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
ENST00000375980 [[15736390, 15736775], [15752366, 15752514], [15753645, 15753780], [15755088, 15756839]] [[15736467, 15736775], [15752366, 15752514], [15753645, 15753780], [15755088, 15755220]]
ENST00000445566 [[15736760, 15736775], [15752366, 15752514], [15753645, 15753780], [15754393, 15754505], [15755088, 15755577]] [[15736760, 15736775], [15752366, 15752514], [15753645, 15753780], [15754393, 15754505], [15755088, 15755216]]
NM_024329 [[15736390, 15736775], [15752366, 15752514], [15753645, 15753780], [15755088, 15756839]] [[15736467, 15736775], [15752366, 15752514], [15753645, 15753780], [15755088, 15755220]]
Promoter
Chrom Start End Description
chr1 15736067 15736078 CAGE_peak_23_at_EFHD2_5end
chr1 15736084 15736094 CAGE_peak_24_at_EFHD2_5end
chr1 15736115 15736135 CAGE_peak_3_at_EFHD2_5end
chr1 15736145 15736158 CAGE_peak_7_at_EFHD2_5end
chr1 15736162 15736182 CAGE_peak_5_at_EFHD2_5end
chr1 15736195 15736206 CAGE_peak_16_at_EFHD2_5end
chr1 15736359 15736463 CAGE_peak_1_at_EFHD2_5end
chr1 15755260 15755300 CAGE_peak_2_at_EFHD2_5end
chr1 15755309 15755321 CAGE_peak_11_at_EFHD2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I015615 15615671 15621054 2.55 [{'connected_gene': 'DDI2', 'score': 553.3}, {'connected_gene': 'CROCCP3', 'score': 24.77}, {'connected_gene': 'NBPF1', 'score': 19.78}, {'connected_gene': 'LINC01772', 'score': 18.92}, {'connected_gene': 'PLEKHM2', 'score': 11.19}, {'connected_gene': 'ZBTB17', 'score': 10.81}, {'connected_gene': 'AGMAT', 'score': 10.7}, {'connected_gene': 'SLC25A34', 'score': 10.26}, {'connected_gene': 'ENSG00000237938', 'score': 9.9}, {'connected_gene': 'EFHD2', 'score': 3.23}, {'connected_gene': 'SPEN', 'score': 2.44}, {'connected_gene': 'CASP9', 'score': 1.28}, {'connected_gene': 'PIR39170', 'score': 0.26}, {'connected_gene': 'GC01P015660', 'score': 0.26}]
chr1 GH01I015055 15055365 15058056 0.52 [{'connected_gene': 'EFHD2', 'score': 4.8}, {'connected_gene': 'GC01M015029', 'score': 0.34}, {'connected_gene': 'TMEM51-AS1', 'score': 0.15}]
chr1 GH01I015384 15384201 15385114 0.72 [{'connected_gene': 'EFHD2', 'score': 5.46}, {'connected_gene': 'GC01P015364', 'score': 0.37}, {'connected_gene': 'GC01P015399', 'score': 0.37}, {'connected_gene': 'FHAD1', 'score': 0.11}]
chr1 GH01I015406 15406765 15420523 2.74 [{'connected_gene': 'EFHD2', 'score': 573.46}, {'connected_gene': 'LOC101927441', 'score': 563.93}, {'connected_gene': 'SPEN', 'score': 18.09}, {'connected_gene': 'CTRC', 'score': 12.25}, {'connected_gene': 'LOC101927417', 'score': 11.8}, {'connected_gene': 'FHAD1', 'score': 11.69}, {'connected_gene': 'CASP9', 'score': 6.39}, {'connected_gene': 'PLEKHM2', 'score': 6.1}, {'connected_gene': 'ENSG00000224621', 'score': 5.52}, {'connected_gene': 'DDI2', 'score': 1.65}, {'connected_gene': 'TMEM51', 'score': 1.43}, {'connected_gene': 'GC01P015399', 'score': 0.39}, {'connected_gene': 'GC01M015414', 'score': 0.37}]
chr1 GH01I015386 15386201 15386800 0.46 [{'connected_gene': 'RPS16P1', 'score': 13.35}, {'connected_gene': 'ENSG00000237938', 'score': 10.79}, {'connected_gene': 'EFHD2', 'score': 5.21}, {'connected_gene': 'GC01P015399', 'score': 0.39}, {'connected_gene': 'GC01P015364', 'score': 0.34}, {'connected_gene': 'FHAD1', 'score': 0.11}]
chr1 GH01I015882 15882602 15888023 1.78 [{'connected_gene': 'HSPB7', 'score': 16.61}, {'connected_gene': 'SPEN', 'score': 15.19}, {'connected_gene': 'FLJ37453', 'score': 13.18}, {'connected_gene': 'CLCNKA', 'score': 10.12}, {'connected_gene': 'EIF1AXP1', 'score': 9.92}, {'connected_gene': 'SRARP', 'score': 8.44}, {'connected_gene': 'PLEKHM2', 'score': 8.39}, {'connected_gene': 'ZBTB17', 'score': 6.14}, {'connected_gene': 'EFHD2', 'score': 3.89}, {'connected_gene': 'GC01P015874', 'score': 0.39}, {'connected_gene': 'GC01M015910', 'score': 0.34}, {'connected_gene': 'GC01P015847', 'score': 0.28}]
chr1 GH01I015243 15243774 15243939 0.62 [{'connected_gene': 'PLEKHM2', 'score': 8.8}, {'connected_gene': 'EFHD2', 'score': 5.46}, {'connected_gene': 'TMEM51', 'score': 2.64}, {'connected_gene': 'CASP9', 'score': 1.95}, {'connected_gene': 'FHAD1', 'score': 0.44}, {'connected_gene': 'PIR39012', 'score': 0.26}]
chr1 GH01I015297 15297152 15297327 0.7 [{'connected_gene': 'PLEKHM2', 'score': 5.02}, {'connected_gene': 'EFHD2', 'score': 2.99}, {'connected_gene': 'TMEM51', 'score': 2.34}, {'connected_gene': 'PIR39012', 'score': 0.44}, {'connected_gene': 'ENSG00000236045', 'score': 0.28}, {'connected_gene': 'FHAD1', 'score': 0.21}]
chr1 GH01I015678 15678359 15686355 2.59 [{'connected_gene': 'PLEKHM2', 'score': 574.96}, {'connected_gene': 'ENSG00000271742', 'score': 550.77}, {'connected_gene': 'SPEN', 'score': 21.74}, {'connected_gene': 'CROCCP3', 'score': 18.97}, {'connected_gene': 'CASP9', 'score': 14.0}, {'connected_gene': 'SLC25A34', 'score': 13.75}, {'connected_gene': 'LINC01772', 'score': 13.51}, {'connected_gene': 'CROCCP2', 'score': 10.53}, {'connected_gene': 'ZBTB17', 'score': 10.36}, {'connected_gene': 'RPL22P3', 'score': 9.94}, {'connected_gene': 'AGMAT', 'score': 9.14}, {'connected_gene': 'EFHD2', 'score': 7.29}, {'connected_gene': 'TMEM82', 'score': 5.35}, {'connected_gene': 'FAM131C', 'score': 4.59}, {'connected_gene': 'FHAD1', 'score': 1.63}, {'connected_gene': 'PIR59281', 'score': 0.77}, {'connected_gene': 'PIR34126', 'score': 0.39}]
chr1 GH01I015258 15258757 15262599 1.7 [{'connected_gene': 'TMEM51-AS1', 'score': 23.32}, {'connected_gene': 'FHAD1', 'score': 14.71}, {'connected_gene': 'LOC101927417', 'score': 14.54}, {'connected_gene': 'PLEKHM2', 'score': 11.11}, {'connected_gene': 'SPEN', 'score': 10.32}, {'connected_gene': 'ENSG00000237301', 'score': 9.97}, {'connected_gene': 'TMEM51', 'score': 9.2}, {'connected_gene': 'EFHD2', 'score': 7.28}, {'connected_gene': 'CASP9', 'score': 2.41}, {'connected_gene': 'PIR39012', 'score': 0.31}]
chr1 GH01I015322 15322999 15325723 1.54 [{'connected_gene': 'FHAD1', 'score': 11.78}, {'connected_gene': 'CTRC', 'score': 11.76}, {'connected_gene': 'CASP9', 'score': 2.92}, {'connected_gene': 'EFHD2', 'score': 1.69}, {'connected_gene': 'PLEKHM2', 'score': 1.28}, {'connected_gene': 'ENSG00000236045', 'score': 0.39}, {'connected_gene': 'PIR39012', 'score': 0.28}]
chr1 GH01I015249 15249137 15249571 0.93 [{'connected_gene': 'FHAD1', 'score': 15.72}, {'connected_gene': 'LOC101927417', 'score': 14.36}, {'connected_gene': 'TMEM51', 'score': 6.03}, {'connected_gene': 'PLEKHM2', 'score': 2.62}, {'connected_gene': 'EFHD2', 'score': 1.74}, {'connected_gene': 'PIR39012', 'score': 0.28}]
chr1 GH01I015245 15245419 15247758 2.38 [{'connected_gene': 'FHAD1', 'score': 565.04}, {'connected_gene': 'LOC101927417', 'score': 14.36}, {'connected_gene': 'PLEKHM2', 'score': 10.02}, {'connected_gene': 'TMEM51', 'score': 7.02}, {'connected_gene': 'EFHD2', 'score': 5.5}, {'connected_gene': 'CASP9', 'score': 2.09}, {'connected_gene': 'PIR39012', 'score': 0.26}]
chr1 GH01I015402 15402687 15403535 0.58 [{'connected_gene': 'LOC101927441', 'score': 13.26}, {'connected_gene': 'GC01P015399', 'score': 0.77}, {'connected_gene': 'EFHD2', 'score': 0.44}]
chr1 GH01I015405 15404949 15406214 0.51 [{'connected_gene': 'LOC101927441', 'score': 12.26}, {'connected_gene': 'EFHD2', 'score': 0.77}, {'connected_gene': 'GC01P015399', 'score': 0.44}]
chr1 GH01I015428 15428914 15433949 1.28 [{'connected_gene': 'GC01M015414', 'score': 550.77}, {'connected_gene': 'EFHD2', 'score': 5.79}, {'connected_gene': 'CTRC', 'score': 0.44}]
chr1 GH01I015404 15404045 15404194 0.51 [{'connected_gene': 'GC01P015399', 'score': 0.77}, {'connected_gene': 'EFHD2', 'score': 0.44}, {'connected_gene': 'LOC101927441', 'score': 0.39}]
chr1 GH01I015829 15829201 15838800 1.79 [{'connected_gene': 'ENSG00000237938', 'score': 40.99}, {'connected_gene': 'ZBTB17', 'score': 33.97}, {'connected_gene': 'SPEN', 'score': 23.31}, {'connected_gene': 'ARHGEF19', 'score': 18.12}, {'connected_gene': 'CLCNKA', 'score': 15.1}, {'connected_gene': 'NECAP2', 'score': 14.98}, {'connected_gene': 'FLJ37453', 'score': 14.44}, {'connected_gene': 'HSPB7', 'score': 12.19}, {'connected_gene': 'RPS16P1', 'score': 11.92}, {'connected_gene': 'RPL22P3', 'score': 11.14}, {'connected_gene': 'EFHD2', 'score': 11.11}, {'connected_gene': 'SZRD1', 'score': 10.68}, {'connected_gene': 'SRARP', 'score': 7.26}, {'connected_gene': 'CLCNKB', 'score': 5.55}, {'connected_gene': 'CASP9', 'score': 4.43}, {'connected_gene': 'PLEKHM2', 'score': 2.79}, {'connected_gene': 'GC01P015847', 'score': 0.39}]
chr1 GH01I015290 15290400 15290747 0.79 [{'connected_gene': 'ENSG00000236045', 'score': 11.36}, {'connected_gene': 'FHAD1', 'score': 10.65}, {'connected_gene': 'LOC101927417', 'score': 10.36}, {'connected_gene': 'PLEKHM2', 'score': 6.62}, {'connected_gene': 'EFHD2', 'score': 4.14}, {'connected_gene': 'TMEM51', 'score': 3.07}, {'connected_gene': 'CASP9', 'score': 1.2}, {'connected_gene': 'PIR39012', 'score': 0.77}]
chr1 GH01I015400 15400274 15401517 0.74 [{'connected_gene': 'GC01P015399', 'score': 550.77}, {'connected_gene': 'LOC101927441', 'score': 11.91}, {'connected_gene': 'ENSG00000224621', 'score': 4.56}, {'connected_gene': 'EFHD2', 'score': 0.44}, {'connected_gene': 'FHAD1', 'score': 0.1}]
chr1 GH01I015421 15421056 15422108 1.19 [{'connected_gene': 'GC01M015414', 'score': 0.44}, {'connected_gene': 'LOC101927441', 'score': 0.44}, {'connected_gene': 'EFHD2', 'score': 0.39}]
chr1 GH01I015423 15422755 15428278 1.14 [{'connected_gene': 'GC01M015414', 'score': 0.44}, {'connected_gene': 'LOC101927441', 'score': 0.44}, {'connected_gene': 'EFHD2', 'score': 0.37}]
chr1 GH01I015422 15422289 15422671 0.2 [{'connected_gene': 'GC01M015414', 'score': 0.44}, {'connected_gene': 'LOC101927441', 'score': 0.44}, {'connected_gene': 'EFHD2', 'score': 0.39}]
chr1 GH01I015434 15434601 15435575 1.09 [{'connected_gene': 'ENSG00000236045', 'score': 11.4}, {'connected_gene': 'LOC101927417', 'score': 11.37}, {'connected_gene': 'FHAD1', 'score': 11.29}, {'connected_gene': 'EFHD2', 'score': 5.4}, {'connected_gene': 'GC01M015414', 'score': 0.77}, {'connected_gene': 'CTRC', 'score': 0.77}]

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