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
ENST00000515499 [[180649498, 180649781], [180657743, 180657839], [180659658, 180659889], [180660412, 180660435], [180660635, 180660763], [180661173, 180661326]] [[180657800, 180657839], [180659658, 180659889], [180660412, 180660435], [180660635, 180660763], [180661173, 180661326]]
ENST00000508930 [[180650289, 180651812], [180657743, 180657839], [180659658, 180659889], [180660412, 180660763], [180661173, 180662806]] None
ENST00000351937 [[180650289, 180651812], [180657743, 180657839], [180659658, 180659889], [180660412, 180660435], [180660635, 180660763], [180661173, 180661349], [180661931, 180661995], [180662353, 180662808]] [[180650999, 180651812], [180657743, 180657839], [180659658, 180659889], [180660412, 180660435], [180660635, 180660763], [180661173, 180661349], [180661931, 180661995], [180662353, 180662379]]
ENST00000315073 [[180650289, 180651812], [180657743, 180657839], [180659658, 180659889], [180660412, 180660435], [180660635, 180660763], [180661173, 180662809]] [[180650999, 180651812], [180657743, 180657839], [180659658, 180659889], [180660412, 180660435], [180660635, 180660763], [180661173, 180661775]]
ENST00000503114 [[180651057, 180651812], [180657743, 180657839], [180659658, 180659889], [180660635, 180660763], [180661173, 180661349], [180661931, 180661995], [180662353, 180662807]] [[180651057, 180651812], [180657743, 180657839], [180659658, 180659889], [180660635, 180660641]]
ENST00000515223 [[180651165, 180651812], [180657743, 180662803]] None
ENST00000515834 [[180651690, 180657839], [180659658, 180660524]] None
ENST00000514219 [[180660408, 180660435], [180660635, 180660763], [180661173, 180661349], [180661995, 180662079], [180662353, 180662397]] [[180660408, 180660435], [180660635, 180660763], [180661173, 180661349], [180661995, 180662013]]
ENST00000510072 [[180660705, 180660763], [180661124, 180661818]] None
NR_045218 [[180650262, 180651812], [180657743, 180657839], [180659658, 180659889], [180660635, 180660763], [180661173, 180661349], [180661931, 180661995], [180662353, 180662808]] None
NM_201627 [[180650262, 180651812], [180657743, 180657839], [180659658, 180659889], [180660412, 180660435], [180660635, 180660763], [180661173, 180661349], [180661931, 180661995], [180662353, 180662808]] [[180650999, 180651812], [180657743, 180657839], [180659658, 180659889], [180660412, 180660435], [180660635, 180660763], [180661173, 180661349], [180661931, 180661995], [180662353, 180662379]]
NM_033549 [[180650262, 180651812], [180657743, 180657839], [180659658, 180659889], [180660412, 180660435], [180660635, 180660763], [180661173, 180662808]] [[180650999, 180651812], [180657743, 180657839], [180659658, 180659889], [180660412, 180660435], [180660635, 180660763], [180661173, 180661775]]
Promoter
Chrom Start End Description
chr5 180650260 180650269 CAGE_peak_6_at_TRIM41_5end
chr5 180650271 180650319 CAGE_peak_1_at_TRIM41_5end
chr5 180650695 180650727 CAGE_peak_2_at_TRIM41_5end
chr5 180650729 180650755 CAGE_peak_3_at_TRIM41_5end
chr5 180650953 180651007 CAGE_peak_4_at_TRIM41_5end
chr5 180651564 180651580 CAGE_peak_13_at_TRIM41_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I181187 181187000 181193459 2.15 [{'connected_gene': 'LOC105377769', 'score': 550.77}, {'connected_gene': 'TRT-TGT6-1', 'score': 550.77}, {'connected_gene': 'PIR54518', 'score': 550.77}, {'connected_gene': 'TRV-AAC2-1', 'score': 550.77}, {'connected_gene': 'TRP-TGG3-1', 'score': 550.77}, {'connected_gene': 'LINC01962', 'score': 550.77}, {'connected_gene': 'GC05M181234', 'score': 550.77}, {'connected_gene': 'GC05M181233', 'score': 550.77}, {'connected_gene': 'TRIM52', 'score': 41.74}, {'connected_gene': 'ENSG00000233937', 'score': 32.7}, {'connected_gene': 'ZFP62', 'score': 25.92}, {'connected_gene': 'ENSG00000248514', 'score': 23.75}, {'connected_gene': 'CNOT6', 'score': 22.08}, {'connected_gene': 'TRIM7', 'score': 20.26}, {'connected_gene': 'GFPT2', 'score': 11.38}, {'connected_gene': 'RASGEF1C', 'score': 11.26}, {'connected_gene': 'ENSG00000248367', 'score': 10.59}, {'connected_gene': 'SNORD96A', 'score': 10.3}, {'connected_gene': 'TRIM52-AS1', 'score': 4.21}, {'connected_gene': 'TRIM41', 'score': 2.21}, {'connected_gene': 'TRL-AAG2-1', 'score': 0.77}, {'connected_gene': 'PIR48234', 'score': 0.77}]
chr5 GH05I181230 181230529 181231327 0.38 [{'connected_gene': 'ENSG00000247049', 'score': 550.77}, {'connected_gene': 'TRIM41', 'score': 0.44}, {'connected_gene': 'GC05M181242', 'score': 0.39}]
chr5 GH05I181179 181179223 181180434 0.52 [{'connected_gene': 'GC05P181179', 'score': 550.77}, {'connected_gene': 'TRIM7', 'score': 17.13}, {'connected_gene': 'TRIM41', 'score': 11.87}, {'connected_gene': 'ENSG00000247049', 'score': 11.84}, {'connected_gene': 'ENSG00000248514', 'score': 11.77}, {'connected_gene': 'RACK1', 'score': 11.63}, {'connected_gene': 'ENSG00000233937', 'score': 11.63}, {'connected_gene': 'MGAT1', 'score': 10.03}, {'connected_gene': 'ENSG00000248103', 'score': 5.91}, {'connected_gene': 'TRL-AAG2-1', 'score': 0.44}]
chr5 GH05I181184 181182021 181182250 0.84 [{'connected_gene': 'ENSG00000248514', 'score': 17.92}, {'connected_gene': 'TRIM7', 'score': 12.1}, {'connected_gene': 'TRIM41', 'score': 11.87}, {'connected_gene': 'ENSG00000247049', 'score': 11.86}, {'connected_gene': 'GC05P181179', 'score': 0.77}, {'connected_gene': 'TRL-AAG2-1', 'score': 0.44}]
chr5 GH05I181182 181182461 181182731 0.46 [{'connected_gene': 'ENSG00000248514', 'score': 21.37}, {'connected_gene': 'TRIM7', 'score': 12.1}, {'connected_gene': 'TRIM41', 'score': 11.89}, {'connected_gene': 'ENSG00000247049', 'score': 11.86}, {'connected_gene': 'GC05P181179', 'score': 0.77}, {'connected_gene': 'TRL-AAG2-1', 'score': 0.44}]
chr5 GH05I181221 181221077 181225426 2.36 [{'connected_gene': 'PIR33457', 'score': 550.77}, {'connected_gene': 'MIR4638', 'score': 550.77}, {'connected_gene': 'TRK-CTT2-3', 'score': 550.77}, {'connected_gene': 'PIR62653', 'score': 550.77}, {'connected_gene': 'TRV-CAC1-5', 'score': 550.77}, {'connected_gene': 'TRIM41', 'score': 550.77}, {'connected_gene': 'ENSG00000233937', 'score': 74.78}, {'connected_gene': 'RACK1', 'score': 46.34}, {'connected_gene': 'TRIM52', 'score': 41.75}, {'connected_gene': 'TRIM52-AS1', 'score': 36.83}, {'connected_gene': 'CNOT6', 'score': 22.09}, {'connected_gene': 'ENSG00000248367', 'score': 20.99}, {'connected_gene': 'GFPT2', 'score': 20.88}, {'connected_gene': 'MGAT1', 'score': 18.24}, {'connected_gene': 'ZFP62', 'score': 15.18}, {'connected_gene': 'MAPK9', 'score': 11.61}, {'connected_gene': 'SNORD96A', 'score': 10.43}, {'connected_gene': 'ENSG00000248103', 'score': 10.31}, {'connected_gene': 'TRIM7', 'score': 7.39}, {'connected_gene': 'ENSG00000247049', 'score': 0.44}]
chr5 GH05I181229 181229596 181230411 0.31 [{'connected_gene': 'ENSG00000247049', 'score': 550.77}, {'connected_gene': 'TRIM52-AS1', 'score': 37.37}, {'connected_gene': 'RACK1', 'score': 9.23}, {'connected_gene': 'PIR33457', 'score': 0.44}, {'connected_gene': 'TRIM41', 'score': 0.44}]
chr5 GH05I181280 181280320 181282476 1.13 [{'connected_gene': 'ENSG00000248103', 'score': 550.77}, {'connected_gene': 'TRIM52-AS1', 'score': 91.21}, {'connected_gene': 'RACK1', 'score': 23.54}, {'connected_gene': 'TRIM52', 'score': 12.55}, {'connected_gene': 'ENSG00000233937', 'score': 11.29}, {'connected_gene': 'ENSG00000247049', 'score': 10.95}, {'connected_gene': 'TRIM41', 'score': 10.94}, {'connected_gene': 'TRIM7', 'score': 10.7}, {'connected_gene': 'ENSG00000250900', 'score': 10.62}, {'connected_gene': 'ENSG00000274525', 'score': 0.39}]