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
ENST00000536980 [[3292027, 3293694], [3293859, 3293892], [3294135, 3294286], [3294472, 3294588], [3296524, 3296547], [3297015, 3297246], [3298908, 3299004], [3299430, 3299780], [3306310, 3306627]] [[3294170, 3294286], [3294472, 3294588], [3296524, 3296547], [3297015, 3297246], [3298908, 3299004], [3299430, 3299780], [3306310, 3306587]]
ENST00000537682 [[3292027, 3293694], [3293859, 3293892], [3294135, 3294286], [3294472, 3294588], [3296524, 3296547], [3297015, 3297246], [3298908, 3299004], [3299430, 3299780], [3304157, 3304790], [3306310, 3306627]] [[3294170, 3294286], [3294472, 3294588], [3296524, 3296547], [3297015, 3297246], [3298908, 3299004], [3299430, 3299780], [3304157, 3304790], [3306310, 3306587]]
ENST00000219596 [[3292027, 3293694], [3293859, 3293892], [3294253, 3294286], [3294472, 3294588], [3296524, 3296547], [3297015, 3297246], [3298908, 3299004], [3299430, 3299780], [3304157, 3304790], [3306310, 3306627]] [[3293140, 3293694], [3293859, 3293892], [3294253, 3294286], [3294472, 3294588], [3296524, 3296547], [3297015, 3297246], [3298908, 3299004], [3299430, 3299780], [3304157, 3304790], [3306310, 3306587]]
ENST00000538326 [[3292027, 3293694], [3293859, 3293892], [3294253, 3294286], [3294472, 3294588], [3296524, 3296547], [3297015, 3297246], [3298464, 3298562], [3298908, 3299004], [3299430, 3299780], [3304157, 3304790], [3306310, 3306627]] [[3297227, 3297246], [3298464, 3298562], [3298908, 3299004], [3299430, 3299780], [3304157, 3304790], [3306310, 3306587]]
ENST00000542898 [[3292027, 3293694], [3293859, 3293892], [3294135, 3294286], [3294472, 3294588], [3296524, 3296547], [3297015, 3297246], [3298908, 3299004], [3299430, 3299780], [3301956, 3302049], [3304157, 3304790], [3306310, 3306627]] [[3294170, 3294286], [3294472, 3294588], [3296524, 3296547], [3297015, 3297246], [3298908, 3299004], [3299430, 3299780], [3301956, 3302049], [3304157, 3304790], [3306310, 3306587]]
ENST00000339854 [[3292027, 3293694], [3293859, 3293892], [3294253, 3294286], [3294472, 3294588], [3296524, 3296547], [3297015, 3297246], [3298908, 3299004], [3299430, 3299780], [3301956, 3302049], [3306310, 3306627]] [[3293140, 3293694], [3293859, 3293892], [3294253, 3294286], [3294472, 3294588], [3296524, 3296547], [3297015, 3297246], [3298908, 3299004], [3299430, 3299780], [3301956, 3302049], [3306310, 3306587]]
ENST00000576315 [[3293140, 3293694], [3293859, 3293892], [3294253, 3294286], [3296524, 3296547], [3297015, 3297246], [3306310, 3306587]] [[3297235, 3297246], [3306310, 3306587]]
ENST00000570511 [[3293140, 3293694], [3293859, 3293892], [3296524, 3296547], [3297015, 3297246], [3304157, 3304790], [3306310, 3306587]] [[3297235, 3297246], [3304157, 3304790], [3306310, 3306587]]
ENST00000539145 [[3293140, 3293694], [3293859, 3293892], [3294253, 3294286], [3294472, 3294588], [3296524, 3296547], [3297015, 3297246], [3306310, 3306587]] [[3297235, 3297246], [3306310, 3306587]]
ENST00000574583 [[3293140, 3293694], [3293859, 3293892], [3296524, 3296547], [3297015, 3297246], [3306310, 3306587]] [[3297235, 3297246], [3306310, 3306587]]
ENST00000572244 [[3293140, 3293694], [3293859, 3293892], [3294253, 3294286], [3294472, 3294588], [3296524, 3296547], [3306310, 3306587]] [[3294582, 3294588], [3296524, 3296547], [3306310, 3306587]]
ENST00000536379 [[3293140, 3293694], [3293859, 3293892], [3294253, 3294286], [3294472, 3294588], [3296524, 3296547], [3297015, 3297246], [3298908, 3299004], [3299430, 3299780], [3306310, 3306587]] [[3293140, 3293694], [3293859, 3293892], [3294253, 3294286], [3294472, 3294588], [3296524, 3296547], [3297015, 3297246], [3298908, 3299004], [3299430, 3299780], [3306310, 3306587]]
ENST00000541159 [[3293140, 3293694], [3293859, 3294067], [3294253, 3294286], [3294472, 3294588], [3296524, 3296547], [3297015, 3297246], [3298908, 3299004], [3299430, 3299780], [3306310, 3306587]] [[3293690, 3293694], [3293859, 3294067], [3294253, 3294286], [3294472, 3294588], [3296524, 3296547], [3297015, 3297246], [3298908, 3299004], [3299430, 3299780], [3306310, 3306587]]
ENST00000539154 [[3296409, 3296547], [3297015, 3297967]] None
NM_000243 [[3292027, 3293694], [3293859, 3293892], [3294253, 3294286], [3294472, 3294588], [3296524, 3296547], [3297015, 3297246], [3298908, 3299004], [3299430, 3299780], [3304157, 3304790], [3306310, 3306627]] [[3293140, 3293694], [3293859, 3293892], [3294253, 3294286], [3294472, 3294588], [3296524, 3296547], [3297015, 3297246], [3298908, 3299004], [3299430, 3299780], [3304157, 3304790], [3306310, 3306587]]
NM_001198536 [[3292027, 3293694], [3293859, 3294067], [3294253, 3294286], [3294472, 3294588], [3296524, 3296547], [3297015, 3297246], [3298908, 3299004], [3299430, 3299780], [3306310, 3306627]] [[3293690, 3293694], [3293859, 3294067], [3294253, 3294286], [3294472, 3294588], [3296524, 3296547], [3297015, 3297246], [3298908, 3299004], [3299430, 3299780], [3306310, 3306587]]
Promoter
Chrom Start End Description
chr16 3306615 3306657 CAGE_peak_1_at_MEFV_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I003233 3233950 3236117 2.33 [{'connected_gene': 'ZNF200', 'score': 563.37}, {'connected_gene': 'CREBBP', 'score': 25.75}, {'connected_gene': 'ZNF263', 'score': 20.03}, {'connected_gene': 'LOC105371055', 'score': 17.54}, {'connected_gene': 'ENSG00000261938', 'score': 16.61}, {'connected_gene': 'ZNF597', 'score': 15.83}, {'connected_gene': 'SRRM2', 'score': 14.65}, {'connected_gene': 'AMDHD2', 'score': 12.61}, {'connected_gene': 'ZNF205', 'score': 12.53}, {'connected_gene': 'ERVK13-1', 'score': 12.09}, {'connected_gene': 'MTCO1P28', 'score': 11.95}, {'connected_gene': 'ENSG00000269937', 'score': 10.62}, {'connected_gene': 'MEFV', 'score': 10.61}, {'connected_gene': 'LOC102724927', 'score': 10.6}, {'connected_gene': 'ZNF174', 'score': 10.29}, {'connected_gene': 'ZSCAN10', 'score': 2.31}, {'connected_gene': 'PRSS22', 'score': 1.62}, {'connected_gene': 'ZNF75A', 'score': 1.37}, {'connected_gene': 'OR1F2P', 'score': 0.37}, {'connected_gene': 'GC16P003517', 'score': 0.34}]
chr16 GH16I003304 3304201 3306411 2.02 [{'connected_gene': 'ZNF75A', 'score': 568.25}, {'connected_gene': 'TIGD7', 'score': 550.77}, {'connected_gene': 'GC16P003515', 'score': 550.77}, {'connected_gene': 'CREBBP', 'score': 14.0}, {'connected_gene': 'ZNF263', 'score': 13.9}, {'connected_gene': 'SRRM2', 'score': 13.12}, {'connected_gene': 'LOC105371055', 'score': 12.58}, {'connected_gene': 'ZNF597', 'score': 10.82}, {'connected_gene': 'THOC6', 'score': 10.33}, {'connected_gene': 'ENSG00000261938', 'score': 10.2}, {'connected_gene': 'MEFV', 'score': 6.36}, {'connected_gene': 'ENSG00000262899', 'score': 4.94}, {'connected_gene': 'PIR38307', 'score': 0.77}]
chr16 GH16I003295 3295159 3295235 0.26 [{'connected_gene': 'C16orf90', 'score': 45.38}, {'connected_gene': 'ZNF263', 'score': 12.22}, {'connected_gene': 'ZNF200', 'score': 11.63}, {'connected_gene': 'MEFV', 'score': 11.53}, {'connected_gene': 'OR2C1', 'score': 10.98}, {'connected_gene': 'ZSCAN32', 'score': 10.86}, {'connected_gene': 'ZNF174', 'score': 10.86}, {'connected_gene': 'SLX4', 'score': 4.11}, {'connected_gene': 'ENSG00000279031', 'score': 0.77}, {'connected_gene': 'GC16P003498', 'score': 0.77}]
chr16 GH16I003296 3295455 3295619 0.22 [{'connected_gene': 'OR2C1', 'score': 15.67}, {'connected_gene': 'ZNF263', 'score': 12.22}, {'connected_gene': 'ZNF200', 'score': 11.63}, {'connected_gene': 'MEFV', 'score': 11.53}, {'connected_gene': 'ZSCAN32', 'score': 10.86}, {'connected_gene': 'ZNF174', 'score': 10.86}, {'connected_gene': 'C16orf90', 'score': 9.47}, {'connected_gene': 'OR1F1', 'score': 7.01}, {'connected_gene': 'SLX4', 'score': 2.83}, {'connected_gene': 'CLUAP1', 'score': 1.32}, {'connected_gene': 'ENSG00000279031', 'score': 0.77}, {'connected_gene': 'GC16P003498', 'score': 0.77}]
chr16 GH16I003255 3255001 3260793 1.95 [{'connected_gene': 'MEFV', 'score': 586.59}, {'connected_gene': 'MMP25', 'score': 21.6}, {'connected_gene': 'ZNF200', 'score': 10.39}, {'connected_gene': 'ZNF263', 'score': 6.44}, {'connected_gene': 'OR2C1', 'score': 6.29}, {'connected_gene': 'TIGD7', 'score': 6.23}, {'connected_gene': 'ZNF75A', 'score': 5.71}, {'connected_gene': 'PRSS33', 'score': 2.83}, {'connected_gene': 'NAA60', 'score': 1.87}, {'connected_gene': 'ZNF597', 'score': 1.45}, {'connected_gene': 'LINC00921', 'score': 0.44}]
chr16 GH16I003248 3248891 3250420 0.31 [{'connected_gene': 'MEFV', 'score': 26.86}, {'connected_gene': 'PIR46344', 'score': 0.77}, {'connected_gene': 'ZNF200', 'score': 0.39}]
chr16 GH16I003242 3242496 3244943 0.54 [{'connected_gene': 'MEFV', 'score': 27.18}, {'connected_gene': 'ZNF200', 'score': 0.44}, {'connected_gene': 'PIR46344', 'score': 0.39}]
chr16 GH16I003251 3251018 3252123 0.2 [{'connected_gene': 'MEFV', 'score': 6.8}, {'connected_gene': 'ZNF75A', 'score': 6.5}, {'connected_gene': 'MMP25', 'score': 4.91}, {'connected_gene': 'PIR46344', 'score': 0.77}, {'connected_gene': 'ZNF200', 'score': 0.37}]
chr16 GH16I002860 2860810 2860987 0.25 [{'connected_gene': 'MEFV', 'score': 10.72}, {'connected_gene': 'PDPK1', 'score': 4.34}, {'connected_gene': 'SRRM2', 'score': 2.54}, {'connected_gene': 'ZNF200', 'score': 2.3}, {'connected_gene': 'ATP6V0C', 'score': 1.53}, {'connected_gene': 'PRSS22', 'score': 0.77}, {'connected_gene': 'GC16P003028', 'score': 0.44}]
chr16 GH16I003254 3254601 3254800 0.4 [{'connected_gene': 'MEFV', 'score': 557.7}, {'connected_gene': 'PIR46344', 'score': 550.77}]
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 GH16I003214 3214400 3217051 0.63 [{'connected_gene': 'OR1F2P', 'score': 550.77}, {'connected_gene': 'MEFV', 'score': 21.67}, {'connected_gene': 'ZNF200', 'score': 12.3}, {'connected_gene': 'ZNF75A', 'score': 11.02}, {'connected_gene': 'TIGD7', 'score': 11.01}, {'connected_gene': 'NAA60', 'score': 10.74}, {'connected_gene': 'ZNF597', 'score': 10.74}, {'connected_gene': 'ZSCAN32', 'score': 10.57}, {'connected_gene': 'ZNF174', 'score': 10.57}, {'connected_gene': 'OR2C1', 'score': 10.53}, {'connected_gene': 'RPL18P12', 'score': 10.48}, {'connected_gene': 'C16orf90', 'score': 10.48}, {'connected_gene': 'CLUAP1', 'score': 10.42}, {'connected_gene': 'MMP25', 'score': 5.53}, {'connected_gene': 'GC16P003517', 'score': 0.77}, {'connected_gene': 'ENSG00000262668', 'score': 0.31}]
chr16 GH16I003442 3442601 3444850 1.92 [{'connected_gene': 'ZNF597', 'score': 580.85}, {'connected_gene': 'NAA60', 'score': 550.77}, {'connected_gene': 'ZNF200', 'score': 23.39}, {'connected_gene': 'CREBBP', 'score': 19.79}, {'connected_gene': 'AMDHD2', 'score': 12.61}, {'connected_gene': 'ENSG00000261938', 'score': 11.93}, {'connected_gene': 'MEFV', 'score': 11.13}, {'connected_gene': 'ZNF75A', 'score': 10.92}, {'connected_gene': 'TIGD7', 'score': 10.92}, {'connected_gene': 'ZNF263', 'score': 10.16}, {'connected_gene': 'SRRM2', 'score': 9.79}, {'connected_gene': 'NLRC3', 'score': 5.63}, {'connected_gene': 'ENSG00000263212', 'score': 0.39}, {'connected_gene': 'ENSG00000262621', 'score': 0.18}]
chr16 GH16I002795 2795346 2796821 1.36 [{'connected_gene': 'SNORA3C', 'score': 550.77}, {'connected_gene': 'GC16M002798', 'score': 550.77}, {'connected_gene': 'MEFV', 'score': 6.61}, {'connected_gene': 'PDPK1', 'score': 5.01}, {'connected_gene': 'SRRM2', 'score': 2.66}, {'connected_gene': 'ATP6V0C', 'score': 1.75}, {'connected_gene': 'ZNF200', 'score': 1.34}, {'connected_gene': 'OR1F1', 'score': 1.12}, {'connected_gene': 'GC16M002791', 'score': 0.77}, {'connected_gene': 'PRSS33', 'score': 0.44}]
chr16 GH16I003003 3003600 3012032 2.06 [{'connected_gene': 'LOC107984895', 'score': 588.75}, {'connected_gene': 'LOC105371056', 'score': 550.77}, {'connected_gene': 'CREBBP', 'score': 51.42}, {'connected_gene': 'ZNF597', 'score': 49.41}, {'connected_gene': 'MMP25', 'score': 49.3}, {'connected_gene': 'AMDHD2', 'score': 39.4}, {'connected_gene': 'SRRM2', 'score': 31.21}, {'connected_gene': 'ZNF598', 'score': 31.07}, {'connected_gene': 'ZNF263', 'score': 28.3}, {'connected_gene': 'ZNF200', 'score': 23.9}, {'connected_gene': 'THOC6', 'score': 22.14}, {'connected_gene': 'TRAF7', 'score': 21.84}, {'connected_gene': 'E4F1', 'score': 13.22}, {'connected_gene': 'LOC105371055', 'score': 13.16}, {'connected_gene': 'ENSG00000261938', 'score': 12.81}, {'connected_gene': 'TSC2', 'score': 11.28}, {'connected_gene': 'SNORD60', 'score': 11.09}, {'connected_gene': 'MTCO1P28', 'score': 10.25}, {'connected_gene': 'LOC105371050', 'score': 9.83}, {'connected_gene': 'BICDL2', 'score': 7.82}, {'connected_gene': 'CLDN9', 'score': 7.14}, {'connected_gene': 'ENSG00000270168', 'score': 6.6}, {'connected_gene': 'PAQR4', 'score': 6.38}, {'connected_gene': 'LOC100128770', 'score': 6.03}, {'connected_gene': 'MEFV', 'score': 5.6}, {'connected_gene': 'PDPK1', 'score': 5.42}, {'connected_gene': 'ATP6V0C', 'score': 5.15}, {'connected_gene': 'FLYWCH1', 'score': 5.04}, {'connected_gene': 'PRSS22', 'score': 3.67}, {'connected_gene': 'PRSS33', 'score': 3.12}, {'connected_gene': 'NAA60', 'score': 2.16}, {'connected_gene': 'ZSCAN32', 'score': 1.34}, {'connected_gene': 'ENSG00000262362', 'score': 0.77}, {'connected_gene': 'PIR52190', 'score': 0.77}]
chr16 GH16I003069 3069467 3079292 1.57 [{'connected_gene': 'GC16P003518', 'score': 550.77}, {'connected_gene': 'ZNF205', 'score': 26.65}, {'connected_gene': 'LOC105371058', 'score': 23.9}, {'connected_gene': 'MMP25', 'score': 21.34}, {'connected_gene': 'IL32', 'score': 15.31}, {'connected_gene': 'FLYWCH2', 'score': 15.0}, {'connected_gene': 'BICDL2', 'score': 11.73}, {'connected_gene': 'LOC100128770', 'score': 11.72}, {'connected_gene': 'HCFC1R1', 'score': 11.69}, {'connected_gene': 'THOC6', 'score': 11.69}, {'connected_gene': 'CLDN6', 'score': 11.69}, {'connected_gene': 'TNFRSF12A', 'score': 11.11}, {'connected_gene': 'MTND1P8', 'score': 11.04}, {'connected_gene': 'RNPS1', 'score': 10.47}, {'connected_gene': 'ZNF75A', 'score': 10.4}, {'connected_gene': 'MTRNR2L4', 'score': 10.34}, {'connected_gene': 'ENSG00000261123', 'score': 10.28}, {'connected_gene': 'MTCO1P28', 'score': 10.15}, {'connected_gene': 'LOC105371049', 'score': 9.84}, {'connected_gene': 'ZNF597', 'score': 9.81}, {'connected_gene': 'TIGD7', 'score': 9.73}, {'connected_gene': 'ZNF213', 'score': 7.14}, {'connected_gene': 'ZNF205-AS1', 'score': 5.55}, {'connected_gene': 'ZNF213-AS1', 'score': 4.85}, {'connected_gene': 'PRSS33', 'score': 3.6}, {'connected_gene': 'ZNF200', 'score': 3.41}, {'connected_gene': 'ZSCAN32', 'score': 3.31}, {'connected_gene': 'MEFV', 'score': 2.04}, {'connected_gene': 'NAA60', 'score': 1.73}, {'connected_gene': 'SRRM2', 'score': 1.16}, {'connected_gene': 'RNU1-125P', 'score': 0.77}]
chr16 GH16I003552 3552906 3553660 0.38 [{'connected_gene': 'GC16M003552', 'score': 550.77}, {'connected_gene': 'NLRC3', 'score': 12.22}, {'connected_gene': 'CLUAP1', 'score': 11.29}, {'connected_gene': 'TRAP1', 'score': 10.11}, {'connected_gene': 'MEFV', 'score': 9.88}, {'connected_gene': 'DNASE1', 'score': 9.25}, {'connected_gene': 'LOC101929732', 'score': 0.39}]
chr16 GH16I003554 3554237 3554992 0.31 [{'connected_gene': 'GC16M003552', 'score': 550.77}, {'connected_gene': 'NLRC3', 'score': 12.25}, {'connected_gene': 'CLUAP1', 'score': 11.29}, {'connected_gene': 'TRAP1', 'score': 10.11}, {'connected_gene': 'MEFV', 'score': 9.88}, {'connected_gene': 'LOC101929732', 'score': 0.39}]
chr16 GH16I003292 3292701 3292910 0.31 [{'connected_gene': 'ENSG00000279031', 'score': 550.77}, {'connected_gene': 'ZNF263', 'score': 11.49}, {'connected_gene': 'MEFV', 'score': 11.35}, {'connected_gene': 'ZNF200', 'score': 11.18}, {'connected_gene': 'NAA60', 'score': 11.1}, {'connected_gene': 'ZNF597', 'score': 11.1}, {'connected_gene': 'ZSCAN32', 'score': 10.92}, {'connected_gene': 'ZNF174', 'score': 10.92}, {'connected_gene': 'ENSG00000279330', 'score': 0.37}]
chr16 GH16I003156 3156900 3160687 2.07 [{'connected_gene': 'GC16M003157', 'score': 550.77}, {'connected_gene': 'TRK-CTT3-1', 'score': 550.77}, {'connected_gene': 'TRP-TGG3-3', 'score': 550.77}, {'connected_gene': 'ZNF75A', 'score': 54.9}, {'connected_gene': 'ZNF213-AS1', 'score': 51.47}, {'connected_gene': 'ZNF205', 'score': 44.76}, {'connected_gene': 'E4F1', 'score': 32.34}, {'connected_gene': 'RNPS1', 'score': 22.36}, {'connected_gene': 'PDPK2P', 'score': 22.01}, {'connected_gene': 'LOC652276', 'score': 20.73}, {'connected_gene': 'MTCO1P28', 'score': 20.47}, {'connected_gene': 'ZNF174', 'score': 19.35}, {'connected_gene': 'TIGD7', 'score': 18.59}, {'connected_gene': 'ZSCAN32', 'score': 18.51}, {'connected_gene': 'CLUAP1', 'score': 13.2}, {'connected_gene': 'LOC106660606', 'score': 12.83}, {'connected_gene': 'ERVK13-1', 'score': 12.7}, {'connected_gene': 'ENSG00000260095', 'score': 12.25}, {'connected_gene': 'PDPK1', 'score': 11.24}, {'connected_gene': 'ENSG00000261938', 'score': 10.53}, {'connected_gene': 'FLYWCH1', 'score': 10.42}, {'connected_gene': 'MLST8', 'score': 10.37}, {'connected_gene': 'MTND1P8', 'score': 10.13}, {'connected_gene': 'SLX4', 'score': 10.06}, {'connected_gene': 'MTRNR2L4', 'score': 9.75}, {'connected_gene': 'ZNF213', 'score': 7.57}, {'connected_gene': 'ZNF205-AS1', 'score': 5.83}, {'connected_gene': 'NLRC3', 'score': 5.4}, {'connected_gene': 'MEFV', 'score': 3.86}, {'connected_gene': 'ZNF200', 'score': 3.82}, {'connected_gene': 'SRRM2', 'score': 3.21}, {'connected_gene': 'ZNF597', 'score': 1.19}]

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