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
ENST00000373202 [[72575725, 72575882], [72576566, 72576636], [72604229, 72604395], [72610899, 72610967], [72614464, 72614612], [72617370, 72617447], [72619127, 72619256], [72628101, 72628190], [72629548, 72629654], [72630804, 72630903], [72631593, 72631743], [72633107, 72633346], [72635158, 72635305], [72636297, 72636418], [72636951, 72640930]] [[72576609, 72576636], [72604229, 72604395], [72610899, 72610967], [72614464, 72614612], [72617370, 72617447], [72619127, 72619256], [72628101, 72628190], [72629548, 72629654], [72630804, 72630903], [72631593, 72631743], [72633107, 72633346], [72635158, 72635305], [72636297, 72636418], [72636951, 72637092]]
ENST00000299297 [[72604253, 72604395], [72610899, 72610967], [72614464, 72614612], [72617370, 72617447], [72619127, 72619256], [72620149, 72620243]] [[72604253, 72604395], [72610899, 72610967], [72614464, 72614612], [72617370, 72617447], [72619127, 72619256], [72620149, 72620194]]
ENST00000486993 [[72575716, 72575882], [72576566, 72576636], [72579939, 72580240]] None
ENST00000409118 [[72614462, 72614612], [72617370, 72617447], [72619127, 72619362]] [[72614462, 72614612], [72617370, 72617447], [72619127, 72619307]]
NM_003901 [[72575703, 72575882], [72576566, 72576636], [72604229, 72604395], [72610899, 72610967], [72614464, 72614612], [72617370, 72617447], [72619127, 72619256], [72628101, 72628190], [72629548, 72629654], [72630804, 72630903], [72631593, 72631743], [72633107, 72633346], [72635158, 72635305], [72636297, 72636418], [72636951, 72640946]] [[72576609, 72576636], [72604229, 72604395], [72610899, 72610967], [72614464, 72614612], [72617370, 72617447], [72619127, 72619256], [72628101, 72628190], [72629548, 72629654], [72630804, 72630903], [72631593, 72631743], [72633107, 72633346], [72635158, 72635305], [72636297, 72636418], [72636951, 72637092]]
Promoter
Chrom Start End Description
chr10 72575643 72575753 CAGE_peak_1_at_SGPL1_5end
chr10 72575788 72575797 CAGE_peak_5_at_SGPL1_5end
chr10 72576021 72576064 CAGE_peak_3_at_SGPL1_5end
chr10 72576095 72576115 CAGE_peak_7_at_SGPL1_5end
chr10 72576134 72576161 CAGE_peak_9_at_SGPL1_5end
chr10 72576221 72576232 CAGE_peak_14_at_SGPL1_5end
chr10 72576444 72576454 CAGE_peak_12_at_SGPL1_5end
chr10 72576468 72576497 CAGE_peak_2_at_SGPL1_5end
chr10 72576503 72576516 CAGE_peak_11_at_SGPL1_5end
chr10 72576547 72576568 CAGE_peak_10_at_SGPL1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I070549 70549965 70550114 0.74 [{'connected_gene': 'SGPL1', 'score': 11.45}, {'connected_gene': 'PCBD1', 'score': 11.27}, {'connected_gene': 'PRF1', 'score': 0.23}, {'connected_gene': 'YY1P1', 'score': 0.21}, {'connected_gene': 'PALD1', 'score': 0.16}]
chr10 GH10I070551 70551043 70553978 0.86 [{'connected_gene': 'SGPL1', 'score': 11.46}, {'connected_gene': 'PCBD1', 'score': 11.27}, {'connected_gene': 'PRF1', 'score': 0.23}, {'connected_gene': 'YY1P1', 'score': 0.2}, {'connected_gene': 'PALD1', 'score': 0.16}]
chr10 GH10I070890 70890571 70891534 0.81 [{'connected_gene': 'SGPL1', 'score': 8.89}, {'connected_gene': 'PCBD1', 'score': 8.7}, {'connected_gene': 'ENSG00000271409', 'score': 0.28}]
chr10 GH10I070854 70854004 70854153 0.59 [{'connected_gene': 'SGPL1', 'score': 11.31}, {'connected_gene': 'PCBD1', 'score': 11.08}, {'connected_gene': 'GC10P070863', 'score': 0.44}]
chr10 GH10I070849 70849289 70850680 0.57 [{'connected_gene': 'SGPL1', 'score': 31.94}, {'connected_gene': 'PCBD1', 'score': 11.33}, {'connected_gene': 'GC10P070863', 'score': 0.39}]
chr10 GH10I070831 70831316 70835057 1.28 [{'connected_gene': 'SGPL1', 'score': 30.93}, {'connected_gene': 'PCBD1', 'score': 21.33}, {'connected_gene': 'GC10P070863', 'score': 0.29}]
chr10 GH10I070828 70828681 70831295 0.64 [{'connected_gene': 'SGPL1', 'score': 28.47}, {'connected_gene': 'PCBD1', 'score': 16.05}, {'connected_gene': 'GC10P070863', 'score': 0.29}]
chr10 GH10I070835 70835842 70836754 0.64 [{'connected_gene': 'SGPL1', 'score': 11.63}, {'connected_gene': 'PCBD1', 'score': 10.59}, {'connected_gene': 'GC10P070863', 'score': 0.31}]
chr10 GH10I070851 70851331 70852295 0.79 [{'connected_gene': 'SGPL1', 'score': 39.4}, {'connected_gene': 'PCBD1', 'score': 17.06}, {'connected_gene': 'GC10P070863', 'score': 0.39}]
chr10 GH10I070858 70858284 70859513 0.43 [{'connected_gene': 'SGPL1', 'score': 32.11}, {'connected_gene': 'PCBD1', 'score': 16.41}, {'connected_gene': 'GC10P070863', 'score': 0.77}]
chr10 GH10I070740 70740465 70744920 1.55 [{'connected_gene': 'SGPL1', 'score': 1.32}, {'connected_gene': 'TBATA', 'score': 0.26}, {'connected_gene': 'ADAMTS14', 'score': 0.19}]
chr10 GH10I070843 70843469 70846414 0.67 [{'connected_gene': 'SGPL1', 'score': 39.54}, {'connected_gene': 'TYSND1', 'score': 9.71}, {'connected_gene': 'PCBD1', 'score': 5.8}, {'connected_gene': 'GC10P070863', 'score': 0.37}]
chr10 GH10I070866 70866177 70866871 0.57 [{'connected_gene': 'SGPL1', 'score': 20.6}, {'connected_gene': 'GC10P070863', 'score': 0.77}, {'connected_gene': 'PIR44090', 'score': 0.44}]
chr10 GH10I070815 70815244 70817682 2.04 [{'connected_gene': 'SGPL1', 'score': 571.23}, {'connected_gene': 'GC10P070863', 'score': 0.25}]
chr10 GH10I071632 71632824 71640331 1.49 [{'connected_gene': 'DNAJB12', 'score': 15.7}, {'connected_gene': 'CDH23', 'score': 11.1}, {'connected_gene': 'SLC29A3', 'score': 11.07}, {'connected_gene': 'CDH23-AS1', 'score': 10.9}, {'connected_gene': 'VSIR', 'score': 10.3}, {'connected_gene': 'PSAP', 'score': 5.96}, {'connected_gene': 'SGPL1', 'score': 5.32}, {'connected_gene': 'GC10P071695', 'score': 0.22}, {'connected_gene': 'LOC105378355', 'score': 0.18}]
chr10 GH10I070805 70804525 70804674 0.38 [{'connected_gene': 'PCBD1', 'score': 11.08}, {'connected_gene': 'SGPL1', 'score': 0.39}, {'connected_gene': 'RPS26P40', 'score': 0.39}]
chr10 GH10I070806 70806005 70806154 0.2 [{'connected_gene': 'PCBD1', 'score': 11.2}, {'connected_gene': 'SGPL1', 'score': 0.44}, {'connected_gene': 'RPS26P40', 'score': 0.39}]
chr10 GH10I070887 70887175 70889527 1.5 [{'connected_gene': 'PCBD1', 'score': 561.15}, {'connected_gene': 'SGPL1', 'score': 16.85}, {'connected_gene': 'PIR33878', 'score': 0.39}]
chr10 GH10I070803 70803745 70803894 0.2 [{'connected_gene': 'PCBD1', 'score': 16.18}, {'connected_gene': 'RPS26P40', 'score': 0.44}, {'connected_gene': 'SGPL1', 'score': 0.39}]
chr10 GH10I070804 70803977 70804239 0.2 [{'connected_gene': 'PCBD1', 'score': 11.08}, {'connected_gene': 'RPS26P40', 'score': 0.44}, {'connected_gene': 'SGPL1', 'score': 0.39}]
chr10 GH10I070779 70779097 70780463 0.83 [{'connected_gene': 'TBATA', 'score': 5.02}, {'connected_gene': 'SGPL1', 'score': 2.86}, {'connected_gene': 'ADAMTS14', 'score': 0.14}]
chr10 GH10I071212 71212064 71214797 2.49 [{'connected_gene': 'UNC5B', 'score': 558.25}, {'connected_gene': 'SGPL1', 'score': 12.24}, {'connected_gene': 'UNC5B-AS1', 'score': 0.77}]
chr10 GH10I070867 70867104 70867233 0.6 [{'connected_gene': 'GC10P070863', 'score': 0.77}, {'connected_gene': 'PIR44090', 'score': 0.44}, {'connected_gene': 'SGPL1', 'score': 0.23}]
chr10 GH10I070880 70880124 70880313 0.82 [{'connected_gene': 'PIR33878', 'score': 0.77}, {'connected_gene': 'PCBD1', 'score': 0.44}, {'connected_gene': 'SGPL1', 'score': 0.21}]