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
ENST00000541222 [[13056668, 13056834], [13058661, 13058823], [13058990, 13059172], [13059499, 13059627], [13059894, 13059973], [13060088, 13060222], [13063502, 13063667], [13063749, 13064083]] [[13059522, 13059627], [13059894, 13059973], [13060088, 13060222], [13063502, 13063667], [13063749, 13063863]]
ENST00000591499 [[13056668, 13056834], [13058661, 13058823], [13058990, 13059172], [13059499, 13059627], [13059894, 13059973], [13060088, 13060222], [13063502, 13063667], [13063749, 13064083]] [[13056762, 13056834], [13058661, 13058823], [13058990, 13059172], [13059499, 13059512]]
ENST00000588329 [[13056679, 13056834], [13058661, 13058823], [13058990, 13059172], [13059310, 13059366], [13059499, 13059973], [13060091, 13060096]] None
ENST00000316856 [[13056689, 13056834], [13058661, 13058823], [13058990, 13059172], [13059310, 13059366], [13059499, 13059627], [13059894, 13059973], [13060091, 13060222], [13063502, 13063667], [13063749, 13064437]] [[13056762, 13056834], [13058661, 13058823], [13058990, 13059172], [13059310, 13059366], [13059499, 13059627], [13059894, 13059973], [13060091, 13060222], [13063502, 13063667], [13063749, 13063863]]
ENST00000586534 [[13056701, 13056834], [13058661, 13058823], [13058990, 13059172], [13059310, 13059366], [13059499, 13059627], [13059894, 13059973], [13060088, 13060222], [13063502, 13063667], [13063749, 13064456]] [[13056762, 13056834], [13058661, 13058823], [13058990, 13059172], [13059310, 13059366], [13059499, 13059627], [13059894, 13059973], [13060088, 13060222], [13063502, 13063667], [13063749, 13063863]]
ENST00000592268 [[13056705, 13056834], [13058661, 13058823], [13058990, 13059172], [13059310, 13059366], [13059499, 13059627], [13059894, 13059973], [13060088, 13060222], [13063749, 13064405]] [[13056762, 13056834], [13058661, 13058823], [13058990, 13059172], [13059310, 13059366], [13059499, 13059627], [13059894, 13059973], [13060088, 13060222], [13063749, 13063863]]
ENST00000593114 [[13056707, 13056834], [13058661, 13058823], [13058990, 13059172], [13059327, 13059366], [13059499, 13059627], [13059894, 13059973], [13060091, 13060222], [13063502, 13063667], [13063749, 13064427]] [[13056762, 13056834], [13058661, 13058823], [13058990, 13059172], [13059327, 13059331]]
ENST00000588826 [[13056818, 13056834], [13058661, 13058823], [13058990, 13059172], [13059310, 13059366], [13059499, 13059627], [13059894, 13059973], [13060091, 13060222], [13060312, 13060390]] None
ENST00000586375 [[13059502, 13059627], [13060088, 13060222], [13063502, 13063667], [13063749, 13064219]] [[13059502, 13059627], [13060088, 13060151]]
ENST00000590881 [[13059897, 13059973], [13060091, 13060222], [13063502, 13063634], [13063749, 13064409]] [[13059897, 13059973], [13060091, 13060222], [13063502, 13063634], [13063749, 13063863]]
ENST00000591467 [[13063177, 13063667], [13063749, 13063804]] None
NR_072976 [[13056627, 13056834], [13058661, 13058823], [13058990, 13059172], [13059499, 13059627], [13059894, 13059973], [13060088, 13060222], [13063502, 13063667], [13063749, 13064457]] None
NM_001270362 [[13056627, 13056834], [13058661, 13058823], [13058990, 13059172], [13059310, 13059366], [13059499, 13059627], [13059894, 13059973], [13060091, 13060222], [13063502, 13063667], [13063749, 13064457]] [[13056762, 13056834], [13058661, 13058823], [13058990, 13059172], [13059310, 13059366], [13059499, 13059627], [13059894, 13059973], [13060091, 13060222], [13063502, 13063667], [13063749, 13063863]]
NM_001270363 [[13056627, 13056834], [13058661, 13058823], [13058990, 13059172], [13059310, 13059366], [13059499, 13059627], [13059894, 13059973], [13060088, 13060222], [13063749, 13064457]] [[13056762, 13056834], [13058661, 13058823], [13058990, 13059172], [13059310, 13059366], [13059499, 13059627], [13059894, 13059973], [13060088, 13060222], [13063749, 13063863]]
NM_005053 [[13056627, 13056834], [13058661, 13058823], [13058990, 13059172], [13059310, 13059366], [13059499, 13059627], [13059894, 13059973], [13060088, 13060222], [13063502, 13063667], [13063749, 13064457]] [[13056762, 13056834], [13058661, 13058823], [13058990, 13059172], [13059310, 13059366], [13059499, 13059627], [13059894, 13059973], [13060088, 13060222], [13063502, 13063667], [13063749, 13063863]]
Promoter
Chrom Start End Description
chr19 13056663 13056697 CAGE_peak_1_at_RAD23A_5end
chr19 13059063 13059104 CAGE_peak_2_at_RAD23A_5end
chr19 13059130 13059148 CAGE_peak_4_at_RAD23A_5end
chr19 13059546 13059573 CAGE_peak_3_at_RAD23A_5end
chr19 13059576 13059596 CAGE_peak_5_at_RAD23A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I012955 12955815 12958117 2.03 [{'connected_gene': 'GADD45GIP1', 'score': 550.77}, {'connected_gene': 'MRI1', 'score': 18.98}, {'connected_gene': 'ZNF564', 'score': 17.06}, {'connected_gene': 'ZNF136', 'score': 15.42}, {'connected_gene': 'CCDC130', 'score': 13.64}, {'connected_gene': 'WDR83OS', 'score': 13.35}, {'connected_gene': 'ZNF442', 'score': 12.76}, {'connected_gene': 'ZNF709', 'score': 11.76}, {'connected_gene': 'ZNF625', 'score': 10.71}, {'connected_gene': 'ZNF799', 'score': 10.6}, {'connected_gene': 'ZNF788', 'score': 10.4}, {'connected_gene': 'ENSG00000242615', 'score': 10.34}, {'connected_gene': 'ZNF844', 'score': 10.02}, {'connected_gene': 'RPS6P25', 'score': 9.88}, {'connected_gene': 'TRIR', 'score': 9.83}, {'connected_gene': 'STX10', 'score': 4.83}, {'connected_gene': 'DNASE2', 'score': 4.47}, {'connected_gene': 'RAD23A', 'score': 0.39}]
chr19 GH19I013160 13160386 13174204 1.84 [{'connected_gene': 'CCDC130', 'score': 45.53}, {'connected_gene': 'ZNF799', 'score': 33.54}, {'connected_gene': 'ZNF44', 'score': 33.46}, {'connected_gene': 'ZNF791', 'score': 32.13}, {'connected_gene': 'TRIR', 'score': 31.74}, {'connected_gene': 'ZNF564', 'score': 28.78}, {'connected_gene': 'WDR83OS', 'score': 26.78}, {'connected_gene': 'ZNF442', 'score': 21.9}, {'connected_gene': 'TRMT1', 'score': 21.38}, {'connected_gene': 'DCAF15', 'score': 13.73}, {'connected_gene': 'MRI1', 'score': 12.74}, {'connected_gene': 'MAN2B1', 'score': 11.88}, {'connected_gene': 'RFX1', 'score': 11.15}, {'connected_gene': 'RPS6P25', 'score': 11.01}, {'connected_gene': 'LOC284454', 'score': 10.53}, {'connected_gene': 'LYL1', 'score': 9.37}, {'connected_gene': 'JUNB', 'score': 7.1}, {'connected_gene': 'RAD23A', 'score': 5.07}, {'connected_gene': 'HOOK2', 'score': 4.87}, {'connected_gene': 'ZNF709', 'score': 4.61}, {'connected_gene': 'STX10', 'score': 2.82}, {'connected_gene': 'NACC1', 'score': 1.84}, {'connected_gene': 'GADD45GIP1', 'score': 1.43}, {'connected_gene': 'BEST2', 'score': 1.19}, {'connected_gene': 'RPL12P42', 'score': 0.44}, {'connected_gene': 'GC19P013200', 'score': 0.29}]
chr19 GH19I012943 12943504 12950335 2.3 [{'connected_gene': 'RAD23A', 'score': 550.77}, {'connected_gene': 'CCDC130', 'score': 30.87}, {'connected_gene': 'ZNF564', 'score': 29.25}, {'connected_gene': 'WDR83OS', 'score': 24.59}, {'connected_gene': 'ZNF136', 'score': 23.47}, {'connected_gene': 'TRIR', 'score': 19.38}, {'connected_gene': 'MRI1', 'score': 18.98}, {'connected_gene': 'ZNF799', 'score': 18.79}, {'connected_gene': 'GCDH', 'score': 16.47}, {'connected_gene': 'ZNF44', 'score': 12.79}, {'connected_gene': 'ZNF442', 'score': 12.76}, {'connected_gene': 'ZNF878', 'score': 12.72}, {'connected_gene': 'ZNF433-AS1', 'score': 11.2}, {'connected_gene': 'MAN2B1', 'score': 10.58}, {'connected_gene': 'ZNF20', 'score': 10.22}, {'connected_gene': 'ZNF844', 'score': 10.02}, {'connected_gene': 'RPS6P25', 'score': 9.9}, {'connected_gene': 'TRMT1', 'score': 9.84}, {'connected_gene': 'ZNF763', 'score': 9.65}, {'connected_gene': 'HOOK2', 'score': 6.16}, {'connected_gene': 'CALR', 'score': 5.15}, {'connected_gene': 'ENSG00000267458', 'score': 0.77}, {'connected_gene': 'GADD45GIP1', 'score': 0.39}]
chr19 GH19I012951 12951569 12955472 1.18 [{'connected_gene': 'GCDH', 'score': 15.44}, {'connected_gene': 'HOOK2', 'score': 5.51}, {'connected_gene': 'DNASE2', 'score': 4.5}, {'connected_gene': 'GADD45GIP1', 'score': 0.77}, {'connected_gene': 'RAD23A', 'score': 0.44}]