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
ENST00000229135 [[68548547, 68549267], [68551692, 68551875], [68551970, 68552039], [68553281, 68553527]] [[68549132, 68549267], [68551692, 68551875], [68551970, 68552039], [68553281, 68553395]]
NM_000619 [[68548549, 68549267], [68551692, 68551875], [68551970, 68552039], [68553281, 68553521]] [[68549132, 68549267], [68551692, 68551875], [68551970, 68552039], [68553281, 68553395]]
Promoter
Chrom Start End Description
chr12 68553512 68553528 CAGE_peak_1_at_IFNG_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I068609 68609341 68616000 2.73 [{'connected_gene': 'RAP1B', 'score': 565.92}, {'connected_gene': 'NUP107', 'score': 39.87}, {'connected_gene': 'CPSF6', 'score': 15.45}, {'connected_gene': 'MDM2', 'score': 14.02}, {'connected_gene': 'KRT8P39', 'score': 11.91}, {'connected_gene': 'CPM', 'score': 11.42}, {'connected_gene': 'LINC02384', 'score': 11.17}, {'connected_gene': 'MDM1', 'score': 11.14}, {'connected_gene': 'RPL10P12', 'score': 11.07}, {'connected_gene': 'IFNG', 'score': 1.11}, {'connected_gene': 'GC12P068625', 'score': 0.39}]
chr12 GH12I068361 68361835 68368841 1.76 [{'connected_gene': 'NUP107', 'score': 27.3}, {'connected_gene': 'MDM1', 'score': 12.41}, {'connected_gene': 'LINC02384', 'score': 12.28}, {'connected_gene': 'SNORA70G', 'score': 11.76}, {'connected_gene': 'RPL10P12', 'score': 11.76}, {'connected_gene': 'CPSF6', 'score': 11.03}, {'connected_gene': 'KRT8P39', 'score': 10.96}, {'connected_gene': 'RPL7P42', 'score': 10.69}, {'connected_gene': 'LOC100507250', 'score': 10.69}, {'connected_gene': 'RAP1B', 'score': 4.96}, {'connected_gene': 'IFNG', 'score': 1.66}, {'connected_gene': 'ENSG00000256273', 'score': 0.34}, {'connected_gene': 'GC12P068422', 'score': 0.22}]
chr12 GH12I068079 68079969 68080165 0.2 [{'connected_gene': 'IFNG', 'score': 11.59}, {'connected_gene': 'GC12P068096', 'score': 0.37}, {'connected_gene': 'HNRNPA1P70', 'score': 0.26}, {'connected_gene': 'IFNG-AS1', 'score': 0.16}]
chr12 GH12I068163 68163599 68164058 0.46 [{'connected_gene': 'IFNG', 'score': 0.77}, {'connected_gene': 'LOC105369818', 'score': 0.29}, {'connected_gene': 'IL26', 'score': 0.21}, {'connected_gene': 'IFNG-AS1', 'score': 0.09}]
chr12 GH12I068080 68080455 68081159 0.38 [{'connected_gene': 'IFNG', 'score': 11.59}, {'connected_gene': 'IFNG-AS1', 'score': 5.82}, {'connected_gene': 'GC12P068096', 'score': 0.37}, {'connected_gene': 'HNRNPA1P70', 'score': 0.25}]
chr12 GH12I068372 68372795 68373447 1.11 [{'connected_gene': 'PRELID2P1', 'score': 5.49}, {'connected_gene': 'IFNG', 'score': 2.7}, {'connected_gene': 'RAP1B', 'score': 1.34}, {'connected_gene': 'ENSG00000256273', 'score': 0.31}, {'connected_gene': 'GC12P068422', 'score': 0.25}, {'connected_gene': 'LINC02384', 'score': 0.18}]
chr12 GH12I068174 68174993 68177904 0.83 [{'connected_gene': 'LINC02421', 'score': 14.32}, {'connected_gene': 'IL26', 'score': 10.32}, {'connected_gene': 'MDM1', 'score': 5.03}, {'connected_gene': 'LINC01479', 'score': 4.82}, {'connected_gene': 'IFNG', 'score': 0.37}, {'connected_gene': 'LOC105369818', 'score': 0.34}, {'connected_gene': 'IFNG-AS1', 'score': 0.09}]
chr12 GH12I068189 68189749 68190587 0.46 [{'connected_gene': 'LINC02421', 'score': 13.92}, {'connected_gene': 'IL26', 'score': 10.39}, {'connected_gene': 'LOC105369818', 'score': 0.44}, {'connected_gene': 'IFNG', 'score': 0.29}, {'connected_gene': 'IFNG-AS1', 'score': 0.08}]
chr12 GH12I068180 68180598 68182079 0.56 [{'connected_gene': 'LINC02421', 'score': 10.78}, {'connected_gene': 'LOC105369818', 'score': 0.37}, {'connected_gene': 'IFNG', 'score': 0.34}, {'connected_gene': 'IL26', 'score': 0.26}, {'connected_gene': 'IFNG-AS1', 'score': 0.08}]
chr12 GH12I067988 67988430 67993227 1.4 [{'connected_gene': 'IFNG-AS1', 'score': 567.46}, {'connected_gene': 'LINC01479', 'score': 10.47}, {'connected_gene': 'IFNG', 'score': 4.2}, {'connected_gene': 'IL22', 'score': 2.27}, {'connected_gene': 'DYRK2', 'score': 2.04}, {'connected_gene': 'GC12P067986', 'score': 0.77}, {'connected_gene': 'RPL39P28', 'score': 0.39}]
chr12 GH12I068480 68480924 68484293 1.48 [{'connected_gene': 'LINC02384', 'score': 31.56}, {'connected_gene': 'IFNG', 'score': 13.34}, {'connected_gene': 'NUP107', 'score': 6.4}, {'connected_gene': 'ENSG00000256917', 'score': 0.44}, {'connected_gene': 'PSMC6P2', 'score': 0.44}]
chr12 GH12I068159 68158561 68158710 0.46 [{'connected_gene': 'GC12M068159', 'score': 550.77}, {'connected_gene': 'IFNG', 'score': 550.77}, {'connected_gene': 'GC12M068160', 'score': 550.77}, {'connected_gene': 'GC12P068143', 'score': 0.37}, {'connected_gene': 'IFNG-AS1', 'score': 0.1}]
chr12 GH12I068158 68158902 68160355 1.06 [{'connected_gene': 'GC12M068159', 'score': 550.77}, {'connected_gene': 'IFNG', 'score': 550.77}, {'connected_gene': 'GC12M068160', 'score': 550.77}, {'connected_gene': 'GC12P068143', 'score': 0.37}, {'connected_gene': 'IFNG-AS1', 'score': 0.09}]