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
ENST00000340811 [[32943678, 32945426], [32945577, 32945665], [32949042, 32949232], [32955336, 32955490], [32974289, 32974463], [32975400, 32975565], [32976978, 32977096], [32993961, 32994139], [33003699, 33003907], [33021860, 33021996], [33030779, 33031477], [33031853, 33031966], [33049442, 33049774]] [[32945357, 32945426], [32945577, 32945665], [32949042, 32949232], [32955336, 32955490], [32974289, 32974463], [32975400, 32975565], [32976978, 32977096], [32993961, 32994139], [33003699, 33003907], [33021860, 33021996], [33030779, 33031477], [33031853, 33031966], [33049442, 33049665]]
ENST00000070846 [[32943787, 32945426], [32945577, 32945665], [32949042, 32949232], [32955336, 32955490], [32974289, 32974463], [32975400, 32975565], [32976978, 32977096], [32993961, 32994139], [32996115, 32996247], [33003699, 33003907], [33021860, 33021996], [33030779, 33031477], [33031853, 33031966], [33049442, 33049690]] [[32945357, 32945426], [32945577, 32945665], [32949042, 32949232], [32955336, 32955490], [32974289, 32974463], [32975400, 32975565], [32976978, 32977096], [32993961, 32994139], [32996115, 32996247], [33003699, 33003907], [33021860, 33021996], [33030779, 33031477], [33031853, 33031966], [33049442, 33049665]]
ENST00000546769 [[32944876, 32945426], [32945577, 32945809]] None
ENST00000549461 [[32955383, 32955490], [32974289, 32974748]] None
ENST00000552612 [[32973822, 32974463], [32975400, 32975565], [32976978, 32977073]] None
ENST00000546498 [[32974400, 32974463], [32975400, 32975565], [32976978, 32977339]] None
ENST00000546741 [[33047216, 33047712], [33049442, 33049535]] None
NM_004572 [[32943679, 32945426], [32945577, 32945665], [32949042, 32949232], [32955336, 32955490], [32974289, 32974463], [32975400, 32975565], [32976978, 32977096], [32993961, 32994139], [32996115, 32996247], [33003699, 33003907], [33021860, 33021996], [33030779, 33031477], [33031853, 33031966], [33049442, 33049780]] [[32945357, 32945426], [32945577, 32945665], [32949042, 32949232], [32955336, 32955490], [32974289, 32974463], [32975400, 32975565], [32976978, 32977096], [32993961, 32994139], [32996115, 32996247], [33003699, 33003907], [33021860, 33021996], [33030779, 33031477], [33031853, 33031966], [33049442, 33049665]]
NM_001005242 [[32943679, 32945426], [32945577, 32945665], [32949042, 32949232], [32955336, 32955490], [32974289, 32974463], [32975400, 32975565], [32976978, 32977096], [32993961, 32994139], [33003699, 33003907], [33021860, 33021996], [33030779, 33031477], [33031853, 33031966], [33049442, 33049780]] [[32945357, 32945426], [32945577, 32945665], [32949042, 32949232], [32955336, 32955490], [32974289, 32974463], [32975400, 32975565], [32976978, 32977096], [32993961, 32994139], [33003699, 33003907], [33021860, 33021996], [33030779, 33031477], [33031853, 33031966], [33049442, 33049665]]
Promoter
Chrom Start End Description
chr12 32974355 32974372 CAGE_peak_3_at_PKP2_5end
chr12 32974714 32974725 CAGE_peak_13_at_PKP2_5end
chr12 32974731 32974751 CAGE_peak_6_at_PKP2_5end
chr12 32974753 32974763 CAGE_peak_11_at_PKP2_5end
chr12 32974766 32974775 CAGE_peak_16_at_PKP2_5end
chr12 32974832 32974843 CAGE_peak_9_at_PKP2_5end
chr12 33049691 33049756 CAGE_peak_1_at_PKP2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I032891 32891107 32899830 2.64 [{'connected_gene': 'PKP2', 'score': 560.81}, {'connected_gene': 'BICD1', 'score': 15.42}, {'connected_gene': 'DNM1L', 'score': 12.84}, {'connected_gene': 'LOC100420981', 'score': 10.08}, {'connected_gene': 'RPL35AP27', 'score': 0.29}]
chr12 GH12I032811 32811429 32812495 0.2 [{'connected_gene': 'PKP2', 'score': 4.76}, {'connected_gene': 'ENSG00000274976', 'score': 0.44}, {'connected_gene': 'YARS2', 'score': 0.22}]
chr12 GH12I032808 32808451 32810784 0.2 [{'connected_gene': 'PKP2', 'score': 4.75}, {'connected_gene': 'ENSG00000274976', 'score': 0.39}, {'connected_gene': 'YARS2', 'score': 0.23}]
chr12 GH12I032883 32883472 32884314 0.31 [{'connected_gene': 'PKP2', 'score': 0.39}, {'connected_gene': 'RPL35AP27', 'score': 0.34}]
chr12 GH12I032886 32886605 32888029 0.2 [{'connected_gene': 'PKP2', 'score': 0.44}, {'connected_gene': 'RPL35AP27', 'score': 0.34}]
chr12 GH12I032884 32884889 32885786 0.31 [{'connected_gene': 'PKP2', 'score': 0.39}, {'connected_gene': 'RPL35AP27', 'score': 0.34}]
chr12 GH12I032870 32870702 32871471 0.2 [{'connected_gene': 'PKP2', 'score': 12.23}, {'connected_gene': 'GC12P032861', 'score': 0.44}, {'connected_gene': 'RPL35AP27', 'score': 0.44}, {'connected_gene': 'GC12P032848', 'score': 0.34}]
chr12 GH12I032882 32882933 32883469 0.2 [{'connected_gene': 'PKP2', 'score': 0.39}, {'connected_gene': 'RPL35AP27', 'score': 0.34}]
chr12 GH12I032873 32873987 32876744 0.58 [{'connected_gene': 'PKP2', 'score': 17.25}, {'connected_gene': 'RPL35AP27', 'score': 0.39}]
chr12 GH12I032885 32885855 32886437 0.31 [{'connected_gene': 'PKP2', 'score': 0.39}, {'connected_gene': 'RPL35AP27', 'score': 0.34}]
chr12 GH12I032872 32872752 32873502 0.2 [{'connected_gene': 'PKP2', 'score': 12.26}, {'connected_gene': 'RPL35AP27', 'score': 0.39}]
chr12 GH12I032888 32888410 32890118 0.71 [{'connected_gene': 'PKP2', 'score': 0.44}, {'connected_gene': 'RPL35AP27', 'score': 0.31}]
chr12 GH12I032881 32880707 32880736 0.4 [{'connected_gene': 'PKP2', 'score': 0.37}, {'connected_gene': 'RPL35AP27', 'score': 0.37}]
chr12 GH12I032879 32879463 32880465 0.76 [{'connected_gene': 'PKP2', 'score': 0.37}, {'connected_gene': 'RPL35AP27', 'score': 0.37}]
chr12 GH12I032871 32871617 32872390 0.2 [{'connected_gene': 'PKP2', 'score': 12.26}, {'connected_gene': 'RPL35AP27', 'score': 0.44}]
chr12 GH12I032880 32880587 32880636 0.4 [{'connected_gene': 'PKP2', 'score': 0.37}, {'connected_gene': 'RPL35AP27', 'score': 0.37}]
chr12 GH12I032835 32835639 32837733 0.2 [{'connected_gene': 'PKP2', 'score': 11.52}, {'connected_gene': 'GC12P032848', 'score': 0.39}, {'connected_gene': 'ENSG00000274976', 'score': 0.37}]
chr12 GH12I032843 32843239 32844303 0.83 [{'connected_gene': 'PKP2', 'score': 11.54}, {'connected_gene': 'GC12P032848', 'score': 0.77}, {'connected_gene': 'ENSG00000274976', 'score': 0.34}]
chr12 GH12I032840 32840700 32842062 0.31 [{'connected_gene': 'PKP2', 'score': 11.53}, {'connected_gene': 'GC12P032848', 'score': 0.44}, {'connected_gene': 'ENSG00000274976', 'score': 0.34}]
chr12 GH12I032853 32853402 32855509 0.2 [{'connected_gene': 'PKP2', 'score': 12.24}, {'connected_gene': 'GC12P032848', 'score': 0.44}, {'connected_gene': 'GC12P032861', 'score': 0.44}]
chr12 GH12I032856 32856760 32857470 0.38 [{'connected_gene': 'PKP2', 'score': 16.59}, {'connected_gene': 'GC12P032861', 'score': 0.77}, {'connected_gene': 'GC12P032848', 'score': 0.44}]
chr12 GH12I032839 32839452 32840554 0.2 [{'connected_gene': 'PKP2', 'score': 11.53}, {'connected_gene': 'GC12P032848', 'score': 0.44}, {'connected_gene': 'ENSG00000274976', 'score': 0.37}]
chr12 GH12I032906 32906090 32907358 0.84 [{'connected_gene': 'PKP2', 'score': 0.44}, {'connected_gene': 'GC12P032918', 'score': 0.39}]
chr12 GH12I032900 32900936 32902769 0.63 [{'connected_gene': 'PKP2', 'score': 6.87}, {'connected_gene': 'GC12P032918', 'score': 0.37}]
chr12 GH12I032984 32984087 32984336 0.76 [{'connected_gene': 'ASS1P14', 'score': 550.77}, {'connected_gene': 'PKP2', 'score': 3.52}, {'connected_gene': 'GC12P032966', 'score': 0.37}]
chr12 GH12I032864 32864745 32865199 0.2 [{'connected_gene': 'RPL35AP27', 'score': 550.77}, {'connected_gene': 'GC12P032861', 'score': 0.77}, {'connected_gene': 'GC12P032848', 'score': 0.37}, {'connected_gene': 'PKP2', 'score': 0.29}]
chr12 GH12I032877 32877787 32877936 0.51 [{'connected_gene': 'RPL35AP27', 'score': 0.39}, {'connected_gene': 'PKP2', 'score': 0.37}]
chr12 GH12I032851 32851930 32852674 0.2 [{'connected_gene': 'GC12P032848', 'score': 0.77}, {'connected_gene': 'GC12P032861', 'score': 0.44}, {'connected_gene': 'PKP2', 'score': 0.26}]
chr12 GH12I032846 32846017 32848343 0.2 [{'connected_gene': 'GC12P032848', 'score': 550.77}, {'connected_gene': 'PKP2', 'score': 5.32}, {'connected_gene': 'ENSG00000274976', 'score': 0.31}]
chr12 GH12I032859 32859951 32860695 0.31 [{'connected_gene': 'GC12P032861', 'score': 550.77}, {'connected_gene': 'GC12P032848', 'score': 0.39}, {'connected_gene': 'PKP2', 'score': 0.28}]
chr12 GH12I032826 32826581 32827469 0.38 [{'connected_gene': 'ENSG00000274976', 'score': 0.44}, {'connected_gene': 'GC12P032848', 'score': 0.34}, {'connected_gene': 'PKP2', 'score': 0.2}]
chr12 GH12I032820 32820973 32822449 0.58 [{'connected_gene': 'ENSG00000274976', 'score': 550.77}, {'connected_gene': 'GC12P032848', 'score': 0.31}, {'connected_gene': 'PKP2', 'score': 0.18}]
chr12 GH12I032833 32833753 32835036 0.2 [{'connected_gene': 'ENSG00000274976', 'score': 0.39}, {'connected_gene': 'GC12P032848', 'score': 0.39}, {'connected_gene': 'PKP2', 'score': 0.21}]
chr12 GH12I032827 32827826 32830758 0.2 [{'connected_gene': 'ENSG00000274976', 'score': 0.44}, {'connected_gene': 'GC12P032848', 'score': 0.37}, {'connected_gene': 'PKP2', 'score': 0.2}]
chr12 GH12I032916 32916714 32922310 1.02 [{'connected_gene': 'GC12P032918', 'score': 550.77}, {'connected_gene': 'PKP2', 'score': 6.19}, {'connected_gene': 'GC12P032966', 'score': 0.25}]
chr12 GH12I032825 32825096 32826353 0.2 [{'connected_gene': 'ENSG00000274976', 'score': 0.44}, {'connected_gene': 'GC12P032848', 'score': 0.34}, {'connected_gene': 'PKP2', 'score': 0.19}]
chr12 GH12I032823 32823754 32824586 0.2 [{'connected_gene': 'ENSG00000274976', 'score': 0.77}, {'connected_gene': 'GC12P032848', 'score': 0.34}, {'connected_gene': 'PKP2', 'score': 0.19}]
chr12 GH12I032817 32817701 32818294 0.2 [{'connected_gene': 'ENSG00000274976', 'score': 0.77}, {'connected_gene': 'YARS2', 'score': 0.21}, {'connected_gene': 'PKP2', 'score': 0.18}]
chr12 GH12I032800 32800347 32800927 0.2 [{'connected_gene': 'ENSG00000274976', 'score': 0.37}, {'connected_gene': 'YARS2', 'score': 0.26}, {'connected_gene': 'PKP2', 'score': 0.15}]
chr12 GH12I032813 32813884 32814762 0.2 [{'connected_gene': 'ENSG00000274976', 'score': 0.44}, {'connected_gene': 'YARS2', 'score': 0.22}, {'connected_gene': 'PKP2', 'score': 0.18}]
chr12 GH12I032869 32869820 32870587 0.31 [{'connected_gene': 'GC12P032861', 'score': 0.44}, {'connected_gene': 'RPL35AP27', 'score': 0.44}, {'connected_gene': 'GC12P032848', 'score': 0.34}, {'connected_gene': 'PKP2', 'score': 0.31}]