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
ENST00000484532 [[6241328, 6241546], [6252989, 6253114], [6257711, 6257817]] [[6241527, 6241546], [6252989, 6253114], [6257711, 6257729]]
ENST00000234875 [[6245079, 6246876], [6252989, 6253114], [6257711, 6257816], [6259621, 6259672]] [[6246731, 6246876], [6252989, 6253114], [6257711, 6257816], [6259621, 6259633]]
ENST00000480661 [[6246634, 6246876], [6252989, 6253114], [6257711, 6259623]] None
ENST00000497965 [[6246674, 6246876], [6252989, 6253114], [6257711, 6257816], [6260548, 6260902]] [[6246731, 6246876], [6252989, 6253114], [6257711, 6257729]]
ENST00000471204 [[6246751, 6246876], [6252989, 6253114], [6257711, 6257816], [6268740, 6268799], [6269194, 6269304]] [[6246751, 6246876], [6252989, 6253114], [6257711, 6257729]]
ENST00000465387 [[6246782, 6246876], [6252989, 6253114], [6257711, 6257816], [6259429, 6259613]] [[6246782, 6246876], [6252989, 6253114], [6257711, 6257729]]
ENST00000462296 [[6252986, 6253114], [6257711, 6257816], [6260548, 6260787], [6263426, 6263554]] [[6252986, 6253114], [6257711, 6257729]]
ENST00000465335 [[6252989, 6253114], [6257711, 6257816], [6260548, 6260810], [6268740, 6268799], [6269194, 6269449]] [[6252989, 6253114], [6257711, 6257729]]
NM_000983 [[6245079, 6246876], [6252989, 6253114], [6257711, 6257816], [6259621, 6259679]] [[6246731, 6246876], [6252989, 6253114], [6257711, 6257816], [6259621, 6259633]]
Promoter
Chrom Start End Description
chr1 6259619 6259623 CAGE_peak_3_at_RPL22_5end
chr1 6259641 6259690 CAGE_peak_1_at_RPL22_5end
chr1 6259832 6259851 CAGE_peak_4_at_RPL22_5end
chr1 6260644 6260700 CAGE_peak_5_at_RPL22_5end
chr1 6260709 6260723 CAGE_peak_15_at_RPL22_5end
chr1 6260758 6260768 CAGE_peak_16_at_RPL22_5end
chr1 6260782 6260787 CAGE_peak_18_at_RPL22_5end
chr1 6260896 6260907 CAGE_peak_13_at_RPL22_5end
chr1 6260914 6260929 CAGE_peak_6_at_RPL22_5end
chr1 6260935 6260943 CAGE_peak_14_at_RPL22_5end
chr1 6269335 6269436 CAGE_peak_2_at_RPL22_5end
chr1 6269448 6269459 CAGE_peak_10_at_RPL22_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I006598 6598774 6605649 2.65 [{'connected_gene': 'KLHL21', 'score': 579.98}, {'connected_gene': 'PIR47122', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 40.05}, {'connected_gene': 'RPL22', 'score': 27.12}, {'connected_gene': 'ZBTB48', 'score': 14.33}, {'connected_gene': 'NOL9', 'score': 11.77}, {'connected_gene': 'PHF13', 'score': 10.33}, {'connected_gene': 'PIR44711', 'score': 0.44}]
chr1 GH01I006404 6404761 6404910 0.98 [{'connected_gene': 'THAP3', 'score': 131.34}, {'connected_gene': 'NOL9', 'score': 113.68}, {'connected_gene': 'RPL22', 'score': 38.11}, {'connected_gene': 'CAMTA1-DT', 'score': 29.32}, {'connected_gene': 'LOC102724450', 'score': 22.73}, {'connected_gene': 'PHF13', 'score': 21.95}, {'connected_gene': 'ZBTB48', 'score': 21.48}, {'connected_gene': 'CAMTA1', 'score': 19.37}, {'connected_gene': 'NPHP4', 'score': 19.31}, {'connected_gene': 'GC01M006398', 'score': 0.44}, {'connected_gene': 'HES2', 'score': 0.37}]
chr1 GH01I006184 6183182 6183888 0.68 [{'connected_gene': 'CHD5', 'score': 0.77}, {'connected_gene': 'GC01M006194', 'score': 0.39}, {'connected_gene': 'RPL22', 'score': 0.31}]
chr1 GH01I006183 6183901 6184050 0.57 [{'connected_gene': 'CHD5', 'score': 0.77}, {'connected_gene': 'GC01M006194', 'score': 0.39}, {'connected_gene': 'RPL22', 'score': 0.31}]
chr1 GH01I006181 6181262 6181801 0.64 [{'connected_gene': 'CHD5', 'score': 550.77}, {'connected_gene': 'GC01M006194', 'score': 0.37}, {'connected_gene': 'RPL22', 'score': 0.31}]
chr1 GH01I006185 6185281 6185410 0.43 [{'connected_gene': 'CHD5', 'score': 0.44}, {'connected_gene': 'GC01M006194', 'score': 0.39}, {'connected_gene': 'RPL22', 'score': 0.34}]
chr1 GH01I006058 6058503 6059710 0.96 [{'connected_gene': 'CHD5', 'score': 11.37}, {'connected_gene': 'RNF207', 'score': 10.21}, {'connected_gene': 'LOC102724450', 'score': 10.21}, {'connected_gene': 'RPL22', 'score': 10.21}, {'connected_gene': 'NPHP4', 'score': 4.65}, {'connected_gene': 'GC01M006038', 'score': 0.37}, {'connected_gene': 'KCNAB2', 'score': 0.2}, {'connected_gene': 'LOC105376687', 'score': 0.19}]
chr1 GH01I006069 6069534 6070762 0.56 [{'connected_gene': 'CHD5', 'score': 11.11}, {'connected_gene': 'RNF207', 'score': 10.01}, {'connected_gene': 'LOC102724450', 'score': 10.01}, {'connected_gene': 'RPL22', 'score': 10.01}, {'connected_gene': 'GC01M006038', 'score': 0.29}, {'connected_gene': 'LOC105376687', 'score': 0.21}, {'connected_gene': 'KCNAB2', 'score': 0.18}]
chr1 GH01I006426 6426027 6428556 0.85 [{'connected_gene': 'ESPN', 'score': 23.9}, {'connected_gene': 'RPL22', 'score': 10.7}, {'connected_gene': 'RNF207', 'score': 10.7}, {'connected_gene': 'LOC102724450', 'score': 10.7}, {'connected_gene': 'ACOT7', 'score': 6.25}, {'connected_gene': 'MIR4252', 'score': 0.77}]
chr1 GH01I006367 6367114 6369020 0.43 [{'connected_gene': 'ESPN', 'score': 21.97}, {'connected_gene': 'RPL22', 'score': 10.83}, {'connected_gene': 'RNF207', 'score': 10.82}, {'connected_gene': 'LOC102724450', 'score': 10.82}, {'connected_gene': 'ACOT7', 'score': 4.98}, {'connected_gene': 'ENSG00000271746', 'score': 0.31}, {'connected_gene': 'GC01P006262', 'score': 0.14}]
chr1 GH01I006422 6422737 6425891 1.62 [{'connected_gene': 'ESPN', 'score': 579.78}, {'connected_gene': 'HES2', 'score': 550.77}, {'connected_gene': 'PHF13', 'score': 14.15}, {'connected_gene': 'NOL9', 'score': 11.85}, {'connected_gene': 'RNF207', 'score': 10.7}, {'connected_gene': 'LOC102724450', 'score': 10.7}, {'connected_gene': 'RPL22', 'score': 10.7}, {'connected_gene': 'THAP3', 'score': 10.37}, {'connected_gene': 'ACOT7', 'score': 6.48}, {'connected_gene': 'GC01M006398', 'score': 0.34}]
chr1 GH01I006412 6412832 6417164 1.12 [{'connected_gene': 'ESPN', 'score': 26.49}, {'connected_gene': 'RNF207', 'score': 19.47}, {'connected_gene': 'LINC00337', 'score': 11.71}, {'connected_gene': 'ICMT', 'score': 11.71}, {'connected_gene': 'HES3', 'score': 11.71}, {'connected_gene': 'PLEKHG5', 'score': 11.13}, {'connected_gene': 'LOC102724450', 'score': 10.81}, {'connected_gene': 'RPL22', 'score': 10.81}, {'connected_gene': 'CAMTA1', 'score': 10.81}, {'connected_gene': 'CHD5', 'score': 10.31}, {'connected_gene': 'ACOT7', 'score': 5.7}, {'connected_gene': 'HES2', 'score': 0.44}, {'connected_gene': 'GC01M006398', 'score': 0.37}]
chr1 GH01I006208 6208607 6209838 1.34 [{'connected_gene': 'RPL22', 'score': 550.77}, {'connected_gene': 'RNF207', 'score': 12.8}, {'connected_gene': 'ICMT', 'score': 9.23}, {'connected_gene': 'LOC102724450', 'score': 0.77}]
chr1 GH01I006700 6700363 6702470 2.1 [{'connected_gene': 'DNAJC11', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 36.43}, {'connected_gene': 'ZBTB48', 'score': 30.38}, {'connected_gene': 'NOL9', 'score': 18.15}, {'connected_gene': 'RPL22', 'score': 11.01}, {'connected_gene': 'PHF13', 'score': 10.78}, {'connected_gene': 'KLHL21', 'score': 10.19}, {'connected_gene': 'GC01M006638', 'score': 0.21}]
chr1 GH01I006418 6418498 6421697 1.46 [{'connected_gene': 'HES2', 'score': 550.77}, {'connected_gene': 'ESPN', 'score': 25.65}, {'connected_gene': 'RNF207', 'score': 10.73}, {'connected_gene': 'LOC102724450', 'score': 10.73}, {'connected_gene': 'RPL22', 'score': 10.73}, {'connected_gene': 'ACOT7', 'score': 6.18}, {'connected_gene': 'GC01M006398', 'score': 0.34}]
chr1 GH01I006204 6204261 6207175 2.27 [{'connected_gene': 'RNF207', 'score': 568.55}, {'connected_gene': 'LOC102724450', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 28.89}, {'connected_gene': 'PHF13', 'score': 14.11}, {'connected_gene': 'ZBTB48', 'score': 13.02}, {'connected_gene': 'RPL22', 'score': 12.2}, {'connected_gene': 'NOL9', 'score': 11.78}]
chr1 GH01I006008 6008965 6010473 0.86 [{'connected_gene': 'RNF207', 'score': 9.81}, {'connected_gene': 'LOC102724450', 'score': 9.81}, {'connected_gene': 'RPL22', 'score': 9.81}, {'connected_gene': 'KCNAB2', 'score': 8.98}, {'connected_gene': 'NPHP4', 'score': 0.37}, {'connected_gene': 'GC01M006038', 'score': 0.31}]
chr1 GH01I006156 6156654 6158681 1.1 [{'connected_gene': 'RNF207', 'score': 11.24}, {'connected_gene': 'LOC102724450', 'score': 11.24}, {'connected_gene': 'RPL22', 'score': 11.23}, {'connected_gene': 'CHD5', 'score': 0.34}, {'connected_gene': 'LOC105376687', 'score': 0.31}]
chr1 GH01I006007 6007201 6007400 0.97 [{'connected_gene': 'RNF207', 'score': 9.81}, {'connected_gene': 'LOC102724450', 'score': 9.81}, {'connected_gene': 'RPL22', 'score': 9.81}, {'connected_gene': 'NPHP4', 'score': 0.39}, {'connected_gene': 'KCNAB2', 'score': 0.37}, {'connected_gene': 'GC01M006038', 'score': 0.29}]
chr1 GH01I006147 6147992 6149500 1.03 [{'connected_gene': 'RNF207', 'score': 11.22}, {'connected_gene': 'LOC102724450', 'score': 11.22}, {'connected_gene': 'RPL22', 'score': 11.2}, {'connected_gene': 'LOC105376687', 'score': 0.37}, {'connected_gene': 'CHD5', 'score': 0.29}]
chr1 GH01I006259 6259681 6264315 2.35 [{'connected_gene': 'GPR153', 'score': 572.89}, {'connected_gene': 'GC01P006262', 'score': 550.77}, {'connected_gene': 'ICMT', 'score': 18.67}, {'connected_gene': 'LINC00337', 'score': 12.7}, {'connected_gene': 'RPL22', 'score': 10.53}, {'connected_gene': 'RNF207', 'score': 10.52}, {'connected_gene': 'LOC102724450', 'score': 10.52}, {'connected_gene': 'CHD5', 'score': 10.52}, {'connected_gene': 'NOL9', 'score': 10.26}, {'connected_gene': 'THAP3', 'score': 1.99}, {'connected_gene': 'ACOT7', 'score': 0.12}, {'connected_gene': 'ENSG00000271746', 'score': 0.12}]
chr1 GH01I006186 6185901 6186010 0.67 [{'connected_gene': 'ZBTB48', 'score': 12.06}, {'connected_gene': 'CHD5', 'score': 0.44}, {'connected_gene': 'GC01M006194', 'score': 0.39}, {'connected_gene': 'RPL22', 'score': 0.34}]
chr1 GH01I005990 5990873 5995461 2.57 [{'connected_gene': 'NPHP4', 'score': 569.4}, {'connected_gene': 'KCNAB2', 'score': 557.84}, {'connected_gene': 'THAP3', 'score': 28.97}, {'connected_gene': 'TNFRSF25', 'score': 21.26}, {'connected_gene': 'PHF13', 'score': 21.1}, {'connected_gene': 'RPL22', 'score': 20.75}, {'connected_gene': 'ZBTB48', 'score': 19.93}, {'connected_gene': 'NOL9', 'score': 10.05}, {'connected_gene': 'CHD5', 'score': 3.38}, {'connected_gene': 'GC01M006038', 'score': 0.25}]
chr1 GH01I006223 6223973 6225851 0.63 [{'connected_gene': 'ICMT', 'score': 13.04}, {'connected_gene': 'CHD5', 'score': 11.32}, {'connected_gene': 'RPL22', 'score': 0.37}]
chr1 GH01I006222 6222047 6223678 0.51 [{'connected_gene': 'ICMT', 'score': 20.16}, {'connected_gene': 'HES3', 'score': 12.22}, {'connected_gene': 'CHD5', 'score': 10.97}, {'connected_gene': 'LINC00337', 'score': 6.4}, {'connected_gene': 'RPL22', 'score': 0.39}]
chr1 GH01I006218 6218986 6221891 0.92 [{'connected_gene': 'ICMT', 'score': 20.17}, {'connected_gene': 'HES3', 'score': 12.22}, {'connected_gene': 'CHD5', 'score': 10.97}, {'connected_gene': 'LINC00337', 'score': 9.89}, {'connected_gene': 'RNF207', 'score': 0.39}, {'connected_gene': 'RPL22', 'score': 0.39}]
chr1 GH01I006233 6233275 6236706 2.02 [{'connected_gene': 'ICMT', 'score': 568.99}, {'connected_gene': 'LINC00337', 'score': 562.66}, {'connected_gene': 'ZBTB48', 'score': 21.74}, {'connected_gene': 'RPL22', 'score': 11.28}, {'connected_gene': 'THAP3', 'score': 11.15}, {'connected_gene': 'NOL9', 'score': 10.08}, {'connected_gene': 'GPR153', 'score': 7.82}, {'connected_gene': 'RNF207', 'score': 5.4}]
chr1 GH01I006391 6391996 6394636 2.02 [{'connected_gene': 'ACOT7', 'score': 564.81}, {'connected_gene': 'ENSG00000271746', 'score': 550.77}, {'connected_gene': 'ESPN', 'score': 20.13}, {'connected_gene': 'ZBTB48', 'score': 11.42}, {'connected_gene': 'THAP3', 'score': 11.17}, {'connected_gene': 'RPL22', 'score': 11.05}, {'connected_gene': 'NOL9', 'score': 10.12}, {'connected_gene': 'GC01P006262', 'score': 0.12}]
chr1 GH01I006446 6445823 6452168 1.31 [{'connected_gene': 'ENSG00000231868', 'score': 550.77}, {'connected_gene': 'ESPN', 'score': 19.14}, {'connected_gene': 'PLEKHG5', 'score': 11.7}, {'connected_gene': 'RNF207', 'score': 10.57}, {'connected_gene': 'LOC102724450', 'score': 10.57}, {'connected_gene': 'RPL22', 'score': 10.57}, {'connected_gene': 'ACOT7', 'score': 7.62}, {'connected_gene': 'TNFRSF25', 'score': 0.37}]
chr1 GH01I006197 6197742 6200945 2.09 [{'connected_gene': 'GC01M006194', 'score': 550.77}, {'connected_gene': 'RPL22', 'score': 550.39}, {'connected_gene': 'PHF13', 'score': 31.47}, {'connected_gene': 'RNF207', 'score': 13.01}, {'connected_gene': 'NOL9', 'score': 11.79}, {'connected_gene': 'ZBTB48', 'score': 11.16}, {'connected_gene': 'THAP3', 'score': 10.33}]

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