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
ENST00000368089 [[160007256, 160012322], [160039811, 160040038]] [[160011182, 160012322]]
ENST00000509700 [[160010260, 160010391], [160011623, 160012085]] None
NM_002241 [[160007256, 160012322], [160039811, 160040051]] [[160011182, 160012322]]
Promoter
Chrom Start End Description
chr1 160009700 160009711 CAGE_peak_10_at_KCNJ10_5end
chr1 160011393 160011404 CAGE_peak_6_at_KCNJ10_5end
chr1 160039892 160039909 CAGE_peak_4_at_KCNJ10_5end
chr1 160039914 160039937 CAGE_peak_2_at_KCNJ10_5end
chr1 160039940 160039963 CAGE_peak_1_at_KCNJ10_5end
chr1 160039975 160039986 CAGE_peak_5_at_KCNJ10_5end
chr1 160040043 160040064 CAGE_peak_3_at_KCNJ10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I160075 160075471 160075540 0.2 [{'connected_gene': 'IGSF8', 'score': 11.38}, {'connected_gene': 'PIGM', 'score': 10.21}, {'connected_gene': 'KCNJ9', 'score': 0.77}, {'connected_gene': 'KCNJ10', 'score': 0.44}, {'connected_gene': 'ENSG00000225279', 'score': 0.39}]
chr1 GH01I160095 160095441 160103654 2.65 [{'connected_gene': 'IGSF8', 'score': 561.74}, {'connected_gene': 'ATP1A4', 'score': 15.64}, {'connected_gene': 'CASQ1', 'score': 11.06}, {'connected_gene': 'KCNJ10', 'score': 11.02}, {'connected_gene': 'PEA15', 'score': 10.44}, {'connected_gene': 'DCAF8', 'score': 10.43}, {'connected_gene': 'PEX19', 'score': 10.42}, {'connected_gene': 'PIGM', 'score': 9.93}, {'connected_gene': 'ENSG00000225279', 'score': 9.74}, {'connected_gene': 'ATP1A2', 'score': 2.2}, {'connected_gene': 'KCNJ9', 'score': 1.98}]
chr1 GH01I160030 160030424 160032926 2.03 [{'connected_gene': 'PIGM', 'score': 555.76}, {'connected_gene': 'ENSG00000260766', 'score': 8.15}, {'connected_gene': 'KCNJ10', 'score': 0.28}]
chr1 GH01I159936 159936201 159946713 2.66 [{'connected_gene': 'IGSF9', 'score': 559.99}, {'connected_gene': 'ATP1A4', 'score': 51.6}, {'connected_gene': 'KCNJ10', 'score': 12.41}, {'connected_gene': 'NHLH1', 'score': 6.2}, {'connected_gene': 'LINC01133', 'score': 6.08}, {'connected_gene': 'VSIG8', 'score': 5.95}, {'connected_gene': 'CFAP45', 'score': 4.42}, {'connected_gene': 'VANGL2', 'score': 2.07}, {'connected_gene': 'TAGLN2', 'score': 0.37}]
chr1 GH01I160139 160139335 160142648 0.31 [{'connected_gene': 'ATP1A4', 'score': 19.17}, {'connected_gene': 'CASQ1', 'score': 17.25}, {'connected_gene': 'ATP1A2', 'score': 11.87}, {'connected_gene': 'DCAF8', 'score': 10.87}, {'connected_gene': 'IGSF8', 'score': 10.64}, {'connected_gene': 'LOC100287049', 'score': 10.39}, {'connected_gene': 'KCNJ10', 'score': 9.87}, {'connected_gene': 'PIGM', 'score': 9.74}, {'connected_gene': 'PEA15', 'score': 6.12}, {'connected_gene': 'GC01M160128', 'score': 0.39}]
chr1 GH01I160006 160006431 160006540 0.62 [{'connected_gene': 'ATP1A4', 'score': 4.59}, {'connected_gene': 'RPL27AP2', 'score': 0.39}, {'connected_gene': 'FCRL6P1', 'score': 0.29}, {'connected_gene': 'KCNJ10', 'score': 0.21}]
chr1 GH01I160111 160111917 160118660 1.63 [{'connected_gene': 'ATP1A2', 'score': 560.0}, {'connected_gene': 'ATP1A4', 'score': 8.92}, {'connected_gene': 'IGSF8', 'score': 7.33}, {'connected_gene': 'KCNJ10', 'score': 4.75}, {'connected_gene': 'KCNJ9', 'score': 4.46}, {'connected_gene': 'PEA15', 'score': 2.38}]
chr1 GH01I160085 160085731 160087163 1.23 [{'connected_gene': 'ATP1A2', 'score': 15.59}, {'connected_gene': 'KCNJ9', 'score': 15.36}, {'connected_gene': 'PIGM', 'score': 10.43}, {'connected_gene': 'IGSF8', 'score': 8.21}, {'connected_gene': 'ATP1A4', 'score': 8.2}, {'connected_gene': 'KCNJ10', 'score': 4.63}, {'connected_gene': 'PEA15', 'score': 2.29}]
chr1 GH01I160070 160070071 160070856 1.95 [{'connected_gene': 'KCNJ10', 'score': 550.77}, {'connected_gene': 'IGSF8', 'score': 7.5}, {'connected_gene': 'ENSG00000225279', 'score': 0.44}]
chr1 GH01I160046 160046210 160047400 1.4 [{'connected_gene': 'KCNJ9', 'score': 11.29}, {'connected_gene': 'IGSF8', 'score': 10.42}, {'connected_gene': 'ENSG00000260766', 'score': 7.6}, {'connected_gene': 'PIGM', 'score': 0.39}, {'connected_gene': 'ENSG00000225279', 'score': 0.37}, {'connected_gene': 'KCNJ10', 'score': 0.34}]
chr1 GH01I160104 160104001 160105312 0.78 [{'connected_gene': 'KCNJ9', 'score': 11.31}, {'connected_gene': 'CASQ1', 'score': 11.07}, {'connected_gene': 'PEA15', 'score': 10.44}, {'connected_gene': 'DCAF8', 'score': 10.44}, {'connected_gene': 'PEX19', 'score': 10.43}, {'connected_gene': 'PIGM', 'score': 9.92}, {'connected_gene': 'ATP1A4', 'score': 9.82}, {'connected_gene': 'ENSG00000225279', 'score': 9.72}, {'connected_gene': 'KCNJ10', 'score': 9.61}, {'connected_gene': 'IGSF8', 'score': 7.84}, {'connected_gene': 'ATP1A2', 'score': 0.39}]
chr1 GH01I160374 160374401 160376843 1.51 [{'connected_gene': 'NCSTN', 'score': 31.56}, {'connected_gene': 'KCNJ10', 'score': 12.34}, {'connected_gene': 'COPA', 'score': 11.44}, {'connected_gene': 'RNU4-42P', 'score': 0.37}, {'connected_gene': 'GC01P160354', 'score': 0.34}, {'connected_gene': 'LOC105371466', 'score': 0.29}]
chr1 GH01I160003 160003152 160006002 0.38 [{'connected_gene': 'ENSG00000260766', 'score': 4.56}, {'connected_gene': 'RPL27AP2', 'score': 0.39}, {'connected_gene': 'FCRL6P1', 'score': 0.29}, {'connected_gene': 'KCNJ10', 'score': 0.2}]