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
ENST00000402508 [[48034058, 48035386], [48035467, 48035566], [48036296, 48036405], [48036738, 48036846], [48037454, 48037565], [48040372, 48040516], [48040929, 48041006], [48045917, 48046003], [48046094, 48046217], [48047500, 48047595], [48049356, 48049442], [48050281, 48050499], [48059487, 48059625], [48059710, 48059817], [48059907, 48060019], [48060102, 48060209], [48061717, 48061850], [48061926, 48062010], [48063010, 48063140], [48065997, 48066142], [48066557, 48066639], [48066780, 48066908], [48115764, 48115858]] [[48035256, 48035386], [48035467, 48035566], [48036296, 48036405], [48036738, 48036846], [48037454, 48037565], [48040372, 48040516], [48040929, 48041006], [48045917, 48046003], [48046094, 48046217], [48047500, 48047595], [48049356, 48049442], [48050281, 48050499], [48059487, 48059625], [48059710, 48059817], [48059907, 48060019], [48060102, 48060209], [48061717, 48061850], [48061926, 48062010], [48063010, 48063140], [48065997, 48066142], [48066557, 48066639], [48066780, 48066888]]
ENST00000403359 [[48034058, 48035386], [48035467, 48035566], [48036296, 48036405], [48036738, 48036846], [48037454, 48037565], [48040372, 48040516], [48040929, 48041006], [48045917, 48046003], [48046094, 48046217], [48047500, 48047595], [48049356, 48049442], [48050281, 48050499], [48059487, 48059625], [48059710, 48059817], [48059907, 48060019], [48060102, 48060209], [48061717, 48061850], [48061926, 48062010], [48063010, 48063140], [48065997, 48066142], [48066557, 48066639], [48066780, 48066908], [48132627, 48132932]] [[48035256, 48035386], [48035467, 48035566], [48036296, 48036405], [48036738, 48036846], [48037454, 48037565], [48040372, 48040516], [48040929, 48041006], [48045917, 48046003], [48046094, 48046217], [48047500, 48047595], [48049356, 48049442], [48050281, 48050499], [48059487, 48059625], [48059710, 48059817], [48059907, 48060019], [48060102, 48060209], [48061717, 48061850], [48061926, 48062010], [48063010, 48063140], [48065997, 48066142], [48066557, 48066639], [48066780, 48066908], [48132627, 48132859]]
ENST00000316377 [[48034062, 48035386], [48035467, 48035566], [48036296, 48036405], [48036738, 48036846], [48037454, 48037565], [48040372, 48040516], [48040929, 48041006], [48045917, 48046003], [48046094, 48046217], [48047500, 48047595], [48049356, 48049442], [48050281, 48050499], [48059487, 48059625], [48059710, 48059817], [48059907, 48060019], [48060102, 48060209], [48061717, 48061850], [48061926, 48062010], [48063010, 48063140], [48065997, 48066142], [48066557, 48066639], [48066780, 48066908], [48132627, 48132814]] [[48035256, 48035386], [48035467, 48035566], [48036296, 48036405], [48036738, 48036846], [48037454, 48037565], [48040372, 48040516], [48040929, 48041006], [48045917, 48046003], [48046094, 48046217], [48047500, 48047595], [48049356, 48049442], [48050281, 48050499], [48059487, 48059625], [48059710, 48059817], [48059907, 48060019], [48060102, 48060209], [48061717, 48061850], [48061926, 48062010], [48063010, 48063140], [48065997, 48066142], [48066557, 48066639], [48066780, 48066888]]
ENST00000492225 [[48045555, 48046003], [48046094, 48046217], [48047500, 48047595], [48049356, 48049442], [48050281, 48050499], [48059487, 48059625], [48059710, 48059817], [48059907, 48060019], [48060102, 48060209], [48061717, 48061850], [48061926, 48062010], [48063010, 48063140], [48065997, 48066142], [48066557, 48066639], [48066780, 48066908], [48132627, 48132707]] None
ENST00000424163 [[48063053, 48063140], [48065997, 48066142], [48066557, 48066639], [48066780, 48066908], [48132231, 48132349]] [[48063053, 48063140], [48065997, 48066142], [48066557, 48066639], [48066780, 48066888]]
ENST00000480038 [[48063090, 48063140], [48065997, 48066142], [48066557, 48066639], [48066780, 48066908], [48092930, 48093031], [48115764, 48115858]] None
ENST00000378314 [[48064126, 48064175], [48065997, 48066142], [48066557, 48066639], [48066780, 48066908], [48132627, 48132814]] [[48064126, 48064175], [48065997, 48066142], [48066557, 48066639], [48066780, 48066786]]
ENST00000434234 [[48016454, 48016579], [48035132, 48035386], [48035467, 48035566], [48036296, 48036390]] [[48035256, 48035386], [48035467, 48035566], [48036296, 48036313]]
ENST00000405808 [[48016460, 48016579], [48035333, 48035386], [48035467, 48035566], [48036296, 48036324]] [[48016574, 48016579], [48035333, 48035386], [48035467, 48035566], [48036296, 48036313]]
ENST00000465204 [[48033890, 48035386], [48035467, 48035566], [48036296, 48036405], [48036738, 48036846], [48037454, 48038800]] None
ENST00000434523 [[48034622, 48035386], [48035467, 48035566], [48036296, 48036405], [48036738, 48036846], [48037454, 48037565], [48040372, 48040516], [48040929, 48041006], [48045917, 48046003], [48046094, 48046217], [48049356, 48049442], [48050281, 48050499], [48059487, 48059590]] [[48035256, 48035386], [48035467, 48035566], [48036296, 48036405], [48036738, 48036846], [48037454, 48037565], [48040372, 48040516], [48040929, 48041006], [48045917, 48046003], [48046094, 48046217], [48049356, 48049425]]
ENST00000470899 [[48036368, 48036405], [48036738, 48036846], [48037454, 48037565], [48040372, 48040516], [48040929, 48041437]] None
ENST00000493962 [[48039987, 48040516], [48040929, 48041006], [48045917, 48046003], [48046094, 48046217], [48047500, 48047595], [48049356, 48049442], [48050281, 48050499], [48059487, 48059625], [48059710, 48059817], [48059907, 48060019], [48060102, 48060209], [48061717, 48061850], [48061926, 48062010], [48063010, 48063101]] [[48040286, 48040516], [48040929, 48041006], [48045917, 48046003], [48046094, 48046217], [48047500, 48047595], [48049356, 48049442], [48050281, 48050499], [48059487, 48059625], [48059710, 48059817], [48059907, 48060019], [48060102, 48060209], [48061717, 48061850], [48061926, 48062010], [48063010, 48063101]]
NM_025133 [[48034058, 48035386], [48035467, 48035566], [48036296, 48036405], [48036738, 48036846], [48037454, 48037565], [48040372, 48040516], [48040929, 48041006], [48045917, 48046003], [48046094, 48046217], [48047500, 48047595], [48049356, 48049442], [48050281, 48050499], [48059487, 48059625], [48059710, 48059817], [48059907, 48060019], [48060102, 48060209], [48061717, 48061850], [48061926, 48062010], [48063010, 48063140], [48065997, 48066142], [48066557, 48066639], [48066780, 48066908], [48115764, 48115858]] [[48035256, 48035386], [48035467, 48035566], [48036296, 48036405], [48036738, 48036846], [48037454, 48037565], [48040372, 48040516], [48040929, 48041006], [48045917, 48046003], [48046094, 48046217], [48047500, 48047595], [48049356, 48049442], [48050281, 48050499], [48059487, 48059625], [48059710, 48059817], [48059907, 48060019], [48060102, 48060209], [48061717, 48061850], [48061926, 48062010], [48063010, 48063140], [48065997, 48066142], [48066557, 48066639], [48066780, 48066888]]
NM_001190274 [[48034058, 48035386], [48035467, 48035566], [48036296, 48036405], [48036738, 48036846], [48037454, 48037565], [48040372, 48040516], [48040929, 48041006], [48045917, 48046003], [48046094, 48046217], [48047500, 48047595], [48049356, 48049442], [48050281, 48050499], [48059487, 48059625], [48059710, 48059817], [48059907, 48060019], [48060102, 48060209], [48061717, 48061850], [48061926, 48062010], [48063010, 48063140], [48065997, 48066142], [48066557, 48066639], [48066780, 48066908], [48132627, 48132932]] [[48035256, 48035386], [48035467, 48035566], [48036296, 48036405], [48036738, 48036846], [48037454, 48037565], [48040372, 48040516], [48040929, 48041006], [48045917, 48046003], [48046094, 48046217], [48047500, 48047595], [48049356, 48049442], [48050281, 48050499], [48059487, 48059625], [48059710, 48059817], [48059907, 48060019], [48060102, 48060209], [48061717, 48061850], [48061926, 48062010], [48063010, 48063140], [48065997, 48066142], [48066557, 48066639], [48066780, 48066908], [48132627, 48132859]]
Promoter
Chrom Start End Description
chr2 48132875 48132917 CAGE_peak_2_at_FBXO11_5end
chr2 48132924 48132977 CAGE_peak_3_at_FBXO11_5end
chr2 48133130 48133144 CAGE_peak_8_at_FBXO11_5end
chr2 48133198 48133339 CAGE_peak_1_at_FBXO11_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I047169 47169640 47178063 2.56 [{'connected_gene': 'CALM2', 'score': 561.05}, {'connected_gene': 'MSH6', 'score': 58.45}, {'connected_gene': 'SOCS5', 'score': 31.89}, {'connected_gene': 'ENSG00000225187', 'score': 30.17}, {'connected_gene': 'ENSG00000228925', 'score': 29.79}, {'connected_gene': 'RPL18AP6', 'score': 28.55}, {'connected_gene': 'FBXO11', 'score': 11.42}, {'connected_gene': 'LOC101927043', 'score': 10.15}, {'connected_gene': 'MSH2', 'score': 9.85}, {'connected_gene': 'ATP6V1E2', 'score': 5.22}, {'connected_gene': 'STPG4', 'score': 4.62}]
chr2 GH02I047189 47189109 47195552 1.6 [{'connected_gene': 'FBXO11', 'score': 9.81}, {'connected_gene': 'CALM2', 'score': 0.37}, {'connected_gene': 'LOC105374588', 'score': 0.31}, {'connected_gene': 'LOC101927043', 'score': 0.1}]
chr2 GH02I047887 47887636 47889955 0.88 [{'connected_gene': 'FBXO11', 'score': 550.37}, {'connected_gene': 'MSH6', 'score': 10.69}, {'connected_gene': 'GC02P047883', 'score': 0.44}, {'connected_gene': 'LOC100506235', 'score': 0.37}]
chr2 GH02I047334 47334161 47335671 1.3 [{'connected_gene': 'BCYRN1', 'score': 556.44}, {'connected_gene': 'GC02P047335', 'score': 550.77}, {'connected_gene': 'FBXO11', 'score': 16.6}, {'connected_gene': 'SOCS5', 'score': 16.42}, {'connected_gene': 'MIR559', 'score': 11.24}, {'connected_gene': 'MSH6', 'score': 10.46}, {'connected_gene': 'LOC101927043', 'score': 0.39}, {'connected_gene': 'GC02M047306', 'score': 0.31}]
chr2 GH02I047568 47568303 47568312 0.54 [{'connected_gene': 'KCNK12', 'score': 3.54}, {'connected_gene': 'MSH2', 'score': 1.78}, {'connected_gene': 'MSH6', 'score': 1.26}, {'connected_gene': 'FBXO11', 'score': 1.16}, {'connected_gene': 'PIR54322', 'score': 0.34}]
chr2 GH02I048165 48165396 48165615 0.75 [{'connected_gene': 'FOXN2', 'score': 4.73}, {'connected_gene': 'FBXO11', 'score': 2.68}, {'connected_gene': 'GC02P048218', 'score': 0.23}, {'connected_gene': 'ENSG00000230773', 'score': 0.18}, {'connected_gene': 'GC02P048073', 'score': 0.16}, {'connected_gene': 'LOC105374593', 'score': 0.11}]
chr2 GH02I047268 47268874 47275536 1.72 [{'connected_gene': 'MSH6', 'score': 96.47}, {'connected_gene': 'ENSG00000228925', 'score': 68.67}, {'connected_gene': 'FBXO11', 'score': 29.23}, {'connected_gene': 'ENSG00000233845', 'score': 27.16}, {'connected_gene': 'ENSG00000225187', 'score': 21.06}, {'connected_gene': 'SOCS5', 'score': 20.62}, {'connected_gene': 'MSH2', 'score': 20.2}, {'connected_gene': 'CALM2', 'score': 11.82}, {'connected_gene': 'RPL36AP15', 'score': 11.07}, {'connected_gene': 'RPL18AP6', 'score': 10.67}, {'connected_gene': 'STPG4', 'score': 6.72}, {'connected_gene': 'PIR36995', 'score': 0.44}, {'connected_gene': 'ENSG00000226087', 'score': 0.25}, {'connected_gene': 'LOC101927043', 'score': 0.19}]
chr2 GH02I047781 47781842 47784973 2.04 [{'connected_gene': 'MSH6', 'score': 578.96}, {'connected_gene': 'ENSG00000228925', 'score': 12.1}, {'connected_gene': 'ENSG00000225187', 'score': 10.74}, {'connected_gene': 'FBXO11', 'score': 10.66}, {'connected_gene': 'ENSG00000283502', 'score': 0.77}, {'connected_gene': 'GC02M047790', 'score': 0.44}]
chr2 GH02I047322 47322742 47323970 1.37 [{'connected_gene': 'MSH6', 'score': 33.82}, {'connected_gene': 'TTC7A', 'score': 12.94}, {'connected_gene': 'ENSG00000228925', 'score': 10.68}, {'connected_gene': 'RPL18AP6', 'score': 10.67}, {'connected_gene': 'STPG4', 'score': 10.49}, {'connected_gene': 'SOCS5', 'score': 10.26}, {'connected_gene': 'FBXO11', 'score': 10.16}, {'connected_gene': 'LOC100506142', 'score': 9.83}, {'connected_gene': 'ENSG00000225187', 'score': 9.71}, {'connected_gene': 'LOC101927043', 'score': 4.54}, {'connected_gene': 'GC02P047335', 'score': 0.39}, {'connected_gene': 'GC02M047306', 'score': 0.37}]
chr2 GH02I047895 47895802 47896600 0.43 [{'connected_gene': 'MSH6', 'score': 10.41}, {'connected_gene': 'LOC100506235', 'score': 0.44}, {'connected_gene': 'GC02P047883', 'score': 0.39}, {'connected_gene': 'FBXO11', 'score': 0.39}]
chr2 GH02I047897 47897074 47898893 0.72 [{'connected_gene': 'MSH6', 'score': 10.46}, {'connected_gene': 'LOC100506235', 'score': 0.44}, {'connected_gene': 'FBXO11', 'score': 0.44}, {'connected_gene': 'GC02P047883', 'score': 0.39}]
chr2 GH02I047899 47899871 47900472 0.96 [{'connected_gene': 'MSH6', 'score': 10.25}, {'connected_gene': 'LOC100506235', 'score': 0.44}, {'connected_gene': 'FBXO11', 'score': 0.44}, {'connected_gene': 'GC02P047883', 'score': 0.37}]
chr2 GH02I048105 48105785 48108527 1.18 [{'connected_gene': 'STON1-GTF2A1L', 'score': 12.53}, {'connected_gene': 'LOC100506235', 'score': 12.22}, {'connected_gene': 'FBXO11', 'score': 12.22}, {'connected_gene': 'STON1', 'score': 11.84}, {'connected_gene': 'GTF2A1L', 'score': 11.51}, {'connected_gene': 'FOXN2', 'score': 11.47}, {'connected_gene': 'MSH6', 'score': 11.18}, {'connected_gene': 'PPP1R21', 'score': 11.1}, {'connected_gene': 'RNU6-282P', 'score': 9.44}, {'connected_gene': 'GC02P048073', 'score': 0.29}, {'connected_gene': 'GC02P048218', 'score': 0.14}, {'connected_gene': 'ENSG00000230773', 'score': 0.12}]
chr2 GH02I048145 48145509 48147001 1.45 [{'connected_gene': 'PPP1R21', 'score': 9.59}, {'connected_gene': 'FBXO11', 'score': 6.08}, {'connected_gene': 'FOXN2', 'score': 2.4}, {'connected_gene': 'GC02P048218', 'score': 0.19}, {'connected_gene': 'GC02P048073', 'score': 0.19}, {'connected_gene': 'ENSG00000230773', 'score': 0.16}, {'connected_gene': 'LOC105374593', 'score': 0.1}]
chr2 GH02I048330 48330167 48331314 0.31 [{'connected_gene': 'PPP1R21', 'score': 22.29}, {'connected_gene': 'FBXO11', 'score': 10.19}, {'connected_gene': 'LOC100506235', 'score': 10.19}, {'connected_gene': 'GTF2A1L', 'score': 5.16}, {'connected_gene': 'FOXN2', 'score': 4.61}, {'connected_gene': 'RNU4-49P', 'score': 0.39}, {'connected_gene': 'GC02P048318', 'score': 0.39}, {'connected_gene': 'GC02M048341', 'score': 0.39}]
chr2 GH02I048356 48356202 48357868 1.26 [{'connected_gene': 'PPP1R21', 'score': 17.95}, {'connected_gene': 'FOXN2', 'score': 8.29}, {'connected_gene': 'FBXO11', 'score': 1.81}, {'connected_gene': 'GC02M048365', 'score': 0.39}, {'connected_gene': 'RNU4-49P', 'score': 0.37}, {'connected_gene': 'GC02M048341', 'score': 0.37}]
chr2 GH02I048332 48332259 48332691 1.25 [{'connected_gene': 'PPP1R21', 'score': 10.31}, {'connected_gene': 'LOC100506235', 'score': 10.19}, {'connected_gene': 'FBXO11', 'score': 10.19}, {'connected_gene': 'FOXN2', 'score': 3.96}, {'connected_gene': 'RNU4-49P', 'score': 0.44}, {'connected_gene': 'GC02M048341', 'score': 0.44}, {'connected_gene': 'GC02P048318', 'score': 0.39}]
chr2 GH02I048331 48331601 48331800 0.51 [{'connected_gene': 'PPP1R21', 'score': 10.31}, {'connected_gene': 'LOC100506235', 'score': 10.19}, {'connected_gene': 'FBXO11', 'score': 10.19}, {'connected_gene': 'RNU4-49P', 'score': 0.44}, {'connected_gene': 'GC02M048341', 'score': 0.44}, {'connected_gene': 'GC02P048318', 'score': 0.39}, {'connected_gene': 'FOXN2', 'score': 0.37}]
chr2 GH02I048333 48333419 48335031 0.38 [{'connected_gene': 'PPP1R21', 'score': 27.43}, {'connected_gene': 'LOC100506235', 'score': 10.19}, {'connected_gene': 'FBXO11', 'score': 10.19}, {'connected_gene': 'RNU4-49P', 'score': 0.44}, {'connected_gene': 'GC02M048341', 'score': 0.44}, {'connected_gene': 'FOXN2', 'score': 0.37}, {'connected_gene': 'GC02P048318', 'score': 0.37}]
chr2 GH02I047869 47869522 47870625 0.2 [{'connected_gene': 'LOC100506235', 'score': 12.06}, {'connected_gene': 'FBXO11', 'score': 12.06}, {'connected_gene': 'MSH6', 'score': 4.41}, {'connected_gene': 'RPS27AP7', 'score': 0.39}, {'connected_gene': 'GC02P047850', 'score': 0.37}]
chr2 GH02I047903 47903203 47908028 2.29 [{'connected_gene': 'LOC100506235', 'score': 550.77}, {'connected_gene': 'FBXO11', 'score': 550.77}, {'connected_gene': 'MSH6', 'score': 10.27}, {'connected_gene': 'GC02P047883', 'score': 0.34}]
chr2 GH02I047865 47865201 47865400 0.2 [{'connected_gene': 'LOC100506235', 'score': 11.99}, {'connected_gene': 'FBXO11', 'score': 11.99}, {'connected_gene': 'PPP1R21', 'score': 10.28}, {'connected_gene': 'GC02P047850', 'score': 0.39}, {'connected_gene': 'RPS27AP7', 'score': 0.37}]
chr2 GH02I047866 47866601 47869095 0.72 [{'connected_gene': 'LOC100506235', 'score': 12.06}, {'connected_gene': 'FBXO11', 'score': 12.06}, {'connected_gene': 'PPP1R21', 'score': 10.46}, {'connected_gene': 'MSH6', 'score': 6.78}, {'connected_gene': 'RPS27AP7', 'score': 0.37}, {'connected_gene': 'GC02P047850', 'score': 0.37}]
chr2 GH02I047867 47866001 47866200 0.2 [{'connected_gene': 'LOC100506235', 'score': 12.01}, {'connected_gene': 'FBXO11', 'score': 11.99}, {'connected_gene': 'PPP1R21', 'score': 10.29}, {'connected_gene': 'MSH6', 'score': 4.45}, {'connected_gene': 'RPS27AP7', 'score': 0.37}, {'connected_gene': 'GC02P047850', 'score': 0.37}]
chr2 GH02I047902 47902544 47902755 0.43 [{'connected_gene': 'LOC100506235', 'score': 0.77}, {'connected_gene': 'FBXO11', 'score': 0.77}, {'connected_gene': 'GC02P047883', 'score': 0.37}]
chr2 GH02I047807 47807452 47807783 0.51 [{'connected_gene': 'RPL36AP15', 'score': 0.44}, {'connected_gene': 'GC02M047830', 'score': 0.31}, {'connected_gene': 'FBXO11', 'score': 0.15}, {'connected_gene': 'MSH6', 'score': 0.14}]
chr2 GH02I047791 47791040 47791099 0.5 [{'connected_gene': 'GC02M047790', 'score': 550.77}, {'connected_gene': 'MSH6', 'score': 550.15}, {'connected_gene': 'ENSG00000283502', 'score': 0.44}, {'connected_gene': 'FBXO11', 'score': 0.13}]
chr2 GH02I048447 48447987 48452391 1.32 [{'connected_gene': 'PIR50991', 'score': 550.77}, {'connected_gene': 'GC02M048449', 'score': 550.77}, {'connected_gene': 'RNU6-282P', 'score': 11.08}, {'connected_gene': 'STON1', 'score': 10.37}, {'connected_gene': 'STON1-GTF2A1L', 'score': 10.37}, {'connected_gene': 'LOC100506235', 'score': 9.59}, {'connected_gene': 'FBXO11', 'score': 9.59}, {'connected_gene': 'PPP1R21', 'score': 8.19}, {'connected_gene': 'GC02M048450', 'score': 0.44}, {'connected_gene': 'GC02P048370', 'score': 0.18}]
chr2 GH02I047890 47890864 47891007 0.33 [{'connected_gene': 'GC02P047883', 'score': 0.44}, {'connected_gene': 'LOC100506235', 'score': 0.39}, {'connected_gene': 'FBXO11', 'score': 0.37}]
chr2 GH02I047798 47798471 47799565 0.46 [{'connected_gene': 'GC02M047798', 'score': 550.77}, {'connected_gene': 'RPL36AP15', 'score': 550.77}, {'connected_gene': 'MSH6', 'score': 6.83}, {'connected_gene': 'GC02M047830', 'score': 0.28}, {'connected_gene': 'FBXO11', 'score': 0.14}]

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