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
ENST00000515408 [[112312398, 112312683], [112321531, 112321683], [112327817, 112327945], [112328368, 112328467], [112336780, 112336933], [112337053, 112337166], [112337263, 112337371], [112339638, 112339774], [112346452, 112346504], [112349017, 112355820]] [[112312630, 112312683], [112321531, 112321683], [112327817, 112327945], [112328368, 112328467], [112336780, 112336933], [112337053, 112337166], [112337263, 112337371], [112339638, 112339774], [112346452, 112346504], [112349017, 112349181]]
ENST00000513585 [[112312406, 112312683], [112328368, 112328467], [112336780, 112336933], [112337053, 112337166], [112337263, 112337371], [112339638, 112339774], [112343634, 112343739], [112346452, 112346504], [112349017, 112349546]] [[112312406, 112312683], [112328368, 112328467], [112336780, 112336933], [112337053, 112337166], [112337263, 112337371], [112339638, 112339774], [112343634, 112343739], [112346452, 112346504], [112349017, 112349181]]
ENST00000389063 [[112312432, 112312683], [112321531, 112321683], [112327817, 112327945], [112328368, 112328467], [112336780, 112336933], [112337053, 112337166], [112337263, 112337371], [112339638, 112339774], [112343634, 112343739], [112346452, 112346504], [112349017, 112356667]] [[112312630, 112312683], [112321531, 112321683], [112327817, 112327945], [112328368, 112328467], [112336780, 112336933], [112337053, 112337166], [112337263, 112337371], [112339638, 112339774], [112343634, 112343739], [112346452, 112346504], [112349017, 112349181]]
ENST00000543319 [[112312478, 112312683], [112328368, 112328467], [112336780, 112336933], [112337053, 112337166], [112337263, 112337371], [112339638, 112339774], [112343634, 112343739], [112346452, 112346504], [112349017, 112349546]] [[112337101, 112337166], [112337263, 112337371], [112339638, 112339774], [112343634, 112343739], [112346452, 112346504], [112349017, 112349181]]
ENST00000512751 [[112312638, 112312683], [112328368, 112328467], [112336780, 112336933], [112337053, 112337166], [112337263, 112337371], [112343634, 112343686]] [[112328447, 112328467], [112336780, 112336933], [112337053, 112337105]]
ENST00000502635 [[112321528, 112321683], [112327817, 112327945], [112328368, 112328467], [112336780, 112336912]] None
ENST00000510046 [[112312490, 112312683], [112321531, 112321707]] None
ENST00000504961 [[112312509, 112312683], [112319670, 112320348]] None
ENST00000508359 [[112336822, 112336933], [112337053, 112337166], [112337263, 112337371], [112339638, 112339774], [112343634, 112344004]] None
NR_038352 [[112312406, 112312683], [112328368, 112328467], [112336780, 112336933], [112337053, 112337166], [112337263, 112337371], [112339638, 112339774], [112343634, 112343739], [112346452, 112346504], [112349017, 112357892]] None
NM_001242377 [[112312406, 112312683], [112321531, 112321683], [112327817, 112327945], [112328368, 112328467], [112336780, 112336933], [112337053, 112337166], [112337263, 112337371], [112339638, 112339774], [112346452, 112346504], [112349017, 112357892]] [[112312630, 112312683], [112321531, 112321683], [112327817, 112327945], [112328368, 112328467], [112336780, 112336933], [112337053, 112337166], [112337263, 112337371], [112339638, 112339774], [112346452, 112346504], [112349017, 112349181]]
NM_152624 [[112312406, 112312683], [112321531, 112321683], [112327817, 112327945], [112328368, 112328467], [112336780, 112336933], [112337053, 112337166], [112337263, 112337371], [112339638, 112339774], [112343634, 112343739], [112346452, 112346504], [112349017, 112357892]] [[112312630, 112312683], [112321531, 112321683], [112327817, 112327945], [112328368, 112328467], [112336780, 112336933], [112337053, 112337166], [112337263, 112337371], [112339638, 112339774], [112343634, 112343739], [112346452, 112346504], [112349017, 112349181]]
Promoter
Chrom Start End Description
chr5 112312401 112312414 CAGE_peak_3_at_DCP2_5end
chr5 112312416 112312440 CAGE_peak_2_at_DCP2_5end
chr5 112312454 112312535 CAGE_peak_1_at_DCP2_5end
chr5 112312572 112312583 CAGE_peak_4_at_DCP2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I113033 113033503 113035566 0.69 [{'connected_gene': 'YTHDC2', 'score': 10.0}, {'connected_gene': 'MCC', 'score': 6.32}, {'connected_gene': 'DCP2', 'score': 5.17}, {'connected_gene': 'REEP5', 'score': 4.84}, {'connected_gene': 'GC05P113027', 'score': 0.44}, {'connected_gene': 'GC05M113056', 'score': 0.29}]
chr5 GH05I113275 113275789 113275991 0.4 [{'connected_gene': 'YTHDC2', 'score': 4.93}, {'connected_gene': 'DCP2', 'score': 4.64}, {'connected_gene': 'PIR40347', 'score': 0.31}, {'connected_gene': 'ENSG00000232633', 'score': 0.25}, {'connected_gene': 'MCC', 'score': 0.08}]
chr5 GH05I113046 113046924 113048600 1.44 [{'connected_gene': 'MCC', 'score': 14.65}, {'connected_gene': 'YTHDC2', 'score': 8.18}, {'connected_gene': 'DCP2', 'score': 3.06}, {'connected_gene': 'GC05P113027', 'score': 0.37}, {'connected_gene': 'GC05M113056', 'score': 0.37}]
chr5 GH05I113081 113081103 113082944 0.85 [{'connected_gene': 'MCC', 'score': 6.19}, {'connected_gene': 'DCP2', 'score': 4.39}, {'connected_gene': 'REEP5', 'score': 4.15}, {'connected_gene': 'PIR57646', 'score': 0.77}, {'connected_gene': 'GC05P113074', 'score': 0.44}]
chr5 GH05I113093 113093047 113094632 0.54 [{'connected_gene': 'MCC', 'score': 5.97}, {'connected_gene': 'DCP2', 'score': 4.89}, {'connected_gene': 'REEP5', 'score': 3.99}, {'connected_gene': 'PIR57646', 'score': 0.44}, {'connected_gene': 'PIR39781', 'score': 0.37}]
chr5 GH05I112966 112966645 112970490 1.19 [{'connected_gene': 'MCC', 'score': 17.41}, {'connected_gene': 'DCP2', 'score': 13.05}, {'connected_gene': 'GC05M112939', 'score': 0.44}, {'connected_gene': 'LOC105379126', 'score': 0.44}]
chr5 GH05I113094 113094653 113096103 0.52 [{'connected_gene': 'MCC', 'score': 5.88}, {'connected_gene': 'DCP2', 'score': 5.84}, {'connected_gene': 'ENSG00000272389', 'score': 4.66}, {'connected_gene': 'PIR57646', 'score': 0.39}, {'connected_gene': 'PIR39781', 'score': 0.37}]
chr5 GH05I113018 113018263 113024475 1.22 [{'connected_gene': 'MCC', 'score': 25.63}, {'connected_gene': 'DCP2', 'score': 24.98}, {'connected_gene': 'PIR41975', 'score': 0.77}, {'connected_gene': 'PIR31441', 'score': 0.44}]
chr5 GH05I113061 113061348 113065086 0.51 [{'connected_gene': 'DCP2', 'score': 7.82}, {'connected_gene': 'MCC', 'score': 7.02}, {'connected_gene': 'ENSG00000272389', 'score': 4.27}, {'connected_gene': 'REEP5', 'score': 4.01}, {'connected_gene': 'GC05M113056', 'score': 0.77}, {'connected_gene': 'GC05P113027', 'score': 0.28}]
chr5 GH05I113058 113058488 113060253 1.04 [{'connected_gene': 'DCP2', 'score': 13.92}, {'connected_gene': 'MCC', 'score': 9.3}, {'connected_gene': 'GC05M113056', 'score': 0.44}, {'connected_gene': 'GC05P113027', 'score': 0.29}]
chr5 GH05I113028 113028071 113032250 0.54 [{'connected_gene': 'DCP2', 'score': 18.89}, {'connected_gene': 'MCC', 'score': 18.61}, {'connected_gene': 'GC05P113027', 'score': 0.77}, {'connected_gene': 'GC05M113056', 'score': 0.28}]
chr5 GH05I113037 113037996 113040878 1.04 [{'connected_gene': 'DCP2', 'score': 20.32}, {'connected_gene': 'ENSG00000232633', 'score': 11.0}, {'connected_gene': 'MCC', 'score': 9.81}, {'connected_gene': 'GC05P113027', 'score': 0.39}, {'connected_gene': 'GC05M113056', 'score': 0.31}]
chr5 GH05I113036 113036336 113037143 0.38 [{'connected_gene': 'DCP2', 'score': 9.79}, {'connected_gene': 'MCC', 'score': 8.7}, {'connected_gene': 'GC05P113027', 'score': 0.44}, {'connected_gene': 'GC05M113056', 'score': 0.31}]
chr5 GH05I113050 113050376 113052524 1.05 [{'connected_gene': 'DCP2', 'score': 14.09}, {'connected_gene': 'MCC', 'score': 13.96}, {'connected_gene': 'GC05M113056', 'score': 0.37}, {'connected_gene': 'GC05P113027', 'score': 0.34}]
chr5 GH05I112973 112973244 112980608 2.12 [{'connected_gene': 'DCP2', 'score': 570.02}, {'connected_gene': 'LOC105379126', 'score': 550.77}, {'connected_gene': 'YTHDC2', 'score': 42.2}, {'connected_gene': 'MCC', 'score': 18.02}, {'connected_gene': 'PIR41975', 'score': 0.26}]
chr5 GH05I112996 112996124 112996313 0.69 [{'connected_gene': 'DCP2', 'score': 0.37}, {'connected_gene': 'PIR41975', 'score': 0.34}]
chr5 GH05I112160 112160204 112162957 1.61 [{'connected_gene': 'EPB41L4A-AS1', 'score': 555.52}, {'connected_gene': 'PIR48450', 'score': 550.77}, {'connected_gene': 'GC05M112153', 'score': 550.77}, {'connected_gene': 'GC05P112172', 'score': 550.77}, {'connected_gene': 'SNORA13', 'score': 550.77}, {'connected_gene': 'RPS3AP21', 'score': 24.66}, {'connected_gene': 'STARD4-AS1', 'score': 13.87}, {'connected_gene': 'DCP2', 'score': 10.55}, {'connected_gene': 'ENSG00000272389', 'score': 9.95}, {'connected_gene': 'EPB41L4A', 'score': 8.04}]
chr5 GH05I112683 112683787 112686425 0.95 [{'connected_gene': 'ZRSR2P1', 'score': 11.47}, {'connected_gene': 'REEP5', 'score': 9.89}, {'connected_gene': 'DCP2', 'score': 5.6}, {'connected_gene': 'LOC102467216', 'score': 0.77}, {'connected_gene': 'APC', 'score': 0.34}]
chr5 GH05I113024 113024751 113027163 0.43 [{'connected_gene': 'PIR31441', 'score': 550.77}, {'connected_gene': 'GC05P113027', 'score': 550.77}, {'connected_gene': 'DCP2', 'score': 25.95}, {'connected_gene': 'MCC', 'score': 22.75}, {'connected_gene': 'PIR41975', 'score': 0.44}]
chr5 GH05I112934 112934244 112934516 0.27 [{'connected_gene': 'GC05P112932', 'score': 550.77}, {'connected_gene': 'DCP2', 'score': 3.25}, {'connected_gene': 'LOC105379123', 'score': 0.39}, {'connected_gene': 'GC05M112939', 'score': 0.31}]