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
ENST00000475483 [[141594965, 141595236], [141622461, 141622590], [141626008, 141626116], [141632493, 141632678], [141634811, 141634852]] [[141622523, 141622590], [141626008, 141626116], [141632493, 141632678], [141634811, 141634852]]
ENST00000286371 [[141595455, 141595752], [141622461, 141622590], [141626008, 141626116], [141632493, 141632678], [141634811, 141634862], [141640818, 141640905], [141644372, 141645326]] [[141595643, 141595752], [141622461, 141622590], [141626008, 141626116], [141632493, 141632678], [141634811, 141634862], [141640818, 141640905], [141644372, 141644543]]
ENST00000465172 [[141595457, 141595752], [141620977, 141621069], [141622461, 141622590], [141626008, 141626116], [141632493, 141632678], [141634811, 141634862], [141635396, 141635416], [141640818, 141640905], [141644372, 141645356]] [[141595643, 141595752], [141620977, 141621003]]
ENST00000539728 [[141595484, 141595752], [141620977, 141621069], [141622461, 141622590], [141626008, 141626116], [141632493, 141632678], [141634811, 141634862], [141635396, 141635416], [141640818, 141640905], [141644372, 141645356]] [[141621002, 141621069], [141622461, 141622590], [141626008, 141626116], [141632493, 141632678], [141634811, 141634862], [141635396, 141635416], [141640818, 141640840]]
ENST00000466678 [[141595647, 141595752], [141620977, 141621069], [141622461, 141622590], [141626008, 141626116], [141632493, 141632678], [141634811, 141634862], [141640818, 141640905], [141644372, 141645323]] [[141595647, 141595752], [141620977, 141621003]]
ENST00000462082 [[141595696, 141595752], [141622461, 141622590], [141644372, 141645024]] [[141622491, 141622590], [141644372, 141644543]]
ENST00000495216 [[141596370, 141596404], [141620977, 141621069], [141622461, 141622590], [141626008, 141626116], [141632493, 141632548]] [[141621002, 141621069], [141622461, 141622590], [141626008, 141626116], [141632493, 141632548]]
ENST00000482635 [[141622569, 141622590], [141626008, 141626116], [141632493, 141632678], [141634811, 141634862], [141640818, 141641022]] None
ENST00000487199 [[141634811, 141634862], [141635217, 141635282], [141635396, 141635416], [141640818, 141640905], [141644372, 141644570]] [[141634811, 141634862], [141635217, 141635250]]
ENST00000484727 [[141640375, 141640490], [141640818, 141640905], [141644372, 141644827]] None
ENST00000486782 [[141640789, 141640905], [141644372, 141644485]] None
NM_001679 [[141595433, 141595752], [141622461, 141622590], [141626008, 141626116], [141632493, 141632678], [141634811, 141634862], [141640818, 141640905], [141644372, 141645390]] [[141595643, 141595752], [141622461, 141622590], [141626008, 141626116], [141632493, 141632678], [141634811, 141634862], [141640818, 141640905], [141644372, 141644543]]
Promoter
Chrom Start End Description
chr3 141594976 141595019 CAGE_peak_2_at_ATP1B3_5end
chr3 141595036 141595041 CAGE_peak_10_at_ATP1B3_5end
chr3 141595050 141595076 CAGE_peak_4_at_ATP1B3_5end
chr3 141595077 141595109 CAGE_peak_3_at_ATP1B3_5end
chr3 141595477 141595492 CAGE_peak_1_at_ATP1B3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I141736 141736964 141742920 2.34 [{'connected_gene': 'RNF7', 'score': 561.84}, {'connected_gene': 'RASA2', 'score': 14.48}, {'connected_gene': 'ATP1B3', 'score': 11.61}, {'connected_gene': 'ATP1B3-AS1', 'score': 10.99}, {'connected_gene': 'GRK7', 'score': 10.82}, {'connected_gene': 'RNU6-509P', 'score': 10.48}, {'connected_gene': 'ATR', 'score': 9.74}]
chr3 GH03I141689 141689801 141691054 0.31 [{'connected_gene': 'RNF7', 'score': 11.89}, {'connected_gene': 'ATP1B3', 'score': 10.61}, {'connected_gene': 'GRK7', 'score': 10.39}, {'connected_gene': 'TPT1P3', 'score': 0.37}, {'connected_gene': 'LOC646730', 'score': 0.29}]
chr3 GH03I141685 141685954 141687498 0.95 [{'connected_gene': 'RNF7', 'score': 11.87}, {'connected_gene': 'ATP1B3', 'score': 10.61}, {'connected_gene': 'GRK7', 'score': 10.38}, {'connected_gene': 'TPT1P3', 'score': 0.34}, {'connected_gene': 'LOC646730', 'score': 0.31}]
chr3 GH03I141677 141677818 141677972 0.23 [{'connected_gene': 'RNF7', 'score': 11.95}, {'connected_gene': 'GRK7', 'score': 10.19}, {'connected_gene': 'ATP1B3', 'score': 4.81}, {'connected_gene': 'LOC646730', 'score': 0.37}, {'connected_gene': 'TPT1P3', 'score': 0.29}]
chr3 GH03I141860 141860621 141861968 1.15 [{'connected_gene': 'RNF7', 'score': 11.65}, {'connected_gene': 'GRK7', 'score': 10.86}, {'connected_gene': 'ATP1B3', 'score': 7.5}, {'connected_gene': 'GC03M141866', 'score': 0.77}, {'connected_gene': 'LOC105374134', 'score': 0.44}]
chr3 GH03I141933 141933705 141934468 0.38 [{'connected_gene': 'RNF7', 'score': 11.23}, {'connected_gene': 'GRK7', 'score': 10.32}, {'connected_gene': 'ATP1B3', 'score': 7.34}, {'connected_gene': 'ENSG00000279147', 'score': 0.77}, {'connected_gene': 'ATP1B3-AS1', 'score': 0.37}]
chr3 GH03I141863 141863327 141864706 0.45 [{'connected_gene': 'HMGN2P25', 'score': 550.77}, {'connected_gene': 'GC03M141866', 'score': 550.77}, {'connected_gene': 'RNF7', 'score': 11.43}, {'connected_gene': 'GRK7', 'score': 11.31}, {'connected_gene': 'ATP1B3', 'score': 9.83}, {'connected_gene': 'LOC105374134', 'score': 0.39}]
chr3 GH03I142026 142026303 142030177 2.1 [{'connected_gene': 'TFDP2', 'score': 550.13}, {'connected_gene': 'RNU6-425P', 'score': 11.69}, {'connected_gene': 'GK5', 'score': 11.45}, {'connected_gene': 'ATP1B3', 'score': 6.99}, {'connected_gene': 'RPL19P6', 'score': 0.37}, {'connected_gene': 'PIR46950', 'score': 0.18}]
chr3 GH03I141463 141463479 141463628 0.64 [{'connected_gene': 'RASA2', 'score': 13.0}, {'connected_gene': 'ZBTB38', 'score': 10.67}, {'connected_gene': 'ATP1B3', 'score': 10.41}, {'connected_gene': 'RNU6-509P', 'score': 10.41}, {'connected_gene': 'KRT18P35', 'score': 0.44}, {'connected_gene': 'ENSG00000249417', 'score': 0.15}]
chr3 GH03I141497 141497589 141501618 1.41 [{'connected_gene': 'RASA2', 'score': 14.75}, {'connected_gene': 'ZBTB38', 'score': 4.77}, {'connected_gene': 'ATP1B3', 'score': 1.17}, {'connected_gene': 'RASA2-IT1', 'score': 0.31}]
chr3 GH03I141938 141938819 141943216 1.23 [{'connected_gene': 'XRN1', 'score': 15.43}, {'connected_gene': 'RNF7', 'score': 11.35}, {'connected_gene': 'RASA2', 'score': 9.77}, {'connected_gene': 'ATP1B3', 'score': 7.34}, {'connected_gene': 'GK5', 'score': 5.46}, {'connected_gene': 'ENSG00000279147', 'score': 0.77}, {'connected_gene': 'GC03M141945', 'score': 0.44}]
chr3 GH03I142275 142275092 142277399 1.1 [{'connected_gene': 'XRN1', 'score': 7.54}, {'connected_gene': 'ATP1B3', 'score': 4.55}, {'connected_gene': 'GK5', 'score': 2.75}, {'connected_gene': 'PIR51844', 'score': 0.44}]
chr3 GH03I141795 141795247 141799227 1.14 [{'connected_gene': 'ATP1B3', 'score': 12.12}, {'connected_gene': 'RNF7', 'score': 11.7}, {'connected_gene': 'GRK7', 'score': 10.34}, {'connected_gene': 'RASA2', 'score': 2.9}, {'connected_gene': 'TFDP2', 'score': 1.95}, {'connected_gene': 'GK5', 'score': 1.16}, {'connected_gene': 'PIR31846', 'score': 0.37}, {'connected_gene': 'LOC105374134', 'score': 0.23}]
chr3 GH03I141848 141848986 141849913 0.95 [{'connected_gene': 'ATP1B3', 'score': 18.14}, {'connected_gene': 'RNF7', 'score': 16.67}, {'connected_gene': 'GRK7', 'score': 11.13}, {'connected_gene': 'GK5', 'score': 5.43}, {'connected_gene': 'LOC105374134', 'score': 0.77}, {'connected_gene': 'PIR31846', 'score': 0.2}]
chr3 GH03I141913 141913319 141913468 0.78 [{'connected_gene': 'ATP1B3', 'score': 20.63}, {'connected_gene': 'TRPC1', 'score': 12.53}, {'connected_gene': 'RNF7', 'score': 11.54}, {'connected_gene': 'GRK7', 'score': 10.89}, {'connected_gene': 'RNU6-425P', 'score': 9.95}, {'connected_gene': 'ATP1B3-AS1', 'score': 0.44}, {'connected_gene': 'GC03M141903', 'score': 0.39}, {'connected_gene': 'RNU6-509P', 'score': 0.39}]
chr3 GH03I141874 141874800 141879492 2.01 [{'connected_gene': 'ATP1B3', 'score': 558.84}, {'connected_gene': 'XRN1', 'score': 26.88}, {'connected_gene': 'RASA2', 'score': 18.91}, {'connected_gene': 'ATR', 'score': 12.76}, {'connected_gene': 'GK5', 'score': 7.84}, {'connected_gene': 'GC03P141887', 'score': 0.39}]
chr3 GH03I141854 141854746 141854868 0.34 [{'connected_gene': 'ATP1B3', 'score': 15.5}, {'connected_gene': 'GRK7', 'score': 12.78}, {'connected_gene': 'RNF7', 'score': 11.17}, {'connected_gene': 'RNU6-509P', 'score': 11.01}, {'connected_gene': 'LOC105374134', 'score': 0.77}, {'connected_gene': 'GC03M141866', 'score': 0.39}]
chr3 GH03I142034 142034954 142038199 0.54 [{'connected_gene': 'ATP1B3', 'score': 4.86}, {'connected_gene': 'GRK7', 'score': 4.31}, {'connected_gene': 'RPL19P6', 'score': 0.44}, {'connected_gene': 'PIR46950', 'score': 0.18}, {'connected_gene': 'TFDP2', 'score': 0.14}]
chr3 GH03I141978 141978639 141979652 0.57 [{'connected_gene': 'ATP1B3', 'score': 7.22}, {'connected_gene': 'PIR46950', 'score': 0.31}, {'connected_gene': 'RPL19P6', 'score': 0.2}, {'connected_gene': 'TFDP2', 'score': 0.09}]
chr3 GH03I141880 141880001 141880400 0.38 [{'connected_gene': 'ATP1B3', 'score': 0.77}, {'connected_gene': 'GC03P141887', 'score': 0.44}]
chr3 GH03I141465 141465009 141465850 0.46 [{'connected_gene': 'ZBTB38', 'score': 14.83}, {'connected_gene': 'RASA2', 'score': 13.0}, {'connected_gene': 'ATP1B3', 'score': 10.41}, {'connected_gene': 'RNU6-509P', 'score': 10.41}, {'connected_gene': 'KRT18P35', 'score': 0.44}, {'connected_gene': 'ENSG00000249417', 'score': 0.15}]
chr3 GH03I141828 141828316 141831628 0.86 [{'connected_gene': 'GRK7', 'score': 16.73}, {'connected_gene': 'RNF7', 'score': 16.72}, {'connected_gene': 'ATP1B3', 'score': 12.03}, {'connected_gene': 'LOC105374134', 'score': 0.34}, {'connected_gene': 'PIR31846', 'score': 0.25}]
chr3 GH03I141763 141763333 141763609 0.28 [{'connected_gene': 'GRK7', 'score': 12.82}, {'connected_gene': 'ATP1B3', 'score': 11.99}, {'connected_gene': 'RNU6-509P', 'score': 11.56}, {'connected_gene': 'GC03P141781', 'score': 0.39}, {'connected_gene': 'GC03P141782', 'score': 0.39}]
chr3 GH03I141762 141762801 141763000 0.31 [{'connected_gene': 'GRK7', 'score': 16.57}, {'connected_gene': 'ATP1B3', 'score': 11.99}, {'connected_gene': 'RNU6-509P', 'score': 11.55}, {'connected_gene': 'GC03P141781', 'score': 0.37}, {'connected_gene': 'GC03P141782', 'score': 0.37}]
chr3 GH03I142048 142048269 142049886 0.2 [{'connected_gene': 'RNU6-425P', 'score': 10.97}, {'connected_gene': 'ATP1B3', 'score': 4.87}, {'connected_gene': 'RPL19P6', 'score': 0.77}, {'connected_gene': 'GC03P142146', 'score': 0.15}, {'connected_gene': 'TFDP2', 'score': 0.15}]
chr3 GH03I142045 142045557 142047955 1.32 [{'connected_gene': 'RNU6-425P', 'score': 11.4}, {'connected_gene': 'ATP1B3', 'score': 4.86}, {'connected_gene': 'RPL19P6', 'score': 0.77}, {'connected_gene': 'GC03P142146', 'score': 0.15}, {'connected_gene': 'TFDP2', 'score': 0.15}]
chr3 GH03I141954 141954759 141955767 0.43 [{'connected_gene': 'RNU6-425P', 'score': 10.64}, {'connected_gene': 'ATP1B3', 'score': 7.19}, {'connected_gene': 'PIR46950', 'score': 0.77}, {'connected_gene': 'RPL19P6', 'score': 0.17}, {'connected_gene': 'TFDP2', 'score': 0.08}]
chr3 GH03I142019 142019670 142020600 0.83 [{'connected_gene': 'RNU6-425P', 'score': 11.69}, {'connected_gene': 'GK5', 'score': 11.45}, {'connected_gene': 'ATP1B3', 'score': 6.97}, {'connected_gene': 'RPL19P6', 'score': 0.34}, {'connected_gene': 'PIR46950', 'score': 0.2}, {'connected_gene': 'TFDP2', 'score': 0.13}]
chr3 GH03I141852 141852802 141854000 0.62 [{'connected_gene': 'LOC105374134', 'score': 550.77}, {'connected_gene': 'ATP1B3', 'score': 17.38}, {'connected_gene': 'RNF7', 'score': 11.83}, {'connected_gene': 'GRK7', 'score': 11.7}, {'connected_gene': 'RNU6-509P', 'score': 11.01}, {'connected_gene': 'GC03M141866', 'score': 0.39}]
chr3 GH03I141851 141851539 141851688 0.31 [{'connected_gene': 'LOC105374134', 'score': 550.77}, {'connected_gene': 'ATP1B3', 'score': 12.4}, {'connected_gene': 'RNF7', 'score': 12.12}, {'connected_gene': 'GRK7', 'score': 11.12}, {'connected_gene': 'GC03M141866', 'score': 0.39}]
chr3 GH03I141894 141894899 141895068 0.69 [{'connected_gene': 'ATP1B3-AS1', 'score': 11.26}, {'connected_gene': 'GRK7', 'score': 10.85}, {'connected_gene': 'RNF7', 'score': 10.35}, {'connected_gene': 'GC03M141903', 'score': 0.44}, {'connected_gene': 'RNU6-509P', 'score': 0.44}, {'connected_gene': 'GC03P141887', 'score': 0.44}, {'connected_gene': 'ATP1B3', 'score': 0.37}]
chr3 GH03I142044 142044578 142045311 0.2 [{'connected_gene': 'RPL19P6', 'score': 550.77}, {'connected_gene': 'RNU6-425P', 'score': 11.4}, {'connected_gene': 'ATP1B3', 'score': 4.87}, {'connected_gene': 'GC03P142146', 'score': 0.15}, {'connected_gene': 'TFDP2', 'score': 0.15}]
chr3 GH03I141945 141945423 141946673 0.38 [{'connected_gene': 'GC03M141945', 'score': 550.77}, {'connected_gene': 'ATP1B3', 'score': 7.34}, {'connected_gene': 'ENSG00000279147', 'score': 0.44}, {'connected_gene': 'TFDP2', 'score': 0.08}]
chr3 GH03I141949 141949338 141951584 0.71 [{'connected_gene': 'PIR46950', 'score': 550.77}, {'connected_gene': 'ATP1B3', 'score': 18.93}, {'connected_gene': 'ATP1B3-AS1', 'score': 11.73}, {'connected_gene': 'RNU6-509P', 'score': 11.33}, {'connected_gene': 'GC03M141945', 'score': 0.77}, {'connected_gene': 'TFDP2', 'score': 0.08}]

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