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
ENST00000257287 [[56815146, 56815225], [56818251, 56818409], [56819250, 56819441], [56820381, 56820549], [56823388, 56823530], [56825847, 56825932], [56830439, 56830568], [56831809, 56832025], [56835228, 56835294], [56837435, 56837574], [56840911, 56841135], [56846308, 56846461], [56847392, 56847545], [56851446, 56851524], [56858099, 56858251], [56865467, 56865583], [56865656, 56865811], [56874492, 56874548], [56875900, 56876069], [56877577, 56877688], [56877965, 56878151], [56883813, 56884023], [56885518, 56885721], [56886841, 56886946], [56890666, 56890780], [56897525, 56899529]] [[56818296, 56818409], [56819250, 56819441], [56820381, 56820549], [56823388, 56823530], [56825847, 56825932], [56830439, 56830568], [56831809, 56832025], [56835228, 56835294], [56837435, 56837574], [56840911, 56841135], [56846308, 56846461], [56847392, 56847545], [56851446, 56851524], [56858099, 56858251], [56865467, 56865583], [56865656, 56865811], [56874492, 56874548], [56875900, 56876069], [56877577, 56877688], [56877965, 56878151], [56883813, 56884023], [56885518, 56885721], [56886841, 56886946], [56890666, 56890769]]
ENST00000506202 [[56831031, 56832025], [56835228, 56835294], [56837435, 56837574], [56840911, 56841135], [56846308, 56846461], [56847392, 56847545], [56851446, 56851524], [56858099, 56858251], [56865467, 56865583], [56865656, 56865811], [56874492, 56874548], [56875900, 56876069], [56877577, 56877688], [56877965, 56878151], [56883813, 56884023], [56885518, 56885721], [56886841, 56886946], [56890666, 56890780], [56897525, 56899270]] None
ENST00000422247 [[56815036, 56815225], [56818251, 56818409], [56819250, 56819441], [56820381, 56820549], [56823388, 56823530], [56825847, 56827091]] [[56818296, 56818409], [56819250, 56819441], [56820381, 56820549], [56823388, 56823530], [56825847, 56825983]]
ENST00000506809 [[56815110, 56815225], [56818251, 56818719]] None
ENST00000515081 [[56820443, 56820549], [56823388, 56823530], [56825847, 56825932], [56830439, 56830568], [56831809, 56832746]] None
NM_025009 [[56814973, 56815225], [56818251, 56818409], [56819250, 56819441], [56820381, 56820549], [56823388, 56823530], [56825847, 56825932], [56830439, 56830568], [56831809, 56832025], [56835228, 56835294], [56837435, 56837574], [56840911, 56841135], [56846308, 56846461], [56847392, 56847545], [56851446, 56851524], [56858099, 56858251], [56865467, 56865583], [56865656, 56865811], [56874492, 56874548], [56875900, 56876069], [56877577, 56877688], [56877965, 56878151], [56883813, 56884023], [56885518, 56885721], [56886841, 56886946], [56890666, 56890780], [56897525, 56899529]] [[56818296, 56818409], [56819250, 56819441], [56820381, 56820549], [56823388, 56823530], [56825847, 56825932], [56830439, 56830568], [56831809, 56832025], [56835228, 56835294], [56837435, 56837574], [56840911, 56841135], [56846308, 56846461], [56847392, 56847545], [56851446, 56851524], [56858099, 56858251], [56865467, 56865583], [56865656, 56865811], [56874492, 56874548], [56875900, 56876069], [56877577, 56877688], [56877965, 56878151], [56883813, 56884023], [56885518, 56885721], [56886841, 56886946], [56890666, 56890769]]
Promoter
Chrom Start End Description
chr4 56814968 56815018 CAGE_peak_1_at_CEP135_5end
chr4 56815072 56815097 CAGE_peak_3_at_CEP135_5end
chr4 56815102 56815127 CAGE_peak_2_at_CEP135_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I055946 55946152 55950874 2.27 [{'connected_gene': 'CEP135', 'score': 567.57}, {'connected_gene': 'LOC105377663', 'score': 550.77}, {'connected_gene': 'RN7SKP30', 'score': 11.89}, {'connected_gene': 'EXOC1', 'score': 6.18}, {'connected_gene': 'GC04P055928', 'score': 0.37}]
chr4 GH04I055543 55543989 55548764 2.06 [{'connected_gene': 'CLOCK', 'score': 559.76}, {'connected_gene': 'ENSG00000272969', 'score': 558.14}, {'connected_gene': 'RN7SKP30', 'score': 46.4}, {'connected_gene': 'TMEM165', 'score': 28.16}, {'connected_gene': 'CEP135', 'score': 14.64}, {'connected_gene': 'AASDH', 'score': 13.03}, {'connected_gene': 'SRP72', 'score': 12.42}, {'connected_gene': 'NMU', 'score': 10.55}, {'connected_gene': 'SRD5A3', 'score': 7.48}]
chr4 GH04I056652 56652118 56657466 1.97 [{'connected_gene': 'HOPX', 'score': 576.01}, {'connected_gene': 'LOC101928815', 'score': 550.77}, {'connected_gene': 'AASDH', 'score': 18.21}, {'connected_gene': 'SRP72', 'score': 15.45}, {'connected_gene': 'CEP135', 'score': 13.64}, {'connected_gene': 'POLR2B', 'score': 12.59}, {'connected_gene': 'SPINK2', 'score': 10.9}, {'connected_gene': 'ENSG00000251799', 'score': 10.89}, {'connected_gene': 'ENSG00000280285', 'score': 0.39}]
chr4 GH04I056906 56906678 56911262 1.99 [{'connected_gene': 'REST', 'score': 550.77}, {'connected_gene': 'NOA1', 'score': 24.01}, {'connected_gene': 'POLR2B', 'score': 23.59}, {'connected_gene': 'AASDH', 'score': 18.18}, {'connected_gene': 'SRP72', 'score': 15.4}, {'connected_gene': 'CEP135', 'score': 13.63}, {'connected_gene': 'ENSG00000269949', 'score': 11.71}, {'connected_gene': 'SPINK2', 'score': 10.65}, {'connected_gene': 'ENSG00000251799', 'score': 10.64}, {'connected_gene': 'RNU6-998P', 'score': 9.76}, {'connected_gene': 'GC04P056945', 'score': 0.28}]
chr4 GH04I055394 55394962 55399618 2.27 [{'connected_gene': 'TMEM165', 'score': 567.86}, {'connected_gene': 'GC04P055398', 'score': 550.77}, {'connected_gene': 'SRD5A3-AS1', 'score': 550.77}, {'connected_gene': 'CEP135', 'score': 20.49}, {'connected_gene': 'RN7SKP30', 'score': 16.57}, {'connected_gene': 'CLOCK', 'score': 15.14}, {'connected_gene': 'AASDH', 'score': 12.28}, {'connected_gene': 'SRD5A3', 'score': 11.84}, {'connected_gene': 'NMU', 'score': 9.93}, {'connected_gene': 'ENSG00000272969', 'score': 7.53}]
chr4 GH04I056385 56385965 56390223 2.31 [{'connected_gene': 'AASDH', 'score': 580.6}, {'connected_gene': 'GC04P056388', 'score': 550.77}, {'connected_gene': 'ENSG00000269921', 'score': 550.77}, {'connected_gene': 'SRP72', 'score': 44.41}, {'connected_gene': 'CEP135', 'score': 12.6}, {'connected_gene': 'ENSG00000251799', 'score': 8.95}, {'connected_gene': 'SPINK2', 'score': 8.95}]
chr4 GH04I056700 56700708 56701844 0.75 [{'connected_gene': 'AASDH', 'score': 16.5}, {'connected_gene': 'SRP72', 'score': 15.43}, {'connected_gene': 'CEP135', 'score': 11.61}, {'connected_gene': 'POLR2B', 'score': 10.48}, {'connected_gene': 'HOPX', 'score': 6.74}, {'connected_gene': 'LOC105377667', 'score': 0.77}, {'connected_gene': 'LOC105377666', 'score': 0.37}]
chr4 GH04I055635 55635801 55637000 1.57 [{'connected_gene': 'NMU', 'score': 550.77}, {'connected_gene': 'SRP72', 'score': 14.75}, {'connected_gene': 'CEP135', 'score': 12.53}, {'connected_gene': 'SRD5A3', 'score': 9.04}, {'connected_gene': 'PDCL2', 'score': 0.26}]
chr4 GH04I056433 56433450 56438274 2.1 [{'connected_gene': 'PAICS', 'score': 550.77}, {'connected_gene': 'GC04P056437', 'score': 550.77}, {'connected_gene': 'GC04P056436', 'score': 550.77}, {'connected_gene': 'PPAT', 'score': 550.77}, {'connected_gene': 'SRP72', 'score': 50.26}, {'connected_gene': 'CEP135', 'score': 35.93}, {'connected_gene': 'AASDH', 'score': 33.8}, {'connected_gene': 'POLR2B', 'score': 32.68}, {'connected_gene': 'RN7SKP30', 'score': 31.62}, {'connected_gene': 'ENSG00000269921', 'score': 14.66}, {'connected_gene': 'ARL9', 'score': 7.67}]
chr4 GH04I055929 55929108 55929442 0.28 [{'connected_gene': 'GC04P055928', 'score': 550.77}, {'connected_gene': 'CEP135', 'score': 5.45}, {'connected_gene': 'EXOC1', 'score': 1.56}, {'connected_gene': 'LOC105377663', 'score': 0.37}]
chr4 GH04I056026 56026715 56026864 0.43 [{'connected_gene': 'GC04P056007', 'score': 0.37}, {'connected_gene': 'KIAA1211', 'score': 0.34}, {'connected_gene': 'CEP135', 'score': 0.18}]