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
ENST00000347785 [[60869866, 60870087], [60882527, 60882566], [60885646, 60885952], [60886386, 60886449], [60886705, 60887047], [60889082, 60889376], [60890378, 60890504], [60891355, 60891409], [60892503, 60892623], [60893222, 60893313], [60893759, 60895324]] [[60870032, 60870087], [60882527, 60882566], [60885646, 60885952], [60886386, 60886449], [60886705, 60887047], [60889082, 60889376], [60890378, 60890504], [60891355, 60891409], [60892503, 60892623], [60893222, 60893311]]
ENST00000544014 [[60869980, 60870087], [60882527, 60882566], [60885646, 60885952], [60886386, 60886449], [60886799, 60886831]] [[60870032, 60870087], [60882527, 60882566], [60885646, 60885952], [60886386, 60886449], [60886799, 60886831]]
NM_001346456 [[60861434, 60861788], [60882527, 60882566], [60885646, 60885952], [60886386, 60886449], [60886705, 60887047], [60889082, 60889376], [60890378, 60890504], [60891355, 60891409], [60892503, 60892623], [60893222, 60893313], [60893759, 60895324]] [[60885723, 60885952], [60886386, 60886449], [60886705, 60887047], [60889082, 60889376], [60890378, 60890504], [60891355, 60891409], [60892503, 60892623], [60893222, 60893311]]
NM_014207 [[60869929, 60870087], [60882527, 60882566], [60885646, 60885952], [60886386, 60886449], [60886705, 60887047], [60889082, 60889376], [60890378, 60890504], [60891355, 60891409], [60892503, 60892623], [60893222, 60893313], [60893759, 60895324]] [[60870032, 60870087], [60882527, 60882566], [60885646, 60885952], [60886386, 60886449], [60886705, 60887047], [60889082, 60889376], [60890378, 60890504], [60891355, 60891409], [60892503, 60892623], [60893222, 60893311]]
Promoter
Chrom Start End Description
chr11 60869937 60869979 CAGE_peak_1_at_CD5_5end
chr11 60869980 60869987 CAGE_peak_2_at_CD5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I060970 60970601 60975095 1.72 [{'connected_gene': 'CD6', 'score': 570.28}, {'connected_gene': 'CD5', 'score': 22.13}, {'connected_gene': 'SLC15A3', 'score': 11.97}, {'connected_gene': 'TMEM132A', 'score': 11.87}, {'connected_gene': 'VPS37C', 'score': 10.96}, {'connected_gene': 'CCDC86', 'score': 5.41}, {'connected_gene': 'FTH1', 'score': 4.22}, {'connected_gene': 'SDHAF2', 'score': 1.17}, {'connected_gene': 'RNU6-933P', 'score': 0.39}]
chr11 GH11I061040 61040969 61043954 1.39 [{'connected_gene': 'CD6', 'score': 33.6}, {'connected_gene': 'CD5', 'score': 15.97}, {'connected_gene': 'SLC15A3', 'score': 11.17}, {'connected_gene': 'TMEM132A', 'score': 11.13}, {'connected_gene': 'SDHAF2', 'score': 1.3}, {'connected_gene': 'ENSG00000256733', 'score': 0.39}, {'connected_gene': 'LOC105369326', 'score': 0.29}, {'connected_gene': 'LOC105369325', 'score': 0.25}]
chr11 GH11I061020 61020515 61024269 1.36 [{'connected_gene': 'CD6', 'score': 23.38}, {'connected_gene': 'CD5', 'score': 15.1}, {'connected_gene': 'PPP1R32', 'score': 4.95}, {'connected_gene': 'SDHAF2', 'score': 1.24}, {'connected_gene': 'LOC105369326', 'score': 0.39}, {'connected_gene': 'ENSG00000256733', 'score': 0.29}]
chr11 GH11I061110 61110215 61112253 1.14 [{'connected_gene': 'CD6', 'score': 22.61}, {'connected_gene': 'CD5', 'score': 16.53}, {'connected_gene': 'RNU6-933P', 'score': 11.45}, {'connected_gene': 'VPS37C', 'score': 11.22}, {'connected_gene': 'SDHAF2', 'score': 1.53}, {'connected_gene': 'SLC15A3', 'score': 1.51}, {'connected_gene': 'GC11P061103', 'score': 0.44}, {'connected_gene': 'GC11P061102', 'score': 0.44}, {'connected_gene': 'GC11P061126', 'score': 0.37}, {'connected_gene': 'GC11M061097', 'score': 0.26}]
chr11 GH11I061114 61114462 61115383 0.31 [{'connected_gene': 'CD6', 'score': 11.23}, {'connected_gene': 'CD5', 'score': 4.97}, {'connected_gene': 'GC11P061126', 'score': 0.39}, {'connected_gene': 'GC11P061102', 'score': 0.39}, {'connected_gene': 'GC11P061103', 'score': 0.39}, {'connected_gene': 'GC11M061097', 'score': 0.26}]
chr11 GH11I061173 61173569 61173718 0.74 [{'connected_gene': 'CD6', 'score': 10.97}, {'connected_gene': 'SLC15A3', 'score': 10.83}, {'connected_gene': 'TMEM132A', 'score': 10.82}, {'connected_gene': 'CD5', 'score': 10.68}, {'connected_gene': 'TKFC', 'score': 9.54}, {'connected_gene': 'DDB1', 'score': 9.54}, {'connected_gene': 'GC11P061168', 'score': 0.44}, {'connected_gene': 'PGA3', 'score': 0.31}]
chr11 GH11I061174 61174289 61174478 0.69 [{'connected_gene': 'CD6', 'score': 10.97}, {'connected_gene': 'SLC15A3', 'score': 10.83}, {'connected_gene': 'TMEM132A', 'score': 10.82}, {'connected_gene': 'CD5', 'score': 10.68}, {'connected_gene': 'TKFC', 'score': 9.54}, {'connected_gene': 'DDB1', 'score': 9.54}, {'connected_gene': 'GC11P061168', 'score': 0.44}, {'connected_gene': 'PGA3', 'score': 0.31}]
chr11 GH11I061116 61116034 61117577 0.69 [{'connected_gene': 'CD6', 'score': 12.09}, {'connected_gene': 'RNU6-933P', 'score': 11.54}, {'connected_gene': 'VPS37C', 'score': 10.99}, {'connected_gene': 'GC11P061126', 'score': 0.44}, {'connected_gene': 'GC11P061103', 'score': 0.39}, {'connected_gene': 'CD5', 'score': 0.39}, {'connected_gene': 'GC11P061102', 'score': 0.39}, {'connected_gene': 'GC11M061097', 'score': 0.28}]
chr11 GH11I061148 61148162 61154510 1.55 [{'connected_gene': 'CD5', 'score': 36.21}, {'connected_gene': 'CD6', 'score': 11.22}, {'connected_gene': 'GC11M061097', 'score': 0.77}, {'connected_gene': 'PIR36654', 'score': 0.44}, {'connected_gene': 'GC11M061146', 'score': 0.44}, {'connected_gene': 'VPS37C', 'score': 0.39}]
chr11 GH11I061075 61075781 61076803 0.82 [{'connected_gene': 'CD5', 'score': 11.69}, {'connected_gene': 'CD6', 'score': 11.2}, {'connected_gene': 'SLC15A3', 'score': 4.77}, {'connected_gene': 'TMEM138', 'score': 2.11}, {'connected_gene': 'LOC105369325', 'score': 0.37}, {'connected_gene': 'ENSG00000256733', 'score': 0.34}]
chr11 GH11I061101 61101690 61105409 1.85 [{'connected_gene': 'CD5', 'score': 593.39}, {'connected_gene': 'GC11P061103', 'score': 550.77}, {'connected_gene': 'GC11P061102', 'score': 550.77}, {'connected_gene': 'CD6', 'score': 34.89}, {'connected_gene': 'RNU6-933P', 'score': 11.29}, {'connected_gene': 'VPS37C', 'score': 4.91}, {'connected_gene': 'SDHAF2', 'score': 1.92}, {'connected_gene': 'GC11P061126', 'score': 0.34}, {'connected_gene': 'GC11M061097', 'score': 0.23}]
chr11 GH11I061119 61119280 61121847 1.28 [{'connected_gene': 'CD5', 'score': 43.33}, {'connected_gene': 'CD6', 'score': 26.33}, {'connected_gene': 'RNU6-933P', 'score': 11.54}, {'connected_gene': 'VPS37C', 'score': 10.99}, {'connected_gene': 'FADS1', 'score': 5.49}, {'connected_gene': 'GC11P061126', 'score': 0.44}, {'connected_gene': 'GC11P061103', 'score': 0.37}, {'connected_gene': 'GC11P061102', 'score': 0.37}, {'connected_gene': 'GC11M061097', 'score': 0.29}]
chr11 GH11I061112 61112617 61113522 0.2 [{'connected_gene': 'CD5', 'score': 31.38}, {'connected_gene': 'CD6', 'score': 11.5}, {'connected_gene': 'RNU6-933P', 'score': 11.45}, {'connected_gene': 'VPS37C', 'score': 11.04}, {'connected_gene': 'GC11P061103', 'score': 0.39}, {'connected_gene': 'GC11P061126', 'score': 0.39}, {'connected_gene': 'GC11P061102', 'score': 0.39}, {'connected_gene': 'GC11M061097', 'score': 0.26}]
chr11 GH11I061128 61128925 61133076 1.44 [{'connected_gene': 'CD5', 'score': 33.06}, {'connected_gene': 'CD6', 'score': 11.56}, {'connected_gene': 'RNU6-933P', 'score': 11.33}, {'connected_gene': 'GC11P061126', 'score': 0.77}, {'connected_gene': 'ENSG00000279549', 'score': 0.39}, {'connected_gene': 'GC11M061097', 'score': 0.34}, {'connected_gene': 'VPS37C', 'score': 0.29}]
chr11 GH11I061171 61171565 61173085 0.89 [{'connected_gene': 'CD5', 'score': 25.0}, {'connected_gene': 'CD6', 'score': 10.97}, {'connected_gene': 'RNU6-933P', 'score': 10.92}, {'connected_gene': 'SLC15A3', 'score': 10.83}, {'connected_gene': 'TMEM132A', 'score': 10.82}, {'connected_gene': 'TKFC', 'score': 9.87}, {'connected_gene': 'DDB1', 'score': 9.87}, {'connected_gene': 'GC11P061168', 'score': 0.44}, {'connected_gene': 'PGA3', 'score': 0.29}]
chr11 GH11I061070 61070085 61073692 1.27 [{'connected_gene': 'CD5', 'score': 15.89}, {'connected_gene': 'CD6', 'score': 10.93}, {'connected_gene': 'ENSG00000256733', 'score': 0.37}, {'connected_gene': 'LOC105369325', 'score': 0.34}]
chr11 GH11I061079 61079288 61084398 0.74 [{'connected_gene': 'CD5', 'score': 11.99}, {'connected_gene': 'VPS37C', 'score': 11.39}, {'connected_gene': 'CD6', 'score': 10.89}, {'connected_gene': 'LOC105369325', 'score': 0.39}, {'connected_gene': 'ENSG00000256733', 'score': 0.31}]
chr11 GH11I061106 61106000 61109593 0.49 [{'connected_gene': 'CD5', 'score': 30.91}, {'connected_gene': 'VPS37C', 'score': 15.71}, {'connected_gene': 'RNU6-933P', 'score': 11.29}, {'connected_gene': 'CD6', 'score': 11.03}, {'connected_gene': 'GC11P061103', 'score': 0.44}, {'connected_gene': 'GC11P061102', 'score': 0.44}, {'connected_gene': 'GC11P061126', 'score': 0.37}, {'connected_gene': 'GC11M061097', 'score': 0.25}]
chr11 GH11I061140 61140513 61142306 0.92 [{'connected_gene': 'CD5', 'score': 20.71}, {'connected_gene': 'VPS37C', 'score': 12.39}, {'connected_gene': 'RNU6-933P', 'score': 11.39}, {'connected_gene': 'ENSG00000279549', 'score': 0.77}, {'connected_gene': 'GC11P061126', 'score': 0.39}, {'connected_gene': 'GC11M061097', 'score': 0.39}]
chr11 GH11I061077 61077714 61078350 0.2 [{'connected_gene': 'CD5', 'score': 11.85}, {'connected_gene': 'RNU6-933P', 'score': 10.94}, {'connected_gene': 'CD6', 'score': 10.86}, {'connected_gene': 'LOC105369325', 'score': 0.39}, {'connected_gene': 'ENSG00000256733', 'score': 0.34}]
chr11 GH11I061123 61123657 61125181 0.59 [{'connected_gene': 'CD5', 'score': 35.41}, {'connected_gene': 'GC11P061126', 'score': 0.77}, {'connected_gene': 'GC11P061102', 'score': 0.34}, {'connected_gene': 'GC11P061103', 'score': 0.34}, {'connected_gene': 'GC11M061097', 'score': 0.29}]
chr11 GH11I060909 60909359 60918120 2.74 [{'connected_gene': 'TMEM109', 'score': 555.54}, {'connected_gene': 'GC11M060911', 'score': 550.77}, {'connected_gene': 'LOC105369323', 'score': 550.77}, {'connected_gene': 'CD6', 'score': 12.23}, {'connected_gene': 'CD5', 'score': 10.42}, {'connected_gene': 'PRPF19', 'score': 9.11}, {'connected_gene': 'PTGDR2', 'score': 8.31}, {'connected_gene': 'SLC15A3', 'score': 5.32}, {'connected_gene': 'CYB561A3', 'score': 2.5}, {'connected_gene': 'VPS37C', 'score': 2.14}, {'connected_gene': 'ENSG00000257052', 'score': 0.44}, {'connected_gene': 'PIR49215', 'score': 0.44}, {'connected_gene': 'GC11P060908', 'score': 0.44}]
chr11 GH11I061193 61193204 61194700 0.31 [{'connected_gene': 'PGA3', 'score': 13.44}, {'connected_gene': 'CD5', 'score': 11.03}, {'connected_gene': 'CD6', 'score': 10.86}, {'connected_gene': 'TKFC', 'score': 10.25}, {'connected_gene': 'DDB1', 'score': 10.24}, {'connected_gene': 'GC11P061168', 'score': 0.31}]
chr11 GH11I061133 61133378 61134638 0.38 [{'connected_gene': 'VPS37C', 'score': 12.35}, {'connected_gene': 'CD6', 'score': 11.6}, {'connected_gene': 'CD5', 'score': 11.42}, {'connected_gene': 'RNU6-933P', 'score': 11.33}, {'connected_gene': 'MS4A18', 'score': 9.24}, {'connected_gene': 'GC11P061126', 'score': 0.44}, {'connected_gene': 'ENSG00000279549', 'score': 0.39}, {'connected_gene': 'GC11M061097', 'score': 0.34}]
chr11 GH11I061064 61064981 61067511 0.68 [{'connected_gene': 'VPS37C', 'score': 11.63}, {'connected_gene': 'CD5', 'score': 11.58}, {'connected_gene': 'CD6', 'score': 11.54}, {'connected_gene': 'SLC15A3', 'score': 11.43}, {'connected_gene': 'TMEM132A', 'score': 11.41}, {'connected_gene': 'RNU6-933P', 'score': 11.23}, {'connected_gene': 'ENSG00000256733', 'score': 0.39}, {'connected_gene': 'LOC105369325', 'score': 0.31}]
chr11 GH11I061157 61157672 61165841 2.57 [{'connected_gene': 'VPS37C', 'score': 553.61}, {'connected_gene': 'CD5', 'score': 31.95}, {'connected_gene': 'CD6', 'score': 11.21}, {'connected_gene': 'SLC15A3', 'score': 9.43}, {'connected_gene': 'CYB561A3', 'score': 4.54}, {'connected_gene': 'SDHAF2', 'score': 2.69}, {'connected_gene': 'CPSF7', 'score': 2.66}, {'connected_gene': 'PTGDR2', 'score': 1.44}, {'connected_gene': 'GC11P061168', 'score': 0.44}]
chr11 GH11I060980 60980670 60985328 0.54 [{'connected_gene': 'SLC15A3', 'score': 11.92}, {'connected_gene': 'TMEM132A', 'score': 11.85}, {'connected_gene': 'CD5', 'score': 11.21}, {'connected_gene': 'VPS37C', 'score': 10.97}, {'connected_gene': 'CD6', 'score': 6.04}, {'connected_gene': 'FTH1', 'score': 5.12}, {'connected_gene': 'RNU6-933P', 'score': 0.77}]
chr11 GH11I060975 60975601 60975800 0.4 [{'connected_gene': 'SLC15A3', 'score': 11.97}, {'connected_gene': 'TMEM132A', 'score': 11.86}, {'connected_gene': 'CD5', 'score': 11.21}, {'connected_gene': 'VPS37C', 'score': 10.96}, {'connected_gene': 'CD6', 'score': 0.77}, {'connected_gene': 'RNU6-933P', 'score': 0.44}]
chr11 GH11I060976 60976865 60980370 0.8 [{'connected_gene': 'SLC15A3', 'score': 11.94}, {'connected_gene': 'TMEM132A', 'score': 11.86}, {'connected_gene': 'CD5', 'score': 11.2}, {'connected_gene': 'VPS37C', 'score': 10.96}, {'connected_gene': 'FTH1', 'score': 5.1}, {'connected_gene': 'PTGDR2', 'score': 4.93}, {'connected_gene': 'CD6', 'score': 4.81}, {'connected_gene': 'RNU6-933P', 'score': 0.44}]
chr11 GH11I060985 60985341 60988202 1.15 [{'connected_gene': 'RNU6-933P', 'score': 550.77}, {'connected_gene': 'CD6', 'score': 30.06}, {'connected_gene': 'CD5', 'score': 22.75}, {'connected_gene': 'FTH1', 'score': 4.17}, {'connected_gene': 'SDHAF2', 'score': 2.44}, {'connected_gene': 'TRA-TGC10-1', 'score': 0.44}]
chr11 GH11I061090 61090816 61093650 1.35 [{'connected_gene': 'LOC105369325', 'score': 550.77}, {'connected_gene': 'CD5', 'score': 13.88}, {'connected_gene': 'VPS37C', 'score': 11.11}, {'connected_gene': 'RNU6-933P', 'score': 10.52}, {'connected_gene': 'CPSF7', 'score': 1.18}, {'connected_gene': 'ENSG00000256733', 'score': 0.28}]
chr11 GH11I061146 61146422 61147781 0.71 [{'connected_gene': 'PIR36654', 'score': 550.77}, {'connected_gene': 'ENSG00000279549', 'score': 550.77}, {'connected_gene': 'GC11M061146', 'score': 550.77}, {'connected_gene': 'CD5', 'score': 35.16}, {'connected_gene': 'CD6', 'score': 10.96}, {'connected_gene': 'SDHAF2', 'score': 4.17}, {'connected_gene': 'GC11M061097', 'score': 0.44}, {'connected_gene': 'VPS37C', 'score': 0.39}]
chr11 GH11I061145 61145132 61146103 0.49 [{'connected_gene': 'PIR36654', 'score': 550.77}, {'connected_gene': 'ENSG00000279549', 'score': 550.77}, {'connected_gene': 'GC11M061146', 'score': 550.77}, {'connected_gene': 'CD5', 'score': 35.13}, {'connected_gene': 'GC11M061097', 'score': 0.44}, {'connected_gene': 'VPS37C', 'score': 0.37}]
chr11 GH11I061167 61167147 61168218 1.42 [{'connected_gene': 'GC11P061168', 'score': 550.77}, {'connected_gene': 'CD5', 'score': 19.53}, {'connected_gene': 'SLC15A3', 'score': 5.66}, {'connected_gene': 'CYB561A3', 'score': 5.47}, {'connected_gene': 'CPSF7', 'score': 4.82}, {'connected_gene': 'SDHAF2', 'score': 4.08}, {'connected_gene': 'VPS37C', 'score': 4.03}, {'connected_gene': 'TMEM138', 'score': 1.3}, {'connected_gene': 'PGA3', 'score': 0.28}]
chr11 GH11I061127 61127079 61127839 0.31 [{'connected_gene': 'GC11P061126', 'score': 550.77}, {'connected_gene': 'ENSG00000279549', 'score': 0.37}, {'connected_gene': 'CD5', 'score': 0.31}, {'connected_gene': 'GC11M061097', 'score': 0.31}]
chr11 GH11I061125 61125409 61125558 0.79 [{'connected_gene': 'GC11P061126', 'score': 550.77}, {'connected_gene': 'GC11P061102', 'score': 0.34}, {'connected_gene': 'GC11P061103', 'score': 0.34}, {'connected_gene': 'CD5', 'score': 0.34}, {'connected_gene': 'GC11M061097', 'score': 0.29}]