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
ENST00000309166 [[9002122, 9005107], [9005421, 9005516], [9005618, 9005671], [9007257, 9007397], [9009094, 9009177], [9009664, 9009829], [9025308, 9025596]] [[9005091, 9005107], [9005421, 9005516], [9005618, 9005671], [9007257, 9007397], [9009094, 9009177], [9009664, 9009829], [9025308, 9025482]]
ENST00000534759 [[9004105, 9004545], [9005421, 9005516], [9005618, 9005650]] [[9004505, 9004545], [9005421, 9005516], [9005618, 9005650]]
ENST00000531142 [[9005064, 9005516], [9005618, 9005671], [9007257, 9007303]] [[9005417, 9005516], [9005618, 9005671], [9007257, 9007303]]
ENST00000531090 [[9005125, 9005516], [9005618, 9005671], [9009094, 9009177], [9009664, 9009829], [9025308, 9025596]] [[9005667, 9005671], [9009094, 9009177], [9009664, 9009829], [9025308, 9025482]]
ENST00000525100 [[9007317, 9007397], [9009094, 9009177], [9009664, 9009808], [9025308, 9025548]] [[9007317, 9007397], [9009094, 9009177], [9009664, 9009808], [9025308, 9025482]]
NM_020645 [[9002122, 9005107], [9005421, 9005516], [9005618, 9005671], [9007257, 9007397], [9009094, 9009177], [9009664, 9009829], [9025308, 9025596]] [[9005091, 9005107], [9005421, 9005516], [9005618, 9005671], [9007257, 9007397], [9009094, 9009177], [9009664, 9009829], [9025308, 9025482]]
Promoter
Chrom Start End Description
chr11 9025541 9025555 CAGE_peak_1_at_NRIP3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I009136 9136897 9140731 1.1 [{'connected_gene': 'SCUBE2', 'score': 562.59}, {'connected_gene': 'SNORA3B', 'score': 14.9}, {'connected_gene': 'LOC105376541', 'score': 11.48}, {'connected_gene': 'NRIP3', 'score': 11.48}, {'connected_gene': 'ZNF143', 'score': 11.38}, {'connected_gene': 'TMEM41B', 'score': 6.37}, {'connected_gene': 'DENND5A', 'score': 4.89}, {'connected_gene': 'GC11M009222', 'score': 0.18}]
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 GH11I009061 9061970 9062061 0.4 [{'connected_gene': 'NRIP3', 'score': 6.1}, {'connected_gene': 'DENND5A', 'score': 4.26}, {'connected_gene': 'ZNF143', 'score': 2.74}, {'connected_gene': 'RPL27A', 'score': 1.53}, {'connected_gene': 'MIR5691', 'score': 0.31}, {'connected_gene': 'LOC105376541', 'score': 0.22}, {'connected_gene': 'SCUBE2', 'score': 0.18}]
chr11 GH11I009669 9669893 9670385 0.76 [{'connected_gene': 'NRIP3', 'score': 4.96}, {'connected_gene': 'SWAP70', 'score': 0.44}, {'connected_gene': 'RN7SKP50', 'score': 0.39}, {'connected_gene': 'GC11P009430', 'score': 0.07}]
chr11 GH11I009678 9678214 9679009 0.4 [{'connected_gene': 'NRIP3', 'score': 4.88}, {'connected_gene': 'RN7SKP50', 'score': 0.77}, {'connected_gene': 'SWAP70', 'score': 0.39}, {'connected_gene': 'GC11P009430', 'score': 0.07}]
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 GH11I009288 9288999 9289342 0.36 [{'connected_gene': 'TMEM41B', 'score': 13.01}, {'connected_gene': 'KRT8P41', 'score': 7.83}, {'connected_gene': 'DENND5A', 'score': 4.89}, {'connected_gene': 'NRIP3', 'score': 2.95}, {'connected_gene': 'ZNF143', 'score': 2.11}, {'connected_gene': 'ENSG00000273725', 'score': 0.44}, {'connected_gene': 'PRR13P2', 'score': 0.34}]
chr11 GH11I009751 9751838 9767698 2.27 [{'connected_gene': 'SBF2-AS1', 'score': 560.37}, {'connected_gene': 'LOC440028', 'score': 550.77}, {'connected_gene': 'CTR9', 'score': 30.56}, {'connected_gene': 'SBF2', 'score': 28.25}, {'connected_gene': 'ENSG00000254397', 'score': 25.8}, {'connected_gene': 'RPL21P97', 'score': 21.96}, {'connected_gene': 'ST5', 'score': 20.5}, {'connected_gene': 'SWAP70', 'score': 17.4}, {'connected_gene': 'TMEM9B-AS1', 'score': 13.59}, {'connected_gene': 'ZNF143', 'score': 10.62}, {'connected_gene': 'ENSG00000238387', 'score': 10.31}, {'connected_gene': 'WEE1', 'score': 10.31}, {'connected_gene': 'NRIP3', 'score': 5.73}, {'connected_gene': 'LOC105376544', 'score': 4.39}, {'connected_gene': 'PIR37097', 'score': 0.77}, {'connected_gene': 'GC11M009781', 'score': 0.34}, {'connected_gene': 'PIR54730', 'score': 0.34}]
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 GH11I009401 9401297 9401508 0.33 [{'connected_gene': 'DENND5A', 'score': 10.97}, {'connected_gene': 'IPO7', 'score': 1.97}, {'connected_gene': 'NRIP3', 'score': 1.3}, {'connected_gene': 'GC11P009428', 'score': 0.31}]
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 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}]
chr11 GH11I008979 8979402 8979799 0.46 [{'connected_gene': 'GC11P008977', 'score': 550.77}, {'connected_gene': 'AKIP1', 'score': 16.1}, {'connected_gene': 'TUB', 'score': 12.97}, {'connected_gene': 'SCUBE2', 'score': 9.47}, {'connected_gene': 'NRIP3', 'score': 9.38}]
chr11 GH11I009674 9674986 9676483 0.89 [{'connected_gene': 'ENSG00000254397', 'score': 18.15}, {'connected_gene': 'TMEM9B-AS1', 'score': 15.22}, {'connected_gene': 'ST5', 'score': 12.62}, {'connected_gene': 'ENSG00000238387', 'score': 10.17}, {'connected_gene': 'WEE1', 'score': 10.16}, {'connected_gene': 'SWAP70', 'score': 9.33}, {'connected_gene': 'NRIP3', 'score': 6.35}, {'connected_gene': 'RN7SKP50', 'score': 0.44}, {'connected_gene': 'GC11P009430', 'score': 0.07}]