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
ENST00000273598 [[49460378, 49462307], [49462381, 49462486], [49462799, 49462871], [49463315, 49463429], [49463684, 49463861], [49466540, 49466759]] [[49462265, 49462307], [49462381, 49462486], [49462799, 49462871], [49463315, 49463429], [49463684, 49463861], [49466540, 49466672]]
ENST00000423832 [[49460425, 49460996], [49461507, 49462307], [49462381, 49462486], [49462799, 49462871], [49463315, 49463429], [49463684, 49463861], [49466540, 49466741]] [[49462265, 49462307], [49462381, 49462486], [49462799, 49462871], [49463315, 49463429], [49463684, 49463861], [49466540, 49466672]]
ENST00000497742 [[49461507, 49462307], [49462381, 49462871], [49463315, 49463429], [49463684, 49463855], [49466540, 49466708]] None
ENST00000436744 [[49461609, 49462307], [49462381, 49462486], [49462799, 49462871], [49463684, 49463861], [49466540, 49466759]] [[49462265, 49462307], [49462381, 49462486], [49462799, 49462871], [49463684, 49463861], [49466540, 49466672]]
ENST00000422593 [[49462381, 49462579], [49462799, 49462871], [49463315, 49463429], [49463684, 49463861], [49466540, 49466721]] None
ENST00000494057 [[49462704, 49462871], [49463315, 49463429], [49463684, 49463861], [49466540, 49466727]] None
ENST00000461015 [[49462730, 49462871], [49463315, 49463429], [49463684, 49463840]] None
NM_032316 [[49459765, 49462307], [49462381, 49462486], [49462799, 49462871], [49463315, 49463429], [49463684, 49463861], [49466540, 49466757]] [[49462265, 49462307], [49462381, 49462486], [49462799, 49462871], [49463315, 49463429], [49463684, 49463861], [49466540, 49466672]]
Promoter
Chrom Start End Description
chr3 49466686 49466764 CAGE_peak_1_at_NICN1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I049428 49428600 49430376 2.04 [{'connected_gene': 'NICN1', 'score': 550.77}, {'connected_gene': 'ENSG00000283189', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 45.17}, {'connected_gene': 'WDR6', 'score': 14.92}, {'connected_gene': 'IP6K2', 'score': 3.94}, {'connected_gene': 'GC03P049421', 'score': 0.44}, {'connected_gene': 'RNA5SP130', 'score': 0.28}, {'connected_gene': 'GC03M049467', 'score': 0.28}]
chr3 GH03I049429 49428268 49428417 0.54 [{'connected_gene': 'NICN1', 'score': 550.77}, {'connected_gene': 'ENSG00000283189', 'score': 550.77}, {'connected_gene': 'GC03P049421', 'score': 0.44}, {'connected_gene': 'AMT', 'score': 0.44}]
chr3 GH03I049338 49338697 49353402 2.66 [{'connected_gene': 'USP4', 'score': 565.03}, {'connected_gene': 'AMT', 'score': 71.69}, {'connected_gene': 'QRICH1', 'score': 41.08}, {'connected_gene': 'ENSG00000235236', 'score': 38.82}, {'connected_gene': 'RBM6', 'score': 32.91}, {'connected_gene': 'ATRIP', 'score': 29.45}, {'connected_gene': 'RBM5', 'score': 29.3}, {'connected_gene': 'WDR6', 'score': 28.82}, {'connected_gene': 'IP6K2', 'score': 27.4}, {'connected_gene': 'ENSG00000230454', 'score': 23.04}, {'connected_gene': 'DALRD3', 'score': 17.18}, {'connected_gene': 'RHOA', 'score': 16.73}, {'connected_gene': 'NICN1', 'score': 15.66}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.61}, {'connected_gene': 'USP19', 'score': 14.04}, {'connected_gene': 'TCTA', 'score': 12.02}, {'connected_gene': 'FAM212A', 'score': 11.68}, {'connected_gene': 'APEH', 'score': 11.53}, {'connected_gene': 'ENSG00000223343', 'score': 11.11}, {'connected_gene': 'RHOA-IT1', 'score': 11.06}, {'connected_gene': 'NAT6', 'score': 11.0}, {'connected_gene': 'C3orf62', 'score': 10.9}, {'connected_gene': 'IMPDH2', 'score': 10.5}, {'connected_gene': 'NDUFAF3', 'score': 10.5}, {'connected_gene': 'MIR191', 'score': 10.5}, {'connected_gene': 'MIR425', 'score': 10.5}, {'connected_gene': 'P4HTM', 'score': 10.45}, {'connected_gene': 'QARS', 'score': 9.64}, {'connected_gene': 'CDHR4', 'score': 5.64}, {'connected_gene': 'ARIH2', 'score': 3.95}, {'connected_gene': 'MST1', 'score': 3.73}, {'connected_gene': 'IP6K1', 'score': 3.52}, {'connected_gene': 'UBA7', 'score': 2.45}, {'connected_gene': 'GC03M049358', 'score': 0.39}]
chr3 GH03I049016 49016871 49023650 2.31 [{'connected_gene': 'DALRD3', 'score': 560.51}, {'connected_gene': 'GC03M049024', 'score': 550.77}, {'connected_gene': 'NDUFAF3', 'score': 550.77}, {'connected_gene': 'MIR425', 'score': 550.77}, {'connected_gene': 'MIR191', 'score': 550.77}, {'connected_gene': 'WDR6', 'score': 70.97}, {'connected_gene': 'ENSG00000235236', 'score': 54.16}, {'connected_gene': 'NICN1', 'score': 50.24}, {'connected_gene': 'ENSG00000223343', 'score': 41.28}, {'connected_gene': 'P4HTM', 'score': 40.21}, {'connected_gene': 'AMT', 'score': 39.47}, {'connected_gene': 'FCF1P2', 'score': 36.49}, {'connected_gene': 'QRICH1', 'score': 35.58}, {'connected_gene': 'RBM6', 'score': 33.32}, {'connected_gene': 'ZNF589', 'score': 31.51}, {'connected_gene': 'ATRIP', 'score': 27.01}, {'connected_gene': 'CCDC71', 'score': 20.54}, {'connected_gene': 'IP6K2', 'score': 13.52}, {'connected_gene': 'USP19', 'score': 12.5}, {'connected_gene': 'NME6', 'score': 11.81}, {'connected_gene': 'MRPS18AP1', 'score': 11.62}, {'connected_gene': 'ARIH2', 'score': 11.39}, {'connected_gene': 'QARS', 'score': 11.24}, {'connected_gene': 'ARIH2OS', 'score': 11.2}, {'connected_gene': 'TMEM89', 'score': 11.08}, {'connected_gene': 'ENSG00000271973', 'score': 10.17}, {'connected_gene': 'TRAIP', 'score': 9.95}, {'connected_gene': 'IP6K1', 'score': 9.66}, {'connected_gene': 'MST1', 'score': 4.47}]
chr3 GH03I048714 48714858 48718038 2.18 [{'connected_gene': 'IP6K2', 'score': 550.34}, {'connected_gene': 'WDR6', 'score': 35.33}, {'connected_gene': 'NCKIPSD', 'score': 12.61}, {'connected_gene': 'DHX30', 'score': 11.11}, {'connected_gene': 'NICN1', 'score': 10.93}, {'connected_gene': 'PRKAR2A', 'score': 10.54}, {'connected_gene': 'PRKAR2A-AS1', 'score': 10.54}, {'connected_gene': 'ENSG00000235236', 'score': 9.78}, {'connected_gene': 'QARS', 'score': 9.22}, {'connected_gene': 'MST1', 'score': 4.4}]
chr3 GH03I048693 48693532 48696157 1.67 [{'connected_gene': 'IP6K2', 'score': 568.62}, {'connected_gene': 'WDR6', 'score': 32.19}, {'connected_gene': 'COL7A1', 'score': 10.39}, {'connected_gene': 'UCN2', 'score': 10.35}, {'connected_gene': 'PFKFB4', 'score': 10.35}, {'connected_gene': 'PRKAR2A', 'score': 9.91}, {'connected_gene': 'PRKAR2A-AS1', 'score': 9.91}, {'connected_gene': 'QRICH1', 'score': 9.32}, {'connected_gene': 'QARS', 'score': 9.14}, {'connected_gene': 'NCKIPSD', 'score': 6.81}, {'connected_gene': 'NICN1', 'score': 5.53}, {'connected_gene': 'TREX1', 'score': 4.51}]
chr3 GH03I049409 49409349 49418264 2.46 [{'connected_gene': 'RHOA', 'score': 550.77}, {'connected_gene': 'TCTA', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 45.15}, {'connected_gene': 'CCDC71', 'score': 22.23}, {'connected_gene': 'WDR6', 'score': 15.54}, {'connected_gene': 'SEMA3F-AS1', 'score': 15.38}, {'connected_gene': 'QRICH1', 'score': 12.91}, {'connected_gene': 'FAM212A', 'score': 11.87}, {'connected_gene': 'RBM5', 'score': 11.82}, {'connected_gene': 'RNA5SP130', 'score': 11.64}, {'connected_gene': 'DAG1', 'score': 11.64}, {'connected_gene': 'TMEM115', 'score': 11.6}, {'connected_gene': 'USP4', 'score': 11.39}, {'connected_gene': 'KLHDC8B', 'score': 10.49}, {'connected_gene': 'C3orf62', 'score': 10.38}, {'connected_gene': 'LAMB2', 'score': 9.92}, {'connected_gene': 'APEH', 'score': 7.28}, {'connected_gene': 'NICN1', 'score': 6.0}, {'connected_gene': 'MST1', 'score': 3.69}, {'connected_gene': 'GC03P049421', 'score': 0.44}, {'connected_gene': 'ENSG00000283189', 'score': 0.37}]
chr3 GH03I049309 49309625 49309902 0.22 [{'connected_gene': 'C3orf62', 'score': 12.15}, {'connected_gene': 'USP4', 'score': 12.15}, {'connected_gene': 'KLHDC8B', 'score': 11.14}, {'connected_gene': 'CCDC71', 'score': 11.14}, {'connected_gene': 'AMT', 'score': 11.11}, {'connected_gene': 'LAMB2', 'score': 10.41}, {'connected_gene': 'QARS', 'score': 10.34}, {'connected_gene': 'BSN', 'score': 9.95}, {'connected_gene': 'NICN1', 'score': 4.39}]
chr3 GH03I049454 49454292 49456850 1.15 [{'connected_gene': 'APEH', 'score': 11.81}, {'connected_gene': 'FAM212A', 'score': 11.73}, {'connected_gene': 'RNA5SP130', 'score': 0.39}, {'connected_gene': 'GC03M049467', 'score': 0.39}, {'connected_gene': 'NICN1', 'score': 0.31}, {'connected_gene': 'GC03P049421', 'score': 0.29}]
chr3 GH03I049443 49443402 49447067 1.28 [{'connected_gene': 'AMT', 'score': 44.66}, {'connected_gene': 'IP6K2', 'score': 13.74}, {'connected_gene': 'WDR6', 'score': 12.41}, {'connected_gene': 'QRICH1', 'score': 10.71}, {'connected_gene': 'MST1', 'score': 3.48}, {'connected_gene': 'NICN1', 'score': 0.37}, {'connected_gene': 'RNA5SP130', 'score': 0.34}, {'connected_gene': 'GC03P049421', 'score': 0.34}, {'connected_gene': 'GC03M049467', 'score': 0.34}]
chr3 GH03I049458 49458548 49464193 1.22 [{'connected_gene': 'AMT', 'score': 44.98}, {'connected_gene': 'WDR6', 'score': 14.63}, {'connected_gene': 'FAM212A', 'score': 4.68}, {'connected_gene': 'MST1', 'score': 3.71}, {'connected_gene': 'RNA5SP130', 'score': 0.44}, {'connected_gene': 'GC03M049467', 'score': 0.44}, {'connected_gene': 'NICN1', 'score': 0.29}, {'connected_gene': 'GC03P049421', 'score': 0.28}]
chr3 GH03I049420 49420371 49423507 1.87 [{'connected_gene': 'AMT', 'score': 595.49}, {'connected_gene': 'GC03P049421', 'score': 550.77}, {'connected_gene': 'WDR6', 'score': 15.54}, {'connected_gene': 'FAM212A', 'score': 11.8}, {'connected_gene': 'RNA5SP130', 'score': 11.53}, {'connected_gene': 'DAG1', 'score': 11.53}, {'connected_gene': 'LAMB2', 'score': 9.78}, {'connected_gene': 'MST1', 'score': 3.59}, {'connected_gene': 'NICN1', 'score': 0.44}, {'connected_gene': 'ENSG00000283189', 'score': 0.44}]
chr3 GH03I049484 49484271 49486201 1.28 [{'connected_gene': 'AMT', 'score': 63.1}, {'connected_gene': 'ENSG00000235236', 'score': 48.05}, {'connected_gene': 'ENSG00000230454', 'score': 33.13}, {'connected_gene': 'RBM6', 'score': 32.93}, {'connected_gene': 'QRICH1', 'score': 30.62}, {'connected_gene': 'RBM5', 'score': 29.31}, {'connected_gene': 'WDR6', 'score': 28.42}, {'connected_gene': 'IP6K2', 'score': 27.39}, {'connected_gene': 'ENSG00000223343', 'score': 22.26}, {'connected_gene': 'BSN-AS2', 'score': 20.73}, {'connected_gene': 'P4HTM', 'score': 19.28}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.62}, {'connected_gene': 'USP19', 'score': 14.02}, {'connected_gene': 'NICN1', 'score': 12.15}, {'connected_gene': 'FAM212A', 'score': 11.78}, {'connected_gene': 'DALRD3', 'score': 11.2}, {'connected_gene': 'NAT6', 'score': 11.0}, {'connected_gene': 'RHOA-IT1', 'score': 10.85}, {'connected_gene': 'TMEM115', 'score': 10.58}, {'connected_gene': 'BSN', 'score': 10.53}, {'connected_gene': 'BSN-AS1', 'score': 10.43}, {'connected_gene': 'CDHR4', 'score': 3.62}, {'connected_gene': 'DAG1', 'score': 0.37}, {'connected_gene': 'PIR41851', 'score': 0.25}, {'connected_gene': 'GC03P049421', 'score': 0.21}]
chr3 GH03I048593 48593562 48601110 2.11 [{'connected_gene': 'COL7A1', 'score': 550.77}, {'connected_gene': 'WDR6', 'score': 28.77}, {'connected_gene': 'NICN1', 'score': 15.35}, {'connected_gene': 'DHX30', 'score': 12.71}, {'connected_gene': 'FCF1P2', 'score': 12.11}, {'connected_gene': 'ENSG00000235236', 'score': 10.11}, {'connected_gene': 'TMEM89', 'score': 5.71}, {'connected_gene': 'ZNF589', 'score': 4.51}, {'connected_gene': 'LAMB2', 'score': 4.44}, {'connected_gene': 'UQCRC1', 'score': 0.39}]
chr3 GH03I050332 50332973 50342370 2.48 [{'connected_gene': 'RASSF1', 'score': 562.92}, {'connected_gene': 'RASSF1-AS1', 'score': 550.77}, {'connected_gene': 'HYAL3', 'score': 39.23}, {'connected_gene': 'CYB561D2', 'score': 21.55}, {'connected_gene': 'RBM6', 'score': 17.0}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.76}, {'connected_gene': 'NICN1', 'score': 14.15}, {'connected_gene': 'RBM5', 'score': 13.8}, {'connected_gene': 'RHOA-IT1', 'score': 13.55}, {'connected_gene': 'TMEM115', 'score': 13.19}, {'connected_gene': 'IFRD2', 'score': 10.98}, {'connected_gene': 'LSMEM2', 'score': 10.94}, {'connected_gene': 'HEMK1', 'score': 9.72}, {'connected_gene': 'HYAL1', 'score': 8.59}, {'connected_gene': 'SEMA3F', 'score': 4.45}, {'connected_gene': 'ENSG00000230454', 'score': 3.99}, {'connected_gene': 'SEMA3B', 'score': 2.05}, {'connected_gene': 'GC03P050334', 'score': 0.77}, {'connected_gene': 'ZMYND10-AS1', 'score': 0.77}, {'connected_gene': 'ZMYND10', 'score': 0.44}]
chr3 GH03I049265 49265022 49267639 0.72 [{'connected_gene': 'WDR6', 'score': 39.83}, {'connected_gene': 'QRICH1', 'score': 30.92}, {'connected_gene': 'AMT', 'score': 20.71}, {'connected_gene': 'RBM5', 'score': 16.63}, {'connected_gene': 'RBM6', 'score': 16.12}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.61}, {'connected_gene': 'NME6', 'score': 14.28}, {'connected_gene': 'IP6K2', 'score': 14.21}, {'connected_gene': 'USP19', 'score': 14.08}, {'connected_gene': 'ATRIP', 'score': 13.03}, {'connected_gene': 'NICN1', 'score': 12.02}, {'connected_gene': 'ENSG00000235236', 'score': 11.66}, {'connected_gene': 'CCDC36', 'score': 11.53}, {'connected_gene': 'C3orf84', 'score': 11.52}, {'connected_gene': 'KLHDC8B', 'score': 11.17}, {'connected_gene': 'CCDC71', 'score': 11.17}, {'connected_gene': 'ENSG00000223343', 'score': 11.11}, {'connected_gene': 'RHOA-IT1', 'score': 10.87}, {'connected_gene': 'FCF1P2', 'score': 10.76}, {'connected_gene': 'LAMB2', 'score': 10.7}, {'connected_gene': 'RHOA', 'score': 10.48}, {'connected_gene': 'TCTA', 'score': 10.48}, {'connected_gene': 'P4HTM', 'score': 10.45}, {'connected_gene': 'QARS', 'score': 10.18}, {'connected_gene': 'BSN', 'score': 9.37}, {'connected_gene': 'BSN-AS2', 'score': 8.89}, {'connected_gene': 'ENSG00000199546', 'score': 0.77}, {'connected_gene': 'ENSG00000225399', 'score': 0.44}]
chr3 GH03I049320 49320858 49321450 0.41 [{'connected_gene': 'WDR6', 'score': 11.67}, {'connected_gene': 'C3orf62', 'score': 11.63}, {'connected_gene': 'NICN1', 'score': 11.46}, {'connected_gene': 'AMT', 'score': 11.11}, {'connected_gene': 'LAMB2', 'score': 10.43}, {'connected_gene': 'KLHDC8B', 'score': 10.42}, {'connected_gene': 'CCDC71', 'score': 10.42}, {'connected_gene': 'QARS', 'score': 9.9}, {'connected_gene': 'USP4', 'score': 9.57}, {'connected_gene': 'IP6K1', 'score': 4.06}, {'connected_gene': 'ARIH2', 'score': 3.51}, {'connected_gene': 'UBA7', 'score': 2.43}, {'connected_gene': 'NDUFAF3', 'score': 2.29}, {'connected_gene': 'ARIH2OS', 'score': 2.0}, {'connected_gene': 'USP19', 'score': 1.65}, {'connected_gene': 'DALRD3', 'score': 1.47}, {'connected_gene': 'QRICH1', 'score': 1.33}]
chr3 GH03I050356 50356177 50360199 2.03 [{'connected_gene': 'TMEM115', 'score': 550.77}, {'connected_gene': 'GC03P050359', 'score': 550.77}, {'connected_gene': 'NICN1', 'score': 15.35}, {'connected_gene': 'CYB561D2', 'score': 11.82}, {'connected_gene': 'ENSG00000272104', 'score': 0.44}, {'connected_gene': 'NPRL2', 'score': 0.44}]
chr3 GH03I049449 49449000 49449479 1.01 [{'connected_gene': 'RNA5SP130', 'score': 0.37}, {'connected_gene': 'NICN1', 'score': 0.37}, {'connected_gene': 'GC03M049467', 'score': 0.37}, {'connected_gene': 'GC03P049421', 'score': 0.31}]
chr3 GH03I049464 49464636 49467135 1.27 [{'connected_gene': 'RNA5SP130', 'score': 550.77}, {'connected_gene': 'GC03M049467', 'score': 550.77}, {'connected_gene': 'WDR6', 'score': 33.83}, {'connected_gene': 'NICN1', 'score': 16.04}, {'connected_gene': 'ENSG00000223343', 'score': 11.1}, {'connected_gene': 'P4HTM', 'score': 10.44}, {'connected_gene': 'GC03P049421', 'score': 0.26}]
chr3 GH03I049939 49939438 49941450 2.08 [{'connected_gene': 'RBM6', 'score': 596.02}, {'connected_gene': 'NICN1', 'score': 26.24}, {'connected_gene': 'ENSG00000223343', 'score': 11.4}, {'connected_gene': 'P4HTM', 'score': 10.42}, {'connected_gene': 'WDR6', 'score': 10.27}, {'connected_gene': 'ENSG00000235236', 'score': 10.08}, {'connected_gene': 'RBM5', 'score': 0.11}, {'connected_gene': 'GC03P049762', 'score': 0.1}, {'connected_gene': 'GC03P049763', 'score': 0.1}]
chr3 GH03I048971 48971490 48972600 0.2 [{'connected_gene': 'PIR49221', 'score': 550.77}, {'connected_gene': 'WDR6', 'score': 69.31}, {'connected_gene': 'NDUFAF3', 'score': 10.91}, {'connected_gene': 'MIR425', 'score': 10.91}, {'connected_gene': 'MIR191', 'score': 10.91}, {'connected_gene': 'DALRD3', 'score': 10.9}, {'connected_gene': 'IMPDH2', 'score': 10.89}, {'connected_gene': 'QRICH1', 'score': 10.79}, {'connected_gene': 'QARS', 'score': 9.5}, {'connected_gene': 'NICN1', 'score': 5.19}, {'connected_gene': 'PIR60921', 'score': 0.77}, {'connected_gene': 'ARIH2', 'score': 0.23}]

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