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
ENST00000309562 [[48238343, 48239314]] [[48238361, 48239291]]
NM_001005470 [[48238361, 48239291]] [[48238361, 48239291]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I048153 48153536 48153971 0.2 [{'connected_gene': 'PTPRJ', 'score': 5.08}, {'connected_gene': 'PIR60737', 'score': 0.31}, {'connected_gene': 'OR4B1', 'score': 0.21}]
chr11 GH11I048165 48165569 48165718 0.2 [{'connected_gene': 'PTPRJ', 'score': 5.09}, {'connected_gene': 'PIR60737', 'score': 0.28}, {'connected_gene': 'OR4B1', 'score': 0.23}]
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 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 GH11I048194 48194029 48194178 0.31 [{'connected_gene': 'OR4B1', 'score': 0.34}, {'connected_gene': 'PIR60737', 'score': 0.2}]
chr11 GH11I048164 48164175 48165551 0.57 [{'connected_gene': 'C1QTNF4', 'score': 8.03}, {'connected_gene': 'ACP2', 'score': 6.37}, {'connected_gene': 'PTPRJ', 'score': 5.08}, {'connected_gene': 'PIR60737', 'score': 0.28}, {'connected_gene': 'OR4B1', 'score': 0.23}]
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}]
chr11 GH11I048134 48134592 48134918 0.2 [{'connected_gene': 'PIR60737', 'score': 0.44}, {'connected_gene': 'OR4B1', 'score': 0.18}, {'connected_gene': 'PTPRJ', 'score': 0.1}]
chr11 GH11I048169 48169401 48171400 0.72 [{'connected_gene': 'PIR60737', 'score': 0.26}, {'connected_gene': 'OR4B1', 'score': 0.25}, {'connected_gene': 'PTPRJ', 'score': 0.09}]
chr11 GH11I048172 48172801 48173200 0.66 [{'connected_gene': 'PIR60737', 'score': 0.26}, {'connected_gene': 'OR4B1', 'score': 0.26}]