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
ENST00000299300 [[69979113, 69979304], [69980049, 69980124], [69980532, 69980598], [69981284, 69981396], [69981709, 69981786], [69981929, 69982042], [69983264, 69983467], [69985838, 69985939], [69986755, 69986883], [69987289, 69987393], [69990935, 69991055], [69991417, 69991546], [69991747, 69991851], [69992101, 69992201], [69993642, 69993784], [69995074, 69995350]] [[69979301, 69979304], [69980049, 69980124], [69980532, 69980598], [69981284, 69981396], [69981709, 69981786], [69981929, 69982042], [69983264, 69983467], [69985838, 69985939], [69986755, 69986883], [69987289, 69987393], [69990935, 69991055], [69991417, 69991546], [69991747, 69991851], [69992101, 69992201], [69993642, 69993784], [69995074, 69995105]]
ENST00000544368 [[69979239, 69979304], [69980049, 69980124], [69980532, 69980598], [69981284, 69981396], [69981709, 69981786], [69981929, 69982042], [69983264, 69983467], [69985838, 69985939], [69986755, 69986883], [69987289, 69987393], [69990935, 69991055], [69991417, 69991546], [69991747, 69991851], [69992101, 69992201], [69995074, 69995305]] [[69979301, 69979304], [69980049, 69980124], [69980532, 69980598], [69981284, 69981396], [69981709, 69981786], [69981929, 69982042], [69983264, 69983467], [69985838, 69985939], [69986755, 69986883], [69987289, 69987393], [69990935, 69991055], [69991417, 69991546], [69991747, 69991851], [69992101, 69992201], [69995074, 69995232]]
ENST00000550010 [[69979251, 69979304], [69980049, 69980124], [69980532, 69980598], [69981284, 69981396], [69981709, 69981786], [69981929, 69982042], [69983264, 69983467], [69985838, 69985939], [69986755, 69986883], [69987289, 69987393], [69990935, 69991055], [69991417, 69991546], [69992101, 69992201], [69993642, 69993784], [69995074, 69995305]] [[69979301, 69979304], [69980049, 69980124], [69980532, 69980598], [69981284, 69981396], [69981709, 69981786], [69981929, 69982042], [69983264, 69983467], [69985838, 69985939], [69986755, 69986883], [69987289, 69987393], [69990935, 69991055], [69991417, 69991546], [69992101, 69992121]]
ENST00000543146 [[69979445, 69979789], [69980049, 69980124], [69980532, 69980598], [69981284, 69981396], [69981709, 69981786], [69981929, 69982042], [69983264, 69983467], [69985838, 69985939], [69986755, 69986883], [69987289, 69987393], [69990935, 69991055], [69991417, 69991546], [69991747, 69991851], [69992101, 69992201], [69993642, 69993784], [69995074, 69995345]] [[69980595, 69980598], [69981284, 69981396], [69981709, 69981786], [69981929, 69982042], [69983264, 69983467], [69985838, 69985939], [69986755, 69986883], [69987289, 69987393], [69990935, 69991055], [69991417, 69991546], [69991747, 69991851], [69992101, 69992201], [69993642, 69993784], [69995074, 69995105]]
ENST00000546859 [[69979205, 69979304], [69980049, 69980124], [69980532, 69980598], [69981284, 69981396], [69981709, 69981952]] None
ENST00000549933 [[69979238, 69979304], [69980049, 69980124], [69980532, 69980927]] None
ENST00000550455 [[69979238, 69979304], [69980049, 69980124], [69980532, 69980598], [69981284, 69981558]] None
ENST00000550638 [[69979238, 69979304], [69980049, 69980124], [69980532, 69980598], [69981284, 69981396], [69981709, 69981786], [69981929, 69982216]] None
ENST00000551620 [[69979238, 69979304], [69980049, 69980124], [69980532, 69980598], [69981284, 69981396], [69981709, 69981786], [69981929, 69982042], [69983264, 69983531]] None
ENST00000551899 [[69979239, 69979304], [69979530, 69979789], [69980049, 69980124], [69980532, 69980705]] None
ENST00000548787 [[69982941, 69983467], [69985838, 69985939], [69986755, 69986883], [69987289, 69987386]] None
ENST00000546850 [[69983358, 69983467], [69985838, 69986093]] None
ENST00000553169 [[69986316, 69986883], [69987289, 69987393], [69990935, 69991022]] None
ENST00000550653 [[69993493, 69993784], [69995074, 69995350]] None
NM_006431 [[69979207, 69979304], [69980049, 69980124], [69980532, 69980598], [69981284, 69981396], [69981709, 69981786], [69981929, 69982042], [69983264, 69983467], [69985838, 69985939], [69986755, 69986883], [69987289, 69987393], [69990935, 69991055], [69991417, 69991546], [69991747, 69991851], [69992101, 69992201], [69993642, 69993784], [69995074, 69995357]] [[69979301, 69979304], [69980049, 69980124], [69980532, 69980598], [69981284, 69981396], [69981709, 69981786], [69981929, 69982042], [69983264, 69983467], [69985838, 69985939], [69986755, 69986883], [69987289, 69987393], [69990935, 69991055], [69991417, 69991546], [69991747, 69991851], [69992101, 69992201], [69993642, 69993784], [69995074, 69995105]]
NM_001198842 [[69979461, 69979789], [69980049, 69980124], [69980532, 69980598], [69981284, 69981396], [69981709, 69981786], [69981929, 69982042], [69983264, 69983467], [69985838, 69985939], [69986755, 69986883], [69987289, 69987393], [69990935, 69991055], [69991417, 69991546], [69991747, 69991851], [69992101, 69992201], [69993642, 69993784], [69995074, 69995357]] [[69980595, 69980598], [69981284, 69981396], [69981709, 69981786], [69981929, 69982042], [69983264, 69983467], [69985838, 69985939], [69986755, 69986883], [69987289, 69987393], [69990935, 69991055], [69991417, 69991546], [69991747, 69991851], [69992101, 69992201], [69993642, 69993784], [69995074, 69995105]]
Promoter
Chrom Start End Description
chr12 69979113 69979155 CAGE_peak_12_at_CCT2_5end
chr12 69979210 69979252 CAGE_peak_1_at_CCT2_5end
chr12 69979270 69979281 CAGE_peak_2_at_CCT2_5end
chr12 69979461 69979471 CAGE_peak_20_at_CCT2_5end
chr12 69979638 69979683 CAGE_peak_3_at_CCT2_5end
chr12 69980043 69980088 CAGE_peak_4_at_CCT2_5end
chr12 69983302 69983328 CAGE_peak_5_at_CCT2_5end
chr12 69983331 69983347 CAGE_peak_8_at_CCT2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I069553 69553624 69556782 0.95 [{'connected_gene': 'NUP107', 'score': 15.96}, {'connected_gene': 'CNOT2', 'score': 13.66}, {'connected_gene': 'KRT8P39', 'score': 12.99}, {'connected_gene': 'CPSF6', 'score': 11.73}, {'connected_gene': 'FRS2', 'score': 7.42}, {'connected_gene': 'CCT2', 'score': 5.0}, {'connected_gene': 'MIR3913-2', 'score': 0.31}, {'connected_gene': 'GC12P069484', 'score': 0.19}, {'connected_gene': 'GC12P069483', 'score': 0.19}]
chr12 GH12I069404 69404130 69406882 0.88 [{'connected_gene': 'LYZ', 'score': 15.05}, {'connected_gene': 'FRS2', 'score': 10.74}, {'connected_gene': 'CCT2', 'score': 10.04}, {'connected_gene': 'YEATS4', 'score': 6.15}, {'connected_gene': 'RN7SL804P', 'score': 0.77}, {'connected_gene': 'RPS26P45', 'score': 0.37}]
chr12 GH12I069610 69610894 69610953 0.5 [{'connected_gene': 'LRRC10', 'score': 550.77}, {'connected_gene': 'CCT2', 'score': 0.31}]
chr12 GH12I069238 69238484 69241576 2.3 [{'connected_gene': 'CPSF6', 'score': 559.71}, {'connected_gene': 'LYZ', 'score': 23.47}, {'connected_gene': 'RAP1B', 'score': 13.28}, {'connected_gene': 'NUP107', 'score': 10.24}, {'connected_gene': 'MDM2', 'score': 8.14}, {'connected_gene': 'YEATS4', 'score': 8.13}, {'connected_gene': 'FRS2', 'score': 7.94}, {'connected_gene': 'CCT2', 'score': 6.82}, {'connected_gene': 'SLC35E3', 'score': 3.65}, {'connected_gene': 'RAB3IP', 'score': 3.6}, {'connected_gene': 'GC12P069269', 'score': 0.31}]
chr12 GH12I069526 69526959 69529328 0.79 [{'connected_gene': 'FRS2', 'score': 18.68}, {'connected_gene': 'LYZ', 'score': 10.79}, {'connected_gene': 'CCT2', 'score': 5.2}, {'connected_gene': 'YEATS4', 'score': 4.8}, {'connected_gene': 'GC12P069484', 'score': 0.26}, {'connected_gene': 'GC12P069483', 'score': 0.26}, {'connected_gene': 'MIR3913-2', 'score': 0.22}]
chr12 GH12I069445 69445834 69446044 0.22 [{'connected_gene': 'FRS2', 'score': 3.61}, {'connected_gene': 'CPSF6', 'score': 3.17}, {'connected_gene': 'CCT2', 'score': 3.14}, {'connected_gene': 'YEATS4', 'score': 3.12}, {'connected_gene': 'LINC02373', 'score': 0.39}]
chr12 GH12I069469 69469780 69471919 2.05 [{'connected_gene': 'FRS2', 'score': 557.94}, {'connected_gene': 'CCT2', 'score': 10.12}, {'connected_gene': 'LYZ', 'score': 9.86}, {'connected_gene': 'GC12P069484', 'score': 0.39}, {'connected_gene': 'GC12P069483', 'score': 0.39}]
chr12 GH12I069994 69994062 69995358 0.77 [{'connected_gene': 'CCT2', 'score': 13.44}, {'connected_gene': 'MYRFL', 'score': 7.16}, {'connected_gene': 'ENSG00000257815', 'score': 6.65}, {'connected_gene': 'RAB3IP', 'score': 1.48}, {'connected_gene': 'ENSG00000257241', 'score': 0.25}, {'connected_gene': 'LOC100125409', 'score': 0.13}]
chr12 GH12I069986 69986999 69989746 1.2 [{'connected_gene': 'CCT2', 'score': 21.34}, {'connected_gene': 'MYRFL', 'score': 8.32}, {'connected_gene': 'ENSG00000257815', 'score': 7.4}, {'connected_gene': 'RAB3IP', 'score': 2.1}, {'connected_gene': 'ENSG00000257241', 'score': 0.26}, {'connected_gene': 'LOC100125409', 'score': 0.13}]
chr12 GH12I069474 69474420 69476417 1.17 [{'connected_gene': 'CCT2', 'score': 16.73}, {'connected_gene': 'FRS2', 'score': 12.88}, {'connected_gene': 'LYZ', 'score': 9.86}, {'connected_gene': 'CPSF6', 'score': 6.87}, {'connected_gene': 'YEATS4', 'score': 6.67}, {'connected_gene': 'RAB3IP', 'score': 1.55}, {'connected_gene': 'GC12P069484', 'score': 0.44}, {'connected_gene': 'GC12P069483', 'score': 0.44}]
chr12 GH12I069619 69619509 69619530 0.23 [{'connected_gene': 'CCT2', 'score': 20.04}, {'connected_gene': 'FRS2', 'score': 19.78}, {'connected_gene': 'CPSF6', 'score': 19.26}, {'connected_gene': 'YEATS4', 'score': 18.54}, {'connected_gene': 'LYZ', 'score': 10.65}, {'connected_gene': 'RAB3IP', 'score': 2.06}, {'connected_gene': 'LOC105369823', 'score': 0.77}, {'connected_gene': 'LRRC10', 'score': 0.44}]
chr12 GH12I069584 69584769 69586522 2.08 [{'connected_gene': 'CCT2', 'score': 555.47}, {'connected_gene': 'MIR3913-1', 'score': 550.77}, {'connected_gene': 'MIR3913-2', 'score': 550.77}, {'connected_gene': 'FRS2', 'score': 17.32}, {'connected_gene': 'RAP1B', 'score': 13.28}, {'connected_gene': 'NUP107', 'score': 10.24}, {'connected_gene': 'LYZ', 'score': 10.13}, {'connected_gene': 'LRRC10', 'score': 0.31}]