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
ENST00000304936 [[3405888, 3406924]] [[3405940, 3406879]]
NM_012368 [[3405888, 3406924]] [[3405940, 3406879]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I003400 3400000 3402437 2.07 [{'connected_gene': 'ZNF174', 'score': 560.96}, {'connected_gene': 'ZSCAN32', 'score': 560.47}, {'connected_gene': 'ZNF597', 'score': 41.27}, {'connected_gene': 'TIGD7', 'score': 34.22}, {'connected_gene': 'CREBBP', 'score': 34.1}, {'connected_gene': 'ZNF75A', 'score': 31.31}, {'connected_gene': 'CLUAP1', 'score': 28.2}, {'connected_gene': 'ZNF200', 'score': 23.41}, {'connected_gene': 'MTCO1P28', 'score': 23.33}, {'connected_gene': 'SRRM2', 'score': 22.65}, {'connected_gene': 'ZNF263', 'score': 19.67}, {'connected_gene': 'LOC105371055', 'score': 17.52}, {'connected_gene': 'ENSG00000261938', 'score': 16.65}, {'connected_gene': 'FLYWCH2', 'score': 14.92}, {'connected_gene': 'AMDHD2', 'score': 12.61}, {'connected_gene': 'ERVK13-1', 'score': 12.09}, {'connected_gene': 'NAA60', 'score': 11.94}, {'connected_gene': 'LOC105371050', 'score': 11.01}, {'connected_gene': 'MTND1P8', 'score': 10.92}, {'connected_gene': 'ZNF213-AS1', 'score': 10.88}, {'connected_gene': 'ENSG00000269937', 'score': 10.62}, {'connected_gene': 'OR2C1', 'score': 10.32}, {'connected_gene': 'ZNF205', 'score': 10.25}, {'connected_gene': 'MTRNR2L4', 'score': 9.95}, {'connected_gene': 'PDPK2P', 'score': 9.74}, {'connected_gene': 'TRAP1', 'score': 6.18}, {'connected_gene': 'GC16P003519', 'score': 0.44}, {'connected_gene': 'ENSG00000262621', 'score': 0.28}]
chr16 GH16I003267 3267812 3268834 0.38 [{'connected_gene': 'ZNF75A', 'score': 31.25}, {'connected_gene': 'TIGD7', 'score': 11.36}, {'connected_gene': 'ZNF200', 'score': 11.21}, {'connected_gene': 'NAA60', 'score': 10.75}, {'connected_gene': 'ZNF597', 'score': 10.75}, {'connected_gene': 'ZSCAN32', 'score': 10.66}, {'connected_gene': 'ZNF174', 'score': 10.66}, {'connected_gene': 'OR2C1', 'score': 10.22}, {'connected_gene': 'ZNF263', 'score': 0.77}, {'connected_gene': 'ENSG00000279330', 'score': 0.44}]
chr16 GH16I003266 3266800 3267201 0.84 [{'connected_gene': 'ZNF75A', 'score': 29.32}, {'connected_gene': 'ZNF200', 'score': 11.88}, {'connected_gene': 'TIGD7', 'score': 11.54}, {'connected_gene': 'NAA60', 'score': 10.75}, {'connected_gene': 'ZNF597', 'score': 10.75}, {'connected_gene': 'ZSCAN32', 'score': 10.66}, {'connected_gene': 'ZNF174', 'score': 10.66}, {'connected_gene': 'OR2C1', 'score': 10.55}, {'connected_gene': 'ZNF263', 'score': 6.53}, {'connected_gene': 'LINC00921', 'score': 0.77}, {'connected_gene': 'ENSG00000279330', 'score': 0.44}]
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 GH16I003431 3431602 3432423 0.92 [{'connected_gene': 'ZSCAN32', 'score': 11.86}, {'connected_gene': 'ZNF174', 'score': 11.86}, {'connected_gene': 'ZNF263', 'score': 11.32}, {'connected_gene': 'ZNF75A', 'score': 11.25}, {'connected_gene': 'TIGD7', 'score': 11.25}, {'connected_gene': 'OR2C1', 'score': 11.05}, {'connected_gene': 'ZNF200', 'score': 10.81}, {'connected_gene': 'ZNF597', 'score': 8.1}, {'connected_gene': 'PIR34295', 'score': 0.77}, {'connected_gene': 'GC16P003519', 'score': 0.31}, {'connected_gene': 'ENSG00000262621', 'score': 0.2}]
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 GH16I003462 3462084 3462361 0.22 [{'connected_gene': 'OR1F1', 'score': 9.34}, {'connected_gene': 'OR2C1', 'score': 5.6}, {'connected_gene': 'CLUAP1', 'score': 4.67}, {'connected_gene': 'TIGD7', 'score': 1.48}, {'connected_gene': 'ENSG00000263212', 'score': 0.77}, {'connected_gene': 'GC16M003477', 'score': 0.37}, {'connected_gene': 'NAA60', 'score': 0.37}, {'connected_gene': 'ENSG00000262621', 'score': 0.15}]
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 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 GH16I003358 3358431 3360228 0.2 [{'connected_gene': 'TRAP1', 'score': 4.7}, {'connected_gene': 'OR2C1', 'score': 0.77}, {'connected_gene': 'LOC105371059', 'score': 0.44}]
chr16 GH16I003105 3105248 3107484 2.08 [{'connected_gene': 'ENSG00000263011', 'score': 550.77}, {'connected_gene': 'ZNF205', 'score': 44.28}, {'connected_gene': 'MTCO1P28', 'score': 21.1}, {'connected_gene': 'LOC105371050', 'score': 18.29}, {'connected_gene': 'ZNF213-AS1', 'score': 16.63}, {'connected_gene': 'TIGD7', 'score': 14.3}, {'connected_gene': 'MTND1P8', 'score': 12.75}, {'connected_gene': 'CLUAP1', 'score': 11.69}, {'connected_gene': 'MTRNR2L4', 'score': 10.86}, {'connected_gene': 'OR2C1', 'score': 3.11}, {'connected_gene': 'OR1F1', 'score': 2.42}, {'connected_gene': 'PAQR4', 'score': 1.49}, {'connected_gene': 'ZSCAN10', 'score': 0.44}]