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
ENST00000536063 [[2985423, 2985681], [2997076, 2997334]] None
ENST00000538636 [[2986364, 2986448], [2994428, 2994700], [2997076, 2997303]] [[2994532, 2994700], [2997076, 2997303]]
ENST00000461997 [[2986364, 2986448], [2994448, 2994658], [2997076, 2998437]] [[2994532, 2994658], [2997076, 2997625]]
ENST00000464682 [[2986373, 2986448], [2997076, 2998606]] None
ENST00000489288 [[2986380, 2986448], [2994448, 2994700], [2997076, 2998626]] [[2994532, 2994700], [2997076, 2997625]]
ENST00000366285 [[2986388, 2986448], [2987098, 2987279], [2994448, 2994700], [2997076, 2997100]] [[2994532, 2994700], [2997076, 2997100]]
ENST00000535978 [[2986388, 2986448], [2994448, 2994700], [2996143, 2996277], [2997076, 2997173]] [[2994532, 2994700], [2996143, 2996155]]
ENST00000538700 [[2986388, 2986448], [2994327, 2994700], [2997076, 2997223]] [[2994532, 2994700], [2997076, 2997223]]
NR_046433 [[2985423, 2985681], [2997076, 2998691]] None
NR_027365 [[2986364, 2986448], [2997076, 2998691]] None
NM_001252500 [[2986364, 2986448], [2994448, 2994658], [2997076, 2998691]] [[2994532, 2994658], [2997076, 2997625]]
NM_001252499 [[2986364, 2986448], [2994448, 2994700], [2997076, 2998691]] [[2994532, 2994700], [2997076, 2997625]]
NR_046432 [[2986364, 2986448], [2994448, 2994700], [2996143, 2996277], [2997076, 2998691]] None
NM_001257098 [[2986364, 2986448], [2994428, 2994700], [2997076, 2998691]] [[2994532, 2994700], [2997076, 2997625]]
NM_001257097 [[2986364, 2986448], [2994327, 2994700], [2997076, 2998691]] [[2994532, 2994700], [2997076, 2997625]]
Promoter
Chrom Start End Description
chr12 2986359 2986421 CAGE_peak_1_at_C12orf32_5end,CAGE_peak_1_at_TULP3_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 GH12I002854 2854577 2855746 0.43 [{'connected_gene': 'RHNO1', 'score': 9.32}, {'connected_gene': 'TEX52', 'score': 0.77}, {'connected_gene': 'GC12P002844', 'score': 0.39}, {'connected_gene': 'ITFG2', 'score': 0.26}]
chr12 GH12I002889 2889587 2893744 2.25 [{'connected_gene': 'TULP3', 'score': 588.96}, {'connected_gene': 'RHNO1', 'score': 23.55}, {'connected_gene': 'NRIP2', 'score': 11.93}, {'connected_gene': 'ITFG2', 'score': 10.77}, {'connected_gene': 'DCP1B', 'score': 10.73}, {'connected_gene': 'PIR60635', 'score': 0.77}, {'connected_gene': 'GC12M002940', 'score': 0.25}]
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 GH12I002876 2876014 2879331 2.03 [{'connected_gene': 'TULP3', 'score': 591.91}, {'connected_gene': 'RHNO1', 'score': 574.57}, {'connected_gene': 'FOXM1', 'score': 550.77}, {'connected_gene': 'ITFG2', 'score': 64.04}, {'connected_gene': 'DCP1B', 'score': 29.18}, {'connected_gene': 'CBX3P4', 'score': 28.2}, {'connected_gene': 'ITFG2-AS1', 'score': 13.03}, {'connected_gene': 'NRIP2', 'score': 10.72}, {'connected_gene': 'RPS27P3', 'score': 10.71}, {'connected_gene': 'IQSEC3P1', 'score': 10.6}, {'connected_gene': 'FKBP4', 'score': 10.03}, {'connected_gene': 'GC12M002869', 'score': 0.77}]
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 GH12I002824 2824695 2827253 0.38 [{'connected_gene': 'FKBP4', 'score': 11.45}, {'connected_gene': 'CBX3P4', 'score': 11.21}, {'connected_gene': 'FOXM1', 'score': 10.79}, {'connected_gene': 'RHNO1', 'score': 10.79}, {'connected_gene': 'TULP3', 'score': 10.79}, {'connected_gene': 'NRIP2', 'score': 6.37}, {'connected_gene': 'ENSG00000256150', 'score': 0.39}, {'connected_gene': 'ITFG2', 'score': 0.39}]
chr12 GH12I002868 2868052 2868204 0.38 [{'connected_gene': 'FOXM1', 'score': 0.44}, {'connected_gene': 'RHNO1', 'score': 0.44}, {'connected_gene': 'TEX52', 'score': 0.39}]
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 GH12I003054 3054802 3056651 0.56 [{'connected_gene': 'TSPAN9', 'score': 11.59}, {'connected_gene': 'NRIP2', 'score': 10.2}, {'connected_gene': 'FOXM1', 'score': 9.93}, {'connected_gene': 'RHNO1', 'score': 9.93}, {'connected_gene': 'TULP3', 'score': 9.93}, {'connected_gene': 'ITFG2', 'score': 9.42}, {'connected_gene': 'PIR51354', 'score': 0.39}, {'connected_gene': 'RPL13AP24', 'score': 0.37}]
chr12 GH12I003084 3084129 3087405 1.23 [{'connected_gene': 'TSPAN9', 'score': 23.94}, {'connected_gene': 'FOXM1', 'score': 9.42}, {'connected_gene': 'RHNO1', 'score': 9.42}, {'connected_gene': 'TULP3', 'score': 9.42}, {'connected_gene': 'PIR34599', 'score': 0.77}, {'connected_gene': 'GC12P003091', 'score': 0.77}]
chr12 GH12I003083 3083401 3084104 1.02 [{'connected_gene': 'TSPAN9', 'score': 23.99}, {'connected_gene': 'CBX3P4', 'score': 12.49}, {'connected_gene': 'FOXM1', 'score': 9.42}, {'connected_gene': 'RHNO1', 'score': 9.42}, {'connected_gene': 'TULP3', 'score': 9.42}, {'connected_gene': 'PIR34599', 'score': 0.44}, {'connected_gene': 'GC12P003091', 'score': 0.44}]
chr12 GH12I002856 2856724 2857422 0.46 [{'connected_gene': 'TEX52', 'score': 550.77}, {'connected_gene': 'RHNO1', 'score': 9.15}, {'connected_gene': 'GC12P002844', 'score': 0.39}, {'connected_gene': 'ITFG2', 'score': 0.26}]
chr12 GH12I002753 2753201 2753343 0.51 [{'connected_gene': 'IQSEC3P1', 'score': 555.53}, {'connected_gene': 'FKBP4', 'score': 10.33}, {'connected_gene': 'ITFG2', 'score': 10.3}, {'connected_gene': 'NRIP2', 'score': 9.86}, {'connected_gene': 'FOXM1', 'score': 8.97}, {'connected_gene': 'RHNO1', 'score': 8.97}, {'connected_gene': 'TULP3', 'score': 8.97}, {'connected_gene': 'ITFG2-AS1', 'score': 0.37}, {'connected_gene': 'ENSG00000256150', 'score': 0.22}]
chr12 GH12I002752 2752715 2752904 1 [{'connected_gene': 'IQSEC3P1', 'score': 550.77}, {'connected_gene': 'FKBP4', 'score': 10.33}, {'connected_gene': 'ITFG2', 'score': 10.3}, {'connected_gene': 'NRIP2', 'score': 9.86}, {'connected_gene': 'FOXM1', 'score': 8.97}, {'connected_gene': 'RHNO1', 'score': 8.97}, {'connected_gene': 'TULP3', 'score': 8.97}, {'connected_gene': 'LOC100422463', 'score': 0.39}, {'connected_gene': 'ENSG00000256150', 'score': 0.21}]
chr12 GH12I002885 2885158 2885984 0.8 [{'connected_gene': 'ENSG00000278356', 'score': 550.77}, {'connected_gene': 'RHNO1', 'score': 24.01}, {'connected_gene': 'NRIP2', 'score': 10.69}, {'connected_gene': 'ITFG2', 'score': 10.23}, {'connected_gene': 'FKBP4', 'score': 10.01}, {'connected_gene': 'GC12P002880', 'score': 0.77}, {'connected_gene': 'TULP3', 'score': 0.44}]
chr12 GH12I003088 3088102 3089173 0.38 [{'connected_gene': 'PIR34599', 'score': 550.77}, {'connected_gene': 'GC12P003091', 'score': 550.77}, {'connected_gene': 'TSPAN9', 'score': 20.63}, {'connected_gene': 'FOXM1', 'score': 9.41}, {'connected_gene': 'RHNO1', 'score': 9.41}, {'connected_gene': 'TULP3', 'score': 9.41}]