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
ENST00000331768 [[99864082, 99865462], [99866435, 99866596], [99870561, 99870647], [99871541, 99871708], [99872852, 99872927], [99879287, 99879402], [99880212, 99880271], [99924615, 99924872], [99925449, 99925522], [99927528, 99927677], [99929822, 99929915], [99932039, 99932150], [99947064, 99947216]] [[99865015, 99865462], [99866435, 99866596], [99870561, 99870647], [99871541, 99871708], [99872852, 99872927], [99879287, 99879402], [99880212, 99880271], [99924615, 99924872], [99925449, 99925522], [99927528, 99927677], [99929822, 99929915], [99932039, 99932142]]
ENST00000446066 [[99864805, 99865462], [99866435, 99866596], [99870561, 99870647], [99871541, 99871708], [99872852, 99872927], [99924615, 99924872], [99925449, 99925522], [99929822, 99929915], [99932039, 99932150], [99947064, 99947138]] [[99925472, 99925522], [99929822, 99929915], [99932039, 99932142]]
ENST00000489770 [[99865068, 99865462], [99866435, 99866596], [99879287, 99879587]] None
ENST00000453764 [[99871651, 99871708], [99872852, 99872927], [99879287, 99879402], [99880212, 99880271], [99924615, 99924872], [99925449, 99925522], [99929822, 99929915], [99932039, 99932150], [99947064, 99947197]] [[99925472, 99925522], [99929822, 99929915], [99932039, 99932142]]
ENST00000329331 [[99876140, 99876552], [99879287, 99879402], [99880212, 99880271], [99924615, 99924872], [99925449, 99925522], [99927528, 99927677], [99929822, 99929915], [99932039, 99932150], [99947064, 99947125]] [[99876510, 99876552], [99879287, 99879402], [99880212, 99880271], [99924615, 99924872], [99925449, 99925522], [99927528, 99927677], [99929822, 99929915], [99932039, 99932142]]
ENST00000436070 [[99877615, 99879402], [99880212, 99880271], [99924615, 99924872], [99925449, 99925522], [99927528, 99927677], [99929822, 99929915], [99932039, 99932150], [99947064, 99947127]] [[99879257, 99879402], [99880212, 99880271], [99924615, 99924872], [99925449, 99925522], [99927528, 99927677], [99929822, 99929915], [99932039, 99932142]]
ENST00000357563 [[99877914, 99879402], [99880212, 99880271], [99924615, 99924872], [99925449, 99925522], [99929822, 99929915], [99932039, 99932150], [99947064, 99947174]] [[99925472, 99925522], [99929822, 99929915], [99932039, 99932142]]
ENST00000453938 [[99924635, 99924872], [99925449, 99925522], [99929822, 99929915], [99932039, 99932150], [99945075, 99945106]] None
NM_032233 [[99864082, 99865462], [99866435, 99866596], [99870561, 99870647], [99871541, 99871708], [99872852, 99872927], [99879287, 99879402], [99880212, 99880271], [99924615, 99924872], [99925449, 99925522], [99927528, 99927677], [99929822, 99929915], [99932039, 99932150], [99947064, 99947226]] [[99865015, 99865462], [99866435, 99866596], [99870561, 99870647], [99871541, 99871708], [99872852, 99872927], [99879287, 99879402], [99880212, 99880271], [99924615, 99924872], [99925449, 99925522], [99927528, 99927677], [99929822, 99929915], [99932039, 99932142]]
NM_199123 [[99876140, 99876552], [99879287, 99879402], [99880212, 99880271], [99924615, 99924872], [99925449, 99925522], [99927528, 99927677], [99929822, 99929915], [99932039, 99932150], [99947064, 99947226]] [[99876510, 99876552], [99879287, 99879402], [99880212, 99880271], [99924615, 99924872], [99925449, 99925522], [99927528, 99927677], [99929822, 99929915], [99932039, 99932142]]
Promoter
Chrom Start End Description
chr14 99945118 99945134 CAGE_peak_7_at_SETD3_5end
chr14 99947100 99947105 CAGE_peak_4_at_SETD3_5end
chr14 99947121 99947136 CAGE_peak_2_at_SETD3_5end
chr14 99947142 99947156 CAGE_peak_3_at_SETD3_5end
chr14 99947158 99947161 CAGE_peak_5_at_SETD3_5end
chr14 99947168 99947232 CAGE_peak_1_at_SETD3_5end
chr14 99947613 99947617 CAGE_peak_8_at_SETD3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I099462 99462391 99462493 0.2 [{'connected_gene': 'CCNK', 'score': 0.37}, {'connected_gene': 'SETD3', 'score': 0.37}, {'connected_gene': 'RNU6-91P', 'score': 0.37}]
chr14 GH14I099467 99467524 99467673 0.43 [{'connected_gene': 'CCNK', 'score': 0.39}, {'connected_gene': 'SETD3', 'score': 0.39}, {'connected_gene': 'RNU6-91P', 'score': 0.34}]
chr14 GH14I099477 99475784 99475933 0.63 [{'connected_gene': 'CCNK', 'score': 0.44}, {'connected_gene': 'SETD3', 'score': 0.44}, {'connected_gene': 'RNU6-91P', 'score': 0.29}]
chr14 GH14I099459 99459838 99461613 0.66 [{'connected_gene': 'CCNK', 'score': 11.39}, {'connected_gene': 'SETD3', 'score': 11.39}, {'connected_gene': 'RNU6-91P', 'score': 0.37}]
chr14 GH14I099476 99476872 99477599 0.38 [{'connected_gene': 'CCNK', 'score': 0.77}, {'connected_gene': 'SETD3', 'score': 0.77}, {'connected_gene': 'RNU6-91P', 'score': 0.29}]
chr14 GH14I099479 99478002 99478798 0.46 [{'connected_gene': 'CCNK', 'score': 0.77}, {'connected_gene': 'SETD3', 'score': 0.77}, {'connected_gene': 'RNU6-91P', 'score': 0.29}]
chr14 GH14I099478 99478910 99482782 2.06 [{'connected_gene': 'CCNK', 'score': 575.05}, {'connected_gene': 'SETD3', 'score': 556.94}, {'connected_gene': 'RNU6-91P', 'score': 0.28}]
chr14 GH14I099427 99427784 99427953 0.2 [{'connected_gene': 'CCNK', 'score': 10.64}, {'connected_gene': 'SETD3', 'score': 10.64}, {'connected_gene': 'GC14P099446', 'score': 0.37}, {'connected_gene': 'ENSG00000258383', 'score': 0.15}]
chr14 GH14I099394 99394369 99395318 0.2 [{'connected_gene': 'CCNK', 'score': 5.51}, {'connected_gene': 'SETD3', 'score': 5.36}, {'connected_gene': 'GC14P099446', 'score': 0.25}, {'connected_gene': 'ENSG00000258383', 'score': 0.21}]
chr14 GH14I099415 99415600 99416001 0.88 [{'connected_gene': 'CCNK', 'score': 10.17}, {'connected_gene': 'SETD3', 'score': 10.17}, {'connected_gene': 'GC14P099446', 'score': 0.31}, {'connected_gene': 'ENSG00000258383', 'score': 0.18}]
chr14 GH14I099411 99411724 99413949 0.6 [{'connected_gene': 'CCNK', 'score': 14.82}, {'connected_gene': 'SETD3', 'score': 9.99}, {'connected_gene': 'GC14P099446', 'score': 0.29}, {'connected_gene': 'ENSG00000258383', 'score': 0.18}]
chr14 GH14I099430 99430584 99430713 0.54 [{'connected_gene': 'CCNK', 'score': 10.48}, {'connected_gene': 'SETD3', 'score': 10.48}, {'connected_gene': 'GC14P099446', 'score': 0.39}, {'connected_gene': 'ENSG00000258383', 'score': 0.15}]
chr14 GH14I099484 99484466 99484525 0.61 [{'connected_gene': 'CCNK', 'score': 550.77}, {'connected_gene': 'SETD3', 'score': 0.77}, {'connected_gene': 'GC14M099501', 'score': 0.37}]
chr14 GH14I099225 99225561 99237000 1.92 [{'connected_gene': 'CCNK', 'score': 24.24}, {'connected_gene': 'BCL11B', 'score': 12.6}, {'connected_gene': 'ENSG00000234648', 'score': 12.2}, {'connected_gene': 'RPL3P4', 'score': 10.96}, {'connected_gene': 'SETD3', 'score': 4.44}, {'connected_gene': 'GC14M099236', 'score': 0.44}, {'connected_gene': 'GC14M099237', 'score': 0.44}, {'connected_gene': 'GC14P099215', 'score': 0.37}]
chr14 GH14I099468 99468487 99470200 0.63 [{'connected_gene': 'SETD3', 'score': 6.43}, {'connected_gene': 'CCNK', 'score': 5.36}, {'connected_gene': 'RNU6-91P', 'score': 0.31}]
chr14 GH14I099475 99475083 99475749 1.39 [{'connected_gene': 'SETD3', 'score': 550.44}, {'connected_gene': 'CCNK', 'score': 0.44}, {'connected_gene': 'RNU6-91P', 'score': 0.29}]
chr14 GH14I099401 99401171 99401909 0.31 [{'connected_gene': 'SETD3', 'score': 15.49}, {'connected_gene': 'CCNK', 'score': 10.08}, {'connected_gene': 'GC14P099446', 'score': 0.26}, {'connected_gene': 'ENSG00000258383', 'score': 0.2}]
chr14 GH14I099435 99435818 99438147 0.66 [{'connected_gene': 'SETD3', 'score': 16.45}, {'connected_gene': 'CCNK', 'score': 15.64}, {'connected_gene': 'GC14P099446', 'score': 0.44}, {'connected_gene': 'ENSG00000258383', 'score': 0.15}]
chr14 GH14I099217 99217301 99219395 1.08 [{'connected_gene': 'SETD3', 'score': 4.87}, {'connected_gene': 'GC14P099215', 'score': 0.77}, {'connected_gene': 'GC14M099236', 'score': 0.37}, {'connected_gene': 'GC14M099237', 'score': 0.37}, {'connected_gene': 'BCL11B', 'score': 0.23}]
chr14 GH14I099206 99206788 99214669 0.57 [{'connected_gene': 'SETD3', 'score': 4.94}, {'connected_gene': 'DEGS2', 'score': 4.42}, {'connected_gene': 'GC14P099215', 'score': 0.77}, {'connected_gene': 'GC14M099192', 'score': 0.37}, {'connected_gene': 'GC14M099194', 'score': 0.37}, {'connected_gene': 'BCL11B', 'score': 0.21}]
chr14 GH14I099422 99422357 99423482 0.52 [{'connected_gene': 'SETD3', 'score': 6.17}, {'connected_gene': 'GC14P099446', 'score': 0.34}, {'connected_gene': 'ENSG00000258383', 'score': 0.16}]
chr14 GH14I099560 99560023 99577989 2.14 [{'connected_gene': 'CCDC85C', 'score': 23.67}, {'connected_gene': 'CCNK', 'score': 14.59}, {'connected_gene': 'ENSG00000234648', 'score': 12.81}, {'connected_gene': 'ENSG00000247970', 'score': 12.0}, {'connected_gene': 'HHIPL1', 'score': 11.22}, {'connected_gene': 'RPL3P4', 'score': 11.18}, {'connected_gene': 'EML1', 'score': 10.12}, {'connected_gene': 'SETD3', 'score': 1.64}, {'connected_gene': 'GC14P099584', 'score': 0.39}, {'connected_gene': 'GC14M099518', 'score': 0.29}]
chr14 GH14I099469 99468153 99468171 0.26 [{'connected_gene': 'EML1', 'score': 1.44}, {'connected_gene': 'CCNK', 'score': 0.39}, {'connected_gene': 'SETD3', 'score': 0.39}, {'connected_gene': 'RNU6-91P', 'score': 0.34}]
chr14 GH14I099502 99502357 99504315 0.58 [{'connected_gene': 'GC14M099501', 'score': 550.77}, {'connected_gene': 'CCNK', 'score': 11.29}, {'connected_gene': 'SETD3', 'score': 11.29}, {'connected_gene': 'ENSG00000247970', 'score': 10.61}, {'connected_gene': 'CCDC85C', 'score': 10.61}, {'connected_gene': 'ENSG00000258749', 'score': 0.44}]
chr14 GH14I099516 99516394 99517309 0.46 [{'connected_gene': 'PIR34457', 'score': 550.77}, {'connected_gene': 'SETD3', 'score': 5.57}, {'connected_gene': 'LOC105370661', 'score': 0.37}, {'connected_gene': 'CCNK', 'score': 0.28}, {'connected_gene': 'CCDC85C', 'score': 0.17}]
chr14 GH14I099417 99417260 99417500 0.66 [{'connected_gene': 'GC14P099446', 'score': 0.31}, {'connected_gene': 'SETD3', 'score': 0.21}, {'connected_gene': 'ENSG00000258383', 'score': 0.17}]
chr14 GH14I099424 99424198 99425760 0.31 [{'connected_gene': 'GC14P099446', 'score': 0.37}, {'connected_gene': 'SETD3', 'score': 0.22}, {'connected_gene': 'ENSG00000258383', 'score': 0.16}]
chr14 GH14I099420 99420784 99421453 0.49 [{'connected_gene': 'GC14P099446', 'score': 0.34}, {'connected_gene': 'SETD3', 'score': 0.21}, {'connected_gene': 'ENSG00000258383', 'score': 0.17}]