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
ENST00000515255 [[106629940, 106630173], [106647735, 106647987], [106650562, 106650656], [106744110, 106744226], [106744387, 106744432], [106746828, 106746957], [106755617, 106755751], [106759015, 106759046], [106763221, 106763291], [106766597, 106766866]] None
ENST00000394730 [[106629940, 106630173], [106638749, 106638935], [106640216, 106640684], [106647735, 106647987], [106650562, 106650656], [106744110, 106744226], [106744387, 106744432], [106746828, 106746957], [106755617, 106755751], [106759015, 106759046], [106763221, 106763291], [106766597, 106768882]] [[106638770, 106638935], [106640216, 106640684], [106647735, 106647987], [106650562, 106650656], [106744110, 106744226], [106744387, 106744432], [106746828, 106746957], [106755617, 106755751], [106759015, 106759046], [106763221, 106763291], [106766597, 106766734]]
ENST00000484843 [[106629943, 106630173], [106638749, 106639196], [106640216, 106640684], [106647735, 106647987], [106650562, 106650656], [106744110, 106744847]] None
ENST00000515279 [[106629974, 106630173], [106638749, 106639196], [106640216, 106640684], [106647735, 106647987], [106650562, 106650656], [106744110, 106744226], [106744387, 106744432], [106746828, 106746957], [106755617, 106755751], [106759015, 106759046], [106763221, 106763291], [106766597, 106768885]] [[106638770, 106639196], [106640216, 106640684], [106647735, 106647987], [106650562, 106650656], [106744110, 106744226], [106744387, 106744432], [106746828, 106746957], [106755617, 106755751], [106759015, 106759046], [106763221, 106763291], [106766597, 106766734]]
ENST00000360505 [[106631966, 106632020], [106638749, 106639196], [106640216, 106640684], [106647735, 106647987], [106650562, 106650656], [106744110, 106744226], [106744387, 106744432], [106746828, 106746957], [106755617, 106755751], [106759015, 106759046], [106763221, 106763291], [106766597, 106766911]] [[106638770, 106639196], [106640216, 106640684], [106647735, 106647987], [106650562, 106650656], [106744110, 106744226], [106744387, 106744432], [106746828, 106746957], [106755617, 106755751], [106759015, 106759046], [106763221, 106763291], [106766597, 106766734]]
ENST00000394728 [[106638770, 106639196], [106640216, 106640684], [106647735, 106647987], [106650562, 106650656], [106744110, 106744226], [106744387, 106744432], [106746828, 106746957], [106755617, 106755751], [106759015, 106759046], [106763221, 106763291], [106766597, 106768881]] [[106638770, 106639196], [106640216, 106640684], [106647735, 106647987], [106650562, 106650656], [106744110, 106744226], [106744387, 106744432], [106746828, 106746957], [106755617, 106755751], [106759015, 106759046], [106763221, 106763291], [106766597, 106766734]]
ENST00000512828 [[106629934, 106630363], [106638749, 106638892]] [[106638770, 106638892]]
ENST00000507281 [[106629943, 106630173], [106638749, 106638935], [106640216, 106640684], [106647735, 106647987], [106650562, 106650656], [106682181, 106683042]] [[106638770, 106638935], [106640216, 106640684], [106647735, 106647987], [106650562, 106650656], [106682181, 106682225]]
ENST00000510865 [[106631969, 106632026], [106638749, 106639196], [106640216, 106640290]] [[106638770, 106639196], [106640216, 106640290]]
ENST00000509336 [[106632002, 106632197], [106638749, 106639196], [106640216, 106640292]] [[106638770, 106639196], [106640216, 106640292]]
ENST00000503409 [[106638782, 106638935], [106640216, 106640716]] None
NM_024751 [[106629940, 106630173], [106638749, 106638935], [106640216, 106640684], [106647735, 106647987], [106650562, 106650656], [106744110, 106744226], [106744387, 106744432], [106746828, 106746957], [106755617, 106755751], [106759015, 106759046], [106763221, 106763291], [106766597, 106768882]] [[106638770, 106638935], [106640216, 106640684], [106647735, 106647987], [106650562, 106650656], [106744110, 106744226], [106744387, 106744432], [106746828, 106746957], [106755617, 106755751], [106759015, 106759046], [106763221, 106763291], [106766597, 106766734]]
NM_001031720 [[106631969, 106632020], [106638749, 106639196], [106640216, 106640684], [106647735, 106647987], [106650562, 106650656], [106744110, 106744226], [106744387, 106744432], [106746828, 106746957], [106755617, 106755751], [106759015, 106759046], [106763221, 106763291], [106766597, 106768882]] [[106638770, 106639196], [106640216, 106640684], [106647735, 106647987], [106650562, 106650656], [106744110, 106744226], [106744387, 106744432], [106746828, 106746957], [106755617, 106755751], [106759015, 106759046], [106763221, 106763291], [106766597, 106766734]]
Promoter
Chrom Start End Description
chr4 106629929 106629982 CAGE_peak_1_at_GSTCD_5end
chr4 106629993 106630007 CAGE_peak_2_at_GSTCD_5end
chr4 106630025 106630034 CAGE_peak_3_at_GSTCD_5end
chr4 106631966 106631974 CAGE_peak_4_at_GSTCD_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I105540 105540571 105542273 0.31 [{'connected_gene': 'GSTCD', 'score': 9.73}, {'connected_gene': 'INTS12', 'score': 9.68}, {'connected_gene': 'ENSG00000248778', 'score': 7.97}, {'connected_gene': 'PPA2', 'score': 5.15}, {'connected_gene': 'ATP5F1EP1', 'score': 0.44}, {'connected_gene': 'LOC105377352', 'score': 0.39}]
chr4 GH04I105707 105707230 105711253 2.15 [{'connected_gene': 'GSTCD', 'score': 604.06}, {'connected_gene': 'INTS12', 'score': 568.23}, {'connected_gene': 'LOC101929577', 'score': 54.73}, {'connected_gene': 'TBCK', 'score': 44.36}, {'connected_gene': 'EEF1A1P9', 'score': 21.37}, {'connected_gene': 'AIMP1', 'score': 18.47}, {'connected_gene': 'LOC101929529', 'score': 11.76}, {'connected_gene': 'TET2', 'score': 9.93}, {'connected_gene': 'ARHGEF38', 'score': 0.1}]
chr4 GH04I105859 105859324 105859473 0.6 [{'connected_gene': 'GSTCD', 'score': 6.74}, {'connected_gene': 'LOC101929529', 'score': 0.29}, {'connected_gene': 'INTS12', 'score': 0.28}, {'connected_gene': 'NPNT', 'score': 0.28}]
chr4 GH04I105765 105765644 105766566 0.89 [{'connected_gene': 'GSTCD', 'score': 0.22}, {'connected_gene': 'LOC101929529', 'score': 0.21}, {'connected_gene': 'INTS12', 'score': 0.13}]
chr4 GH04I105683 105683124 105683313 0.57 [{'connected_gene': 'INTS12', 'score': 29.11}, {'connected_gene': 'GSTCD', 'score': 11.2}, {'connected_gene': 'ENSG00000248778', 'score': 0.77}, {'connected_gene': 'ARHGEF38', 'score': 0.12}]
chr4 GH04I105713 105713946 105715200 0.77 [{'connected_gene': 'INTS12', 'score': 18.23}, {'connected_gene': 'GSTCD', 'score': 0.44}, {'connected_gene': 'LOC101929529', 'score': 0.14}]
chr4 GH04I105612 105612919 105614499 0.52 [{'connected_gene': 'INTS12', 'score': 18.37}, {'connected_gene': 'ARHGEF38', 'score': 10.54}, {'connected_gene': 'LOC105377352', 'score': 10.54}, {'connected_gene': 'GSTCD', 'score': 10.05}, {'connected_gene': 'ARHGEF38-IT1', 'score': 0.23}, {'connected_gene': 'ENSG00000248778', 'score': 0.2}]
chr4 GH04I105808 105808153 105809465 0.77 [{'connected_gene': 'INTS12', 'score': 16.98}, {'connected_gene': 'LOC101929529', 'score': 0.37}, {'connected_gene': 'GSTCD', 'score': 0.15}]
chr4 GH04I105841 105841179 105843220 0.2 [{'connected_gene': 'INTS12', 'score': 16.75}, {'connected_gene': 'LOC101929529', 'score': 0.37}, {'connected_gene': 'NPNT', 'score': 0.23}, {'connected_gene': 'GSTCD', 'score': 0.12}]
chr4 GH04I105718 105718743 105719848 0.31 [{'connected_gene': 'PPA2', 'score': 4.95}, {'connected_gene': 'GSTCD', 'score': 0.39}, {'connected_gene': 'LOC101929529', 'score': 0.14}, {'connected_gene': 'INTS12', 'score': 0.1}]
chr4 GH04I105637 105637601 105637800 0.84 [{'connected_gene': 'LOC101929577', 'score': 43.36}, {'connected_gene': 'GSTCD', 'score': 42.29}, {'connected_gene': 'TBCK', 'score': 26.89}, {'connected_gene': 'LOC105377352', 'score': 10.81}, {'connected_gene': 'ARHGEF38', 'score': 10.81}, {'connected_gene': 'AIMP1', 'score': 9.88}, {'connected_gene': 'ENSG00000248778', 'score': 0.26}, {'connected_gene': 'ARHGEF38-IT1', 'score': 0.18}]
chr4 GH04I104905 104905502 104907564 0.54 [{'connected_gene': 'ENSG00000248373', 'score': 550.77}, {'connected_gene': 'GSTCD', 'score': 4.57}, {'connected_gene': 'GC04P104900', 'score': 0.44}, {'connected_gene': 'ENSG00000248242', 'score': 0.21}]
chr4 GH04I105969 105969816 105971495 0.2 [{'connected_gene': 'ENSG00000250740', 'score': 10.92}, {'connected_gene': 'INTS12', 'score': 10.16}, {'connected_gene': 'NPNT', 'score': 10.15}, {'connected_gene': 'GSTCD', 'score': 4.41}, {'connected_gene': 'LOC101929577', 'score': 0.23}]
chr4 GH04I104965 104965751 104968245 0.97 [{'connected_gene': 'ENSG00000248242', 'score': 550.77}, {'connected_gene': 'TET2', 'score': 11.05}, {'connected_gene': 'GSTCD', 'score': 5.0}, {'connected_gene': 'RNU6-351P', 'score': 0.44}, {'connected_gene': 'ENSG00000248373', 'score': 0.22}]