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
ENST00000452276 [[94767071, 94767137], [94767247, 94767365], [94768005, 94768094], [94770710, 94770804], [94776069, 94776169], [94777633, 94777703], [94777799, 94777874], [94784816, 94784879], [94792820, 94792975], [94793101, 94793210], [94793885, 94793972], [94794622, 94794688], [94797449, 94797606], [94798450, 94798574], [94800071, 94800159]] [[94768091, 94768094], [94770710, 94770804], [94776069, 94776169], [94777633, 94777703], [94777799, 94777874], [94784816, 94784879], [94792820, 94792975], [94793101, 94793210], [94793885, 94793972], [94794622, 94794688], [94797449, 94797606], [94798450, 94798574], [94800071, 94800159]]
ENST00000453321 [[94767084, 94767365], [94768005, 94768094], [94770710, 94770804], [94776069, 94776169], [94777633, 94777703], [94777799, 94777874], [94784816, 94784879], [94792820, 94792975], [94793101, 94793210], [94793885, 94793972], [94794622, 94794688], [94797449, 94797606], [94798450, 94798574], [94800071, 94800177], [94803490, 94803547], [94805425, 94805524], [94807636, 94807735], [94808128, 94808215], [94809361, 94809461], [94809558, 94809698], [94811845, 94811986], [94815831, 94815912], [94816989, 94817106], [94821067, 94821184], [94821284, 94821389], [94822012, 94822115], [94827532, 94827675], [94828599, 94830285]] [[94767142, 94767365], [94768005, 94768094], [94770710, 94770804], [94776069, 94776169], [94777633, 94777703], [94777799, 94777874], [94784816, 94784879], [94792820, 94792975], [94793101, 94793210], [94793885, 94793972], [94794622, 94794688], [94797449, 94797606], [94798450, 94798574], [94800071, 94800177], [94803490, 94803547], [94805425, 94805524], [94807636, 94807735], [94808128, 94808215], [94809361, 94809461], [94809558, 94809698], [94811845, 94811986], [94815831, 94815912], [94816989, 94817106], [94821067, 94821184], [94821284, 94821389], [94822012, 94822115], [94827532, 94827675], [94828599, 94828680]]
ENST00000498673 [[94767092, 94767137], [94767247, 94767365], [94768005, 94768136], [94770710, 94770804], [94776069, 94776161]] [[94776143, 94776161]]
ENST00000518319 [[94767092, 94767137], [94767247, 94767365], [94768005, 94768094], [94770714, 94770804], [94774212, 94774251], [94776069, 94776169], [94777633, 94777703], [94777799, 94777819]] [[94776143, 94776169], [94777633, 94777703], [94777799, 94777819]]
ENST00000409623 [[94767114, 94767137], [94767247, 94767365], [94770714, 94770804], [94772087, 94772221], [94776069, 94776169], [94777633, 94777703], [94777799, 94777874], [94784816, 94784879], [94792820, 94792975], [94793101, 94793210], [94793885, 94793972], [94794622, 94794688], [94797449, 94797606], [94798450, 94798574], [94800071, 94800177], [94803490, 94803547], [94805425, 94805524], [94807636, 94807735], [94808128, 94808215], [94809361, 94809461], [94809558, 94809698], [94811845, 94811986], [94815831, 94815912], [94816989, 94817106], [94821067, 94821184], [94821284, 94821389], [94822012, 94822115], [94827532, 94827675], [94828599, 94828988]] [[94770775, 94770804], [94772087, 94772221], [94776069, 94776169], [94777633, 94777703], [94777799, 94777874], [94784816, 94784879], [94792820, 94792975], [94793101, 94793210], [94793885, 94793972], [94794622, 94794688], [94797449, 94797606], [94798450, 94798574], [94800071, 94800177], [94803490, 94803547], [94805425, 94805524], [94807636, 94807735], [94808128, 94808215], [94809361, 94809461], [94809558, 94809698], [94811845, 94811986], [94815831, 94815912], [94816989, 94817106], [94821067, 94821184], [94821284, 94821389], [94822012, 94822115], [94827532, 94827675], [94828599, 94828680]]
ENST00000453906 [[94767122, 94767365], [94768005, 94768094], [94770710, 94770804], [94798450, 94798574], [94800071, 94800082]] [[94767142, 94767365], [94768005, 94768094], [94770710, 94770804], [94798450, 94798574], [94800071, 94800082]]
ENST00000474944 [[94767122, 94767365], [94768005, 94768094], [94770710, 94770804], [94798450, 94798574], [94800071, 94800177], [94803490, 94803547], [94805425, 94805524], [94807636, 94807735], [94808128, 94808215], [94809361, 94809461], [94809558, 94809698], [94811845, 94811986], [94815831, 94815912], [94816989, 94817106], [94821067, 94821184], [94821284, 94821389], [94822012, 94822199]] None
ENST00000475305 [[94767133, 94767365], [94768005, 94768094], [94770710, 94771708]] None
ENST00000521222 [[94767133, 94767365], [94768005, 94768094], [94770714, 94770804], [94776069, 94776169], [94777633, 94777686]] [[94767142, 94767365], [94768005, 94768094], [94770714, 94770762]]
ENST00000455946 [[94767136, 94767365], [94768005, 94768094], [94770710, 94770804], [94775177, 94775293], [94776069, 94776169], [94777633, 94777703], [94777799, 94777844]] [[94767142, 94767365], [94768005, 94768094], [94770710, 94770804], [94775177, 94775215]]
ENST00000481620 [[94767139, 94767365], [94768005, 94769358]] None
ENST00000521065 [[94767147, 94767365], [94770710, 94770804], [94776069, 94776169], [94777633, 94777703], [94777799, 94777809]] [[94767147, 94767365], [94770710, 94770754]]
ENST00000521517 [[94767150, 94767365], [94768005, 94768094], [94770710, 94770804], [94776069, 94776169], [94777799, 94777819]] [[94767150, 94767365], [94768005, 94768094], [94770710, 94770804], [94776069, 94776169], [94777799, 94777819]]
ENST00000323130 [[94767154, 94767365], [94768005, 94768094], [94770710, 94770804], [94776069, 94776169], [94777633, 94777703], [94777799, 94777874], [94784816, 94784879], [94792820, 94792975], [94793101, 94793210], [94793885, 94793972], [94794622, 94794688], [94797449, 94797606], [94798450, 94798574], [94800071, 94800177], [94803490, 94803547], [94805425, 94805524], [94807636, 94807735], [94808128, 94808215], [94809361, 94809461], [94809558, 94809698], [94811845, 94811986], [94815831, 94815912], [94816989, 94817106], [94821067, 94821184], [94821284, 94821389], [94822012, 94822115], [94827532, 94827675], [94828599, 94828743], [94831217, 94831462]] [[94767172, 94767365], [94768005, 94768094], [94770710, 94770804], [94776069, 94776169], [94777633, 94777703], [94777799, 94777874], [94784816, 94784879], [94792820, 94792975], [94793101, 94793210], [94793885, 94793972], [94794622, 94794688], [94797449, 94797606], [94798450, 94798574], [94800071, 94800177], [94803490, 94803547], [94805425, 94805524], [94807636, 94807735], [94808128, 94808215], [94809361, 94809461], [94809558, 94809698], [94811845, 94811986], [94815831, 94815912], [94816989, 94817106], [94821067, 94821184], [94821284, 94821389], [94822012, 94822115], [94827532, 94827675], [94828599, 94828680]]
ENST00000496213 [[94777758, 94777874], [94784816, 94784879], [94792820, 94792975], [94793101, 94793198]] None
ENST00000425545 [[94781746, 94781844], [94784816, 94784879], [94792820, 94792975], [94793101, 94793210], [94793885, 94793972], [94794622, 94794678]] None
ENST00000520634 [[94797449, 94797606], [94797960, 94798040]] None
ENST00000520680 [[94797496, 94797606], [94798450, 94798574], [94800071, 94800177], [94803490, 94803547], [94804109, 94804232], [94805425, 94805524], [94807636, 94807732]] [[94797496, 94797606], [94798450, 94798574], [94800071, 94800177], [94803490, 94803547], [94804109, 94804232], [94805425, 94805524], [94807636, 94807732]]
ENST00000523230 [[94803437, 94803547], [94805425, 94805524], [94807636, 94807735], [94808128, 94808215], [94809361, 94809461], [94809558, 94809631]] None
ENST00000519845 [[94807043, 94807449], [94807636, 94807735], [94808128, 94808215], [94809361, 94809461], [94809558, 94809698], [94811845, 94811986], [94815831, 94815912], [94816989, 94817106], [94821067, 94821184], [94821284, 94821389], [94822012, 94822115], [94827532, 94827675], [94828599, 94828924]] None
ENST00000518896 [[94823509, 94823539], [94827532, 94827675], [94828599, 94828988]] None
ENST00000463467 [[94828635, 94828743], [94829943, 94830284]] None
NM_001142301 [[94767071, 94767137], [94767247, 94767365], [94770714, 94770804], [94772087, 94772221], [94776069, 94776169], [94777633, 94777703], [94777799, 94777874], [94784816, 94784879], [94792820, 94792975], [94793101, 94793210], [94793885, 94793972], [94794622, 94794688], [94797449, 94797606], [94798450, 94798574], [94800071, 94800177], [94803490, 94803547], [94805425, 94805524], [94807636, 94807735], [94808128, 94808215], [94809361, 94809461], [94809558, 94809698], [94811845, 94811986], [94815831, 94815912], [94816989, 94817106], [94821067, 94821184], [94821284, 94821389], [94822012, 94822115], [94827532, 94827675], [94828599, 94830347]] [[94770775, 94770804], [94772087, 94772221], [94776069, 94776169], [94777633, 94777703], [94777799, 94777874], [94784816, 94784879], [94792820, 94792975], [94793101, 94793210], [94793885, 94793972], [94794622, 94794688], [94797449, 94797606], [94798450, 94798574], [94800071, 94800177], [94803490, 94803547], [94805425, 94805524], [94807636, 94807735], [94808128, 94808215], [94809361, 94809461], [94809558, 94809698], [94811845, 94811986], [94815831, 94815912], [94816989, 94817106], [94821067, 94821184], [94821284, 94821389], [94822012, 94822115], [94827532, 94827675], [94828599, 94828680]]
NM_153704 [[94767071, 94767365], [94768005, 94768094], [94770710, 94770804], [94776069, 94776169], [94777633, 94777703], [94777799, 94777874], [94784816, 94784879], [94792820, 94792975], [94793101, 94793210], [94793885, 94793972], [94794622, 94794688], [94797449, 94797606], [94798450, 94798574], [94800071, 94800177], [94803490, 94803547], [94805425, 94805524], [94807636, 94807735], [94808128, 94808215], [94809361, 94809461], [94809558, 94809698], [94811845, 94811986], [94815831, 94815912], [94816989, 94817106], [94821067, 94821184], [94821284, 94821389], [94822012, 94822115], [94827532, 94827675], [94828599, 94830347]] [[94767142, 94767365], [94768005, 94768094], [94770710, 94770804], [94776069, 94776169], [94777633, 94777703], [94777799, 94777874], [94784816, 94784879], [94792820, 94792975], [94793101, 94793210], [94793885, 94793972], [94794622, 94794688], [94797449, 94797606], [94798450, 94798574], [94800071, 94800177], [94803490, 94803547], [94805425, 94805524], [94807636, 94807735], [94808128, 94808215], [94809361, 94809461], [94809558, 94809698], [94811845, 94811986], [94815831, 94815912], [94816989, 94817106], [94821067, 94821184], [94821284, 94821389], [94822012, 94822115], [94827532, 94827675], [94828599, 94828680]]
NR_024522 [[94767071, 94767365], [94768005, 94768094], [94770710, 94770804], [94776069, 94776169], [94777633, 94777703], [94777799, 94777874], [94784816, 94784879], [94792820, 94792975], [94793101, 94793210], [94793885, 94793972], [94794622, 94794688], [94797449, 94797606], [94798450, 94798574], [94800071, 94800177], [94803490, 94803547], [94805425, 94805524], [94807636, 94807735], [94808128, 94808215], [94809361, 94809461], [94809558, 94809698], [94811845, 94811986], [94815831, 94815912], [94816989, 94817106], [94821067, 94821184], [94821284, 94821389], [94822012, 94822115], [94827532, 94827675], [94828599, 94828743], [94831217, 94831462]] None
Promoter
Chrom Start End Description
chr8 94767087 94767105 CAGE_peak_2_at_TMEM67_5end
chr8 94767109 94767161 CAGE_peak_1_at_TMEM67_5end
chr8 94807036 94807054 CAGE_peak_3_at_TMEM67_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I093753 93753970 93755732 1.96 [{'connected_gene': 'TMEM67', 'score': 550.77}, {'connected_gene': 'PIR34125', 'score': 0.18}]
chr8 GH08I093915 93915458 93919263 2.22 [{'connected_gene': 'PDP1', 'score': 565.38}, {'connected_gene': 'MIR378D2', 'score': 550.77}, {'connected_gene': 'ENSG00000264448', 'score': 550.77}, {'connected_gene': 'LINC00535', 'score': 24.11}, {'connected_gene': 'FAM92A', 'score': 21.43}, {'connected_gene': 'ENSG00000253854', 'score': 19.34}, {'connected_gene': 'RPL34P18', 'score': 17.89}, {'connected_gene': 'TMEM67', 'score': 11.69}, {'connected_gene': 'DPY19L4', 'score': 11.28}, {'connected_gene': 'PSMA2P2', 'score': 0.31}]
chr8 GH08I094718 94718637 94721525 2.14 [{'connected_gene': 'DPY19L4', 'score': 556.16}, {'connected_gene': 'VIRMA', 'score': 75.65}, {'connected_gene': 'RBM12B', 'score': 50.15}, {'connected_gene': 'INTS8', 'score': 49.38}, {'connected_gene': 'C8orf37', 'score': 39.47}, {'connected_gene': 'NDUFAF6', 'score': 13.25}, {'connected_gene': 'RPL34P18', 'score': 11.26}, {'connected_gene': 'TMEM67', 'score': 10.99}, {'connected_gene': 'ENSG00000272509', 'score': 10.57}, {'connected_gene': 'ESRP1', 'score': 10.12}, {'connected_gene': 'ENSG00000253704', 'score': 9.77}, {'connected_gene': 'ENSG00000254307', 'score': 0.19}]
chr8 GH08I093748 93748539 93749379 0.75 [{'connected_gene': 'LOC105375645', 'score': 10.94}, {'connected_gene': 'TMEM67', 'score': 0.44}]
chr8 GH08I093803 93802775 93804218 0.87 [{'connected_gene': 'LOC105375645', 'score': 21.02}, {'connected_gene': 'PIR34125', 'score': 0.31}, {'connected_gene': 'TMEM67', 'score': 0.25}]
chr8 GH08I093827 93827855 93829704 0.51 [{'connected_gene': 'LOC105375645', 'score': 22.98}, {'connected_gene': 'PIR34125', 'score': 0.77}, {'connected_gene': 'TMEM67', 'score': 0.19}]
chr8 GH08I093824 93824467 93825601 0.2 [{'connected_gene': 'LOC105375645', 'score': 9.01}, {'connected_gene': 'PIR34125', 'score': 0.44}, {'connected_gene': 'TMEM67', 'score': 0.19}]
chr8 GH08I093819 93819933 93820082 0.4 [{'connected_gene': 'PIR34125', 'score': 0.39}, {'connected_gene': 'TMEM67', 'score': 0.2}]
chr8 GH08I093820 93819653 93819802 0.4 [{'connected_gene': 'PIR34125', 'score': 0.39}, {'connected_gene': 'TMEM67', 'score': 0.21}]
chr8 GH08I093802 93802053 93802202 0.31 [{'connected_gene': 'PIR34125', 'score': 0.29}, {'connected_gene': 'TMEM67', 'score': 0.25}]
chr8 GH08I093822 93822098 93822853 1.17 [{'connected_gene': 'PIR34125', 'score': 0.39}, {'connected_gene': 'TMEM67', 'score': 0.2}]
chr8 GH08I093830 93830093 93830213 0.52 [{'connected_gene': 'PIR34125', 'score': 0.77}, {'connected_gene': 'TMEM67', 'score': 0.18}]
chr8 GH08I093974 93974253 93974402 0.56 [{'connected_gene': 'ENSG00000275386', 'score': 550.77}, {'connected_gene': 'RPL34P18', 'score': 17.48}, {'connected_gene': 'VIRMA', 'score': 12.15}, {'connected_gene': 'ENSG00000253854', 'score': 11.51}, {'connected_gene': 'INTS8', 'score': 10.34}, {'connected_gene': 'TMEM67', 'score': 9.95}, {'connected_gene': 'DPY19L4', 'score': 9.72}]

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