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
ENST00000586218 [[11453451, 11453796], [11455927, 11456091], [11456802, 11456886]] [[11453490, 11453796], [11455927, 11456008]]
ENST00000593256 [[11453451, 11453796], [11455927, 11456091], [11456195, 11456304], [11456802, 11456976]] [[11453490, 11453796], [11455927, 11456091], [11456195, 11456295]]
ENST00000447337 [[11453451, 11453796], [11455927, 11456091], [11456195, 11456304], [11456683, 11456981]] [[11453490, 11453796], [11455927, 11456091], [11456195, 11456295]]
ENST00000354882 [[11453453, 11453796], [11455927, 11456091], [11456195, 11456722]] [[11453490, 11453796], [11455927, 11456091], [11456195, 11456295]]
ENST00000585722 [[11453453, 11453796], [11455927, 11456731]] None
ENST00000586590 [[11453453, 11453796], [11455927, 11456091], [11456195, 11456304], [11456883, 11456944]] [[11453490, 11453796], [11455927, 11456091], [11456195, 11456295]]
ENST00000586956 [[11453453, 11453796], [11455927, 11456091], [11456195, 11456413], [11456683, 11456961]] [[11453490, 11453796], [11455927, 11456091], [11456195, 11456295]]
ENST00000589555 [[11453454, 11453796], [11455927, 11456091], [11456195, 11456413], [11456883, 11456947]] [[11453490, 11453796], [11455927, 11456091], [11456195, 11456295]]
ENST00000587948 [[11453454, 11453796], [11455927, 11456091], [11456195, 11456304], [11457009, 11457082]] [[11453490, 11453796], [11455927, 11456091], [11456195, 11456295]]
ENST00000588560 [[11453460, 11453796], [11455927, 11456091], [11456195, 11456413], [11456802, 11456924]] [[11453490, 11453796], [11455927, 11456091], [11456195, 11456295]]
ENST00000588321 [[11453485, 11453776], [11455913, 11456932]] None
ENST00000586701 [[11453517, 11453796], [11455927, 11456091], [11456883, 11457003]] [[11453517, 11453796], [11455927, 11456008]]
ENST00000592952 [[11453525, 11453796], [11456195, 11456304], [11456883, 11456931]] [[11453525, 11453796], [11456195, 11456295]]
ENST00000590482 [[11453548, 11453796], [11455927, 11456091], [11456195, 11456304], [11457096, 11457194]] [[11453548, 11453796], [11455927, 11456091], [11456195, 11456295]]
ENST00000591677 [[11453739, 11453796], [11455927, 11456091], [11456195, 11456304], [11456683, 11456981]] [[11453739, 11453796], [11455927, 11456091], [11456195, 11456295]]
ENST00000590788 [[11455927, 11456091], [11456195, 11456304], [11456818, 11456938]] [[11455927, 11456091], [11456195, 11456295]]
NM_198536 [[11453451, 11453796], [11455927, 11456091], [11456195, 11456981]] [[11453490, 11453796], [11455927, 11456091], [11456195, 11456295]]
NM_033408 [[11453451, 11453796], [11455927, 11456091], [11456195, 11456304], [11456683, 11456981]] [[11453490, 11453796], [11455927, 11456091], [11456195, 11456295]]
NM_001321112 [[11453451, 11453796], [11455927, 11456091], [11456195, 11456413], [11456802, 11456981]] [[11453490, 11453796], [11455927, 11456091], [11456195, 11456295]]
NM_001145416 [[11453451, 11453796], [11455927, 11456091], [11456195, 11456304], [11456802, 11456981]] [[11453490, 11453796], [11455927, 11456091], [11456195, 11456295]]
NM_001321114 [[11453451, 11453796], [11455927, 11456091], [11456195, 11456413], [11456883, 11456981]] [[11453490, 11453796], [11455927, 11456091], [11456195, 11456295]]
NM_001321113 [[11453451, 11453796], [11455927, 11456091], [11456195, 11456304], [11456883, 11456981]] [[11453490, 11453796], [11455927, 11456091], [11456195, 11456295]]
Promoter
Chrom Start End Description
chr19 11456842 11456853 CAGE_peak_4_at_TMEM205_5end
chr19 11456872 11456896 CAGE_peak_3_at_TMEM205_5end
chr19 11456905 11456930 CAGE_peak_2_at_TMEM205_5end
chr19 11456935 11456981 CAGE_peak_1_at_TMEM205_5end
chr19 11457102 11457109 CAGE_peak_10_at_TMEM205_5end
chr19 11457128 11457146 CAGE_peak_6_at_TMEM205_5end
chr19 11457162 11457170 CAGE_peak_7_at_TMEM205_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I011034 11034456 11037071 0.88 [{'connected_gene': 'SMARCA4', 'score': 9.15}, {'connected_gene': 'ILF3-AS1', 'score': 7.66}, {'connected_gene': 'TMEM205', 'score': 4.31}, {'connected_gene': 'ENSG00000278643', 'score': 0.77}, {'connected_gene': 'PIR38577', 'score': 0.37}]
chr19 GH19I011369 11369725 11369854 0.6 [{'connected_gene': 'TMEM205', 'score': 12.65}, {'connected_gene': 'RAB3D', 'score': 12.65}, {'connected_gene': 'CCDC159', 'score': 12.63}, {'connected_gene': 'TSPAN16', 'score': 12.11}, {'connected_gene': 'SWSAP1', 'score': 0.77}, {'connected_gene': 'ENSG00000267277', 'score': 0.44}, {'connected_gene': 'PLPPR2', 'score': 0.39}]
chr19 GH19I011380 11379565 11379714 0.49 [{'connected_gene': 'TMEM205', 'score': 12.18}, {'connected_gene': 'CCDC159', 'score': 12.18}, {'connected_gene': 'RAB3D', 'score': 12.18}, {'connected_gene': 'EPOR', 'score': 0.77}, {'connected_gene': 'PIR61774', 'score': 0.77}]
chr19 GH19I011379 11379797 11384934 2.3 [{'connected_gene': 'EPOR', 'score': 550.77}, {'connected_gene': 'KRI1', 'score': 50.83}, {'connected_gene': 'ILF3', 'score': 48.58}, {'connected_gene': 'TIMM29', 'score': 33.13}, {'connected_gene': 'ZNF44', 'score': 30.47}, {'connected_gene': 'ZNF136', 'score': 28.81}, {'connected_gene': 'ZNF433', 'score': 22.96}, {'connected_gene': 'ZNF878', 'score': 22.76}, {'connected_gene': 'ZNF20', 'score': 20.78}, {'connected_gene': 'ZNF563', 'score': 18.33}, {'connected_gene': 'ZNF763', 'score': 17.76}, {'connected_gene': 'CDC37', 'score': 15.06}, {'connected_gene': 'ZNF700', 'score': 14.29}, {'connected_gene': 'ZNF844', 'score': 14.28}, {'connected_gene': 'ZNF441', 'score': 14.11}, {'connected_gene': 'RGL3', 'score': 14.08}, {'connected_gene': 'ZNF627', 'score': 13.75}, {'connected_gene': 'SWSAP1', 'score': 12.63}, {'connected_gene': 'ENSG00000242615', 'score': 12.32}, {'connected_gene': 'TMEM205', 'score': 12.16}, {'connected_gene': 'CCDC159', 'score': 12.16}, {'connected_gene': 'RAB3D', 'score': 12.16}, {'connected_gene': 'ZNF442', 'score': 12.03}, {'connected_gene': 'ZNF433-AS1', 'score': 11.2}, {'connected_gene': 'CARM1', 'score': 10.9}, {'connected_gene': 'LOC100289333', 'score': 9.76}, {'connected_gene': 'KANK2', 'score': 4.69}, {'connected_gene': 'PIR61774', 'score': 0.44}]
chr19 GH19I011115 11115818 11117092 0.43 [{'connected_gene': 'SPC24', 'score': 5.69}, {'connected_gene': 'TMEM205', 'score': 4.98}, {'connected_gene': 'MIR6886', 'score': 0.77}, {'connected_gene': 'LDLR', 'score': 0.31}]
chr19 GH19I011105 11105794 11107153 0.77 [{'connected_gene': 'SPC24', 'score': 6.06}, {'connected_gene': 'TMEM205', 'score': 4.47}, {'connected_gene': 'MIR6886', 'score': 0.44}, {'connected_gene': 'LDLR', 'score': 0.37}]
chr19 GH19I011113 11113018 11113937 0.43 [{'connected_gene': 'MIR6886', 'score': 550.77}, {'connected_gene': 'TMEM205', 'score': 4.98}, {'connected_gene': 'LDLR', 'score': 0.34}, {'connected_gene': 'SPC24', 'score': 0.26}]
chr19 GH19I011343 11343256 11348236 2.12 [{'connected_gene': 'PIR37751', 'score': 550.77}, {'connected_gene': 'CCDC159', 'score': 550.77}, {'connected_gene': 'TMEM205', 'score': 550.77}, {'connected_gene': 'PIR44072', 'score': 550.77}, {'connected_gene': 'RAB3D', 'score': 550.77}, {'connected_gene': 'ILF3', 'score': 92.13}, {'connected_gene': 'ZNF136', 'score': 78.4}, {'connected_gene': 'KRI1', 'score': 77.84}, {'connected_gene': 'ZNF627', 'score': 62.92}, {'connected_gene': 'ZNF844', 'score': 55.62}, {'connected_gene': 'ZNF44', 'score': 52.29}, {'connected_gene': 'ZNF625', 'score': 43.61}, {'connected_gene': 'TIMM29', 'score': 43.51}, {'connected_gene': 'ZNF20', 'score': 42.87}, {'connected_gene': 'ZNF441', 'score': 41.48}, {'connected_gene': 'ZNF491', 'score': 34.62}, {'connected_gene': 'ZNF763', 'score': 33.85}, {'connected_gene': 'ZNF433', 'score': 33.84}, {'connected_gene': 'ZNF700', 'score': 29.7}, {'connected_gene': 'ZNF788', 'score': 23.81}, {'connected_gene': 'ZNF878', 'score': 22.8}, {'connected_gene': 'CDC37', 'score': 22.57}, {'connected_gene': 'ENSG00000242615', 'score': 21.46}, {'connected_gene': 'ZNF440', 'score': 18.47}, {'connected_gene': 'ZNF823', 'score': 13.4}, {'connected_gene': 'YIPF2', 'score': 11.18}, {'connected_gene': 'ZNF887P', 'score': 11.18}, {'connected_gene': 'ILF3-AS1', 'score': 11.08}, {'connected_gene': 'CARM1', 'score': 10.91}, {'connected_gene': 'ZNF439', 'score': 10.8}, {'connected_gene': 'RPL28P5', 'score': 10.69}, {'connected_gene': 'QTRT1', 'score': 9.74}, {'connected_gene': 'RPL18AP13', 'score': 9.72}, {'connected_gene': 'ENSG00000267174', 'score': 6.44}]
chr19 GH19I011373 11373205 11379434 2.53 [{'connected_gene': 'PIR61774', 'score': 550.77}, {'connected_gene': 'ENSG00000267277', 'score': 550.77}, {'connected_gene': 'SWSAP1', 'score': 550.77}, {'connected_gene': 'ILF3', 'score': 48.6}, {'connected_gene': 'KRI1', 'score': 43.59}, {'connected_gene': 'ZNF627', 'score': 37.21}, {'connected_gene': 'ZNF136', 'score': 35.31}, {'connected_gene': 'ZNF442', 'score': 35.14}, {'connected_gene': 'ZNF844', 'score': 34.32}, {'connected_gene': 'ZNF44', 'score': 29.56}, {'connected_gene': 'TIMM29', 'score': 29.24}, {'connected_gene': 'ZNF625', 'score': 24.43}, {'connected_gene': 'ZNF823', 'score': 23.77}, {'connected_gene': 'ZNF491', 'score': 23.26}, {'connected_gene': 'ZNF563', 'score': 22.85}, {'connected_gene': 'ZNF20', 'score': 21.65}, {'connected_gene': 'ZNF763', 'score': 18.75}, {'connected_gene': 'ZNF441', 'score': 12.34}, {'connected_gene': 'TMEM205', 'score': 12.2}, {'connected_gene': 'CCDC159', 'score': 12.18}, {'connected_gene': 'RAB3D', 'score': 12.18}, {'connected_gene': 'YIPF2', 'score': 12.07}, {'connected_gene': 'ZNF878', 'score': 11.83}, {'connected_gene': 'HNRNPA1P10', 'score': 11.52}, {'connected_gene': 'ZNF887P', 'score': 11.18}, {'connected_gene': 'CARM1', 'score': 10.9}, {'connected_gene': 'ZNF700', 'score': 10.41}, {'connected_gene': 'RPL18AP13', 'score': 9.74}, {'connected_gene': 'QTRT1', 'score': 9.73}, {'connected_gene': 'CDC37', 'score': 9.73}, {'connected_gene': 'PLPPR2', 'score': 7.81}, {'connected_gene': 'ELAVL3', 'score': 6.16}, {'connected_gene': 'PRKCSH', 'score': 5.16}, {'connected_gene': 'ZNF439', 'score': 2.17}, {'connected_gene': 'CCDC151', 'score': 2.05}, {'connected_gene': 'ZNF653', 'score': 2.01}, {'connected_gene': 'SMARCA4', 'score': 1.58}, {'connected_gene': 'EPOR', 'score': 0.44}]