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
ENST00000466994 [[6265534, 6266161], [6266255, 6266362], [6266595, 6266786], [6267438, 6268367]] None
ENST00000484435 [[6266188, 6266362], [6266595, 6266786], [6267438, 6267624]] None
ENST00000377948 [[6266188, 6266362], [6266595, 6266786], [6267438, 6267571], [6268940, 6269085], [6269174, 6269256], [6269327, 6269403], [6269473, 6269599], [6269983, 6270030], [6270282, 6270355], [6270429, 6270498], [6271926, 6272113], [6272290, 6272476], [6272741, 6272793], [6273125, 6273243], [6278348, 6278429], [6279295, 6281351]] [[6269527, 6269599], [6269983, 6270030], [6270282, 6270355], [6270429, 6270498], [6271926, 6272100]]
ENST00000377939 [[6266235, 6266362], [6266595, 6266786], [6267438, 6267571], [6268940, 6269085], [6269174, 6269256], [6269327, 6269403], [6269473, 6269599], [6269983, 6270030], [6270282, 6270355], [6270429, 6270498], [6270929, 6270998], [6271080, 6271178], [6271926, 6272113], [6272290, 6272476], [6272741, 6272793], [6273125, 6273243], [6278348, 6278429], [6279295, 6281359]] [[6266595, 6266786], [6267438, 6267571], [6268940, 6269085], [6269174, 6269256], [6269327, 6269403], [6269473, 6269599], [6269983, 6270030], [6270282, 6270355], [6270429, 6270498], [6270929, 6270998], [6271080, 6271178], [6271926, 6272113], [6272290, 6272476], [6272741, 6272793], [6273125, 6273243], [6278348, 6278429], [6279295, 6279467]]
ENST00000485539 [[6268677, 6269085], [6269174, 6269256], [6269327, 6269599], [6269983, 6270030], [6270282, 6270355], [6270429, 6270960]] None
ENST00000496676 [[6268919, 6269085], [6269473, 6269599], [6269983, 6270030], [6270282, 6270355], [6270429, 6270498], [6271926, 6272113], [6272277, 6272476], [6272741, 6273243], [6278348, 6278429], [6279295, 6280865]] None
ENST00000463453 [[6270961, 6270998], [6271080, 6271178], [6271982, 6272113]] None
ENST00000496329 [[6270997, 6271178], [6271926, 6271976]] None
ENST00000492476 [[6271094, 6271178], [6271926, 6272113], [6272290, 6272476], [6272741, 6272896]] None
ENST00000483336 [[6272797, 6272963], [6273125, 6273243], [6278348, 6278429], [6279295, 6279403]] None
NM_207396 [[6266188, 6266362], [6266595, 6266786], [6267438, 6267571], [6268940, 6269085], [6269174, 6269256], [6269327, 6269403], [6269473, 6269599], [6269983, 6270030], [6270282, 6270355], [6270429, 6270498], [6270929, 6270998], [6271080, 6271178], [6271926, 6272113], [6272290, 6272476], [6272741, 6272793], [6273125, 6273243], [6278348, 6278429], [6279295, 6281359]] [[6266595, 6266786], [6267438, 6267571], [6268940, 6269085], [6269174, 6269256], [6269327, 6269403], [6269473, 6269599], [6269983, 6270030], [6270282, 6270355], [6270429, 6270498], [6270929, 6270998], [6271080, 6271178], [6271926, 6272113], [6272290, 6272476], [6272741, 6272793], [6273125, 6273243], [6278348, 6278429], [6279295, 6279467]]
Promoter
Chrom Start End Description
chr1 6266137 6266204 CAGE_peak_1_at_RNF207_5end
chr1 6266228 6266239 CAGE_peak_5_at_RNF207_5end
chr1 6268974 6268994 CAGE_peak_3_at_RNF207_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I006170 6170642 6172200 0.93 [{'connected_gene': 'CHD5', 'score': 21.31}, {'connected_gene': 'KCNAB2', 'score': 12.24}, {'connected_gene': 'RNF207', 'score': 9.96}, {'connected_gene': 'ICMT', 'score': 4.84}, {'connected_gene': 'PLEKHG5', 'score': 1.57}, {'connected_gene': 'LOC105376687', 'score': 0.28}]
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 GH01I006275 6275547 6277685 1.35 [{'connected_gene': 'ESPN', 'score': 12.58}, {'connected_gene': 'RNF207', 'score': 11.04}, {'connected_gene': 'GPR153', 'score': 2.04}, {'connected_gene': 'ZBTB48', 'score': 1.93}, {'connected_gene': 'PHF13', 'score': 1.38}, {'connected_gene': 'ACOT7', 'score': 1.28}, {'connected_gene': 'GC01P006262', 'score': 0.37}, {'connected_gene': 'ENSG00000271746', 'score': 0.13}]
chr1 GH01I006327 6327963 6332120 0.86 [{'connected_gene': 'ESPN', 'score': 19.71}, {'connected_gene': 'RNF207', 'score': 9.55}, {'connected_gene': 'GPR153', 'score': 5.94}, {'connected_gene': 'ACOT7', 'score': 5.67}, {'connected_gene': 'ENSG00000271746', 'score': 0.21}, {'connected_gene': 'GC01P006262', 'score': 0.2}]
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 GH01I006500 6500818 6502873 1.12 [{'connected_gene': 'PLEKHG5', 'score': 5.13}, {'connected_gene': 'RNF207', 'score': 4.43}, {'connected_gene': 'TNFRSF25', 'score': 0.28}]
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 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 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}]