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
ENST00000344157 [[69176104, 69180041], [69182031, 69182166], [69184236, 69184299], [69184407, 69184447], [69184543, 69184580], [69185840, 69185923], [69188466, 69188633], [69189856, 69189941], [69195719, 69195837], [69195919, 69196028], [69197820, 69197915], [69198511, 69198565], [69199025, 69199115], [69202744, 69203168], [69203289, 69203618], [69204000, 69204102], [69215443, 69215807]] [[69179816, 69180041], [69182031, 69182166], [69184236, 69184299], [69184407, 69184447], [69184543, 69184580], [69185840, 69185923], [69188466, 69188633], [69189856, 69189941], [69195719, 69195837], [69195919, 69196028], [69197820, 69197915], [69198511, 69198565], [69199025, 69199115], [69202744, 69203168], [69203289, 69203618], [69204000, 69204102], [69215443, 69215471]]
ENST00000355665 [[69179038, 69180041], [69182031, 69182166], [69184236, 69184299], [69184407, 69184447], [69184543, 69184580], [69185840, 69185923], [69188466, 69188633], [69189856, 69189941], [69195719, 69195837], [69195919, 69196028], [69197820, 69197915], [69199025, 69199115], [69202744, 69203168], [69203289, 69203618], [69204000, 69204102], [69215443, 69215807]] [[69179816, 69180041], [69182031, 69182166], [69184236, 69184299], [69184407, 69184447], [69184543, 69184580], [69185840, 69185923], [69188466, 69188633], [69189856, 69189941], [69195719, 69195837], [69195919, 69196028], [69197820, 69197915], [69199025, 69199115], [69202744, 69203168], [69203289, 69203618], [69204000, 69204102], [69215443, 69215471]]
ENST00000579690 [[69179041, 69180041], [69182031, 69182166], [69184236, 69184299], [69184407, 69184471], [69184543, 69184580], [69185840, 69185923], [69188466, 69188633], [69189856, 69189941], [69195719, 69195837], [69195919, 69196028], [69197820, 69197915], [69198511, 69198565], [69199025, 69199115], [69202744, 69203168], [69203289, 69203618], [69204000, 69204102], [69215443, 69215471]] [[69179816, 69180041], [69182031, 69182166], [69184236, 69184299], [69184407, 69184471], [69184543, 69184580], [69185840, 69185923], [69188466, 69188633], [69189856, 69189941], [69195719, 69195837], [69195919, 69196028], [69197820, 69197915], [69198511, 69198565], [69199025, 69199115], [69202744, 69203168], [69203289, 69203618], [69204000, 69204102], [69215443, 69215471]]
ENST00000510746 [[69203557, 69203618], [69204000, 69204102], [69209766, 69209798], [69215443, 69215763]] [[69203557, 69203595]]
ENST00000507529 [[69181572, 69182166], [69184236, 69184299], [69184407, 69184439]] [[69181980, 69182166], [69184236, 69184299], [69184407, 69184439]]
ENST00000506175 [[69188209, 69188633], [69189856, 69189941], [69195719, 69195791]] None
ENST00000505251 [[69203483, 69203618], [69204000, 69204130]] [[69203483, 69203595]]
NM_001330698 [[69176104, 69180041], [69182031, 69182166], [69184236, 69184299], [69184407, 69184471], [69184543, 69184580], [69185840, 69185923], [69188466, 69188633], [69189856, 69189941], [69195719, 69195837], [69195919, 69196028], [69197820, 69197915], [69198511, 69198565], [69199025, 69199115], [69202744, 69203168], [69203289, 69203618], [69204000, 69204102], [69215443, 69215835]] [[69179816, 69180041], [69182031, 69182166], [69184236, 69184299], [69184407, 69184471], [69184543, 69184580], [69185840, 69185923], [69188466, 69188633], [69189856, 69189941], [69195719, 69195837], [69195919, 69196028], [69197820, 69197915], [69198511, 69198565], [69199025, 69199115], [69202744, 69203168], [69203289, 69203618], [69204000, 69204102], [69215443, 69215471]]
NM_001031732 [[69176104, 69180041], [69182031, 69182166], [69184236, 69184299], [69184407, 69184447], [69184543, 69184580], [69185840, 69185923], [69188466, 69188633], [69189856, 69189941], [69195719, 69195837], [69195919, 69196028], [69197820, 69197915], [69198511, 69198565], [69199025, 69199115], [69202744, 69203168], [69203289, 69203618], [69204000, 69204102], [69215443, 69215835]] [[69179816, 69180041], [69182031, 69182166], [69184236, 69184299], [69184407, 69184447], [69184543, 69184580], [69185840, 69185923], [69188466, 69188633], [69189856, 69189941], [69195719, 69195837], [69195919, 69196028], [69197820, 69197915], [69198511, 69198565], [69199025, 69199115], [69202744, 69203168], [69203289, 69203618], [69204000, 69204102], [69215443, 69215471]]
NM_133370 [[69176104, 69180041], [69182031, 69182166], [69184236, 69184299], [69184407, 69184447], [69184543, 69184580], [69185840, 69185923], [69188466, 69188633], [69189856, 69189941], [69195719, 69195837], [69195919, 69196028], [69197820, 69197915], [69199025, 69199115], [69202744, 69203168], [69203289, 69203618], [69204000, 69204102], [69215443, 69215835]] [[69179816, 69180041], [69182031, 69182166], [69184236, 69184299], [69184407, 69184447], [69184543, 69184580], [69185840, 69185923], [69188466, 69188633], [69189856, 69189941], [69195719, 69195837], [69195919, 69196028], [69197820, 69197915], [69199025, 69199115], [69202744, 69203168], [69203289, 69203618], [69204000, 69204102], [69215443, 69215471]]
NM_001330698 [[6026, 9963], [11953, 12088], [14158, 14221], [14329, 14393], [14465, 14502], [15762, 15845], [18388, 18555], [19778, 19863], [25641, 25759], [25841, 25950], [27742, 27837], [28433, 28487], [28947, 29037], [32666, 33090], [33211, 33540], [33922, 34024], [45365, 45757]] [[9738, 9963], [11953, 12088], [14158, 14221], [14329, 14393], [14465, 14502], [15762, 15845], [18388, 18555], [19778, 19863], [25641, 25759], [25841, 25950], [27742, 27837], [28433, 28487], [28947, 29037], [32666, 33090], [33211, 33540], [33922, 34024], [45365, 45393]]
NM_001031732 [[6026, 9963], [11953, 12088], [14158, 14221], [14329, 14369], [14465, 14502], [15762, 15845], [18388, 18555], [19778, 19863], [25641, 25759], [25841, 25950], [27742, 27837], [28433, 28487], [28947, 29037], [32666, 33090], [33211, 33540], [33922, 34024], [45365, 45757]] [[9738, 9963], [11953, 12088], [14158, 14221], [14329, 14369], [14465, 14502], [15762, 15845], [18388, 18555], [19778, 19863], [25641, 25759], [25841, 25950], [27742, 27837], [28433, 28487], [28947, 29037], [32666, 33090], [33211, 33540], [33922, 34024], [45365, 45393]]
NM_133370 [[6026, 9963], [11953, 12088], [14158, 14221], [14329, 14369], [14465, 14502], [15762, 15845], [18388, 18555], [19778, 19863], [25641, 25759], [25841, 25950], [27742, 27837], [28947, 29037], [32666, 33090], [33211, 33540], [33922, 34024], [45365, 45757]] [[9738, 9963], [11953, 12088], [14158, 14221], [14329, 14369], [14465, 14502], [15762, 15845], [18388, 18555], [19778, 19863], [25641, 25759], [25841, 25950], [27742, 27837], [28947, 29037], [32666, 33090], [33211, 33540], [33922, 34024], [45365, 45393]]
Promoter
Chrom Start End Description
chr4 69203316 69203320 CAGE_peak_4_at_YTHDC1_5end
chr4 69215467 69215532 CAGE_peak_2_at_YTHDC1_5end
chr4 69215679 69215688 CAGE_peak_3_at_YTHDC1_5end
chr4 69215699 69215815 CAGE_peak_1_at_YTHDC1_5end
chr4 69215819 69215828 CAGE_peak_5_at_YTHDC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I068372 68372340 68374352 1.03 [{'connected_gene': 'YTHDC1', 'score': 12.77}, {'connected_gene': 'MT2P1', 'score': 0.77}]
chr4 GH04I068389 68389603 68389832 0.2 [{'connected_gene': 'YTHDC1', 'score': 11.48}, {'connected_gene': 'TMPRSS11E', 'score': 11.05}, {'connected_gene': 'UGT2B29P', 'score': 4.84}, {'connected_gene': 'MT2P1', 'score': 0.39}]
chr4 GH04I068388 68388390 68389140 0.2 [{'connected_gene': 'YTHDC1', 'score': 11.48}, {'connected_gene': 'TMPRSS11E', 'score': 11.05}, {'connected_gene': 'MT2P1', 'score': 0.39}]
chr4 GH04I068346 68346202 68351374 2.46 [{'connected_gene': 'YTHDC1', 'score': 564.85}, {'connected_gene': 'CENPC', 'score': 29.78}, {'connected_gene': 'UBA6', 'score': 19.6}, {'connected_gene': 'ENSG00000270257', 'score': 10.68}, {'connected_gene': 'UGT2B29P', 'score': 4.52}, {'connected_gene': 'TMPRSS11BNL', 'score': 4.38}, {'connected_gene': 'APOOP4', 'score': 0.26}]
chr4 GH04I068341 68341515 68342551 0.31 [{'connected_gene': 'YTHDC1', 'score': 0.44}, {'connected_gene': 'APOOP4', 'score': 0.28}]
chr4 GH04I068334 68334133 68334929 0.2 [{'connected_gene': 'YTHDC1', 'score': 0.37}, {'connected_gene': 'APOOP4', 'score': 0.31}]
chr4 GH04I068343 68343001 68343200 0.4 [{'connected_gene': 'YTHDC1', 'score': 0.44}, {'connected_gene': 'APOOP4', 'score': 0.28}]
chr4 GH04I067697 67697786 67702591 2.45 [{'connected_gene': 'UBA6', 'score': 594.91}, {'connected_gene': 'UBA6-AS1', 'score': 571.97}, {'connected_gene': 'CENPC', 'score': 30.56}, {'connected_gene': 'YTHDC1', 'score': 13.23}, {'connected_gene': 'ENSG00000270257', 'score': 11.97}, {'connected_gene': 'STAP1', 'score': 10.92}, {'connected_gene': 'TMPRSS11D', 'score': 9.67}, {'connected_gene': 'GC04P067653', 'score': 0.25}]
chr4 GH04I068366 68366219 68371008 1.08 [{'connected_gene': 'UGT2B29P', 'score': 5.52}, {'connected_gene': 'TMPRSS11BNL', 'score': 4.34}, {'connected_gene': 'MT2P1', 'score': 0.44}, {'connected_gene': 'YTHDC1', 'score': 0.37}]
chr4 GH04I068376 68376083 68376401 1.36 [{'connected_gene': 'MT2P1', 'score': 550.77}, {'connected_gene': 'YTHDC1', 'score': 12.75}]
chr4 GH04I068339 68339284 68340798 0.2 [{'connected_gene': 'TMPRSS11BNL', 'score': 4.4}, {'connected_gene': 'YTHDC1', 'score': 0.39}, {'connected_gene': 'APOOP4', 'score': 0.28}]
chr4 GH04I068360 68360231 68362223 1.29 [{'connected_gene': 'TMPRSS11BNL', 'score': 4.81}, {'connected_gene': 'UGT2B29P', 'score': 4.52}, {'connected_gene': 'YTHDC1', 'score': 0.39}, {'connected_gene': 'MT2P1', 'score': 0.37}]
chr4 GH04I068353 68353291 68353526 0.22 [{'connected_gene': 'TMPRSS11BNL', 'score': 4.79}, {'connected_gene': 'UGT2B29P', 'score': 4.42}, {'connected_gene': 'YTHDC1', 'score': 0.77}, {'connected_gene': 'MT2P1', 'score': 0.34}]
chr4 GH04I068267 68266352 68266744 0.46 [{'connected_gene': 'TMPRSS11B', 'score': 11.36}, {'connected_gene': 'YTHDC1', 'score': 10.98}, {'connected_gene': 'GCOM2', 'score': 6.82}, {'connected_gene': 'ENSG00000250642', 'score': 0.37}]
chr4 GH04I068266 68266939 68268576 0.9 [{'connected_gene': 'TMPRSS11B', 'score': 11.36}, {'connected_gene': 'YTHDC1', 'score': 10.98}, {'connected_gene': 'GCOM2', 'score': 4.81}, {'connected_gene': 'ENSG00000250642', 'score': 0.37}]
chr4 GH04I068271 68271774 68274587 0.8 [{'connected_gene': 'TMPRSS11B', 'score': 11.34}, {'connected_gene': 'YTHDC1', 'score': 10.98}, {'connected_gene': 'GCOM2', 'score': 6.03}, {'connected_gene': 'ENSG00000250642', 'score': 0.39}]
chr4 GH04I067543 67543755 67546510 2.23 [{'connected_gene': 'CENPC', 'score': 593.82}, {'connected_gene': 'UBA6', 'score': 24.54}, {'connected_gene': 'YTHDC1', 'score': 13.46}, {'connected_gene': 'LOC101927237', 'score': 11.52}, {'connected_gene': 'ENSG00000270257', 'score': 10.95}, {'connected_gene': 'STAP1', 'score': 10.02}, {'connected_gene': 'GCOM2', 'score': 4.31}, {'connected_gene': 'GC04M067379', 'score': 0.37}]
chr4 GH04I068344 68344401 68345600 0.69 [{'connected_gene': 'APOOP4', 'score': 4.96}, {'connected_gene': 'TMPRSS11BNL', 'score': 4.33}, {'connected_gene': 'YTHDC1', 'score': 0.44}]
chr4 GH04I067720 67720410 67722857 1.39 [{'connected_gene': 'PIR51733', 'score': 550.77}, {'connected_gene': 'PIR61967', 'score': 550.77}, {'connected_gene': 'UBA6', 'score': 33.34}, {'connected_gene': 'UBA6-AS1', 'score': 21.88}, {'connected_gene': 'CENPC', 'score': 19.77}, {'connected_gene': 'YTHDC1', 'score': 13.23}, {'connected_gene': 'ENSG00000270257', 'score': 11.94}, {'connected_gene': 'GNRHR', 'score': 11.15}, {'connected_gene': 'LOC100419862', 'score': 0.77}, {'connected_gene': 'GC04P067653', 'score': 0.2}]