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
ENST00000379800 [[37677397, 37679803]] [[37678379, 37679393]]
NM_145203 [[37677396, 37679801]] [[37678379, 37679393]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I037091 37091916 37092275 0.2 [{'connected_gene': 'SUPT20H', 'score': 11.63}, {'connected_gene': 'CSNK1A1L', 'score': 0.39}]
chr13 GH13I037085 37085289 37086606 0.2 [{'connected_gene': 'SUPT20H', 'score': 18.55}, {'connected_gene': 'CSNK1A1L', 'score': 0.37}]
chr13 GH13I037088 37088728 37088939 0.22 [{'connected_gene': 'SUPT20H', 'score': 3.96}, {'connected_gene': 'CSNK1A1L', 'score': 0.37}]
chr13 GH13I037090 37090801 37091200 0.2 [{'connected_gene': 'SUPT20H', 'score': 16.02}, {'connected_gene': 'CSNK1A1L', 'score': 0.39}]
chr13 GH13I037133 37133666 37136712 0.86 [{'connected_gene': 'SUPT20H', 'score': 7.35}, {'connected_gene': 'CSNK1A1L', 'score': 5.38}, {'connected_gene': 'ENSG00000274549', 'score': 0.77}]
chr13 GH13I037172 37172139 37174138 0.31 [{'connected_gene': 'CSNK1A1L', 'score': 9.95}, {'connected_gene': 'SUPT20H', 'score': 7.37}, {'connected_gene': 'RN7SKP1', 'score': 0.44}, {'connected_gene': 'GC13M037167', 'score': 0.44}, {'connected_gene': 'RPS12P24', 'score': 0.25}]
chr13 GH13I037105 37105633 37105692 0.61 [{'connected_gene': 'CSNK1A1L', 'score': 597.53}, {'connected_gene': 'SUPT20H', 'score': 0.25}]
chr13 GH13I037100 37100318 37102164 0.31 [{'connected_gene': 'CSNK1A1L', 'score': 23.02}, {'connected_gene': 'SUPT20H', 'score': 0.26}]
chr13 GH13I036978 36978971 36980045 0.2 [{'connected_gene': 'CSNK1A1L', 'score': 6.34}, {'connected_gene': 'PIR51208', 'score': 0.39}, {'connected_gene': 'ALG5', 'score': 0.34}, {'connected_gene': 'EIF4A1P5', 'score': 0.28}]
chr13 GH13I037149 37149365 37149709 0.23 [{'connected_gene': 'CSNK1A1L', 'score': 20.69}, {'connected_gene': 'EXOSC8', 'score': 4.43}, {'connected_gene': 'SUPT20H', 'score': 2.37}, {'connected_gene': 'ENSG00000279511', 'score': 0.77}, {'connected_gene': 'RN7SKP1', 'score': 0.37}, {'connected_gene': 'GC13M037167', 'score': 0.37}]
chr13 GH13I037229 37229953 37231323 0.2 [{'connected_gene': 'CSNK1A1L', 'score': 9.49}, {'connected_gene': 'LOC105377814', 'score': 0.77}, {'connected_gene': 'RPS12P24', 'score': 0.44}]
chr13 GH13I037175 37175603 37176710 0.4 [{'connected_gene': 'CSNK1A1L', 'score': 9.47}, {'connected_gene': 'RN7SKP1', 'score': 0.44}, {'connected_gene': 'GC13M037167', 'score': 0.44}, {'connected_gene': 'RPS12P24', 'score': 0.25}]
chr13 GH13I037215 37215697 37217723 0.38 [{'connected_gene': 'CSNK1A1L', 'score': 7.74}, {'connected_gene': 'RPS12P24', 'score': 0.77}, {'connected_gene': 'RN7SKP1', 'score': 0.23}, {'connected_gene': 'GC13M037167', 'score': 0.23}]
chr13 GH13I037209 37209463 37213294 0.38 [{'connected_gene': 'CSNK1A1L', 'score': 10.75}, {'connected_gene': 'RPS12P24', 'score': 0.44}, {'connected_gene': 'RN7SKP1', 'score': 0.26}, {'connected_gene': 'GC13M037167', 'score': 0.26}]
chr13 GH13I037197 37197869 37199106 0.43 [{'connected_gene': 'CSNK1A1L', 'score': 8.02}, {'connected_gene': 'RPS12P24', 'score': 0.34}, {'connected_gene': 'RN7SKP1', 'score': 0.29}, {'connected_gene': 'GC13M037167', 'score': 0.29}]
chr13 GH13I037107 37107587 37110026 0.56 [{'connected_gene': 'CSNK1A1L', 'score': 47.55}, {'connected_gene': 'ENSG00000274549', 'score': 0.29}]
chr13 GH13I036997 36997774 37002390 2.31 [{'connected_gene': 'EXOSC8', 'score': 572.94}, {'connected_gene': 'ALG5', 'score': 560.7}, {'connected_gene': 'SUPT20H', 'score': 40.33}, {'connected_gene': 'RFXAP', 'score': 27.66}, {'connected_gene': 'SPART-AS1', 'score': 12.17}, {'connected_gene': 'SMAD9', 'score': 9.94}, {'connected_gene': 'CSNK1A1L', 'score': 7.02}]
chr13 GH13I037126 37126618 37129211 0.95 [{'connected_gene': 'ENSG00000274549', 'score': 0.39}, {'connected_gene': 'CSNK1A1L', 'score': 0.34}]