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
ENST00000575672 [[4307186, 4308799]] None
ENST00000204517 [[4307186, 4308250], [4310090, 4310246], [4310455, 4310596], [4311779, 4311950], [4312324, 4312423], [4312536, 4312702], [4322658, 4323076]] [[4308055, 4308250], [4310090, 4310246], [4310455, 4310596], [4311779, 4311950], [4312324, 4312423], [4312536, 4312702], [4322658, 4322747]]
ENST00000575320 [[4307187, 4308250], [4310090, 4310596], [4311779, 4311950], [4312324, 4312423], [4312536, 4317188]] None
ENST00000574639 [[4308189, 4308250], [4310090, 4310246], [4310455, 4310596], [4322658, 4322895]] [[4310550, 4310596], [4322658, 4322747]]
ENST00000573476 [[4310455, 4310596], [4311779, 4311950], [4312324, 4312423], [4312536, 4312702], [4318048, 4318082], [4322658, 4322832]] [[4311834, 4311950], [4312324, 4312423], [4312536, 4312702], [4318048, 4318082], [4322658, 4322747]]
ENST00000575300 [[4310498, 4310596], [4311779, 4312423], [4312536, 4312702], [4322658, 4323076]] None
ENST00000572393 [[4311779, 4311950], [4312324, 4312423], [4312536, 4312702], [4313667, 4313738]] [[4311779, 4311950], [4312324, 4312423], [4312536, 4312611]]
NM_003223 [[4307186, 4308250], [4310090, 4310246], [4310455, 4310596], [4311779, 4311950], [4312324, 4312423], [4312536, 4312702], [4322658, 4323001]] [[4308055, 4308250], [4310090, 4310246], [4310455, 4310596], [4311779, 4311950], [4312324, 4312423], [4312536, 4312702], [4322658, 4322747]]
Promoter
Chrom Start End Description
chr16 4322832 4322907 CAGE_peak_1_at_TFAP4_5end
chr16 4322948 4322975 CAGE_peak_3_at_TFAP4_5end
chr16 4323015 4323067 CAGE_peak_2_at_TFAP4_5end
chr16 4323246 4323299 CAGE_peak_5_at_TFAP4_5end
chr16 4323301 4323317 CAGE_peak_7_at_TFAP4_5end
chr16 4323323 4323333 CAGE_peak_4_at_TFAP4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I004270 4270487 4274942 2.64 [{'connected_gene': 'TFAP4', 'score': 552.45}, {'connected_gene': 'GC16P004274', 'score': 550.77}, {'connected_gene': 'ZNF75A', 'score': 53.97}, {'connected_gene': 'ZNF500', 'score': 49.57}, {'connected_gene': 'CREBBP', 'score': 31.96}, {'connected_gene': 'ANKS3', 'score': 26.12}, {'connected_gene': 'ENSG00000261938', 'score': 23.48}, {'connected_gene': 'TIGD7', 'score': 18.51}, {'connected_gene': 'CLUAP1', 'score': 13.18}, {'connected_gene': 'ZNF597', 'score': 12.81}, {'connected_gene': 'ENSG00000263235', 'score': 11.29}, {'connected_gene': 'ZNF174', 'score': 11.09}, {'connected_gene': 'MTCO1P28', 'score': 10.81}, {'connected_gene': 'LINC01569', 'score': 10.77}, {'connected_gene': 'MTND1P8', 'score': 10.08}, {'connected_gene': 'ZSCAN32', 'score': 9.89}, {'connected_gene': 'CDIP1', 'score': 2.77}, {'connected_gene': 'HMOX2', 'score': 1.77}, {'connected_gene': 'PAM16', 'score': 1.41}, {'connected_gene': 'MGRN1', 'score': 1.37}, {'connected_gene': 'UBALD1', 'score': 1.29}, {'connected_gene': 'GC16M004260', 'score': 0.39}]
chr16 GH16I004271 4270327 4270329 0.58 [{'connected_gene': 'TFAP4', 'score': 0.77}, {'connected_gene': 'GC16M004260', 'score': 0.44}]
chr16 GH16I004263 4263182 4265322 1.17 [{'connected_gene': 'LINC01569', 'score': 7.19}, {'connected_gene': 'GC16M004260', 'score': 0.77}, {'connected_gene': 'TFAP4', 'score': 0.44}]
chr16 GH16I004261 4261680 4261849 0.69 [{'connected_gene': 'GC16M004260', 'score': 550.77}, {'connected_gene': 'TFAP4', 'score': 0.39}]
chr16 GH16I003625 3625556 3627260 0.89 [{'connected_gene': 'GC16M003627', 'score': 550.77}, {'connected_gene': 'NLRC3', 'score': 21.28}, {'connected_gene': 'ZNF263', 'score': 11.04}, {'connected_gene': 'TFAP4', 'score': 10.51}, {'connected_gene': 'DNASE1', 'score': 10.28}, {'connected_gene': 'GC16P003615', 'score': 0.39}]
chr16 GH16I004257 4257479 4258747 0.71 [{'connected_gene': 'GC16M004257', 'score': 550.77}, {'connected_gene': 'CREBBP', 'score': 10.51}, {'connected_gene': 'LINC01569', 'score': 6.15}, {'connected_gene': 'LOC105371063', 'score': 0.77}, {'connected_gene': 'TFAP4', 'score': 0.39}]
chr16 GH16I004260 4260012 4261067 0.72 [{'connected_gene': 'GC16M004257', 'score': 550.77}, {'connected_gene': 'GC16M004260', 'score': 550.77}, {'connected_gene': 'LINC01569', 'score': 7.83}, {'connected_gene': 'TFAP4', 'score': 0.39}]