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
ENST00000287020 [[97154561, 97157752], [97172514, 97173020]] [[97156790, 97157752], [97172514, 97172920]]
NM_001001557 [[97154560, 97157752], [97172514, 97173020]] [[97156790, 97157752], [97172514, 97172920]]
Promoter
Chrom Start End Description
chr8 97173020 97173041 CAGE_peak_1_at_GDF6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I096231 96231713 96231862 0.63 [{'connected_gene': 'PTDSS1', 'score': 11.71}, {'connected_gene': 'MTERF3', 'score': 11.71}, {'connected_gene': 'GDF6', 'score': 10.67}, {'connected_gene': 'UQCRB', 'score': 0.77}, {'connected_gene': 'LOC101927039', 'score': 0.77}, {'connected_gene': 'GC08P096183', 'score': 0.25}]
chr8 GH08I096227 96227253 96227402 0.65 [{'connected_gene': 'MTERF3', 'score': 20.91}, {'connected_gene': 'PTDSS1', 'score': 11.69}, {'connected_gene': 'GDF6', 'score': 10.68}, {'connected_gene': 'UQCRB', 'score': 0.44}, {'connected_gene': 'LOC101927039', 'score': 0.44}, {'connected_gene': 'GC08P096183', 'score': 0.26}]
chr8 GH08I096103 96103296 96105553 0.8 [{'connected_gene': 'MTERF3', 'score': 11.64}, {'connected_gene': 'GDF6', 'score': 11.45}, {'connected_gene': 'C8orf37', 'score': 11.31}, {'connected_gene': 'TUBBP7', 'score': 0.34}, {'connected_gene': 'GAPDHP30', 'score': 0.29}]
chr8 GH08I096096 96096303 96097529 0.43 [{'connected_gene': 'GDF6', 'score': 11.01}, {'connected_gene': 'GAPDHP30', 'score': 0.31}, {'connected_gene': 'TUBBP7', 'score': 0.29}]
chr8 GH08I095807 95807503 95809316 0.66 [{'connected_gene': 'GDF6', 'score': 9.9}, {'connected_gene': 'GC08M095906', 'score': 0.15}, {'connected_gene': 'GC08P095632', 'score': 0.1}, {'connected_gene': 'C8orf37-AS1', 'score': 0.03}]
chr8 GH08I095804 95804629 95806406 0.76 [{'connected_gene': 'GDF6', 'score': 9.9}, {'connected_gene': 'GC08M095906', 'score': 0.15}, {'connected_gene': 'GC08P095632', 'score': 0.1}, {'connected_gene': 'C8orf37-AS1', 'score': 0.03}]
chr8 GH08I095799 95799523 95803973 1.27 [{'connected_gene': 'GDF6', 'score': 4.25}, {'connected_gene': 'GC08M095906', 'score': 0.14}, {'connected_gene': 'GC08P095632', 'score': 0.09}, {'connected_gene': 'C8orf37-AS1', 'score': 0.03}]
chr8 GH08I096098 96098709 96100934 0.38 [{'connected_gene': 'GDF6', 'score': 11.01}, {'connected_gene': 'TUBBP7', 'score': 0.31}, {'connected_gene': 'GAPDHP30', 'score': 0.29}]
chr8 GH08I096132 96132748 96133600 0.88 [{'connected_gene': 'GDF6', 'score': 17.05}, {'connected_gene': 'TUBBP7', 'score': 0.44}, {'connected_gene': 'ENSG00000270131', 'score': 0.44}]
chr8 GH08I096160 96160453 96162342 1.94 [{'connected_gene': 'GDF6', 'score': 582.1}, {'connected_gene': 'GC08P096183', 'score': 0.34}]
chr8 GH08I096172 96172470 96174067 0.38 [{'connected_gene': 'GDF6', 'score': 18.51}, {'connected_gene': 'GC08P096183', 'score': 0.39}]
chr8 GH08I096171 96171973 96172102 0.46 [{'connected_gene': 'GDF6', 'score': 0.39}, {'connected_gene': 'GC08P096183', 'score': 0.39}]
chr8 GH08I096164 96164433 96164582 0.65 [{'connected_gene': 'GDF6', 'score': 21.05}, {'connected_gene': 'GC08P096183', 'score': 0.37}]
chr8 GH08I096158 96158866 96159225 0.4 [{'connected_gene': 'GDF6', 'score': 554.62}, {'connected_gene': 'ENSG00000270131', 'score': 0.37}]
chr8 GH08I096161 96160013 96160302 0.52 [{'connected_gene': 'GDF6', 'score': 571.3}, {'connected_gene': 'ENSG00000270131', 'score': 0.37}]
chr8 GH08I096154 96154531 96154562 0.31 [{'connected_gene': 'GDF6', 'score': 0.44}, {'connected_gene': 'ENSG00000270131', 'score': 0.39}]
chr8 GH08I096165 96165534 96165838 0.22 [{'connected_gene': 'GDF6', 'score': 13.45}, {'connected_gene': 'GC08P096183', 'score': 0.37}]
chr8 GH08I096163 96163993 96164142 0.49 [{'connected_gene': 'GDF6', 'score': 0.77}, {'connected_gene': 'GC08P096183', 'score': 0.37}]
chr8 GH08I096144 96144403 96146136 0.86 [{'connected_gene': 'ENSG00000270131', 'score': 0.77}, {'connected_gene': 'GDF6', 'score': 0.37}]
chr8 GH08I096180 96180213 96180362 0.6 [{'connected_gene': 'GC08P096183', 'score': 0.77}, {'connected_gene': 'GDF6', 'score': 0.37}]
chr8 GH08I096147 96147133 96147282 0.49 [{'connected_gene': 'ENSG00000270131', 'score': 0.44}, {'connected_gene': 'GDF6', 'score': 0.39}]