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
ENST00000538789 [[26158413, 26158649], [26161512, 26162337], [26163903, 26164045], [26185770, 26185903]] [[26158578, 26158649], [26161512, 26162337], [26163903, 26164045], [26185770, 26185848]]
ENST00000481602 [[26160496, 26160822], [26163903, 26164038]] None
ENST00000374298 [[26160496, 26162337], [26163903, 26164045], [26185770, 26185903]] [[26161483, 26162337], [26163903, 26164045], [26185770, 26185848]]
NM_001287490 [[26158403, 26158649], [26161512, 26162337], [26163903, 26164045], [26185770, 26185949]] [[26158578, 26158649], [26161512, 26162337], [26163903, 26164045], [26185770, 26185848]]
NM_024037 [[26160496, 26162337], [26163903, 26164045], [26185770, 26185949]] [[26161483, 26162337], [26163903, 26164045], [26185770, 26185848]]
Promoter
Chrom Start End Description
chr1 26185844 26185954 CAGE_peak_1_at_C1orf135_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I025834 25834578 25834922 0.31 [{'connected_gene': 'SELENON', 'score': 29.16}, {'connected_gene': 'PAQR7', 'score': 12.15}, {'connected_gene': 'ENSG00000207302', 'score': 12.15}, {'connected_gene': 'EXTL1', 'score': 9.84}, {'connected_gene': 'PIR62460', 'score': 0.77}, {'connected_gene': 'AUNIP', 'score': 0.34}]
chr1 GH01I025835 25835100 25835865 0.43 [{'connected_gene': 'PAQR7', 'score': 18.2}, {'connected_gene': 'ENSG00000236528', 'score': 11.94}, {'connected_gene': 'AUNIP', 'score': 11.94}, {'connected_gene': 'ENSG00000207302', 'score': 11.46}, {'connected_gene': 'ENSG00000252190', 'score': 10.89}, {'connected_gene': 'ENSG00000252691', 'score': 10.89}, {'connected_gene': 'EXTL1', 'score': 10.51}, {'connected_gene': 'RNU6-110P', 'score': 9.85}, {'connected_gene': 'PIR62460', 'score': 0.77}]
chr1 GH01I025858 25858278 25862859 2.55 [{'connected_gene': 'ENSG00000236528', 'score': 550.77}, {'connected_gene': 'AUNIP', 'score': 550.77}, {'connected_gene': 'ARID1A', 'score': 62.5}, {'connected_gene': 'HMGN2', 'score': 42.15}, {'connected_gene': 'MTFR1L', 'score': 39.99}, {'connected_gene': 'ENSG00000261349', 'score': 34.26}, {'connected_gene': 'SELENON', 'score': 29.25}, {'connected_gene': 'LOC101928324', 'score': 21.96}, {'connected_gene': 'RPL17P9', 'score': 20.87}, {'connected_gene': 'ZNF593', 'score': 13.59}, {'connected_gene': 'SYF2', 'score': 12.57}, {'connected_gene': 'LOC101928728', 'score': 11.68}, {'connected_gene': 'RSRP1', 'score': 10.44}, {'connected_gene': 'STMN1', 'score': 10.16}, {'connected_gene': 'PAQR7', 'score': 0.37}]
chr1 GH01I025831 25831383 25833339 0.88 [{'connected_gene': 'PIR56916', 'score': 550.77}, {'connected_gene': 'ENSG00000272478', 'score': 550.77}, {'connected_gene': 'PIR62460', 'score': 550.77}, {'connected_gene': 'SELENON', 'score': 40.63}, {'connected_gene': 'PAQR7', 'score': 12.05}, {'connected_gene': 'ENSG00000207302', 'score': 12.04}, {'connected_gene': 'EXTL1', 'score': 10.82}, {'connected_gene': 'SLC30A2', 'score': 9.86}, {'connected_gene': 'MTFR1L', 'score': 0.39}, {'connected_gene': 'AUNIP', 'score': 0.31}]
chr1 GH01I025903 25903144 25908088 2.26 [{'connected_gene': 'PIR46219', 'score': 550.77}, {'connected_gene': 'STMN1', 'score': 550.77}, {'connected_gene': 'LOC105376885', 'score': 550.77}, {'connected_gene': 'MIR3917', 'score': 550.77}, {'connected_gene': 'MTFR1L', 'score': 25.02}, {'connected_gene': 'GPN2', 'score': 23.24}, {'connected_gene': 'ENSG00000261349', 'score': 20.02}, {'connected_gene': 'ARID1A', 'score': 18.71}, {'connected_gene': 'HMGN2', 'score': 13.71}, {'connected_gene': 'PIGV', 'score': 13.67}, {'connected_gene': 'RPL17P9', 'score': 11.92}, {'connected_gene': 'ENSG00000236528', 'score': 11.9}, {'connected_gene': 'AUNIP', 'score': 11.9}, {'connected_gene': 'RNU6-110P', 'score': 10.8}, {'connected_gene': 'LOC101928324', 'score': 10.59}, {'connected_gene': 'LOC101928728', 'score': 10.47}, {'connected_gene': 'RSRP1', 'score': 10.47}, {'connected_gene': 'EXTL1', 'score': 10.25}, {'connected_gene': 'TRIM63', 'score': 9.4}, {'connected_gene': 'SELENON', 'score': 8.18}]