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
ENST00000294661 [[85715638, 85718385], [85724206, 85724405], [85724617, 85724744], [85725040, 85725355]] None
ENST00000471115 [[85717650, 85718385], [85724206, 85724405], [85725040, 85725325]] [[85718311, 85718385], [85724206, 85724405], [85725040, 85725316]]
ENST00000344356 [[85723125, 85723154], [85724206, 85724405], [85725040, 85725316]] [[85723125, 85723154], [85724206, 85724405], [85725040, 85725316]]
ENST00000493514 [[85723125, 85723154], [85724206, 85724405], [85724617, 85724744], [85725040, 85725316]] None
NR_024113 [[85715635, 85718385], [85724206, 85724405], [85724617, 85724744], [85725040, 85725355]] None
NM_198077 [[85715635, 85718385], [85724206, 85724405], [85725040, 85725355]] [[85718311, 85718385], [85724206, 85724405], [85725040, 85725316]]
Promoter
Chrom Start End Description
chr1 85725317 85725367 CAGE_peak_1_at_C1orf52_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I085273 85273609 85280478 2.65 [{'connected_gene': 'BCL10', 'score': 561.38}, {'connected_gene': 'LOC646626', 'score': 560.54}, {'connected_gene': 'C1orf52', 'score': 13.74}, {'connected_gene': 'DDAH1', 'score': 6.25}]
chr1 GH01I085229 85229878 85230027 0.87 [{'connected_gene': 'SYDE2', 'score': 11.9}, {'connected_gene': 'LOC105378821', 'score': 0.77}, {'connected_gene': 'C1orf52', 'score': 0.31}]
chr1 GH01I084478 84478658 84480957 2.06 [{'connected_gene': 'RPF1', 'score': 557.47}, {'connected_gene': 'ENSG00000271576', 'score': 24.23}, {'connected_gene': 'C1orf52', 'score': 13.4}, {'connected_gene': 'GNG5', 'score': 8.35}, {'connected_gene': 'CTBS', 'score': 6.56}, {'connected_gene': 'SPATA1', 'score': 0.31}]
chr1 GH01I085254 85254898 85254987 0.63 [{'connected_gene': 'LOC646626', 'score': 12.94}, {'connected_gene': 'BCL10', 'score': 12.94}, {'connected_gene': 'C1orf52', 'score': 0.77}, {'connected_gene': 'LOC105378821', 'score': 0.31}]
chr1 GH01I085243 85243377 85245754 1.01 [{'connected_gene': 'LOC646626', 'score': 7.17}, {'connected_gene': 'C1orf52', 'score': 0.37}, {'connected_gene': 'LOC105378821', 'score': 0.37}]
chr1 GH01I085240 85240400 85240800 0.83 [{'connected_gene': 'DNASE2B', 'score': 4.63}, {'connected_gene': 'C1orf52', 'score': 0.37}, {'connected_gene': 'LOC105378821', 'score': 0.37}]
chr1 GH01I085520 85520315 85527887 1.66 [{'connected_gene': 'ZNHIT6', 'score': 28.84}, {'connected_gene': 'CYR61', 'score': 13.18}, {'connected_gene': 'DDAH1', 'score': 12.12}, {'connected_gene': 'C1orf52', 'score': 10.87}, {'connected_gene': 'ENSG00000282057', 'score': 0.23}, {'connected_gene': 'ENSG00000273264', 'score': 0.22}]
chr1 GH01I086154 86154602 86157541 1.88 [{'connected_gene': 'COL24A1', 'score': 558.27}, {'connected_gene': 'ODF2L', 'score': 20.39}, {'connected_gene': 'ZNHIT6', 'score': 11.96}, {'connected_gene': 'BCL10', 'score': 11.78}, {'connected_gene': 'C1orf52', 'score': 10.83}, {'connected_gene': 'GC01M086135', 'score': 0.44}]
chr1 GH01I085296 85296749 85299840 1.43 [{'connected_gene': 'DDAH1', 'score': 20.88}, {'connected_gene': 'BCL10', 'score': 16.41}, {'connected_gene': 'C1orf52', 'score': 13.65}, {'connected_gene': 'LOC646626', 'score': 11.69}, {'connected_gene': 'CYR61', 'score': 10.54}, {'connected_gene': 'GC01P085392', 'score': 0.16}]
chr1 GH01I085575 85575118 85586483 2.55 [{'connected_gene': 'DDAH1', 'score': 550.77}, {'connected_gene': 'CYR61', 'score': 550.77}, {'connected_gene': 'ODF2L', 'score': 27.9}, {'connected_gene': 'ZNHIT6', 'score': 24.68}, {'connected_gene': 'C1orf52', 'score': 11.52}, {'connected_gene': 'BCL10', 'score': 9.8}, {'connected_gene': 'ENSG00000282057', 'score': 0.77}, {'connected_gene': 'ENSG00000272691', 'score': 0.77}, {'connected_gene': 'GC01P085583', 'score': 0.77}]
chr1 GH01I085337 85337787 85345678 1.32 [{'connected_gene': 'DDAH1', 'score': 27.81}, {'connected_gene': 'C1orf52', 'score': 13.55}, {'connected_gene': 'CYR61', 'score': 10.42}, {'connected_gene': 'BCL10', 'score': 5.13}, {'connected_gene': 'GC01P085392', 'score': 0.23}, {'connected_gene': 'LOC646626', 'score': 0.2}]
chr1 GH01I084853 84853149 84855832 1.54 [{'connected_gene': 'LPAR3', 'score': 11.15}, {'connected_gene': 'BCL10', 'score': 7.98}, {'connected_gene': 'GNG5', 'score': 6.56}, {'connected_gene': 'MCOLN2', 'score': 1.38}, {'connected_gene': 'C1orf52', 'score': 1.31}, {'connected_gene': 'LOC102724892', 'score': 0.22}]
chr1 GH01I084886 84886775 84889864 0.63 [{'connected_gene': 'LPAR3', 'score': 6.98}, {'connected_gene': 'BCL10', 'score': 3.36}, {'connected_gene': 'GNG5', 'score': 2.21}, {'connected_gene': 'C1orf52', 'score': 1.11}, {'connected_gene': 'LOC102724892', 'score': 0.16}]
chr1 GH01I084846 84846439 84848361 1.54 [{'connected_gene': 'LPAR3', 'score': 12.51}, {'connected_gene': 'MCOLN2', 'score': 1.93}, {'connected_gene': 'GNG5', 'score': 1.83}, {'connected_gene': 'BCL10', 'score': 1.76}, {'connected_gene': 'C1orf52', 'score': 1.17}, {'connected_gene': 'LOC102724892', 'score': 0.25}]
chr1 GH01I085258 85258379 85261158 1.99 [{'connected_gene': 'C1orf52', 'score': 558.85}, {'connected_gene': 'LOC646626', 'score': 9.97}, {'connected_gene': 'BCL10', 'score': 5.71}, {'connected_gene': 'DDAH1', 'score': 5.09}, {'connected_gene': 'ENSG00000223254', 'score': 0.77}]
chr1 GH01I084833 84833298 84833447 0.77 [{'connected_gene': 'C1orf52', 'score': 13.41}, {'connected_gene': 'ENSG00000271576', 'score': 10.51}, {'connected_gene': 'LOC102724892', 'score': 0.28}, {'connected_gene': 'LPAR3', 'score': 0.22}]
chr1 GH01I084618 84618725 84621647 1.46 [{'connected_gene': 'LINC01461', 'score': 550.77}, {'connected_gene': 'ENSG00000271576', 'score': 49.82}, {'connected_gene': 'SPATA1', 'score': 27.01}, {'connected_gene': 'CTBS', 'score': 17.51}, {'connected_gene': 'GNG5', 'score': 15.46}, {'connected_gene': 'C1orf52', 'score': 13.4}, {'connected_gene': 'RPF1', 'score': 10.88}, {'connected_gene': 'SAMD13', 'score': 9.92}, {'connected_gene': 'MCOLN3', 'score': 4.68}, {'connected_gene': 'GC01M084581', 'score': 0.28}]
chr1 GH01I085264 85264238 85264387 0.51 [{'connected_gene': 'ENSG00000223254', 'score': 550.77}, {'connected_gene': 'C1orf52', 'score': 7.6}, {'connected_gene': 'LOC646626', 'score': 0.39}]
chr1 GH01I085263 85263818 85263967 0.4 [{'connected_gene': 'ENSG00000223254', 'score': 550.77}, {'connected_gene': 'C1orf52', 'score': 0.77}]
chr1 GH01I085262 85262735 85263698 0.51 [{'connected_gene': 'ENSG00000223254', 'score': 550.77}, {'connected_gene': 'C1orf52', 'score': 8.85}]

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