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
ENST00000323482 [[24986867, 24988577], [24989905, 24990024], [24993236, 24993300], [24993447, 24993575], [24994171, 24994298], [24994596, 24994709], [24995773, 24995866], [25000645, 25000783], [25002024, 25002172], [25003575, 25003728], [25004101, 25004277], [25011394, 25011594], [25028720, 25028817], [25038404, 25038818]] [[24988397, 24988577], [24989905, 24990024], [24993236, 24993300], [24993447, 24993575], [24994171, 24994298], [24994596, 24994709], [24995773, 24995866], [25000645, 25000783], [25002024, 25002172], [25003575, 25003728], [25004101, 25004277], [25011394, 25011594], [25028720, 25028817], [25038404, 25038738]]
ENST00000432802 [[24987495, 24987561], [24993492, 24993575], [24994171, 24994298], [24994596, 24994709], [24995773, 24995866], [25000645, 25000783], [25002024, 25002172], [25003575, 25003728], [25004101, 25004277], [25011394, 25011594], [25028720, 25028817], [25038404, 25039616]] [[24987495, 24987561], [24993492, 24993575], [24994171, 24994298], [24994596, 24994709], [24995773, 24995866], [25000645, 25000783], [25002024, 25002172], [25003575, 25003728], [25004101, 25004277], [25011394, 25011594], [25028720, 25028817], [25038404, 25038738]]
ENST00000376726 [[25026573, 25027508], [25028720, 25028817], [25038404, 25039616]] [[25027477, 25027508], [25028720, 25028817], [25038404, 25038738]]
ENST00000484396 [[24986867, 24988577], [24989905, 24992962]] None
ENST00000537502 [[24986873, 24988577], [24989905, 24990024], [24993236, 24993300], [24993447, 24993575], [24994171, 24994298], [24994596, 24994709], [24995773, 24995866], [25000645, 25000783], [25002024, 25002172], [25003575, 25003728], [25004101, 25004277], [25011394, 25013308]] [[24988397, 24988577], [24989905, 24990024], [24993236, 24993300], [24993447, 24993575], [24994171, 24994298], [24994596, 24994709], [24995773, 24995866], [25000645, 25000783], [25002024, 25002172], [25003575, 25003728], [25004101, 25004277], [25011394, 25011776]]
ENST00000542618 [[24988143, 24988577], [24989905, 24990024], [24993236, 24993300], [24993447, 24993575], [24994171, 24994298], [24994596, 24994709], [24995773, 24995866], [25000645, 25000783], [25002024, 25002172], [25003575, 25003728], [25004101, 25004277], [25011394, 25011594], [25013004, 25013339]] [[24988397, 24988577], [24989905, 24990024], [24993236, 24993300], [24993447, 24993575], [24994171, 24994298], [24994596, 24994709], [24995773, 24995866], [25000645, 25000783], [25002024, 25002172], [25003575, 25003728], [25004101, 25004277], [25011394, 25011594], [25013004, 25013072]]
NM_032501 [[24986865, 24988577], [24989905, 24990024], [24993236, 24993300], [24993447, 24993575], [24994171, 24994298], [24994596, 24994709], [24995773, 24995866], [25000645, 25000783], [25002024, 25002172], [25003575, 25003728], [25004101, 25004277], [25011394, 25011594], [25028720, 25028817], [25038404, 25038818]] [[24988397, 24988577], [24989905, 24990024], [24993236, 24993300], [24993447, 24993575], [24994171, 24994298], [24994596, 24994709], [24995773, 24995866], [25000645, 25000783], [25002024, 25002172], [25003575, 25003728], [25004101, 25004277], [25011394, 25011594], [25028720, 25028817], [25038404, 25038738]]
NM_001252677 [[24986865, 24987561], [24993492, 24993575], [24994171, 24994298], [24994596, 24994709], [24995773, 24995866], [25000645, 25000783], [25002024, 25002172], [25003575, 25003728], [25004101, 25004277], [25011394, 25011594], [25028720, 25028817], [25038404, 25038818]] [[24987495, 24987561], [24993492, 24993575], [24994171, 24994298], [24994596, 24994709], [24995773, 24995866], [25000645, 25000783], [25002024, 25002172], [25003575, 25003728], [25004101, 25004277], [25011394, 25011594], [25028720, 25028817], [25038404, 25038738]]
NM_001252675 [[24986865, 24988577], [24989905, 24990024], [24993236, 24993300], [24993447, 24993575], [24994171, 24994298], [24994596, 24994703], [24995773, 24995866], [25000645, 25000783], [25002024, 25002172], [25003575, 25003728], [25004101, 25004277], [25011394, 25011594], [25028720, 25028817], [25038404, 25038818]] [[24988397, 24988577], [24989905, 24990024], [24993236, 24993300], [24993447, 24993575], [24994171, 24994298], [24994596, 24994703], [24995773, 24995866], [25000645, 25000783], [25002024, 25002172], [25003575, 25003728], [25004101, 25004277], [25011394, 25011594], [25028720, 25028817], [25038404, 25038738]]
NM_001252676 [[24986865, 24988577], [24989905, 24990024], [24993236, 24993300], [24993447, 24993575], [24994171, 24994298], [24994596, 24994709], [24995773, 24995866], [25000645, 25000783], [25002024, 25002172], [25003575, 25003728], [25004101, 25004277], [25011394, 25011594], [25013004, 25013342]] [[24988397, 24988577], [24989905, 24990024], [24993236, 24993300], [24993447, 24993575], [24994171, 24994298], [24994596, 24994709], [24995773, 24995866], [25000645, 25000783], [25002024, 25002172], [25003575, 25003728], [25004101, 25004277], [25011394, 25011594], [25013004, 25013072]]
Promoter
Chrom Start End Description
chr20 25038752 25038785 CAGE_peak_1_at_ACSS1_5end
chr20 25038804 25038816 CAGE_peak_2_at_ACSS1_5end
chr20 25039008 25039028 CAGE_peak_3_at_ACSS1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I025198 25198739 25199482 0.54 [{'connected_gene': 'ENTPD6', 'score': 12.19}, {'connected_gene': 'PYGB', 'score': 11.54}, {'connected_gene': 'ACSS1', 'score': 10.42}, {'connected_gene': 'CST7', 'score': 4.33}, {'connected_gene': 'LOC101926889', 'score': 0.77}, {'connected_gene': 'ENSG00000202414', 'score': 0.37}]
chr20 GH20I025219 25219912 25221996 0.64 [{'connected_gene': 'ENTPD6', 'score': 13.87}, {'connected_gene': 'PYGB', 'score': 12.22}, {'connected_gene': 'ACSS1', 'score': 10.39}, {'connected_gene': 'ENSG00000279322', 'score': 0.44}, {'connected_gene': 'ENSG00000202414', 'score': 0.44}]
chr20 GH20I025194 25194657 25198084 2.23 [{'connected_gene': 'ENTPD6', 'score': 562.83}, {'connected_gene': 'LOC101926889', 'score': 550.77}, {'connected_gene': 'PYGB', 'score': 31.27}, {'connected_gene': 'FAM182B', 'score': 16.63}, {'connected_gene': 'NINL', 'score': 13.28}, {'connected_gene': 'ABHD12', 'score': 12.27}, {'connected_gene': 'ACSS1', 'score': 11.31}, {'connected_gene': 'VN1R108P', 'score': 9.8}, {'connected_gene': 'VSX1', 'score': 7.83}, {'connected_gene': 'CST7', 'score': 5.21}]
chr20 GH20I025048 25048241 25049961 1.04 [{'connected_gene': 'CST7', 'score': 7.45}, {'connected_gene': 'ENTPD6', 'score': 6.42}, {'connected_gene': 'ACSS1', 'score': 0.44}, {'connected_gene': 'PIR53263', 'score': 0.44}]
chr20 GH20I024984 24984401 24986800 0.74 [{'connected_gene': 'CST7', 'score': 19.85}, {'connected_gene': 'ACSS1', 'score': 11.58}, {'connected_gene': 'APMAP', 'score': 7.23}, {'connected_gene': 'VN1R108P', 'score': 5.39}, {'connected_gene': 'VSX1', 'score': 4.39}, {'connected_gene': 'RNU6-1257P', 'score': 0.39}]
chr20 GH20I024948 24948589 24956969 1.91 [{'connected_gene': 'CST7', 'score': 573.09}, {'connected_gene': 'APMAP', 'score': 19.14}, {'connected_gene': 'ACSS1', 'score': 10.78}, {'connected_gene': 'VN1R108P', 'score': 5.63}, {'connected_gene': 'PYGB', 'score': 4.79}, {'connected_gene': 'PIR45392', 'score': 0.39}]
chr20 GH20I025022 25022420 25023512 0.72 [{'connected_gene': 'CST7', 'score': 12.39}, {'connected_gene': 'PIR53263', 'score': 0.37}, {'connected_gene': 'APMAP', 'score': 0.31}, {'connected_gene': 'ACSS1', 'score': 0.28}]
chr20 GH20I025019 25019767 25020288 0.2 [{'connected_gene': 'CST7', 'score': 7.11}, {'connected_gene': 'APMAP', 'score': 6.6}, {'connected_gene': 'PIR53263', 'score': 0.37}, {'connected_gene': 'ACSS1', 'score': 0.28}]
chr20 GH20I025024 25024738 25028196 0.46 [{'connected_gene': 'CST7', 'score': 11.84}, {'connected_gene': 'APMAP', 'score': 6.29}, {'connected_gene': 'PIR53263', 'score': 0.39}, {'connected_gene': 'ACSS1', 'score': 0.29}]
chr20 GH20I025029 25029938 25034673 1.74 [{'connected_gene': 'ACSS1', 'score': 568.29}, {'connected_gene': 'CST7', 'score': 12.29}, {'connected_gene': 'APMAP', 'score': 6.13}, {'connected_gene': 'FAM182B', 'score': 4.75}, {'connected_gene': 'PIR53263', 'score': 0.44}]
chr20 GH20I025013 25013482 25014311 0.2 [{'connected_gene': 'ACSS1', 'score': 12.37}, {'connected_gene': 'CST7', 'score': 10.77}, {'connected_gene': 'APMAP', 'score': 6.12}, {'connected_gene': 'PIR53263', 'score': 0.31}]
chr20 GH20I025006 25005265 25005454 0.66 [{'connected_gene': 'ACSS1', 'score': 12.15}, {'connected_gene': 'CST7', 'score': 8.06}, {'connected_gene': 'APMAP', 'score': 6.39}, {'connected_gene': 'PIR53263', 'score': 0.29}]
chr20 GH20I025005 25005600 25007136 0.2 [{'connected_gene': 'ACSS1', 'score': 12.15}, {'connected_gene': 'CST7', 'score': 10.65}, {'connected_gene': 'APMAP', 'score': 0.39}, {'connected_gene': 'PIR53263', 'score': 0.29}]
chr20 GH20I025007 25007929 25013070 0.65 [{'connected_gene': 'ACSS1', 'score': 12.37}, {'connected_gene': 'CST7', 'score': 12.12}, {'connected_gene': 'APMAP', 'score': 6.63}, {'connected_gene': 'PIR53263', 'score': 0.31}]
chr20 GH20I025086 25086089 25088429 0.38 [{'connected_gene': 'ACSS1', 'score': 11.35}, {'connected_gene': 'PYGB', 'score': 9.67}, {'connected_gene': 'FAM182B', 'score': 5.89}, {'connected_gene': 'VSX1', 'score': 0.77}, {'connected_gene': 'LOC391239', 'score': 0.39}]
chr20 GH20I024977 24977107 24978495 0.56 [{'connected_gene': 'ACSS1', 'score': 10.87}, {'connected_gene': 'PYGB', 'score': 9.62}, {'connected_gene': 'APMAP', 'score': 6.74}, {'connected_gene': 'RNU6-1257P', 'score': 0.77}]
chr20 GH20I024987 24987405 24987554 1.07 [{'connected_gene': 'ACSS1', 'score': 11.58}, {'connected_gene': 'APMAP', 'score': 0.44}, {'connected_gene': 'RNU6-1257P', 'score': 0.39}]
chr20 GH20I024979 24979932 24980617 0.51 [{'connected_gene': 'ACSS1', 'score': 10.55}, {'connected_gene': 'APMAP', 'score': 8.02}, {'connected_gene': 'RNU6-1257P', 'score': 0.44}]
chr20 GH20I024988 24987731 24989054 0.89 [{'connected_gene': 'ACSS1', 'score': 11.58}, {'connected_gene': 'APMAP', 'score': 0.77}, {'connected_gene': 'RNU6-1257P', 'score': 0.39}]
chr20 GH20I025041 25041259 25044799 1.05 [{'connected_gene': 'ACSS1', 'score': 5.12}, {'connected_gene': 'APMAP', 'score': 4.88}, {'connected_gene': 'PIR53263', 'score': 0.77}]
chr20 GH20I025051 25051671 25060101 2.4 [{'connected_gene': 'ACSS1', 'score': 558.24}, {'connected_gene': 'VSX1', 'score': 11.47}, {'connected_gene': 'CST7', 'score': 7.78}, {'connected_gene': 'ENTPD6', 'score': 6.63}, {'connected_gene': 'FAM182B', 'score': 5.53}, {'connected_gene': 'ZNF337', 'score': 5.25}, {'connected_gene': 'NINL', 'score': 4.02}, {'connected_gene': 'PIR53263', 'score': 0.37}]
chr20 GH20I025089 25089949 25092411 0.92 [{'connected_gene': 'ACSS1', 'score': 15.4}, {'connected_gene': 'VSX1', 'score': 14.19}, {'connected_gene': 'PYGB', 'score': 5.3}, {'connected_gene': 'GINS1', 'score': 1.27}, {'connected_gene': 'LOC391239', 'score': 0.44}]
chr20 GH20I024981 24981341 24982827 0.58 [{'connected_gene': 'ACSS1', 'score': 10.55}, {'connected_gene': 'RNU6-1257P', 'score': 0.44}, {'connected_gene': 'APMAP', 'score': 0.39}]
chr20 GH20I025050 25050645 25051340 0.31 [{'connected_gene': 'ACSS1', 'score': 0.44}, {'connected_gene': 'PIR53263', 'score': 0.39}]
chr20 GH20I025190 25190928 25192331 0.58 [{'connected_gene': 'PYGB', 'score': 11.14}, {'connected_gene': 'ACSS1', 'score': 10.8}, {'connected_gene': 'ENTPD6', 'score': 5.63}, {'connected_gene': 'VSX1', 'score': 5.54}, {'connected_gene': 'CST7', 'score': 4.84}, {'connected_gene': 'LOC101926889', 'score': 0.44}, {'connected_gene': 'LOC100128078', 'score': 0.31}]
chr20 GH20I025216 25216093 25217880 0.52 [{'connected_gene': 'PYGB', 'score': 18.61}, {'connected_gene': 'ACSS1', 'score': 10.23}, {'connected_gene': 'ENSG00000202414', 'score': 0.77}, {'connected_gene': 'ENSG00000279322', 'score': 0.44}, {'connected_gene': 'ENTPD6', 'score': 0.34}]
chr20 GH20I025207 25207782 25208267 0.31 [{'connected_gene': 'PYGB', 'score': 11.38}, {'connected_gene': 'ACSS1', 'score': 9.93}, {'connected_gene': 'ENSG00000202414', 'score': 0.44}, {'connected_gene': 'LOC101926889', 'score': 0.39}, {'connected_gene': 'ENTPD6', 'score': 0.39}]
chr20 GH20I025203 25203585 25205949 0.96 [{'connected_gene': 'PYGB', 'score': 31.93}, {'connected_gene': 'ABHD12', 'score': 18.74}, {'connected_gene': 'ENTPD6', 'score': 13.12}, {'connected_gene': 'ACSS1', 'score': 10.42}, {'connected_gene': 'ENSG00000202414', 'score': 0.44}, {'connected_gene': 'LOC101926889', 'score': 0.44}]
chr20 GH20I024989 24989063 24994234 2.27 [{'connected_gene': 'APMAP', 'score': 558.48}, {'connected_gene': 'CST7', 'score': 19.93}, {'connected_gene': 'ACSS1', 'score': 12.24}, {'connected_gene': 'VN1R108P', 'score': 5.39}, {'connected_gene': 'PYGB', 'score': 4.34}, {'connected_gene': 'RNU6-1257P', 'score': 0.37}]
chr20 GH20I025016 25016389 25019760 1.05 [{'connected_gene': 'APMAP', 'score': 19.25}, {'connected_gene': 'ACSS1', 'score': 12.39}, {'connected_gene': 'CST7', 'score': 10.09}, {'connected_gene': 'PIR53263', 'score': 0.34}]
chr20 GH20I025020 25020310 25021789 0.31 [{'connected_gene': 'APMAP', 'score': 6.76}, {'connected_gene': 'PIR53263', 'score': 0.37}, {'connected_gene': 'ACSS1', 'score': 0.28}]
chr20 GH20I025045 25045201 25045400 0.74 [{'connected_gene': 'APMAP', 'score': 5.17}, {'connected_gene': 'PIR53263', 'score': 0.44}, {'connected_gene': 'ACSS1', 'score': 0.39}]
chr20 GH20I025061 25061025 25062072 0.8 [{'connected_gene': 'VSX1', 'score': 8.18}, {'connected_gene': 'CST7', 'score': 5.94}, {'connected_gene': 'ENSG00000275358', 'score': 0.77}, {'connected_gene': 'ACSS1', 'score': 0.77}]
chr20 GH20I025078 25078696 25079642 0.2 [{'connected_gene': 'VSX1', 'score': 17.44}, {'connected_gene': 'ACSS1', 'score': 11.57}, {'connected_gene': 'PYGB', 'score': 5.33}, {'connected_gene': 'ENSG00000275358', 'score': 0.37}]
chr20 GH20I025082 25082129 25082188 0.68 [{'connected_gene': 'VSX1', 'score': 550.77}, {'connected_gene': 'ACSS1', 'score': 11.57}, {'connected_gene': 'ENSG00000275358', 'score': 0.37}]
chr20 GH20I025317 25317085 25320071 1.42 [{'connected_gene': 'ABHD12', 'score': 51.19}, {'connected_gene': 'ACSS1', 'score': 9.76}, {'connected_gene': 'ZNF337', 'score': 6.43}, {'connected_gene': 'NANP', 'score': 4.29}, {'connected_gene': 'GC20P025297', 'score': 0.34}, {'connected_gene': 'GC20P025348', 'score': 0.31}]
chr20 GH20I025368 25365794 25366104 0.22 [{'connected_gene': 'ABHD12', 'score': 33.92}, {'connected_gene': 'ACSS1', 'score': 1.26}, {'connected_gene': 'GC20M025368', 'score': 0.77}, {'connected_gene': 'GC20P025348', 'score': 0.37}]
chr20 GH20I025314 25314631 25316309 0.52 [{'connected_gene': 'ABHD12', 'score': 51.18}, {'connected_gene': 'ACSS1', 'score': 9.76}, {'connected_gene': 'GC20P025297', 'score': 0.37}, {'connected_gene': 'GC20P025348', 'score': 0.29}]
chr20 GH20I025318 25317047 25317054 0.4 [{'connected_gene': 'ABHD12', 'score': 12.16}, {'connected_gene': 'ACSS1', 'score': 9.76}, {'connected_gene': 'GC20P025297', 'score': 0.37}, {'connected_gene': 'GC20P025348', 'score': 0.29}]
chr20 GH20I025307 25307990 25312451 1.47 [{'connected_gene': 'ABHD12', 'score': 38.0}, {'connected_gene': 'PYGB', 'score': 17.4}, {'connected_gene': 'ENTPD6', 'score': 11.59}, {'connected_gene': 'ZNF337', 'score': 11.35}, {'connected_gene': 'FAM182B', 'score': 10.71}, {'connected_gene': 'ACSS1', 'score': 10.01}, {'connected_gene': 'NANP', 'score': 9.79}, {'connected_gene': 'ZNF337-AS1', 'score': 9.79}, {'connected_gene': 'GC20P025297', 'score': 0.39}, {'connected_gene': 'GC20P025348', 'score': 0.28}]
chr20 GH20I025464 25464401 25465833 0.97 [{'connected_gene': 'ABHD12', 'score': 45.89}, {'connected_gene': 'PYGB', 'score': 20.39}, {'connected_gene': 'ACSS1', 'score': 5.84}, {'connected_gene': 'GC20P025489', 'score': 0.34}, {'connected_gene': 'PIR61820', 'score': 0.29}, {'connected_gene': 'NINL', 'score': 0.13}]
chr20 GH20I025280 25280245 25280394 0.82 [{'connected_gene': 'ABHD12', 'score': 34.65}, {'connected_gene': 'PYGB', 'score': 12.28}, {'connected_gene': 'ACSS1', 'score': 10.37}, {'connected_gene': 'ENSG00000276952', 'score': 0.44}, {'connected_gene': 'PIR44667', 'score': 0.34}]
chr20 GH20I024933 24933993 24934771 0.31 [{'connected_gene': 'RNU6-1257P', 'score': 11.85}, {'connected_gene': 'ACSS1', 'score': 10.87}, {'connected_gene': 'APMAP', 'score': 6.58}, {'connected_gene': 'LOC105372578', 'score': 0.44}, {'connected_gene': 'CST7', 'score': 0.39}]
chr20 GH20I024929 24929482 24932760 0.94 [{'connected_gene': 'LOC105372578', 'score': 550.77}, {'connected_gene': 'CST7', 'score': 19.99}, {'connected_gene': 'RNU6-1257P', 'score': 11.84}, {'connected_gene': 'ACSS1', 'score': 10.87}, {'connected_gene': 'APMAP', 'score': 8.38}, {'connected_gene': 'VN1R108P', 'score': 5.41}]
chr20 GH20I024957 24957263 24966432 1.01 [{'connected_gene': 'PIR45392', 'score': 550.77}, {'connected_gene': 'CST7', 'score': 21.89}, {'connected_gene': 'APMAP', 'score': 11.15}, {'connected_gene': 'ACSS1', 'score': 10.79}, {'connected_gene': 'VN1R108P', 'score': 5.43}]
chr20 GH20I025035 25035078 25041194 1.08 [{'connected_gene': 'PIR53263', 'score': 550.77}, {'connected_gene': 'ACSS1', 'score': 17.02}, {'connected_gene': 'CST7', 'score': 6.78}, {'connected_gene': 'APMAP', 'score': 5.86}]
chr20 GH20I025047 25047909 25048014 0.51 [{'connected_gene': 'PIR53263', 'score': 0.44}, {'connected_gene': 'ACSS1', 'score': 0.39}]
chr20 GH20I025046 25046325 25046334 0.94 [{'connected_gene': 'PIR53263', 'score': 0.44}, {'connected_gene': 'ACSS1', 'score': 0.39}]

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