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
ENST00000368250 [[128029216, 128031161], [128040832, 128040968], [128134027, 128135076], [128150620, 128151079], [128176174, 128176333], [128221986, 128222226], [128239572, 128239685]] [[128031129, 128031161], [128040832, 128040968], [128134027, 128135076], [128150620, 128151079], [128176174, 128176187]]
ENST00000368248 [[128029338, 128031161], [128040832, 128040968], [128134027, 128135076], [128150620, 128151079], [128176174, 128176333], [128221986, 128222226]] [[128031129, 128031161], [128040832, 128040968], [128134027, 128135076], [128150620, 128151079], [128176174, 128176333], [128221986, 128222077]]
ENST00000543064 [[128029338, 128031161], [128040832, 128040968], [128128360, 128128477], [128134027, 128135076], [128150620, 128151079], [128176174, 128176333], [128221986, 128222226]] [[128031129, 128031161], [128040832, 128040968], [128128360, 128128477], [128134027, 128135076], [128150620, 128151079], [128176174, 128176333], [128221986, 128222077]]
ENST00000537166 [[128029338, 128031161], [128040832, 128040968], [128134027, 128135076], [128150620, 128151079], [128176174, 128176333], [128239572, 128239776]] [[128031129, 128031161], [128040832, 128040968], [128134027, 128135076], [128150620, 128151079], [128176174, 128176319]]
ENST00000434358 [[128134721, 128135076], [128176174, 128176333], [128221986, 128222103]] [[128134721, 128135076], [128176174, 128176187]]
NM_001318531 [[128029338, 128031161], [128040832, 128040968], [128134027, 128135076], [128150620, 128151079], [128163052, 128163232], [128173040, 128173165], [128176174, 128176333]] [[128031129, 128031161], [128040832, 128040968], [128134027, 128135076], [128150620, 128151038]]
NM_001164685 [[128029338, 128031161], [128040832, 128040968], [128128360, 128128477], [128134027, 128135076], [128150620, 128151079], [128176174, 128176333], [128221986, 128222226]] [[128031129, 128031161], [128040832, 128040968], [128128360, 128128477], [128134027, 128135076], [128150620, 128151079], [128176174, 128176333], [128221986, 128222077]]
NM_001010923 [[128029338, 128031161], [128040832, 128040968], [128134027, 128135076], [128150620, 128151079], [128176174, 128176333], [128221986, 128222226]] [[128031129, 128031161], [128040832, 128040968], [128134027, 128135076], [128150620, 128151079], [128176174, 128176333], [128221986, 128222077]]
NM_001164687 [[128029338, 128031161], [128040832, 128040968], [128134027, 128135076], [128150620, 128151079], [128176174, 128176333], [128239572, 128239776]] [[128031129, 128031161], [128040832, 128040968], [128134027, 128135076], [128150620, 128151079], [128176174, 128176319]]
Promoter
Chrom Start End Description
chr6 128134176 128134183 CAGE_peak_10_at_THEMIS_5end
chr6 128134199 128134253 CAGE_peak_3_at_THEMIS_5end
chr6 128222186 128222217 CAGE_peak_1_at_THEMIS_5end
chr6 128222238 128222249 CAGE_peak_5_at_THEMIS_5end
chr6 128239704 128239722 CAGE_peak_4_at_THEMIS_5end
chr6 128239732 128239745 CAGE_peak_2_at_THEMIS_5end
chr6 128239749 128239760 CAGE_peak_6_at_THEMIS_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I127914 127914838 127915729 0.2 [{'connected_gene': 'THEMIS', 'score': 0.77}, {'connected_gene': 'MRPS17P5', 'score': 0.44}]
chr6 GH06I127898 127898520 127902351 1.21 [{'connected_gene': 'THEMIS', 'score': 550.37}, {'connected_gene': 'GC06M127888', 'score': 0.44}, {'connected_gene': 'MRPS17P5', 'score': 0.44}]
chr6 GH06I127857 127857007 127858301 0.4 [{'connected_gene': 'THEMIS', 'score': 5.85}, {'connected_gene': 'GC06M127888', 'score': 0.29}, {'connected_gene': 'LINC02536', 'score': 0.08}]
chr6 GH06I127737 127737076 127737305 0.8 [{'connected_gene': 'THEMIS', 'score': 4.23}, {'connected_gene': 'LINC02536', 'score': 0.19}, {'connected_gene': 'GC06M127888', 'score': 0.1}]
chr6 GH06I127759 127759139 127759535 0.22 [{'connected_gene': 'THEMIS', 'score': 1.88}, {'connected_gene': 'LINC02536', 'score': 0.15}, {'connected_gene': 'GC06M127888', 'score': 0.12}]
chr6 GH06I127866 127866965 127867548 0.2 [{'connected_gene': 'THEMIS', 'score': 5.65}, {'connected_gene': 'GC06M127888', 'score': 0.34}, {'connected_gene': 'LINC02536', 'score': 0.08}]
chr6 GH06I127855 127855696 127855845 0.69 [{'connected_gene': 'THEMIS', 'score': 5.82}, {'connected_gene': 'GC06M127888', 'score': 0.28}, {'connected_gene': 'LINC02536', 'score': 0.08}]
chr6 GH06I127862 127862443 127862502 0.5 [{'connected_gene': 'THEMIS', 'score': 550.22}, {'connected_gene': 'GC06M127888', 'score': 0.31}, {'connected_gene': 'LINC02536', 'score': 0.08}]
chr6 GH06I127864 127864609 127865718 0.38 [{'connected_gene': 'THEMIS', 'score': 6.06}, {'connected_gene': 'GC06M127888', 'score': 0.31}, {'connected_gene': 'LINC02536', 'score': 0.08}]
chr6 GH06I127933 127933861 127935682 0.66 [{'connected_gene': 'THEMIS', 'score': 7.56}, {'connected_gene': 'LOC101928140', 'score': 4.34}, {'connected_gene': 'GC06P127982', 'score': 0.25}]
chr6 GH06I127938 127938341 127940001 1.11 [{'connected_gene': 'THEMIS', 'score': 0.34}, {'connected_gene': 'GC06P127982', 'score': 0.26}]
chr6 GH06I127921 127921827 127922539 0.2 [{'connected_gene': 'THEMIS', 'score': 0.77}, {'connected_gene': 'GC06P127982', 'score': 0.22}]
chr6 GH06I127918 127918369 127919549 0.9 [{'connected_gene': 'THEMIS', 'score': 550.77}, {'connected_gene': 'GC06P127982', 'score': 0.21}]
chr6 GH06I127922 127922584 127923742 0.2 [{'connected_gene': 'THEMIS', 'score': 0.77}, {'connected_gene': 'GC06P127982', 'score': 0.22}]
chr6 GH06I127906 127906066 127910194 0.59 [{'connected_gene': 'MRPS17P5', 'score': 550.77}, {'connected_gene': 'THEMIS', 'score': 0.39}, {'connected_gene': 'GC06M127888', 'score': 0.37}]
chr6 GH06I127903 127903673 127904667 0.2 [{'connected_gene': 'MRPS17P5', 'score': 0.44}, {'connected_gene': 'THEMIS', 'score': 0.39}, {'connected_gene': 'GC06M127888', 'score': 0.39}]
chr6 GH06I127970 127970860 127974261 1.05 [{'connected_gene': 'LOC101928140', 'score': 11.14}, {'connected_gene': 'GC06P127982', 'score': 0.44}, {'connected_gene': 'THEMIS', 'score': 0.23}, {'connected_gene': 'PTPRK', 'score': 0.03}]
chr6 GH06I127967 127967432 127970538 0.2 [{'connected_gene': 'LOC101928140', 'score': 11.14}, {'connected_gene': 'GC06P127982', 'score': 0.39}, {'connected_gene': 'THEMIS', 'score': 0.23}, {'connected_gene': 'PTPRK', 'score': 0.03}]
chr6 GH06I127869 127869870 127870403 0.31 [{'connected_gene': 'LOC101928140', 'score': 9.85}, {'connected_gene': 'GC06M127888', 'score': 0.34}, {'connected_gene': 'THEMIS', 'score': 0.25}, {'connected_gene': 'LINC02536', 'score': 0.08}]
chr6 GH06I127952 127952721 127953445 0.2 [{'connected_gene': 'LOC101928140', 'score': 10.76}, {'connected_gene': 'GC06P127982', 'score': 0.31}, {'connected_gene': 'THEMIS', 'score': 0.29}]
chr6 GH06I127953 127953598 127955417 0.38 [{'connected_gene': 'LOC101928140', 'score': 10.76}, {'connected_gene': 'GC06P127982', 'score': 0.31}, {'connected_gene': 'THEMIS', 'score': 0.28}]
chr6 GH06I127944 127944997 127946750 0.46 [{'connected_gene': 'LOC101928140', 'score': 10.44}, {'connected_gene': 'THEMIS', 'score': 0.31}, {'connected_gene': 'GC06P127982', 'score': 0.29}]
chr6 GH06I127950 127950504 127952491 0.86 [{'connected_gene': 'LOC101928140', 'score': 10.75}, {'connected_gene': 'GC06P127982', 'score': 0.31}, {'connected_gene': 'THEMIS', 'score': 0.29}]
chr6 GH06I127880 127880596 127880745 0.4 [{'connected_gene': 'GC06M127888', 'score': 0.39}, {'connected_gene': 'THEMIS', 'score': 0.28}, {'connected_gene': 'LINC02536', 'score': 0.08}]
chr6 GH06I127879 127879601 127880000 0.89 [{'connected_gene': 'GC06M127888', 'score': 0.39}, {'connected_gene': 'THEMIS', 'score': 0.28}, {'connected_gene': 'LINC02536', 'score': 0.08}]
chr6 GH06I127875 127875973 127876873 0.2 [{'connected_gene': 'GC06M127888', 'score': 0.39}, {'connected_gene': 'THEMIS', 'score': 0.26}, {'connected_gene': 'LINC02536', 'score': 0.08}]
chr6 GH06I127885 127885885 127887127 0.2 [{'connected_gene': 'GC06M127888', 'score': 0.77}, {'connected_gene': 'THEMIS', 'score': 0.29}, {'connected_gene': 'LINC02536', 'score': 0.07}]
chr6 GH06I127860 127860005 127860954 0.2 [{'connected_gene': 'GC06M127888', 'score': 0.29}, {'connected_gene': 'THEMIS', 'score': 0.22}, {'connected_gene': 'LINC02536', 'score': 0.08}]
chr6 GH06I127883 127883394 127885125 0.2 [{'connected_gene': 'GC06M127888', 'score': 0.44}, {'connected_gene': 'THEMIS', 'score': 0.29}, {'connected_gene': 'LINC02536', 'score': 0.07}]
chr6 GH06I127893 127893601 127893800 0.4 [{'connected_gene': 'GC06M127888', 'score': 0.77}, {'connected_gene': 'MRPS17P5', 'score': 0.37}, {'connected_gene': 'THEMIS', 'score': 0.34}]
chr6 GH06I127895 127895824 127898404 0.2 [{'connected_gene': 'GC06M127888', 'score': 0.44}, {'connected_gene': 'MRPS17P5', 'score': 0.39}, {'connected_gene': 'THEMIS', 'score': 0.34}]
chr6 GH06I127896 127894986 127895736 0.2 [{'connected_gene': 'GC06M127888', 'score': 0.77}, {'connected_gene': 'MRPS17P5', 'score': 0.39}, {'connected_gene': 'THEMIS', 'score': 0.34}]
chr6 GH06I127894 127894340 127894974 0.2 [{'connected_gene': 'GC06M127888', 'score': 0.77}, {'connected_gene': 'MRPS17P5', 'score': 0.37}, {'connected_gene': 'THEMIS', 'score': 0.34}]