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
ENST00000359019 [[77157367, 77158109], [77199096, 77199219], [77202822, 77202900], [77203492, 77203637], [77208925, 77208990], [77209636, 77209799], [77214837, 77214867]] [[77158062, 77158109], [77199096, 77199219], [77202822, 77202900], [77203492, 77203637], [77208925, 77208990], [77209636, 77209799], [77214837, 77214867]]
ENST00000334822 [[77157367, 77158109], [77191213, 77191317], [77199096, 77199219], [77202822, 77202900], [77203492, 77203637], [77208925, 77208990], [77209636, 77209799], [77216185, 77216311], [77220687, 77220830], [77222169, 77222272], [77235763, 77235886], [77236698, 77236761], [77239488, 77239582], [77240375, 77240459], [77242012, 77242170], [77243155, 77243250], [77244626, 77247474]] [[77158016, 77158109], [77191213, 77191317], [77199096, 77199219], [77202822, 77202900], [77203492, 77203637], [77208925, 77208990], [77209636, 77209799], [77216185, 77216311], [77220687, 77220830], [77222169, 77222272], [77235763, 77235886], [77236698, 77236761], [77239488, 77239582], [77240375, 77240459], [77242012, 77242170], [77243155, 77243250], [77244626, 77244765]]
ENST00000426126 [[77157367, 77158109], [77191213, 77191317], [77199096, 77199219], [77202822, 77202900], [77203492, 77203637], [77208925, 77208990], [77209636, 77209799], [77216185, 77216311], [77220687, 77220830], [77222169, 77222270], [77235761, 77235886], [77236698, 77236761], [77239488, 77239582], [77240375, 77240459], [77242012, 77242170], [77243155, 77243250], [77244626, 77247476]] [[77158016, 77158109], [77191213, 77191317], [77199096, 77199219], [77202822, 77202900], [77203492, 77203637], [77208925, 77208990], [77209636, 77209799], [77216185, 77216311], [77220687, 77220830], [77222169, 77222270], [77235761, 77235886], [77236698, 77236761], [77239488, 77239582], [77240375, 77240459], [77242012, 77242170], [77243155, 77243250], [77244626, 77244765]]
ENST00000546778 [[77157882, 77158109], [77199096, 77199219], [77202822, 77202900], [77203492, 77203637], [77208925, 77208990], [77209636, 77209799], [77214837, 77214947], [77216185, 77216311], [77220687, 77220796]] [[77158016, 77158109], [77199096, 77199111]]
ENST00000552453 [[77158023, 77158109], [77191213, 77191317], [77199096, 77199219], [77202822, 77202900], [77203492, 77203637], [77208925, 77208990], [77209677, 77209799], [77216185, 77216311], [77220687, 77220694]] [[77158023, 77158109], [77191213, 77191317], [77199096, 77199219], [77202822, 77202900], [77203492, 77203637], [77208925, 77208990], [77209677, 77209681]]
ENST00000547620 [[77158032, 77158109], [77175408, 77175463], [77191213, 77191317], [77199096, 77199219], [77202822, 77202900], [77203492, 77203622]] [[77158032, 77158109], [77175408, 77175463], [77191213, 77191215]]
ENST00000550876 [[77158033, 77158109], [77175404, 77175463], [77208925, 77208990], [77209636, 77209799], [77216185, 77216311], [77220687, 77220762]] [[77175409, 77175463], [77208925, 77208990], [77209636, 77209799], [77216185, 77216311], [77220687, 77220762]]
ENST00000551407 [[77158037, 77158109], [77162852, 77162981], [77191213, 77191317], [77199096, 77199219], [77202822, 77202900], [77203492, 77203530]] [[77158037, 77158109], [77162852, 77162888]]
ENST00000547604 [[77158037, 77158109], [77199096, 77199219], [77203492, 77203573]] [[77158037, 77158109], [77199096, 77199111]]
ENST00000550163 [[77158077, 77158109], [77199096, 77199219], [77202822, 77202900], [77203492, 77203637], [77208925, 77208990], [77209636, 77209799], [77216185, 77216309]] [[77158077, 77158109], [77199096, 77199209]]
ENST00000549682 [[77158352, 77158592], [77191213, 77191317], [77199096, 77199219], [77202822, 77202900], [77203492, 77203543]] [[77158568, 77158592], [77191213, 77191317], [77199096, 77199219], [77202822, 77202900], [77203492, 77203543]]
ENST00000549944 [[77191298, 77191317], [77199096, 77199219], [77202822, 77202900], [77203492, 77203637], [77207092, 77207229], [77208925, 77208990], [77209636, 77209799], [77216185, 77216270]] [[77191298, 77191317], [77199096, 77199219], [77202822, 77202900], [77203492, 77203637], [77207092, 77207194]]
ENST00000549010 [[77233838, 77234263], [77235804, 77235870]] None
ENST00000550789 [[77234170, 77234263], [77234744, 77234886], [77235804, 77235886], [77236698, 77236761], [77239488, 77239582], [77240375, 77240459], [77242012, 77242140]] None
ENST00000552693 [[77237693, 77239582], [77240375, 77240459], [77242012, 77242117]] None
ENST00000553091 [[77238654, 77238727], [77239488, 77239582], [77240375, 77240459], [77242012, 77242170], [77243155, 77243246]] None
ENST00000550244 [[77240070, 77240459], [77242012, 77242170], [77243155, 77243250], [77244626, 77245172]] None
ENST00000547673 [[77242017, 77242170], [77243155, 77243449]] None
NM_015336 [[77157853, 77158109], [77191213, 77191317], [77199096, 77199219], [77202822, 77202900], [77203492, 77203637], [77208925, 77208990], [77209636, 77209799], [77216185, 77216311], [77220687, 77220830], [77222169, 77222270], [77235761, 77235886], [77236698, 77236761], [77239488, 77239582], [77240375, 77240459], [77242012, 77242170], [77243155, 77243250], [77244626, 77247474]] [[77158016, 77158109], [77191213, 77191317], [77199096, 77199219], [77202822, 77202900], [77203492, 77203637], [77208925, 77208990], [77209636, 77209799], [77216185, 77216311], [77220687, 77220830], [77222169, 77222270], [77235761, 77235886], [77236698, 77236761], [77239488, 77239582], [77240375, 77240459], [77242012, 77242170], [77243155, 77243250], [77244626, 77244765]]
Promoter
Chrom Start End Description
chr12 77157772 77157775 CAGE_peak_5_at_ZDHHC17_5end
chr12 77157889 77157900 CAGE_peak_2_at_ZDHHC17_5end
chr12 77158021 77158045 CAGE_peak_1_at_ZDHHC17_5end
chr12 77158059 77158070 CAGE_peak_3_at_ZDHHC17_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I076860 76860208 76860761 0.2 [{'connected_gene': 'ZDHHC17', 'score': 5.82}, {'connected_gene': 'CSRP2', 'score': 0.37}, {'connected_gene': 'ENSG00000257910', 'score': 0.37}]
chr12 GH12I076857 76857303 76857691 0.22 [{'connected_gene': 'ZDHHC17', 'score': 10.29}, {'connected_gene': 'CSRP2', 'score': 4.54}, {'connected_gene': 'ENSG00000257910', 'score': 0.34}]
chr12 GH12I076862 76862723 76867941 0.66 [{'connected_gene': 'ZDHHC17', 'score': 6.36}, {'connected_gene': 'CSRP2', 'score': 4.6}, {'connected_gene': 'ENSG00000257910', 'score': 0.39}]
chr12 GH12I076687 76687120 76689045 0.63 [{'connected_gene': 'ZDHHC17', 'score': 10.52}, {'connected_gene': 'OSBPL8', 'score': 5.34}, {'connected_gene': 'LOC105369851', 'score': 0.34}, {'connected_gene': 'PIR46759', 'score': 0.31}]
chr12 GH12I076685 76685186 76685755 0.51 [{'connected_gene': 'ZDHHC17', 'score': 11.16}, {'connected_gene': 'OSBPL8', 'score': 4.74}, {'connected_gene': 'LOC105369851', 'score': 0.34}, {'connected_gene': 'PIR46759', 'score': 0.31}]
chr12 GH12I076518 76518801 76519010 0.43 [{'connected_gene': 'ZDHHC17', 'score': 9.82}, {'connected_gene': 'GC12P076505', 'score': 0.39}, {'connected_gene': 'GC12M076540', 'score': 0.34}, {'connected_gene': 'OSBPL8', 'score': 0.26}]
chr12 GH12I076703 76703559 76704884 0.43 [{'connected_gene': 'ZDHHC17', 'score': 10.99}, {'connected_gene': 'PIR46759', 'score': 0.39}, {'connected_gene': 'LOC105369851', 'score': 0.28}]
chr12 GH12I075857 75857900 75860802 0.38 [{'connected_gene': 'ZDHHC17', 'score': 4.41}, {'connected_gene': 'ENSG00000258091', 'score': 0.2}, {'connected_gene': 'LOC105369846', 'score': 0.18}, {'connected_gene': 'ENSG00000258077', 'score': 0.13}]
chr12 GH12I076637 76637861 76638010 0.31 [{'connected_gene': 'ZDHHC17', 'score': 10.45}, {'connected_gene': 'GC12P076641', 'score': 0.77}, {'connected_gene': 'YWHAQP7', 'score': 0.37}, {'connected_gene': 'LOC105369851', 'score': 0.31}]
chr12 GH12I076777 76777126 76778650 1.05 [{'connected_gene': 'ZDHHC17', 'score': 6.45}, {'connected_gene': 'ENSG00000257910', 'score': 0.15}]
chr12 GH12I076781 76781124 76786407 0.97 [{'connected_gene': 'ZDHHC17', 'score': 12.14}, {'connected_gene': 'ENSG00000257910', 'score': 0.16}]
chr12 GH12I076767 76767401 76768000 0.38 [{'connected_gene': 'ZDHHC17', 'score': 0.77}, {'connected_gene': 'ENSG00000257910', 'score': 0.14}]
chr12 GH12I076787 76787101 76787250 0.71 [{'connected_gene': 'ZDHHC17', 'score': 12.14}, {'connected_gene': 'ENSG00000257910', 'score': 0.16}]
chr12 GH12I076791 76791081 76791230 0.63 [{'connected_gene': 'ZDHHC17', 'score': 11.91}, {'connected_gene': 'ENSG00000257910', 'score': 0.17}]
chr12 GH12I076809 76809991 76811646 0.2 [{'connected_gene': 'ZDHHC17', 'score': 6.3}, {'connected_gene': 'ENSG00000257910', 'score': 0.2}]
chr12 GH12I076766 76766801 76767000 0.38 [{'connected_gene': 'ZDHHC17', 'score': 0.77}, {'connected_gene': 'ENSG00000257910', 'score': 0.14}]
chr12 GH12I076804 76804184 76805034 0.54 [{'connected_gene': 'ZDHHC17', 'score': 14.89}, {'connected_gene': 'ENSG00000257910', 'score': 0.19}]
chr12 GH12I076768 76768721 76768870 0.43 [{'connected_gene': 'ZDHHC17', 'score': 0.44}, {'connected_gene': 'ENSG00000257910', 'score': 0.14}]
chr12 GH12I076762 76762287 76765952 1.56 [{'connected_gene': 'ZDHHC17', 'score': 557.22}, {'connected_gene': 'ENSG00000257910', 'score': 0.14}]
chr12 GH12I076872 76872481 76872670 0.49 [{'connected_gene': 'CSRP2', 'score': 0.44}, {'connected_gene': 'ENSG00000257910', 'score': 0.44}, {'connected_gene': 'ZDHHC17', 'score': 0.14}]
chr12 GH12I076871 76871109 76871510 0.71 [{'connected_gene': 'CSRP2', 'score': 0.44}, {'connected_gene': 'ENSG00000257910', 'score': 0.44}, {'connected_gene': 'ZDHHC17', 'score': 0.14}]
chr12 GH12I076874 76874608 76874790 0.38 [{'connected_gene': 'CSRP2', 'score': 0.77}, {'connected_gene': 'ENSG00000257910', 'score': 0.77}, {'connected_gene': 'ZDHHC17', 'score': 0.14}]
chr12 GH12I076526 76526068 76526496 0.39 [{'connected_gene': 'OSBPL8', 'score': 9.16}, {'connected_gene': 'ZDHHC17', 'score': 3.11}, {'connected_gene': 'GC12M076540', 'score': 0.39}, {'connected_gene': 'GC12P076505', 'score': 0.34}]
chr12 GH12I076664 76664181 76667000 0.94 [{'connected_gene': 'LOC105369851', 'score': 550.77}, {'connected_gene': 'ZDHHC17', 'score': 11.21}, {'connected_gene': 'OSBPL8', 'score': 4.72}, {'connected_gene': 'PIR46759', 'score': 0.25}]
chr12 GH12I076144 76144201 76144400 0.78 [{'connected_gene': 'LOC100652897', 'score': 26.02}, {'connected_gene': 'KRR1', 'score': 16.53}, {'connected_gene': 'GLIPR1L1', 'score': 14.16}, {'connected_gene': 'CAPS2', 'score': 12.37}, {'connected_gene': 'ZDHHC17', 'score': 11.88}, {'connected_gene': 'BBS10', 'score': 11.21}, {'connected_gene': 'RPL21P98', 'score': 10.26}, {'connected_gene': 'GC12P076140', 'score': 0.77}, {'connected_gene': 'LINC02407', 'score': 0.13}]
chr12 GH12I076569 76569819 76570022 0.46 [{'connected_gene': 'GC12P076571', 'score': 550.77}, {'connected_gene': 'OSBPL8', 'score': 8.1}, {'connected_gene': 'ZDHHC17', 'score': 1.54}, {'connected_gene': 'ENSG00000257526', 'score': 0.44}, {'connected_gene': 'LOC105369850', 'score': 0.39}]
chr12 GH12I076556 76556167 76556610 0.78 [{'connected_gene': 'GC12P076557', 'score': 550.77}, {'connected_gene': 'OSBPL8', 'score': 6.94}, {'connected_gene': 'ZDHHC17', 'score': 1.46}, {'connected_gene': 'GC12M076540', 'score': 0.37}]
chr12 GH12I076718 76718794 76721211 0.87 [{'connected_gene': 'GC12P076722', 'score': 550.77}, {'connected_gene': 'RPL7P43', 'score': 550.77}, {'connected_gene': 'ZDHHC17', 'score': 11.02}, {'connected_gene': 'PIR46759', 'score': 0.44}]