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
ENST00000184183 [[123687367, 123688068], [123688888, 123689064], [123694225, 123694387], [123695710, 123695828], [123699212, 123699451], [123700225, 123700271], [123710027, 123710199]] [[123688001, 123688068], [123688888, 123689064], [123694225, 123694387], [123695710, 123695828], [123699212, 123699328]]
ENST00000405845 [[123687861, 123688068], [123688888, 123689064], [123694225, 123694387], [123695710, 123695828], [123699212, 123699340], [123710768, 123710984]] [[123688001, 123688068], [123688888, 123689064], [123694225, 123694387], [123695710, 123695828], [123699212, 123699328]]
ENST00000487124 [[123693392, 123694387], [123695710, 123695828], [123699212, 123699340], [123710768, 123710930]] None
ENST00000467907 [[123694232, 123694387], [123695710, 123695828], [123699212, 123699451], [123700225, 123700271], [123710768, 123710893]] [[123694232, 123694387], [123695710, 123695828], [123699212, 123699328]]
ENST00000460743 [[123694272, 123694387], [123695710, 123695828], [123699212, 123699340], [123700225, 123700271], [123710027, 123710140], [123710768, 123710975]] [[123694272, 123694387], [123695710, 123695828], [123699212, 123699328]]
ENST00000496145 [[123695711, 123695828], [123699212, 123699340], [123700225, 123700271], [123710768, 123711025]] [[123695711, 123695828], [123699212, 123699328]]
ENST00000459660 [[123697521, 123699340], [123700225, 123700271], [123710890, 123710934]] [[123699151, 123699328]]
ENST00000479867 [[123697521, 123699340], [123710768, 123711005]] [[123699151, 123699328]]
ENST00000495093 [[123698263, 123699451], [123710768, 123710956]] [[123699151, 123699328]]
ENST00000484329 [[123699151, 123699451], [123700225, 123700271], [123710768, 123710988]] [[123699151, 123699328]]
NM_017578 [[123687861, 123688068], [123688888, 123689064], [123694225, 123694387], [123695710, 123695828], [123699212, 123699451], [123700225, 123700271], [123710027, 123710199]] [[123688001, 123688068], [123688888, 123689064], [123694225, 123694387], [123695710, 123695828], [123699212, 123699328]]
NM_001317774 [[123687861, 123688068], [123688888, 123689064], [123694225, 123694387], [123695710, 123695828], [123699212, 123699340], [123710768, 123711017]] [[123688001, 123688068], [123688888, 123689064], [123694225, 123694387], [123695710, 123695828], [123699212, 123699328]]
NM_001317775 [[123687861, 123688068], [123688888, 123689064], [123694225, 123694387], [123695710, 123695828], [123710768, 123711017]] [[123688001, 123688068], [123688888, 123689064], [123694225, 123694345]]
NR_133918 [[123697521, 123699451], [123700225, 123700271], [123710768, 123711017]] None
NR_133919 [[123697521, 123699451], [123710768, 123711017]] None
NR_133916 [[123697521, 123699340], [123710768, 123711017]] None
NR_133917 [[123697521, 123699340], [123700225, 123700271], [123710890, 123711017]] None

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I124032 124032104 124035000 1.09 [{'connected_gene': 'KALRN', 'score': 561.76}, {'connected_gene': 'SEC22A', 'score': 13.97}, {'connected_gene': 'ROPN1', 'score': 10.89}, {'connected_gene': 'UMPS', 'score': 10.32}, {'connected_gene': 'MIR5002', 'score': 0.15}]
chr3 GH03I123960 123960081 123962000 1.97 [{'connected_gene': 'CCDC14', 'score': 558.25}, {'connected_gene': 'ROPN1', 'score': 16.72}, {'connected_gene': 'MYLK', 'score': 0.18}]
chr3 GH03I123979 123979734 123980400 0.6 [{'connected_gene': 'CCDC14', 'score': 8.13}, {'connected_gene': 'ROPN1', 'score': 0.39}]
chr3 GH03I124232 124232815 124233918 0.2 [{'connected_gene': 'ROPN1', 'score': 9.59}, {'connected_gene': 'KALRN', 'score': 6.57}, {'connected_gene': 'PIR58041', 'score': 0.23}, {'connected_gene': 'MIR6083', 'score': 0.11}]
chr3 GH03I124075 124075697 124076780 0.2 [{'connected_gene': 'ROPN1', 'score': 9.65}, {'connected_gene': 'KALRN', 'score': 7.94}, {'connected_gene': 'MIR5002', 'score': 0.22}]
chr3 GH03I124078 124078770 124079320 0.43 [{'connected_gene': 'ROPN1', 'score': 9.62}, {'connected_gene': 'KALRN', 'score': 0.25}, {'connected_gene': 'MIR5002', 'score': 0.23}]
chr3 GH03I123949 123949549 123950383 0.31 [{'connected_gene': 'ROPN1', 'score': 9.95}, {'connected_gene': 'CCDC14', 'score': 0.39}, {'connected_gene': 'MYLK', 'score': 0.2}]
chr3 GH03I123990 123990130 123990189 0.5 [{'connected_gene': 'ROPN1', 'score': 550.77}, {'connected_gene': 'CCDC14', 'score': 0.31}]
chr3 GH03I123640 123640734 123640963 0.58 [{'connected_gene': 'ROPN1', 'score': 9.19}, {'connected_gene': 'HACD2', 'score': 5.3}, {'connected_gene': 'PIR59914', 'score': 0.44}, {'connected_gene': 'MYLK-AS2', 'score': 0.25}, {'connected_gene': 'MYLK-AS1', 'score': 0.22}, {'connected_gene': 'MYLK', 'score': 0.07}]
chr3 GH03I123732 123732034 123736524 1.15 [{'connected_gene': 'ROPN1', 'score': 9.57}, {'connected_gene': 'LOC105369194', 'score': 0.26}, {'connected_gene': 'GC03P123815', 'score': 0.18}, {'connected_gene': 'MYLK', 'score': 0.1}]
chr3 GH03I123691 123691534 123702401 1.12 [{'connected_gene': 'ROPN1', 'score': 4.61}, {'connected_gene': 'LOC105369194', 'score': 0.77}, {'connected_gene': 'MYLK-AS2', 'score': 0.44}, {'connected_gene': 'GC03P123815', 'score': 0.13}, {'connected_gene': 'MYLK', 'score': 0.09}]
chr3 GH03I124273 124273801 124274000 0.4 [{'connected_gene': 'ROPN1', 'score': 9.66}, {'connected_gene': 'PIR58041', 'score': 0.16}, {'connected_gene': 'MIR6083', 'score': 0.15}, {'connected_gene': 'KALRN', 'score': 0.07}]
chr3 GH03I124281 124281077 124286062 0.64 [{'connected_gene': 'ROPN1', 'score': 9.82}, {'connected_gene': 'MIR6083', 'score': 0.16}, {'connected_gene': 'PIR58041', 'score': 0.15}, {'connected_gene': 'KALRN', 'score': 0.07}]
chr3 GH03I124274 124274910 124279010 0.86 [{'connected_gene': 'ROPN1', 'score': 9.66}, {'connected_gene': 'PIR58041', 'score': 0.16}, {'connected_gene': 'MIR6083', 'score': 0.15}, {'connected_gene': 'KALRN', 'score': 0.07}]
chr3 GH03I124272 124272250 124273469 0.78 [{'connected_gene': 'ROPN1', 'score': 9.66}, {'connected_gene': 'PIR58041', 'score': 0.17}, {'connected_gene': 'MIR6083', 'score': 0.15}, {'connected_gene': 'KALRN', 'score': 0.07}]
chr3 GH03I124234 124234307 124236125 0.43 [{'connected_gene': 'ROPN1', 'score': 9.59}, {'connected_gene': 'PIR58041', 'score': 0.23}, {'connected_gene': 'MIR6083', 'score': 0.12}, {'connected_gene': 'KALRN', 'score': 0.08}]
chr3 GH03I123992 123992000 123992401 0.5 [{'connected_gene': 'ROPN1', 'score': 550.77}, {'connected_gene': 'GC03P124016', 'score': 0.34}]
chr3 GH03I123652 123652396 123654662 1.54 [{'connected_gene': 'MYLK', 'score': 13.38}, {'connected_gene': 'MYLK-AS2', 'score': 12.23}, {'connected_gene': 'HACD2', 'score': 10.77}, {'connected_gene': 'MYLK-AS1', 'score': 10.77}, {'connected_gene': 'ROPN1', 'score': 8.82}, {'connected_gene': 'PIR59914', 'score': 0.34}]
chr3 GH03I123641 123641112 123642917 1.33 [{'connected_gene': 'HACD2', 'score': 9.4}, {'connected_gene': 'ROPN1', 'score': 9.19}, {'connected_gene': 'PIR59914', 'score': 0.39}, {'connected_gene': 'MYLK-AS2', 'score': 0.25}, {'connected_gene': 'MYLK-AS1', 'score': 0.22}, {'connected_gene': 'MYLK', 'score': 0.07}]
chr3 GH03I123636 123636069 123638138 0.92 [{'connected_gene': 'HACD2', 'score': 17.7}, {'connected_gene': 'MYLK-AS2', 'score': 11.14}, {'connected_gene': 'MYLK', 'score': 10.97}, {'connected_gene': 'MYLK-AS1', 'score': 10.95}, {'connected_gene': 'ROPN1', 'score': 9.19}, {'connected_gene': 'PIR59914', 'score': 0.44}]
chr3 GH03I124384 124384801 124385000 0.4 [{'connected_gene': 'RNU6-143P', 'score': 12.31}, {'connected_gene': 'ROPN1', 'score': 9.16}, {'connected_gene': 'MIR6083', 'score': 0.39}, {'connected_gene': 'KALRN', 'score': 0.05}]
chr3 GH03I123655 123655349 123656680 0.38 [{'connected_gene': 'MYLK-AS2', 'score': 12.64}, {'connected_gene': 'MYLK', 'score': 12.43}, {'connected_gene': 'ROPN1', 'score': 9.68}, {'connected_gene': 'PIR59914', 'score': 0.31}]