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
ENST00000431809 [[560403, 560514], [561761, 561892], [562078, 562776], [563188, 563993]] [[561768, 561892], [562078, 562776], [563188, 563380]]
ENST00000397582 [[560955, 561033], [561761, 561892], [562078, 562776], [563188, 564012]] [[561768, 561892], [562078, 562776], [563188, 563380]]
ENST00000414138 [[560970, 561033], [561761, 561892], [562083, 562776], [563188, 563980]] [[561768, 561892], [562083, 562322]]
ENST00000524468 [[560986, 561033], [562078, 562456]] None
ENST00000344375 [[560998, 561033], [561761, 561892], [562078, 562776], [563188, 563317], [563395, 563478], [563557, 563645]] [[561768, 561892], [562078, 562776], [563188, 563317], [563395, 563478], [563557, 563645]]
ENST00000397583 [[561051, 561477], [561761, 561892], [562078, 562776], [563188, 563317], [563395, 563478], [563557, 564018]] [[561768, 561892], [562078, 562776], [563188, 563317], [563395, 563478], [563557, 563645]]
ENST00000454668 [[561449, 561477], [561761, 561892], [562078, 562776], [563188, 563317], [563557, 564021]] [[561768, 561892], [562078, 562776], [563188, 563317], [563557, 563569]]
ENST00000528736 [[561546, 561892], [562078, 562205]] [[561768, 561892], [562078, 562205]]
ENST00000531112 [[562384, 562776], [563188, 563478], [563557, 563685]] [[562384, 562776], [563188, 563380]]
NM_001143993 [[560970, 561033], [561761, 561892], [562078, 562776], [563188, 564025]] [[561768, 561892], [562078, 562776], [563188, 563380]]
NM_001143994 [[561449, 561477], [561761, 561892], [562078, 562776], [563188, 563317], [563557, 564025]] [[561768, 561892], [562078, 562776], [563188, 563317], [563557, 563569]]
NM_003475 [[561449, 561477], [561761, 561892], [562078, 562776], [563188, 563317], [563395, 563478], [563557, 564025]] [[561768, 561892], [562078, 562776], [563188, 563317], [563395, 563478], [563557, 563645]]
Promoter
Chrom Start End Description
chr11 560958 561046 CAGE_peak_1_at_RASSF7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I000559 559142 566688 2.21 [{'connected_gene': 'LMNTD2', 'score': 557.47}, {'connected_gene': 'RASSF7', 'score': 550.77}, {'connected_gene': 'GC11M000563', 'score': 550.77}, {'connected_gene': 'PHRF1', 'score': 15.36}, {'connected_gene': 'HRAS', 'score': 12.51}, {'connected_gene': 'TMEM80', 'score': 11.56}, {'connected_gene': 'PKP3', 'score': 5.27}, {'connected_gene': 'RNH1', 'score': 4.92}, {'connected_gene': 'PTDSS2', 'score': 4.43}, {'connected_gene': 'GC11M000576', 'score': 0.44}, {'connected_gene': 'GC11M000578', 'score': 0.44}, {'connected_gene': 'LOC692247', 'score': 0.44}, {'connected_gene': 'MIR210HG', 'score': 0.44}]
chr11 GH11I000514 514302 516144 0.58 [{'connected_gene': 'LOC105376507', 'score': 550.77}, {'connected_gene': 'RNH1', 'score': 18.43}, {'connected_gene': 'HRAS', 'score': 12.9}, {'connected_gene': 'LOC692247', 'score': 12.82}, {'connected_gene': 'RASSF7', 'score': 12.82}, {'connected_gene': 'LMNTD2', 'score': 12.81}, {'connected_gene': 'PTDSS2', 'score': 12.12}, {'connected_gene': 'SLC25A22', 'score': 11.01}, {'connected_gene': 'CEND1', 'score': 11.01}, {'connected_gene': 'PIDD1', 'score': 11.01}, {'connected_gene': 'RPLP2', 'score': 11.01}, {'connected_gene': 'ENSG00000255158', 'score': 10.57}, {'connected_gene': 'DRD4', 'score': 8.86}, {'connected_gene': 'LRRC56', 'score': 0.77}, {'connected_gene': 'GC11P000507', 'score': 0.44}]