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
ENST00000358409 [[3068495, 3068647], [3069113, 3069206], [3103903, 3104158], [3120169, 3120234], [3121335, 3121398], [3127710, 3127754], [3128280, 3128336], [3129799, 3129939], [3131009, 3131183], [3147133, 3147274], [3149272, 3149425], [3149530, 3149831]] [[3103932, 3104158], [3120169, 3120234], [3121335, 3121398], [3127710, 3127754], [3128280, 3128336], [3129799, 3129939], [3131009, 3131183], [3147133, 3147274], [3149272, 3149425], [3149530, 3149644]]
ENST00000359864 [[3068579, 3068647], [3069113, 3069206], [3103903, 3104158], [3120169, 3120234], [3121335, 3121398], [3126563, 3126692], [3127710, 3127754], [3128280, 3128336], [3129799, 3129939], [3131009, 3131183], [3147133, 3147274], [3149272, 3149425], [3149530, 3149839]] [[3103932, 3104158], [3120169, 3120234], [3121335, 3121398], [3126563, 3126692], [3127710, 3127754], [3128280, 3128336], [3129799, 3129939], [3131009, 3131183], [3147133, 3147274], [3149272, 3149425], [3149530, 3149644]]
ENST00000397122 [[3069082, 3069206], [3120169, 3120234], [3121335, 3121398], [3126563, 3126692], [3127710, 3127754], [3128280, 3128336], [3129799, 3129939], [3131009, 3131183], [3147133, 3147274], [3149272, 3149425], [3149530, 3149837]] [[3126596, 3126692], [3127710, 3127754], [3128280, 3128336], [3129799, 3129939], [3131009, 3131183], [3147133, 3147274], [3149272, 3149425], [3149530, 3149644]]
ENST00000540314 [[3068571, 3068647], [3069113, 3069519], [3103903, 3103999]] [[3103932, 3103999]]
ENST00000536826 [[3068572, 3068647], [3069113, 3069362], [3103903, 3104149]] [[3103932, 3104149]]
ENST00000543035 [[3068961, 3069206], [3103903, 3104158], [3120169, 3120234], [3121335, 3121398], [3126563, 3126692], [3127710, 3127754]] [[3103932, 3104158], [3120169, 3120234], [3121335, 3121398], [3126563, 3126692], [3127710, 3127754]]
ENST00000443986 [[3069109, 3069206], [3103903, 3104158], [3121335, 3121398], [3127710, 3127754], [3128280, 3128336], [3129799, 3129925]] [[3103932, 3104158], [3121335, 3121398], [3127710, 3127754]]
ENST00000544666 [[3120209, 3120234], [3121335, 3121398], [3126228, 3126261], [3126563, 3126692], [3127710, 3127754], [3128280, 3128336], [3129799, 3129939], [3131009, 3131086]] [[3120209, 3120234], [3121335, 3121398], [3126228, 3126261], [3126563, 3126692], [3127710, 3127754], [3128280, 3128336], [3129799, 3129939], [3131009, 3131086]]
NM_201441 [[3068477, 3068647], [3069113, 3069206], [3103903, 3104158], [3120169, 3120234], [3121335, 3121398], [3127710, 3127754], [3128280, 3128336], [3129799, 3129939], [3131009, 3131183], [3147133, 3147274], [3149272, 3149425], [3149530, 3149842]] [[3103932, 3104158], [3120169, 3120234], [3121335, 3121398], [3127710, 3127754], [3128280, 3128336], [3129799, 3129939], [3131009, 3131183], [3147133, 3147274], [3149272, 3149425], [3149530, 3149644]]
NM_003213 [[3068477, 3068647], [3069113, 3069206], [3103903, 3104158], [3120169, 3120234], [3121335, 3121398], [3126563, 3126692], [3127710, 3127754], [3128280, 3128336], [3129799, 3129939], [3131009, 3131183], [3147133, 3147274], [3149272, 3149425], [3149530, 3149842]] [[3103932, 3104158], [3120169, 3120234], [3121335, 3121398], [3126563, 3126692], [3127710, 3127754], [3128280, 3128336], [3129799, 3129939], [3131009, 3131183], [3147133, 3147274], [3149272, 3149425], [3149530, 3149644]]
NM_201443 [[3068747, 3069206], [3120169, 3120234], [3121335, 3121398], [3126563, 3126692], [3127710, 3127754], [3128280, 3128336], [3129799, 3129939], [3131009, 3131183], [3147133, 3147274], [3149272, 3149425], [3149530, 3149842]] [[3126596, 3126692], [3127710, 3127754], [3128280, 3128336], [3129799, 3129939], [3131009, 3131183], [3147133, 3147274], [3149272, 3149425], [3149530, 3149644]]
Promoter
Chrom Start End Description
chr12 3068196 3068232 CAGE_peak_9_at_TEAD4_5end
chr12 3068466 3068495 CAGE_peak_3_at_TEAD4_5end
chr12 3068501 3068515 CAGE_peak_4_at_TEAD4_5end
chr12 3068544 3068597 CAGE_peak_1_at_TEAD4_5end
chr12 3068634 3068656 CAGE_peak_5_at_TEAD4_5end
chr12 3068668 3068689 CAGE_peak_7_at_TEAD4_5end
chr12 3068709 3068717 CAGE_peak_14_at_TEAD4_5end
chr12 3068942 3068953 CAGE_peak_13_at_TEAD4_5end
chr12 3068957 3068978 CAGE_peak_6_at_TEAD4_5end
chr12 3068979 3068993 CAGE_peak_11_at_TEAD4_5end
chr12 3069037 3069119 CAGE_peak_2_at_TEAD4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I002980 2980889 2983744 0.66 [{'connected_gene': 'NRIP2', 'score': 10.46}, {'connected_gene': 'FOXM1', 'score': 10.07}, {'connected_gene': 'RHNO1', 'score': 10.07}, {'connected_gene': 'TULP3', 'score': 10.07}, {'connected_gene': 'ITFG2', 'score': 10.03}, {'connected_gene': 'ENSG00000250899', 'score': 7.41}, {'connected_gene': 'TEAD4', 'score': 6.99}, {'connected_gene': 'GC12P002971', 'score': 0.39}, {'connected_gene': 'GC12M003040', 'score': 0.22}]
chr12 GH12I002979 2979562 2980363 0.2 [{'connected_gene': 'NRIP2', 'score': 10.46}, {'connected_gene': 'FOXM1', 'score': 9.75}, {'connected_gene': 'RHNO1', 'score': 9.75}, {'connected_gene': 'TULP3', 'score': 9.75}, {'connected_gene': 'ITFG2', 'score': 9.17}, {'connected_gene': 'TEAD4', 'score': 6.78}, {'connected_gene': 'ENSG00000250899', 'score': 6.67}, {'connected_gene': 'GC12P002971', 'score': 0.39}, {'connected_gene': 'GC12M003040', 'score': 0.21}]
chr12 GH12I002962 2962467 2965305 1.27 [{'connected_gene': 'TULP3', 'score': 6.31}, {'connected_gene': 'RHNO1', 'score': 5.27}, {'connected_gene': 'TEAD4', 'score': 0.77}, {'connected_gene': 'GC12P002971', 'score': 0.44}]
chr12 GH12I002957 2957959 2962091 2.2 [{'connected_gene': 'TEAD4', 'score': 550.77}, {'connected_gene': 'ITFG2', 'score': 22.4}, {'connected_gene': 'DCP1B', 'score': 20.05}, {'connected_gene': 'TULP3', 'score': 7.14}, {'connected_gene': 'GC12P002971', 'score': 0.44}]
chr12 GH12I003001 3001961 3005372 0.69 [{'connected_gene': 'TEAD4', 'score': 11.53}, {'connected_gene': 'RNU6-1315P', 'score': 11.51}, {'connected_gene': 'NRIP2', 'score': 10.8}, {'connected_gene': 'ITFG2', 'score': 10.62}, {'connected_gene': 'GC12P002971', 'score': 0.29}, {'connected_gene': 'GC12M003040', 'score': 0.28}]
chr12 GH12I002990 2990299 2993855 0.31 [{'connected_gene': 'TEAD4', 'score': 12.02}, {'connected_gene': 'RNU6-1315P', 'score': 12.0}, {'connected_gene': 'NRIP2', 'score': 10.95}, {'connected_gene': 'TSPAN9', 'score': 10.41}, {'connected_gene': 'TULP3', 'score': 10.04}, {'connected_gene': 'FOXM1', 'score': 10.04}, {'connected_gene': 'RHNO1', 'score': 10.03}, {'connected_gene': 'ITFG2', 'score': 9.72}, {'connected_gene': 'GC12P002971', 'score': 0.34}, {'connected_gene': 'GC12M003040', 'score': 0.25}]
chr12 GH12I002997 2997860 3001136 1.52 [{'connected_gene': 'TEAD4', 'score': 16.18}, {'connected_gene': 'RNU6-1315P', 'score': 11.51}, {'connected_gene': 'ITFG2', 'score': 10.62}, {'connected_gene': 'GC12P002971', 'score': 0.31}, {'connected_gene': 'GC12M003040', 'score': 0.26}]
chr12 GH12I003021 3021713 3023393 0.46 [{'connected_gene': 'ITFG2', 'score': 10.06}, {'connected_gene': 'FKBP4', 'score': 9.66}, {'connected_gene': 'GC12M003040', 'score': 0.37}, {'connected_gene': 'GC12P002971', 'score': 0.23}, {'connected_gene': 'TEAD4', 'score': 0.21}]
chr12 GH12I003030 3030333 3034844 1.08 [{'connected_gene': 'TSPAN9', 'score': 11.5}, {'connected_gene': 'NRIP2', 'score': 11.34}, {'connected_gene': 'TULP3', 'score': 10.57}, {'connected_gene': 'FOXM1', 'score': 10.57}, {'connected_gene': 'RHNO1', 'score': 10.57}, {'connected_gene': 'ITFG2', 'score': 10.08}, {'connected_gene': 'FKBP4', 'score': 10.07}, {'connected_gene': 'GC12M003040', 'score': 0.44}, {'connected_gene': 'GC12P002971', 'score': 0.21}, {'connected_gene': 'TEAD4', 'score': 0.19}]
chr12 GH12I002974 2974209 2975261 0.89 [{'connected_gene': 'ENSG00000250899', 'score': 6.39}, {'connected_gene': 'TEAD4', 'score': 6.35}, {'connected_gene': 'GC12P002971', 'score': 0.44}, {'connected_gene': 'GC12M003040', 'score': 0.2}]
chr12 GH12I002976 2976715 2977004 0.74 [{'connected_gene': 'GC12P002971', 'score': 0.44}, {'connected_gene': 'TEAD4', 'score': 0.37}, {'connected_gene': 'GC12M003040', 'score': 0.21}]
chr12 GH12I003012 3012745 3015202 0.89 [{'connected_gene': 'GC12M003040', 'score': 0.31}, {'connected_gene': 'GC12P002971', 'score': 0.26}, {'connected_gene': 'TEAD4', 'score': 0.23}]
chr12 GH12I002970 2970551 2971428 0.56 [{'connected_gene': 'GC12P002971', 'score': 550.77}, {'connected_gene': 'TEAD4', 'score': 0.39}, {'connected_gene': 'GC12M003040', 'score': 0.2}]