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
ENST00000378832 [[44069530, 44070090], [44071611, 44071671], [44072101, 44072172], [44072884, 44072954], [44073202, 44073269], [44074211, 44074309], [44074540, 44074618], [44074955, 44075056], [44076751, 44076841], [44077589, 44077635], [44077734, 44077876], [44079866, 44080009], [44080095, 44080249], [44081387, 44081527]] [[44069586, 44070090], [44071611, 44071671], [44072101, 44072172], [44072884, 44072954], [44073202, 44073269], [44074211, 44074309], [44074540, 44074618], [44074955, 44075056], [44076751, 44076841], [44077589, 44077635], [44077734, 44077876], [44079866, 44080009], [44080095, 44080249], [44081387, 44081470]]
ENST00000527145 [[44069564, 44070090], [44071564, 44071671], [44072101, 44072172], [44072884, 44072954], [44073202, 44073269], [44074211, 44074309], [44074540, 44074618], [44074955, 44075056], [44076751, 44076841], [44077589, 44077635], [44077734, 44077876], [44079866, 44080009], [44080095, 44080249], [44081387, 44081500]] [[44069586, 44070090], [44071564, 44071588]]
NM_001031854 [[44069530, 44070090], [44071611, 44071671], [44072101, 44072172], [44072884, 44072954], [44073202, 44073269], [44074211, 44074309], [44074540, 44074618], [44074955, 44075056], [44076751, 44076841], [44077589, 44077635], [44077734, 44077876], [44079866, 44080009], [44080095, 44080249], [44081387, 44081527]] [[44069586, 44070090], [44071611, 44071671], [44072101, 44072172], [44072884, 44072954], [44073202, 44073269], [44074211, 44074309], [44074540, 44074618], [44074955, 44075056], [44076751, 44076841], [44077589, 44077635], [44077734, 44077876], [44079866, 44080009], [44080095, 44080249], [44081387, 44081470]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I044029 44029147 44033906 0.92 [{'connected_gene': 'ACCS', 'score': 23.0}, {'connected_gene': 'ENSG00000255165', 'score': 11.01}, {'connected_gene': 'ENSG00000244953', 'score': 6.19}, {'connected_gene': 'EXT2', 'score': 4.89}, {'connected_gene': 'GC11P043987', 'score': 0.26}, {'connected_gene': 'ACCSL', 'score': 0.14}]
chr11 GH11I043941 43941116 43946058 2.13 [{'connected_gene': 'C11orf96', 'score': 550.37}, {'connected_gene': 'SEC14L1P1', 'score': 17.47}, {'connected_gene': 'ALKBH3', 'score': 14.45}, {'connected_gene': 'EXT2', 'score': 14.41}, {'connected_gene': 'ENSG00000254907', 'score': 14.19}, {'connected_gene': 'TTC17', 'score': 13.93}, {'connected_gene': 'ACCS', 'score': 13.88}, {'connected_gene': 'ALKBH3-AS1', 'score': 11.8}, {'connected_gene': 'ENSG00000254409', 'score': 11.8}, {'connected_gene': 'LOC105376644', 'score': 10.33}, {'connected_gene': 'ENSG00000244953', 'score': 6.29}, {'connected_gene': 'ACCSL', 'score': 0.34}]
chr11 GH11I043930 43930992 43931070 0.48 [{'connected_gene': 'C11orf96', 'score': 0.44}, {'connected_gene': 'ACCSL', 'score': 0.44}, {'connected_gene': 'ENSG00000254409', 'score': 0.44}, {'connected_gene': 'ENSG00000244953', 'score': 0.37}]
chr11 GH11I043932 43932777 43934861 1.15 [{'connected_gene': 'C11orf96', 'score': 0.44}, {'connected_gene': 'ENSG00000244953', 'score': 0.39}, {'connected_gene': 'ACCSL', 'score': 0.39}, {'connected_gene': 'ENSG00000254409', 'score': 0.39}]
chr11 GH11I043935 43935167 43935514 0.43 [{'connected_gene': 'C11orf96', 'score': 0.44}, {'connected_gene': 'ENSG00000244953', 'score': 0.39}, {'connected_gene': 'ACCSL', 'score': 0.39}, {'connected_gene': 'ENSG00000254409', 'score': 0.39}]
chr11 GH11I043917 43917516 43929604 1.46 [{'connected_gene': 'C11orf96', 'score': 550.77}, {'connected_gene': 'ALKBH3', 'score': 13.48}, {'connected_gene': 'ALKBH3-AS1', 'score': 6.21}, {'connected_gene': 'ACCSL', 'score': 0.77}, {'connected_gene': 'ENSG00000254409', 'score': 0.77}]
chr11 GH11I044036 44036979 44037333 0.57 [{'connected_gene': 'C11orf96', 'score': 10.93}, {'connected_gene': 'ALKBH3-AS1', 'score': 10.92}, {'connected_gene': 'ACCS', 'score': 0.31}, {'connected_gene': 'GC11P043987', 'score': 0.25}, {'connected_gene': 'ACCSL', 'score': 0.13}]
chr11 GH11I044037 44037411 44037620 0.85 [{'connected_gene': 'C11orf96', 'score': 10.93}, {'connected_gene': 'ALKBH3-AS1', 'score': 10.92}, {'connected_gene': 'ACCS', 'score': 0.31}, {'connected_gene': 'GC11P043987', 'score': 0.23}, {'connected_gene': 'ACCSL', 'score': 0.13}]
chr11 GH11I043962 43962247 43963286 0.43 [{'connected_gene': 'C11orf96', 'score': 11.53}, {'connected_gene': 'ALKBH3-AS1', 'score': 11.51}, {'connected_gene': 'ENSG00000254409', 'score': 11.06}, {'connected_gene': 'ENSG00000244953', 'score': 0.37}, {'connected_gene': 'GC11P043987', 'score': 0.34}, {'connected_gene': 'ACCSL', 'score': 0.26}]
chr11 GH11I043953 43953566 43955008 0.59 [{'connected_gene': 'C11orf96', 'score': 11.76}, {'connected_gene': 'ALKBH3-AS1', 'score': 11.74}, {'connected_gene': 'ENSG00000254409', 'score': 11.67}, {'connected_gene': 'ALKBH3', 'score': 11.07}, {'connected_gene': 'LOC105376644', 'score': 11.07}, {'connected_gene': 'ENSG00000244953', 'score': 0.44}, {'connected_gene': 'GC11P043987', 'score': 0.29}, {'connected_gene': 'ACCSL', 'score': 0.29}]
chr11 GH11I043950 43950906 43952060 0.7 [{'connected_gene': 'C11orf96', 'score': 11.76}, {'connected_gene': 'ALKBH3-AS1', 'score': 11.74}, {'connected_gene': 'ENSG00000254409', 'score': 11.34}, {'connected_gene': 'ALKBH3', 'score': 11.07}, {'connected_gene': 'LOC105376644', 'score': 11.07}, {'connected_gene': 'ENSG00000244953', 'score': 0.77}, {'connected_gene': 'ACCSL', 'score': 0.29}, {'connected_gene': 'GC11P043987', 'score': 0.28}]
chr11 GH11I044034 44034524 44035834 0.2 [{'connected_gene': 'C11orf96', 'score': 10.94}, {'connected_gene': 'ALKBH3-AS1', 'score': 10.93}, {'connected_gene': 'EXT2', 'score': 4.74}, {'connected_gene': 'ACCS', 'score': 0.29}, {'connected_gene': 'GC11P043987', 'score': 0.25}, {'connected_gene': 'ACCSL', 'score': 0.14}]
chr11 GH11I044007 44007125 44007983 0.43 [{'connected_gene': 'ALKBH3-AS1', 'score': 10.81}, {'connected_gene': 'ENSG00000254409', 'score': 10.81}, {'connected_gene': 'ENSG00000244953', 'score': 4.94}, {'connected_gene': 'GC11P043987', 'score': 0.34}, {'connected_gene': 'ACCS', 'score': 0.22}, {'connected_gene': 'ACCSL', 'score': 0.17}]
chr11 GH11I043992 43992282 43993839 0.86 [{'connected_gene': 'ALKBH3-AS1', 'score': 11.46}, {'connected_gene': 'ENSG00000254409', 'score': 11.46}, {'connected_gene': 'GC11P043987', 'score': 0.44}, {'connected_gene': 'ACCS', 'score': 0.19}, {'connected_gene': 'ACCSL', 'score': 0.19}]
chr11 GH11I044013 44013732 44015895 0.43 [{'connected_gene': 'ALKBH3-AS1', 'score': 10.8}, {'connected_gene': 'ENSG00000254409', 'score': 10.8}, {'connected_gene': 'ACCS', 'score': 7.64}, {'connected_gene': 'EXT2', 'score': 5.3}, {'connected_gene': 'GC11P043987', 'score': 0.31}, {'connected_gene': 'ACCSL', 'score': 0.16}]
chr11 GH11I044018 44018035 44018541 0.31 [{'connected_gene': 'ENSG00000244953', 'score': 6.54}, {'connected_gene': 'GC11P043987', 'score': 0.29}, {'connected_gene': 'ACCS', 'score': 0.25}, {'connected_gene': 'ACCSL', 'score': 0.15}]
chr11 GH11I044006 44006158 44006435 0.2 [{'connected_gene': 'GC11P043987', 'score': 0.37}, {'connected_gene': 'ACCS', 'score': 0.22}, {'connected_gene': 'ACCSL', 'score': 0.17}]
chr11 GH11I044016 44016231 44016380 0.4 [{'connected_gene': 'GC11P043987', 'score': 0.31}, {'connected_gene': 'ACCS', 'score': 0.25}, {'connected_gene': 'ACCSL', 'score': 0.15}]
chr11 GH11I044005 44005311 44005460 0.63 [{'connected_gene': 'GC11P043987', 'score': 0.37}, {'connected_gene': 'ACCS', 'score': 0.21}, {'connected_gene': 'ACCSL', 'score': 0.18}]
chr11 GH11I043986 43986627 43990775 1.16 [{'connected_gene': 'GC11P043987', 'score': 550.77}, {'connected_gene': 'ENSG00000244953', 'score': 5.24}, {'connected_gene': 'ACCSL', 'score': 0.2}, {'connected_gene': 'ENSG00000254409', 'score': 0.2}, {'connected_gene': 'ACCS', 'score': 0.18}]
chr11 GH11I043984 43984873 43985675 0.74 [{'connected_gene': 'GC11P043987', 'score': 0.77}, {'connected_gene': 'ENSG00000244953', 'score': 0.28}, {'connected_gene': 'ACCSL', 'score': 0.21}, {'connected_gene': 'ENSG00000254409', 'score': 0.21}]
chr11 GH11I043936 43936699 43938685 1.1 [{'connected_gene': 'ENSG00000244953', 'score': 0.44}, {'connected_gene': 'C11orf96', 'score': 0.39}, {'connected_gene': 'ACCSL', 'score': 0.37}, {'connected_gene': 'ENSG00000254409', 'score': 0.37}]
chr11 GH11I043946 43946855 43948140 0.96 [{'connected_gene': 'ENSG00000244953', 'score': 557.71}, {'connected_gene': 'C11orf96', 'score': 11.79}, {'connected_gene': 'ALKBH3-AS1', 'score': 11.77}, {'connected_gene': 'ENSG00000254409', 'score': 11.77}, {'connected_gene': 'ALKBH3', 'score': 11.08}, {'connected_gene': 'LOC105376644', 'score': 11.08}, {'connected_gene': 'ACCSL', 'score': 0.31}, {'connected_gene': 'GC11P043987', 'score': 0.28}]
chr11 GH11I044010 44010845 44011088 0.45 [{'connected_gene': 'ENSG00000254409', 'score': 10.81}, {'connected_gene': 'ALKBH3-AS1', 'score': 10.8}, {'connected_gene': 'C11orf96', 'score': 1.47}, {'connected_gene': 'GC11P043987', 'score': 0.34}, {'connected_gene': 'ACCS', 'score': 0.23}, {'connected_gene': 'ACCSL', 'score': 0.17}]