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
ENST00000503191 [[15274723, 15274814], [15340894, 15340992], [15480588, 15480758], [15517015, 15517156], [15519664, 15519805], [15531255, 15531345]] None
ENST00000382020 [[15397731, 15398077], [15480588, 15480758], [15508205, 15508323], [15517015, 15517156], [15519664, 15519805], [15531255, 15531345], [15588174, 15588238], [15601046, 15601121], [15605883, 15605974], [15621711, 15624158]] [[15397939, 15398077], [15480588, 15480758], [15508205, 15508323], [15517015, 15517156], [15519664, 15519805], [15531255, 15531345], [15588174, 15588238], [15601046, 15601121], [15605883, 15605974], [15621711, 15621727]]
ENST00000515859 [[15397735, 15398077], [15480588, 15480758], [15508205, 15508323], [15517015, 15517156], [15519664, 15519805], [15531255, 15531345], [15601046, 15601121], [15605883, 15605974], [15621711, 15622170]] [[15397939, 15398077], [15480588, 15480758], [15508205, 15508323], [15517015, 15517156], [15519664, 15519805], [15531255, 15531345], [15601046, 15601079]]
ENST00000506802 [[15397741, 15398077], [15480588, 15480758], [15508205, 15508323], [15517015, 15517156], [15519664, 15519805], [15531255, 15531345], [15588174, 15588238], [15601046, 15601121], [15621711, 15622122]] [[15397939, 15398077], [15480588, 15480758], [15508205, 15508323], [15517015, 15517156], [15519664, 15519805], [15531255, 15531345], [15588174, 15588238], [15601046, 15601121], [15621711, 15621719]]
ENST00000510836 [[15397787, 15398077], [15480588, 15480758], [15508205, 15508323], [15517015, 15517156], [15519664, 15519805], [15531255, 15531345], [15601046, 15601121], [15621711, 15622138]] [[15397939, 15398077], [15480588, 15480758], [15508205, 15508323], [15517015, 15517156], [15519664, 15519805], [15531255, 15531345], [15601046, 15601079]]
ENST00000509380 [[15397789, 15398077], [15480588, 15480758], [15508205, 15508323], [15517015, 15517156], [15519664, 15519805], [15531255, 15531345], [15588174, 15588238], [15590900, 15591154]] [[15397939, 15398077], [15480588, 15480758], [15508205, 15508323], [15517015, 15517156], [15519664, 15519805], [15531255, 15531345], [15588174, 15588238], [15590900, 15590908]]
ENST00000503731 [[15397791, 15398077], [15480588, 15480758], [15508205, 15508323], [15517015, 15517156], [15519664, 15519805], [15531255, 15531345], [15588174, 15588238], [15601046, 15601121], [15605883, 15605974], [15615299, 15615364], [15621711, 15621968]] [[15397939, 15398077], [15480588, 15480758], [15508205, 15508323], [15517015, 15517156], [15519664, 15519805], [15531255, 15531345], [15588174, 15588238], [15601046, 15601121], [15605883, 15605974], [15615299, 15615318]]
ENST00000507400 [[15419127, 15419194], [15480588, 15480758], [15508205, 15508323], [15517015, 15517156], [15519664, 15519805], [15531255, 15531345]] None
ENST00000511783 [[15480588, 15480758], [15508205, 15508323], [15517015, 15517156], [15519664, 15519805], [15531255, 15531345], [15588174, 15588238], [15601046, 15601121], [15605883, 15605974], [15615299, 15615368], [15615542, 15615786]] [[15480588, 15480758], [15508205, 15508323], [15517015, 15517156], [15519664, 15519805], [15531255, 15531345], [15588174, 15588238], [15601046, 15601121], [15605883, 15605974], [15615299, 15615318]]
ENST00000508446 [[15531271, 15531345], [15600954, 15601121], [15621711, 15621927]] None
ENST00000509177 [[15480586, 15480758], [15508205, 15508526]] None
ENST00000507316 [[15600952, 15601121], [15605883, 15605974], [15615299, 15615364], [15615538, 15615786]] None
ENST00000511342 [[15601038, 15601121], [15605883, 15606355]] None
NM_178234 [[15397595, 15398077], [15480588, 15480758], [15508205, 15508323], [15517015, 15517156], [15519664, 15519805], [15531255, 15531345], [15588174, 15588238], [15601046, 15601121], [15605883, 15605974], [15621711, 15624158]] [[15397939, 15398077], [15480588, 15480758], [15508205, 15508323], [15517015, 15517156], [15519664, 15519805], [15531255, 15531345], [15588174, 15588238], [15601046, 15601121], [15605883, 15605974], [15621711, 15621727]]
NM_006765 [[15397595, 15398077], [15480588, 15480758], [15508205, 15508323], [15517015, 15517156], [15519664, 15519805], [15531255, 15531345], [15588174, 15588238], [15601046, 15601121], [15605883, 15605974], [15615299, 15615364], [15621711, 15624158]] [[15397939, 15398077], [15480588, 15480758], [15508205, 15508323], [15517015, 15517156], [15519664, 15519805], [15531255, 15531345], [15588174, 15588238], [15601046, 15601121], [15605883, 15605974], [15615299, 15615318]]
Promoter
Chrom Start End Description
chr8 15274691 15274710 CAGE_peak_2_at_TUSC3_5end
chr8 15397763 15397786 CAGE_peak_1_at_TUSC3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I015504 15504632 15507340 0.79 [{'connected_gene': 'TUSC3', 'score': 10.42}, {'connected_gene': 'GC08M015501', 'score': 0.77}, {'connected_gene': 'GC08M015689', 'score': 0.09}]
chr8 GH08I015534 15534753 15538675 0.85 [{'connected_gene': 'TUSC3', 'score': 11.3}, {'connected_gene': 'GC08M015501', 'score': 0.29}, {'connected_gene': 'GC08M015689', 'score': 0.1}]
chr8 GH08I015581 15581965 15583024 0.96 [{'connected_gene': 'TUSC3', 'score': 7.42}, {'connected_gene': 'GC08M015501', 'score': 0.18}, {'connected_gene': 'GC08M015689', 'score': 0.14}]
chr8 GH08I015449 15449953 15451540 0.2 [{'connected_gene': 'TUSC3', 'score': 11.43}, {'connected_gene': 'GC08M015444', 'score': 0.77}, {'connected_gene': 'GC08M015501', 'score': 0.23}]
chr8 GH08I015561 15561930 15563321 0.64 [{'connected_gene': 'TUSC3', 'score': 9.5}, {'connected_gene': 'GC08M015501', 'score': 0.22}, {'connected_gene': 'GC08M015689', 'score': 0.13}]
chr8 GH08I015539 15539735 15541552 1.94 [{'connected_gene': 'TUSC3', 'score': 570.85}, {'connected_gene': 'GC08M015501', 'score': 0.28}, {'connected_gene': 'GC08M015689', 'score': 0.11}]
chr8 GH08I015644 15644376 15646478 0.87 [{'connected_gene': 'TUSC3', 'score': 8.52}, {'connected_gene': 'GC08M015689', 'score': 0.26}, {'connected_gene': 'GC08M015501', 'score': 0.11}]
chr8 GH08I015356 15356652 15356801 0.31 [{'connected_gene': 'TUSC3', 'score': 11.1}, {'connected_gene': 'ENSG00000249368', 'score': 0.29}]
chr8 GH08I015416 15416881 15417976 1.02 [{'connected_gene': 'TUSC3', 'score': 550.77}, {'connected_gene': 'GC08M015444', 'score': 0.31}]
chr8 GH08I015701 15701773 15702706 0.92 [{'connected_gene': 'LOC100431174', 'score': 0.39}, {'connected_gene': 'GC08M015726', 'score': 0.31}, {'connected_gene': 'TUSC3', 'score': 0.06}]
chr8 GH08I015339 15339585 15340244 0.31 [{'connected_gene': 'ENSG00000249368', 'score': 0.39}, {'connected_gene': 'TUSC3', 'score': 0.18}]
chr8 GH08I015763 15763852 15764001 0.31 [{'connected_gene': 'GC08P015767', 'score': 0.77}, {'connected_gene': 'GC08M015726', 'score': 0.29}, {'connected_gene': 'TUSC3', 'score': 0.05}]
chr8 GH08I015645 15644192 15644341 0.6 [{'connected_gene': 'GC08M015689', 'score': 0.25}, {'connected_gene': 'GC08M015501', 'score': 0.11}, {'connected_gene': 'TUSC3', 'score': 0.07}]
chr8 GH08I015517 15517520 15517548 0.22 [{'connected_gene': 'GC08M015501', 'score': 0.39}, {'connected_gene': 'TUSC3', 'score': 0.15}, {'connected_gene': 'GC08M015689', 'score': 0.09}]
chr8 GH08I015572 15572765 15574591 0.78 [{'connected_gene': 'GC08M015501', 'score': 0.19}, {'connected_gene': 'GC08M015689', 'score': 0.13}, {'connected_gene': 'TUSC3', 'score': 0.1}]
chr8 GH08I015542 15542412 15542501 0.54 [{'connected_gene': 'GC08M015501', 'score': 0.28}, {'connected_gene': 'TUSC3', 'score': 0.13}, {'connected_gene': 'GC08M015689', 'score': 0.11}]
chr8 GH08I015543 15542001 15542400 0.57 [{'connected_gene': 'GC08M015501', 'score': 0.28}, {'connected_gene': 'TUSC3', 'score': 0.13}, {'connected_gene': 'GC08M015689', 'score': 0.11}]
chr8 GH08I015740 15740507 15741696 0.52 [{'connected_gene': 'GC08M015726', 'score': 0.39}, {'connected_gene': 'GC08P015767', 'score': 0.31}, {'connected_gene': 'TUSC3', 'score': 0.05}]
chr8 GH08I015689 15689314 15689607 0.25 [{'connected_gene': 'GC08M015689', 'score': 550.77}, {'connected_gene': 'LOC100431174', 'score': 550.77}, {'connected_gene': 'TUSC3', 'score': 4.79}, {'connected_gene': 'GC08M015501', 'score': 0.09}]