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
ENST00000530711 [[361749, 362426], [367064, 367224], [374298, 374620]] [[362258, 362426], [367064, 367224], [374298, 374620]]
ENST00000342640 [[362056, 362426], [367064, 367224], [371204, 371322], [372630, 372700], [373469, 373531], [373939, 374011], [374298, 374421], [375662, 376013]] [[362199, 362426], [367064, 367224], [371204, 371322], [372630, 372700], [373469, 373531], [373939, 374011], [374298, 374421], [375662, 375970]]
ENST00000346878 [[362199, 362426], [367064, 367224], [371204, 371322], [372630, 372700], [373469, 373531], [374298, 374421], [375662, 375970]] [[362199, 362426], [367064, 367224], [371204, 371322], [372630, 372700], [373469, 373531], [374298, 374421], [375662, 375970]]
ENST00000528213 [[367201, 367224], [371204, 371322], [372630, 372700], [373469, 373531], [373939, 374249]] None
NM_016585 [[362056, 362426], [367064, 367224], [371204, 371322], [372630, 372700], [373469, 373531], [373939, 374011], [374298, 374421], [375662, 376013]] [[362199, 362426], [367064, 367224], [371204, 371322], [372630, 372700], [373469, 373531], [373939, 374011], [374298, 374421], [375662, 375970]]
NM_199202 [[362056, 362426], [367064, 367224], [371204, 371322], [372630, 372700], [373469, 373531], [374298, 374421], [375662, 376013]] [[362199, 362426], [367064, 367224], [371204, 371322], [372630, 372700], [373469, 373531], [374298, 374421], [375662, 375970]]
Promoter
Chrom Start End Description
chr19 374052 374070 CAGE_peak_1_at_THEG_5end
chr19 374072 374083 CAGE_peak_3_at_THEG_5end
chr19 374095 374106 CAGE_peak_4_at_THEG_5end
chr19 375988 375996 CAGE_peak_5_at_THEG_5end
chr19 376011 376031 CAGE_peak_2_at_THEG_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I000282 282030 282499 0.46 [{'connected_gene': 'PLPP2', 'score': 15.44}, {'connected_gene': 'THEG', 'score': 11.37}, {'connected_gene': 'C2CD4C', 'score': 11.03}, {'connected_gene': 'VN2R11P', 'score': 0.77}]
chr19 GH19I000341 341955 345413 2.15 [{'connected_gene': 'MIER2', 'score': 559.02}, {'connected_gene': 'THEG', 'score': 11.55}, {'connected_gene': 'GC19M000319', 'score': 0.44}]
chr19 GH19I000417 417243 418286 0.38 [{'connected_gene': 'THEG', 'score': 11.62}, {'connected_gene': 'SHC2', 'score': 8.14}, {'connected_gene': 'C2CD4C', 'score': 6.16}, {'connected_gene': 'LOC101928450', 'score': 5.62}, {'connected_gene': 'PIR44542', 'score': 0.44}, {'connected_gene': 'PIR54633', 'score': 0.39}]
chr19 GH19I000376 376016 376075 0.5 [{'connected_gene': 'THEG', 'score': 550.77}, {'connected_gene': 'GC19M000365', 'score': 0.77}, {'connected_gene': 'GC19P000369', 'score': 0.44}]
chr19 GH19I000377 376636 376695 0.5 [{'connected_gene': 'THEG', 'score': 550.77}, {'connected_gene': 'GC19M000365', 'score': 550.77}, {'connected_gene': 'GC19P000369', 'score': 0.44}]
chr19 GH19I000281 281077 281835 0.54 [{'connected_gene': 'VN2R11P', 'score': 550.77}, {'connected_gene': 'GC19P000280', 'score': 550.77}, {'connected_gene': 'THEG', 'score': 11.37}, {'connected_gene': 'PLPP2', 'score': 11.34}, {'connected_gene': 'C2CD4C', 'score': 11.03}]
chr19 GH19I000280 280241 281011 0.49 [{'connected_gene': 'VN2R11P', 'score': 550.77}, {'connected_gene': 'GC19P000280', 'score': 550.77}, {'connected_gene': 'THEG', 'score': 11.37}, {'connected_gene': 'C2CD4C', 'score': 11.03}, {'connected_gene': 'WASH5P', 'score': 9.74}, {'connected_gene': 'PLPP2', 'score': 8.79}]
chr19 GH19I000605 604629 604764 0.48 [{'connected_gene': 'GC19P000606', 'score': 550.77}, {'connected_gene': 'THEG', 'score': 1.48}, {'connected_gene': 'LOC100420586', 'score': 0.39}, {'connected_gene': 'HCN2', 'score': 0.39}]
chr19 GH19I000371 371464 373077 0.49 [{'connected_gene': 'GC19P000369', 'score': 0.77}, {'connected_gene': 'THEG', 'score': 0.77}, {'connected_gene': 'GC19M000365', 'score': 0.44}]
chr19 GH19I000412 412090 412750 0.62 [{'connected_gene': 'PIR44542', 'score': 550.77}, {'connected_gene': 'THEG', 'score': 11.63}, {'connected_gene': 'PIR54633', 'score': 0.37}]