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
ENST00000289805 [[89762750, 89764713], [89767337, 89767641], [89768035, 89768103]] [[89763741, 89764713]]
ENST00000335360 [[89762764, 89763272], [89764602, 89764713], [89767337, 89767641], [89768035, 89768113]] [[89763227, 89763272], [89764602, 89764713]]
ENST00000569918 [[89764475, 89764713], [89767337, 89767641], [89767898, 89768048]] [[89764475, 89764713]]
NM_152339 [[89762764, 89764713], [89767337, 89767641], [89768035, 89768121]] [[89763741, 89764713]]
Promoter
Chrom Start End Description
chr16 89768035 89768046 CAGE_peak_3_at_SPATA2L_5end
chr16 89768050 89768060 CAGE_peak_4_at_SPATA2L_5end
chr16 89768063 89768086 CAGE_peak_2_at_SPATA2L_5end
chr16 89768097 89768126 CAGE_peak_1_at_SPATA2L_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I089705 89705916 89706925 1.09 [{'connected_gene': 'CDK10', 'score': 23.21}, {'connected_gene': 'GAS8-AS1', 'score': 11.91}, {'connected_gene': 'SPIRE2', 'score': 7.18}, {'connected_gene': 'SPATA2L', 'score': 0.77}, {'connected_gene': 'VPS9D1-AS1', 'score': 0.44}]
chr16 GH16I089848 89848979 89849755 0.2 [{'connected_gene': 'CDK10', 'score': 13.9}, {'connected_gene': 'FANCA', 'score': 12.49}, {'connected_gene': 'SPATA2L', 'score': 11.99}, {'connected_gene': 'VPS9D1', 'score': 11.72}, {'connected_gene': 'ZNF276', 'score': 11.72}, {'connected_gene': 'LOC105371419', 'score': 0.77}, {'connected_gene': 'SPIRE2', 'score': 0.29}]
chr16 GH16I089844 89844769 89845322 0.31 [{'connected_gene': 'CDK10', 'score': 13.84}, {'connected_gene': 'FANCA', 'score': 12.51}, {'connected_gene': 'SPATA2L', 'score': 11.99}, {'connected_gene': 'VPS9D1', 'score': 11.72}, {'connected_gene': 'ZNF276', 'score': 11.72}, {'connected_gene': 'LOC105371419', 'score': 0.44}, {'connected_gene': 'SPIRE2', 'score': 0.31}]
chr16 GH16I090076 90076893 90078800 1.43 [{'connected_gene': 'CDK10', 'score': 19.75}, {'connected_gene': 'ZNF778', 'score': 15.19}, {'connected_gene': 'ENSG00000261172', 'score': 11.94}, {'connected_gene': 'SPATA2L', 'score': 2.24}, {'connected_gene': 'ZNF276', 'score': 1.98}, {'connected_gene': 'TCF25', 'score': 1.93}, {'connected_gene': 'VPS9D1', 'score': 1.85}, {'connected_gene': 'SPATA33', 'score': 1.11}, {'connected_gene': 'PRDM7', 'score': 0.39}, {'connected_gene': 'URAHP', 'score': 0.29}]
chr16 GH16I089804 89804566 89806322 0.43 [{'connected_gene': 'SPIRE2', 'score': 23.75}, {'connected_gene': 'SPATA2L', 'score': 12.59}, {'connected_gene': 'VPS9D1', 'score': 11.48}, {'connected_gene': 'ZNF276', 'score': 11.47}, {'connected_gene': 'CDK10', 'score': 11.13}, {'connected_gene': 'FANCA', 'score': 7.38}, {'connected_gene': 'RPL13', 'score': 6.76}, {'connected_gene': 'VPS9D1-AS1', 'score': 5.97}, {'connected_gene': 'PIR55781', 'score': 0.2}]
chr16 GH16I089533 89533348 89535956 1.09 [{'connected_gene': 'SPG7', 'score': 22.12}, {'connected_gene': 'RPL13', 'score': 17.49}, {'connected_gene': 'DBNDD1', 'score': 11.74}, {'connected_gene': 'ZNF276', 'score': 2.78}, {'connected_gene': 'SPATA2L', 'score': 1.25}, {'connected_gene': 'PIR57136', 'score': 0.44}, {'connected_gene': 'ENSG00000274627', 'score': 0.37}]
chr16 GH16I089503 89503933 89510033 2.63 [{'connected_gene': 'SPG7', 'score': 585.01}, {'connected_gene': 'LOC101927863', 'score': 571.5}, {'connected_gene': 'AFG3L1P', 'score': 27.51}, {'connected_gene': 'MC1R', 'score': 27.37}, {'connected_gene': 'RPL13', 'score': 26.38}, {'connected_gene': 'ENSG00000268218', 'score': 25.36}, {'connected_gene': 'ANKRD11', 'score': 23.61}, {'connected_gene': 'ZC3H18', 'score': 22.96}, {'connected_gene': 'TCF25', 'score': 21.0}, {'connected_gene': 'ACSF3', 'score': 17.93}, {'connected_gene': 'SNORD68', 'score': 12.77}, {'connected_gene': 'ENSG00000259877', 'score': 12.59}, {'connected_gene': 'RNU6-430P', 'score': 11.79}, {'connected_gene': 'GAS8', 'score': 11.59}, {'connected_gene': 'ENSG00000260279', 'score': 11.17}, {'connected_gene': 'GALNS', 'score': 10.98}, {'connected_gene': 'CHMP1A', 'score': 10.25}, {'connected_gene': 'APRT', 'score': 10.0}, {'connected_gene': 'URAHP', 'score': 9.66}, {'connected_gene': 'DBNDD1', 'score': 7.1}, {'connected_gene': 'ZNF276', 'score': 5.19}, {'connected_gene': 'SPATA2L', 'score': 3.49}, {'connected_gene': 'ENSG00000274627', 'score': 0.44}]
chr16 GH16I089480 89480739 89492768 2.86 [{'connected_gene': 'ANKRD11', 'score': 568.63}, {'connected_gene': 'SPG7', 'score': 27.92}, {'connected_gene': 'ZNF778', 'score': 26.19}, {'connected_gene': 'ZC3H18', 'score': 22.72}, {'connected_gene': 'AFG3L1P', 'score': 21.27}, {'connected_gene': 'MC1R', 'score': 20.16}, {'connected_gene': 'ENSG00000259877', 'score': 17.22}, {'connected_gene': 'RPL13', 'score': 16.64}, {'connected_gene': 'TCF25', 'score': 14.7}, {'connected_gene': 'RNU6-430P', 'score': 12.38}, {'connected_gene': 'SNORD68', 'score': 12.14}, {'connected_gene': 'ENSG00000260121', 'score': 11.41}, {'connected_gene': 'CTU2', 'score': 11.32}, {'connected_gene': 'GAS8', 'score': 10.51}, {'connected_gene': 'ZNF276', 'score': 10.12}, {'connected_gene': 'SPATA2L', 'score': 7.84}, {'connected_gene': 'VPS9D1', 'score': 1.37}, {'connected_gene': 'CHMP1A', 'score': 1.33}, {'connected_gene': 'LOC101930112', 'score': 0.77}, {'connected_gene': 'LOC101927863', 'score': 0.37}, {'connected_gene': 'LOC100130664', 'score': 0.31}]
chr16 GH16I089313 89313322 89327885 2.44 [{'connected_gene': 'ANKRD11', 'score': 556.99}, {'connected_gene': 'LOC100287036', 'score': 556.62}, {'connected_gene': 'ZC3H18', 'score': 10.4}, {'connected_gene': 'CDK10', 'score': 8.76}, {'connected_gene': 'DBNDD1', 'score': 7.22}, {'connected_gene': 'ZNF276', 'score': 7.15}, {'connected_gene': 'SPG7', 'score': 6.54}, {'connected_gene': 'SNAI3', 'score': 5.95}, {'connected_gene': 'GAS8-AS1', 'score': 5.54}, {'connected_gene': 'TUBB3', 'score': 4.69}, {'connected_gene': 'RPL13', 'score': 4.59}, {'connected_gene': 'SLC22A31', 'score': 4.57}, {'connected_gene': 'SPATA2L', 'score': 2.35}, {'connected_gene': 'ZNF778', 'score': 2.13}, {'connected_gene': 'VPS9D1', 'score': 1.77}, {'connected_gene': 'ENSG00000260279', 'score': 0.34}]
chr16 GH16I089763 89763236 89766107 1.02 [{'connected_gene': 'FANCA', 'score': 28.94}, {'connected_gene': 'CDK10', 'score': 23.89}, {'connected_gene': 'SPIRE2', 'score': 18.48}, {'connected_gene': 'VPS9D1', 'score': 12.89}, {'connected_gene': 'ZNF276', 'score': 12.89}, {'connected_gene': 'SPATA2L', 'score': 12.06}, {'connected_gene': 'GAS8', 'score': 7.15}, {'connected_gene': 'PIR55781', 'score': 0.34}]
chr16 GH16I089760 89760462 89762711 0.58 [{'connected_gene': 'FANCA', 'score': 26.06}, {'connected_gene': 'CDK10', 'score': 23.87}, {'connected_gene': 'SPIRE2', 'score': 20.51}, {'connected_gene': 'GALNS', 'score': 12.9}, {'connected_gene': 'VPS9D1', 'score': 12.89}, {'connected_gene': 'ZNF276', 'score': 12.89}, {'connected_gene': 'CHMP1A', 'score': 12.28}, {'connected_gene': 'LOC101927863', 'score': 12.17}, {'connected_gene': 'SPATA2L', 'score': 12.08}, {'connected_gene': 'TCF25', 'score': 11.05}, {'connected_gene': 'ANKRD11', 'score': 9.94}, {'connected_gene': 'DBNDD1', 'score': 7.98}, {'connected_gene': 'PIR55781', 'score': 0.34}]
chr16 GH16I089846 89846783 89848310 0.83 [{'connected_gene': 'FANCA', 'score': 25.06}, {'connected_gene': 'SPIRE2', 'score': 17.61}, {'connected_gene': 'DBNDD1', 'score': 16.14}, {'connected_gene': 'CDK10', 'score': 13.72}, {'connected_gene': 'SPATA2L', 'score': 11.99}, {'connected_gene': 'VPS9D1', 'score': 11.72}, {'connected_gene': 'ZNF276', 'score': 11.72}, {'connected_gene': 'LOC105371419', 'score': 0.44}]
chr16 GH16I089845 89845453 89845840 0.6 [{'connected_gene': 'FANCA', 'score': 22.65}, {'connected_gene': 'SPIRE2', 'score': 17.72}, {'connected_gene': 'SPATA2L', 'score': 11.99}, {'connected_gene': 'ZNF276', 'score': 11.72}, {'connected_gene': 'VPS9D1', 'score': 11.72}, {'connected_gene': 'LOC105371419', 'score': 0.44}]
chr16 GH16I089405 89405253 89412400 1.5 [{'connected_gene': 'AFG3L1P', 'score': 19.31}, {'connected_gene': 'ANKRD11', 'score': 17.71}, {'connected_gene': 'SPG7', 'score': 17.17}, {'connected_gene': 'MC1R', 'score': 15.04}, {'connected_gene': 'LOC101927863', 'score': 14.88}, {'connected_gene': 'RNU6-430P', 'score': 12.89}, {'connected_gene': 'ENSG00000259877', 'score': 12.15}, {'connected_gene': 'TCF25', 'score': 11.69}, {'connected_gene': 'URAHP', 'score': 11.66}, {'connected_gene': 'CDK10', 'score': 11.63}, {'connected_gene': 'ENSG00000268218', 'score': 11.48}, {'connected_gene': 'ENSG00000260279', 'score': 10.13}, {'connected_gene': 'ZNF276', 'score': 6.43}, {'connected_gene': 'SPATA2L', 'score': 2.67}, {'connected_gene': 'ACSF3', 'score': 1.76}, {'connected_gene': 'CBFA2T3', 'score': 1.7}, {'connected_gene': 'ZNF778', 'score': 1.55}, {'connected_gene': 'ENSG00000261574', 'score': 0.77}, {'connected_gene': 'PIR42684', 'score': 0.37}]
chr16 GH16I089699 89699725 89702671 2.1 [{'connected_gene': 'SPATA2L', 'score': 550.77}, {'connected_gene': 'CDK10', 'score': 19.91}, {'connected_gene': 'CHMP1A', 'score': 13.63}, {'connected_gene': 'ACSF3', 'score': 13.22}, {'connected_gene': 'ANKRD11', 'score': 13.0}, {'connected_gene': 'ZNF778', 'score': 12.22}, {'connected_gene': 'GALNS', 'score': 11.89}, {'connected_gene': 'TCF25', 'score': 11.07}, {'connected_gene': 'SNORD68', 'score': 10.74}, {'connected_gene': 'ENSG00000268218', 'score': 10.73}, {'connected_gene': 'LOC101927863', 'score': 10.62}, {'connected_gene': 'MC1R', 'score': 10.3}, {'connected_gene': 'AFG3L1P', 'score': 10.06}, {'connected_gene': 'PIR59284', 'score': 0.77}]
chr16 GH16I089842 89842362 89843842 1.25 [{'connected_gene': 'SPATA2L', 'score': 17.89}, {'connected_gene': 'SPIRE2', 'score': 17.79}, {'connected_gene': 'CDK10', 'score': 13.99}, {'connected_gene': 'FANCA', 'score': 12.51}, {'connected_gene': 'VPS9D1', 'score': 11.83}, {'connected_gene': 'ZNF276', 'score': 11.83}, {'connected_gene': 'LOC105371419', 'score': 0.39}]
chr16 GH16I089384 89384608 89384909 0.7 [{'connected_gene': 'RNU6-430P', 'score': 12.29}, {'connected_gene': 'ANKRD11', 'score': 5.11}, {'connected_gene': 'ZNF276', 'score': 4.07}, {'connected_gene': 'CBFA2T3', 'score': 3.16}, {'connected_gene': 'SPATA2L', 'score': 2.9}, {'connected_gene': 'TCF25', 'score': 2.48}, {'connected_gene': 'SPG7', 'score': 1.45}, {'connected_gene': 'ZNF778', 'score': 1.39}, {'connected_gene': 'ACSF3', 'score': 1.18}, {'connected_gene': 'PIR42684', 'score': 0.44}, {'connected_gene': 'PIR55522', 'score': 0.39}]
chr16 GH16I089356 89356730 89366043 1.59 [{'connected_gene': 'RNU6-430P', 'score': 12.16}, {'connected_gene': 'ANKRD11', 'score': 8.13}, {'connected_gene': 'SPG7', 'score': 6.9}, {'connected_gene': 'ZNF276', 'score': 3.7}, {'connected_gene': 'SPATA2L', 'score': 3.11}, {'connected_gene': 'CBFA2T3', 'score': 2.97}, {'connected_gene': 'PIR55522', 'score': 0.39}, {'connected_gene': 'LOC100287036', 'score': 0.26}]
chr16 GH16I089710 89710652 89710685 0.2 [{'connected_gene': 'VPS9D1-AS1', 'score': 550.77}, {'connected_gene': 'CDK10', 'score': 11.69}, {'connected_gene': 'SPATA2L', 'score': 0.44}, {'connected_gene': 'VPS9D1', 'score': 0.39}]
chr16 GH16I088981 88981574 88984721 1.18 [{'connected_gene': 'ENSG00000259989', 'score': 550.77}, {'connected_gene': 'CDK10', 'score': 5.65}, {'connected_gene': 'RNF166', 'score': 5.65}, {'connected_gene': 'ACSF3', 'score': 5.2}, {'connected_gene': 'SNAI3-AS1', 'score': 5.08}, {'connected_gene': 'SPATA2L', 'score': 4.32}, {'connected_gene': 'SPIRE2', 'score': 4.32}, {'connected_gene': 'CBFA2T3', 'score': 3.76}]
chr16 GH16I089696 89696493 89697331 0.59 [{'connected_gene': 'PIR59284', 'score': 550.77}, {'connected_gene': 'CDK10', 'score': 12.91}, {'connected_gene': 'LINC02166', 'score': 11.23}, {'connected_gene': 'SPATA2L', 'score': 0.77}]
chr16 GH16I089421 89421796 89424233 1.58 [{'connected_gene': 'ENSG00000261692', 'score': 550.77}, {'connected_gene': 'ANKRD11', 'score': 6.42}, {'connected_gene': 'TCF25', 'score': 4.53}, {'connected_gene': 'ZNF276', 'score': 2.41}, {'connected_gene': 'SPATA2L', 'score': 1.55}, {'connected_gene': 'VPS9D1', 'score': 1.45}, {'connected_gene': 'LOC101927817', 'score': 0.44}]

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