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
ENST00000315150 [[128806411, 128810189], [128813828, 128814012], [128840128, 128840633]] [[128809938, 128810189], [128813828, 128814012], [128840128, 128840332]]
ENST00000393304 [[128806411, 128810189], [128813828, 128814012], [128840128, 128840335], [128840586, 128840647]] [[128809938, 128810189], [128813828, 128814012], [128840128, 128840332]]
ENST00000393308 [[128806411, 128810189], [128813828, 128814012], [128840128, 128840335], [128840741, 128840765]] [[128809938, 128810189], [128813828, 128814012], [128840128, 128840332]]
ENST00000393307 [[128806411, 128810189], [128813828, 128814012], [128840128, 128840335], [128840823, 128840857]] [[128809938, 128810189], [128813828, 128814012], [128840128, 128840332]]
ENST00000393305 [[128806411, 128810189], [128813828, 128814012], [128840128, 128840335], [128840947, 128840993]] [[128809938, 128810189], [128813828, 128814012], [128840128, 128840332]]
ENST00000476465 [[128809336, 128810189], [128811342, 128811436], [128813828, 128814012], [128840128, 128840624]] [[128811356, 128811436], [128813828, 128814012], [128840128, 128840332]]
ENST00000457077 [[128813957, 128814012], [128840128, 128840335], [128841332, 128841644]] [[128813957, 128814012], [128840128, 128840332]]
NM_001204887 [[128806411, 128810189], [128811342, 128811436], [128813828, 128814012], [128840128, 128840647]] [[128811356, 128811436], [128813828, 128814012], [128840128, 128840332]]
NM_198490 [[128806411, 128810189], [128813828, 128814012], [128840128, 128840647]] [[128809938, 128810189], [128813828, 128814012], [128840128, 128840332]]
NM_001204888 [[128806411, 128810189], [128813828, 128814012], [128840142, 128840647]] [[128813875, 128814012], [128840142, 128840332]]
NM_001204886 [[128806411, 128810189], [128813828, 128814012], [128840128, 128840335], [128840586, 128840647]] [[128809938, 128810189], [128813828, 128814012], [128840128, 128840332]]
NM_001204885 [[128806411, 128810189], [128813828, 128814012], [128840128, 128840335], [128840741, 128840765]] [[128809938, 128810189], [128813828, 128814012], [128840128, 128840332]]
NM_001204884 [[128806411, 128810189], [128813828, 128814012], [128840128, 128840335], [128840823, 128840857]] [[128809938, 128810189], [128813828, 128814012], [128840128, 128840332]]
NM_001204883 [[128806411, 128810189], [128813828, 128814012], [128840128, 128840335], [128840947, 128840993]] [[128809938, 128810189], [128813828, 128814012], [128840128, 128840332]]
Promoter
Chrom Start End Description
chr3 128840429 128840445 CAGE_peak_4_at_RAB43_5end
chr3 128840447 128840483 CAGE_peak_2_at_RAB43_5end
chr3 128840604 128840655 CAGE_peak_1_at_RAB43_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I129095 129095391 129098748 0.2 [{'connected_gene': 'RAB7A', 'score': 5.76}, {'connected_gene': 'RPL32P3', 'score': 5.04}, {'connected_gene': 'PIR33900', 'score': 0.37}, {'connected_gene': 'PIR45850', 'score': 0.31}, {'connected_gene': 'RAB43', 'score': 0.31}, {'connected_gene': 'GC03M129069', 'score': 0.31}, {'connected_gene': 'ISY1-RAB43', 'score': 0.21}]
chr3 GH03I129251 129251729 129255465 0.56 [{'connected_gene': 'CNBP', 'score': 12.68}, {'connected_gene': 'ISY1', 'score': 12.55}, {'connected_gene': 'RAB43', 'score': 11.32}, {'connected_gene': 'KIAA1257', 'score': 11.1}, {'connected_gene': 'EFCC1', 'score': 11.09}, {'connected_gene': 'GP9', 'score': 10.46}, {'connected_gene': 'HMCES', 'score': 7.2}, {'connected_gene': 'ACAD9', 'score': 5.17}, {'connected_gene': 'COPG1', 'score': 0.77}, {'connected_gene': 'MIR6826', 'score': 0.37}]
chr3 GH03I128984 128984068 128985469 0.2 [{'connected_gene': 'LOC653712', 'score': 22.22}, {'connected_gene': 'KIAA1257', 'score': 11.91}, {'connected_gene': 'GP9', 'score': 11.15}, {'connected_gene': 'RAB43', 'score': 10.51}, {'connected_gene': 'ACAD9', 'score': 5.27}, {'connected_gene': 'ENSG00000187695', 'score': 0.39}, {'connected_gene': 'EFCC1', 'score': 0.37}]
chr3 GH03I128998 128998436 128999600 0.77 [{'connected_gene': 'LOC653712', 'score': 11.54}, {'connected_gene': 'GP9', 'score': 11.19}, {'connected_gene': 'RAB43', 'score': 10.34}, {'connected_gene': 'ACAD9', 'score': 6.09}, {'connected_gene': 'EFCC1', 'score': 0.77}, {'connected_gene': 'ENSG00000187695', 'score': 0.31}, {'connected_gene': 'KIAA1257', 'score': 0.31}]
chr3 GH03I129024 129024950 129027800 1.36 [{'connected_gene': 'KIAA1257', 'score': 550.77}, {'connected_gene': 'EFCC1', 'score': 19.47}, {'connected_gene': 'GP9', 'score': 12.01}, {'connected_gene': 'CNBP', 'score': 11.58}, {'connected_gene': 'RAB43', 'score': 11.38}, {'connected_gene': 'PIR62024', 'score': 0.37}]
chr3 GH03I129050 129050974 129055633 1.39 [{'connected_gene': 'KIAA1257', 'score': 11.3}, {'connected_gene': 'ISY1', 'score': 11.26}, {'connected_gene': 'EFCC1', 'score': 11.22}, {'connected_gene': 'RAB43', 'score': 11.11}, {'connected_gene': 'CNBP', 'score': 10.67}, {'connected_gene': 'RAB7A', 'score': 7.22}, {'connected_gene': 'RPL32P3', 'score': 5.4}, {'connected_gene': 'GP9', 'score': 0.77}, {'connected_gene': 'LOC100130760', 'score': 0.44}]
chr3 GH03I129195 129195202 129198199 1.22 [{'connected_gene': 'ISY1', 'score': 16.12}, {'connected_gene': 'RAB43', 'score': 10.39}, {'connected_gene': 'HMCES', 'score': 5.68}, {'connected_gene': 'ACAD9', 'score': 4.78}, {'connected_gene': 'EFCC1', 'score': 4.25}, {'connected_gene': 'LOC105374101', 'score': 0.39}, {'connected_gene': 'GC03M129220', 'score': 0.34}]
chr3 GH03I129256 129256618 129258851 0.57 [{'connected_gene': 'HMCES', 'score': 14.74}, {'connected_gene': 'ISY1', 'score': 12.29}, {'connected_gene': 'RAB43', 'score': 11.32}, {'connected_gene': 'CNBP', 'score': 11.27}, {'connected_gene': 'KIAA1257', 'score': 11.09}, {'connected_gene': 'EFCC1', 'score': 11.09}, {'connected_gene': 'GP9', 'score': 10.46}, {'connected_gene': 'H1FX-AS1', 'score': 5.63}, {'connected_gene': 'RPL32P3', 'score': 4.87}, {'connected_gene': 'COPG1', 'score': 0.44}, {'connected_gene': 'MIR6826', 'score': 0.39}]
chr3 GH03I129275 129275982 129277319 0.77 [{'connected_gene': 'HMCES', 'score': 29.85}, {'connected_gene': 'H1FX-AS1', 'score': 11.95}, {'connected_gene': 'H1FX', 'score': 11.95}, {'connected_gene': 'NUP210P3', 'score': 11.92}, {'connected_gene': 'CNBP', 'score': 11.26}, {'connected_gene': 'RAB43', 'score': 10.81}, {'connected_gene': 'ACAD9', 'score': 5.71}, {'connected_gene': 'RPL32P3', 'score': 5.58}, {'connected_gene': 'MIR6826', 'score': 0.77}, {'connected_gene': 'COPG1', 'score': 0.31}]
chr19 GH19I008404 8404242 8405172 0.2 [{'connected_gene': 'MARCH2', 'score': 14.84}, {'connected_gene': 'RAB11B-AS1', 'score': 4.84}, {'connected_gene': 'GC19P008401', 'score': 0.77}, {'connected_gene': 'RAB11B', 'score': 0.39}]
chr19 GH19I008361 8361617 8365200 2.44 [{'connected_gene': 'ANGPTL4', 'score': 561.78}, {'connected_gene': 'HNRNPM', 'score': 67.89}, {'connected_gene': 'ZNF317', 'score': 62.29}, {'connected_gene': 'XAB2', 'score': 61.4}, {'connected_gene': 'ZNF699', 'score': 58.54}, {'connected_gene': 'ZNF558', 'score': 57.77}, {'connected_gene': 'MAP2K7', 'score': 43.9}, {'connected_gene': 'ELAVL1', 'score': 42.15}, {'connected_gene': 'ZNF559', 'score': 29.59}, {'connected_gene': 'ZNF414', 'score': 28.26}, {'connected_gene': 'ZNF177', 'score': 16.48}, {'connected_gene': 'RAB11B', 'score': 13.25}, {'connected_gene': 'RAB11B-AS1', 'score': 12.17}, {'connected_gene': 'MARCH2', 'score': 5.98}, {'connected_gene': 'MIR4999', 'score': 0.31}]
chr19 GH19I008542 8542256 8542567 0.26 [{'connected_gene': 'MYO1F', 'score': 20.82}, {'connected_gene': 'PRAM1', 'score': 5.74}, {'connected_gene': 'RAB11B', 'score': 1.24}, {'connected_gene': 'ENSG00000268618', 'score': 0.44}, {'connected_gene': 'ZNF414', 'score': 0.31}]
chr19 GH19I008566 8566854 8574398 1.21 [{'connected_gene': 'MYO1F', 'score': 40.23}, {'connected_gene': 'ZNF266', 'score': 19.92}, {'connected_gene': 'HNRNPM', 'score': 19.59}, {'connected_gene': 'ZNF699', 'score': 19.38}, {'connected_gene': 'ZNF317', 'score': 15.5}, {'connected_gene': 'ZNF558', 'score': 15.19}, {'connected_gene': 'ELAVL1', 'score': 14.3}, {'connected_gene': 'ZNF559', 'score': 12.93}, {'connected_gene': 'XAB2', 'score': 11.99}, {'connected_gene': 'PRAM1', 'score': 11.53}, {'connected_gene': 'MAP2K7', 'score': 10.75}, {'connected_gene': 'CD209', 'score': 10.12}, {'connected_gene': 'ENSG00000267986', 'score': 9.84}, {'connected_gene': 'ZNF426', 'score': 9.73}, {'connected_gene': 'MARCH2', 'score': 3.32}, {'connected_gene': 'RAB11B', 'score': 1.18}, {'connected_gene': 'ENSG00000279396', 'score': 0.44}, {'connected_gene': 'PIR49089', 'score': 0.44}]
chr19 GH19I008354 8354785 8357867 1.41 [{'connected_gene': 'RAB11B', 'score': 12.74}, {'connected_gene': 'ZNF559', 'score': 10.92}, {'connected_gene': 'MARCH2', 'score': 6.71}, {'connected_gene': 'RPS28', 'score': 4.81}, {'connected_gene': 'LOC100129682', 'score': 0.44}, {'connected_gene': 'ANGPTL4', 'score': 0.44}]
chr3 GH03I129116 129116131 129124027 2.68 [{'connected_gene': 'RAB43', 'score': 562.97}, {'connected_gene': 'KIAA1257', 'score': 33.4}, {'connected_gene': 'ISY1', 'score': 14.01}, {'connected_gene': 'GP9', 'score': 13.55}, {'connected_gene': 'EFCC1', 'score': 10.74}, {'connected_gene': 'MBD4', 'score': 6.86}, {'connected_gene': 'ACAD9', 'score': 5.66}, {'connected_gene': 'RPL32P3', 'score': 4.89}, {'connected_gene': 'HMCES', 'score': 4.3}, {'connected_gene': 'CNBP', 'score': 2.8}, {'connected_gene': 'H1FX', 'score': 2.69}, {'connected_gene': 'RAB7A', 'score': 1.38}, {'connected_gene': 'ENSG00000273174', 'score': 0.77}, {'connected_gene': 'PIR33900', 'score': 0.77}, {'connected_gene': 'ISY1-RAB43', 'score': 0.26}]
chr19 GH19I008365 8365601 8368702 1.34 [{'connected_gene': 'RAB11B', 'score': 13.28}, {'connected_gene': 'ENSG00000267510', 'score': 12.05}, {'connected_gene': 'ANGPTL4', 'score': 10.84}, {'connected_gene': 'MARCH2', 'score': 5.85}, {'connected_gene': 'MYO1F', 'score': 5.33}, {'connected_gene': 'MIR4999', 'score': 0.34}]
chr19 GH19I008388 8387709 8397979 2.53 [{'connected_gene': 'RAB11B', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 51.53}, {'connected_gene': 'ELAVL1', 'score': 50.22}, {'connected_gene': 'ZNF699', 'score': 38.92}, {'connected_gene': 'ZNF558', 'score': 38.15}, {'connected_gene': 'XAB2', 'score': 32.85}, {'connected_gene': 'ZNF317', 'score': 23.54}, {'connected_gene': 'ENSG00000269300', 'score': 20.34}, {'connected_gene': 'MAP2K7', 'score': 19.26}, {'connected_gene': 'MARCH2', 'score': 18.5}, {'connected_gene': 'ZNF177', 'score': 13.8}, {'connected_gene': 'ZNF559', 'score': 12.93}, {'connected_gene': 'RAB11B-AS1', 'score': 12.42}, {'connected_gene': 'LOC100128428', 'score': 11.99}, {'connected_gene': 'CD209', 'score': 10.13}, {'connected_gene': 'EVI5L', 'score': 10.05}, {'connected_gene': 'ANGPTL4', 'score': 8.89}, {'connected_gene': 'RPS28', 'score': 4.85}, {'connected_gene': 'MIR4999', 'score': 0.77}, {'connected_gene': 'GC19P008401', 'score': 0.44}]
chr3 GH03I129172 129172602 129174104 0.43 [{'connected_gene': 'RAB43', 'score': 11.5}, {'connected_gene': 'GP9', 'score': 10.59}, {'connected_gene': 'GC03M129158', 'score': 0.44}, {'connected_gene': 'CNBP', 'score': 0.39}]
chr3 GH03I129169 129169164 129172094 0.31 [{'connected_gene': 'RAB43', 'score': 11.52}, {'connected_gene': 'GP9', 'score': 10.59}, {'connected_gene': 'RPL32P3', 'score': 5.2}, {'connected_gene': 'GC03M129158', 'score': 0.77}, {'connected_gene': 'CNBP', 'score': 0.39}, {'connected_gene': 'GC03P129797', 'score': 0.31}]
chr3 GH03I129069 129069557 129069804 0.43 [{'connected_gene': 'RAB43', 'score': 10.96}, {'connected_gene': 'PIR45850', 'score': 0.77}, {'connected_gene': 'GC03M129069', 'score': 0.77}, {'connected_gene': 'PIR33900', 'score': 0.25}]
chr3 GH03I129021 129021927 129023929 0.89 [{'connected_gene': 'GP9', 'score': 11.89}, {'connected_gene': 'CNBP', 'score': 11.57}, {'connected_gene': 'RAB43', 'score': 11.15}, {'connected_gene': 'LOC653712', 'score': 6.47}, {'connected_gene': 'EFCC1', 'score': 5.01}, {'connected_gene': 'ENSG00000261159', 'score': 4.31}, {'connected_gene': 'KIAA1257', 'score': 0.77}, {'connected_gene': 'PIR62024', 'score': 0.37}]
chr3 GH03I129013 129013507 129018830 1.3 [{'connected_gene': 'GP9', 'score': 11.42}, {'connected_gene': 'RAB43', 'score': 11.14}, {'connected_gene': 'ISY1', 'score': 10.87}, {'connected_gene': 'ACAD9', 'score': 5.71}, {'connected_gene': 'RAB7A', 'score': 4.55}, {'connected_gene': 'LOC653712', 'score': 4.05}, {'connected_gene': 'PIR62024', 'score': 0.44}, {'connected_gene': 'EFCC1', 'score': 0.39}, {'connected_gene': 'KIAA1257', 'score': 0.39}]
chr3 GH03I129020 129020500 129021621 0.58 [{'connected_gene': 'GP9', 'score': 11.44}, {'connected_gene': 'RAB43', 'score': 11.14}, {'connected_gene': 'ACAD9', 'score': 5.29}, {'connected_gene': 'KIAA1257', 'score': 0.44}, {'connected_gene': 'PIR62024', 'score': 0.39}, {'connected_gene': 'EFCC1', 'score': 0.37}]
chr3 GH03I129086 129086755 129088692 0.86 [{'connected_gene': 'GP9', 'score': 12.57}, {'connected_gene': 'ENSG00000187695', 'score': 12.09}, {'connected_gene': 'RAB43', 'score': 11.23}, {'connected_gene': 'RPL32P3', 'score': 4.7}, {'connected_gene': 'PIR45850', 'score': 0.34}, {'connected_gene': 'GC03M129069', 'score': 0.34}, {'connected_gene': 'PIR33900', 'score': 0.31}, {'connected_gene': 'ISY1-RAB43', 'score': 0.19}]
chr3 GH03I129575 129575401 129579658 1.51 [{'connected_gene': 'PLXND1', 'score': 5.58}, {'connected_gene': 'ENSG00000250796', 'score': 4.9}, {'connected_gene': 'IFT122', 'score': 4.32}, {'connected_gene': 'EFCAB12', 'score': 4.18}, {'connected_gene': 'HMCES', 'score': 3.09}, {'connected_gene': 'H1FX', 'score': 2.79}, {'connected_gene': 'RAB43', 'score': 2.02}, {'connected_gene': 'MBD4', 'score': 1.57}, {'connected_gene': 'GC03M129561', 'score': 0.39}, {'connected_gene': 'RN7SL752P', 'score': 0.39}]
chr3 GH03I129248 129248298 129250875 2.18 [{'connected_gene': 'COPG1', 'score': 550.77}, {'connected_gene': 'PIR44075', 'score': 550.77}, {'connected_gene': 'HMCES', 'score': 15.1}, {'connected_gene': 'CNBP', 'score': 12.68}, {'connected_gene': 'ISY1', 'score': 12.56}, {'connected_gene': 'RAB43', 'score': 11.17}, {'connected_gene': 'GP9', 'score': 10.26}, {'connected_gene': 'H1FX-AS1', 'score': 5.13}, {'connected_gene': 'MBD4', 'score': 4.28}, {'connected_gene': 'MIR6826', 'score': 0.34}]
chr3 GH03I129103 129103300 129103531 0.42 [{'connected_gene': 'H1FOO', 'score': 15.02}, {'connected_gene': 'PIR33900', 'score': 0.39}, {'connected_gene': 'RAB43', 'score': 0.37}, {'connected_gene': 'PIR45850', 'score': 0.28}, {'connected_gene': 'GC03M129069', 'score': 0.28}, {'connected_gene': 'ISY1-RAB43', 'score': 0.22}]
chr3 GH03I129105 129105589 129107587 0.43 [{'connected_gene': 'RPL32P3', 'score': 4.67}, {'connected_gene': 'PIR33900', 'score': 0.39}, {'connected_gene': 'RAB43', 'score': 0.37}, {'connected_gene': 'PIR45850', 'score': 0.28}, {'connected_gene': 'GC03M129069', 'score': 0.28}, {'connected_gene': 'ISY1-RAB43', 'score': 0.23}]
chr3 GH03I129068 129068166 129069196 0.63 [{'connected_gene': 'PIR45850', 'score': 550.77}, {'connected_gene': 'GC03M129069', 'score': 550.77}, {'connected_gene': 'KIAA1257', 'score': 11.11}, {'connected_gene': 'EFCC1', 'score': 11.05}, {'connected_gene': 'RAB43', 'score': 10.96}, {'connected_gene': 'RPL32P3', 'score': 5.48}, {'connected_gene': 'PIR33900', 'score': 0.25}]
chr3 GH03I129167 129167403 129168699 0.31 [{'connected_gene': 'GC03M129158', 'score': 550.77}, {'connected_gene': 'RAB43', 'score': 11.52}, {'connected_gene': 'GP9', 'score': 10.81}, {'connected_gene': 'RPL32P3', 'score': 5.06}, {'connected_gene': 'CNBP', 'score': 0.37}, {'connected_gene': 'GC03P129797', 'score': 0.31}]
chr3 GH03I129112 129112400 129112601 0.92 [{'connected_gene': 'PIR33900', 'score': 0.77}, {'connected_gene': 'RAB43', 'score': 0.39}, {'connected_gene': 'PIR45850', 'score': 0.25}, {'connected_gene': 'GC03M129069', 'score': 0.25}, {'connected_gene': 'ISY1-RAB43', 'score': 0.25}]
chr3 GH03I129107 129107819 129108825 0.31 [{'connected_gene': 'PIR33900', 'score': 0.44}, {'connected_gene': 'RAB43', 'score': 0.39}, {'connected_gene': 'PIR45850', 'score': 0.26}, {'connected_gene': 'GC03M129069', 'score': 0.26}, {'connected_gene': 'ISY1-RAB43', 'score': 0.23}]
chr3 GH03I129223 129223795 129235799 1.75 [{'connected_gene': 'GC03M129230', 'score': 550.77}, {'connected_gene': 'LOC105374102', 'score': 550.77}, {'connected_gene': 'KIAA1257', 'score': 24.24}, {'connected_gene': 'RAB43', 'score': 23.67}, {'connected_gene': 'CNBP', 'score': 17.84}, {'connected_gene': 'GP9', 'score': 17.81}, {'connected_gene': 'ISY1', 'score': 15.55}, {'connected_gene': 'HMCES', 'score': 14.67}, {'connected_gene': 'MBD4', 'score': 13.58}, {'connected_gene': 'RPL32P3', 'score': 5.23}, {'connected_gene': 'ACAD9', 'score': 4.78}, {'connected_gene': 'POU5F1P6', 'score': 4.3}, {'connected_gene': 'RAB7A', 'score': 4.03}, {'connected_gene': 'RPS27P12', 'score': 0.39}]
chr19 GH19I008398 8398357 8398414 0.58 [{'connected_gene': 'GC19P008401', 'score': 0.77}, {'connected_gene': 'RAB11B-AS1', 'score': 0.44}, {'connected_gene': 'RAB11B', 'score': 0.44}]

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