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
ENST00000314391 [[58469804, 58470085], [58472758, 58472919], [58477897, 58478000], [58483830, 58483872], [58485466, 58485571], [58485679, 58485902]] [[58469969, 58470085], [58472758, 58472919], [58477897, 58478000], [58483830, 58483872], [58485466, 58485571], [58485679, 58485800]]
NM_152474 [[58469804, 58470085], [58472758, 58472919], [58477897, 58478000], [58483830, 58483872], [58485466, 58485571], [58485679, 58485902]] [[58469969, 58470085], [58472758, 58472919], [58477897, 58478000], [58483830, 58483872], [58485466, 58485571], [58485679, 58485800]]
Promoter
Chrom Start End Description
chr19 58485895 58485905 CAGE_peak_1_at_C19orf18_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I057934 57934401 57936022 1.75 [{'connected_gene': 'ZNF418', 'score': 550.77}, {'connected_gene': 'LOC100128398', 'score': 20.73}, {'connected_gene': 'C19orf18', 'score': 10.95}, {'connected_gene': 'ZNF587', 'score': 10.23}, {'connected_gene': 'ZNF671', 'score': 9.81}, {'connected_gene': 'VN1R1', 'score': 9.5}, {'connected_gene': 'PIR52698', 'score': 0.77}]
chr19 GH19I057974 57974521 57974580 0.5 [{'connected_gene': 'C19orf18', 'score': 550.77}, {'connected_gene': 'LOC100128398', 'score': 0.31}]
chr19 GH19I058203 58203870 58204863 0.65 [{'connected_gene': 'LOC105372483', 'score': 11.38}, {'connected_gene': 'ZNF837', 'score': 9.9}, {'connected_gene': 'ZNF544', 'score': 9.62}, {'connected_gene': 'C19orf18', 'score': 1.8}, {'connected_gene': 'GC19P058214', 'score': 0.44}, {'connected_gene': 'ZNF274', 'score': 0.34}]
chr19 GH19I057990 57990537 57990829 0.24 [{'connected_gene': 'LOC100128398', 'score': 29.37}, {'connected_gene': 'ZNF606', 'score': 6.27}, {'connected_gene': 'ZSCAN4', 'score': 4.45}, {'connected_gene': 'ZSCAN1', 'score': 2.55}, {'connected_gene': 'ZIK1', 'score': 2.52}, {'connected_gene': 'ZSCAN18', 'score': 2.48}, {'connected_gene': 'ZNF418', 'score': 2.37}, {'connected_gene': 'ZNF134', 'score': 2.19}, {'connected_gene': 'ZNF549', 'score': 2.16}, {'connected_gene': 'ZNF132', 'score': 1.92}, {'connected_gene': 'ZNF416', 'score': 1.8}, {'connected_gene': 'ZNF154', 'score': 1.79}, {'connected_gene': 'ZNF135', 'score': 1.7}, {'connected_gene': 'ZNF814', 'score': 1.65}, {'connected_gene': 'ZNF256', 'score': 1.6}, {'connected_gene': 'ZNF329', 'score': 1.58}, {'connected_gene': 'ZNF550', 'score': 1.54}, {'connected_gene': 'ZNF417', 'score': 1.47}, {'connected_gene': 'ZNF8', 'score': 1.46}, {'connected_gene': 'ZNF671', 'score': 1.43}, {'connected_gene': 'ZNF776', 'score': 1.33}, {'connected_gene': 'ZNF773', 'score': 1.13}, {'connected_gene': 'C19orf18', 'score': 0.37}]
chr19 GH19I058045 58045056 58045188 0.4 [{'connected_gene': 'PIR58144', 'score': 550.77}, {'connected_gene': 'LETM1P2', 'score': 550.77}, {'connected_gene': 'GC19P058060', 'score': 550.77}, {'connected_gene': 'GC19P058061', 'score': 550.77}, {'connected_gene': 'PIR59768', 'score': 550.77}, {'connected_gene': 'C19orf18', 'score': 48.55}, {'connected_gene': 'ZSCAN18', 'score': 12.98}, {'connected_gene': 'ZNF329', 'score': 12.79}, {'connected_gene': 'ZSCAN1', 'score': 1.75}]