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
ENST00000428554 [[42929024, 42929328], [42938792, 42938974], [42946131, 42946237], [42948333, 42948487], [42955828, 42955900], [42962768, 42962884], [42964488, 42964587], [43000559, 43000660], [43002146, 43002272], [43004843, 43004981], [43011080, 43011250], [43021826, 43022076], [43031966, 43032146], [43042690, 43042900], [43047030, 43047185], [43054991, 43055154], [43076648, 43076761], [43102907, 43103049], [43108143, 43108280], [43110363, 43110478], [43111805, 43111988], [43119046, 43119114], [43119488, 43119852]] [[43002155, 43002272], [43004843, 43004981], [43011080, 43011250], [43021826, 43022076], [43031966, 43032146], [43042690, 43042900], [43047030, 43047185], [43054991, 43055154], [43076648, 43076761], [43102907, 43103049], [43108143, 43108280], [43110363, 43110478], [43111805, 43111988], [43119046, 43119114], [43119488, 43119699]]
ENST00000477155 [[42929024, 42929328], [42938792, 42938974], [42946131, 42946237], [42948333, 42948487], [42955828, 42955900], [42962768, 42962884], [42964488, 42964587], [43000559, 43000660], [43002146, 43002272], [43011080, 43011250], [43021826, 43022076], [43023809, 43023947], [43031966, 43032146], [43042690, 43042900], [43047030, 43047185], [43054991, 43055154], [43076648, 43076761], [43102907, 43103049], [43108143, 43108280], [43110363, 43110478], [43111805, 43111988], [43119046, 43119114], [43119488, 43119857]] [[43042741, 43042900], [43047030, 43047185], [43054991, 43055154], [43076648, 43076761], [43102907, 43103049], [43108143, 43108280], [43110363, 43110478], [43111805, 43111988], [43119046, 43119114], [43119488, 43119699]]
ENST00000495044 [[42948364, 42948487], [42955828, 42955900], [42962768, 42962884], [42964488, 42964587], [43000559, 43000660], [43002146, 43003656]] None
ENST00000507855 [[42955599, 42955900], [42962768, 42962884], [42964488, 42964587], [42986833, 42986927], [43031966, 43032146], [43042690, 43042900], [43047030, 43047185], [43054991, 43055154], [43076648, 43076761], [43102907, 43103049], [43108143, 43108280], [43110363, 43110478], [43111805, 43111988], [43119046, 43119114], [43119488, 43119857]] [[42986885, 42986927], [43031966, 43032146], [43042690, 43042900], [43047030, 43047185], [43054991, 43055154], [43076648, 43076761], [43102907, 43103049], [43108143, 43108280], [43110363, 43110478], [43111805, 43111988], [43119046, 43119114], [43119488, 43119699]]
ENST00000509712 [[42962781, 42962884], [42964488, 42964587], [42995272, 42995392], [43000559, 43000660], [43002146, 43002272], [43011080, 43011250], [43021826, 43022076], [43031966, 43032146], [43042690, 43042900], [43046502, 43046652], [43047030, 43047087]] [[43002155, 43002272], [43011080, 43011250], [43021826, 43022076], [43031966, 43032146], [43042690, 43042900], [43046502, 43046514]]
ENST00000475614 [[42929000, 42929561], [42946131, 42946237], [42948333, 42948667]] None
ENST00000468651 [[42929096, 42929328], [42938792, 42939088]] None
ENST00000492422 [[42929592, 42929888], [42938792, 42939231]] None
ENST00000462063 [[42933414, 42933453], [42934330, 42934389], [42938792, 42939056]] None
ENST00000471390 [[42999549, 42999622], [43002146, 43002272], [43002862, 43002961], [43004843, 43004981], [43011080, 43011250], [43021826, 43022076], [43031966, 43032146], [43042690, 43042861], [43047127, 43047185], [43054991, 43055154], [43076648, 43076761], [43102907, 43103049], [43108143, 43108280], [43110363, 43110478], [43111805, 43111988], [43119046, 43119114], [43119488, 43119861]] [[43002155, 43002272], [43002862, 43002931]]
ENST00000342022 [[43000559, 43000660], [43002146, 43002272], [43004843, 43004981], [43011080, 43011250], [43021826, 43022076], [43031966, 43032146], [43042690, 43042900], [43047030, 43047185], [43054991, 43055154], [43076648, 43076761], [43102907, 43103049], [43108143, 43108280], [43110363, 43110478], [43111805, 43111988], [43119046, 43119114], [43119488, 43120335]] [[43002155, 43002272], [43004843, 43004981], [43011080, 43011250], [43021826, 43022076], [43031966, 43032146], [43042690, 43042900], [43047030, 43047185], [43054991, 43055154], [43076648, 43076761], [43102907, 43103049], [43108143, 43108280], [43110363, 43110478], [43111805, 43111988], [43119046, 43119114], [43119488, 43119699]]
ENST00000340612 [[43002155, 43002272], [43004843, 43004981], [43011080, 43011250], [43021826, 43022076], [43031966, 43032146], [43042690, 43042900], [43047030, 43047185], [43054991, 43055154], [43076648, 43076761], [43102907, 43103049], [43108143, 43108280], [43110363, 43110478], [43111805, 43111988], [43119046, 43119114], [43119488, 43120011]] [[43002155, 43002272], [43004843, 43004981], [43011080, 43011250], [43021826, 43022076], [43031966, 43032146], [43042690, 43042900], [43047030, 43047185], [43054991, 43055154], [43076648, 43076761], [43102907, 43103049], [43108143, 43108280], [43110363, 43110478], [43111805, 43111988], [43119046, 43119114], [43119488, 43119699]]
ENST00000514642 [[43002243, 43002272], [43031966, 43032146], [43042690, 43042900], [43047030, 43047185], [43054991, 43061244]] None
ENST00000390640 [[43008459, 43008501], [43031966, 43032146], [43042690, 43042900], [43047030, 43047185], [43054991, 43055154], [43076648, 43076761], [43102907, 43103049], [43108143, 43108280], [43110363, 43110478], [43111805, 43111988], [43119046, 43119114], [43119488, 43119852]] [[43008459, 43008501], [43031966, 43032146], [43042690, 43042900], [43047030, 43047185], [43054991, 43055154], [43076648, 43076761], [43102907, 43103049], [43108143, 43108280], [43110363, 43110478], [43111805, 43111988], [43119046, 43119114], [43119488, 43119699]]
ENST00000471699 [[43047104, 43047185], [43054991, 43055154], [43055985, 43056132]] None
NM_001080850 [[43000559, 43000660], [43002146, 43002272], [43004843, 43004981], [43011080, 43011250], [43021826, 43022076], [43031966, 43032146], [43042690, 43042900], [43047030, 43047185], [43054991, 43055154], [43076648, 43076761], [43102907, 43103049], [43108143, 43108280], [43110363, 43110478], [43111805, 43111988], [43119046, 43119114], [43119488, 43120335]] [[43002155, 43002272], [43004843, 43004981], [43011080, 43011250], [43021826, 43022076], [43031966, 43032146], [43042690, 43042900], [43047030, 43047185], [43054991, 43055154], [43076648, 43076761], [43102907, 43103049], [43108143, 43108280], [43110363, 43110478], [43111805, 43111988], [43119046, 43119114], [43119488, 43119699]]
Promoter
Chrom Start End Description
chr1 42928945 42929017 CAGE_peak_1_at_CCDC30_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I042430 42430513 42432181 0.59 [{'connected_gene': 'ZMYND12', 'score': 25.89}, {'connected_gene': 'PPCS', 'score': 10.99}, {'connected_gene': 'RNU6-536P', 'score': 10.56}, {'connected_gene': 'ENSG00000236180', 'score': 10.56}, {'connected_gene': 'CCDC30', 'score': 10.4}, {'connected_gene': 'P3H1', 'score': 9.28}, {'connected_gene': 'YBX1', 'score': 8.87}, {'connected_gene': 'PIR31959', 'score': 0.39}]
chr1 GH01I042339 42339364 42341449 0.9 [{'connected_gene': 'ZMYND12', 'score': 14.96}, {'connected_gene': 'P3H1', 'score': 10.32}, {'connected_gene': 'RNU6-536P', 'score': 10.21}, {'connected_gene': 'ENSG00000236180', 'score': 10.2}, {'connected_gene': 'PPCS', 'score': 10.08}, {'connected_gene': 'GUCA2B', 'score': 9.95}, {'connected_gene': 'PPIH', 'score': 9.53}, {'connected_gene': 'YBX1', 'score': 9.46}, {'connected_gene': 'CCDC30', 'score': 9.43}, {'connected_gene': 'ENSG00000227527', 'score': 0.77}, {'connected_gene': 'GC01M042316', 'score': 0.34}]
chr1 GH01I042529 42529169 42530908 0.8 [{'connected_gene': 'ZMYND12', 'score': 20.6}, {'connected_gene': 'RNU6-536P', 'score': 11.35}, {'connected_gene': 'ENSG00000236180', 'score': 11.34}, {'connected_gene': 'PPIH', 'score': 9.21}, {'connected_gene': 'GC01P042512', 'score': 0.37}, {'connected_gene': 'GC01M042556', 'score': 0.29}, {'connected_gene': 'CCDC30', 'score': 0.2}]
chr1 GH01I042454 42454076 42457660 2.02 [{'connected_gene': 'PPCS', 'score': 550.77}, {'connected_gene': 'ZMYND12', 'score': 550.77}, {'connected_gene': 'CCDC30', 'score': 15.15}, {'connected_gene': 'FOXJ3', 'score': 11.45}, {'connected_gene': 'PPIH', 'score': 9.64}, {'connected_gene': 'PIR31959', 'score': 0.28}]
chr1 GH01I042465 42465319 42466624 0.62 [{'connected_gene': 'CCDC30', 'score': 15.73}, {'connected_gene': 'ZMYND12', 'score': 11.33}, {'connected_gene': 'RNU6-536P', 'score': 9.58}, {'connected_gene': 'ENSG00000236180', 'score': 9.58}, {'connected_gene': 'PPCS', 'score': 0.44}, {'connected_gene': 'RPS3AP11', 'score': 0.31}]
chr1 GH01I042461 42461918 42464163 1.42 [{'connected_gene': 'CCDC30', 'score': 565.68}, {'connected_gene': 'SZT2', 'score': 19.89}, {'connected_gene': 'ZMYND12', 'score': 14.52}, {'connected_gene': 'P3H1', 'score': 12.92}, {'connected_gene': 'PPCS', 'score': 0.44}]
chr1 GH01I042440 42440030 42440219 0.64 [{'connected_gene': 'CCDC30', 'score': 11.14}, {'connected_gene': 'RNU6-536P', 'score': 10.21}, {'connected_gene': 'ENSG00000236180', 'score': 10.2}, {'connected_gene': 'PPIH', 'score': 9.78}, {'connected_gene': 'YBX1', 'score': 9.48}, {'connected_gene': 'PPCS', 'score': 0.37}, {'connected_gene': 'ZMYND12', 'score': 0.37}, {'connected_gene': 'PIR31959', 'score': 0.34}]
chr1 GH01I042499 42499801 42500400 0.5 [{'connected_gene': 'TMSB4XP1', 'score': 550.77}, {'connected_gene': 'ZMYND12', 'score': 20.66}, {'connected_gene': 'RPS3AP11', 'score': 0.44}, {'connected_gene': 'CCDC30', 'score': 0.28}]
chr1 GH01I041911 41911845 41921247 2.62 [{'connected_gene': 'HIVEP3', 'score': 555.53}, {'connected_gene': 'LOC105378683', 'score': 5.44}, {'connected_gene': 'CCDC30', 'score': 4.84}, {'connected_gene': 'FOXJ3', 'score': 1.45}, {'connected_gene': 'PIR53563', 'score': 0.31}]
chr1 GH01I042845 42845768 42848146 2.05 [{'connected_gene': 'ZNF691', 'score': 556.71}, {'connected_gene': 'ENSG00000228192', 'score': 550.77}, {'connected_gene': 'SZT2', 'score': 24.51}, {'connected_gene': 'FOXJ3', 'score': 22.87}, {'connected_gene': 'YBX1', 'score': 16.52}, {'connected_gene': 'CCDC30', 'score': 10.08}, {'connected_gene': 'PPIH', 'score': 9.84}, {'connected_gene': 'ERMAP', 'score': 9.78}, {'connected_gene': 'PIR46792', 'score': 0.39}]
chr1 GH01I042929 42929870 42948855 1.79 [{'connected_gene': 'SLC2A1-AS1', 'score': 41.65}, {'connected_gene': 'HYI', 'score': 13.36}, {'connected_gene': 'SZT2', 'score': 12.58}, {'connected_gene': 'ARTN', 'score': 12.4}, {'connected_gene': 'RNU6-880P', 'score': 11.5}, {'connected_gene': 'FOXJ3', 'score': 10.04}, {'connected_gene': 'C1orf210', 'score': 6.68}, {'connected_gene': 'ERMAP', 'score': 3.31}, {'connected_gene': 'CCDC30', 'score': 3.18}, {'connected_gene': 'YBX1', 'score': 1.86}, {'connected_gene': 'SVBP', 'score': 1.77}, {'connected_gene': 'SLC2A1', 'score': 1.53}, {'connected_gene': 'ENSG00000284138', 'score': 0.39}, {'connected_gene': 'ATP6V1E1P1', 'score': 0.28}]
chr1 GH01I042965 42965452 42968341 1.63 [{'connected_gene': 'SLC2A1-AS1', 'score': 43.27}, {'connected_gene': 'RNU6-880P', 'score': 12.14}, {'connected_gene': 'HYI', 'score': 4.02}, {'connected_gene': 'SLC2A1', 'score': 3.51}, {'connected_gene': 'CCDC30', 'score': 1.18}, {'connected_gene': 'ENSG00000283973', 'score': 0.44}]
chr1 GH01I042598 42598054 42598425 0.34 [{'connected_gene': 'SVBP', 'score': 18.89}, {'connected_gene': 'RNU6-536P', 'score': 11.11}, {'connected_gene': 'ENSG00000236180', 'score': 11.11}, {'connected_gene': 'PPIH', 'score': 10.57}, {'connected_gene': 'P3H1', 'score': 10.28}, {'connected_gene': 'YBX1', 'score': 10.05}, {'connected_gene': 'CLDN19', 'score': 10.01}, {'connected_gene': 'CCDC30', 'score': 1.9}, {'connected_gene': 'RIMKLA', 'score': 1.23}, {'connected_gene': 'GC01M042626', 'score': 0.29}]
chr1 GH01I042923 42922802 42926703 1.5 [{'connected_gene': 'FOXJ3', 'score': 30.83}, {'connected_gene': 'HYI', 'score': 30.14}, {'connected_gene': 'SZT2', 'score': 23.22}, {'connected_gene': 'P3H1', 'score': 12.31}, {'connected_gene': 'RNU6-880P', 'score': 11.48}, {'connected_gene': 'CCDC30', 'score': 11.13}, {'connected_gene': 'ZNF691', 'score': 10.55}, {'connected_gene': 'ENSG00000228192', 'score': 10.55}, {'connected_gene': 'FAM183A', 'score': 10.02}, {'connected_gene': 'KDM4A', 'score': 9.98}, {'connected_gene': 'LOC105378683', 'score': 9.8}, {'connected_gene': 'HYI-AS1', 'score': 9.65}, {'connected_gene': 'ATP6V1E1P1', 'score': 0.34}, {'connected_gene': 'ENSG00000284138', 'score': 0.31}, {'connected_gene': 'SLC2A1', 'score': 0.29}]
chr1 GH01I042333 42333201 42337730 2.14 [{'connected_gene': 'FOXJ3', 'score': 568.35}, {'connected_gene': 'GC01P042336', 'score': 550.77}, {'connected_gene': 'GC01P042337', 'score': 550.77}, {'connected_gene': 'CCDC30', 'score': 30.13}, {'connected_gene': 'P3H1', 'score': 20.52}, {'connected_gene': 'PPIH', 'score': 19.45}, {'connected_gene': 'CLDN19', 'score': 10.41}, {'connected_gene': 'GUCA2B', 'score': 10.34}, {'connected_gene': 'RNU6-536P', 'score': 9.85}, {'connected_gene': 'ENSG00000236180', 'score': 9.85}, {'connected_gene': 'LOC105378683', 'score': 9.73}, {'connected_gene': 'YBX1', 'score': 9.5}, {'connected_gene': 'EDN2', 'score': 4.3}, {'connected_gene': 'ENSG00000227527', 'score': 0.77}, {'connected_gene': 'GC01M042316', 'score': 0.31}, {'connected_gene': 'GC01M042279', 'score': 0.22}, {'connected_gene': 'PIR49391', 'score': 0.22}]
chr1 GH01I043388 43388312 43391136 2.28 [{'connected_gene': 'MED8', 'score': 605.39}, {'connected_gene': 'SZT2', 'score': 556.08}, {'connected_gene': 'HYI', 'score': 13.46}, {'connected_gene': 'CCDC24', 'score': 11.28}, {'connected_gene': 'CCDC30', 'score': 11.12}, {'connected_gene': 'HYI-AS1', 'score': 9.83}, {'connected_gene': 'LOC105378683', 'score': 9.71}, {'connected_gene': 'ENSG00000229431', 'score': 0.77}]
chr1 GH01I042308 42308997 42309130 0.23 [{'connected_gene': 'RNU6-536P', 'score': 10.44}, {'connected_gene': 'ENSG00000236180', 'score': 10.44}, {'connected_gene': 'YBX1', 'score': 9.39}, {'connected_gene': 'PPIH', 'score': 9.12}, {'connected_gene': 'FOXJ3', 'score': 7.38}, {'connected_gene': 'RIMKLA', 'score': 1.7}, {'connected_gene': 'CCDC30', 'score': 1.67}, {'connected_gene': 'ZMYND12', 'score': 1.19}, {'connected_gene': 'GC01M042279', 'score': 0.29}, {'connected_gene': 'PIR49391', 'score': 0.29}]
chr1 GH01I042469 42469077 42469460 0.24 [{'connected_gene': 'RNU6-536P', 'score': 10.09}, {'connected_gene': 'ENSG00000236180', 'score': 10.08}, {'connected_gene': 'PPIH', 'score': 9.62}, {'connected_gene': 'RIMKLA', 'score': 2.17}, {'connected_gene': 'CCDC30', 'score': 1.77}, {'connected_gene': 'PPCS', 'score': 0.39}, {'connected_gene': 'RPS3AP11', 'score': 0.34}]
chr1 GH01I042484 42484332 42485139 0.46 [{'connected_gene': 'PPIH', 'score': 25.76}, {'connected_gene': 'ZMYND12', 'score': 21.8}, {'connected_gene': 'CCDC30', 'score': 15.02}, {'connected_gene': 'PPCS', 'score': 10.9}, {'connected_gene': 'RNU6-536P', 'score': 10.86}, {'connected_gene': 'ENSG00000236180', 'score': 10.85}, {'connected_gene': 'CLDN19', 'score': 9.5}, {'connected_gene': 'YBX1', 'score': 9.35}, {'connected_gene': 'RPS3AP11', 'score': 0.44}]
chr1 GH01I042657 42657175 42659553 2.09 [{'connected_gene': 'PPIH', 'score': 600.51}, {'connected_gene': 'SZT2', 'score': 44.57}, {'connected_gene': 'P3H1', 'score': 33.58}, {'connected_gene': 'KDM4A', 'score': 20.22}, {'connected_gene': 'MED8', 'score': 14.13}, {'connected_gene': 'SVBP', 'score': 13.74}, {'connected_gene': 'ZNF691', 'score': 11.74}, {'connected_gene': 'HYI', 'score': 10.5}, {'connected_gene': 'CCDC30', 'score': 7.86}, {'connected_gene': 'ENSG00000234917', 'score': 0.34}]
chr1 GH01I042164 42164323 42166706 1.65 [{'connected_gene': 'GC01P042164', 'score': 550.77}, {'connected_gene': 'GUCA2A', 'score': 550.77}, {'connected_gene': 'PPIH', 'score': 28.01}, {'connected_gene': 'FOXJ3', 'score': 24.84}, {'connected_gene': 'P3H1', 'score': 22.18}, {'connected_gene': 'CCDC30', 'score': 11.94}, {'connected_gene': 'ZNF691', 'score': 11.62}, {'connected_gene': 'SCMH1', 'score': 10.79}, {'connected_gene': 'ENSG00000227527', 'score': 10.12}, {'connected_gene': 'GC01M042279', 'score': 0.14}, {'connected_gene': 'PIR49391', 'score': 0.14}]

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