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
ENST00000394900 [[61100681, 61100801], [61102091, 61102203], [61105412, 61105602], [61106537, 61106648], [61106725, 61106907], [61108907, 61108986], [61109294, 61109384], [61109932, 61109967], [61110045, 61110130], [61110226, 61110316], [61110813, 61110930], [61111327, 61111447], [61111607, 61111745], [61112731, 61112838], [61112933, 61113037], [61113183, 61113217], [61113328, 61113418], [61113822, 61116714]] [[61102200, 61102203], [61105412, 61105602], [61106537, 61106648], [61106725, 61106907], [61108907, 61108986], [61109294, 61109384], [61109932, 61109967], [61110045, 61110130], [61110226, 61110316], [61110813, 61110930], [61111327, 61111447], [61111607, 61111745], [61112731, 61112838], [61112933, 61113037], [61113183, 61113217], [61113328, 61113418], [61113822, 61113975]]
ENST00000531820 [[61100691, 61100784], [61101020, 61101407]] None
ENST00000530456 [[61100692, 61100801], [61102091, 61102203], [61103311, 61103409], [61105412, 61105602], [61106537, 61106617]] None
ENST00000532173 [[61100693, 61100801], [61101020, 61101122], [61102091, 61102203], [61105412, 61105602], [61106537, 61106648], [61106725, 61106907]] [[61102200, 61102203], [61105412, 61105602], [61106537, 61106648], [61106725, 61106907]]
ENST00000530057 [[61100702, 61100801], [61102091, 61102203], [61103311, 61103409], [61103675, 61103843], [61105412, 61105574]] None
ENST00000525170 [[61100711, 61100801], [61101020, 61101122], [61102091, 61102203], [61103311, 61103409], [61105412, 61105562]] None
ENST00000529121 [[61100715, 61100801], [61101020, 61102203], [61103311, 61103409], [61105412, 61105555]] None
ENST00000529620 [[61100743, 61100801], [61102091, 61102203], [61103675, 61103843], [61105412, 61105507]] None
ENST00000533393 [[61100751, 61100801], [61102091, 61102203], [61103675, 61103862], [61105412, 61105602], [61106537, 61106595]] None
ENST00000524968 [[61101813, 61102203], [61105412, 61105580]] [[61102200, 61102203], [61105412, 61105580]]
ENST00000529479 [[61105412, 61105602], [61106537, 61106648], [61106725, 61106907], [61108907, 61108986], [61109294, 61109384], [61109932, 61109967], [61110045, 61110130], [61110226, 61110316], [61110813, 61110930], [61111327, 61111447], [61111607, 61111745], [61112731, 61112838], [61112933, 61113037], [61113183, 61113217], [61113328, 61113418], [61113766, 61113975]] [[61105412, 61105602], [61106537, 61106648], [61106725, 61106907], [61108907, 61108986], [61109294, 61109384], [61109932, 61109967], [61110045, 61110130], [61110226, 61110316], [61110813, 61110930], [61111327, 61111447], [61111607, 61111745], [61112731, 61112838], [61112933, 61113037], [61113183, 61113217], [61113328, 61113418], [61113766, 61113796]]
ENST00000529092 [[61106589, 61106648], [61106725, 61106998]] None
ENST00000533853 [[61109146, 61109384], [61109932, 61110130], [61110226, 61110250]] None
ENST00000524953 [[61109794, 61110130], [61110226, 61110465]] None
ENST00000534134 [[61109872, 61109967], [61110045, 61110130], [61110226, 61110631]] None
ENST00000534370 [[61110681, 61110930], [61111327, 61111438]] None
ENST00000528061 [[61111087, 61111447], [61111607, 61111745], [61112731, 61112788]] None
ENST00000534084 [[61111392, 61111447], [61111607, 61111745], [61112731, 61112838], [61112933, 61113037], [61113183, 61113217], [61113328, 61113418], [61120331, 61120767]] [[61111392, 61111447], [61111607, 61111745], [61112731, 61112838], [61112933, 61113037], [61113183, 61113217], [61113328, 61113418], [61120331, 61120463]]
ENST00000525366 [[61112785, 61113037], [61113183, 61113217], [61113328, 61113418], [61113822, 61114362]] None
ENST00000524440 [[61112790, 61113037], [61113183, 61113432]] None
ENST00000530329 [[61112827, 61112838], [61112933, 61113037], [61113183, 61113217], [61113328, 61113662]] None
NM_015533 [[61100653, 61100801], [61102091, 61102203], [61105412, 61105602], [61106537, 61106648], [61106725, 61106907], [61108907, 61108986], [61109294, 61109384], [61109932, 61109967], [61110045, 61110130], [61110226, 61110316], [61110813, 61110930], [61111327, 61111447], [61111607, 61111745], [61112731, 61112838], [61112933, 61113037], [61113183, 61113217], [61113328, 61113418], [61113822, 61116231]] [[61102200, 61102203], [61105412, 61105602], [61106537, 61106648], [61106725, 61106907], [61108907, 61108986], [61109294, 61109384], [61109932, 61109967], [61110045, 61110130], [61110226, 61110316], [61110813, 61110930], [61111327, 61111447], [61111607, 61111745], [61112731, 61112838], [61112933, 61113037], [61113183, 61113217], [61113328, 61113418], [61113822, 61113975]]
Promoter
Chrom Start End Description
chr11 61100676 61100734 CAGE_peak_1_at_DAK_5end
chr11 61100735 61100754 CAGE_peak_3_at_DAK_5end
chr11 61102006 61102013 CAGE_peak_5_at_DAK_5end
chr11 61102033 61102048 CAGE_peak_2_at_DAK_5end
chr11 61112752 61112810 CAGE_peak_4_at_DAK_5end
chr11 61112928 61112943 CAGE_peak_8_at_DAK_5end
chr11 61112944 61112955 CAGE_peak_9_at_DAK_5end
chr11 61112998 61113003 CAGE_peak_15_at_DAK_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I061173 61173569 61173718 0.74 [{'connected_gene': 'CD6', 'score': 10.97}, {'connected_gene': 'SLC15A3', 'score': 10.83}, {'connected_gene': 'TMEM132A', 'score': 10.82}, {'connected_gene': 'CD5', 'score': 10.68}, {'connected_gene': 'TKFC', 'score': 9.54}, {'connected_gene': 'DDB1', 'score': 9.54}, {'connected_gene': 'GC11P061168', 'score': 0.44}, {'connected_gene': 'PGA3', 'score': 0.31}]
chr11 GH11I061174 61174289 61174478 0.69 [{'connected_gene': 'CD6', 'score': 10.97}, {'connected_gene': 'SLC15A3', 'score': 10.83}, {'connected_gene': 'TMEM132A', 'score': 10.82}, {'connected_gene': 'CD5', 'score': 10.68}, {'connected_gene': 'TKFC', 'score': 9.54}, {'connected_gene': 'DDB1', 'score': 9.54}, {'connected_gene': 'GC11P061168', 'score': 0.44}, {'connected_gene': 'PGA3', 'score': 0.31}]
chr11 GH11I061171 61171565 61173085 0.89 [{'connected_gene': 'CD5', 'score': 25.0}, {'connected_gene': 'CD6', 'score': 10.97}, {'connected_gene': 'RNU6-933P', 'score': 10.92}, {'connected_gene': 'SLC15A3', 'score': 10.83}, {'connected_gene': 'TMEM132A', 'score': 10.82}, {'connected_gene': 'TKFC', 'score': 9.87}, {'connected_gene': 'DDB1', 'score': 9.87}, {'connected_gene': 'GC11P061168', 'score': 0.44}, {'connected_gene': 'PGA3', 'score': 0.29}]
chr11 GH11I061516 61516092 61517561 0.92 [{'connected_gene': 'SYT7', 'score': 10.72}, {'connected_gene': 'DDB1', 'score': 9.4}, {'connected_gene': 'TKFC', 'score': 9.4}, {'connected_gene': 'ENSG00000279878', 'score': 0.44}, {'connected_gene': 'LRRC10B', 'score': 0.44}]
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 GH11I061752 61752266 61759945 2.72 [{'connected_gene': 'MYRF', 'score': 569.06}, {'connected_gene': 'DKFZP434K028', 'score': 559.64}, {'connected_gene': 'TKFC', 'score': 1.5}, {'connected_gene': 'INCENP', 'score': 1.36}, {'connected_gene': 'GC11P061758', 'score': 0.77}]
chr11 GH11I061193 61193204 61194700 0.31 [{'connected_gene': 'PGA3', 'score': 13.44}, {'connected_gene': 'CD5', 'score': 11.03}, {'connected_gene': 'CD6', 'score': 10.86}, {'connected_gene': 'TKFC', 'score': 10.25}, {'connected_gene': 'DDB1', 'score': 10.24}, {'connected_gene': 'GC11P061168', 'score': 0.31}]
chr11 GH11I061498 61498845 61499165 0.83 [{'connected_gene': 'TMEM138', 'score': 14.63}, {'connected_gene': 'CPSF7', 'score': 13.57}, {'connected_gene': 'DDB1', 'score': 9.36}, {'connected_gene': 'TKFC', 'score': 9.35}, {'connected_gene': 'LRRC10B', 'score': 2.08}, {'connected_gene': 'LOC105369329', 'score': 0.77}, {'connected_gene': 'MIR4488', '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 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 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 GH11I061307 61307425 61307930 0.41 [{'connected_gene': 'CYB561A3', 'score': 4.96}, {'connected_gene': 'SDHAF2', 'score': 4.64}, {'connected_gene': 'CD6', 'score': 1.41}, {'connected_gene': 'PIR45270', 'score': 0.44}, {'connected_gene': 'TKFC', 'score': 0.31}, {'connected_gene': 'DDB1', 'score': 0.29}]
chr11 GH11I061256 61256849 61256998 0.2 [{'connected_gene': 'VWCE', 'score': 11.49}, {'connected_gene': 'DDB1', 'score': 11.38}, {'connected_gene': 'TKFC', 'score': 10.78}, {'connected_gene': 'PGA5', 'score': 0.37}]
chr11 GH11I061267 61267549 61267698 0.82 [{'connected_gene': 'VWCE', 'score': 12.35}, {'connected_gene': 'DDB1', 'score': 12.23}, {'connected_gene': 'TKFC', 'score': 10.87}, {'connected_gene': 'PGA5', 'score': 0.31}]
chr11 GH11I061254 61254529 61254678 0.71 [{'connected_gene': 'VWCE', 'score': 11.48}, {'connected_gene': 'DDB1', 'score': 11.38}, {'connected_gene': 'TKFC', 'score': 10.78}, {'connected_gene': 'PGA5', 'score': 0.39}]
chr11 GH11I061265 61265094 61265887 0.75 [{'connected_gene': 'VWCE', 'score': 12.35}, {'connected_gene': 'DDB1', 'score': 12.22}, {'connected_gene': 'TKFC', 'score': 10.87}, {'connected_gene': 'PGA5', 'score': 0.34}]
chr11 GH11I061250 61250909 61251038 0.2 [{'connected_gene': 'DDB1', 'score': 11.36}, {'connected_gene': 'CD6', 'score': 10.66}, {'connected_gene': 'TKFC', 'score': 10.65}, {'connected_gene': 'PGA5', 'score': 0.44}, {'connected_gene': 'VWCE', 'score': 0.26}]
chr11 GH11I061341 61341380 61343399 1.1 [{'connected_gene': 'DDB1', 'score': 550.77}, {'connected_gene': 'SDHAF2', 'score': 5.25}, {'connected_gene': 'TKFC', 'score': 0.44}]
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 GH11I061499 61499942 61500678 0.43 [{'connected_gene': 'DDB1', 'score': 9.36}, {'connected_gene': 'TKFC', 'score': 9.35}, {'connected_gene': 'LOC105369329', 'score': 0.77}, {'connected_gene': 'MIR4488', 'score': 0.44}]
chr11 GH11I061401 61401111 61402016 0.38 [{'connected_gene': 'DDB1', 'score': 11.29}, {'connected_gene': 'TKFC', 'score': 11.27}, {'connected_gene': 'PIR50742', 'score': 0.77}, {'connected_gene': 'GC11P061399', 'score': 0.77}, {'connected_gene': 'PIR41666', 'score': 0.77}]
chr11 GH11I061638 61638400 61638678 0.95 [{'connected_gene': 'GC11P061636', 'score': 550.77}, {'connected_gene': 'GC11P061637', 'score': 550.77}, {'connected_gene': 'SYT7', 'score': 11.34}, {'connected_gene': 'DAGLA', 'score': 10.94}, {'connected_gene': 'DDB1', 'score': 9.41}, {'connected_gene': 'TKFC', 'score': 9.41}, {'connected_gene': 'ENSG00000255947', 'score': 0.37}, {'connected_gene': 'RPLP0P2', 'score': 0.34}]
chr11 GH11I061353 61353152 61354597 0.95 [{'connected_gene': 'ENSG00000279246', 'score': 550.77}, {'connected_gene': 'TMEM138', 'score': 0.44}, {'connected_gene': 'CYB561A3', 'score': 0.44}, {'connected_gene': 'TKFC', 'score': 0.34}]
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}]
chr11 GH11I061539 61539273 61542474 0.88 [{'connected_gene': 'ENSG00000256443', 'score': 550.77}, {'connected_gene': 'LRRC10B', 'score': 12.41}, {'connected_gene': 'SYT7', 'score': 11.59}, {'connected_gene': 'DDB1', 'score': 9.77}, {'connected_gene': 'TKFC', 'score': 9.33}, {'connected_gene': 'ZP1', 'score': 4.93}, {'connected_gene': 'ENSG00000279878', 'score': 0.39}]

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