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
ENST00000264255 [[99935444, 99936262], [99938417, 99938672], [99943997, 99944116], [99949484, 99949705], [99952701, 99952925]] [[99936144, 99936262], [99938417, 99938672], [99943997, 99944116], [99949484, 99949673]]
ENST00000422767 [[99935970, 99936262], [99938417, 99938672], [99949484, 99949705]] [[99938666, 99938672], [99949484, 99949673]]
ENST00000409434 [[99937996, 99938672], [99943997, 99944116], [99949484, 99949705], [99952701, 99952796]] [[99938413, 99938672], [99943997, 99944116], [99949484, 99949673]]
ENST00000463385 [[99938023, 99938672], [99943997, 99944116], [99949446, 99949705], [99952701, 99952773]] None
ENST00000438680 [[99938406, 99938672], [99943997, 99944116], [99949446, 99949705], [99952701, 99952796]] [[99949448, 99949673]]
ENST00000434323 [[99938525, 99938672], [99939023, 99939122], [99943997, 99944116], [99949484, 99949705], [99952701, 99952848]] [[99939061, 99939122], [99943997, 99944116], [99949484, 99949673]]
ENST00000409705 [[99938573, 99938672], [99943997, 99944116], [99949484, 99949705], [99954779, 99954854], [99957111, 99957165]] [[99938573, 99938672], [99943997, 99944116], [99949484, 99949673]]
ENST00000465183 [[99949224, 99949705], [99952701, 99952819]] None
ENST00000477337 [[99952799, 99953195], [99954779, 99954854], [99957111, 99957159]] None
NM_005783 [[99935486, 99936262], [99938417, 99938672], [99943997, 99944116], [99949484, 99949705], [99952701, 99952860]] [[99936144, 99936262], [99938417, 99938672], [99943997, 99944116], [99949484, 99949673]]
Promoter
Chrom Start End Description
chr2 99952769 99952823 CAGE_peak_1_at_TXNDC9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I099323 99323688 99325091 0.31 [{'connected_gene': 'TSGA10', 'score': 25.72}, {'connected_gene': 'REV1', 'score': 15.67}, {'connected_gene': 'ENSG00000241962', 'score': 12.08}, {'connected_gene': 'MITD1', 'score': 11.49}, {'connected_gene': 'MRPL30', 'score': 11.49}, {'connected_gene': 'LIPT1', 'score': 10.01}, {'connected_gene': 'LYG1', 'score': 8.95}, {'connected_gene': 'PIR33754', 'score': 0.44}, {'connected_gene': 'EIF5B', 'score': 0.39}, {'connected_gene': 'TXNDC9', 'score': 0.37}]
chr2 GH02I099388 99388977 99390435 0.31 [{'connected_gene': 'TSGA10', 'score': 15.41}, {'connected_gene': 'LYG1', 'score': 13.78}, {'connected_gene': 'TXNDC9', 'score': 11.47}, {'connected_gene': 'EIF5B', 'score': 11.46}, {'connected_gene': 'REV1', 'score': 10.65}, {'connected_gene': 'ENSG00000273306', 'score': 0.37}]
chr2 GH02I099430 99430539 99431947 0.52 [{'connected_gene': 'TSGA10', 'score': 24.39}, {'connected_gene': 'TXNDC9', 'score': 11.23}, {'connected_gene': 'EIF5B', 'score': 11.23}, {'connected_gene': 'REV1', 'score': 11.05}, {'connected_gene': 'MRPL30', 'score': 9.8}, {'connected_gene': 'LIPT1', 'score': 9.79}, {'connected_gene': 'LYG1', 'score': 9.75}, {'connected_gene': 'ENSG00000273306', 'score': 0.31}]
chr2 GH02I099398 99398917 99399459 0.52 [{'connected_gene': 'REV1', 'score': 10.71}, {'connected_gene': 'ENSG00000273306', 'score': 0.44}, {'connected_gene': 'TXNDC9', 'score': 0.22}, {'connected_gene': 'EIF5B', 'score': 0.21}]
chr2 GH02I099334 99334998 99338930 2.11 [{'connected_gene': 'TXNDC9', 'score': 550.77}, {'connected_gene': 'EIF5B', 'score': 550.77}, {'connected_gene': 'LOC550644', 'score': 23.76}, {'connected_gene': 'TSGA10', 'score': 15.84}, {'connected_gene': 'REV1', 'score': 14.81}, {'connected_gene': 'ENSG00000273306', 'score': 12.29}, {'connected_gene': 'UNC50', 'score': 11.68}, {'connected_gene': 'MITD1', 'score': 10.31}, {'connected_gene': 'LYG1', 'score': 9.45}, {'connected_gene': 'PIR33754', 'score': 0.37}]
chr2 GH02I099403 99403567 99405066 0.8 [{'connected_gene': 'ENSG00000273306', 'score': 550.77}, {'connected_gene': 'LYG1', 'score': 12.99}, {'connected_gene': 'REV1', 'score': 11.03}, {'connected_gene': 'TXNDC9', 'score': 0.21}]
chr2 GH02I099400 99400935 99401231 0.63 [{'connected_gene': 'ENSG00000273306', 'score': 0.77}, {'connected_gene': 'TXNDC9', 'score': 0.21}, {'connected_gene': 'EIF5B', 'score': 0.21}, {'connected_gene': 'REV1', 'score': 0.17}]