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
ENST00000554113 [[74111577, 74111745], [74128689, 74128745], [74138244, 74138300], [74153961, 74154088], [74156077, 74156196]] [[74154036, 74154088], [74156077, 74156196]]
ENST00000555631 [[74111693, 74111745], [74119872, 74119918], [74121549, 74121588], [74125549, 74125659], [74128689, 74128745], [74138244, 74138300], [74153961, 74154088], [74156077, 74156218]] [[74125624, 74125659], [74128689, 74128745], [74138244, 74138300], [74153961, 74154088], [74156077, 74156218]]
ENST00000553645 [[74111701, 74111745], [74121549, 74121588], [74125549, 74125659], [74128689, 74128745], [74138244, 74138300], [74153961, 74154088], [74156077, 74156218], [74162604, 74170435]] [[74111742, 74111745], [74121549, 74121588], [74125549, 74125659], [74128689, 74128745], [74138244, 74138300], [74153961, 74154088], [74156077, 74156218], [74162604, 74162645]]
ENST00000311089 [[74111711, 74111745], [74121549, 74121588], [74128689, 74128745], [74138244, 74138300], [74153961, 74154088], [74156077, 74156218], [74162604, 74164463]] [[74154036, 74154088], [74156077, 74156218], [74162604, 74162645]]
ENST00000555919 [[74111719, 74111745], [74117869, 74118030], [74119872, 74119918], [74121549, 74121588], [74125549, 74125659], [74128689, 74128745], [74138244, 74138300], [74153961, 74153971]] [[74125624, 74125659], [74128689, 74128745], [74138244, 74138300], [74153961, 74153971]]
ENST00000554339 [[74111720, 74111745], [74153961, 74154088], [74156077, 74156218], [74162604, 74162859]] [[74111742, 74111745], [74153961, 74154088], [74156077, 74156218], [74162604, 74162645]]
ENST00000554871 [[74111729, 74111745], [74119872, 74119918], [74121549, 74121588], [74125549, 74125659], [74128689, 74128745], [74138244, 74138300], [74153961, 74154088], [74156077, 74156218], [74162604, 74162645]] [[74125624, 74125659], [74128689, 74128745], [74138244, 74138300], [74153961, 74154088], [74156077, 74156218], [74162604, 74162645]]
ENST00000540526 [[74119871, 74119918], [74121549, 74121588], [74125549, 74125659], [74128689, 74128745], [74138244, 74138300], [74153961, 74154088], [74156077, 74156218], [74162604, 74162645]] [[74125624, 74125659], [74128689, 74128745], [74138244, 74138300], [74153961, 74154088], [74156077, 74156218], [74162604, 74162645]]
ENST00000559993 [[74125549, 74125659], [74128689, 74128745], [74138244, 74138300], [74139647, 74139794], [74153961, 74154088], [74156077, 74156220]] [[74154036, 74154088], [74156077, 74156220]]
ENST00000554159 [[74125564, 74125659], [74128689, 74128745], [74153961, 74154088], [74162604, 74162778]] [[74125564, 74125659], [74128689, 74128745], [74153961, 74154014]]
NM_031427 [[74111577, 74111745], [74121549, 74121588], [74125549, 74125659], [74128689, 74128745], [74138244, 74138300], [74153961, 74154088], [74156077, 74156218], [74162604, 74170431]] [[74111742, 74111745], [74121549, 74121588], [74125549, 74125659], [74128689, 74128745], [74138244, 74138300], [74153961, 74154088], [74156077, 74156218], [74162604, 74162645]]
NM_001201366 [[74111577, 74111745], [74119872, 74119918], [74121549, 74121588], [74125549, 74125659], [74128689, 74128745], [74138244, 74138300], [74153961, 74154088], [74156077, 74156218], [74162604, 74170431]] [[74125624, 74125659], [74128689, 74128745], [74138244, 74138300], [74153961, 74154088], [74156077, 74156218], [74162604, 74162645]]
Promoter
Chrom Start End Description
chr14 74111671 74111730 CAGE_peak_1_at_DNAL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I074591 74591488 74600971 1.39 [{'connected_gene': 'PNMA1', 'score': 16.56}, {'connected_gene': 'ELMSAN1', 'score': 16.36}, {'connected_gene': 'DNAL1', 'score': 15.16}, {'connected_gene': 'LIN52', 'score': 13.7}, {'connected_gene': 'ENSG00000258559', 'score': 12.25}, {'connected_gene': 'ZNF410', 'score': 11.99}, {'connected_gene': 'ABCD4', 'score': 11.68}, {'connected_gene': 'MLH3', 'score': 10.71}, {'connected_gene': 'NEK9', 'score': 10.44}, {'connected_gene': 'AREL1', 'score': 6.83}, {'connected_gene': 'NPC2', 'score': 3.21}, {'connected_gene': 'LTBP2', 'score': 2.67}, {'connected_gene': 'LOC101928352', 'score': 0.37}, {'connected_gene': 'ENSG00000258425', 'score': 0.26}]
chr14 GH14I073638 73638964 73640726 0.49 [{'connected_gene': 'PNMA1', 'score': 21.87}, {'connected_gene': 'ELMSAN1', 'score': 7.61}, {'connected_gene': 'ACOT1', 'score': 5.35}, {'connected_gene': 'DNAL1', 'score': 0.44}, {'connected_gene': 'ENSG00000258603', 'score': 0.44}]
chr14 GH14I073661 73661293 73663198 1.02 [{'connected_gene': 'PNMA1', 'score': 22.62}, {'connected_gene': 'ACOT1', 'score': 5.58}, {'connected_gene': 'RNU6-240P', 'score': 0.77}, {'connected_gene': 'DNAL1', 'score': 0.37}, {'connected_gene': 'ENSG00000258660', 'score': 0.28}]
chr14 GH14I073673 73673963 73674076 0.34 [{'connected_gene': 'PNMA1', 'score': 11.47}, {'connected_gene': 'FAM161B', 'score': 1.33}, {'connected_gene': 'RNU6-240P', 'score': 0.39}, {'connected_gene': 'DNAL1', 'score': 0.31}, {'connected_gene': 'ENSG00000258660', 'score': 0.31}]
chr14 GH14I073663 73663492 73664318 0.63 [{'connected_gene': 'PNMA1', 'score': 20.66}, {'connected_gene': 'RNU6-240P', 'score': 0.77}, {'connected_gene': 'DNAL1', 'score': 0.37}, {'connected_gene': 'ENSG00000258660', 'score': 0.28}]
chr14 GH14I073722 73722583 73731427 1.39 [{'connected_gene': 'ELMSAN1', 'score': 19.28}, {'connected_gene': 'RBM25', 'score': 13.58}, {'connected_gene': 'ZNF410', 'score': 12.35}, {'connected_gene': 'ENSG00000258559', 'score': 11.28}, {'connected_gene': 'PNMA1', 'score': 10.74}, {'connected_gene': 'ENSG00000258891', 'score': 10.35}, {'connected_gene': 'ACOT1', 'score': 8.16}, {'connected_gene': 'LOC100506476', 'score': 7.14}, {'connected_gene': 'DNAL1', 'score': 6.91}, {'connected_gene': 'ENSG00000258695', 'score': 6.3}, {'connected_gene': 'GC14P073756', 'score': 0.31}]
chr14 GH14I073748 73748908 73766343 2.62 [{'connected_gene': 'ELMSAN1', 'score': 597.03}, {'connected_gene': 'GC14P073756', 'score': 550.77}, {'connected_gene': 'MIR4505', 'score': 550.77}, {'connected_gene': 'ZNF410', 'score': 33.38}, {'connected_gene': 'PNMA1', 'score': 24.22}, {'connected_gene': 'RBM25', 'score': 16.17}, {'connected_gene': 'LOC100506476', 'score': 15.43}, {'connected_gene': 'NUMB', 'score': 11.82}, {'connected_gene': 'FCF1', 'score': 11.53}, {'connected_gene': 'PTGR2', 'score': 11.4}, {'connected_gene': 'ENSG00000223300', 'score': 11.39}, {'connected_gene': 'LOC100420966', 'score': 10.28}, {'connected_gene': 'DCAF4', 'score': 9.86}, {'connected_gene': 'DNAL1', 'score': 8.41}, {'connected_gene': 'ACOT1', 'score': 8.34}, {'connected_gene': 'ENSG00000258944', 'score': 5.79}, {'connected_gene': 'NT5CP2', 'score': 4.68}, {'connected_gene': 'RIOX1', 'score': 3.99}, {'connected_gene': 'COQ6', 'score': 2.29}, {'connected_gene': 'GC14M073765', 'score': 0.37}]
chr14 GH14I073477 73477400 73478768 1.22 [{'connected_gene': 'NUMB', 'score': 9.76}, {'connected_gene': 'LOC100506476', 'score': 5.5}, {'connected_gene': 'DNAL1', 'score': 4.88}, {'connected_gene': 'RIOX1', 'score': 0.39}, {'connected_gene': 'GC14M073418', 'score': 0.39}, {'connected_gene': 'HEATR4', 'score': 0.18}]
chr14 GH14I073643 73643764 73645627 1.98 [{'connected_gene': 'DNAL1', 'score': 550.77}, {'connected_gene': 'PNMA1', 'score': 11.96}, {'connected_gene': 'LOC100506476', 'score': 8.35}, {'connected_gene': 'ENSG00000258603', 'score': 0.39}]
chr14 GH14I073650 73650902 73650961 0.5 [{'connected_gene': 'DNAL1', 'score': 550.44}, {'connected_gene': 'RNU6-240P', 'score': 0.44}]
chr14 GH14I073696 73696058 73697508 1.22 [{'connected_gene': 'DNAL1', 'score': 13.26}, {'connected_gene': 'LOC100506476', 'score': 10.55}, {'connected_gene': 'PNMA1', 'score': 5.45}, {'connected_gene': 'ENSG00000258660', 'score': 0.77}, {'connected_gene': 'RNU6-240P', 'score': 0.28}]
chr14 GH14I073717 73717291 73720201 1.14 [{'connected_gene': 'RBM25', 'score': 43.2}, {'connected_gene': 'ENSG00000258559', 'score': 42.18}, {'connected_gene': 'NT5CP1', 'score': 16.74}, {'connected_gene': 'DNAL1', 'score': 13.02}, {'connected_gene': 'ABCD4', 'score': 11.83}, {'connected_gene': 'PNMA1', 'score': 11.12}, {'connected_gene': 'ZNF410', 'score': 10.97}, {'connected_gene': 'ELMSAN1', 'score': 10.38}, {'connected_gene': 'LOC100506476', 'score': 9.11}, {'connected_gene': 'ACOT1', 'score': 7.9}, {'connected_gene': 'NT5CP2', 'score': 6.5}, {'connected_gene': 'GC14P073756', 'score': 0.28}]
chr14 GH14I073135 73135818 73138240 1.98 [{'connected_gene': 'PSEN1', 'score': 550.77}, {'connected_gene': 'RBM25', 'score': 39.0}, {'connected_gene': 'ELMSAN1', 'score': 24.43}, {'connected_gene': 'LOC101928123', 'score': 18.13}, {'connected_gene': 'PNMA1', 'score': 16.56}, {'connected_gene': 'ENSG00000258891', 'score': 15.26}, {'connected_gene': 'DNAL1', 'score': 15.16}, {'connected_gene': 'LIN52', 'score': 13.69}, {'connected_gene': 'ZNF410', 'score': 11.99}, {'connected_gene': 'ENSG00000258443', 'score': 11.91}, {'connected_gene': 'PAPLN', 'score': 10.58}, {'connected_gene': 'ENSG00000258695', 'score': 9.8}, {'connected_gene': 'ZFYVE1', 'score': 9.74}, {'connected_gene': 'DCAF4', 'score': 8.76}, {'connected_gene': 'ACOT1', 'score': 3.99}, {'connected_gene': 'ENSG00000259109', 'score': 0.23}]
chr14 GH14I073591 73591401 73592646 1.79 [{'connected_gene': 'ACOT4', 'score': 566.78}, {'connected_gene': 'PIR31448', 'score': 550.77}, {'connected_gene': 'DCAF4', 'score': 9.86}, {'connected_gene': 'NUMB', 'score': 9.86}, {'connected_gene': 'LOC100506476', 'score': 8.04}, {'connected_gene': 'ACOT1', 'score': 6.15}, {'connected_gene': 'DNAL1', 'score': 4.57}, {'connected_gene': 'ACOT6', 'score': 0.37}]
chr14 GH14I073567 73567081 73570832 2 [{'connected_gene': 'ACOT2', 'score': 556.04}, {'connected_gene': 'GC14M073564', 'score': 550.77}, {'connected_gene': 'GC14M073568', 'score': 550.77}, {'connected_gene': 'ACOT1', 'score': 16.19}, {'connected_gene': 'ENSG00000258695', 'score': 10.29}, {'connected_gene': 'DCAF4', 'score': 9.87}, {'connected_gene': 'LOC100506476', 'score': 9.59}, {'connected_gene': 'DNAL1', 'score': 5.07}]
chr14 GH14I073736 73736492 73737673 0.2 [{'connected_gene': 'LOC100506476', 'score': 11.36}, {'connected_gene': 'DNAL1', 'score': 10.6}, {'connected_gene': 'PNMA1', 'score': 8.27}, {'connected_gene': 'ACOT1', 'score': 7.96}, {'connected_gene': 'GC14P073756', 'score': 0.37}, {'connected_gene': 'ELMSAN1', 'score': 0.23}]
chr14 GH14I073793 73793826 73798058 1.33 [{'connected_gene': 'LOC100506476', 'score': 57.37}, {'connected_gene': 'PTGR2', 'score': 25.86}, {'connected_gene': 'LINC02274', 'score': 13.88}, {'connected_gene': 'ENSG00000223300', 'score': 11.17}, {'connected_gene': 'PNMA1', 'score': 10.61}, {'connected_gene': 'DNAL1', 'score': 10.11}, {'connected_gene': 'ELMSAN1', 'score': 0.44}, {'connected_gene': 'GC14P073803', 'score': 0.44}]
chr14 GH14I073700 73700086 73703080 0.49 [{'connected_gene': 'ENSG00000258660', 'score': 550.77}, {'connected_gene': 'DNAL1', 'score': 13.23}, {'connected_gene': 'PNMA1', 'score': 12.21}, {'connected_gene': 'ACOT1', 'score': 7.77}, {'connected_gene': 'GC14P073713', 'score': 0.39}]
chr14 GH14I073414 73414342 73415818 0.82 [{'connected_gene': 'ENSG00000258944', 'score': 14.08}, {'connected_gene': 'ACOT1', 'score': 8.44}, {'connected_gene': 'DNAL1', 'score': 6.57}, {'connected_gene': 'NT5CP2', 'score': 5.97}, {'connected_gene': 'NUMB', 'score': 4.86}, {'connected_gene': 'FAM161B', 'score': 4.18}, {'connected_gene': 'GC14P073395', 'score': 0.37}, {'connected_gene': 'ENSG00000251393', 'score': 0.25}]
chr14 GH14I073632 73632991 73635012 1.35 [{'connected_gene': 'ENSG00000258603', 'score': 550.77}, {'connected_gene': 'ENSG00000258559', 'score': 16.31}, {'connected_gene': 'ABCD4', 'score': 13.6}, {'connected_gene': 'RBM25', 'score': 11.2}, {'connected_gene': 'PNMA1', 'score': 10.54}, {'connected_gene': 'PTGR2', 'score': 10.42}, {'connected_gene': 'ENSG00000223300', 'score': 10.42}, {'connected_gene': 'HEATR4', 'score': 9.14}, {'connected_gene': 'LOC100506476', 'score': 8.58}, {'connected_gene': 'DNAL1', 'score': 0.39}]
chr14 GH14I073767 73767602 73775476 1.72 [{'connected_gene': 'ENSG00000258559', 'score': 50.22}, {'connected_gene': 'YLPM1', 'score': 47.91}, {'connected_gene': 'RBM25', 'score': 33.53}, {'connected_gene': 'NT5CP1', 'score': 32.66}, {'connected_gene': 'PNMA1', 'score': 21.3}, {'connected_gene': 'PTGR2', 'score': 16.45}, {'connected_gene': 'LOC100506476', 'score': 15.43}, {'connected_gene': 'LIN52', 'score': 14.46}, {'connected_gene': 'DNAL1', 'score': 12.33}, {'connected_gene': 'ABCD4', 'score': 11.82}, {'connected_gene': 'ENSG00000223300', 'score': 11.03}, {'connected_gene': 'ENSG00000258443', 'score': 10.02}, {'connected_gene': 'FAM161B', 'score': 9.96}, {'connected_gene': 'ELMSAN1', 'score': 8.92}, {'connected_gene': 'LINC02274', 'score': 8.49}, {'connected_gene': 'ACOT1', 'score': 5.12}, {'connected_gene': 'ENTPD5', 'score': 4.46}, {'connected_gene': 'RIOX1', 'score': 3.09}, {'connected_gene': 'ZNF410', 'score': 2.27}, {'connected_gene': 'COQ6', 'score': 1.93}, {'connected_gene': 'GC14M073765', 'score': 0.44}, {'connected_gene': 'MIR4505', 'score': 0.39}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.