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
ENST00000265471 [[62382767, 62383271], [62383977, 62384268], [62384458, 62384819], [62387968, 62388143], [62389337, 62389647]] [[62383172, 62383271], [62383977, 62384268], [62384458, 62384819], [62387968, 62388143], [62389337, 62389419]]
ENST00000531383 [[62382768, 62383708], [62383977, 62384268], [62384458, 62384819], [62387968, 62388143], [62389337, 62389626]] [[62383657, 62383708], [62383977, 62384268], [62384458, 62384819], [62387968, 62388143], [62389337, 62389419]]
ENST00000532585 [[62382922, 62383271], [62383977, 62384268], [62384458, 62384819], [62387968, 62388143], [62388526, 62388765], [62389337, 62389456]] [[62388730, 62388765], [62389337, 62389419]]
ENST00000534026 [[62383538, 62383712], [62383977, 62384268], [62384458, 62384819], [62387968, 62388143], [62389337, 62389456]] [[62383673, 62383712], [62383977, 62384268], [62384458, 62384819], [62387968, 62388143], [62389337, 62389419]]
ENST00000533303 [[62384160, 62384268], [62384458, 62384926]] None
ENST00000534715 [[62384476, 62384819], [62387968, 62388143], [62388526, 62388595], [62389337, 62389618]] [[62384476, 62384819], [62387968, 62388143], [62388526, 62388595], [62389337, 62389419]]
NM_001288721 [[62382767, 62383271], [62383977, 62384268], [62384458, 62384819], [62387968, 62388143], [62388526, 62388765], [62389337, 62389647]] [[62383172, 62383271], [62383977, 62384268], [62384458, 62384819], [62387968, 62388143], [62388526, 62388587]]
NM_001288723 [[62382767, 62383712], [62383977, 62384268], [62384458, 62384819], [62387968, 62388143], [62389337, 62389647]] [[62383673, 62383712], [62383977, 62384268], [62384458, 62384819], [62387968, 62388143], [62389337, 62389419]]
NM_001288722 [[62382767, 62383708], [62383977, 62384268], [62384458, 62384819], [62387968, 62388143], [62389337, 62389647]] [[62383657, 62383708], [62383977, 62384268], [62384458, 62384819], [62387968, 62388143], [62389337, 62389419]]
NM_012200 [[62382767, 62383271], [62383977, 62384268], [62384458, 62384819], [62387968, 62388143], [62389337, 62389647]] [[62383172, 62383271], [62383977, 62384268], [62384458, 62384819], [62387968, 62388143], [62389337, 62389419]]
NR_109991 [[62382767, 62383271], [62383977, 62384268], [62384458, 62384819], [62387968, 62388143], [62389347, 62389647]] None
Promoter
Chrom Start End Description
chr11 62385346 62385350 CAGE_peak_5_at_B3GAT3_5end
chr11 62389432 62389441 CAGE_peak_3_at_B3GAT3_5end
chr11 62389449 62389465 CAGE_peak_1_at_B3GAT3_5end
chr11 62389512 62389515 CAGE_peak_7_at_B3GAT3_5end
chr11 62389577 62389618 CAGE_peak_2_at_B3GAT3_5end
chr11 62389621 62389638 CAGE_peak_4_at_B3GAT3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I062651 62651706 62654001 2.11 [{'connected_gene': 'INTS5', 'score': 573.11}, {'connected_gene': 'EML3', 'score': 38.36}, {'connected_gene': 'CSKMT', 'score': 32.39}, {'connected_gene': 'MTA2', 'score': 27.27}, {'connected_gene': 'NXF1', 'score': 27.13}, {'connected_gene': 'SNHG1', 'score': 24.34}, {'connected_gene': 'STX5', 'score': 22.79}, {'connected_gene': 'GANAB', 'score': 22.61}, {'connected_gene': 'LOC105369332', 'score': 21.2}, {'connected_gene': 'TAF6L', 'score': 20.76}, {'connected_gene': 'TUT1', 'score': 14.8}, {'connected_gene': 'WDR74', 'score': 12.14}, {'connected_gene': 'TMEM179B', 'score': 11.94}, {'connected_gene': 'LRRN4CL', 'score': 10.77}, {'connected_gene': 'UBXN1', 'score': 10.58}, {'connected_gene': 'TTC9C', 'score': 10.48}, {'connected_gene': 'B3GAT3', 'score': 9.25}, {'connected_gene': 'PIR61413', 'score': 0.77}, {'connected_gene': 'GC11M062814', 'score': 0.77}, {'connected_gene': 'ENSG00000255432', 'score': 0.39}, {'connected_gene': 'GC11M062588', 'score': 0.34}]
chr11 GH11I062537 62537957 62549868 2.65 [{'connected_gene': 'AHNAK', 'score': 554.9}, {'connected_gene': 'EML3', 'score': 38.07}, {'connected_gene': 'NXF1', 'score': 16.95}, {'connected_gene': 'TAF6L', 'score': 13.5}, {'connected_gene': 'TUT1', 'score': 10.97}, {'connected_gene': 'STX5', 'score': 7.73}, {'connected_gene': 'WDR74', 'score': 5.62}, {'connected_gene': 'B3GAT3', 'score': 5.27}, {'connected_gene': 'SLC3A2', 'score': 4.11}, {'connected_gene': 'UBXN1', 'score': 1.66}, {'connected_gene': 'ENSG00000257058', 'score': 0.77}, {'connected_gene': 'ENSG00000250659', 'score': 0.44}]
chr11 GH11I062760 62760909 62762826 1.98 [{'connected_gene': 'POLR2G', 'score': 550.77}, {'connected_gene': 'B3GAT3', 'score': 4.37}, {'connected_gene': 'TAF6L', 'score': 0.44}]
chr11 GH11I062620 62620202 62623511 2.09 [{'connected_gene': 'B3GAT3', 'score': 550.77}, {'connected_gene': 'NXF1', 'score': 40.12}, {'connected_gene': 'BSCL2', 'score': 30.42}, {'connected_gene': 'CSKMT', 'score': 30.3}, {'connected_gene': 'GANAB', 'score': 29.67}, {'connected_gene': 'INTS5', 'score': 28.12}, {'connected_gene': 'EML3', 'score': 26.86}, {'connected_gene': 'MTA2', 'score': 23.78}, {'connected_gene': 'STX5', 'score': 23.74}, {'connected_gene': 'LOC105369332', 'score': 22.33}, {'connected_gene': 'TUT1', 'score': 19.87}, {'connected_gene': 'TMEM179B', 'score': 18.53}, {'connected_gene': 'UBXN1', 'score': 18.44}, {'connected_gene': 'SNHG1', 'score': 17.05}, {'connected_gene': 'TAF6L', 'score': 11.64}, {'connected_gene': 'LBHD1', 'score': 4.42}, {'connected_gene': 'GC11M062617', 'score': 0.77}, {'connected_gene': 'GC11M062588', 'score': 0.23}]
chr11 GH11I062637 62637380 62639961 0.31 [{'connected_gene': 'EML3', 'score': 39.88}, {'connected_gene': 'LBHD1', 'score': 11.5}, {'connected_gene': 'UQCC3', 'score': 11.5}, {'connected_gene': 'ENSG00000255432', 'score': 11.43}, {'connected_gene': 'CSKMT', 'score': 11.37}, {'connected_gene': 'SNORA57', 'score': 11.37}, {'connected_gene': 'ENSG00000254964', 'score': 11.22}, {'connected_gene': 'MTA2', 'score': 11.2}, {'connected_gene': 'ENSG00000255508', 'score': 11.01}, {'connected_gene': 'TUT1', 'score': 11.01}, {'connected_gene': 'EEF1G', 'score': 10.21}, {'connected_gene': 'TAF6L', 'score': 9.39}, {'connected_gene': 'TMEM223', 'score': 5.12}, {'connected_gene': 'GANAB', 'score': 0.44}, {'connected_gene': 'B3GAT3', 'score': 0.37}, {'connected_gene': 'GC11M062588', 'score': 0.29}]
chr11 GH11I062569 62569366 62571018 0.38 [{'connected_gene': 'EML3', 'score': 33.4}, {'connected_gene': 'ENSG00000255508', 'score': 11.59}, {'connected_gene': 'TUT1', 'score': 11.59}, {'connected_gene': 'MTA2', 'score': 11.48}, {'connected_gene': 'ENSG00000254964', 'score': 11.46}, {'connected_gene': 'ENSG00000257058', 'score': 11.34}, {'connected_gene': 'ENSG00000250659', 'score': 11.29}, {'connected_gene': 'LOC102723765', 'score': 11.15}, {'connected_gene': 'SCGB1A1', 'score': 10.75}, {'connected_gene': 'ENSG00000255126', 'score': 10.75}, {'connected_gene': 'ASRGL1', 'score': 10.72}, {'connected_gene': 'LBHD1', 'score': 10.46}, {'connected_gene': 'UQCC3', 'score': 10.46}, {'connected_gene': 'TAF6L', 'score': 8.96}, {'connected_gene': 'B3GAT3', 'score': 5.28}, {'connected_gene': 'MIR6747', 'score': 0.77}, {'connected_gene': 'EEF1G', 'score': 0.77}]
chr11 GH11I062610 62610096 62615429 2.01 [{'connected_gene': 'EML3', 'score': 584.37}, {'connected_gene': 'GC11P062614', 'score': 550.77}, {'connected_gene': 'GC11P062612', 'score': 550.77}, {'connected_gene': 'ROM1', 'score': 550.77}, {'connected_gene': 'INTS5', 'score': 22.91}, {'connected_gene': 'TUT1', 'score': 21.31}, {'connected_gene': 'WDR74', 'score': 17.16}, {'connected_gene': 'CSKMT', 'score': 12.38}, {'connected_gene': 'GANAB', 'score': 11.65}, {'connected_gene': 'ENSG00000255508', 'score': 11.26}, {'connected_gene': 'EEF1G', 'score': 11.2}, {'connected_gene': 'LRRN4CL', 'score': 10.85}, {'connected_gene': 'AHNAK', 'score': 10.76}, {'connected_gene': 'UBXN1', 'score': 10.28}, {'connected_gene': 'TAF6L', 'score': 10.14}, {'connected_gene': 'LBHD1', 'score': 4.3}, {'connected_gene': 'B3GAT3', 'score': 0.44}, {'connected_gene': 'GC11M062588', 'score': 0.21}]
chr11 GH11I062640 62640329 62641868 1.29 [{'connected_gene': 'GANAB', 'score': 564.82}, {'connected_gene': 'EML3', 'score': 17.86}, {'connected_gene': 'CSKMT', 'score': 4.63}, {'connected_gene': 'B3GAT3', 'score': 0.37}, {'connected_gene': 'GC11M062588', 'score': 0.29}]
chr11 GH11I062645 62645001 62647728 2.03 [{'connected_gene': 'GANAB', 'score': 576.93}, {'connected_gene': 'EML3', 'score': 37.74}, {'connected_gene': 'NXF1', 'score': 21.82}, {'connected_gene': 'INTS5', 'score': 16.36}, {'connected_gene': 'CSKMT', 'score': 13.38}, {'connected_gene': 'MTA2', 'score': 12.72}, {'connected_gene': 'LOC105369332', 'score': 12.64}, {'connected_gene': 'STX5', 'score': 11.83}, {'connected_gene': 'UBXN1', 'score': 10.08}, {'connected_gene': 'TMEM179B', 'score': 9.92}, {'connected_gene': 'TUT1', 'score': 9.92}, {'connected_gene': 'B3GAT3', 'score': 0.34}, {'connected_gene': 'GC11M062588', 'score': 0.31}]
chr11 GH11I062669 62669404 62673573 2.08 [{'connected_gene': 'GC11M062588', 'score': 550.77}, {'connected_gene': 'LBHD1', 'score': 550.77}, {'connected_gene': 'UQCC3', 'score': 550.77}, {'connected_gene': 'EML3', 'score': 60.44}, {'connected_gene': 'LOC105369332', 'score': 44.86}, {'connected_gene': 'GANAB', 'score': 43.53}, {'connected_gene': 'STX5', 'score': 42.69}, {'connected_gene': 'MTA2', 'score': 41.76}, {'connected_gene': 'NXF1', 'score': 37.17}, {'connected_gene': 'UBXN1', 'score': 37.02}, {'connected_gene': 'INTS5', 'score': 34.61}, {'connected_gene': 'WDR74', 'score': 32.57}, {'connected_gene': 'CSKMT', 'score': 31.08}, {'connected_gene': 'SNHG1', 'score': 29.3}, {'connected_gene': 'TTC9C', 'score': 21.84}, {'connected_gene': 'TMEM179B', 'score': 20.07}, {'connected_gene': 'B3GAT3', 'score': 17.02}, {'connected_gene': 'TUT1', 'score': 12.55}, {'connected_gene': 'ROM1', 'score': 11.39}, {'connected_gene': 'EEF1G', 'score': 10.82}, {'connected_gene': 'IMMP1LP1', 'score': 10.35}, {'connected_gene': 'LRRN4CL', 'score': 10.11}, {'connected_gene': 'TAF6L', 'score': 10.04}]
chr11 GH11I062712 62712169 62715682 0.94 [{'connected_gene': 'PIR38618', 'score': 550.77}, {'connected_gene': 'TTC9C', 'score': 17.28}, {'connected_gene': 'UBXN1', 'score': 12.18}, {'connected_gene': 'LBHD1', 'score': 12.15}, {'connected_gene': 'LRRN4CL', 'score': 11.71}, {'connected_gene': 'POLR2G', 'score': 11.54}, {'connected_gene': 'GANAB', 'score': 11.19}, {'connected_gene': 'B3GAT3', 'score': 11.14}, {'connected_gene': 'UQCC3', 'score': 11.14}, {'connected_gene': 'EML3', 'score': 11.13}, {'connected_gene': 'ROM1', 'score': 11.13}, {'connected_gene': 'ENSG00000255432', 'score': 11.02}, {'connected_gene': 'TAF6L', 'score': 10.97}, {'connected_gene': 'CSKMT', 'score': 10.82}, {'connected_gene': 'SNORA57', 'score': 10.82}, {'connected_gene': 'INTS5', 'score': 10.74}, {'connected_gene': 'WDR74', 'score': 10.68}, {'connected_gene': 'ENSG00000255508', 'score': 10.63}, {'connected_gene': 'TUT1', 'score': 10.63}, {'connected_gene': 'EEF1G', 'score': 10.63}, {'connected_gene': 'ENSG00000254964', 'score': 10.54}, {'connected_gene': 'MTA2', 'score': 10.54}, {'connected_gene': 'SLC3A2', 'score': 10.34}, {'connected_gene': 'SNORD28', 'score': 10.34}, {'connected_gene': 'SNHG1', 'score': 10.34}, {'connected_gene': 'STX5', 'score': 10.33}, {'connected_gene': 'LOC105369332', 'score': 10.33}, {'connected_gene': 'SNORD22', 'score': 10.19}, {'connected_gene': 'BSCL2', 'score': 0.77}, {'connected_gene': 'HNRNPUL2', 'score': 0.39}, {'connected_gene': 'HNRNPUL2-BSCL2', 'score': 0.39}]

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