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
ENST00000319988 [[48327774, 48328704]] [[48327774, 48328704]]
NM_001004725 [[48327774, 48328704]] [[48327774, 48328704]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I048141 48141782 48141955 0.28 [{'connected_gene': 'MYBPC3', 'score': 10.04}, {'connected_gene': 'FNBP4', 'score': 4.45}, {'connected_gene': 'OR4X2', 'score': 3.57}, {'connected_gene': 'OR4B1', 'score': 2.28}, {'connected_gene': 'OR4S1', 'score': 1.9}, {'connected_gene': 'PTPRJ', 'score': 1.63}, {'connected_gene': 'PIR60737', 'score': 0.39}]
chr11 GH11I048307 48307909 48308018 0.68 [{'connected_gene': 'OR4S1', 'score': 550.77}, {'connected_gene': 'PTPRJ', 'score': 4.34}, {'connected_gene': 'OR4C3', 'score': 0.37}]
chr11 GH11I048173 48172075 48172111 0.22 [{'connected_gene': 'OR4S1', 'score': 6.4}, {'connected_gene': 'OR4C3', 'score': 6.06}, {'connected_gene': 'OR4X2', 'score': 6.01}, {'connected_gene': 'OR4B1', 'score': 5.16}, {'connected_gene': 'OR4X1', 'score': 2.63}, {'connected_gene': 'PIR60737', 'score': 0.26}]
chr11 GH11I047869 47869310 47870298 1.03 [{'connected_gene': 'OR4C3', 'score': 6.33}, {'connected_gene': 'OR4B1', 'score': 6.22}, {'connected_gene': 'OR4S1', 'score': 6.22}, {'connected_gene': 'PTPRJ', 'score': 4.76}, {'connected_gene': 'OR4X2', 'score': 3.68}, {'connected_gene': 'NUP160', 'score': 0.34}, {'connected_gene': 'GC11M055361', 'score': 0.28}]
chr11 GH11I047912 47912253 47925411 1.74 [{'connected_gene': 'NUP160', 'score': 26.32}, {'connected_gene': 'KBTBD4', 'score': 17.88}, {'connected_gene': 'PTPRJ', 'score': 16.54}, {'connected_gene': 'FNBP4', 'score': 15.99}, {'connected_gene': 'C1QTNF4', 'score': 15.81}, {'connected_gene': 'MADD', 'score': 14.68}, {'connected_gene': 'ENSG00000270060', 'score': 11.88}, {'connected_gene': 'PTPRJ-AS1', 'score': 11.32}, {'connected_gene': 'DDB2', 'score': 11.3}, {'connected_gene': 'ARFGAP2', 'score': 11.11}, {'connected_gene': 'ENSG00000200090', 'score': 10.32}, {'connected_gene': 'MYBPC3', 'score': 10.15}, {'connected_gene': 'ACP2', 'score': 6.5}, {'connected_gene': 'PSMC3', 'score': 6.0}, {'connected_gene': 'ENSG00000256897', 'score': 5.47}, {'connected_gene': 'FAM180B', 'score': 5.05}, {'connected_gene': 'PACSIN3', 'score': 4.79}, {'connected_gene': 'OR4X1', 'score': 4.45}, {'connected_gene': 'OR4B1', 'score': 1.92}, {'connected_gene': 'OR4C3', 'score': 1.55}, {'connected_gene': 'OR4S1', 'score': 1.33}, {'connected_gene': 'LOC100287189', 'score': 0.39}, {'connected_gene': 'PIR55104', 'score': 0.28}]
chr11 GH11I048103 48103573 48110876 1.61 [{'connected_gene': 'NUP160', 'score': 16.36}, {'connected_gene': 'OR4S1', 'score': 12.76}, {'connected_gene': 'PTPRJ-AS1', 'score': 12.46}, {'connected_gene': 'PTPRJ', 'score': 11.66}, {'connected_gene': 'OR4B1', 'score': 11.25}, {'connected_gene': 'PACSIN3', 'score': 6.34}, {'connected_gene': 'ACP2', 'score': 6.3}, {'connected_gene': 'MADD', 'score': 5.51}, {'connected_gene': 'C1QTNF4', 'score': 5.01}, {'connected_gene': 'OR4X2', 'score': 4.43}, {'connected_gene': 'OR4C3', 'score': 2.77}, {'connected_gene': 'MIR3161', 'score': 0.39}, {'connected_gene': 'PIR60737', 'score': 0.34}]
chr11 GH11I048266 48266777 48266794 0.22 [{'connected_gene': 'OR4B1', 'score': 32.09}, {'connected_gene': 'OR4S1', 'score': 30.13}, {'connected_gene': 'OR4X2', 'score': 17.69}, {'connected_gene': 'OR4C3', 'score': 14.09}, {'connected_gene': 'OR4X1', 'score': 2.25}]
chr11 GH11I047850 47850085 47852036 0.84 [{'connected_gene': 'C1QTNF4', 'score': 15.14}, {'connected_gene': 'MTCH2', 'score': 9.83}, {'connected_gene': 'OR4S1', 'score': 3.9}, {'connected_gene': 'OR4B1', 'score': 3.36}, {'connected_gene': 'OR4X2', 'score': 2.77}, {'connected_gene': 'OR4C3', 'score': 2.04}, {'connected_gene': 'NUP160', 'score': 0.77}, {'connected_gene': 'GC11M055361', 'score': 0.23}]