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
ENST00000369183 [[120065400, 120070420], [120070718, 120070825], [120085665, 120085755], [120094625, 120094725], [120094907, 120094938], [120095065, 120095153], [120095693, 120095935], [120101238, 120101439], [120101781, 120101832]] [[120070368, 120070420], [120070718, 120070825], [120085665, 120085755], [120094625, 120094725], [120094907, 120094938], [120095065, 120095153], [120095693, 120095927]]
ENST00000452252 [[120068117, 120068377], [120068592, 120068644], [120069046, 120069092]] None
ENST00000467890 [[120069925, 120070420], [120070718, 120070998]] None
ENST00000491416 [[120070147, 120070420], [120070718, 120070825], [120085665, 120085861]] None
ENST00000470476 [[120070231, 120070420], [120070718, 120070825], [120081816, 120081923], [120085665, 120085755], [120094625, 120094725], [120094907, 120094938], [120095065, 120095153], [120095693, 120095935], [120101781, 120101827]] [[120070815, 120070825], [120081816, 120081923], [120085665, 120085755], [120094625, 120094725], [120094907, 120094938], [120095065, 120095153], [120095693, 120095927]]
ENST00000469758 [[120070231, 120070420], [120070718, 120070825], [120081816, 120081923], [120085665, 120085755], [120094625, 120094725], [120095065, 120095153], [120095693, 120095935], [120101238, 120101439], [120101781, 120101827]] None
ENST00000369172 [[120070257, 120070420], [120070718, 120070825], [120085665, 120085755], [120094625, 120094725], [120094907, 120094938], [120095065, 120095153], [120095693, 120095935], [120101781, 120101832]] [[120070368, 120070420], [120070718, 120070825], [120085665, 120085755], [120094625, 120094725], [120094907, 120094938], [120095065, 120095153], [120095693, 120095927]]
ENST00000369170 [[120094625, 120094725], [120094907, 120094938], [120095065, 120095153], [120095693, 120095935], [120101238, 120101752]] [[120094625, 120094725], [120094907, 120094938], [120095065, 120095153], [120095693, 120095927]]
ENST00000490048 [[120094769, 120095153], [120095693, 120095935], [120101238, 120101258]] None
ENST00000487269 [[120095536, 120095935], [120101238, 120101439], [120101781, 120101840]] None
NM_022063 [[120068571, 120070420], [120070718, 120070825], [120085665, 120085755], [120094625, 120094725], [120094907, 120094938], [120095065, 120095153], [120095693, 120095935], [120101238, 120101439], [120101781, 120101839]] [[120070368, 120070420], [120070718, 120070825], [120085665, 120085755], [120094625, 120094725], [120094907, 120094938], [120095065, 120095153], [120095693, 120095927]]
NM_001134672 [[120068571, 120070420], [120070718, 120070825], [120085665, 120085755], [120094625, 120094725], [120094907, 120094938], [120095065, 120095153], [120095693, 120095935], [120101781, 120101839]] [[120070368, 120070420], [120070718, 120070825], [120085665, 120085755], [120094625, 120094725], [120094907, 120094938], [120095065, 120095153], [120095693, 120095927]]
Promoter
Chrom Start End Description
chr10 120101443 120101454 CAGE_peak_3_at_FAM204A_5end
chr10 120101779 120101791 CAGE_peak_2_at_FAM204A_5end
chr10 120101804 120101843 CAGE_peak_1_at_FAM204A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I118792 118792001 118793117 0.77 [{'connected_gene': 'FAM204A', 'score': 1.92}, {'connected_gene': 'CACUL1', 'score': 1.39}, {'connected_gene': 'GC10M118785', 'score': 0.44}, {'connected_gene': 'PIR53333', 'score': 0.34}]
chr10 GH10I118373 118373909 118374058 0.54 [{'connected_gene': 'FAM204A', 'score': 11.36}, {'connected_gene': 'LINC00867', 'score': 0.37}, {'connected_gene': 'GC10P118488', 'score': 0.14}]
chr10 GH10I118381 118381884 118382154 0.51 [{'connected_gene': 'FAM204A', 'score': 11.19}, {'connected_gene': 'LINC00867', 'score': 0.34}, {'connected_gene': 'GC10P118488', 'score': 0.14}]
chr10 GH10I118422 118422098 118422475 0.4 [{'connected_gene': 'FAM204A', 'score': 11.0}, {'connected_gene': 'LINC00867', 'score': 0.2}, {'connected_gene': 'GC10P118488', 'score': 0.2}]
chr10 GH10I118421 118421783 118422028 0.4 [{'connected_gene': 'FAM204A', 'score': 11.0}, {'connected_gene': 'LINC00867', 'score': 0.21}, {'connected_gene': 'GC10P118488', 'score': 0.2}]
chr10 GH10I118341 118341198 118343742 2 [{'connected_gene': 'FAM204A', 'score': 550.77}, {'connected_gene': 'PIR61986', 'score': 550.77}, {'connected_gene': 'LINC00867', 'score': 0.39}]
chr10 GH10I118332 118332351 118333390 0.57 [{'connected_gene': 'FAM204A', 'score': 0.44}, {'connected_gene': 'PIR61986', 'score': 0.44}, {'connected_gene': 'GC10M118305', 'score': 0.34}]
chr10 GH10I118338 118338739 118339448 0.31 [{'connected_gene': 'FAM204A', 'score': 0.77}, {'connected_gene': 'PIR61986', 'score': 0.77}, {'connected_gene': 'GC10M118305', 'score': 0.29}]
chr10 GH10I118316 118316954 118317433 0.4 [{'connected_gene': 'FAM204A', 'score': 11.87}, {'connected_gene': 'GC10M118305', 'score': 0.44}, {'connected_gene': 'GC10P118306', 'score': 0.39}, {'connected_gene': 'PIR61986', 'score': 0.34}]
chr10 GH10I118314 118314527 118316184 0.98 [{'connected_gene': 'GC10M118305', 'score': 0.44}, {'connected_gene': 'GC10P118306', 'score': 0.44}, {'connected_gene': 'FAM204A', 'score': 0.31}, {'connected_gene': 'PIR61986', 'score': 0.31}]