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
ENST00000532962 [[43902360, 43902729], [43904132, 43904281], [43904634, 43904738], [43905532, 43905567], [43908155, 43908203], [43911274, 43911378], [43918744, 43918904], [43923065, 43923275], [43940587, 43940686], [43941467, 43941560]] [[43904202, 43904281], [43904634, 43904738], [43905532, 43905567], [43908155, 43908203], [43911274, 43911378], [43918744, 43918890]]
ENST00000302708 [[43902388, 43902729], [43904132, 43904281], [43904634, 43904738], [43905532, 43905567], [43908155, 43908203], [43911274, 43911378], [43913590, 43913679], [43923065, 43923275], [43940587, 43940686], [43941467, 43941762]] [[43904202, 43904281], [43904634, 43904738], [43905532, 43905567], [43908155, 43908203], [43911274, 43911378], [43913590, 43913679], [43923065, 43923275], [43940587, 43940686], [43941467, 43941560]]
ENST00000378840 [[43902394, 43902729], [43904132, 43904281], [43904634, 43904738], [43905532, 43905567], [43908158, 43908203], [43911274, 43911378], [43918744, 43918890]] [[43904202, 43904281], [43904634, 43904738], [43905532, 43905567], [43908158, 43908203], [43911274, 43911378], [43918744, 43918890]]
ENST00000534171 [[43902399, 43902729], [43904132, 43904281], [43904634, 43904738], [43908155, 43908203], [43911274, 43911378], [43923065, 43923094]] [[43904202, 43904281], [43904634, 43904738], [43908155, 43908173]]
ENST00000530803 [[43902423, 43902729], [43904132, 43904281], [43904634, 43904738], [43905532, 43905567], [43908158, 43908203], [43911274, 43911378], [43918744, 43918904], [43923065, 43923275], [43940591, 43940686], [43941467, 43941816]] [[43904202, 43904281], [43904634, 43904738], [43905532, 43905567], [43908158, 43908203], [43911274, 43911378], [43918744, 43918890]]
ENST00000529366 [[43904126, 43904281], [43904634, 43904738], [43905532, 43905567], [43908158, 43908203], [43911274, 43911378], [43913590, 43913679], [43923065, 43923275], [43940587, 43940592]] [[43904202, 43904281], [43904634, 43904738], [43905532, 43905567], [43908158, 43908203], [43911274, 43911378], [43913590, 43913679], [43923065, 43923275], [43940587, 43940592]]
ENST00000533200 [[43904130, 43904281], [43904634, 43904738], [43905532, 43905567], [43908155, 43908203], [43911274, 43911378], [43919175, 43919250]] None
ENST00000530754 [[43904631, 43904738], [43905532, 43905567], [43908155, 43908203], [43911274, 43911378], [43913590, 43913679], [43923065, 43923264]] None
ENST00000532410 [[43904632, 43904738], [43905532, 43905567], [43908155, 43908203], [43911274, 43911378], [43940587, 43940686], [43941467, 43941723]] None
ENST00000527029 [[43902380, 43902729], [43904132, 43904352]] None
ENST00000524742 [[43902404, 43902996], [43904132, 43904281], [43904634, 43904735]] [[43904202, 43904281], [43904634, 43904735]]
ENST00000532129 [[43911311, 43911378], [43923065, 43923275], [43940587, 43940686], [43941467, 43941816]] [[43911311, 43911378], [43923065, 43923275], [43940587, 43940686], [43941467, 43941560]]
ENST00000529434 [[43940353, 43940686], [43941467, 43941816]] None
NM_139178 [[43902356, 43902729], [43904132, 43904281], [43904634, 43904738], [43905532, 43905567], [43908155, 43908203], [43911274, 43911378], [43913590, 43913679], [43923065, 43923275], [43940587, 43940686], [43941467, 43941825]] [[43904202, 43904281], [43904634, 43904738], [43905532, 43905567], [43908155, 43908203], [43911274, 43911378], [43913590, 43913679], [43923065, 43923275], [43940587, 43940686], [43941467, 43941560]]
Promoter
Chrom Start End Description
chr11 43902373 43902416 CAGE_peak_1_at_ALKBH3_5end
chr11 43902620 43902648 CAGE_peak_2_at_ALKBH3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I044065 44065295 44067520 2.03 [{'connected_gene': 'ACCS', 'score': 625.6}, {'connected_gene': 'EXT2', 'score': 21.13}, {'connected_gene': 'SEC14L1P1', 'score': 11.64}, {'connected_gene': 'ALKBH3', 'score': 10.54}, {'connected_gene': 'TTC17', 'score': 10.27}, {'connected_gene': 'ALKBH3-AS1', 'score': 10.01}, {'connected_gene': 'C11orf96', 'score': 10.01}, {'connected_gene': 'ENSG00000255165', 'score': 0.44}, {'connected_gene': 'GC11P043987', 'score': 0.18}]
chr11 GH11I044556 44556451 44558093 1.22 [{'connected_gene': 'SEC14L1P1', 'score': 18.25}, {'connected_gene': 'ALKBH3', 'score': 17.15}, {'connected_gene': 'EXT2', 'score': 17.11}, {'connected_gene': 'ENSG00000254693', 'score': 12.07}, {'connected_gene': 'ENSG00000255092', 'score': 12.05}, {'connected_gene': 'LOC105376644', 'score': 10.94}, {'connected_gene': 'CD82', 'score': 0.44}, {'connected_gene': 'GC11M044543', 'score': 0.39}]
chr11 GH11I043357 43357913 43360918 2.06 [{'connected_gene': 'TTC17', 'score': 564.54}, {'connected_gene': 'ENSG00000254907', 'score': 550.77}, {'connected_gene': 'SEC14L1P1', 'score': 11.57}, {'connected_gene': 'ALKBH3', 'score': 10.48}, {'connected_gene': 'ACCS', 'score': 10.11}, {'connected_gene': 'EXT2', 'score': 9.98}, {'connected_gene': 'API5', 'score': 6.46}, {'connected_gene': 'ENSG00000255340', 'score': 0.31}]
chr11 GH11I043643 43643434 43645487 1.55 [{'connected_gene': 'HSD17B12', 'score': 26.53}, {'connected_gene': 'MIR129-2', 'score': 10.96}, {'connected_gene': 'ALKBH3', 'score': 9.84}, {'connected_gene': 'LOC105376644', 'score': 9.84}, {'connected_gene': 'GC11P043610', 'score': 0.22}, {'connected_gene': 'ENSG00000283341', 'score': 0.2}, {'connected_gene': 'ENSG00000283217', 'score': 0.17}, {'connected_gene': 'LOC101928704', 'score': 0.17}]
chr11 GH11I043787 43787259 43791312 0.82 [{'connected_gene': 'HSD17B12', 'score': 27.4}, {'connected_gene': 'ALKBH3', 'score': 10.13}, {'connected_gene': 'LOC105376644', 'score': 10.13}, {'connected_gene': 'MIR129-2', 'score': 9.9}, {'connected_gene': 'PIR48162', 'score': 0.22}, {'connected_gene': 'ENSG00000283375', 'score': 0.2}, {'connected_gene': 'ENSG00000283341', 'score': 0.08}]
chr11 GH11I043817 43817570 43820173 0.49 [{'connected_gene': 'HSD17B12', 'score': 97.0}, {'connected_gene': 'ALKBH3', 'score': 11.05}, {'connected_gene': 'LOC105376644', 'score': 11.05}, {'connected_gene': 'MIR670', 'score': 10.37}, {'connected_gene': 'MIR670HG', 'score': 10.37}, {'connected_gene': 'MIR129-2', 'score': 9.79}, {'connected_gene': 'ENSG00000283375', 'score': 0.28}, {'connected_gene': 'PIR48162', 'score': 0.18}, {'connected_gene': 'ENSG00000283341', 'score': 0.07}]
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 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 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 GH11I044560 44560859 44571392 2.53 [{'connected_gene': 'CD82', 'score': 575.33}, {'connected_gene': 'ALKBH3', 'score': 22.88}, {'connected_gene': 'SEC14L1P1', 'score': 18.34}, {'connected_gene': 'ENSG00000254693', 'score': 12.27}, {'connected_gene': 'ENSG00000255092', 'score': 12.26}, {'connected_gene': 'EXT2', 'score': 12.12}]
chr11 GH11I044853 44853222 44855217 0.46 [{'connected_gene': 'ALKBH3', 'score': 22.88}, {'connected_gene': 'SEC14L1P1', 'score': 15.38}, {'connected_gene': 'EXT2', 'score': 12.1}, {'connected_gene': 'PRDM11', 'score': 9.83}, {'connected_gene': 'GC11M044917', 'score': 0.2}, {'connected_gene': 'PIR54519', 'score': 0.16}, {'connected_gene': 'TSPAN18', 'score': 0.13}]
chr11 GH11I044445 44445951 44446100 0.57 [{'connected_gene': 'ALKBH3', 'score': 17.15}, {'connected_gene': 'EXT2', 'score': 17.12}, {'connected_gene': 'SEC14L1P1', 'score': 15.28}, {'connected_gene': 'PPIAP41', 'score': 12.85}, {'connected_gene': 'LOC105376644', 'score': 10.94}, {'connected_gene': 'ENSG00000255451', 'score': 0.34}, {'connected_gene': 'ALX4', 'score': 0.13}]
chr11 GH11I043880 43880191 43881744 2.08 [{'connected_gene': 'ALKBH3', 'score': 570.52}, {'connected_gene': 'LOC105376644', 'score': 550.77}, {'connected_gene': 'SEC14L1P1', 'score': 12.44}, {'connected_gene': 'EXT2', 'score': 10.76}, {'connected_gene': 'ENSG00000254409', 'score': 10.33}, {'connected_gene': 'RN7SKP287', 'score': 9.87}]
chr11 GH11I043852 43852151 43852320 0.59 [{'connected_gene': 'ALKBH3', 'score': 11.61}, {'connected_gene': 'LOC105376644', 'score': 11.61}, {'connected_gene': 'HSD17B12', 'score': 11.06}, {'connected_gene': 'MIR129-2', 'score': 11.02}, {'connected_gene': 'ENSG00000283375', 'score': 0.77}, {'connected_gene': 'PIR48162', 'score': 0.13}]
chr11 GH11I043904 43904592 43907143 1.19 [{'connected_gene': 'ALKBH3', 'score': 27.9}, {'connected_gene': 'LOC105376644', 'score': 21.51}, {'connected_gene': 'PPIAP41', 'score': 17.1}, {'connected_gene': 'API5', 'score': 16.68}, {'connected_gene': 'TTC17', 'score': 10.87}, {'connected_gene': 'SEC14L1P1', 'score': 0.44}, {'connected_gene': 'ALKBH3-AS1', 'score': 0.37}]
chr11 GH11I043911 43911966 43914525 0.38 [{'connected_gene': 'ALKBH3', 'score': 21.78}, {'connected_gene': 'LOC105376644', 'score': 10.84}, {'connected_gene': 'ALKBH3-AS1', 'score': 0.44}, {'connected_gene': 'SEC14L1P1', 'score': 0.37}]
chr11 GH11I043910 43910117 43911909 0.31 [{'connected_gene': 'ALKBH3', 'score': 22.29}, {'connected_gene': 'LOC105376644', 'score': 10.84}, {'connected_gene': 'ALKBH3-AS1', 'score': 0.44}, {'connected_gene': 'SEC14L1P1', 'score': 0.39}]
chr11 GH11I043916 43916483 43917407 0.46 [{'connected_gene': 'ALKBH3', 'score': 6.67}, {'connected_gene': 'ALKBH3-AS1', 'score': 0.77}, {'connected_gene': 'SEC14L1P1', 'score': 0.37}]
chr11 GH11I043868 43868376 43869919 1.19 [{'connected_gene': 'ALKBH3-AS1', 'score': 10.65}, {'connected_gene': 'C11orf96', 'score': 10.64}, {'connected_gene': 'HSD17B12', 'score': 9.36}, {'connected_gene': 'ALKBH3', 'score': 9.34}, {'connected_gene': 'MIR129-2', 'score': 9.34}, {'connected_gene': 'ENSG00000283375', 'score': 0.39}, {'connected_gene': 'LOC105376644', 'score': 0.39}]
chr11 GH11I043894 43894671 43894760 0.52 [{'connected_gene': 'ALKBH3-AS1', 'score': 11.58}, {'connected_gene': 'C11orf96', 'score': 11.56}, {'connected_gene': 'ENSG00000254409', 'score': 11.1}, {'connected_gene': 'EXT2', 'score': 9.45}, {'connected_gene': 'ALKBH3', 'score': 8.33}, {'connected_gene': 'SEC14L1P1', 'score': 0.77}]
chr11 GH11I043890 43890311 43890500 0.64 [{'connected_gene': 'ALKBH3-AS1', 'score': 10.99}, {'connected_gene': 'ENSG00000254409', 'score': 10.99}, {'connected_gene': 'EXT2', 'score': 10.12}, {'connected_gene': 'HSD17B12', 'score': 9.55}, {'connected_gene': 'MIR129-2', 'score': 9.53}, {'connected_gene': 'ALKBH3', 'score': 0.44}, {'connected_gene': 'SEC14L1P1', 'score': 0.44}]
chr11 GH11I044530 44530722 44531227 0.94 [{'connected_gene': 'PIR35111', 'score': 550.77}, {'connected_gene': 'SEC14L1P1', 'score': 18.24}, {'connected_gene': 'ALKBH3', 'score': 17.15}, {'connected_gene': 'EXT2', 'score': 17.11}, {'connected_gene': 'LOC105376644', 'score': 10.94}, {'connected_gene': 'LOC646535', 'score': 0.44}]
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 GH11I044531 44530201 44530400 0.82 [{'connected_gene': 'PIR35111', 'score': 550.77}, {'connected_gene': 'ALKBH3', 'score': 17.15}, {'connected_gene': 'EXT2', 'score': 17.11}, {'connected_gene': 'SEC14L1P1', 'score': 15.28}, {'connected_gene': 'LOC105376644', 'score': 10.94}, {'connected_gene': 'LOC105376646', 'score': 0.77}]

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