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
ENST00000393094 [[107879458, 107880098], [107904527, 107904637], [107916996, 107917096], [107920616, 107920793], [107923386, 107923528], [107925373, 107925519], [107925601, 107925682], [107940822, 107940916], [107943058, 107943189], [107944116, 107944224], [107948902, 107948967], [107959253, 107959386], [107960218, 107960350], [107965117, 107965241], [107965538, 107965714], [107966256, 107966418], [107968362, 107968481], [107969132, 107969256], [107974916, 107978503]] [[107880074, 107880098], [107904527, 107904637], [107916996, 107917096], [107920616, 107920793], [107923386, 107923528], [107925373, 107925519], [107925601, 107925682], [107940822, 107940916], [107943058, 107943189], [107944116, 107944224], [107948902, 107948967], [107959253, 107959386], [107960218, 107960350], [107965117, 107965241], [107965538, 107965714], [107966256, 107966418], [107968362, 107968481], [107969132, 107969256], [107974916, 107975111]]
ENST00000532064 [[107879645, 107880098], [107904527, 107904637], [107920616, 107920793], [107923386, 107923528], [107925373, 107925519], [107925601, 107925682]] [[107880074, 107880098], [107904527, 107904637], [107920616, 107920626]]
ENST00000526303 [[107879681, 107880098], [107904527, 107904637], [107916996, 107917220]] None
ENST00000531427 [[107879985, 107880098], [107904527, 107904637], [107916996, 107917096], [107920616, 107920793], [107923386, 107923528], [107925373, 107925519], [107925601, 107925682], [107940822, 107940916], [107943058, 107943189], [107944116, 107944224], [107948902, 107948967], [107959253, 107959386], [107960218, 107960350], [107965117, 107965241], [107965538, 107965714], [107966256, 107966418], [107968362, 107968481], [107969132, 107969256], [107974916, 107975629], [107976933, 107977579]] [[107880074, 107880098], [107904527, 107904637], [107916996, 107917096], [107920616, 107920793], [107923386, 107923528], [107925373, 107925519], [107925601, 107925682], [107940822, 107940916], [107943058, 107943189], [107944116, 107944224], [107948902, 107948967], [107959253, 107959386], [107960218, 107960350], [107965117, 107965241], [107965538, 107965714], [107966256, 107966418], [107968362, 107968481], [107969132, 107969256], [107974916, 107975111]]
ENST00000532782 [[107916996, 107917096], [107923386, 107923528], [107925373, 107925519]] [[107916996, 107917096], [107923386, 107923528], [107925373, 107925519]]
ENST00000531843 [[107944116, 107944224], [107944526, 107944793]] None
NM_003478 [[107879407, 107880098], [107904527, 107904637], [107916996, 107917096], [107920616, 107920793], [107923386, 107923528], [107925373, 107925519], [107925601, 107925682], [107940822, 107940916], [107943058, 107943189], [107944116, 107944224], [107948902, 107948967], [107959253, 107959386], [107960218, 107960350], [107965117, 107965241], [107965538, 107965714], [107966256, 107966418], [107968362, 107968481], [107969132, 107969256], [107974916, 107978488]] [[107880074, 107880098], [107904527, 107904637], [107916996, 107917096], [107920616, 107920793], [107923386, 107923528], [107925373, 107925519], [107925601, 107925682], [107940822, 107940916], [107943058, 107943189], [107944116, 107944224], [107948902, 107948967], [107959253, 107959386], [107960218, 107960350], [107965117, 107965241], [107965538, 107965714], [107966256, 107966418], [107968362, 107968481], [107969132, 107969256], [107974916, 107975111]]
Promoter
Chrom Start End Description
chr11 107879607 107879702 CAGE_peak_1_at_CUL5_5end
chr11 107880037 107880074 CAGE_peak_2_at_CUL5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I107988 107988410 107988782 0.57 [{'connected_gene': 'CUL5', 'score': 12.13}, {'connected_gene': 'RAB39A', 'score': 0.21}]
chr11 GH11I107989 107988947 107989005 0.27 [{'connected_gene': 'CUL5', 'score': 0.37}, {'connected_gene': 'RAB39A', 'score': 0.21}]
chr11 GH11I107975 107975432 107975450 0.24 [{'connected_gene': 'CUL5', 'score': 0.29}, {'connected_gene': 'RAB39A', 'score': 0.25}]
chr11 GH11I108008 108008195 108011310 2.28 [{'connected_gene': 'CUL5', 'score': 550.77}, {'connected_gene': 'NPAT', 'score': 23.73}, {'connected_gene': 'CWF19L2', 'score': 13.15}, {'connected_gene': 'ALKBH8', 'score': 12.38}, {'connected_gene': 'DDX10', 'score': 11.58}, {'connected_gene': 'KDELC2', 'score': 10.92}, {'connected_gene': 'ACAT1', 'score': 9.73}, {'connected_gene': 'GC11P108085', 'score': 0.18}]
chr11 GH11I108035 108035815 108035964 0.31 [{'connected_gene': 'CUL5', 'score': 0.31}, {'connected_gene': 'GC11P108085', 'score': 0.25}]
chr11 GH11I108020 108020035 108020184 0.79 [{'connected_gene': 'CUL5', 'score': 0.39}, {'connected_gene': 'GC11P108085', 'score': 0.21}]
chr11 GH11I107991 107991797 107992313 0.2 [{'connected_gene': 'ACAT1', 'score': 11.47}, {'connected_gene': 'CUL5', 'score': 0.37}, {'connected_gene': 'RAB39A', 'score': 0.21}]
chr11 GH11I108025 108025601 108025800 0.52 [{'connected_gene': 'ACAT1', 'score': 10.46}, {'connected_gene': 'ENSG00000255467', 'score': 10.46}, {'connected_gene': 'CUL5', 'score': 0.37}, {'connected_gene': 'GC11P108085', 'score': 0.22}]
chr11 GH11I108092 108092986 108094077 0.56 [{'connected_gene': 'ACAT1', 'score': 21.49}, {'connected_gene': 'ENSG00000255467', 'score': 12.0}, {'connected_gene': 'ENSG00000200855', 'score': 0.44}, {'connected_gene': 'CUL5', 'score': 0.18}]
chr11 GH11I108069 108069614 108070603 0.49 [{'connected_gene': 'ACAT1', 'score': 24.24}, {'connected_gene': 'ENSG00000255467', 'score': 11.25}, {'connected_gene': 'GC11P108085', 'score': 0.39}, {'connected_gene': 'CUL5', 'score': 0.21}]
chr11 GH11I108013 108013401 108013600 0.38 [{'connected_gene': 'ACAT1', 'score': 5.62}, {'connected_gene': 'CUL5', 'score': 0.77}, {'connected_gene': 'GC11P108085', 'score': 0.19}]
chr11 GH11I107948 107948097 107948905 0.31 [{'connected_gene': 'ACAT1', 'score': 4.24}, {'connected_gene': 'RAB39A', 'score': 0.34}, {'connected_gene': 'CUL5', 'score': 0.21}]
chr11 GH11I107999 107999915 108000064 0.62 [{'connected_gene': 'ACAT1', 'score': 10.66}, {'connected_gene': 'ENSG00000255467', 'score': 10.66}, {'connected_gene': 'DDX10', 'score': 10.5}, {'connected_gene': 'CUL5', 'score': 0.44}, {'connected_gene': 'RAB39A', 'score': 0.19}]
chr11 GH11I107957 107957032 107957800 0.9 [{'connected_gene': 'SLN', 'score': 4.36}, {'connected_gene': 'ELMOD1', 'score': 4.15}, {'connected_gene': 'RAB39A', 'score': 0.31}, {'connected_gene': 'CUL5', 'score': 0.23}]
chr11 GH11I107929 107929875 107930036 0.46 [{'connected_gene': 'RAB39A', 'score': 550.77}, {'connected_gene': 'SLC35F2', 'score': 550.77}, {'connected_gene': 'CUL5', 'score': 0.18}]
chr11 GH11I107927 107927601 107929601 1.96 [{'connected_gene': 'SLC35F2', 'score': 556.71}, {'connected_gene': 'RAB39A', 'score': 550.77}, {'connected_gene': 'NPAT', 'score': 34.06}, {'connected_gene': 'CWF19L2', 'score': 19.15}, {'connected_gene': 'CUL5', 'score': 10.34}, {'connected_gene': 'ALKBH8', 'score': 10.02}, {'connected_gene': 'DDX10', 'score': 9.91}, {'connected_gene': 'ASS1P13', 'score': 5.39}]