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
ENST00000361640 [[19609051, 19609386], [19610489, 19610619], [19611179, 19611279], [19611511, 19611608], [19612381, 19612486], [19612678, 19612866], [19614989, 19615744]] [[19609224, 19609386], [19610489, 19610619], [19611179, 19611279], [19611511, 19611608], [19612381, 19612486], [19612678, 19612866], [19614989, 19615203]]
NM_012067 [[19609056, 19609386], [19610489, 19610619], [19611179, 19611279], [19611511, 19611608], [19612381, 19612486], [19612678, 19612866], [19614989, 19615280]] [[19609224, 19609386], [19610489, 19610619], [19611179, 19611279], [19611511, 19611608], [19612381, 19612486], [19612678, 19612866], [19614989, 19615203]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I019432 19432136 19471546 2.26 [{'connected_gene': 'CAPZB', 'score': 574.27}, {'connected_gene': 'EMC1', 'score': 14.45}, {'connected_gene': 'NBL1', 'score': 13.26}, {'connected_gene': 'RNU4-28P', 'score': 11.33}, {'connected_gene': 'HTR6', 'score': 10.82}, {'connected_gene': 'AKR7A2', 'score': 10.29}, {'connected_gene': 'OTUD3', 'score': 10.1}, {'connected_gene': 'AKR7A3', 'score': 8.85}, {'connected_gene': 'PQLC2', 'score': 6.11}, {'connected_gene': 'UBR4', 'score': 2.55}, {'connected_gene': 'PLA2G2E', 'score': 2.36}, {'connected_gene': 'PIR41915', 'score': 0.39}, {'connected_gene': 'RN7SL277P', 'score': 0.31}]
chr1 GH01I019481 19481596 19488476 2.22 [{'connected_gene': 'CAPZB', 'score': 550.77}, {'connected_gene': 'RNU4-28P', 'score': 12.22}, {'connected_gene': 'HTR6', 'score': 10.87}, {'connected_gene': 'NBL1', 'score': 10.53}, {'connected_gene': 'AKR7A3', 'score': 4.59}, {'connected_gene': 'PIR41915', 'score': 0.37}]
chr1 GH01I018711 18711167 18712860 0.49 [{'connected_gene': 'PAX7', 'score': 10.89}, {'connected_gene': 'AKR7A3', 'score': 4.65}, {'connected_gene': 'GC01P018698', 'score': 0.39}, {'connected_gene': 'GC01P018746', 'score': 0.29}]
chr1 GH01I019612 19612351 19614396 0.83 [{'connected_gene': 'NBL1', 'score': 6.23}, {'connected_gene': 'AKR7A3', 'score': 5.4}, {'connected_gene': 'AKR7A2', 'score': 4.92}, {'connected_gene': 'RPS14P3', 'score': 0.44}, {'connected_gene': 'MINOS1', 'score': 0.37}, {'connected_gene': 'MINOS1-NBL1', 'score': 0.37}]
chr1 GH01I019394 19394906 19396688 0.66 [{'connected_gene': 'NBL1', 'score': 11.08}, {'connected_gene': 'RNU4-28P', 'score': 10.86}, {'connected_gene': 'AKR7A2', 'score': 9.6}, {'connected_gene': 'PQLC2', 'score': 6.84}, {'connected_gene': 'AKR7A3', 'score': 5.66}, {'connected_gene': 'RN7SL277P', 'score': 0.31}, {'connected_gene': 'GC01P019361', 'score': 0.29}, {'connected_gene': 'CAPZB', 'score': 0.17}]
chr1 GH01I019764 19764505 19766790 1.3 [{'connected_gene': 'TMCO4', 'score': 20.52}, {'connected_gene': 'AKR7A3', 'score': 11.34}, {'connected_gene': 'RNF186', 'score': 10.86}, {'connected_gene': 'ENSG00000235434', 'score': 10.86}, {'connected_gene': 'PLA2G2A', 'score': 1.33}, {'connected_gene': 'GC01P019759', 'score': 0.44}]
chr1 GH01I019271 19271855 19275219 1.32 [{'connected_gene': 'AKR7L', 'score': 550.77}, {'connected_gene': 'RNU6-1099P', 'score': 12.25}, {'connected_gene': 'AKR7A2', 'score': 12.24}, {'connected_gene': 'PQLC2', 'score': 12.24}, {'connected_gene': 'TAS1R2', 'score': 9.48}, {'connected_gene': 'MRTO4', 'score': 8.36}, {'connected_gene': 'AKR7A3', 'score': 6.98}, {'connected_gene': 'ENSG00000272084', 'score': 4.51}, {'connected_gene': 'GC01M019261', 'score': 0.44}]
chr1 GH01I019241 19241347 19241516 0.76 [{'connected_gene': 'EMC1', 'score': 21.72}, {'connected_gene': 'RNU6-1099P', 'score': 11.45}, {'connected_gene': 'AKR7A2', 'score': 11.43}, {'connected_gene': 'PQLC2', 'score': 11.43}, {'connected_gene': 'AKR7A3', 'score': 4.84}, {'connected_gene': 'PIR41702', 'score': 0.44}, {'connected_gene': 'MRTO4', 'score': 0.39}]
chr1 GH01I019344 19344231 19344693 0.91 [{'connected_gene': 'AKR7A3', 'score': 12.64}, {'connected_gene': 'HTR6', 'score': 10.8}, {'connected_gene': 'GC01M019346', 'score': 0.77}, {'connected_gene': 'PIR41831', 'score': 0.39}, {'connected_gene': 'CAPZB', 'score': 0.11}]
chr1 GH01I020124 20124359 20125516 0.77 [{'connected_gene': 'AKR7A3', 'score': 4.77}, {'connected_gene': 'PLA2G2D', 'score': 0.44}, {'connected_gene': 'PLA2G2F', 'score': 0.39}]
chr1 GH01I019287 19287493 19288598 1.01 [{'connected_gene': 'AKR7A3', 'score': 553.21}, {'connected_gene': 'EMC1', 'score': 14.69}, {'connected_gene': 'MRTO4', 'score': 5.19}, {'connected_gene': 'ALDH4A1', 'score': 1.94}, {'connected_gene': 'AKR7L', 'score': 0.39}]
chr1 GH01I019288 19288600 19289001 1.31 [{'connected_gene': 'AKR7A3', 'score': 550.77}, {'connected_gene': 'EMC1', 'score': 6.0}, {'connected_gene': 'AKR7L', 'score': 0.39}]
chr1 GH01I018965 18965218 18966523 1.06 [{'connected_gene': 'AKR7A3', 'score': 8.7}, {'connected_gene': 'IFFO2', 'score': 7.39}, {'connected_gene': 'GC01P019006', 'score': 0.26}]
chr1 GH01I020248 20248612 20252192 0.78 [{'connected_gene': 'AKR7A3', 'score': 6.2}, {'connected_gene': 'LINC01757', 'score': 0.44}, {'connected_gene': 'LOC105376828', 'score': 0.34}]
chr1 GH01I020232 20232708 20232877 0.69 [{'connected_gene': 'AKR7A3', 'score': 5.24}, {'connected_gene': 'LINC01757', 'score': 0.39}, {'connected_gene': 'LOC105376826', 'score': 0.37}]
chr1 GH01I019567 19567207 19567356 0.2 [{'connected_gene': 'AKR7A3', 'score': 7.0}, {'connected_gene': 'GC01P019599', 'score': 0.31}, {'connected_gene': 'LOC105376817', 'score': 0.28}]
chr1 GH01I018946 18946715 18957645 2.77 [{'connected_gene': 'IFFO2', 'score': 571.92}, {'connected_gene': 'EMC1', 'score': 8.36}, {'connected_gene': 'ALDH4A1', 'score': 6.65}, {'connected_gene': 'AKR7A3', 'score': 6.15}, {'connected_gene': 'UBR4', 'score': 3.16}, {'connected_gene': 'AKR7A2', 'score': 1.55}, {'connected_gene': 'ENSG00000255275', 'score': 0.29}]
chr1 GH01I018936 18936189 18943706 1.55 [{'connected_gene': 'IFFO2', 'score': 13.17}, {'connected_gene': 'EMC1', 'score': 7.08}, {'connected_gene': 'AKR7A3', 'score': 5.28}, {'connected_gene': 'ENSG00000255275', 'score': 0.37}]
chr1 GH01I018917 18917037 18920023 0.52 [{'connected_gene': 'IFFO2', 'score': 19.49}, {'connected_gene': 'AKR7A3', 'score': 12.42}, {'connected_gene': 'EMC1', 'score': 5.93}, {'connected_gene': 'ENSG00000255275', 'score': 0.77}, {'connected_gene': 'ALDH4A1', 'score': 0.37}]
chr1 GH01I019389 19389839 19394075 1.25 [{'connected_gene': 'LOC105378614', 'score': 11.87}, {'connected_gene': 'MINOS1', 'score': 11.87}, {'connected_gene': 'CAPZB', 'score': 11.85}, {'connected_gene': 'RNU4-28P', 'score': 11.13}, {'connected_gene': 'PQLC2', 'score': 9.6}, {'connected_gene': 'AKR7A2', 'score': 9.55}, {'connected_gene': 'AKR7A3', 'score': 9.0}, {'connected_gene': 'RN7SL277P', 'score': 0.29}, {'connected_gene': 'GC01P019361', 'score': 0.29}]
chr1 GH01I019231 19231794 19233693 0.6 [{'connected_gene': 'PIR41702', 'score': 550.77}, {'connected_gene': 'EMC1', 'score': 40.65}, {'connected_gene': 'MRTO4', 'score': 7.97}, {'connected_gene': 'AKR7A3', 'score': 5.96}, {'connected_gene': 'LOC101927895', 'score': 0.34}]
chr1 GH01I019169 19169031 19170644 0.74 [{'connected_gene': 'GC01P019169', 'score': 550.77}, {'connected_gene': 'AKR7A3', 'score': 9.05}, {'connected_gene': 'GC01M019138', 'score': 0.37}, {'connected_gene': 'UBR4', 'score': 0.26}]