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
ENST00000555567 [[75408536, 75409436], [75412915, 75412978], [75413081, 75413111], [75415209, 75415286], [75416059, 75416256], [75420606, 75420649], [75421870, 75422487]] [[75409408, 75409436], [75412915, 75412978], [75413081, 75413111], [75415209, 75415286], [75416059, 75416256], [75420606, 75420649], [75421870, 75421945]]
ENST00000553716 [[75408543, 75409436], [75413081, 75413111], [75415209, 75415286], [75416059, 75416256], [75420606, 75420649], [75421870, 75422329]] [[75409408, 75409436], [75413081, 75413111], [75415209, 75415286], [75416059, 75416256], [75420606, 75420649], [75421870, 75421945]]
ENST00000238607 [[75408560, 75409436], [75412915, 75412978], [75413081, 75413111], [75415209, 75415286], [75416059, 75416256], [75420606, 75420646], [75421870, 75422280]] [[75409408, 75409436], [75412915, 75412978], [75413081, 75413111], [75415209, 75415286], [75416059, 75416256], [75420606, 75420646], [75421870, 75421945]]
ENST00000557748 [[75409196, 75409436], [75413081, 75413111], [75415209, 75415286], [75416059, 75416256], [75420606, 75420937]] None
ENST00000405431 [[75409408, 75409436], [75413081, 75413111], [75413435, 75413651], [75415209, 75415286], [75416059, 75416256], [75420606, 75420649], [75421870, 75421945]] [[75409408, 75409436], [75413081, 75413111], [75413435, 75413651], [75415209, 75415286], [75416059, 75416256], [75420606, 75420649], [75421870, 75421945]]
ENST00000555253 [[75411266, 75412978], [75413081, 75414918]] None
ENST00000556939 [[75414831, 75415286], [75416059, 75416256], [75420606, 75420649], [75421870, 75422300]] None
ENST00000555234 [[75415102, 75415286], [75416059, 75416256], [75421870, 75422300]] None
NM_002632 [[75408532, 75409436], [75412915, 75412978], [75413081, 75413111], [75415209, 75415286], [75416059, 75416256], [75420606, 75420649], [75421870, 75422467]] [[75409408, 75409436], [75412915, 75412978], [75413081, 75413111], [75415209, 75415286], [75416059, 75416256], [75420606, 75420649], [75421870, 75421945]]
NM_001207012 [[75408532, 75409436], [75413081, 75413111], [75415209, 75415286], [75416059, 75416256], [75420606, 75420649], [75421870, 75422467]] [[75409408, 75409436], [75413081, 75413111], [75415209, 75415286], [75416059, 75416256], [75420606, 75420649], [75421870, 75421945]]
NM_001293643 [[75408532, 75409436], [75412915, 75412978], [75413081, 75413111], [75415209, 75415286], [75416059, 75416256], [75420606, 75420646], [75421870, 75422467]] [[75409408, 75409436], [75412915, 75412978], [75413081, 75413111], [75415209, 75415286], [75416059, 75416256], [75420606, 75420646], [75421870, 75421945]]
Promoter
Chrom Start End Description
chr14 75422292 75422308 CAGE_peak_1_at_PGF_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I075062 75062866 75064983 1.95 [{'connected_gene': 'ACYP1', 'score': 555.95}, {'connected_gene': 'ZC2HC1C', 'score': 550.77}, {'connected_gene': 'EIF2B2', 'score': 26.38}, {'connected_gene': 'NEK9', 'score': 21.54}, {'connected_gene': 'FCF1', 'score': 11.72}, {'connected_gene': 'YLPM1', 'score': 10.78}, {'connected_gene': 'MLH3', 'score': 10.53}, {'connected_gene': 'PGF', 'score': 10.07}, {'connected_gene': 'GC14M075064', 'score': 0.44}]
chr14 GH14I075041 75041089 75042827 1.03 [{'connected_gene': 'ACYP1', 'score': 18.05}, {'connected_gene': 'ZC2HC1C', 'score': 11.4}, {'connected_gene': 'PGF', 'score': 10.4}, {'connected_gene': 'MLH3', 'score': 0.44}, {'connected_gene': 'RNU6-689P', 'score': 0.34}]
chr14 GH14I074017 74017732 74020332 2 [{'connected_gene': 'ENTPD5', 'score': 557.6}, {'connected_gene': 'BBOF1', 'score': 550.77}, {'connected_gene': 'LOC100506476', 'score': 38.77}, {'connected_gene': 'ZNF410', 'score': 15.38}, {'connected_gene': 'NUMB', 'score': 14.95}, {'connected_gene': 'ELMSAN1', 'score': 12.75}, {'connected_gene': 'RBM25', 'score': 11.11}, {'connected_gene': 'PGF', 'score': 10.15}, {'connected_gene': 'LIN52', 'score': 6.77}, {'connected_gene': 'RPL41P4', 'score': 0.37}]
chr14 GH14I074977 74977488 74985743 1.47 [{'connected_gene': 'EIF2B2', 'score': 35.62}, {'connected_gene': 'ACYP1', 'score': 15.74}, {'connected_gene': 'PGF', 'score': 12.1}, {'connected_gene': 'MLH3', 'score': 11.17}, {'connected_gene': 'ZC2HC1C', 'score': 11.14}, {'connected_gene': 'RPS6KL1', 'score': 11.0}, {'connected_gene': 'PROX2', 'score': 10.65}, {'connected_gene': 'RNU6-689P', 'score': 10.59}, {'connected_gene': 'DLST', 'score': 10.28}, {'connected_gene': 'GC14P074952', 'score': 0.31}]
chr14 GH14I074964 74963718 74963867 0.4 [{'connected_gene': 'EIF2B2', 'score': 11.44}, {'connected_gene': 'RPS6KL1', 'score': 11.33}, {'connected_gene': 'ZC2HC1C', 'score': 10.61}, {'connected_gene': 'ACYP1', 'score': 10.6}, {'connected_gene': 'RNU6-689P', 'score': 10.36}, {'connected_gene': 'MLH3', 'score': 10.22}, {'connected_gene': 'DLST', 'score': 9.93}, {'connected_gene': 'PGF', 'score': 0.44}, {'connected_gene': 'GC14P074952', 'score': 0.39}]
chr14 GH14I074962 74962001 74963170 0.66 [{'connected_gene': 'EIF2B2', 'score': 28.72}, {'connected_gene': 'RPS6KL1', 'score': 11.34}, {'connected_gene': 'ZC2HC1C', 'score': 10.61}, {'connected_gene': 'ACYP1', 'score': 10.6}, {'connected_gene': 'RNU6-689P', 'score': 10.36}, {'connected_gene': 'MLH3', 'score': 10.22}, {'connected_gene': 'DLST', 'score': 9.93}, {'connected_gene': 'PGF', 'score': 0.44}, {'connected_gene': 'GC14P074952', 'score': 0.39}]
chr14 GH14I074972 74972691 74976106 1.13 [{'connected_gene': 'EIF2B2', 'score': 31.39}, {'connected_gene': 'RPS6KL1', 'score': 11.01}, {'connected_gene': 'DLST', 'score': 10.93}, {'connected_gene': 'RNU6-689P', 'score': 10.77}, {'connected_gene': 'ZC2HC1C', 'score': 10.73}, {'connected_gene': 'ACYP1', 'score': 10.72}, {'connected_gene': 'MLH3', 'score': 10.69}, {'connected_gene': 'PROX2', 'score': 10.66}, {'connected_gene': 'PGF', 'score': 0.37}, {'connected_gene': 'GC14P074952', 'score': 0.34}]
chr14 GH14I074986 74986677 74989300 1.1 [{'connected_gene': 'EIF2B2', 'score': 19.95}, {'connected_gene': 'PGF', 'score': 12.09}, {'connected_gene': 'MLH3', 'score': 11.61}, {'connected_gene': 'ZC2HC1C', 'score': 11.58}, {'connected_gene': 'RNU6-689P', 'score': 11.29}, {'connected_gene': 'ACYP1', 'score': 11.05}, {'connected_gene': 'RPS6KL1', 'score': 10.99}, {'connected_gene': 'DLST', 'score': 10.15}]
chr14 GH14I075081 75081126 75082326 0.38 [{'connected_gene': 'EIF2B2', 'score': 29.23}, {'connected_gene': 'MLH3', 'score': 11.85}, {'connected_gene': 'RPS6KL1', 'score': 11.29}, {'connected_gene': 'PGF', 'score': 11.02}, {'connected_gene': 'PROX2', 'score': 10.99}, {'connected_gene': 'RNU6-689P', 'score': 10.58}, {'connected_gene': 'GC14P075088', 'score': 0.44}, {'connected_gene': 'GC14M075064', 'score': 0.39}, {'connected_gene': 'NEK9', 'score': 0.25}]
chr14 GH14I074963 74963922 74966387 1.07 [{'connected_gene': 'EIF2B2', 'score': 29.71}, {'connected_gene': 'MLH3', 'score': 20.39}, {'connected_gene': 'YLPM1', 'score': 13.48}, {'connected_gene': 'RPS6KL1', 'score': 11.38}, {'connected_gene': 'ZC2HC1C', 'score': 10.61}, {'connected_gene': 'ACYP1', 'score': 10.61}, {'connected_gene': 'RNU6-689P', 'score': 10.53}, {'connected_gene': 'DLST', 'score': 10.35}, {'connected_gene': 'PGF', 'score': 0.44}, {'connected_gene': 'GC14P074952', 'score': 0.39}]
chr14 GH14I074898 74898238 74899426 0.89 [{'connected_gene': 'RPS6KL1', 'score': 25.6}, {'connected_gene': 'PGF', 'score': 15.92}, {'connected_gene': 'PROX2', 'score': 12.7}, {'connected_gene': 'ZC2HC1C', 'score': 11.17}, {'connected_gene': 'ACYP1', 'score': 11.16}, {'connected_gene': 'MLH3', 'score': 10.75}, {'connected_gene': 'DLST', 'score': 8.21}, {'connected_gene': 'PIR36863', 'score': 0.39}]
chr14 GH14I074887 74887894 74889207 0.89 [{'connected_gene': 'RPS6KL1', 'score': 25.0}, {'connected_gene': 'PGF', 'score': 10.65}, {'connected_gene': 'RNU6-689P', 'score': 9.05}, {'connected_gene': 'DLST', 'score': 0.44}, {'connected_gene': 'PIR36863', 'score': 0.34}]
chr14 GH14I074893 74893398 74894548 0.49 [{'connected_gene': 'RPS6KL1', 'score': 25.57}, {'connected_gene': 'DLST', 'score': 16.21}, {'connected_gene': 'ACYP1', 'score': 11.17}, {'connected_gene': 'ZC2HC1C', 'score': 11.16}, {'connected_gene': 'PGF', 'score': 10.88}, {'connected_gene': 'MLH3', 'score': 10.75}, {'connected_gene': 'RNU6-689P', 'score': 9.27}, {'connected_gene': 'PIR36863', 'score': 0.39}]
chr14 GH14I074861 74861000 74861400 0.95 [{'connected_gene': 'ZC2HC1C', 'score': 10.82}, {'connected_gene': 'ACYP1', 'score': 10.82}, {'connected_gene': 'PGF', 'score': 10.45}, {'connected_gene': 'GC14M074853', 'score': 0.44}, {'connected_gene': 'LOC100131950', 'score': 0.39}, {'connected_gene': 'PROX2', 'score': 0.37}]
chr14 GH14I075120 75120401 75121353 0.78 [{'connected_gene': 'ZC2HC1C', 'score': 10.92}, {'connected_gene': 'MLH3', 'score': 10.9}, {'connected_gene': 'ACYP1', 'score': 10.8}, {'connected_gene': 'PGF', 'score': 10.39}, {'connected_gene': 'RPS6KL1', 'score': 10.27}, {'connected_gene': 'TMED10', 'score': 10.24}, {'connected_gene': 'RNU6-689P', 'score': 10.05}, {'connected_gene': 'JDP2', 'score': 9.91}, {'connected_gene': 'HIF1AP1', 'score': 0.77}, {'connected_gene': 'ENSG00000259138', 'score': 0.44}, {'connected_gene': 'NEK9', 'score': 0.44}, {'connected_gene': 'GC14P075088', 'score': 0.29}]
chr14 GH14I075098 75098358 75098946 0.2 [{'connected_gene': 'ZC2HC1C', 'score': 10.78}, {'connected_gene': 'MLH3', 'score': 10.73}, {'connected_gene': 'PGF', 'score': 10.29}, {'connected_gene': 'RPS6KL1', 'score': 10.26}, {'connected_gene': 'RNU6-689P', 'score': 10.06}, {'connected_gene': 'GC14P075088', 'score': 0.39}, {'connected_gene': 'HIF1AP1', 'score': 0.37}, {'connected_gene': 'NEK9', 'score': 0.31}]
chr14 GH14I074949 74949782 74957213 2.15 [{'connected_gene': 'PGF', 'score': 550.77}, {'connected_gene': 'GC14P074952', 'score': 550.77}, {'connected_gene': 'MLH3', 'score': 15.42}, {'connected_gene': 'ENSG00000258559', 'score': 12.24}, {'connected_gene': 'ENSG00000258646', 'score': 11.27}, {'connected_gene': 'EIF2B2', 'score': 8.58}]
chr14 GH14I074945 74945132 74947212 1.35 [{'connected_gene': 'FCF1', 'score': 20.55}, {'connected_gene': 'RPS6KL1', 'score': 13.03}, {'connected_gene': 'NEK9', 'score': 11.42}, {'connected_gene': 'ZC2HC1C', 'score': 11.24}, {'connected_gene': 'ACYP1', 'score': 11.24}, {'connected_gene': 'EIF2B2', 'score': 11.2}, {'connected_gene': 'RNU6-689P', 'score': 11.05}, {'connected_gene': 'DLST', 'score': 10.95}, {'connected_gene': 'MLH3', 'score': 10.78}, {'connected_gene': 'PGF', 'score': 0.44}, {'connected_gene': 'GC14P074952', 'score': 0.44}]
chr14 GH14I074610 74610684 74622483 2.71 [{'connected_gene': 'LTBP2', 'score': 552.2}, {'connected_gene': 'ENSG00000258976', 'score': 550.77}, {'connected_gene': 'YLPM1', 'score': 13.51}, {'connected_gene': 'ELMSAN1', 'score': 13.41}, {'connected_gene': 'ZNF410', 'score': 12.31}, {'connected_gene': 'FCF1', 'score': 10.34}, {'connected_gene': 'ENSG00000222604', 'score': 10.06}, {'connected_gene': 'MLH3', 'score': 10.03}, {'connected_gene': 'SYNDIG1L', 'score': 9.64}, {'connected_gene': 'FOS', 'score': 6.63}, {'connected_gene': 'AREL1', 'score': 6.14}, {'connected_gene': 'PGF', 'score': 5.21}, {'connected_gene': 'RPS6KL1', 'score': 5.08}, {'connected_gene': 'ENSG00000259005', 'score': 4.62}, {'connected_gene': 'EIF2B2', 'score': 4.11}, {'connected_gene': 'LOC101928352', 'score': 0.77}]
chr14 GH14I074913 74913618 74914999 0.83 [{'connected_gene': 'PROX2', 'score': 11.81}, {'connected_gene': 'DLST', 'score': 11.52}, {'connected_gene': 'PGF', 'score': 11.25}, {'connected_gene': 'EIF2B2', 'score': 11.18}, {'connected_gene': 'ZC2HC1C', 'score': 10.74}, {'connected_gene': 'ACYP1', 'score': 10.73}, {'connected_gene': 'MLH3', 'score': 10.64}, {'connected_gene': 'RNU6-689P', 'score': 10.22}, {'connected_gene': 'RPS6KL1', 'score': 6.7}, {'connected_gene': 'GC14M074923', 'score': 0.44}, {'connected_gene': 'PIR35524', 'score': 0.44}, {'connected_gene': 'PIR36863', 'score': 0.44}]
chr14 GH14I075080 75080774 75080785 0.2 [{'connected_gene': 'MLH3', 'score': 11.86}, {'connected_gene': 'EIF2B2', 'score': 11.36}, {'connected_gene': 'RPS6KL1', 'score': 11.29}, {'connected_gene': 'PGF', 'score': 11.02}, {'connected_gene': 'PROX2', 'score': 11.0}, {'connected_gene': 'RNU6-689P', 'score': 10.58}, {'connected_gene': 'GC14P075088', 'score': 0.44}, {'connected_gene': 'GC14M075064', 'score': 0.39}, {'connected_gene': 'NEK9', 'score': 0.25}]
chr14 GH14I074938 74938802 74943400 1.48 [{'connected_gene': 'DLST', 'score': 28.9}, {'connected_gene': 'ACYP1', 'score': 11.24}, {'connected_gene': 'ZC2HC1C', 'score': 11.24}, {'connected_gene': 'EIF2B2', 'score': 11.19}, {'connected_gene': 'RNU6-689P', 'score': 11.04}, {'connected_gene': 'MLH3', 'score': 10.77}, {'connected_gene': 'RPS6KL1', 'score': 6.09}, {'connected_gene': 'PGF', 'score': 0.39}, {'connected_gene': 'GC14P074952', 'score': 0.39}]
chr14 GH14I074915 74915439 74918527 0.72 [{'connected_gene': 'DLST', 'score': 40.27}, {'connected_gene': 'RPS6KL1', 'score': 19.84}, {'connected_gene': 'PGF', 'score': 16.21}, {'connected_gene': 'PROX2', 'score': 11.8}, {'connected_gene': 'ENSG00000258646', 'score': 11.2}, {'connected_gene': 'EIF2B2', 'score': 11.18}, {'connected_gene': 'ZC2HC1C', 'score': 10.74}, {'connected_gene': 'ACYP1', 'score': 10.73}, {'connected_gene': 'MLH3', 'score': 10.64}, {'connected_gene': 'RNU6-689P', 'score': 10.28}, {'connected_gene': 'GC14M074923', 'score': 0.44}, {'connected_gene': 'PIR35524', 'score': 0.44}, {'connected_gene': 'PIR36863', 'score': 0.44}]
chr14 GH14I074931 74931755 74935855 1.13 [{'connected_gene': 'DLST', 'score': 24.65}, {'connected_gene': 'RPS6KL1', 'score': 7.85}, {'connected_gene': 'PGF', 'score': 4.92}, {'connected_gene': 'GC14P074952', 'score': 0.37}]
chr14 GH14I074880 74880924 74887403 2.28 [{'connected_gene': 'DLST', 'score': 589.52}, {'connected_gene': 'ZNF410', 'score': 27.92}, {'connected_gene': 'RPS6KL1', 'score': 24.72}, {'connected_gene': 'NEK9', 'score': 20.46}, {'connected_gene': 'YLPM1', 'score': 19.32}, {'connected_gene': 'PGF', 'score': 15.58}, {'connected_gene': 'TTLL5', 'score': 12.46}, {'connected_gene': 'ENSG00000258559', 'score': 12.25}, {'connected_gene': 'FCF1', 'score': 11.6}, {'connected_gene': 'MLH3', 'score': 10.83}, {'connected_gene': 'RNU6-689P', 'score': 9.05}, {'connected_gene': 'PIR36863', 'score': 0.34}]
chr14 GH14I075010 75010789 75012479 0.72 [{'connected_gene': 'ENSG00000279594', 'score': 550.77}, {'connected_gene': 'EIF2B2', 'score': 25.49}, {'connected_gene': 'ACYP1', 'score': 17.57}, {'connected_gene': 'PGF', 'score': 10.98}, {'connected_gene': 'ZC2HC1C', 'score': 10.91}, {'connected_gene': 'MLH3', 'score': 10.9}, {'connected_gene': 'DLST', 'score': 10.39}, {'connected_gene': 'ENSG00000258646', 'score': 0.77}]
chr14 GH14I075088 75088678 75088847 0.65 [{'connected_gene': 'GC14P075088', 'score': 550.77}, {'connected_gene': 'ZC2HC1C', 'score': 11.57}, {'connected_gene': 'MLH3', 'score': 11.43}, {'connected_gene': 'RPS6KL1', 'score': 11.12}, {'connected_gene': 'EIF2B2', 'score': 10.76}, {'connected_gene': 'PGF', 'score': 10.73}, {'connected_gene': 'DLST', 'score': 10.73}, {'connected_gene': 'RNU6-689P', 'score': 10.27}, {'connected_gene': 'HIF1AP1', 'score': 0.31}, {'connected_gene': 'NEK9', 'score': 0.28}]
chr14 GH14I074907 74907401 74907800 0.31 [{'connected_gene': 'PIR36863', 'score': 550.77}, {'connected_gene': 'DLST', 'score': 12.32}, {'connected_gene': 'PROX2', 'score': 11.89}, {'connected_gene': 'PGF', 'score': 11.23}, {'connected_gene': 'EIF2B2', 'score': 11.16}, {'connected_gene': 'ZC2HC1C', 'score': 10.73}, {'connected_gene': 'ACYP1', 'score': 10.72}, {'connected_gene': 'MLH3', 'score': 10.7}, {'connected_gene': 'RNU6-689P', 'score': 10.21}, {'connected_gene': 'RPS6KL1', 'score': 0.37}]

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