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
ENST00000601975 [[51559462, 51560032], [51561794, 51561931], [51563001, 51563350], [51563689, 51563876], [51567854, 51568141]] [[51563296, 51563350], [51563689, 51563876], [51567854, 51567910]]
ENST00000376799 [[51559462, 51560032], [51561794, 51561931], [51563292, 51563350], [51563689, 51563876], [51567854, 51568141]] [[51563296, 51563350], [51563689, 51563876], [51567854, 51567910]]
ENST00000602090 [[51559462, 51560032], [51561794, 51561931], [51563292, 51563350], [51563689, 51563876], [51566842, 51567118], [51568272, 51568367]] [[51566888, 51567118], [51568272, 51568324]]
ENST00000441527 [[51559462, 51560032], [51561794, 51561931], [51563001, 51563350], [51563689, 51563876], [51566842, 51567118], [51568272, 51568367]] [[51566888, 51567118], [51568272, 51568324]]
ENST00000156476 [[51559462, 51560032], [51561794, 51561931], [51563292, 51563350], [51563689, 51563876], [51568272, 51568367]] [[51561928, 51561931], [51563292, 51563350], [51563689, 51563876], [51568272, 51568324]]
ENST00000595793 [[51559793, 51560032], [51561794, 51561931], [51563081, 51563350], [51563689, 51563876], [51568272, 51568367]] [[51559843, 51560032], [51561794, 51561931], [51563081, 51563350], [51563689, 51563876], [51568272, 51568324]]
ENST00000335422 [[51559843, 51560032], [51561794, 51561931], [51568272, 51568324]] [[51559843, 51560032], [51561794, 51561931], [51568272, 51568324]]
ENST00000595547 [[51559843, 51560032], [51561794, 51561931], [51563300, 51563350], [51563689, 51563876], [51568272, 51568324]] [[51559843, 51560032], [51561794, 51561931], [51563300, 51563350], [51563689, 51563876], [51568272, 51568324]]
ENST00000596955 [[51562899, 51563350], [51563689, 51563876], [51568272, 51568371]] [[51563046, 51563350], [51563689, 51563876], [51568272, 51568324]]
NR_145466 [[51558882, 51560032], [51561794, 51561931], [51563001, 51563350], [51563689, 51563876], [51567854, 51568141]] None
NR_145467 [[51558882, 51560032], [51561794, 51561931], [51563292, 51563350], [51563689, 51563876], [51567854, 51568141]] None
NR_145464 [[51558882, 51560032], [51561794, 51561931], [51563001, 51563350], [51563689, 51563876], [51566842, 51567118], [51568272, 51568367]] None
NR_145463 [[51558882, 51560032], [51561794, 51561931], [51563292, 51563350], [51563689, 51563876], [51568272, 51568367]] None
NM_001348177 [[51558882, 51560032], [51561794, 51561931], [51563300, 51563350], [51563689, 51563876], [51568272, 51568367]] [[51559843, 51560032], [51561794, 51561931], [51563300, 51563350], [51563689, 51563876], [51568272, 51568324]]
NM_001348178 [[51558882, 51560032], [51561794, 51561931], [51568272, 51568367]] [[51559843, 51560032], [51561794, 51561931], [51568272, 51568324]]
NM_015596 [[51559462, 51560032], [51561794, 51561931], [51563081, 51563350], [51563689, 51563876], [51568272, 51568367]] [[51559843, 51560032], [51561794, 51561931], [51563081, 51563350], [51563689, 51563876], [51568272, 51568324]]
Promoter
Chrom Start End Description
chr19 51568134 51568183 CAGE_peak_2_at_KLK13_5end
chr19 51568337 51568363 CAGE_peak_1_at_KLK13_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I051016 51016639 51018114 1.11 [{'connected_gene': 'ZNF175', 'score': 29.06}, {'connected_gene': 'ZNF615', 'score': 25.61}, {'connected_gene': 'KLK10', 'score': 23.63}, {'connected_gene': 'ZNF577', 'score': 19.9}, {'connected_gene': 'LRRC4B', 'score': 15.86}, {'connected_gene': 'POLD1', 'score': 13.51}, {'connected_gene': 'SPACA6', 'score': 13.46}, {'connected_gene': 'ZNF613', 'score': 12.25}, {'connected_gene': 'ZNF350', 'score': 11.4}, {'connected_gene': 'KLK13', 'score': 11.2}, {'connected_gene': 'KLK6', 'score': 11.08}, {'connected_gene': 'ZNF473', 'score': 10.98}, {'connected_gene': 'ENSG00000267808', 'score': 10.77}, {'connected_gene': 'SHANK1', 'score': 10.69}, {'connected_gene': 'ZNF649', 'score': 10.65}, {'connected_gene': 'KLK14', 'score': 10.37}, {'connected_gene': 'VRK3', 'score': 10.36}, {'connected_gene': 'ENSG00000268231', 'score': 10.26}, {'connected_gene': 'LINC01869', 'score': 9.46}, {'connected_gene': 'C19orf48', 'score': 9.46}, {'connected_gene': 'SNORD88C', 'score': 9.46}, {'connected_gene': 'ENSG00000268739', 'score': 0.77}]
chr19 GH19I051018 51018220 51020644 1.55 [{'connected_gene': 'KLK10', 'score': 574.42}, {'connected_gene': 'ZNF577', 'score': 28.71}, {'connected_gene': 'ZNF649', 'score': 25.8}, {'connected_gene': 'ZNF175', 'score': 22.55}, {'connected_gene': 'ENSG00000269483', 'score': 15.54}, {'connected_gene': 'KLK13', 'score': 11.2}, {'connected_gene': 'KLK6', 'score': 11.08}, {'connected_gene': 'ZNF350', 'score': 10.97}, {'connected_gene': 'ZNF615', 'score': 10.56}, {'connected_gene': 'KLK14', 'score': 10.37}, {'connected_gene': 'ZNF473', 'score': 10.06}, {'connected_gene': 'SNORD88C', 'score': 9.46}, {'connected_gene': 'LINC01869', 'score': 9.46}, {'connected_gene': 'C19orf48', 'score': 9.46}, {'connected_gene': 'ENSG00000267879', 'score': 5.38}, {'connected_gene': 'ENSG00000268739', 'score': 0.44}]
chr19 GH19I051070 51070637 51071618 0.72 [{'connected_gene': 'POLD1', 'score': 11.53}, {'connected_gene': 'CTU1', 'score': 11.4}, {'connected_gene': 'KLK10', 'score': 11.33}, {'connected_gene': 'KLK11', 'score': 10.9}, {'connected_gene': 'KLK2', 'score': 9.6}, {'connected_gene': 'KLK13', 'score': 0.44}, {'connected_gene': 'KLK14', 'score': 0.37}]
chr19 GH19I051064 51064601 51065982 1.5 [{'connected_gene': 'KLK13', 'score': 566.15}, {'connected_gene': 'KLK14', 'score': 7.51}]
chr19 GH19I051045 51045850 51047900 0.66 [{'connected_gene': 'ENSG00000267808', 'score': 5.47}, {'connected_gene': 'ENSG00000268390', 'score': 0.77}, {'connected_gene': 'KLK13', 'score': 0.37}]

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