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
ENST00000226230 [[26646120, 26646391], [26652528, 26652673], [26653559, 26655707]] [[26646265, 26646391], [26652528, 26652673], [26653559, 26653819]]
ENST00000583381 [[26646227, 26646285], [26646358, 26646391], [26652528, 26652673], [26653559, 26653901]] [[26653609, 26653819]]
ENST00000582113 [[26646231, 26646391], [26652528, 26652861]] [[26646265, 26646391], [26652528, 26652681]]
ENST00000582384 [[26646294, 26646391], [26653559, 26654537]] [[26646294, 26646391], [26653559, 26653819]]
ENST00000336687 [[26646480, 26646723], [26651715, 26651750], [26652528, 26652673], [26653559, 26655251]] [[26653609, 26653819]]
NM_014573 [[26646120, 26646391], [26652528, 26652673], [26653559, 26655711]] [[26646265, 26646391], [26652528, 26652673], [26653559, 26653819]]
Promoter
Chrom Start End Description
chr17 26646122 26646133 CAGE_peak_2_at_TMEM97_5end
chr17 26646150 26646153 CAGE_peak_4_at_TMEM97_5end
chr17 26646161 26646168 CAGE_peak_3_at_TMEM97_5end
chr17 26646175 26646241 CAGE_peak_1_at_TMEM97_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I028500 28500953 28501306 0.95 [{'connected_gene': 'UNC119', 'score': 12.67}, {'connected_gene': 'PIGS', 'score': 11.5}, {'connected_gene': 'SPAG5-AS1', 'score': 11.01}, {'connected_gene': 'SGK494', 'score': 11.0}, {'connected_gene': 'SLC46A1', 'score': 10.71}, {'connected_gene': 'KIAA0100', 'score': 9.8}, {'connected_gene': 'FOXN1', 'score': 5.36}, {'connected_gene': 'SPAG5', 'score': 2.44}, {'connected_gene': 'SEBOX', 'score': 1.8}, {'connected_gene': 'TMEM97', 'score': 1.58}, {'connected_gene': 'RPL23A', 'score': 1.26}, {'connected_gene': 'SLC13A2', 'score': 0.31}, {'connected_gene': 'ENSG00000258472', 'score': 0.14}]
chr17 GH17I028480 28480161 28481749 0.51 [{'connected_gene': 'FOXN1', 'score': 17.55}, {'connected_gene': 'SLC46A1', 'score': 11.27}, {'connected_gene': 'UNC119', 'score': 10.78}, {'connected_gene': 'PIGS', 'score': 10.75}, {'connected_gene': 'TMEM97', 'score': 4.36}, {'connected_gene': 'SLC13A2', 'score': 0.44}, {'connected_gene': 'ENSG00000258472', 'score': 0.12}]
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 GH17I028282 28282002 28283787 0.97 [{'connected_gene': 'TMEM97', 'score': 12.11}, {'connected_gene': 'SUPT6H', 'score': 9.94}, {'connected_gene': 'POLDIP2', 'score': 4.87}, {'connected_gene': 'SARM1', 'score': 4.86}, {'connected_gene': 'PIRC93', 'score': 0.77}, {'connected_gene': 'PIR58208', 'score': 0.44}, {'connected_gene': 'GC17M029101', 'score': 0.44}, {'connected_gene': 'KRT18P55', 'score': 0.29}]
chr17 GH17I028317 28317529 28321207 2.04 [{'connected_gene': 'TMEM97', 'score': 564.02}, {'connected_gene': 'PIR55263', 'score': 550.77}, {'connected_gene': 'KRT18P55', 'score': 550.77}, {'connected_gene': 'LOC101927018', 'score': 31.72}, {'connected_gene': 'SUPT6H', 'score': 30.82}, {'connected_gene': 'NUFIP2', 'score': 28.42}, {'connected_gene': 'ENSG00000264577', 'score': 27.01}, {'connected_gene': 'PHF12', 'score': 25.72}, {'connected_gene': 'ENSG00000265908', 'score': 24.26}, {'connected_gene': 'ITM2BP1', 'score': 19.95}, {'connected_gene': 'TMEM199', 'score': 19.62}, {'connected_gene': 'PIGS', 'score': 12.45}, {'connected_gene': 'SDF2', 'score': 12.45}, {'connected_gene': 'ENSG00000265205', 'score': 11.58}, {'connected_gene': 'SLC46A1', 'score': 10.61}, {'connected_gene': 'VTN', 'score': 10.34}, {'connected_gene': 'TRAF4', 'score': 4.67}, {'connected_gene': 'GC17M029020', 'score': 0.39}]
chr17 GH17I028188 28188915 28190466 0.88 [{'connected_gene': 'TMEM199', 'score': 11.69}, {'connected_gene': 'TMEM97', 'score': 4.8}, {'connected_gene': 'LOC105371710', 'score': 0.34}, {'connected_gene': 'GC17M028133', 'score': 0.22}, {'connected_gene': 'NLK', 'score': 0.11}]
chr17 GH17I028323 28323955 28326871 0.94 [{'connected_gene': 'SLC46A1', 'score': 10.61}, {'connected_gene': 'VTN', 'score': 10.24}, {'connected_gene': 'TRAF4', 'score': 4.73}, {'connected_gene': 'GC17M029020', 'score': 0.77}, {'connected_gene': 'TMEM97', 'score': 0.44}]
chr17 GH17I028403 28403896 28408945 2.01 [{'connected_gene': 'SLC46A1', 'score': 550.77}, {'connected_gene': 'ENSG00000265254', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 14.68}, {'connected_gene': 'NUFIP2', 'score': 14.11}, {'connected_gene': 'NEK8', 'score': 12.24}, {'connected_gene': 'ENSG00000264577', 'score': 11.53}, {'connected_gene': 'ENSG00000265474', 'score': 11.23}, {'connected_gene': 'POLDIP2', 'score': 10.68}, {'connected_gene': 'ITM2BP1', 'score': 10.47}, {'connected_gene': 'TMEM97', 'score': 5.09}, {'connected_gene': 'NOS2', 'score': 3.92}, {'connected_gene': 'GC17P028402', 'score': 0.77}, {'connected_gene': 'SARM1', 'score': 0.26}]
chr17 GH17I028326 28326914 28327285 0.54 [{'connected_gene': 'SLC46A1', 'score': 10.61}, {'connected_gene': 'GC17M029020', 'score': 0.77}, {'connected_gene': 'TMEM97', 'score': 0.44}]
chr17 GH17I028250 28250695 28252364 1.13 [{'connected_gene': 'LOC105371712', 'score': 550.77}, {'connected_gene': 'GC17M028252', 'score': 550.77}, {'connected_gene': 'POLDIP2', 'score': 5.33}, {'connected_gene': 'TMEM97', 'score': 4.67}, {'connected_gene': 'PIRC93', 'score': 0.28}]
chr17 GH17I028402 28402423 28402592 0.56 [{'connected_gene': 'GC17P028402', 'score': 550.77}, {'connected_gene': 'GC17M029117', 'score': 550.77}, {'connected_gene': 'TMEM97', 'score': 4.53}, {'connected_gene': 'SLC46A1', 'score': 0.77}, {'connected_gene': 'ENSG00000265254', 'score': 0.77}, {'connected_gene': 'SARM1', 'score': 0.28}]