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
ENST00000227507 [[69455854, 69456279], [69457798, 69458014], [69458599, 69458759], [69462761, 69462910], [69465885, 69469242]] [[69456081, 69456279], [69457798, 69458014], [69458599, 69458759], [69462761, 69462910], [69465885, 69466050]]
ENST00000539241 [[69455932, 69456279], [69457798, 69458014], [69458599, 69458956]] None
ENST00000536559 [[69455973, 69456279], [69462761, 69463008]] [[69456081, 69456279], [69462761, 69462767]]
ENST00000535993 [[69455998, 69456279], [69457798, 69458085]] None
ENST00000545484 [[69458479, 69458759], [69462761, 69462911]] None
ENST00000542367 [[69462724, 69462910], [69465885, 69466175]] None
NM_053056 [[69455872, 69456279], [69457798, 69458014], [69458599, 69458759], [69462761, 69462910], [69465885, 69469242]] [[69456081, 69456279], [69457798, 69458014], [69458599, 69458759], [69462761, 69462910], [69465885, 69466050]]
Promoter
Chrom Start End Description
chr11 69455707 69455723 CAGE_peak_11_at_CCND1_5end
chr11 69455914 69455932 CAGE_peak_1_at_CCND1_5end
chr11 69458592 69458678 CAGE_peak_4_at_CCND1_5end
chr11 69462821 69462870 CAGE_peak_6_at_CCND1_5end
chr11 69466187 69466212 CAGE_peak_9_at_CCND1_5end
chr11 69466948 69466985 CAGE_peak_10_at_CCND1_5end
chr11 69467214 69467238 CAGE_peak_5_at_CCND1_5end
chr11 69467344 69467411 CAGE_peak_2_at_CCND1_5end
chr11 69467416 69467438 CAGE_peak_7_at_CCND1_5end
chr11 69467457 69467532 CAGE_peak_3_at_CCND1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I069635 69635738 69649193 2.5 [{'connected_gene': 'CCND1', 'score': 553.61}, {'connected_gene': 'ORAOV1', 'score': 18.79}, {'connected_gene': 'ANO1', 'score': 9.97}]
chr11 GH11I069651 69651876 69652574 0.38 [{'connected_gene': 'CCND1', 'score': 0.39}, {'connected_gene': 'ORAOV1', 'score': 0.34}]
chr11 GH11I069653 69653393 69653750 0.31 [{'connected_gene': 'CCND1', 'score': 0.39}, {'connected_gene': 'ORAOV1', 'score': 0.34}]
chr11 GH11I069258 69258010 69259083 0.87 [{'connected_gene': 'CCND1', 'score': 5.58}, {'connected_gene': 'GC11M069240', 'score': 0.39}, {'connected_gene': 'LOC105369368', 'score': 0.34}]
chr11 GH11I069667 69667191 69668767 0.89 [{'connected_gene': 'CCND1', 'score': 11.25}, {'connected_gene': 'MRGPRF-AS1', 'score': 9.47}, {'connected_gene': 'MRGPRF', 'score': 9.47}, {'connected_gene': 'ORAOV1', 'score': 6.04}, {'connected_gene': 'GC11M069658', 'score': 0.12}]
chr11 GH11I069636 69635273 69635422 0.31 [{'connected_gene': 'CCND1', 'score': 0.44}, {'connected_gene': 'GC11P069613', 'score': 0.34}]
chr11 GH11I069634 69634508 69635040 0.59 [{'connected_gene': 'CCND1', 'score': 0.44}, {'connected_gene': 'GC11P069613', 'score': 0.34}]
chr11 GH11I069654 69653996 69656516 1.16 [{'connected_gene': 'IGHMBP2', 'score': 12.44}, {'connected_gene': 'CCND1', 'score': 0.39}, {'connected_gene': 'ORAOV1', 'score': 0.34}]
chr11 GH11I069673 69673160 69676289 2.06 [{'connected_gene': 'ORAOV1', 'score': 565.65}, {'connected_gene': 'CCND1', 'score': 0.29}, {'connected_gene': 'GC11M069658', 'score': 0.13}]
chr11 GH11I069669 69669698 69670632 0.86 [{'connected_gene': 'ORAOV1', 'score': 0.44}, {'connected_gene': 'CCND1', 'score': 0.31}, {'connected_gene': 'GC11M069658', 'score': 0.12}]
chr11 GH11I069649 69649609 69651329 0.66 [{'connected_gene': 'ORAOV1', 'score': 11.94}, {'connected_gene': 'CCND1', 'score': 0.44}]
chr11 GH11I069657 69657335 69659455 1.1 [{'connected_gene': 'MRGPRF', 'score': 9.46}, {'connected_gene': 'MRGPRF-AS1', 'score': 9.46}, {'connected_gene': 'ANO1-AS1', 'score': 9.08}, {'connected_gene': 'ORAOV1', 'score': 5.98}, {'connected_gene': 'CCND1', 'score': 0.37}, {'connected_gene': 'GC11M069658', 'score': 0.11}]
chr11 GH11I069615 69615406 69616037 0.75 [{'connected_gene': 'GC11P069613', 'score': 0.77}, {'connected_gene': 'CCND1', 'score': 0.31}]
chr11 GH11I069270 69270967 69272191 0.66 [{'connected_gene': 'GC11M069240', 'score': 550.77}, {'connected_gene': 'MYEOV', 'score': 12.45}, {'connected_gene': 'PPFIA1', 'score': 9.97}, {'connected_gene': 'MRGPRF-AS1', 'score': 5.06}, {'connected_gene': 'CCND1', 'score': 4.75}]
chr11 GH11I069442 69442149 69445729 1.76 [{'connected_gene': 'ENSG00000255606', 'score': 550.77}, {'connected_gene': 'ENSG00000246889', 'score': 14.28}, {'connected_gene': 'ORAOV1', 'score': 13.59}, {'connected_gene': 'PPFIA1', 'score': 10.02}, {'connected_gene': 'CCND1', 'score': 2.82}, {'connected_gene': 'LOC102724265', 'score': 0.37}]
chr11 GH11I069368 69368189 69368402 0.61 [{'connected_gene': 'GC11P069370', 'score': 550.77}, {'connected_gene': 'ORAOV1', 'score': 11.4}, {'connected_gene': 'MYEOV', 'score': 7.86}, {'connected_gene': 'CCND1', 'score': 3.6}, {'connected_gene': 'IFITM9P', 'score': 0.21}, {'connected_gene': 'LOC105369370', 'score': 0.2}]