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
ENST00000323541 [[867356, 867578], [869857, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [904705, 904859], [914522, 914682]] [[869857, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [904705, 904859], [914522, 914569]]
ENST00000454838 [[867859, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [903703, 903778], [904705, 904923]] [[869857, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [903703, 903778], [904705, 904816]]
ENST00000449825 [[867859, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [904705, 904859], [914744, 915058]] [[869857, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [904705, 904816]]
ENST00000532909 [[868394, 868671], [869213, 869345], [869857, 869956], [870120, 870163], [870418, 870486]] [[869857, 869956], [870120, 870163], [870418, 870486]]
ENST00000529539 [[868394, 868671], [869857, 869956], [870120, 870163], [870418, 870499], [883147, 883249]] [[869857, 869956], [870120, 870163], [870418, 870499], [883147, 883249]]
ENST00000323578 [[868395, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [904705, 904859], [910774, 911461]] [[869857, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [904705, 904816]]
ENST00000534207 [[868398, 868671], [869213, 869956], [870120, 870163], [870418, 870499], [883147, 883178]] [[869857, 869956], [870120, 870163], [870418, 870499], [883147, 883178]]
ENST00000429789 [[869761, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [904705, 904859], [910774, 910835]] [[869857, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [904705, 904816]]
ENST00000336845 [[869762, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [903703, 903778], [904705, 904859], [908541, 908645], [910774, 910808]] [[869857, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [903703, 903778], [904705, 904816]]
ENST00000528581 [[869762, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [903703, 903778], [904705, 904859], [910774, 910810]] [[869857, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [903703, 903778], [904705, 904816]]
ENST00000436108 [[869766, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [904705, 904859], [908541, 908645], [910774, 910831]] [[869857, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [904705, 904816]]
ENST00000524538 [[869779, 869956], [870120, 870163], [870418, 870751]] None
ENST00000528521 [[870121, 870163], [870418, 870499], [883199, 883303], [884067, 884163]] [[870482, 870499], [883199, 883303], [884067, 884163]]
ENST00000526714 [[870418, 870489], [883147, 883303], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [904705, 904864]] None
ENST00000528534 [[874721, 874910], [883147, 883279]] None
ENST00000524832 [[882327, 882515], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902322]] None
ENST00000531010 [[882979, 883303], [884067, 884151]] None
ENST00000531859 [[883145, 883303], [884067, 884169], [893426, 893473], [902225, 902330], [902961, 903111], [904705, 904859], [908541, 908659]] [[883145, 883303], [884067, 884169], [893426, 893473], [902225, 902330], [902961, 903111], [904705, 904816]]
ENST00000534254 [[884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902147, 902330], [902961, 903111], [904705, 904859], [908541, 908664]] [[900935, 900980], [902147, 902330], [902961, 903111], [904705, 904816]]
ENST00000528426 [[899352, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [903655, 903753], [904705, 904859], [908541, 908645], [910640, 910791]] [[903065, 903111], [903655, 903753], [904705, 904816]]
ENST00000533056 [[902196, 902330], [902961, 903111], [904705, 904859], [914744, 915058]] [[902196, 902330], [902961, 903111], [904705, 904816]]
ENST00000533059 [[902234, 902330], [902961, 903111], [904705, 904859], [908541, 908645], [914746, 914820]] [[902234, 902330], [902961, 903111], [904705, 904816]]
ENST00000530939 [[902244, 902330], [902961, 903111], [904705, 904859], [910640, 910821]] [[902244, 902330], [902961, 903111], [904705, 904816]]
ENST00000525225 [[902970, 903111], [904705, 904859], [908214, 908296], [908541, 908645], [910774, 910816]] [[902970, 903111], [904705, 904816]]
ENST00000525840 [[904700, 904859], [914522, 914801]] [[904700, 904816]]
ENST00000528154 [[904736, 904859], [914303, 914774]] [[904736, 904816]]
NM_001142674 [[867858, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [904705, 904859], [908541, 908645], [910774, 910874]] [[869857, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [904705, 904816]]
NM_001142676 [[867858, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [903703, 903778], [904705, 904859], [910774, 910874]] [[869857, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [903703, 903778], [904705, 904816]]
NM_023947 [[867858, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [904705, 904859], [910774, 910874]] [[869857, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [904705, 904816]]
NM_001142677 [[867858, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [904705, 904859], [910774, 910874]] [[869857, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [904705, 904816]]
NM_001142675 [[867858, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [904705, 904859], [914744, 915058]] [[869857, 869956], [870120, 870163], [870418, 870499], [883147, 883303], [884067, 884169], [893426, 893519], [899339, 899401], [900003, 900110], [900935, 900980], [902197, 902330], [902961, 903111], [904705, 904816]]
Promoter
Chrom Start End Description
chr11 910796 910847 CAGE_peak_1_at_CHID1_5end
chr11 914717 914721 CAGE_peak_14_at_CHID1_5end
chr11 914789 914805 CAGE_peak_7_at_CHID1_5end
chr11 914812 914866 CAGE_peak_3_at_CHID1_5end
chr11 914889 914901 CAGE_peak_13_at_CHID1_5end
chr11 915012 915016 CAGE_peak_4_at_CHID1_5end
chr11 915207 915220 CAGE_peak_5_at_CHID1_5end
chr11 915274 915282 CAGE_peak_12_at_CHID1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I000849 848841 851349 1.14 [{'connected_gene': 'CD151', 'score': 12.32}, {'connected_gene': 'CHID1', 'score': 5.05}, {'connected_gene': 'POLR2L', 'score': 4.89}, {'connected_gene': 'ENSG00000250397', 'score': 0.44}, {'connected_gene': 'TSPAN4', 'score': 0.44}]
chr11 GH11I000878 876261 876790 0.85 [{'connected_gene': 'CD151', 'score': 11.78}, {'connected_gene': 'GC11M000880', 'score': 0.77}, {'connected_gene': 'ENSG00000250397', 'score': 0.37}, {'connected_gene': 'CHID1', 'score': 0.28}]
chr11 GH11I000877 877781 877930 0.57 [{'connected_gene': 'CD151', 'score': 11.42}, {'connected_gene': 'GC11M000880', 'score': 0.77}, {'connected_gene': 'ENSG00000250397', 'score': 0.37}, {'connected_gene': 'CHID1', 'score': 0.28}]
chr11 GH11I000873 873270 874225 0.31 [{'connected_gene': 'CD151', 'score': 5.83}, {'connected_gene': 'GC11M000880', 'score': 0.44}, {'connected_gene': 'ENSG00000250397', 'score': 0.39}, {'connected_gene': 'CHID1', 'score': 0.26}]
chr11 GH11I000839 839992 847569 2.25 [{'connected_gene': 'TSPAN4', 'score': 574.81}, {'connected_gene': 'POLR2L', 'score': 556.07}, {'connected_gene': 'GC11M000841', 'score': 550.77}, {'connected_gene': 'CD151', 'score': 50.69}, {'connected_gene': 'SNORA52', 'score': 29.58}, {'connected_gene': 'RPLP2', 'score': 26.64}, {'connected_gene': 'TMEM80', 'score': 25.95}, {'connected_gene': 'PIDD1', 'score': 23.35}, {'connected_gene': 'RIC8A', 'score': 21.73}, {'connected_gene': 'BET1L', 'score': 15.48}, {'connected_gene': 'ENSG00000255237', 'score': 13.61}, {'connected_gene': 'B4GALNT4', 'score': 13.27}, {'connected_gene': 'PHRF1', 'score': 12.95}, {'connected_gene': 'BRSK2', 'score': 11.54}, {'connected_gene': 'GATD1', 'score': 11.33}, {'connected_gene': 'SLC25A22', 'score': 11.33}, {'connected_gene': 'AP2A2', 'score': 11.32}, {'connected_gene': 'CEND1', 'score': 11.31}, {'connected_gene': 'ENSG00000255158', 'score': 10.55}, {'connected_gene': 'DEAF1', 'score': 9.95}, {'connected_gene': 'CHID1', 'score': 5.18}, {'connected_gene': 'PIR52875', 'score': 0.77}, {'connected_gene': 'ENSG00000250397', 'score': 0.37}]
chr11 GH11I000904 904864 904923 0.5 [{'connected_gene': 'CHID1', 'score': 550.39}, {'connected_gene': 'AP2A2', 'score': 11.91}, {'connected_gene': 'PIDD1', 'score': 11.02}, {'connected_gene': 'RPLP2', 'score': 11.02}, {'connected_gene': 'SLC25A22', 'score': 11.01}, {'connected_gene': 'CEND1', 'score': 11.0}, {'connected_gene': 'CD151', 'score': 8.92}, {'connected_gene': 'GC11P000900', 'score': 0.77}]
chr11 GH11I000909 909607 912066 1.97 [{'connected_gene': 'CHID1', 'score': 560.34}, {'connected_gene': 'RNU6-1025P', 'score': 11.77}, {'connected_gene': 'KRTAP5-AS1', 'score': 4.96}, {'connected_gene': 'GC11P000900', 'score': 0.39}]
chr11 GH11I000914 914220 915674 1.77 [{'connected_gene': 'CHID1', 'score': 550.77}, {'connected_gene': 'GC11P000900', 'score': 0.39}]
chr11 GH11I000912 912601 912800 0.51 [{'connected_gene': 'CHID1', 'score': 0.77}, {'connected_gene': 'GC11P000900', 'score': 0.39}]
chr11 GH11I000861 861850 864921 0.93 [{'connected_gene': 'PIDD1', 'score': 15.82}, {'connected_gene': 'TMEM80', 'score': 15.48}, {'connected_gene': 'ENSG00000255142', 'score': 14.47}, {'connected_gene': 'PHRF1', 'score': 10.08}, {'connected_gene': 'ENSG00000255158', 'score': 9.72}, {'connected_gene': 'CD151', 'score': 8.99}, {'connected_gene': 'CHID1', 'score': 6.99}, {'connected_gene': 'ENSG00000250397', 'score': 0.77}, {'connected_gene': 'GC11M000880', 'score': 0.37}, {'connected_gene': 'TSPAN4', 'score': 0.34}]
chr11 GH11I000824 824121 830480 2.19 [{'connected_gene': 'CRACR2B', 'score': 559.51}, {'connected_gene': 'PIR51142', 'score': 550.77}, {'connected_gene': 'CD151', 'score': 41.24}, {'connected_gene': 'ENSG00000255108', 'score': 27.84}, {'connected_gene': 'RPLP2', 'score': 21.01}, {'connected_gene': 'LOC171391', 'score': 6.85}, {'connected_gene': 'CHID1', 'score': 4.87}, {'connected_gene': 'POLR2L', 'score': 4.69}, {'connected_gene': 'B4GALNT4', 'score': 4.26}, {'connected_gene': 'PNPLA2', 'score': 0.44}]
chr11 GH11I000922 922397 923530 0.66 [{'connected_gene': 'AP2A2', 'score': 550.77}, {'connected_gene': 'CHID1', 'score': 5.58}, {'connected_gene': 'POLR2L', 'score': 5.18}, {'connected_gene': 'PIR40639', 'score': 0.77}]
chr11 GH11I000890 890261 890410 0.31 [{'connected_gene': 'AP2A2', 'score': 11.79}, {'connected_gene': 'CHID1', 'score': 10.67}, {'connected_gene': 'GC11M000881', 'score': 0.44}, {'connected_gene': 'GC11P000900', 'score': 0.39}]
chr11 GH11I000894 894941 895050 0.31 [{'connected_gene': 'AP2A2', 'score': 11.92}, {'connected_gene': 'GC11P000900', 'score': 0.44}, {'connected_gene': 'GC11M000881', 'score': 0.39}, {'connected_gene': 'CHID1', 'score': 0.34}]
chr11 GH11I000898 898121 898350 0.49 [{'connected_gene': 'AP2A2', 'score': 11.92}, {'connected_gene': 'PIDD1', 'score': 11.03}, {'connected_gene': 'RPLP2', 'score': 11.03}, {'connected_gene': 'SLC25A22', 'score': 11.02}, {'connected_gene': 'CEND1', 'score': 11.01}, {'connected_gene': 'CD151', 'score': 9.96}, {'connected_gene': 'GC11P000900', 'score': 0.77}, {'connected_gene': 'GC11M000881', 'score': 0.37}, {'connected_gene': 'CHID1', 'score': 0.37}]
chr11 GH11I000857 857685 861084 1.12 [{'connected_gene': 'ENSG00000250397', 'score': 550.77}, {'connected_gene': 'CD151', 'score': 12.55}, {'connected_gene': 'CHID1', 'score': 6.16}, {'connected_gene': 'TMEM80', 'score': 4.45}, {'connected_gene': 'TSPAN4', 'score': 0.37}]
chr11 GH11I000919 919200 919601 1.35 [{'connected_gene': 'PIR40639', 'score': 550.77}, {'connected_gene': 'CHID1', 'score': 0.77}]
chr11 GH11I000876 876081 876230 0.87 [{'connected_gene': 'GC11M000880', 'score': 0.44}, {'connected_gene': 'ENSG00000250397', 'score': 0.37}, {'connected_gene': 'CHID1', 'score': 0.28}]
chr11 GH11I000654 654861 655777 1.04 [{'connected_gene': 'GC11P000654', 'score': 550.77}, {'connected_gene': 'TMEM80', 'score': 35.1}, {'connected_gene': 'CDHR5', 'score': 16.91}, {'connected_gene': 'EPS8L2', 'score': 12.64}, {'connected_gene': 'DEAF1', 'score': 12.6}, {'connected_gene': 'IRF7', 'score': 12.55}, {'connected_gene': 'TALDO1', 'score': 11.88}, {'connected_gene': 'ENSG00000255142', 'score': 11.65}, {'connected_gene': 'LOC171391', 'score': 11.65}, {'connected_gene': 'GATD1', 'score': 11.65}, {'connected_gene': 'CEND1', 'score': 11.1}, {'connected_gene': 'SLC25A22', 'score': 11.1}, {'connected_gene': 'PIDD1', 'score': 11.09}, {'connected_gene': 'RPLP2', 'score': 11.09}, {'connected_gene': 'PTDSS2', 'score': 5.18}, {'connected_gene': 'CHID1', 'score': 5.08}, {'connected_gene': 'SIRT3', 'score': 2.35}, {'connected_gene': 'NLRP6', 'score': 1.29}, {'connected_gene': 'GC11P000663', 'score': 0.44}]
chr11 GH11I000966 966423 967310 0.56 [{'connected_gene': 'GC11P000968', 'score': 550.77}, {'connected_gene': 'AP2A2', 'score': 12.45}, {'connected_gene': 'CHID1', 'score': 11.41}, {'connected_gene': 'POLR2L', 'score': 5.47}, {'connected_gene': 'CD151', 'score': 4.78}, {'connected_gene': 'RNU6-1025P', 'score': 0.37}]
chr11 GH11I000967 967692 969046 0.31 [{'connected_gene': 'GC11P000968', 'score': 550.77}, {'connected_gene': 'AP2A2', 'score': 18.66}, {'connected_gene': 'CHID1', 'score': 11.41}, {'connected_gene': 'LOC101927503', 'score': 6.83}, {'connected_gene': 'CEND1', 'score': 4.68}, {'connected_gene': 'SIGIRR', 'score': 4.55}, {'connected_gene': 'RNU6-1025P', 'score': 0.37}]
chr11 GH11I000969 969574 970933 0.31 [{'connected_gene': 'GC11P000968', 'score': 550.77}, {'connected_gene': 'AP2A2', 'score': 17.53}, {'connected_gene': 'RNU6-1025P', 'score': 13.3}, {'connected_gene': 'CHID1', 'score': 11.51}, {'connected_gene': 'LOC101927503', 'score': 6.83}, {'connected_gene': 'POLR2L', 'score': 6.54}, {'connected_gene': 'KRTAP5-AS1', 'score': 5.63}, {'connected_gene': 'GC11M000999', 'score': 0.28}]