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
ENST00000489171 [[45454854, 45455314], [45465612, 45467296], [45477968, 45478111], [45479469, 45479561], [45480260, 45480418], [45484721, 45484823], [45485117, 45485169], [45486395, 45486517], [45487352, 45487450], [45488716, 45490155]] None
ENST00000374417 [[45455218, 45455314], [45465612, 45465712], [45467220, 45467296], [45477968, 45478111], [45480260, 45480418], [45484721, 45484823], [45485117, 45485169], [45486395, 45486517], [45487352, 45487450], [45488716, 45490168]] [[45465650, 45465712], [45467220, 45467296], [45477968, 45478111], [45480260, 45480360]]
ENST00000334940 [[45455218, 45455314], [45465612, 45465712], [45477864, 45477886], [45477968, 45478111], [45479388, 45479561], [45480260, 45480418], [45484721, 45484823], [45485117, 45485169], [45486395, 45486517], [45487352, 45487450], [45488716, 45490168]] [[45465650, 45465712], [45477864, 45477886], [45477968, 45478111], [45479388, 45479561], [45480260, 45480418], [45484721, 45484823], [45485117, 45485169], [45486395, 45486517], [45487352, 45487450], [45488716, 45488777]]
ENST00000340258 [[45455239, 45455314], [45465612, 45465712], [45467220, 45467296], [45477968, 45478111], [45479469, 45479561], [45480260, 45480418], [45484721, 45484823], [45485117, 45485169], [45486395, 45486517], [45487352, 45487450], [45488716, 45491339]] [[45465650, 45465712], [45467220, 45467296], [45477968, 45478111], [45479469, 45479561], [45480260, 45480418], [45484721, 45484823], [45485117, 45485169], [45486395, 45486517], [45487352, 45487450], [45488716, 45488777]]
ENST00000483709 [[45455286, 45455314], [45465612, 45465712], [45467220, 45467296], [45476339, 45476375], [45477968, 45478111], [45479469, 45479561], [45480260, 45480418], [45484721, 45484822]] [[45465650, 45465712], [45467220, 45467296], [45476339, 45476351]]
ENST00000472561 [[45467241, 45467296], [45477968, 45478111], [45480260, 45480418], [45484721, 45484823], [45485117, 45485169], [45486395, 45486517], [45487352, 45487450], [45488716, 45488878]] None
ENST00000465735 [[45476486, 45478111], [45479469, 45479561], [45480260, 45480418], [45484721, 45484823], [45485117, 45485169], [45486395, 45486517], [45487352, 45487408]] None
ENST00000471941 [[45478475, 45480418], [45484721, 45484823], [45485117, 45485169], [45486395, 45486517], [45487352, 45487408]] None
ENST00000471808 [[45480323, 45480418], [45484721, 45484823], [45485064, 45485169], [45486395, 45486503]] None
ENST00000427758 [[45455278, 45455314], [45465612, 45465712], [45467220, 45467296], [45477968, 45478111], [45479388, 45479561]] [[45465650, 45465712], [45467220, 45467296], [45477968, 45478111], [45479388, 45479561]]
ENST00000462822 [[45465616, 45465712], [45467220, 45467296], [45477972, 45478111], [45479317, 45479360]] None
ENST00000428466 [[45465671, 45465712], [45467220, 45467296], [45477968, 45478111], [45478357, 45478532]] [[45465671, 45465712], [45467220, 45467296], [45477968, 45478111], [45478357, 45478469]]
ENST00000484477 [[45484780, 45484823], [45485117, 45485169], [45486395, 45486791]] [[45484780, 45484823], [45485117, 45485169], [45486395, 45486553]]
ENST00000493490 [[45485985, 45486276], [45486395, 45486517], [45487352, 45487418]] None
NM_032023 [[45455218, 45455314], [45465612, 45465712], [45467220, 45467296], [45477968, 45478111], [45479469, 45479561], [45480260, 45480418], [45484721, 45484823], [45485117, 45485169], [45486395, 45486517], [45487352, 45487450], [45488716, 45490172]] [[45465650, 45465712], [45467220, 45467296], [45477968, 45478111], [45479469, 45479561], [45480260, 45480418], [45484721, 45484823], [45485117, 45485169], [45486395, 45486517], [45487352, 45487450], [45488716, 45488777]]
Promoter
Chrom Start End Description
chr10 45455207 45455263 CAGE_peak_1_at_RASSF4_5end
chr10 45476058 45476069 CAGE_peak_5_at_RASSF4_5end
chr10 45477877 45477901 CAGE_peak_2_at_RASSF4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I044957 44957669 44969963 2.52 [{'connected_gene': 'RASSF4', 'score': 558.78}, {'connected_gene': 'WASHC2C', 'score': 36.95}, {'connected_gene': 'TMEM72-AS1', 'score': 24.31}, {'connected_gene': 'ZNF22', 'score': 16.47}, {'connected_gene': 'AGAP4', 'score': 15.32}, {'connected_gene': 'C10orf25', 'score': 13.01}, {'connected_gene': 'ENSG00000223462', 'score': 12.97}, {'connected_gene': 'ENSG00000234504', 'score': 11.77}, {'connected_gene': 'TMEM72', 'score': 10.31}, {'connected_gene': 'CEP164P1', 'score': 6.66}, {'connected_gene': 'ALOX5', 'score': 2.41}, {'connected_gene': 'OR13A1', 'score': 1.49}, {'connected_gene': 'ENSG00000273363', 'score': 0.77}, {'connected_gene': 'GC10M044957', 'score': 0.77}, {'connected_gene': 'LOC105378281', 'score': 0.44}]
chr10 GH10I044925 44925474 44925879 0.74 [{'connected_gene': 'RASSF4', 'score': 11.04}, {'connected_gene': 'TMEM72-AS1', 'score': 11.04}, {'connected_gene': 'ZNF22', 'score': 10.94}, {'connected_gene': 'C10orf25', 'score': 10.93}, {'connected_gene': 'TMEM72', 'score': 1.78}, {'connected_gene': 'ALOX5', 'score': 1.17}, {'connected_gene': 'ENSG00000234504', 'score': 0.44}, {'connected_gene': 'ENSG00000223462', 'score': 0.39}]
chr10 GH10I044927 44927060 44928020 0.85 [{'connected_gene': 'RASSF4', 'score': 11.55}, {'connected_gene': 'TMEM72-AS1', 'score': 11.55}, {'connected_gene': 'C10orf25', 'score': 10.94}, {'connected_gene': 'ZNF22', 'score': 10.94}, {'connected_gene': 'TMEM72', 'score': 10.0}, {'connected_gene': 'ALOX5', 'score': 1.33}, {'connected_gene': 'ENSG00000234504', 'score': 0.44}, {'connected_gene': 'ENSG00000223462', 'score': 0.44}]
chr10 GH10I044940 44940213 44940362 0.85 [{'connected_gene': 'RASSF4', 'score': 4.57}, {'connected_gene': 'ENSG00000223462', 'score': 0.77}, {'connected_gene': 'TMEM72-AS1', 'score': 0.37}]
chr10 GH10I044945 44945708 44950936 1.22 [{'connected_gene': 'TMEM72', 'score': 20.24}, {'connected_gene': 'C10orf25', 'score': 10.9}, {'connected_gene': 'ZNF22', 'score': 10.9}, {'connected_gene': 'RASSF4', 'score': 7.14}, {'connected_gene': 'ENSG00000227683', 'score': 5.25}, {'connected_gene': 'TMEM72-AS1', 'score': 4.68}, {'connected_gene': 'RSU1P2', 'score': 4.58}, {'connected_gene': 'ALOX5', 'score': 4.33}, {'connected_gene': 'ENSG00000223462', 'score': 0.39}]
chr10 GH10I044932 44932553 44933200 1.03 [{'connected_gene': 'TMEM72-AS1', 'score': 16.29}, {'connected_gene': 'RASSF4', 'score': 11.77}, {'connected_gene': 'C10orf25', 'score': 10.88}, {'connected_gene': 'ZNF22', 'score': 10.88}, {'connected_gene': 'ENSG00000223462', 'score': 0.77}, {'connected_gene': 'ENSG00000234504', 'score': 0.39}, {'connected_gene': 'TMEM72', 'score': 0.34}]
chr10 GH10I044926 44925273 44925462 0.65 [{'connected_gene': 'TMEM72-AS1', 'score': 11.04}, {'connected_gene': 'RASSF4', 'score': 11.04}, {'connected_gene': 'C10orf25', 'score': 10.93}, {'connected_gene': 'ZNF22', 'score': 10.93}, {'connected_gene': 'ENSG00000234504', 'score': 0.44}, {'connected_gene': 'TMEM72', 'score': 0.39}, {'connected_gene': 'ENSG00000223462', 'score': 0.39}]
chr10 GH10I044952 44952278 44953907 0.75 [{'connected_gene': 'TMEM72-AS1', 'score': 12.95}, {'connected_gene': 'RASSF4', 'score': 4.91}, {'connected_gene': 'AGAP4', 'score': 4.64}, {'connected_gene': 'ENSG00000223462', 'score': 0.37}]
chr10 GH10I044955 44955632 44956543 0.51 [{'connected_gene': 'TMEM72-AS1', 'score': 17.04}, {'connected_gene': 'RASSF4', 'score': 5.83}, {'connected_gene': 'ENSG00000223462', 'score': 0.37}]
chr10 GH10I044956 44956801 44957000 0.63 [{'connected_gene': 'TMEM72-AS1', 'score': 0.77}, {'connected_gene': 'RASSF4', 'score': 0.77}, {'connected_gene': 'ENSG00000223462', 'score': 0.37}]
chr10 GH10I044999 44999307 45002772 2.19 [{'connected_gene': 'C10orf25', 'score': 568.22}, {'connected_gene': 'ZNF22', 'score': 559.88}, {'connected_gene': 'PIR48571', 'score': 550.77}, {'connected_gene': 'PIR53385', 'score': 550.77}, {'connected_gene': 'PARGP1', 'score': 28.36}, {'connected_gene': 'WASHC2C', 'score': 18.54}, {'connected_gene': 'ENSG00000273363', 'score': 12.1}, {'connected_gene': 'FAM21FP', 'score': 10.43}, {'connected_gene': 'RASSF4', 'score': 5.48}, {'connected_gene': 'AGAP4', 'score': 4.29}, {'connected_gene': 'MARCH8', 'score': 4.06}, {'connected_gene': 'GC10P045025', 'score': 0.34}, {'connected_gene': 'CEP164P1', 'score': 0.18}]
chr10 GH10I044989 44989117 44998800 1.64 [{'connected_gene': 'C10orf25', 'score': 17.68}, {'connected_gene': 'ENSG00000223462', 'score': 12.45}, {'connected_gene': 'DEPP1', 'score': 7.81}, {'connected_gene': 'PIR39907', 'score': 0.77}, {'connected_gene': 'GC10M045017', 'score': 0.77}, {'connected_gene': 'PIR53874', 'score': 0.77}, {'connected_gene': 'RASSF4', 'score': 0.29}]
chr10 GH10I044971 44971395 44988290 2.8 [{'connected_gene': 'DEPP1', 'score': 550.77}, {'connected_gene': 'PIR49011', 'score': 550.77}, {'connected_gene': 'C10orf25', 'score': 25.84}, {'connected_gene': 'ZNF22', 'score': 21.09}, {'connected_gene': 'TMEM72-AS1', 'score': 18.58}, {'connected_gene': 'RASSF4', 'score': 17.48}, {'connected_gene': 'FAM21FP', 'score': 13.13}, {'connected_gene': 'ENSG00000223462', 'score': 12.49}, {'connected_gene': 'ENSG00000234504', 'score': 11.31}, {'connected_gene': 'WASHC2C', 'score': 10.81}, {'connected_gene': 'TMEM72', 'score': 10.31}, {'connected_gene': 'CEP164P1', 'score': 7.18}, {'connected_gene': 'PIR39907', 'score': 0.37}]
chr10 GH10I044969 44969973 44970122 0.4 [{'connected_gene': 'LOC105378281', 'score': 550.77}, {'connected_gene': 'ENSG00000223462', 'score': 12.24}, {'connected_gene': 'C10orf25', 'score': 11.7}, {'connected_gene': 'ZNF22', 'score': 11.7}, {'connected_gene': 'TMEM72', 'score': 10.3}, {'connected_gene': 'TMEM72-AS1', 'score': 0.39}, {'connected_gene': 'RASSF4', 'score': 0.39}]
chr10 GH10I044934 44934644 44937067 1.09 [{'connected_gene': 'ENSG00000223462', 'score': 550.77}, {'connected_gene': 'TMEM72', 'score': 7.74}, {'connected_gene': 'RASSF4', 'score': 4.57}, {'connected_gene': 'ENSG00000234504', 'score': 0.37}, {'connected_gene': 'TMEM72-AS1', 'score': 0.34}]
chr10 GH10I044943 44943913 44944289 0.39 [{'connected_gene': 'ENSG00000223462', 'score': 0.44}, {'connected_gene': 'TMEM72-AS1', 'score': 0.37}, {'connected_gene': 'RASSF4', 'score': 0.37}]
chr10 GH10I044939 44939024 44939295 0.61 [{'connected_gene': 'ENSG00000223462', 'score': 550.77}, {'connected_gene': 'AGAP4', 'score': 14.33}, {'connected_gene': 'AGAP10P', 'score': 10.26}, {'connected_gene': 'RASSF4', 'score': 6.36}, {'connected_gene': 'ALOX5', 'score': 3.23}, {'connected_gene': 'OR13A1', 'score': 1.64}, {'connected_gene': 'TMEM72-AS1', 'score': 0.34}]