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
ENST00000433700 [[26947036, 26947144], [26961946, 26962085], [26978125, 26978261], [26980568, 26980617], [26984254, 26984353], [26984496, 26984557], [26988666, 26988726], [26990131, 26990193], [27009017, 27009156], [27011903, 27011966], [27016904, 27017048], [27018644, 27018685], [27029022, 27029102], [27044739, 27044793], [27047271, 27047369], [27048145, 27048272], [27055606, 27055770], [27056331, 27056457], [27060588, 27060649], [27062615, 27062923]] [[26961965, 26962085], [26978125, 26978261], [26980568, 26980617], [26984254, 26984353], [26984496, 26984557], [26988666, 26988726], [26990131, 26990193], [27009017, 27009156], [27011903, 27011966], [27016904, 27017048], [27018644, 27018685], [27029022, 27029102], [27044739, 27044793], [27047271, 27047369], [27048145, 27048272], [27055606, 27055770], [27056331, 27056457], [27060588, 27060649], [27062615, 27062734]]
ENST00000443698 [[26947309, 26947461], [26961946, 26962085], [26978125, 26978261], [26980568, 26980617], [26984254, 26984353], [26984496, 26984557], [26988666, 26988726], [26990131, 26990193], [27009017, 27009156], [27011903, 27011966], [27016904, 27017048], [27018644, 27018685], [27029022, 27029102], [27044739, 27044793], [27047271, 27047369], [27048145, 27048272], [27055606, 27055770], [27056331, 27056457], [27060588, 27060649], [27062615, 27062923]] [[26961965, 26962085], [26978125, 26978261], [26980568, 26980617], [26984254, 26984353], [26984496, 26984557], [26988666, 26988726], [26990131, 26990193], [27009017, 27009156], [27011903, 27011966], [27016904, 27017048], [27018644, 27018685], [27029022, 27029102], [27044739, 27044793], [27047271, 27047369], [27048145, 27048272], [27055606, 27055770], [27056331, 27056457], [27060588, 27060649], [27062615, 27062734]]
ENST00000380062 [[26956370, 26956514], [26961946, 26962085], [26978125, 26978261], [26980568, 26980617], [26984254, 26984353], [26984496, 26984557], [26988666, 26988726], [26990131, 26990193], [27009017, 27009156], [27011903, 27011966], [27016904, 27017048], [27018644, 27018685], [27029022, 27029102], [27044739, 27044793], [27047271, 27047369], [27048145, 27048272], [27055606, 27055770], [27056331, 27056457], [27060588, 27060649], [27062615, 27062928]] [[26961965, 26962085], [26978125, 26978261], [26980568, 26980617], [26984254, 26984353], [26984496, 26984557], [26988666, 26988726], [26990131, 26990193], [27009017, 27009156], [27011903, 27011966], [27016904, 27017048], [27018644, 27018685], [27029022, 27029102], [27044739, 27044793], [27047271, 27047369], [27048145, 27048272], [27055606, 27055770], [27056331, 27056457], [27060588, 27060649], [27062615, 27062734]]
ENST00000429045 [[26956476, 26956514], [26961946, 26962085], [26978125, 26978261], [26980568, 26980617], [26984254, 26984353], [26984496, 26984557], [26988666, 26988726], [26990131, 26990193], [27009017, 27009156], [27011903, 27011966], [27016904, 27017048], [27018644, 27018685], [27029022, 27029102], [27036447, 27036798]] [[26961965, 26962085], [26978125, 26978261], [26980568, 26980617], [26984254, 26984353], [26984496, 26984557], [26988666, 26988726], [26990131, 26990193], [27009017, 27009156], [27011903, 27011966], [27016904, 27017048], [27018644, 27018685], [27029022, 27029102], [27036447, 27036512]]
ENST00000519968 [[26947036, 26947144], [26961946, 26962085], [26978125, 26978261], [26980568, 26980617], [26984254, 26984353], [26984496, 26984557], [26988666, 26988726]] [[26961965, 26962085], [26978125, 26978261], [26980568, 26980617], [26984254, 26984353], [26984496, 26984557], [26988666, 26988726]]
ENST00000517444 [[26947297, 26947461], [26961946, 26962085], [26978125, 26978261], [26980568, 26980617], [26984254, 26984329]] [[26961965, 26962085], [26978125, 26978261], [26980568, 26980617], [26984254, 26984329]]
ENST00000518614 [[26956409, 26956514], [26961946, 26962085], [26978125, 26978261], [26980568, 26980617], [26982283, 26982397], [26984254, 26984274]] [[26961965, 26962085], [26978125, 26978261], [26980568, 26980617], [26982283, 26982397], [26984254, 26984274]]
ENST00000517866 [[26976564, 26976780], [26978125, 26978261], [26980568, 26980617], [26984254, 26984353], [26984496, 26984557], [26988666, 26988726], [26990131, 26990162]] [[26976774, 26976780], [26978125, 26978261], [26980568, 26980617], [26984254, 26984353], [26984496, 26984557], [26988666, 26988726], [26990131, 26990162]]
ENST00000494236 [[26983829, 26984353], [26984496, 26984557], [26988666, 26988695]] None
ENST00000482986 [[27028805, 27029102], [27044739, 27044793], [27047271, 27047369], [27048145, 27048270]] None
NM_001099223 [[26947036, 26947144], [26961946, 26962085], [26978125, 26978261], [26980568, 26980617], [26984254, 26984353], [26984496, 26984557], [26988666, 26988726], [26990131, 26990193], [27009017, 27009156], [27011903, 27011966], [27016904, 27017048], [27018644, 27018685], [27029022, 27029102], [27044739, 27044793], [27047271, 27047369], [27048145, 27048272], [27055606, 27055770], [27056331, 27056457], [27060588, 27060649], [27062615, 27062931]] [[26961965, 26962085], [26978125, 26978261], [26980568, 26980617], [26984254, 26984353], [26984496, 26984557], [26988666, 26988726], [26990131, 26990193], [27009017, 27009156], [27011903, 27011966], [27016904, 27017048], [27018644, 27018685], [27029022, 27029102], [27044739, 27044793], [27047271, 27047369], [27048145, 27048272], [27055606, 27055770], [27056331, 27056457], [27060588, 27060649], [27062615, 27062734]]
NM_001099222 [[26947309, 26947461], [26961946, 26962085], [26978125, 26978261], [26980568, 26980617], [26984254, 26984353], [26984496, 26984557], [26988666, 26988726], [26990131, 26990193], [27009017, 27009156], [27011903, 27011966], [27016904, 27017048], [27018644, 27018685], [27029022, 27029102], [27044739, 27044793], [27047271, 27047369], [27048145, 27048272], [27055606, 27055770], [27056331, 27056457], [27060588, 27060649], [27062615, 27062931]] [[26961965, 26962085], [26978125, 26978261], [26980568, 26980617], [26984254, 26984353], [26984496, 26984557], [26988666, 26988726], [26990131, 26990193], [27009017, 27009156], [27011903, 27011966], [27016904, 27017048], [27018644, 27018685], [27029022, 27029102], [27044739, 27044793], [27047271, 27047369], [27048145, 27048272], [27055606, 27055770], [27056331, 27056457], [27060588, 27060649], [27062615, 27062734]]
NM_001099224 [[26956370, 26956514], [26961946, 26962085], [26978125, 26978261], [26980568, 26980617], [26984254, 26984353], [26984496, 26984557], [26988666, 26988726], [26990131, 26990193], [27009017, 27009156], [27011903, 27011966], [27016904, 27017048], [27018644, 27018685], [27029022, 27029102], [27036447, 27036798]] [[26961965, 26962085], [26978125, 26978261], [26980568, 26980617], [26984254, 26984353], [26984496, 26984557], [26988666, 26988726], [26990131, 26990193], [27009017, 27009156], [27011903, 27011966], [27016904, 27017048], [27018644, 27018685], [27029022, 27029102], [27036447, 27036512]]
NM_025103 [[26956370, 26956514], [26961946, 26962085], [26978125, 26978261], [26980568, 26980617], [26984254, 26984353], [26984496, 26984557], [26988666, 26988726], [26990131, 26990193], [27009017, 27009156], [27011903, 27011966], [27016904, 27017048], [27018644, 27018685], [27029022, 27029102], [27044739, 27044793], [27047271, 27047369], [27048145, 27048272], [27055606, 27055770], [27056331, 27056457], [27060588, 27060649], [27062615, 27062931]] [[26961965, 26962085], [26978125, 26978261], [26980568, 26980617], [26984254, 26984353], [26984496, 26984557], [26988666, 26988726], [26990131, 26990193], [27009017, 27009156], [27011903, 27011966], [27016904, 27017048], [27018644, 27018685], [27029022, 27029102], [27044739, 27044793], [27047271, 27047369], [27048145, 27048272], [27055606, 27055770], [27056331, 27056457], [27060588, 27060649], [27062615, 27062734]]
Promoter
Chrom Start End Description
chr9 26956382 26956463 CAGE_peak_1_at_IFT74_5end
chr9 26956474 26956492 CAGE_peak_6_at_IFT74_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I026945 26945346 26948319 2.29 [{'connected_gene': 'IFT74', 'score': 565.34}, {'connected_gene': 'PLAA', 'score': 552.26}, {'connected_gene': 'CAAP1', 'score': 27.44}, {'connected_gene': 'RN7SL100P', 'score': 0.23}]
chr9 GH09I027336 27336679 27342555 1.13 [{'connected_gene': 'IFT74', 'score': 13.6}, {'connected_gene': 'MOB3B', 'score': 12.37}, {'connected_gene': 'IFNK', 'score': 10.78}, {'connected_gene': 'EQTN', 'score': 10.61}, {'connected_gene': 'ENSG00000237734', 'score': 9.99}, {'connected_gene': 'C9orf72', 'score': 5.38}, {'connected_gene': 'GC09M027375', 'score': 0.28}]
chr9 GH09I027351 27351130 27352775 1.32 [{'connected_gene': 'IFT74', 'score': 23.72}, {'connected_gene': 'MOB3B', 'score': 11.44}, {'connected_gene': 'IFNK', 'score': 10.66}, {'connected_gene': 'C9orf72', 'score': 10.5}, {'connected_gene': 'PLAA', 'score': 1.23}, {'connected_gene': 'GC09M027375', 'score': 0.31}, {'connected_gene': 'EQTN', 'score': 0.23}]
chr9 GH09I026974 26974695 26977659 0.79 [{'connected_gene': 'IFT74', 'score': 37.5}, {'connected_gene': 'LRRC19', 'score': 20.63}, {'connected_gene': 'CAAP1', 'score': 14.99}, {'connected_gene': 'PLAA', 'score': 10.95}, {'connected_gene': 'IFT74-AS1', 'score': 0.37}]
chr9 GH09I027053 27053092 27055000 0.66 [{'connected_gene': 'IFT74', 'score': 15.28}, {'connected_gene': 'LRRC19', 'score': 12.87}, {'connected_gene': 'TEK', 'score': 10.95}, {'connected_gene': 'EQTN', 'score': 9.58}, {'connected_gene': 'ENSG00000254396', 'score': 0.25}]
chr9 GH09I027019 27019097 27020447 0.57 [{'connected_gene': 'IFT74', 'score': 20.15}, {'connected_gene': 'LRRC19', 'score': 17.16}, {'connected_gene': 'ENSG00000254396', 'score': 0.18}]
chr9 GH09I026953 26953839 26957699 2.29 [{'connected_gene': 'IFT74', 'score': 585.17}, {'connected_gene': 'IFT74-AS1', 'score': 550.77}, {'connected_gene': 'CAAP1', 'score': 27.07}, {'connected_gene': 'LRRC19', 'score': 18.85}, {'connected_gene': 'PLAA', 'score': 0.44}]
chr9 GH09I026949 26949469 26950558 0.69 [{'connected_gene': 'CAAP1', 'score': 27.6}, {'connected_gene': 'IFT74', 'score': 26.72}, {'connected_gene': 'LRRC19', 'score': 8.75}, {'connected_gene': 'PLAA', 'score': 0.77}, {'connected_gene': 'IFT74-AS1', 'score': 0.44}]
chr9 GH09I027059 27059113 27060277 0.38 [{'connected_gene': 'CAAP1', 'score': 7.18}, {'connected_gene': 'ENSG00000254396', 'score': 0.26}, {'connected_gene': 'LRRC19', 'score': 0.23}, {'connected_gene': 'IFT74', 'score': 0.14}]
chr9 GH09I027365 27365018 27373527 1.48 [{'connected_gene': 'MOB3B', 'score': 19.35}, {'connected_gene': 'IFT74', 'score': 15.44}, {'connected_gene': 'ENSG00000237734', 'score': 11.35}, {'connected_gene': 'EQTN', 'score': 10.29}, {'connected_gene': 'IFNK', 'score': 9.85}, {'connected_gene': 'C9orf72', 'score': 7.34}, {'connected_gene': 'PLAA', 'score': 1.22}, {'connected_gene': 'GC09M027375', 'score': 0.44}]
chr9 GH09I027332 27332783 27334059 1.33 [{'connected_gene': 'MOB3B', 'score': 13.98}, {'connected_gene': 'IFNK', 'score': 10.94}, {'connected_gene': 'EQTN', 'score': 10.51}, {'connected_gene': 'IFT74', 'score': 5.59}, {'connected_gene': 'C9orf72', 'score': 2.91}, {'connected_gene': 'GC09M027375', 'score': 0.25}]
chr9 GH09I027108 27108747 27113012 1.9 [{'connected_gene': 'TEK', 'score': 552.06}, {'connected_gene': 'IFT74', 'score': 16.5}, {'connected_gene': 'LRRC19', 'score': 5.39}, {'connected_gene': 'PIR32540', 'score': 0.31}]
chr9 GH09I027085 27085860 27090666 0.69 [{'connected_gene': 'TEK', 'score': 12.42}, {'connected_gene': 'CAAP1', 'score': 11.27}, {'connected_gene': 'EQTN', 'score': 9.79}, {'connected_gene': 'IFT74', 'score': 8.81}, {'connected_gene': 'LRRC19', 'score': 7.77}, {'connected_gene': 'ENSG00000254396', 'score': 5.99}]
chr9 GH09I027003 27002926 27006957 0.81 [{'connected_gene': 'LRRC19', 'score': 557.74}, {'connected_gene': 'IFT74', 'score': 17.89}, {'connected_gene': 'IFT74-AS1', 'score': 0.25}]
chr9 GH09I027002 27002383 27002442 0.5 [{'connected_gene': 'LRRC19', 'score': 550.77}, {'connected_gene': 'IFT74-AS1', 'score': 0.25}, {'connected_gene': 'IFT74', 'score': 0.22}]
chr9 GH09I026745 26745941 26748692 0.83 [{'connected_gene': 'ENSG00000254261', 'score': 550.77}, {'connected_gene': 'IFT74', 'score': 6.78}, {'connected_gene': 'ENSG00000252580', 'score': 0.25}]
chr9 GH09I026889 26889997 26893840 2.08 [{'connected_gene': 'GC09P026892', 'score': 550.77}, {'connected_gene': 'CAAP1', 'score': 550.77}, {'connected_gene': 'IFT74', 'score': 45.52}, {'connected_gene': 'LRRC19', 'score': 19.28}, {'connected_gene': 'PLAA', 'score': 11.48}, {'connected_gene': 'ENSG00000232466', 'score': 0.39}]
chr9 GH09I026894 26894103 26894252 0.2 [{'connected_gene': 'GC09P026892', 'score': 550.77}, {'connected_gene': 'RN7SL100P', 'score': 550.77}, {'connected_gene': 'CAAP1', 'score': 550.77}, {'connected_gene': 'PLAA', 'score': 11.2}, {'connected_gene': 'IFT74', 'score': 11.2}, {'connected_gene': 'IFT74-AS1', 'score': 10.55}]

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