426294, 2426387], [2426926, 2427009], [2428045, 2428143], [2428266, 2428449], [2429961, 2430086], [2430182, 2430267], [2430522, 2430669], [2431079, 2431159], [2433550, 2433848], [2435360, 2436964]] [[2408027, 2408151], [2409914, 2410061], [2411172, 2411417], [2411622, 2411751], [2415886, 2416057], [2418345, 2418439], [2418611, 2418815], [2419036, 2419157], [2420645, 2420817], [2421198, 2421306], [2422630, 2422774], [2426294, 2426387], [2426926, 2427009], [2428045, 2428143], [2428266, 2428449], [2429961, 2430086], [2430182, 2430267], [2430522, 2430669], [2431079, 2431159], [2433550, 2433848], [2435360, 2436652]]
ENST00000419816 [[2407753, 2408151], [2409914, 2410061], [2411172, 2411417], [2411622, 2411751], [2415886, 2416057], [2418345, 2418439], [2418611, 2418815], [2419036, 2419157], [2420645, 2420817], [2421198, 2421306], [2422630, 2422774], [2426294, 2426387], [2426926, 2427009], [2428045, 2428143], [2428266, 2428449], [2428940, 2429048], [2429961, 2430086], [2430182, 2430267], [2430522, 2430669], [2431079, 2431159], [2433550, 2433848], [2435360, 2436964]] [[2408027, 2408151], [2409914, 2410061], [2411172, 2411417], [2411622, 2411751], [2415886, 2416057], [2418345, 2418439], [2418611, 2418815], [2419036, 2419157], [2420645, 2420817], [2421198, 2421306], [2422630, 2422774], [2426294, 2426387], [2426926, 2427009], [2428045, 2428143], [2428266, 2428449], [2428940, 2429048], [2429961, 2430086], [2430182, 2430267], [2430522, 2430669], [2431079, 2431159], [2433550, 2433848], [2435360, 2436652]]
ENST00000343889 [[2410528, 2411417], [2411622, 2411751], [2415886, 2416057], [2418345, 2418439], [2418611, 2418815], [2419036, 2419157], [2420645, 2420817], [2421198, 2421306], [2422630, 2422774], [2426294, 2426387], [2426926, 2427009], [2428045, 2428143], [2428266, 2428449], [2428940, 2429048], [2429961, 2430086], [2430182, 2430267], [2430522, 2430669], [2431079, 2431159], [2433550, 2436969]] None
ENST00000278878 [[2411326, 2411417], [2411622, 2411751], [2415886, 2416057], [2418345, 2418439], [2418611, 2418815], [2419036, 2419157], [2420645, 2420817], [2421198, 2421306], [2422630, 2422774], [2426294, 2426387], [2426926, 2427009], [2428045, 2428143], [2428266, 2428449], [2429961, 2430086], [2430182, 2430267], [2430522, 2430669], [2431079, 2431159], [2433550, 2433848], [2435360, 2436715]] [[2411326, 2411417], [2411622, 2411751], [2415886, 2416057], [2418345, 2418439], [2418611, 2418815], [2419036, 2419157], [2420645, 2420817], [2421198, 2421306], [2422630, 2422774], [2426294, 2426387], [2426926, 2427009], [2428045, 2428143], [2428266, 2428449], [2429961, 2430086], [2430182, 2430267], [2430522, 2430669], [2431079, 2431159], [2433550, 2433848], [2435360, 2436652]]
ENST00000473964 [[2429220, 2430086], [2430182, 2430267], [2430522, 2430669], [2431079, 2436967]] None
ENST00000462379 [[2430085, 2430267], [2430522, 2430669], [2431079, 2431159], [2433550, 2433848], [2435055, 2435082], [2435360, 2436967]] None
NM_001303012 [[2398897, 2399101], [2409914, 2410061], [2411172, 2411416], [2411621, 2411751], [2415886, 2416057], [2418345, 2418439], [2418611, 2418815], [2419036, 2419157], [2420645, 2420817], [2421198, 2421306], [2422630, 2422774], [2426294, 2426387], [2426926, 2427009], [2428045, 2428143], [2428266, 2428449], [2428940, 2429048], [2429961, 2430086], [2430182, 2430267], [2430522, 2430669], [2431079, 2431159], [2433550, 2434349], [2435055, 2436969]] [[2399058, 2399101], [2409914, 2410061], [2411172, 2411416], [2411621, 2411751], [2415886, 2416057], [2418345, 2418439], [2418611, 2418815], [2419036, 2419157], [2420645, 2420817], [2421198, 2421306], [2422630, 2422774], [2426294, 2426387], [2426926, 2427009], [2428045, 2428143], [2428266, 2428449], [2428940, 2429048], [2429961, 2430086], [2430182, 2430267], [2430522, 2430669], [2431079, 2431159], [2433550, 2434349], [2435055, 2435066]]
NM_014638 [[2407753, 2408151], [2409914, 2410061], [2411172, 2411416], [2411621, 2411751], [2415886, 2416057], [2418345, 2418439], [2418611, 2418815], [2419036, 2419157], [2420645, 2420817], [2421198, 2421306], [2422630, 2422774], [2426294, 2426387], [2426926, 2427009], [2428045, 2428143], [2428266, 2428449], [2428940, 2429048], [2429961, 2430086], [2430182, 2430267], [2430522, 2430669], [2431079, 2431159], [2433550, 2433848], [2435360, 2436969]] [[2408027, 2408151], [2409914, 2410061], [2411172, 2411416], [2411621, 2411751], [2415886, 2416057], [2418345, 2418439], [2418611, 2418815], [2419036, 2419157], [2420645, 2420817], [2421198, 2421306], [2422630, 2422774], [2426294, 2426387], [2426926, 2427009], [2428045, 2428143], [2428266, 2428449], [2428940, 2429048], [2429961, 2430086], [2430182, 2430267], [2430522, 2430669], [2431079, 2431159], [2433550, 2433848], [2435360, 2436652]]
NM_001303013 [[2407753, 2409143], [2409914, 2410061], [2411172, 2411416], [2411621, 2411751], [2415886, 2416057], [2418345, 2418439], [2418611, 2418815], [2419036, 2419157], [2420645, 2420817], [2421198, 2421306], [2422630, 2422774], [2426294, 2426387], [2426926, 2427009], [2428045, 2428143], [2428266, 2428449], [2428940, 2429048], [2429961, 2430086], [2430182, 2430267], [2430522, 2430669], [2431079, 2431159], [2433550, 2433848], [2435383, 2436969]] [[2408959, 2409143], [2409914, 2410061], [2411172, 2411416], [2411621, 2411751], [2415886, 2416057], [2418345, 2418439], [2418611, 2418815], [2419036, 2419157], [2420645, 2420817], [2421198, 2421306], [2422630, 2422774], [2426294, 2426387], [2426926, 2427009], [2428045, 2428143], [2428266, 2428449], [2428940, 2429048], [2429961, 2430086], [2430182, 2430267], [2430522, 2430669], [2431079, 2431159], [2433550, 2433848], [2435383, 2435424]]
Promoter
Chrom Start End Description
chr1 2398876 2398928 CAGE_peak_1_at_PLCH2_5end
chr1 2407723 2407740 CAGE_peak_3_at_PLCH2_5end
chr1 2407754 2407773 CAGE_peak_2_at_PLCH2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I002411 2411555 2417307 2.44 [{'connected_gene': 'PLCH2', 'score': 569.09}, {'connected_gene': 'PEX10', 'score': 555.54}, {'connected_gene': 'MORN1', 'score': 18.61}, {'connected_gene': 'LOC100129381', 'score': 13.27}, {'connected_gene': 'LOC100129534', 'score': 12.56}, {'connected_gene': 'SLC35E2', 'score': 11.58}, {'connected_gene': 'FAAP20', 'score': 11.22}, {'connected_gene': 'MIB2', 'score': 11.19}, {'connected_gene': 'ATAD3B', 'score': 10.65}, {'connected_gene': 'SLC35E2B', 'score': 9.87}, {'connected_gene': 'LOC100288379', 'score': 4.57}, {'connected_gene': 'ATAD3C', 'score': 4.49}]
chr1 GH01I002475 2475050 2475442 0.79 [{'connected_gene': 'PLCH2', 'score': 1.74}, {'connected_gene': 'GC01M002449', 'score': 0.44}, {'connected_gene': 'GC01P002489', 'score': 0.39}]
chr1 GH01I002477 2477593 2478551 0.69 [{'connected_gene': 'PLCH2', 'score': 6.1}, {'connected_gene': 'GC01M002449', 'score': 0.44}, {'connected_gene': 'GC01P002489', 'score': 0.39}]
chr1 GH01I002430 2430101 2431153 0.82 [{'connected_gene': 'PLCH2', 'score': 7.04}, {'connected_gene': 'ENSG00000229393', 'score': 5.49}, {'connected_gene': 'GC01M002425', 'score': 0.44}, {'connected_gene': 'GC01M002449', 'score': 0.28}]
chr1 GH01I002476 2476272 2476331 0.88 [{'connected_gene': 'PLCH2', 'score': 550.21}, {'connected_gene': 'GC01M002449', 'score': 0.44}, {'connected_gene': 'GC01P002489', 'score': 0.39}]
chr1 GH01I002443 2443841 2450631 0.7 [{'connected_gene': 'MORN1', 'score': 15.13}, {'connected_gene': 'FAAP20', 'score': 13.94}, {'connected_gene': 'ATAD3B', 'score': 12.84}, {'connected_gene': 'LOC100129534', 'score': 11.93}, {'connected_gene': 'ENSG00000234396', 'score': 11.81}, {'connected_gene': 'SLC35E2', 'score': 10.83}, {'connected_gene': 'MIB2', 'score': 10.29}, {'connected_gene': 'SLC35E2B', 'score': 9.91}, {'connected_gene': 'LOC100129381', 'score': 9.85}, {'connected_gene': 'GC01M002449', 'score': 0.34}, {'connected_gene': 'GC01M002425', 'score': 0.34}, {'connected_gene': 'PLCH2', 'score': 0.29}]
chr1 GH01I002436 2436320 2443730 0.65 [{'connected_gene': 'MORN1', 'score': 15.15}, {'connected_gene': 'FAAP20', 'score': 13.94}, {'connected_gene': 'ATAD3B', 'score': 12.84}, {'connected_gene': 'LOC100129534', 'score': 11.94}, {'connected_gene': 'ENSG00000234396', 'score': 11.81}, {'connected_gene': 'LOC100288379', 'score': 11.47}, {'connected_gene': 'CDK11A', 'score': 11.07}, {'connected_gene': 'SLC35E2', 'score': 10.83}, {'connected_gene': 'RER1', 'score': 10.3}, {'connected_gene': 'MIB2', 'score': 10.29}, {'connected_gene': 'SLC35E2B', 'score': 9.9}, {'connected_gene': 'LOC100129381', 'score': 9.85}, {'connected_gene': 'GC01M002425', 'score': 0.37}, {'connected_gene': 'PLCH2', 'score': 0.34}, {'connected_gene': 'GC01M002449', 'score': 0.31}]
chr1 GH01I002341 2341809 2346108 0.54 [{'connected_gene': 'MORN1', 'score': 22.84}, {'connected_gene': 'LOC100129534', 'score': 13.29}, {'connected_gene': 'RER1', 'score': 11.63}, {'connected_gene': 'ENSG00000272420', 'score': 7.9}, {'connected_gene': 'PLCH2', 'score': 5.55}, {'connected_gene': 'PIR43066', 'score': 0.44}, {'connected_gene': 'GC01M002367', 'score': 0.44}, {'connected_gene': 'ENSG00000272161', 'score': 0.37}]
chr1 GH01I002456 2456814 2463154 0.67 [{'connected_gene': 'SLC35E2B', 'score': 4.23}, {'connected_gene': 'GC01M002449', 'score': 0.44}, {'connected_gene': 'GC01M002425', 'score': 0.28}, {'connected_gene': 'PLCH2', 'score': 0.26}]
chr1 GH01I002464 2464701 2470143 1.51 [{'connected_gene': 'GC01M002449', 'score': 550.77}, {'connected_gene': 'PLCH2', 'score': 550.23}, {'connected_gene': 'SKI', 'score': 4.64}, {'connected_gene': 'GC01M002425', 'score': 0.26}]
chr1 GH01I002319 2319899 2323706 1.24 [{'connected_gene': 'ENSG00000272106', 'score': 5.35}, {'connected_gene': 'PLCH2', 'score': 5.34}, {'connected_gene': 'LOC100129534', 'score': 5.32}, {'connected_gene': 'HES5', 'score': 1.35}, {'connected_gene': 'GC01M002322', 'score': 0.77}, {'connected_gene': 'PIR31073', 'score': 0.39}, {'connected_gene': 'MORN1', 'score': 0.2}]
chr1 GH01I002482 2482062 2482091 0.38 [{'connected_gene': 'GC01P002489', 'score': 0.44}, {'connected_gene': 'GC01M002449', 'score': 0.39}, {'connected_gene': 'PLCH2', 'score': 0.2}]
chr1 GH01I002474 2474620 2474654 0.51 [{'connected_gene': 'GC01M002449', 'score': 0.44}, {'connected_gene': 'GC01P002489', 'score': 0.39}, {'connected_gene': 'PLCH2', 'score': 0.22}]
chr1 GH01I002450 2450838 2453840 1.02 [{'connected_gene': 'GC01M002449', 'score': 0.37}, {'connected_gene': 'GC01M002425', 'score': 0.31}, {'connected_gene': 'PLCH2', 'score': 0.28}]
chr1 GH01I002471 2471416 2472441 0.43 [{'connected_gene': 'GC01M002449', 'score': 0.77}, {'connected_gene': 'GC01P002489', 'score': 0.37}, {'connected_gene': 'PLCH2', 'score': 0.22}]
chr1 GH01I002427 2427972 2429483 0.63 [{'connected_gene': 'GC01M002425', 'score': 0.77}, {'connected_gene': 'PLCH2', 'score': 0.39}, {'connected_gene': 'GC01M002449', 'score': 0.28}]
chr1 GH01I002493 2493902 2494729 0.87 [{'connected_gene': 'ENSG00000224387', 'score': 565.07}, {'connected_gene': 'ENSG00000229393', 'score': 550.77}, {'connected_gene': 'ENSG00000272449', 'score': 5.31}, {'connected_gene': 'GC01P002489', 'score': 0.44}, {'connected_gene': 'PLCH2', 'score': 0.18}]
chr1 GH01I002499 2499527 2500595 0.56 [{'connected_gene': 'ENSG00000224387', 'score': 14.98}, {'connected_gene': 'PANK4', 'score': 12.62}, {'connected_gene': 'MORN1', 'score': 11.18}, {'connected_gene': 'GC01P002503', 'score': 0.77}, {'connected_gene': 'ENSG00000229393', 'score': 0.44}, {'connected_gene': 'PLCH2', 'score': 0.18}]
chr1 GH01I002495 2495817 2496850 0.69 [{'connected_gene': 'ENSG00000229393', 'score': 550.77}, {'connected_gene': 'ENSG00000224387', 'score': 15.36}, {'connected_gene': 'PANK4', 'score': 12.6}, {'connected_gene': 'MMEL1', 'score': 11.32}, {'connected_gene': 'MORN1', 'score': 11.18}, {'connected_gene': 'GC01P002503', 'score': 0.44}, {'connected_gene': 'PLCH2', 'score': 0.18}]

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