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
ENST00000372621 [[41445006, 41445501], [41448949, 41449128], [41450492, 41450663], [41453043, 41453144], [41454265, 41454382], [41456836, 41456920], [41457436, 41457517], [41461588, 41461740], [41463065, 41463198], [41466700, 41466789], [41467831, 41467926], [41468785, 41468848], [41471722, 41471766], [41473120, 41473217], [41474330, 41474386], [41474465, 41474562], [41475116, 41475261], [41475832, 41475926], [41477329, 41478235]] [[41448962, 41449128], [41450492, 41450663], [41453043, 41453144], [41454265, 41454382], [41456836, 41456920], [41457436, 41457517], [41461588, 41461740], [41463065, 41463198], [41466700, 41466789], [41467831, 41467926], [41468785, 41468848], [41471722, 41471766], [41473120, 41473217], [41474330, 41474386], [41474465, 41474562], [41475116, 41475261], [41475832, 41475917]]
ENST00000541520 [[41445426, 41445501], [41456836, 41456920], [41457436, 41457517], [41461588, 41461740], [41463065, 41463198], [41466700, 41466789], [41467831, 41467926], [41468785, 41468848], [41471722, 41471766], [41473120, 41473217], [41474330, 41474386], [41474465, 41474562], [41475116, 41475261], [41475832, 41475926], [41477329, 41477736]] [[41457490, 41457517], [41461588, 41461740], [41463065, 41463198], [41466700, 41466789], [41467831, 41467926], [41468785, 41468848], [41471722, 41471766], [41473120, 41473217], [41474330, 41474386], [41474465, 41474562], [41475116, 41475261], [41475832, 41475917]]
ENST00000470271 [[41445779, 41446233], [41448949, 41449128], [41450492, 41450660]] None
ENST00000475060 [[41446256, 41446901], [41448949, 41449117]] None
ENST00000479480 [[41447598, 41447666], [41448949, 41449128], [41450492, 41450663], [41453043, 41453144], [41454265, 41454382], [41456836, 41456920], [41457436, 41457493]] None
ENST00000543104 [[41447608, 41447666], [41448949, 41449128], [41450492, 41450663], [41453043, 41453144], [41454265, 41454382], [41456836, 41456920], [41457436, 41457517], [41461588, 41462029]] [[41447658, 41447666], [41448949, 41449128], [41450492, 41450663], [41453043, 41453144], [41454265, 41454382], [41456836, 41456920], [41457436, 41457517], [41461588, 41461792]]
ENST00000372616 [[41448832, 41449128], [41450492, 41450663], [41453043, 41453144], [41454265, 41454382], [41456836, 41456920], [41457436, 41457517], [41461588, 41461740], [41463065, 41463198], [41466700, 41466789], [41467831, 41467926], [41468785, 41468848], [41471722, 41471766], [41473120, 41473217], [41474330, 41474386], [41474465, 41474562], [41475116, 41475261], [41475832, 41475926], [41477329, 41477451]] [[41448962, 41449128], [41450492, 41450663], [41453043, 41453144], [41454265, 41454382], [41456836, 41456920], [41457436, 41457517], [41461588, 41461740], [41463065, 41463198], [41466700, 41466789], [41467831, 41467926], [41468785, 41468848], [41471722, 41471766], [41473120, 41473217], [41474330, 41474386], [41474465, 41474562], [41475116, 41475261], [41475832, 41475917]]
ENST00000480420 [[41454168, 41454382], [41456836, 41456920], [41457436, 41457517], [41461588, 41461740], [41463065, 41463198], [41466700, 41466786]] None
ENST00000463285 [[41461651, 41461740], [41463065, 41463198], [41466700, 41466789], [41467831, 41467926], [41468785, 41468848], [41469652, 41469922]] None
ENST00000486889 [[41462796, 41463198], [41466700, 41466789], [41467831, 41467908]] None
ENST00000497210 [[41466484, 41466789], [41467831, 41467926], [41468785, 41468848]] None
ENST00000464283 [[41467210, 41467256], [41467831, 41467926], [41468785, 41468848], [41471722, 41471766], [41473120, 41473217], [41474330, 41474386], [41474465, 41474562], [41475116, 41475261]] None
ENST00000463423 [[41468827, 41468848], [41471722, 41471766], [41474330, 41474386], [41474465, 41474562], [41475116, 41475261], [41475832, 41475926]] None
ENST00000498694 [[41471735, 41471766], [41474330, 41474562], [41475116, 41475261], [41475832, 41475926], [41477329, 41477426]] None
NM_001905 [[41444970, 41445501], [41448949, 41449128], [41450492, 41450663], [41453043, 41453144], [41454265, 41454382], [41456836, 41456920], [41457436, 41457517], [41461588, 41461740], [41463065, 41463198], [41466700, 41466789], [41467831, 41467926], [41468785, 41468848], [41471722, 41471766], [41473120, 41473217], [41474330, 41474386], [41474465, 41474562], [41475116, 41475261], [41475832, 41475926], [41477329, 41478237]] [[41448962, 41449128], [41450492, 41450663], [41453043, 41453144], [41454265, 41454382], [41456836, 41456920], [41457436, 41457517], [41461588, 41461740], [41463065, 41463198], [41466700, 41466789], [41467831, 41467926], [41468785, 41468848], [41471722, 41471766], [41473120, 41473217], [41474330, 41474386], [41474465, 41474562], [41475116, 41475261], [41475832, 41475917]]
NR_125440 [[41444970, 41445501], [41448949, 41449128], [41450492, 41450663], [41453043, 41453144], [41454265, 41454382], [41456836, 41456920], [41457436, 41457517], [41461588, 41461740], [41463065, 41463198], [41466700, 41466789], [41467831, 41467926], [41468785, 41468848], [41471722, 41471766], [41473120, 41473217], [41474330, 41474562], [41475116, 41475261], [41475832, 41475926], [41477329, 41478237]] None
NM_001301237 [[41454119, 41454382], [41456836, 41456920], [41457436, 41457517], [41461588, 41461740], [41463065, 41463198], [41466700, 41466789], [41467831, 41467926], [41468785, 41468848], [41471722, 41471766], [41473120, 41473217], [41474330, 41474386], [41474465, 41474562], [41475116, 41475261], [41475832, 41475926], [41477329, 41478237]] [[41454295, 41454382], [41456836, 41456920], [41457436, 41457517], [41461588, 41461740], [41463065, 41463198], [41466700, 41466789], [41467831, 41467926], [41468785, 41468848], [41471722, 41471766], [41473120, 41473217], [41474330, 41474386], [41474465, 41474562], [41475116, 41475261], [41475832, 41475917]]
Promoter
Chrom Start End Description
chr1 41445331 41445397 CAGE_peak_1_at_CTPS_5end
chr1 41445413 41445435 CAGE_peak_2_at_CTPS_5end
chr1 41445667 41445707 CAGE_peak_3_at_CTPS_5end
chr1 41445715 41445735 CAGE_peak_4_at_CTPS_5end
chr1 41448820 41448825 CAGE_peak_13_at_CTPS_5end
chr1 41454160 41454176 CAGE_peak_6_at_CTPS_5end
chr1 41454185 41454224 CAGE_peak_5_at_CTPS_5end
chr1 41454226 41454235 CAGE_peak_17_at_CTPS_5end
chr1 41454251 41454260 CAGE_peak_21_at_CTPS_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I040372 40372899 40378806 2.61 [{'connected_gene': 'SMAP2', 'score': 589.58}, {'connected_gene': 'PPIEL', 'score': 64.51}, {'connected_gene': 'EXO5', 'score': 45.96}, {'connected_gene': 'PPIE', 'score': 43.56}, {'connected_gene': 'TRIT1', 'score': 42.92}, {'connected_gene': 'ENSG00000259943', 'score': 32.57}, {'connected_gene': 'ENSG00000182109', 'score': 29.52}, {'connected_gene': 'NFYC-AS1', 'score': 21.73}, {'connected_gene': 'RLF', 'score': 15.03}, {'connected_gene': 'NFYC', 'score': 13.28}, {'connected_gene': 'ZFP69', 'score': 13.11}, {'connected_gene': 'SLFNL1', 'score': 12.85}, {'connected_gene': 'PABPC4', 'score': 12.29}, {'connected_gene': 'SCMH1', 'score': 11.53}, {'connected_gene': 'LOC105378672', 'score': 11.34}, {'connected_gene': 'TMCO2', 'score': 10.78}, {'connected_gene': 'LOC101929516', 'score': 10.65}, {'connected_gene': 'ENSG00000231296', 'score': 10.62}, {'connected_gene': 'ZMPSTE24', 'score': 10.62}, {'connected_gene': 'RIMS3', 'score': 10.25}, {'connected_gene': 'CTPS1', 'score': 9.97}, {'connected_gene': 'OXCT2P1', 'score': 9.92}, {'connected_gene': 'GC01M040364', 'score': 0.44}, {'connected_gene': 'GC01P040432', 'score': 0.22}]
chr1 GH01I041100 41100803 41102949 0.79 [{'connected_gene': 'SLFNL1', 'score': 10.93}, {'connected_gene': 'CTPS1', 'score': 8.92}, {'connected_gene': 'SCMH1', 'score': 7.47}, {'connected_gene': 'RPL23AP17', 'score': 0.77}, {'connected_gene': 'GC01M041130', 'score': 0.31}]
chr1 GH01I040936 40936498 40937904 0.46 [{'connected_gene': 'CTPS1', 'score': 11.73}, {'connected_gene': 'MIR30C1', 'score': 9.93}, {'connected_gene': 'MIR30E', 'score': 9.93}, {'connected_gene': 'NFYC', 'score': 9.9}, {'connected_gene': 'LOC100128362', 'score': 0.77}, {'connected_gene': 'PIR51186', 'score': 0.28}, {'connected_gene': 'GC01M040907', 'score': 0.26}]
chr1 GH01I040976 40976140 40982268 2.25 [{'connected_gene': 'CTPS1', 'score': 565.71}, {'connected_gene': 'GC01M040907', 'score': 550.77}, {'connected_gene': 'SLFNL1', 'score': 24.29}, {'connected_gene': 'EXO5', 'score': 22.58}, {'connected_gene': 'ENSG00000235358', 'score': 14.16}, {'connected_gene': 'NFYC', 'score': 13.34}, {'connected_gene': 'SCMH1', 'score': 9.71}, {'connected_gene': 'FOXO6', 'score': 9.59}]
chr1 GH01I041035 41035768 41036101 0.22 [{'connected_gene': 'CTPS1', 'score': 9.01}, {'connected_gene': 'SLFNL1', 'score': 0.39}, {'connected_gene': 'SLFNL1-AS1', 'score': 0.34}, {'connected_gene': 'RPL23AP17', 'score': 0.21}, {'connected_gene': 'SCMH1', 'score': 0.08}]
chr1 GH01I040967 40967158 40969047 0.94 [{'connected_gene': 'CTPS1', 'score': 14.51}, {'connected_gene': 'ENSG00000235358', 'score': 13.91}, {'connected_gene': 'SLFNL1', 'score': 10.66}, {'connected_gene': 'GC01M040907', 'score': 0.39}, {'connected_gene': 'GC01P040947', 'score': 0.34}]
chr1 GH01I041006 41006486 41008435 0.38 [{'connected_gene': 'CTPS1', 'score': 9.13}, {'connected_gene': 'GC01M041011', 'score': 0.44}]
chr1 GH01I040943 40943926 40946834 1.26 [{'connected_gene': 'UBE2V1P8', 'score': 550.77}, {'connected_gene': 'CITED4', 'score': 19.3}, {'connected_gene': 'ENSG00000229528', 'score': 12.07}, {'connected_gene': 'CTPS1', 'score': 11.77}, {'connected_gene': 'MIR30C1', 'score': 10.98}, {'connected_gene': 'MIR30E', 'score': 10.98}, {'connected_gene': 'NFYC', 'score': 10.96}, {'connected_gene': 'EXO5', 'score': 10.64}, {'connected_gene': 'ENSG00000235358', 'score': 5.34}, {'connected_gene': 'GC01P040947', 'score': 0.77}, {'connected_gene': 'GC01M040907', 'score': 0.29}]
chr1 GH01I041473 41473859 41477757 1.19 [{'connected_gene': 'LOC101929901', 'score': 10.41}, {'connected_gene': 'ENSG00000230881', 'score': 10.02}, {'connected_gene': 'LOC100418723', 'score': 10.0}, {'connected_gene': 'SLFNL1', 'score': 9.13}, {'connected_gene': 'CTPS1', 'score': 5.16}, {'connected_gene': 'FOXO6', 'score': 4.4}, {'connected_gene': 'RNA5SP45', 'score': 0.44}, {'connected_gene': 'GC01M041472', 'score': 0.44}]
chr1 GH01I041013 41013747 41016103 0.74 [{'connected_gene': 'SLFNL1-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000235358', 'score': 34.01}, {'connected_gene': 'FOXO6', 'score': 16.79}, {'connected_gene': 'SLFNL1', 'score': 9.66}, {'connected_gene': 'SCMH1', 'score': 7.31}, {'connected_gene': 'CTPS1', 'score': 7.16}]
chr1 GH01I041107 41107984 41110895 1.13 [{'connected_gene': 'FOXO6', 'score': 16.8}, {'connected_gene': 'ENSG00000235358', 'score': 14.05}, {'connected_gene': 'RLF', 'score': 10.75}, {'connected_gene': 'CTPS1', 'score': 8.91}, {'connected_gene': 'SCMH1', 'score': 7.45}, {'connected_gene': 'RPL23AP17', 'score': 0.39}, {'connected_gene': 'GC01M041130', 'score': 0.34}]
chr1 GH01I041044 41044131 41047158 0.83 [{'connected_gene': 'FOXO6', 'score': 16.79}, {'connected_gene': 'SLFNL1', 'score': 11.94}, {'connected_gene': 'CTPS1', 'score': 9.0}, {'connected_gene': 'RPL23AP17', 'score': 0.23}, {'connected_gene': 'SCMH1', 'score': 0.08}]
chr1 GH01I040939 40939379 40940498 1.21 [{'connected_gene': 'LOC100128362', 'score': 550.77}, {'connected_gene': 'CTPS1', 'score': 11.75}, {'connected_gene': 'MIR30C1', 'score': 9.93}, {'connected_gene': 'MIR30E', 'score': 9.92}, {'connected_gene': 'NFYC', 'score': 9.9}, {'connected_gene': 'CITED4', 'score': 7.71}, {'connected_gene': 'GC01M040945', 'score': 0.77}, {'connected_gene': 'GC01M040907', 'score': 0.28}]
chr1 GH01I041002 41002992 41004752 1.26 [{'connected_gene': 'ENSG00000235358', 'score': 33.28}, {'connected_gene': 'EXO5', 'score': 21.38}, {'connected_gene': 'FOXO6', 'score': 16.64}, {'connected_gene': 'NFYC', 'score': 10.64}, {'connected_gene': 'SCMH1', 'score': 7.44}, {'connected_gene': 'GC01M041011', 'score': 0.44}, {'connected_gene': 'CTPS1', 'score': 0.34}]
chr1 GH01I041238 41238311 41243936 2.3 [{'connected_gene': 'ENSG00000235358', 'score': 581.76}, {'connected_gene': 'SCMH1', 'score': 558.93}, {'connected_gene': 'LOC102723924', 'score': 550.77}, {'connected_gene': 'EXO5', 'score': 23.75}, {'connected_gene': 'FOXO6', 'score': 16.85}, {'connected_gene': 'CTPS1', 'score': 8.86}, {'connected_gene': 'PIR51229', 'score': 0.23}]
chr1 GH01I040984 40984408 40989242 0.78 [{'connected_gene': 'ENSG00000235358', 'score': 14.75}, {'connected_gene': 'CTPS1', 'score': 12.44}, {'connected_gene': 'SLFNL1', 'score': 11.74}, {'connected_gene': 'MIR30C1', 'score': 9.67}, {'connected_gene': 'MIR30E', 'score': 9.67}, {'connected_gene': 'NFYC', 'score': 9.65}, {'connected_gene': 'COL9A2', 'score': 4.66}, {'connected_gene': 'GC01M041011', 'score': 0.31}]
chr1 GH01I041244 41244924 41247265 0.78 [{'connected_gene': 'GC01M041247', 'score': 550.77}, {'connected_gene': 'GC01M041245', 'score': 550.77}, {'connected_gene': 'CTPS1', 'score': 8.85}, {'connected_gene': 'ENSG00000235358', 'score': 6.12}, {'connected_gene': 'FOXO6', 'score': 5.04}, {'connected_gene': 'LOC102723924', 'score': 0.77}]
chr1 GH01I041149 41149760 41154418 1.13 [{'connected_gene': 'ENSG00000235358', 'score': 33.51}, {'connected_gene': 'FOXO6', 'score': 16.82}, {'connected_gene': 'EXO5', 'score': 10.04}, {'connected_gene': 'CTPS1', 'score': 8.88}, {'connected_gene': 'GC01M041153', 'score': 0.77}, {'connected_gene': 'GC01M041144', 'score': 0.44}, {'connected_gene': 'SCMH1', 'score': 0.16}]

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