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
ENST00000445946 [[89618917, 89623194]] [[89621707, 89622244]]
NM_001126049 [[89618917, 89623194]] [[89621707, 89622244]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I086974 86974176 86975071 0.4 [{'connected_gene': 'SNCG', 'score': 6.58}, {'connected_gene': 'KLLN', 'score': 5.34}, {'connected_gene': 'AGAP11', 'score': 0.77}, {'connected_gene': 'ADIRF-AS1', 'score': 0.77}, {'connected_gene': 'ADIRF', 'score': 0.44}, {'connected_gene': 'BMS1P3', 'score': 0.37}, {'connected_gene': 'GC10P086949', 'score': 0.34}]
chr10 GH10I088061 88061802 88068399 1.59 [{'connected_gene': 'PTEN', 'score': 29.27}, {'connected_gene': 'KLLN', 'score': 19.14}, {'connected_gene': 'MINPP1', 'score': 5.4}, {'connected_gene': 'NUTM2D', 'score': 4.15}, {'connected_gene': 'MED6P1', 'score': 0.37}, {'connected_gene': 'GC10P088093', 'score': 0.31}, {'connected_gene': 'LOC105378415', 'score': 0.28}]
chr10 GH10I087860 87860244 87869229 2.33 [{'connected_gene': 'PTEN', 'score': 556.0}, {'connected_gene': 'KLLN', 'score': 550.77}, {'connected_gene': 'NUTM2A-AS1', 'score': 28.71}, {'connected_gene': 'FAM35A', 'score': 20.32}, {'connected_gene': 'RPL11P3', 'score': 20.05}, {'connected_gene': 'ADIRF-AS1', 'score': 9.74}, {'connected_gene': 'LIPJ', 'score': 4.31}, {'connected_gene': 'ENSG00000224745', 'score': 0.39}]
chr10 GH10I087889 87889243 87897912 0.38 [{'connected_gene': 'PTEN', 'score': 17.18}, {'connected_gene': 'KLLN', 'score': 11.97}, {'connected_gene': 'STAMBPL1', 'score': 4.75}, {'connected_gene': 'LIPJ', 'score': 4.07}, {'connected_gene': 'ENSG00000224745', 'score': 0.39}, {'connected_gene': 'RPL11P3', 'score': 0.23}]
chr10 GH10I088391 88391671 88392973 1.07 [{'connected_gene': 'PTEN', 'score': 11.86}, {'connected_gene': 'KLLN', 'score': 11.86}, {'connected_gene': 'ANKRD22', 'score': 5.0}, {'connected_gene': 'GC10P088387', 'score': 0.44}, {'connected_gene': 'GC10M088413', 'score': 0.29}, {'connected_gene': 'RNLS', 'score': 0.08}]
chr10 GH10I088115 88115514 88119199 1.45 [{'connected_gene': 'PTEN', 'score': 3.9}, {'connected_gene': 'KLLN', 'score': 1.16}, {'connected_gene': 'LOC105378416', 'score': 0.77}, {'connected_gene': 'LOC101929727', 'score': 0.77}]
chr10 GH10I088106 88106001 88107369 1.1 [{'connected_gene': 'PTEN', 'score': 19.66}, {'connected_gene': 'KLLN', 'score': 11.08}, {'connected_gene': 'LOC105378415', 'score': 0.77}, {'connected_gene': 'LOC101929727', 'score': 0.44}]
chr10 GH10I088107 88107462 88108867 1.47 [{'connected_gene': 'PTEN', 'score': 7.97}, {'connected_gene': 'KLLN', 'score': 4.27}, {'connected_gene': 'LOC105378415', 'score': 0.77}, {'connected_gene': 'LOC101929727', 'score': 0.44}]
chr10 GH10I088097 88097098 88097801 1.26 [{'connected_gene': 'PTEN', 'score': 5.4}, {'connected_gene': 'KLLN', 'score': 3.04}, {'connected_gene': 'GC10P088093', 'score': 0.77}, {'connected_gene': 'LOC105378415', 'score': 0.44}]
chr10 GH10I087915 87915342 87919426 0.94 [{'connected_gene': 'PTEN', 'score': 17.86}, {'connected_gene': 'KLLN', 'score': 12.67}, {'connected_gene': 'RPL11P3', 'score': 0.31}, {'connected_gene': 'ENSG00000224745', 'score': 0.28}]
chr10 GH10I087924 87924367 87925868 0.8 [{'connected_gene': 'PTEN', 'score': 11.76}, {'connected_gene': 'KLLN', 'score': 11.76}, {'connected_gene': 'RPL11P3', 'score': 0.34}, {'connected_gene': 'ENSG00000224745', 'score': 0.25}]
chr10 GH10I087926 87926601 87926800 0.4 [{'connected_gene': 'PTEN', 'score': 11.76}, {'connected_gene': 'KLLN', 'score': 11.76}, {'connected_gene': 'RPL11P3', 'score': 0.37}, {'connected_gene': 'ENSG00000224745', 'score': 0.25}]
chr10 GH10I087922 87922001 87922200 0.84 [{'connected_gene': 'PTEN', 'score': 11.77}, {'connected_gene': 'KLLN', 'score': 11.77}, {'connected_gene': 'RPL11P3', 'score': 0.34}, {'connected_gene': 'ENSG00000224745', 'score': 0.26}]
chr10 GH10I087869 87869323 87870682 0.52 [{'connected_gene': 'PTEN', 'score': 0.44}, {'connected_gene': 'KLLN', 'score': 0.44}, {'connected_gene': 'ENSG00000224745', 'score': 0.44}]
chr10 GH10I088103 88103680 88103870 0.47 [{'connected_gene': 'LOC105378415', 'score': 550.77}, {'connected_gene': 'PTEN', 'score': 22.6}, {'connected_gene': 'KLLN', 'score': 15.52}, {'connected_gene': 'GC10P088093', 'score': 0.39}]
chr10 GH10I087923 87923201 87923400 0.4 [{'connected_gene': 'KLLN', 'score': 11.77}, {'connected_gene': 'PTEN', 'score': 11.76}, {'connected_gene': 'RPL11P3', 'score': 0.34}, {'connected_gene': 'ENSG00000224745', 'score': 0.26}]
chr10 GH10I088383 88383384 88390829 1.58 [{'connected_gene': 'GC10P088387', 'score': 550.77}, {'connected_gene': 'PTEN', 'score': 11.86}, {'connected_gene': 'KLLN', 'score': 11.86}, {'connected_gene': 'LIPK', 'score': 3.85}, {'connected_gene': 'VN1R55P', 'score': 0.13}, {'connected_gene': 'RNLS', 'score': 0.08}]
chr10 GH10I087874 87874401 87874600 0.58 [{'connected_gene': 'ENSG00000224745', 'score': 0.77}, {'connected_gene': 'PTEN', 'score': 0.39}, {'connected_gene': 'KLLN', 'score': 0.39}]