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
ENST00000313005 [[117156401, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164724], [117165846, 117166063], [117167588, 117167677], [117186250, 117186972]] [[117160281, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164724], [117165846, 117166063], [117167588, 117167677], [117186250, 117186511]]
ENST00000528053 [[117158066, 117160523], [117161203, 117161375], [117161615, 117161765], [117163769, 117163904], [117164586, 117164724], [117165846, 117166063], [117167588, 117167677], [117186250, 117186975]] [[117160281, 117160523], [117161203, 117161375], [117161615, 117161765], [117163769, 117163904], [117164586, 117164724], [117165846, 117166063], [117167588, 117167677], [117186250, 117186511]]
ENST00000445823 [[117160250, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164724], [117165978, 117166063], [117167588, 117167677], [117186250, 117186514]] [[117160281, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164724], [117165978, 117166063], [117167588, 117167677], [117186250, 117186511]]
ENST00000513780 [[117160250, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164649], [117165846, 117166063], [117167588, 117167677], [117186250, 117186514]] [[117160281, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164649], [117165846, 117166063], [117167588, 117167677], [117186250, 117186511]]
ENST00000428381 [[117160250, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164649], [117165978, 117166063], [117167588, 117167677], [117186250, 117186514]] [[117160281, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164649], [117165978, 117166063], [117167588, 117167677], [117186250, 117186511]]
ENST00000514464 [[117164586, 117164724], [117166034, 117166063], [117167588, 117167677], [117186250, 117186511]] None
ENST00000392937 [[117156421, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164724], [117165846, 117166063], [117166213, 117166352]] [[117160281, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164724], [117165846, 117166063], [117166213, 117166263]]
ENST00000510630 [[117160202, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164649], [117165846, 117166063], [117166213, 117166289]] [[117160281, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164649], [117165846, 117166063], [117166213, 117166263]]
ENST00000509916 [[117161218, 117161375], [117161615, 117161765], [117162427, 117162713]] None
ENST00000530824 [[117161349, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117165157]] None
ENST00000510915 [[117162514, 117162529], [117163769, 117163904], [117164586, 117164724], [117165846, 117166063], [117166145, 117166201]] [[117162514, 117162529], [117163769, 117163904], [117164586, 117164589]]
ENST00000504995 [[117163786, 117163904], [117164586, 117164724], [117165846, 117166063], [117167588, 117167677], [117170363, 117170412]] [[117163786, 117163904], [117164586, 117164589]]
NM_012104 [[117156401, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164724], [117165846, 117166063], [117167588, 117167677], [117186250, 117186972]] [[117160281, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164724], [117165846, 117166063], [117167588, 117167677], [117186250, 117186511]]
NM_138972 [[117156401, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164649], [117165846, 117166063], [117167588, 117167677], [117186250, 117186972]] [[117160281, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164649], [117165846, 117166063], [117167588, 117167677], [117186250, 117186511]]
NM_138971 [[117156401, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164724], [117165978, 117166063], [117167588, 117167677], [117186250, 117186972]] [[117160281, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164724], [117165978, 117166063], [117167588, 117167677], [117186250, 117186511]]
NM_138973 [[117156401, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164649], [117165978, 117166063], [117167588, 117167677], [117186250, 117186972]] [[117160281, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164649], [117165978, 117166063], [117167588, 117167677], [117186250, 117186511]]
NM_001207048 [[117156401, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164724], [117165846, 117166063], [117166213, 117166386]] [[117160281, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164724], [117165846, 117166063], [117166213, 117166263]]
NM_001207049 [[117156401, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164649], [117165846, 117166063], [117166213, 117166386]] [[117160281, 117160523], [117161203, 117161375], [117161615, 117161765], [117162427, 117162529], [117163769, 117163904], [117164586, 117164649], [117165846, 117166063], [117166213, 117166263]]
Promoter
Chrom Start End Description
chr11 117159500 117159505 CAGE_peak_6_at_BACE1_5end
chr11 117166261 117166272 CAGE_peak_12_at_BACE1_5end
chr11 117166276 117166332 CAGE_peak_3_at_BACE1_5end
chr11 117170403 117170438 CAGE_peak_13_at_BACE1_5end
chr11 117186946 117186981 CAGE_peak_1_at_BACE1_5end
chr11 117186996 117187007 CAGE_peak_2_at_BACE1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I116687 116687335 116688674 0.79 [{'connected_gene': 'LOC653303', 'score': 7.97}, {'connected_gene': 'BACE1', 'score': 4.71}, {'connected_gene': 'GC11M116662', 'score': 0.34}, {'connected_gene': 'BUD13', 'score': 0.18}]
chr11 GH11I117299 117299075 117301417 1.2 [{'connected_gene': 'LOC653303', 'score': 8.63}, {'connected_gene': 'BACE1', 'score': 4.96}, {'connected_gene': 'ENSG00000276505', 'score': 0.77}, {'connected_gene': 'CEP164', 'score': 0.39}]
chr11 GH11I117229 117229130 117234474 2.18 [{'connected_gene': 'RNF214', 'score': 550.77}, {'connected_gene': 'PCSK7', 'score': 550.77}, {'connected_gene': 'LOC653303', 'score': 25.87}, {'connected_gene': 'BACE1', 'score': 12.09}, {'connected_gene': 'APOA1', 'score': 10.58}, {'connected_gene': 'ENSG00000280143', 'score': 0.31}]
chr11 GH11I117280 117280171 117282476 0.66 [{'connected_gene': 'RNF214', 'score': 15.87}, {'connected_gene': 'PCSK7', 'score': 10.84}, {'connected_gene': 'BACE1', 'score': 7.31}, {'connected_gene': 'LOC653303', 'score': 6.39}, {'connected_gene': 'PIR36792', 'score': 0.44}, {'connected_gene': 'ENSG00000252992', 'score': 0.37}]
chr11 GH11I117273 117273396 117275003 0.95 [{'connected_gene': 'RNF214', 'score': 16.99}, {'connected_gene': 'BACE1', 'score': 15.69}, {'connected_gene': 'PCSK7', 'score': 11.0}, {'connected_gene': 'CEP164', 'score': 10.23}, {'connected_gene': 'LOC653303', 'score': 8.72}, {'connected_gene': 'PIR36792', 'score': 0.39}, {'connected_gene': 'ENSG00000252992', 'score': 0.39}]
chr11 GH11I116703 116703525 116703694 0.49 [{'connected_gene': 'BACE1', 'score': 5.15}, {'connected_gene': 'GC11M116662', 'score': 0.28}, {'connected_gene': 'BUD13', 'score': 0.2}]
chr11 GH11I117238 117238618 117240159 0.46 [{'connected_gene': 'BACE1', 'score': 15.19}, {'connected_gene': 'ENSG00000252992', 'score': 11.85}, {'connected_gene': 'LOC653303', 'score': 8.5}, {'connected_gene': 'RNF214', 'score': 0.44}, {'connected_gene': 'GC11P117264', 'score': 0.34}]
chr11 GH11I117314 117314465 117317075 2.14 [{'connected_gene': 'BACE1', 'score': 557.33}, {'connected_gene': 'GC11M117315', 'score': 550.77}, {'connected_gene': 'GC11P117316', 'score': 550.77}, {'connected_gene': 'CEP164', 'score': 550.77}, {'connected_gene': 'ENSG00000250699', 'score': 0.39}]
chr11 GH11I118250 118250801 118253403 2.03 [{'connected_gene': 'MPZL3', 'score': 571.32}, {'connected_gene': 'VPS11', 'score': 12.48}, {'connected_gene': 'HINFP', 'score': 11.21}, {'connected_gene': 'MPZL2', 'score': 5.44}, {'connected_gene': 'BACE1', 'score': 4.9}, {'connected_gene': 'GC11M118231', 'score': 0.34}, {'connected_gene': 'PIR54688', 'score': 0.34}]
chr11 GH11I117287 117287405 117288394 0.31 [{'connected_gene': 'PIR36792', 'score': 550.77}, {'connected_gene': 'PIR60001', 'score': 550.77}, {'connected_gene': 'PIR31640', 'score': 550.77}, {'connected_gene': 'ENSG00000252992', 'score': 11.77}, {'connected_gene': 'PCSK7', 'score': 10.76}, {'connected_gene': 'RNF214', 'score': 10.76}, {'connected_gene': 'LOC653303', 'score': 8.31}, {'connected_gene': 'BACE1', 'score': 0.31}]
chr11 GH11I117284 117284878 117286369 0.2 [{'connected_gene': 'ENSG00000252992', 'score': 11.77}, {'connected_gene': 'RNF214', 'score': 10.82}, {'connected_gene': 'PCSK7', 'score': 10.82}, {'connected_gene': 'LOC653303', 'score': 7.87}, {'connected_gene': 'PIR36792', 'score': 0.77}, {'connected_gene': 'BACE1', 'score': 0.29}]
chr11 GH11I117303 117303965 117304114 0.38 [{'connected_gene': 'ENSG00000252992', 'score': 11.25}, {'connected_gene': 'ENSG00000276505', 'score': 0.44}, {'connected_gene': 'BACE1', 'score': 0.39}, {'connected_gene': 'CEP164', 'score': 0.39}]
chr11 GH11I117295 117295563 117295622 0.7 [{'connected_gene': 'ENSG00000276505', 'score': 550.77}, {'connected_gene': 'BACE1', 'score': 550.34}, {'connected_gene': 'GC11P117291', 'score': 0.77}]
chr11 GH11I117327 117327128 117329307 2.03 [{'connected_gene': 'ENSG00000250699', 'score': 550.77}, {'connected_gene': 'CEP164', 'score': 550.39}, {'connected_gene': 'RNF214', 'score': 24.82}, {'connected_gene': 'BUD13', 'score': 16.36}, {'connected_gene': 'ZPR1', 'score': 13.57}, {'connected_gene': 'PCSK7', 'score': 10.64}, {'connected_gene': 'ENSG00000252992', 'score': 10.55}, {'connected_gene': 'BACE1', 'score': 5.34}, {'connected_gene': 'GC11M117336', 'score': 0.44}]

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