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
ENST00000415389 [[183814851, 183815384], [183818272, 183818439], [183819272, 183819317], [183821969, 183822079], [183822574, 183822744], [183823054, 183823215], [183823552, 183823757], [183823915, 183824131], [183824251, 183824783]] [[183815317, 183815384], [183818272, 183818439], [183819272, 183819317], [183821969, 183822079], [183822574, 183822744], [183823054, 183823215], [183823552, 183823757], [183823915, 183824131], [183824251, 183824481]]
ENST00000425359 [[183815317, 183815384], [183818272, 183818439], [183821969, 183822079], [183822574, 183822744], [183823054, 183823215], [183823552, 183823757], [183823915, 183824131], [183824251, 183824481]] [[183815317, 183815384], [183818272, 183818439], [183821969, 183822079], [183822574, 183822744], [183823054, 183823215], [183823552, 183823757], [183823915, 183824131], [183824251, 183824481]]
ENST00000335304 [[183817966, 183818439], [183819272, 183819317], [183821969, 183822079], [183822574, 183822744], [183823054, 183823215], [183823552, 183823757], [183823915, 183824131], [183824251, 183824783]] [[183818160, 183818439], [183819272, 183819317], [183821969, 183822079], [183822574, 183822744], [183823054, 183823215], [183823552, 183823757], [183823915, 183824131], [183824251, 183824481]]
ENST00000431041 [[183818019, 183818104], [183818272, 183818439], [183819272, 183819317], [183821969, 183822079], [183822574, 183822744], [183823054, 183823182]] [[183818418, 183818439], [183819272, 183819317], [183821969, 183822079], [183822574, 183822744], [183823054, 183823182]]
ENST00000436361 [[183818160, 183818439], [183821969, 183822079], [183822574, 183822744], [183823054, 183823215], [183823552, 183823757], [183823915, 183824131], [183824251, 183824481]] [[183818160, 183818439], [183821969, 183822079], [183822574, 183822744], [183823054, 183823215], [183823552, 183823757], [183823915, 183824131], [183824251, 183824481]]
ENST00000440596 [[183818160, 183818439], [183821969, 183822157], [183822574, 183822744], [183823054, 183823215], [183823552, 183823757], [183823915, 183824131], [183824251, 183824481]] [[183818160, 183818439], [183821969, 183822157], [183822574, 183822744], [183823054, 183823215], [183823552, 183823757], [183823915, 183824131], [183824251, 183824481]]
NM_198313 [[183814851, 183815384], [183818272, 183818439], [183821969, 183822079], [183822574, 183822744], [183823054, 183823215], [183823552, 183823757], [183823915, 183824131], [183824251, 183824783]] [[183815317, 183815384], [183818272, 183818439], [183821969, 183822079], [183822574, 183822744], [183823054, 183823215], [183823552, 183823757], [183823915, 183824131], [183824251, 183824481]]
NM_001256613 [[183814851, 183815384], [183818272, 183818439], [183819272, 183819317], [183821969, 183822079], [183822574, 183822744], [183823054, 183823215], [183823552, 183823757], [183823915, 183824131], [183824251, 183824783]] [[183815317, 183815384], [183818272, 183818439], [183819272, 183819317], [183821969, 183822079], [183822574, 183822744], [183823054, 183823215], [183823552, 183823757], [183823915, 183824131], [183824251, 183824481]]
NM_198314 [[183817966, 183818439], [183821969, 183822079], [183822574, 183822744], [183823054, 183823215], [183823552, 183823757], [183823915, 183824131], [183824251, 183824783]] [[183818160, 183818439], [183821969, 183822079], [183822574, 183822744], [183823054, 183823215], [183823552, 183823757], [183823915, 183824131], [183824251, 183824481]]
NM_001256614 [[183817966, 183818439], [183821969, 183822157], [183822574, 183822744], [183823054, 183823215], [183823552, 183823757], [183823915, 183824131], [183824251, 183824783]] [[183818160, 183818439], [183821969, 183822157], [183822574, 183822744], [183823054, 183823215], [183823552, 183823757], [183823915, 183824131], [183824251, 183824481]]
NM_182589 [[183817966, 183818439], [183819272, 183819317], [183821969, 183822079], [183822574, 183822744], [183823054, 183823215], [183823552, 183823757], [183823915, 183824131], [183824251, 183824783]] [[183818160, 183818439], [183819272, 183819317], [183821969, 183822079], [183822574, 183822744], [183823054, 183823215], [183823552, 183823757], [183823915, 183824131], [183824251, 183824481]]
Promoter
Chrom Start End Description
chr3 183818343 183818347 CAGE_peak_1_at_HTR3E_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I184531 184531609 184531849 0.22 [{'connected_gene': 'CHRD', 'score': 12.08}, {'connected_gene': 'THPO', 'score': 12.08}, {'connected_gene': 'LINC01840', 'score': 11.45}, {'connected_gene': 'EPHB3', 'score': 11.43}, {'connected_gene': 'LINC02054', 'score': 11.12}, {'connected_gene': 'SNORD66', 'score': 10.56}, {'connected_gene': 'EIF4G1', 'score': 10.56}, {'connected_gene': 'FAM131A', 'score': 10.39}, {'connected_gene': 'HTR3E', 'score': 4.89}, {'connected_gene': 'HTR3D', 'score': 1.89}, {'connected_gene': 'LINC01839', 'score': 0.34}]
chr3 GH03I184096 184096996 184097055 0.61 [{'connected_gene': 'HTR3E', 'score': 550.77}, {'connected_gene': 'HTR3E-AS1', 'score': 0.44}, {'connected_gene': 'GC03M184087', 'score': 0.39}, {'connected_gene': 'ENSG00000207351', 'score': 0.39}]
chr3 GH03I184097 184097452 184097511 0.5 [{'connected_gene': 'HTR3E', 'score': 550.77}, {'connected_gene': 'HTR3E-AS1', 'score': 0.44}]
chr3 GH03I184100 184100639 184102300 0.2 [{'connected_gene': 'HTR3E', 'score': 0.77}, {'connected_gene': 'HTR3E-AS1', 'score': 0.77}]