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
ENST00000544907 [[26662627, 26662882], [26667334, 26667504], [26668262, 26668352], [26668429, 26668482], [26669272, 26669468], [26671389, 26672281]] [[26667441, 26667504], [26668262, 26668352], [26668429, 26668482], [26669272, 26669468], [26671389, 26671626]]
ENST00000578158 [[26662678, 26662778], [26666433, 26666752], [26667334, 26667451]] [[26666547, 26666752], [26667334, 26667451]]
ENST00000226225 [[26662729, 26662882], [26666433, 26666752], [26667334, 26667504], [26668262, 26668352], [26668429, 26668482], [26669272, 26669468], [26671389, 26674035]] [[26666547, 26666752], [26667334, 26667504], [26668262, 26668352], [26668429, 26668482], [26669272, 26669468], [26671389, 26671626]]
ENST00000583213 [[26662786, 26662882], [26668262, 26668352], [26668429, 26668482], [26669272, 26669468], [26671389, 26671536]] None
ENST00000582302 [[26663492, 26663582], [26666433, 26666752], [26667334, 26667504]] [[26666547, 26666752], [26667334, 26667504]]
ENST00000577535 [[26667431, 26667504], [26668262, 26668352], [26668429, 26668482], [26669272, 26669538]] [[26667441, 26667504], [26668262, 26668352], [26668429, 26668482], [26669272, 26669538]]
NM_021137 [[26662547, 26662882], [26666433, 26666752], [26667334, 26667504], [26668262, 26668352], [26668429, 26668482], [26669272, 26669468], [26671389, 26674035]] [[26666547, 26666752], [26667334, 26667504], [26668262, 26668352], [26668429, 26668482], [26669272, 26669468], [26671389, 26671626]]
Promoter
Chrom Start End Description
chr17 26662597 26662626 CAGE_peak_2_at_TNFAIP1_5end
chr17 26662709 26662720 CAGE_peak_3_at_TNFAIP1_5end
chr17 26662732 26662844 CAGE_peak_1_at_TNFAIP1_5end
chr17 26666646 26666660 CAGE_peak_4_at_TNFAIP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I028345 28345085 28348479 1.23 [{'connected_gene': 'VTN', 'score': 8.12}, {'connected_gene': 'PIR31294', 'score': 0.77}, {'connected_gene': 'PIR62966', 'score': 0.44}, {'connected_gene': 'TNFAIP1', 'score': 0.39}, {'connected_gene': 'POLDIP2', 'score': 0.39}]
chr17 GH17I028333 28333915 28339817 2.29 [{'connected_gene': 'TNFAIP1', 'score': 550.77}, {'connected_gene': 'IFT20', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 26.21}, {'connected_gene': 'ENSG00000264577', 'score': 24.74}, {'connected_gene': 'NUFIP2', 'score': 24.02}, {'connected_gene': 'ITM2BP1', 'score': 20.74}, {'connected_gene': 'RPL23A', 'score': 12.34}, {'connected_gene': 'TMEM97', 'score': 12.33}, {'connected_gene': 'NEK8', 'score': 12.23}, {'connected_gene': 'POLDIP2', 'score': 12.21}, {'connected_gene': 'TMEM199', 'score': 12.02}, {'connected_gene': 'LOC101927018', 'score': 11.86}, {'connected_gene': 'ENSG00000265474', 'score': 11.23}, {'connected_gene': 'ENSG00000265908', 'score': 10.58}, {'connected_gene': 'PHF12', 'score': 10.52}, {'connected_gene': 'RAB34', 'score': 10.21}, {'connected_gene': 'VTN', 'score': 7.78}, {'connected_gene': 'PIR55130', 'score': 0.44}]
chr17 GH17I028393 28393995 28399737 0.8 [{'connected_gene': 'POLDIP2', 'score': 23.36}, {'connected_gene': 'VTN', 'score': 11.72}, {'connected_gene': 'SARM1', 'score': 11.68}, {'connected_gene': 'TMEM199', 'score': 11.66}, {'connected_gene': 'TNFAIP1', 'score': 11.29}, {'connected_gene': 'IFT20', 'score': 11.29}, {'connected_gene': 'FOXN1', 'score': 10.81}, {'connected_gene': 'UNC119', 'score': 10.44}, {'connected_gene': 'PIGS', 'score': 10.43}, {'connected_gene': 'GC17M029117', 'score': 0.77}, {'connected_gene': 'SLC46A1', 'score': 0.39}, {'connected_gene': 'ENSG00000279532', 'score': 0.34}]
chr17 GH17I028380 28380262 28380431 0.92 [{'connected_gene': 'ITM2BP1', 'score': 16.8}, {'connected_gene': 'ENSG00000264577', 'score': 16.73}, {'connected_gene': 'SUPT6H', 'score': 16.35}, {'connected_gene': 'NUFIP2', 'score': 15.11}, {'connected_gene': 'ENSG00000265205', 'score': 14.85}, {'connected_gene': 'ENSG00000265908', 'score': 13.86}, {'connected_gene': 'PHF12', 'score': 12.25}, {'connected_gene': 'SLC46A1', 'score': 11.98}, {'connected_gene': 'RPL23A', 'score': 11.23}, {'connected_gene': 'SDF2', 'score': 11.21}, {'connected_gene': 'TNFAIP1', 'score': 11.17}, {'connected_gene': 'IFT20', 'score': 11.17}, {'connected_gene': 'PIGS', 'score': 10.31}, {'connected_gene': 'ENSG00000279532', 'score': 0.44}, {'connected_gene': 'SARM1', 'score': 0.37}, {'connected_gene': 'GC17M029117', 'score': 0.34}, {'connected_gene': 'ENSG00000258924', 'score': 0.34}]
chr17 GH17I028277 28277811 28279000 0.95 [{'connected_gene': 'PIR58208', 'score': 550.77}, {'connected_gene': 'GC17M029101', 'score': 550.77}, {'connected_gene': 'TNFAIP1', 'score': 10.9}, {'connected_gene': 'IFT20', 'score': 10.9}, {'connected_gene': 'NOS2', 'score': 3.97}, {'connected_gene': 'PIRC93', 'score': 0.44}, {'connected_gene': 'KRT18P55', 'score': 0.28}]
chr17 GH17I027980 27980000 27982177 1.14 [{'connected_gene': 'ENSG00000251818', 'score': 11.71}, {'connected_gene': 'ENSG00000202389', 'score': 11.7}, {'connected_gene': 'NLK', 'score': 7.0}, {'connected_gene': 'PYY2', 'score': 6.56}, {'connected_gene': 'TNFAIP1', 'score': 1.26}, {'connected_gene': 'LINC01992', 'score': 0.39}, {'connected_gene': 'GC17M027891', 'score': 0.17}, {'connected_gene': 'LYRM9', 'score': 0.17}]