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
ENST00000515837 [[61159158, 61160137], [61160702, 61160804], [61161355, 61161448], [61165245, 61165447], [61165741, 61166320]] [[61160103, 61160137], [61160702, 61160804], [61161355, 61161448], [61165245, 61165447], [61165741, 61165748]]
ENST00000334888 [[61159831, 61160137], [61160702, 61160804], [61161355, 61161448], [61165245, 61165447], [61165732, 61166335]] [[61160103, 61160137], [61160702, 61160804], [61161355, 61161448], [61165245, 61165447], [61165732, 61165748]]
ENST00000398979 [[61159864, 61160151], [61160702, 61160804], [61161355, 61161448], [61165245, 61165447], [61165741, 61165965]] [[61161402, 61161448], [61165245, 61165447], [61165741, 61165748]]
ENST00000544795 [[61160101, 61160151], [61160702, 61160804], [61161355, 61161448], [61165199, 61165447]] None
ENST00000541473 [[61160103, 61160151], [61160702, 61160804], [61161355, 61161773]] None
NM_001173991 [[61159831, 61160137], [61160702, 61160804], [61161355, 61161448], [61165245, 61165446], [61165731, 61166335]] [[61160103, 61160137], [61160702, 61160804], [61161355, 61161448], [61165245, 61165446], [61165731, 61165748]]
NM_001173990 [[61159831, 61160137], [61160702, 61160804], [61161355, 61161448], [61165245, 61165447], [61165741, 61166335]] [[61160103, 61160137], [61160702, 61160804], [61161355, 61161448], [61165245, 61165447], [61165741, 61165748]]
NM_001330285 [[61159831, 61160151], [61160702, 61160804], [61161355, 61161448], [61165245, 61165447], [61165741, 61166335]] [[61161402, 61161448], [61165245, 61165447], [61165741, 61165748]]
NM_016499 [[61159864, 61160151], [61160702, 61160804], [61161355, 61161448], [61165245, 61165446], [61165731, 61166335]] [[61161402, 61161448], [61165245, 61165446], [61165731, 61165748]]
Promoter
Chrom Start End Description
chr11 61159840 61159902 CAGE_peak_3_at_TMEM216_5end
chr11 61160049 61160092 CAGE_peak_1_at_TMEM216_5end
chr11 61160093 61160114 CAGE_peak_2_at_TMEM216_5end
chr11 61160115 61160124 CAGE_peak_4_at_TMEM216_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I061608 61608500 61610490 0.89 [{'connected_gene': 'SYT7', 'score': 11.7}, {'connected_gene': 'DAGLA', 'score': 10.75}, {'connected_gene': 'TMEM216', 'score': 9.96}, {'connected_gene': 'RPLP0P2', 'score': 0.44}, {'connected_gene': 'LOC101927495', 'score': 0.34}]
chr11 GH11I061580 61580323 61582138 2.04 [{'connected_gene': 'SYT7', 'score': 550.44}, {'connected_gene': 'TMEM132A', 'score': 10.49}, {'connected_gene': 'TMEM216', 'score': 4.58}, {'connected_gene': 'LOC105369331', 'score': 0.44}, {'connected_gene': 'ENSG00000256443', 'score': 0.28}]
chr11 GH11I061428 61428286 61431575 2.26 [{'connected_gene': 'CPSF7', 'score': 575.2}, {'connected_gene': 'SDHAF2', 'score': 557.13}, {'connected_gene': 'ENSG00000256591', 'score': 550.77}, {'connected_gene': 'TMEM216', 'score': 25.13}, {'connected_gene': 'TMEM138', 'score': 16.23}, {'connected_gene': 'RN7SL23P', 'score': 15.23}, {'connected_gene': 'VPS37C', 'score': 11.45}, {'connected_gene': 'TMEM109', 'score': 10.91}, {'connected_gene': 'DDB1', 'score': 10.37}, {'connected_gene': 'TKFC', 'score': 10.35}]
chr11 GH11I062041 62041386 62049469 1.27 [{'connected_gene': 'CSKMT', 'score': 86.38}, {'connected_gene': 'CPSF7', 'score': 81.91}, {'connected_gene': 'SNHG1', 'score': 78.64}, {'connected_gene': 'GANAB', 'score': 63.72}, {'connected_gene': 'NXF1', 'score': 59.2}, {'connected_gene': 'LOC105369332', 'score': 58.24}, {'connected_gene': 'TMEM138', 'score': 54.15}, {'connected_gene': 'TUT1', 'score': 53.67}, {'connected_gene': 'MTA2', 'score': 46.62}, {'connected_gene': 'INTS5', 'score': 44.98}, {'connected_gene': 'EML3', 'score': 41.73}, {'connected_gene': 'STX5', 'score': 41.7}, {'connected_gene': 'RN7SL23P', 'score': 34.15}, {'connected_gene': 'TAF6L', 'score': 31.74}, {'connected_gene': 'ENSG00000267811', 'score': 24.14}, {'connected_gene': 'WDR74', 'score': 21.39}, {'connected_gene': 'VPS37C', 'score': 20.51}, {'connected_gene': 'LBHD1', 'score': 14.59}, {'connected_gene': 'LRRN4CL', 'score': 11.94}, {'connected_gene': 'ZBTB3', 'score': 11.01}, {'connected_gene': 'UBXN1', 'score': 10.92}, {'connected_gene': 'UQCC3', 'score': 10.78}, {'connected_gene': 'TMEM216', 'score': 10.69}, {'connected_gene': 'TMEM179B', 'score': 10.28}, {'connected_gene': 'AHNAK', 'score': 10.11}, {'connected_gene': 'ENSG00000269176', 'score': 9.76}, {'connected_gene': 'GNG3', 'score': 9.69}, {'connected_gene': 'BEST1', 'score': 9.25}, {'connected_gene': 'RAB3IL1', 'score': 6.94}, {'connected_gene': 'SCGB2A2', 'score': 5.85}, {'connected_gene': 'INCENP', 'score': 5.22}, {'connected_gene': 'GC11P062053', 'score': 0.44}, {'connected_gene': 'RPS2P37', 'score': 0.29}]
chr11 GH11I061355 61355601 61364150 2.48 [{'connected_gene': 'TMEM138', 'score': 577.07}, {'connected_gene': 'CYB561A3', 'score': 550.77}, {'connected_gene': 'CPSF7', 'score': 31.52}, {'connected_gene': 'PRPF19', 'score': 13.88}, {'connected_gene': 'TMEM216', 'score': 13.0}, {'connected_gene': 'RN7SL23P', 'score': 12.96}, {'connected_gene': 'SDHAF2', 'score': 12.86}, {'connected_gene': 'VPS37C', 'score': 11.01}, {'connected_gene': 'TMEM109', 'score': 9.91}, {'connected_gene': 'ENSG00000279246', 'score': 0.44}]
chr11 GH11I061194 61194761 61197412 0.31 [{'connected_gene': 'TMEM216', 'score': 11.03}, {'connected_gene': 'CD6', 'score': 10.86}, {'connected_gene': 'TKFC', 'score': 10.25}, {'connected_gene': 'DDB1', 'score': 10.24}, {'connected_gene': 'PGA3', 'score': 0.44}, {'connected_gene': 'GC11P061168', 'score': 0.31}]
chr11 GH11I061444 61444893 61449798 1.03 [{'connected_gene': 'TMEM216', 'score': 13.61}, {'connected_gene': 'SYT7', 'score': 10.49}, {'connected_gene': 'DDB1', 'score': 10.41}, {'connected_gene': 'TKFC', 'score': 10.4}, {'connected_gene': 'SDHAF2', 'score': 7.21}, {'connected_gene': 'GC11P061443', 'score': 0.77}, {'connected_gene': 'RN7SL23P', 'score': 0.77}, {'connected_gene': 'ENSG00000256591', 'score': 0.37}, {'connected_gene': 'PPP1R32', 'score': 0.29}]
chr11 GH11I061435 61435392 61436258 0.65 [{'connected_gene': 'TMEM216', 'score': 24.41}, {'connected_gene': 'MYRF', 'score': 10.15}, {'connected_gene': 'DKFZP434K028', 'score': 10.14}, {'connected_gene': 'SDHAF2', 'score': 6.84}, {'connected_gene': 'GC11P061443', 'score': 0.44}, {'connected_gene': 'ENSG00000256591', 'score': 0.44}]
chr11 GH11I061344 61344407 61350500 0.98 [{'connected_gene': 'TMEM216', 'score': 6.18}, {'connected_gene': 'SDHAF2', 'score': 5.32}, {'connected_gene': 'CYB561A3', 'score': 5.26}, {'connected_gene': 'LOC101927495', 'score': 4.5}, {'connected_gene': 'DDB1', 'score': 0.77}, {'connected_gene': 'ENSG00000279246', 'score': 0.77}, {'connected_gene': 'TKFC', 'score': 0.39}]
chr11 GH11I061452 61452582 61455289 0.31 [{'connected_gene': 'TMEM216', 'score': 11.46}, {'connected_gene': 'SDHAF2', 'score': 7.1}, {'connected_gene': 'RN7SL23P', 'score': 0.44}, {'connected_gene': 'GC11P061443', 'score': 0.39}, {'connected_gene': 'ENSG00000256591', 'score': 0.34}, {'connected_gene': 'PPP1R32', 'score': 0.31}]
chr11 GH11I061327 61327302 61330563 0.38 [{'connected_gene': 'TMEM216', 'score': 11.1}, {'connected_gene': 'CYB561A3', 'score': 5.16}, {'connected_gene': 'PPP1R32', 'score': 4.27}, {'connected_gene': 'TKFC', 'score': 0.77}, {'connected_gene': 'DDB1', 'score': 0.39}, {'connected_gene': 'PIR45270', 'score': 0.31}]
chr11 GH11I061410 61410727 61411968 0.31 [{'connected_gene': 'TMEM216', 'score': 13.69}, {'connected_gene': 'DDB1', 'score': 10.9}, {'connected_gene': 'TKFC', 'score': 10.88}, {'connected_gene': 'PIR50742', 'score': 0.44}, {'connected_gene': 'PIR40905', 'score': 0.39}, {'connected_gene': 'CPSF7', 'score': 0.37}]
chr11 GH11I061417 61417032 61419417 1 [{'connected_gene': 'TMEM216', 'score': 23.77}, {'connected_gene': 'DDB1', 'score': 11.24}, {'connected_gene': 'TKFC', 'score': 11.22}, {'connected_gene': 'MYRF', 'score': 9.36}, {'connected_gene': 'DKFZP434K028', 'score': 9.36}, {'connected_gene': 'SDHAF2', 'score': 7.47}, {'connected_gene': 'PIR40905', 'score': 0.77}, {'connected_gene': 'PIR50742', 'score': 0.39}, {'connected_gene': 'CPSF7', 'score': 0.39}]
chr11 GH11I061365 61365687 61371384 1.37 [{'connected_gene': 'TMEM216', 'score': 24.16}, {'connected_gene': 'DDB1', 'score': 12.45}, {'connected_gene': 'TKFC', 'score': 12.41}, {'connected_gene': 'GC11P061375', 'score': 0.44}, {'connected_gene': 'TMEM138', 'score': 0.44}, {'connected_gene': 'CYB561A3', 'score': 0.44}]
chr11 GH11I061391 61391001 61394018 2.19 [{'connected_gene': 'TMEM216', 'score': 564.56}, {'connected_gene': 'DDB1', 'score': 12.15}, {'connected_gene': 'TKFC', 'score': 12.12}, {'connected_gene': 'GC11P061399', 'score': 0.44}, {'connected_gene': 'PIR41666', 'score': 0.44}]
chr11 GH11I061507 61507806 61515843 1.67 [{'connected_gene': 'LRRC10B', 'score': 550.77}, {'connected_gene': 'SYT7', 'score': 11.41}, {'connected_gene': 'TMEM216', 'score': 10.34}, {'connected_gene': 'DDB1', 'score': 9.41}, {'connected_gene': 'TKFC', 'score': 9.4}, {'connected_gene': 'MIR4488', 'score': 0.77}, {'connected_gene': 'ENSG00000279878', 'score': 0.39}]
chr11 GH11I061330 61330929 61336958 2.28 [{'connected_gene': 'TKFC', 'score': 550.77}, {'connected_gene': 'DDB1', 'score': 550.44}, {'connected_gene': 'CPSF7', 'score': 16.63}, {'connected_gene': 'TMEM138', 'score': 14.16}, {'connected_gene': 'RN7SL23P', 'score': 11.9}, {'connected_gene': 'TMEM216', 'score': 11.11}, {'connected_gene': 'VPS37C', 'score': 10.33}, {'connected_gene': 'CYB561A3', 'score': 5.17}, {'connected_gene': 'MS4A14', 'score': 4.53}]
chr11 GH11I061279 61279708 61281018 0.31 [{'connected_gene': 'TKFC', 'score': 11.14}, {'connected_gene': 'DDB1', 'score': 11.11}, {'connected_gene': 'TMEM216', 'score': 10.61}, {'connected_gene': 'VWCE', 'score': 0.37}, {'connected_gene': 'PGA5', 'score': 0.28}]
chr11 GH11I061281 61281201 61281400 0.46 [{'connected_gene': 'TKFC', 'score': 11.14}, {'connected_gene': 'DDB1', 'score': 11.11}, {'connected_gene': 'TMEM216', 'score': 10.61}, {'connected_gene': 'VWCE', 'score': 0.39}, {'connected_gene': 'PGA5', 'score': 0.26}]
chr11 GH11I061282 61281414 61282335 0.9 [{'connected_gene': 'TKFC', 'score': 11.14}, {'connected_gene': 'DDB1', 'score': 11.11}, {'connected_gene': 'TMEM216', 'score': 10.62}, {'connected_gene': 'VWCE', 'score': 0.39}, {'connected_gene': 'PGA5', 'score': 0.26}]
chr11 GH11I061343 61343627 61344041 0.51 [{'connected_gene': 'DDB1', 'score': 550.77}, {'connected_gene': 'TMEM216', 'score': 12.9}, {'connected_gene': 'ENSG00000279246', 'score': 0.44}, {'connected_gene': 'TKFC', 'score': 0.39}]
chr11 GH11I061377 61377459 61380348 1.19 [{'connected_gene': 'DDB1', 'score': 12.5}, {'connected_gene': 'TKFC', 'score': 12.47}, {'connected_gene': 'DAGLA', 'score': 7.53}, {'connected_gene': 'CYB561A3', 'score': 7.23}, {'connected_gene': 'SDHAF2', 'score': 6.08}, {'connected_gene': 'VPS37C', 'score': 3.46}, {'connected_gene': 'CPSF7', 'score': 3.35}, {'connected_gene': 'SLC15A3', 'score': 3.05}, {'connected_gene': 'TMEM138', 'score': 1.44}, {'connected_gene': 'GC11P061375', 'score': 0.77}, {'connected_gene': 'TMEM216', 'score': 0.39}]
chr11 GH11I061270 61270589 61270801 0.74 [{'connected_gene': 'DDB1', 'score': 12.1}, {'connected_gene': 'TKFC', 'score': 11.8}, {'connected_gene': 'TMEM216', 'score': 10.58}, {'connected_gene': 'RNU6-933P', 'score': 10.29}, {'connected_gene': 'VWCE', 'score': 0.34}, {'connected_gene': 'PGA5', 'score': 0.31}]
chr11 GH11I061385 61385001 61386000 1.01 [{'connected_gene': 'DDB1', 'score': 11.96}, {'connected_gene': 'TKFC', 'score': 11.93}, {'connected_gene': 'GC11P061375', 'score': 0.44}, {'connected_gene': 'TMEM216', 'score': 0.44}]
chr11 GH11I061442 61442038 61443381 0.31 [{'connected_gene': 'RN7SL23P', 'score': 550.77}, {'connected_gene': 'GC11P061443', 'score': 550.77}, {'connected_gene': 'TMEM216', 'score': 11.58}, {'connected_gene': 'SDHAF2', 'score': 7.24}, {'connected_gene': 'ENSG00000256591', 'score': 0.39}]
chr11 GH11I060851 60851320 60853729 0.8 [{'connected_gene': 'GC11P060851', 'score': 550.77}, {'connected_gene': 'ENSG00000256813', 'score': 550.77}, {'connected_gene': 'PIR48769', 'score': 550.77}, {'connected_gene': 'TMEM216', 'score': 11.62}, {'connected_gene': 'CPSF7', 'score': 11.01}, {'connected_gene': 'PRPF19', 'score': 7.44}, {'connected_gene': 'SLC15A3', 'score': 5.55}, {'connected_gene': 'MS4A2', 'score': 4.27}, {'connected_gene': 'PTGDR2', 'score': 0.77}]
chr11 GH11I061425 61425513 61426609 0.2 [{'connected_gene': 'ENSG00000279632', 'score': 550.77}, {'connected_gene': 'TMEM216', 'score': 11.64}, {'connected_gene': 'DDB1', 'score': 10.82}, {'connected_gene': 'TKFC', 'score': 10.31}, {'connected_gene': 'CPSF7', 'score': 0.77}, {'connected_gene': 'PIR40905', 'score': 0.77}]

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