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
ENST00000396863 [[42295753, 42295943], [42302445, 42302539], [42311433, 42311526], [42315491, 42315712], [42320796, 42320959], [42328396, 42328684], [42331129, 42331543], [42333858, 42333998], [42338602, 42338702], [42340127, 42340241], [42341641, 42341746], [42343773, 42343923], [42344598, 42344958]] [[42295923, 42295943], [42302445, 42302539], [42311433, 42311526], [42315491, 42315712], [42320796, 42320959], [42328396, 42328684], [42331129, 42331543], [42333858, 42333998], [42338602, 42338702], [42340127, 42340241], [42341641, 42341746], [42343773, 42343923], [42344598, 42344727]]
ENST00000217026 [[42295796, 42295943], [42302445, 42302539], [42310423, 42310495], [42311433, 42311526], [42315491, 42315712], [42320796, 42320959], [42328396, 42328684], [42331129, 42331543], [42333858, 42333998], [42338602, 42338702], [42340127, 42340241], [42341641, 42341746], [42343773, 42343923], [42344598, 42345136]] [[42295923, 42295943], [42302445, 42302539], [42310423, 42310495], [42311433, 42311526], [42315491, 42315712], [42320796, 42320959], [42328396, 42328684], [42331129, 42331543], [42333858, 42333998], [42338602, 42338702], [42340127, 42340241], [42341641, 42341746], [42343773, 42343923], [42344598, 42344727]]
NM_001278610 [[42295658, 42295943], [42302445, 42302539], [42311433, 42311526], [42315491, 42315712], [42320796, 42320959], [42328396, 42328684], [42331129, 42331543], [42333858, 42333998], [42338602, 42338702], [42340127, 42340241], [42341641, 42341746], [42343773, 42343923], [42344598, 42345136]] [[42295923, 42295943], [42302445, 42302539], [42311433, 42311526], [42315491, 42315712], [42320796, 42320959], [42328396, 42328684], [42331129, 42331543], [42333858, 42333998], [42338602, 42338702], [42340127, 42340241], [42341641, 42341746], [42343773, 42343923], [42344598, 42344727]]
NM_002466 [[42295658, 42295943], [42302445, 42302539], [42310423, 42310495], [42311433, 42311526], [42315491, 42315712], [42320796, 42320959], [42328396, 42328684], [42331129, 42331543], [42333858, 42333998], [42338602, 42338702], [42340127, 42340241], [42341641, 42341746], [42343773, 42343923], [42344598, 42345136]] [[42295923, 42295943], [42302445, 42302539], [42310423, 42310495], [42311433, 42311526], [42315491, 42315712], [42320796, 42320959], [42328396, 42328684], [42331129, 42331543], [42333858, 42333998], [42338602, 42338702], [42340127, 42340241], [42341641, 42341746], [42343773, 42343923], [42344598, 42344727]]
Promoter
Chrom Start End Description
chr20 42295713 42295738 CAGE_peak_2_at_MYBL2_5end
chr20 42295745 42295765 CAGE_peak_1_at_MYBL2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I044089 44089951 44090381 1.18 [{'connected_gene': 'SRSF6', 'score': 11.58}, {'connected_gene': 'MYBL2', 'score': 10.09}, {'connected_gene': 'SGK2', 'score': 9.88}, {'connected_gene': 'JPH2', 'score': 5.9}, {'connected_gene': 'GC20P044130', 'score': 0.26}, {'connected_gene': 'RN7SL443P', 'score': 0.18}]
chr20 GH20I043589 43589810 43591789 2.05 [{'connected_gene': 'IFT52', 'score': 574.59}, {'connected_gene': 'ENSG00000282876', 'score': 550.77}, {'connected_gene': 'MYBL2', 'score': 16.09}, {'connected_gene': 'SRSF6', 'score': 14.81}, {'connected_gene': 'GC20P043584', 'score': 0.44}, {'connected_gene': 'RPL27AP', 'score': 0.21}]
chr20 GH20I043721 43721698 43722738 0.86 [{'connected_gene': 'IFT52', 'score': 23.3}, {'connected_gene': 'MYBL2', 'score': 18.48}, {'connected_gene': 'GTSF1L', 'score': 0.77}, {'connected_gene': 'GC20M043632', 'score': 0.34}]
chr20 GH20I043680 43680694 43683513 1.16 [{'connected_gene': 'IFT52', 'score': 24.07}, {'connected_gene': 'MYBL2', 'score': 19.24}, {'connected_gene': 'GC20M043632', 'score': 0.37}]
chr20 GH20I043666 43666187 43668243 1.97 [{'connected_gene': 'MYBL2', 'score': 571.46}, {'connected_gene': 'IFT52', 'score': 24.01}, {'connected_gene': 'SRSF6', 'score': 10.25}, {'connected_gene': 'OSER1', 'score': 9.75}, {'connected_gene': 'GC20M043632', 'score': 0.29}]
chr20 GH20I043662 43662684 43664494 0.52 [{'connected_gene': 'MYBL2', 'score': 12.79}, {'connected_gene': 'GC20P043655', 'score': 0.44}, {'connected_gene': 'GC20M043632', 'score': 0.28}]
chr20 GH20I043665 43665690 43666141 0.46 [{'connected_gene': 'MYBL2', 'score': 569.43}, {'connected_gene': 'GC20P043655', 'score': 0.39}, {'connected_gene': 'GC20M043632', 'score': 0.29}]
chr20 GH20I043679 43679248 43680103 0.31 [{'connected_gene': 'MYBL2', 'score': 15.27}, {'connected_gene': 'GC20M043632', 'score': 0.37}]
chr20 GH20I043652 43652578 43653519 0.9 [{'connected_gene': 'RPL27AP', 'score': 550.77}, {'connected_gene': 'MYBL2', 'score': 12.39}, {'connected_gene': 'IFT52', 'score': 11.04}, {'connected_gene': 'SGK2', 'score': 9.46}, {'connected_gene': 'GC20P043655', 'score': 0.77}, {'connected_gene': 'GC20M043632', 'score': 0.25}]
chr20 GH20I044350 44350562 44358613 1.66 [{'connected_gene': 'LOC105372629', 'score': 561.32}, {'connected_gene': 'GC20P044356', 'score': 550.77}, {'connected_gene': 'HNF4A', 'score': 550.77}, {'connected_gene': 'SRSF6', 'score': 57.31}, {'connected_gene': 'L3MBTL1', 'score': 12.78}, {'connected_gene': 'IFT52', 'score': 10.3}, {'connected_gene': 'OSER1', 'score': 7.84}, {'connected_gene': 'OSER1-AS1', 'score': 5.95}, {'connected_gene': 'MYBL2', 'score': 4.53}, {'connected_gene': 'ENSG00000201363', 'score': 0.44}, {'connected_gene': 'R3HDML', 'score': 0.37}]
chr20 GH20I043583 43583256 43585856 1.14 [{'connected_gene': 'GC20P043584', 'score': 550.77}, {'connected_gene': 'IFT52', 'score': 24.25}, {'connected_gene': 'MYBL2', 'score': 14.49}, {'connected_gene': 'SRSF6', 'score': 11.67}, {'connected_gene': 'SGK2', 'score': 0.31}]
chr20 GH20I043656 43656299 43659059 1.63 [{'connected_gene': 'GC20P043655', 'score': 550.77}, {'connected_gene': 'IFT52', 'score': 28.09}, {'connected_gene': 'MYBL2', 'score': 18.22}, {'connected_gene': 'OSER1', 'score': 18.07}, {'connected_gene': 'SRSF6', 'score': 13.2}, {'connected_gene': 'SGK2', 'score': 10.26}, {'connected_gene': 'L3MBTL1', 'score': 2.82}, {'connected_gene': 'GC20M043632', 'score': 0.26}]
chr20 GH20I043692 43692061 43692210 0.74 [{'connected_gene': 'GC20M043632', 'score': 0.44}, {'connected_gene': 'MYBL2', 'score': 0.31}]
chr20 GH20I043691 43691041 43691190 0.92 [{'connected_gene': 'GC20M043632', 'score': 0.44}, {'connected_gene': 'MYBL2', 'score': 0.34}]
chr20 GH20I043710 43710081 43711523 0.59 [{'connected_gene': 'GC20M043632', 'score': 0.39}, {'connected_gene': 'GTSF1L', 'score': 0.37}, {'connected_gene': 'MYBL2', 'score': 0.26}]