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
ENST00000531323 [[62437744, 62437825], [62438755, 62439337], [62439424, 62441049]] [[62439217, 62439337], [62439424, 62439586]]
ENST00000377953 [[62439125, 62439337], [62439424, 62441159]] [[62439217, 62439337], [62439424, 62439586]]
NM_001085372 [[62439125, 62439337], [62439424, 62441162]] [[62439217, 62439337], [62439424, 62439586]]
Promoter
Chrom Start End Description
chr11 62439136 62439162 CAGE_peak_1_at_C11orf83_5end
chr11 62439176 62439203 CAGE_peak_2_at_C11orf83_5end
chr11 62439319 62439358 CAGE_peak_3_at_C11orf83_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I062551 62550744 62563608 1.88 [{'connected_gene': 'AHNAK', 'score': 552.89}, {'connected_gene': 'EML3', 'score': 58.61}, {'connected_gene': 'MTA2', 'score': 34.65}, {'connected_gene': 'TUT1', 'score': 32.88}, {'connected_gene': 'TAF6L', 'score': 22.38}, {'connected_gene': 'NXF1', 'score': 19.34}, {'connected_gene': 'LOC105369332', 'score': 18.47}, {'connected_gene': 'WDR74', 'score': 17.7}, {'connected_gene': 'STX5', 'score': 14.3}, {'connected_gene': 'INTS5', 'score': 13.92}, {'connected_gene': 'TTC9C', 'score': 13.15}, {'connected_gene': 'CSKMT', 'score': 12.49}, {'connected_gene': 'GANAB', 'score': 12.19}, {'connected_gene': 'EEF1G', 'score': 12.1}, {'connected_gene': 'INCENP', 'score': 11.79}, {'connected_gene': 'ENSG00000255508', 'score': 11.54}, {'connected_gene': 'ENSG00000254964', 'score': 11.43}, {'connected_gene': 'SNHG1', 'score': 11.29}, {'connected_gene': 'LOC102723765', 'score': 11.17}, {'connected_gene': 'UBXN1', 'score': 10.77}, {'connected_gene': 'SCGB1A1', 'score': 10.76}, {'connected_gene': 'ENSG00000255126', 'score': 10.75}, {'connected_gene': 'ASRGL1', 'score': 10.73}, {'connected_gene': 'BEST1', 'score': 10.64}, {'connected_gene': 'UQCC3', 'score': 10.45}, {'connected_gene': 'LBHD1', 'score': 10.44}, {'connected_gene': 'GC11P062552', 'score': 0.77}, {'connected_gene': 'GC11M062566', 'score': 0.44}]
chr11 GH11I062041 62041386 62049469 1.27 [{'connected_gene': 'CSKMT', 'score': 86.38}, {'connected_gene': 'CPSF7', 'score': 81.91}, {'connected_gene': 'SNHG1', 'score': 78.64}, {'connected_gene': 'GANAB', 'score': 63.72}, {'connected_gene': 'NXF1', 'score': 59.2}, {'connected_gene': 'LOC105369332', 'score': 58.24}, {'connected_gene': 'TMEM138', 'score': 54.15}, {'connected_gene': 'TUT1', 'score': 53.67}, {'connected_gene': 'MTA2', 'score': 46.62}, {'connected_gene': 'INTS5', 'score': 44.98}, {'connected_gene': 'EML3', 'score': 41.73}, {'connected_gene': 'STX5', 'score': 41.7}, {'connected_gene': 'RN7SL23P', 'score': 34.15}, {'connected_gene': 'TAF6L', 'score': 31.74}, {'connected_gene': 'ENSG00000267811', 'score': 24.14}, {'connected_gene': 'WDR74', 'score': 21.39}, {'connected_gene': 'VPS37C', 'score': 20.51}, {'connected_gene': 'LBHD1', 'score': 14.59}, {'connected_gene': 'LRRN4CL', 'score': 11.94}, {'connected_gene': 'ZBTB3', 'score': 11.01}, {'connected_gene': 'UBXN1', 'score': 10.92}, {'connected_gene': 'UQCC3', 'score': 10.78}, {'connected_gene': 'TMEM216', 'score': 10.69}, {'connected_gene': 'TMEM179B', 'score': 10.28}, {'connected_gene': 'AHNAK', 'score': 10.11}, {'connected_gene': 'ENSG00000269176', 'score': 9.76}, {'connected_gene': 'GNG3', 'score': 9.69}, {'connected_gene': 'BEST1', 'score': 9.25}, {'connected_gene': 'RAB3IL1', 'score': 6.94}, {'connected_gene': 'SCGB2A2', 'score': 5.85}, {'connected_gene': 'INCENP', 'score': 5.22}, {'connected_gene': 'GC11P062053', 'score': 0.44}, {'connected_gene': 'RPS2P37', 'score': 0.29}]
chr11 GH11I062664 62664000 62668084 2.06 [{'connected_gene': 'CSKMT', 'score': 598.46}, {'connected_gene': 'ENSG00000255432', 'score': 550.77}, {'connected_gene': 'C11orf98', 'score': 550.77}, {'connected_gene': 'SNORA57', 'score': 550.77}, {'connected_gene': 'GC11P062669', 'score': 550.77}, {'connected_gene': 'EML3', 'score': 55.08}, {'connected_gene': 'SNHG1', 'score': 45.73}, {'connected_gene': 'NXF1', 'score': 43.21}, {'connected_gene': 'MTA2', 'score': 39.33}, {'connected_gene': 'GANAB', 'score': 37.84}, {'connected_gene': 'UBXN1', 'score': 37.22}, {'connected_gene': 'INTS5', 'score': 34.63}, {'connected_gene': 'STX5', 'score': 34.16}, {'connected_gene': 'TAF6L', 'score': 31.42}, {'connected_gene': 'TMEM179B', 'score': 31.01}, {'connected_gene': 'BSCL2', 'score': 28.24}, {'connected_gene': 'LOC105369332', 'score': 28.21}, {'connected_gene': 'TUT1', 'score': 20.77}, {'connected_gene': 'EEF1G', 'score': 10.82}, {'connected_gene': 'TTC9C', 'score': 10.51}, {'connected_gene': 'WDR74', 'score': 10.47}, {'connected_gene': 'IMMP1LP1', 'score': 10.35}, {'connected_gene': 'LRRN4CL', 'score': 10.09}, {'connected_gene': 'UQCC3', 'score': 0.77}, {'connected_gene': 'GC11M062588', 'score': 0.44}, {'connected_gene': 'LBHD1', 'score': 0.44}]
chr11 GH11I062694 62694329 62695400 0.71 [{'connected_gene': 'BSCL2', 'score': 33.32}, {'connected_gene': 'TTC9C', 'score': 14.93}, {'connected_gene': 'LBHD1', 'score': 11.99}, {'connected_gene': 'ENSG00000255432', 'score': 11.97}, {'connected_gene': 'CSKMT', 'score': 11.97}, {'connected_gene': 'SNORA57', 'score': 11.97}, {'connected_gene': 'INTS5', 'score': 11.71}, {'connected_gene': 'GANAB', 'score': 11.69}, {'connected_gene': 'UQCC3', 'score': 11.68}, {'connected_gene': 'EML3', 'score': 11.12}, {'connected_gene': 'ENSG00000254964', 'score': 11.11}, {'connected_gene': 'MTA2', 'score': 11.1}, {'connected_gene': 'POLR2G', 'score': 10.67}, {'connected_gene': 'NXF1', 'score': 10.58}, {'connected_gene': 'SNORD22', 'score': 10.47}, {'connected_gene': 'SLC3A2', 'score': 10.46}, {'connected_gene': 'SNHG1', 'score': 10.46}, {'connected_gene': 'ENSG00000255508', 'score': 10.35}, {'connected_gene': 'TUT1', 'score': 10.35}, {'connected_gene': 'SNORD28', 'score': 10.34}, {'connected_gene': 'AHNAK', 'score': 10.26}, {'connected_gene': 'SCGB1A1', 'score': 10.25}, {'connected_gene': 'ENSG00000255126', 'score': 10.25}, {'connected_gene': 'ASRGL1', 'score': 10.24}, {'connected_gene': 'TAF6L', 'score': 10.18}, {'connected_gene': 'TMEM223', 'score': 5.12}, {'connected_gene': 'PIR36903', 'score': 0.77}, {'connected_gene': 'PIR45319', 'score': 0.44}, {'connected_gene': 'HNRNPUL2-BSCL2', 'score': 0.29}]
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 GH11I062564 62564904 62565504 0.43 [{'connected_gene': 'MIR6747', 'score': 550.77}, {'connected_gene': 'GC11M062566', 'score': 550.77}, {'connected_gene': 'ENSG00000255508', 'score': 11.56}, {'connected_gene': 'TUT1', 'score': 11.56}, {'connected_gene': 'MTA2', 'score': 11.46}, {'connected_gene': 'ENSG00000254964', 'score': 11.45}, {'connected_gene': 'EML3', 'score': 11.43}, {'connected_gene': 'ENSG00000250659', 'score': 11.31}, {'connected_gene': 'LOC102723765', 'score': 11.16}, {'connected_gene': 'SCGB1A1', 'score': 10.75}, {'connected_gene': 'ENSG00000255126', 'score': 10.74}, {'connected_gene': 'ASRGL1', 'score': 10.73}, {'connected_gene': 'LBHD1', 'score': 10.46}, {'connected_gene': 'UQCC3', 'score': 10.46}, {'connected_gene': 'TAF6L', 'score': 8.96}, {'connected_gene': 'EEF1G', 'score': 0.44}, {'connected_gene': 'AHNAK', 'score': 0.44}]
chr11 GH11I062565 62565509 62568058 0.59 [{'connected_gene': 'MIR6747', 'score': 550.77}, {'connected_gene': 'GC11M062566', 'score': 550.77}, {'connected_gene': 'EML3', 'score': 47.88}, {'connected_gene': 'ENSG00000255508', 'score': 11.59}, {'connected_gene': 'TUT1', 'score': 11.56}, {'connected_gene': 'ENSG00000254964', 'score': 11.46}, {'connected_gene': 'MTA2', 'score': 11.46}, {'connected_gene': 'ENSG00000257058', 'score': 11.34}, {'connected_gene': 'ENSG00000250659', 'score': 11.31}, {'connected_gene': 'LOC102723765', 'score': 11.16}, {'connected_gene': 'SCGB1A1', 'score': 10.75}, {'connected_gene': 'ENSG00000255126', 'score': 10.74}, {'connected_gene': 'ASRGL1', 'score': 10.73}, {'connected_gene': 'UQCC3', 'score': 10.46}, {'connected_gene': 'LBHD1', 'score': 10.46}, {'connected_gene': 'TAF6L', 'score': 8.96}, {'connected_gene': 'EEF1G', 'score': 0.44}, {'connected_gene': 'AHNAK', 'score': 0.39}]
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 GH11I062563 62563724 62564282 0.31 [{'connected_gene': 'ENSG00000255508', 'score': 11.56}, {'connected_gene': 'TUT1', 'score': 11.56}, {'connected_gene': 'MTA2', 'score': 11.46}, {'connected_gene': 'ENSG00000254964', 'score': 11.45}, {'connected_gene': 'EML3', 'score': 11.43}, {'connected_gene': 'ENSG00000250659', 'score': 11.31}, {'connected_gene': 'LOC102723765', 'score': 11.16}, {'connected_gene': 'SCGB1A1', 'score': 10.75}, {'connected_gene': 'ENSG00000255126', 'score': 10.74}, {'connected_gene': 'ASRGL1', 'score': 10.73}, {'connected_gene': 'LBHD1', 'score': 10.46}, {'connected_gene': 'UQCC3', 'score': 10.46}, {'connected_gene': 'TAF6L', 'score': 8.96}, {'connected_gene': 'GC11M062566', 'score': 0.77}, {'connected_gene': 'AHNAK', 'score': 0.44}, {'connected_gene': 'EEF1G', 'score': 0.39}]
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}]