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
ENST00000309134 [[8968840, 8970022], [8974749, 8974884], [8977736, 8977845], [8985755, 8985988]] [[8969866, 8970022], [8974749, 8974884], [8977736, 8977820]]
ENST00000534025 [[8968840, 8970022], [8974749, 8974884], [8977736, 8977845], [8983638, 8983730], [8985755, 8986320]] [[8969866, 8970022], [8974749, 8974884], [8977736, 8977845], [8983638, 8983730], [8985755, 8985860]]
ENST00000525069 [[8969047, 8970022], [8974749, 8974884], [8977736, 8977845], [8983638, 8983730], [8986436, 8986558]] [[8969866, 8970022], [8974749, 8974884], [8977736, 8977820]]
ENST00000528117 [[8974238, 8974884], [8977736, 8977845], [8985755, 8985949]] [[8974680, 8974884], [8977736, 8977820]]
ENST00000530136 [[8974808, 8974884], [8977736, 8977845], [8983638, 8983730], [8984241, 8984399], [8985537, 8985727]] [[8974808, 8974884], [8977736, 8977820]]
NM_020644 [[8968747, 8970022], [8974749, 8974884], [8977736, 8977845], [8983638, 8983730], [8985755, 8986320]] [[8969866, 8970022], [8974749, 8974884], [8977736, 8977845], [8983638, 8983730], [8985755, 8985860]]
NM_001286094 [[8968747, 8970022], [8974749, 8974884], [8977736, 8977845], [8985755, 8986320]] [[8969866, 8970022], [8974749, 8974884], [8977736, 8977820]]
NM_001286095 [[8968747, 8970022], [8974749, 8974884], [8977736, 8977845], [8983638, 8983730], [8986436, 8986558]] [[8969866, 8970022], [8974749, 8974884], [8977736, 8977820]]
Promoter
Chrom Start End Description
chr11 8985927 8986008 CAGE_peak_1_at_TMEM9B_5end
chr11 8986279 8986293 CAGE_peak_3_at_TMEM9B_5end
chr11 8986474 8986521 CAGE_peak_2_at_TMEM9B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I008697 8697741 8701844 1.28 [{'connected_gene': 'TRIM66', 'score': 45.19}, {'connected_gene': 'STK33', 'score': 12.17}, {'connected_gene': 'TMEM9B', 'score': 5.39}, {'connected_gene': 'ENSG00000254665', 'score': 0.44}, {'connected_gene': 'RPL27A', 'score': 0.37}, {'connected_gene': 'PIR56836', 'score': 0.25}, {'connected_gene': 'ST5', 'score': 0.08}]
chr11 GH11I008755 8755509 8761919 1.02 [{'connected_gene': 'TRIM66', 'score': 10.91}, {'connected_gene': 'ENSG00000254665', 'score': 10.58}, {'connected_gene': 'RPL27A', 'score': 10.56}, {'connected_gene': 'SNORA3B', 'score': 10.0}, {'connected_gene': 'AKIP1', 'score': 8.95}, {'connected_gene': 'TMEM9B', 'score': 8.87}, {'connected_gene': 'SCUBE2', 'score': 8.86}, {'connected_gene': 'LOC105376539', 'score': 0.44}, {'connected_gene': 'PIR56836', 'score': 0.39}, {'connected_gene': 'ST5', 'score': 0.1}]
chr11 GH11I008713 8713666 8724058 1.3 [{'connected_gene': 'TRIM66', 'score': 36.54}, {'connected_gene': 'AKIP1', 'score': 14.56}, {'connected_gene': 'ENSG00000254665', 'score': 11.64}, {'connected_gene': 'RPL27A', 'score': 11.61}, {'connected_gene': 'ENSG00000255159', 'score': 11.12}, {'connected_gene': 'ST5', 'score': 10.95}, {'connected_gene': 'SNORA3B', 'score': 10.7}, {'connected_gene': 'SNORA3A', 'score': 10.7}, {'connected_gene': 'ENSG00000254900', 'score': 9.9}, {'connected_gene': 'TMEM9B', 'score': 7.43}, {'connected_gene': 'PIR56836', 'score': 0.31}]
chr11 GH11I008952 8952270 8952432 0.24 [{'connected_gene': 'ST5', 'score': 11.36}, {'connected_gene': 'AKIP1', 'score': 11.36}, {'connected_gene': 'SCUBE2', 'score': 10.2}, {'connected_gene': 'ENSG00000223080', 'score': 0.44}, {'connected_gene': 'TMEM9B-AS1', 'score': 0.39}, {'connected_gene': 'TMEM9B', 'score': 0.39}]
chr11 GH11I008806 8806211 8816271 2.11 [{'connected_gene': 'ST5', 'score': 560.87}, {'connected_gene': 'TMEM9B-AS1', 'score': 23.34}, {'connected_gene': 'AKIP1', 'score': 17.36}, {'connected_gene': 'SCUBE2', 'score': 11.34}, {'connected_gene': 'ENSG00000255159', 'score': 10.98}, {'connected_gene': 'RPL27A', 'score': 10.54}, {'connected_gene': 'ENSG00000254665', 'score': 10.54}, {'connected_gene': 'TRIM66', 'score': 9.8}, {'connected_gene': 'ENSG00000254900', 'score': 9.66}, {'connected_gene': 'TMEM9B', 'score': 6.46}, {'connected_gene': 'GC11P008808', 'score': 0.77}, {'connected_gene': 'RNA5SP330', 'score': 0.29}, {'connected_gene': 'LOC102724784', 'score': 0.26}]
chr11 GH11I009001 9001562 9002441 1.06 [{'connected_gene': 'NRIP3', 'score': 23.67}, {'connected_gene': 'AKIP1', 'score': 21.51}, {'connected_gene': 'SCUBE2', 'score': 19.61}, {'connected_gene': 'DENND5A', 'score': 14.76}, {'connected_gene': 'ZNF143', 'score': 5.53}, {'connected_gene': 'TMEM9B', 'score': 2.23}, {'connected_gene': 'IPO7', 'score': 1.53}, {'connected_gene': 'GC11P008977', 'score': 0.34}]
chr11 GH11I008771 8771506 8772279 0.2 [{'connected_gene': 'TMEM9B', 'score': 8.44}, {'connected_gene': 'LOC102724784', 'score': 0.77}, {'connected_gene': 'ENSG00000255159', 'score': 0.77}, {'connected_gene': 'LOC105376539', 'score': 0.44}, {'connected_gene': 'GC11P008791', 'score': 0.37}, {'connected_gene': 'ST5', 'score': 0.12}]
chr11 GH11I008772 8772375 8780042 1.33 [{'connected_gene': 'AKIP1', 'score': 15.07}, {'connected_gene': 'SCUBE2', 'score': 8.78}, {'connected_gene': 'TMEM9B', 'score': 6.98}, {'connected_gene': 'TMEM9B-AS1', 'score': 6.28}, {'connected_gene': 'ASCL3', 'score': 3.01}, {'connected_gene': 'LOC105376539', 'score': 0.44}, {'connected_gene': 'LOC102724784', 'score': 0.44}, {'connected_gene': 'ENSG00000255159', 'score': 0.44}, {'connected_gene': 'GC11P008791', 'score': 0.39}, {'connected_gene': 'ST5', 'score': 0.12}]
chr11 GH11I008958 8958949 8960343 0.89 [{'connected_gene': 'AKIP1', 'score': 9.98}, {'connected_gene': 'TMEM9B-AS1', 'score': 0.44}, {'connected_gene': 'TMEM9B', 'score': 0.44}, {'connected_gene': 'ENSG00000223080', 'score': 0.37}]
chr11 GH11I009046 9046217 9049038 0.46 [{'connected_gene': 'TMEM9B-AS1', 'score': 10.93}, {'connected_gene': 'SCUBE2', 'score': 8.9}, {'connected_gene': 'TMEM9B', 'score': 5.16}, {'connected_gene': 'MIR5691', 'score': 0.26}, {'connected_gene': 'LOC105376541', 'score': 0.26}]
chr11 GH11I009039 9039001 9039506 0.94 [{'connected_gene': 'TMEM9B-AS1', 'score': 10.37}, {'connected_gene': 'TMEM9B', 'score': 10.21}, {'connected_gene': 'NRIP3', 'score': 6.2}, {'connected_gene': 'ZNF143', 'score': 4.29}, {'connected_gene': 'DENND5A', 'score': 4.23}, {'connected_gene': 'RPL27A', 'score': 1.41}, {'connected_gene': 'LOC105376541', 'score': 0.28}, {'connected_gene': 'MIR5691', 'score': 0.23}, {'connected_gene': 'SCUBE2', 'score': 0.15}]
chr11 GH11I008989 8989514 8989663 0.49 [{'connected_gene': 'TMEM9B-AS1', 'score': 13.35}, {'connected_gene': 'TMEM9B', 'score': 13.35}, {'connected_gene': 'NRIP3', 'score': 0.39}, {'connected_gene': 'GC11P008977', 'score': 0.39}]
chr11 GH11I008924 8924074 8924243 0.38 [{'connected_gene': 'TMEM9B-AS1', 'score': 16.6}, {'connected_gene': 'TMEM9B', 'score': 11.86}, {'connected_gene': 'AKIP1', 'score': 8.6}, {'connected_gene': 'C11orf16', 'score': 0.44}]
chr11 GH11I008962 8962434 8966290 2.06 [{'connected_gene': 'TMEM9B-AS1', 'score': 624.43}, {'connected_gene': 'TMEM9B', 'score': 565.62}, {'connected_gene': 'AKIP1', 'score': 9.84}, {'connected_gene': 'ENSG00000238387', 'score': 4.64}, {'connected_gene': 'ENSG00000223080', 'score': 0.34}]
chr11 GH11I008837 8837231 8842007 1.1 [{'connected_gene': 'TMEM9B-AS1', 'score': 27.14}, {'connected_gene': 'AKIP1', 'score': 17.34}, {'connected_gene': 'ST5', 'score': 10.5}, {'connected_gene': 'ENSG00000255159', 'score': 10.5}, {'connected_gene': 'ENSG00000254665', 'score': 10.03}, {'connected_gene': 'RPL27A', 'score': 10.02}, {'connected_gene': 'SCUBE2', 'score': 9.59}, {'connected_gene': 'LOC101927936', 'score': 9.46}, {'connected_gene': 'RIC3', 'score': 9.46}, {'connected_gene': 'TMEM9B', 'score': 4.11}, {'connected_gene': 'RNA5SP330', 'score': 0.44}, {'connected_gene': 'GC11P008808', 'score': 0.29}]
chr11 GH11I008829 8829214 8836410 1.21 [{'connected_gene': 'TMEM9B-AS1', 'score': 26.47}, {'connected_gene': 'AKIP1', 'score': 13.57}, {'connected_gene': 'SCUBE2', 'score': 10.98}, {'connected_gene': 'WEE1', 'score': 10.65}, {'connected_gene': 'TMEM9B', 'score': 10.59}, {'connected_gene': 'EIF3F', 'score': 10.27}, {'connected_gene': 'RPL27A', 'score': 10.08}, {'connected_gene': 'ENSG00000254665', 'score': 10.03}, {'connected_gene': 'ENSG00000254900', 'score': 9.3}, {'connected_gene': 'RNA5SP330', 'score': 0.39}, {'connected_gene': 'GC11P008808', 'score': 0.34}, {'connected_gene': 'ST5', 'score': 0.18}]
chr11 GH11I008905 8905048 8908297 0.83 [{'connected_gene': 'TMEM9B-AS1', 'score': 41.31}, {'connected_gene': 'AKIP1', 'score': 21.69}, {'connected_gene': 'ASCL3', 'score': 10.33}, {'connected_gene': 'ENSG00000223080', 'score': 10.33}, {'connected_gene': 'TMEM9B', 'score': 9.33}, {'connected_gene': 'SCUBE2', 'score': 9.16}, {'connected_gene': 'C11orf16', 'score': 6.5}, {'connected_gene': 'ST5', 'score': 0.77}, {'connected_gene': 'GC11M008877', 'score': 0.31}, {'connected_gene': 'ENSG00000202276', 'score': 0.31}]
chr11 GH11I008916 8916120 8918842 0.79 [{'connected_gene': 'TMEM9B-AS1', 'score': 23.75}, {'connected_gene': 'AKIP1', 'score': 20.62}, {'connected_gene': 'ENSG00000223080', 'score': 12.02}, {'connected_gene': 'ASCL3', 'score': 12.02}, {'connected_gene': 'TMEM9B', 'score': 11.84}, {'connected_gene': 'SCUBE2', 'score': 9.49}, {'connected_gene': 'C11orf16', 'score': 0.37}]
chr11 GH11I008967 8967299 8967534 0.42 [{'connected_gene': 'DENND5A', 'score': 4.26}, {'connected_gene': 'NRIP3', 'score': 3.64}, {'connected_gene': 'ZNF143', 'score': 2.49}, {'connected_gene': 'TMEM9B', 'score': 2.17}, {'connected_gene': 'TMEM9B-AS1', 'score': 0.77}, {'connected_gene': 'GC11P008977', 'score': 0.39}]
chr11 GH11I009361 9361045 9365986 1.66 [{'connected_gene': 'DENND5A', 'score': 31.56}, {'connected_gene': 'NRIP3', 'score': 28.47}, {'connected_gene': 'SNORA3B', 'score': 16.48}, {'connected_gene': 'ZNF143', 'score': 15.37}, {'connected_gene': 'AKIP1', 'score': 12.18}, {'connected_gene': 'RPL21P97', 'score': 11.44}, {'connected_gene': 'RPL27A', 'score': 11.27}, {'connected_gene': 'IPO7', 'score': 9.64}, {'connected_gene': 'TMEM41B', 'score': 6.17}, {'connected_gene': 'TMEM9B', 'score': 2.9}, {'connected_gene': 'SWAP70', 'score': 1.25}, {'connected_gene': 'GC11P009354', 'score': 0.44}]
chr11 GH11I009158 9158912 9161155 1.01 [{'connected_gene': 'DENND5A', 'score': 32.33}, {'connected_gene': 'NRIP3', 'score': 28.15}, {'connected_gene': 'SCUBE2', 'score': 16.69}, {'connected_gene': 'TMEM41B', 'score': 9.74}, {'connected_gene': 'ZNF143', 'score': 6.51}, {'connected_gene': 'IPO7', 'score': 2.32}, {'connected_gene': 'TMEM9B', 'score': 1.52}, {'connected_gene': 'RPL27A', 'score': 1.31}, {'connected_gene': 'GC11M009222', 'score': 0.21}]
chr11 GH11I009003 9003494 9004582 1.83 [{'connected_gene': 'LOC105376541', 'score': 550.77}, {'connected_gene': 'NRIP3', 'score': 550.77}, {'connected_gene': 'SNORA3B', 'score': 14.49}, {'connected_gene': 'SCUBE2', 'score': 13.16}, {'connected_gene': 'TMEM9B', 'score': 13.06}, {'connected_gene': 'RPL27A', 'score': 11.12}, {'connected_gene': 'RPL21P97', 'score': 10.48}, {'connected_gene': 'AKIP1', 'score': 5.07}, {'connected_gene': 'GC11P008977', 'score': 0.31}]
chr11 GH11I009004 9004734 9004883 0.31 [{'connected_gene': 'LOC105376541', 'score': 550.77}, {'connected_gene': 'NRIP3', 'score': 550.77}, {'connected_gene': 'TMEM9B', 'score': 12.98}, {'connected_gene': 'MIR5691', 'score': 0.17}]
chr11 GH11I009088 9088918 9089933 0.38 [{'connected_gene': 'MIR5691', 'score': 550.77}, {'connected_gene': 'TMEM9B-AS1', 'score': 12.15}, {'connected_gene': 'TMEM9B', 'score': 12.15}, {'connected_gene': 'SCUBE2', 'score': 11.4}, {'connected_gene': 'LOC105376541', 'score': 0.17}]
chr11 GH11I009273 9273201 9274600 1.1 [{'connected_gene': 'TRL-CAA5-1', 'score': 550.77}, {'connected_gene': 'DENND5A', 'score': 36.05}, {'connected_gene': 'NRIP3', 'score': 26.34}, {'connected_gene': 'TMEM41B', 'score': 10.56}, {'connected_gene': 'SCUBE2', 'score': 9.74}, {'connected_gene': 'ZNF143', 'score': 8.99}, {'connected_gene': 'IPO7', 'score': 2.48}, {'connected_gene': 'TMEM9B', 'score': 1.8}]

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