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
ENST00000488497 [[142720009, 142720515], [142729656, 142729701], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142735817], [142738810, 142738878], [142739440, 142739535], [142740191, 142740227], [142740314, 142740397], [142741338, 142741504], [142741694, 142741906], [142745990, 142746095], [142747181, 142747248], [142747324, 142747488], [142751625, 142751788], [142752112, 142752192], [142753729, 142753817], [142754823, 142754946], [142756020, 142756177], [142756949, 142757045], [142757735, 142757802], [142761958, 142762118], [142769780, 142769891], [142772517, 142772636], [142773784, 142773961], [142775153, 142775342]] [[142720470, 142720515], [142729656, 142729701], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142735817], [142738810, 142738878], [142739440, 142739535], [142740191, 142740227], [142740314, 142740397], [142741338, 142741504], [142741694, 142741906], [142745990, 142746038]]
ENST00000397933 [[142720371, 142720515], [142729656, 142729701], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142735817], [142738810, 142738878], [142739440, 142739535], [142740191, 142740227], [142740314, 142740397], [142741338, 142741504], [142741694, 142741906], [142745990, 142746095], [142747181, 142747248], [142747324, 142747488], [142751625, 142751788], [142752112, 142752192], [142753729, 142753817], [142754823, 142754946], [142756020, 142756177], [142756949, 142757045], [142757735, 142757802], [142761958, 142762118], [142769780, 142769891], [142772517, 142772636], [142773784, 142773961], [142775153, 142779567]] [[142741859, 142741906], [142745990, 142746095], [142747181, 142747248], [142747324, 142747488], [142751625, 142751788], [142752112, 142752192], [142753729, 142753817], [142754823, 142754946], [142756020, 142756177], [142756949, 142757045], [142757735, 142757802], [142761958, 142762118], [142769780, 142769891], [142772517, 142772636], [142773784, 142773961], [142775153, 142775292]]
ENST00000473835 [[142720380, 142720515], [142729656, 142729701], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142735817], [142738810, 142738878], [142739440, 142739535], [142740191, 142740227], [142740314, 142740397], [142741338, 142741504], [142741694, 142741906], [142742816, 142742860], [142745990, 142746095], [142747181, 142747248], [142747324, 142747488], [142751625, 142751788], [142752112, 142752192], [142753729, 142753817], [142754823, 142754946], [142756020, 142756177], [142756949, 142757045], [142757735, 142757802], [142761958, 142762118], [142769780, 142769891], [142772517, 142772636], [142773784, 142773961], [142775153, 142779388]] [[142720470, 142720515], [142729656, 142729701], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142735817], [142738810, 142738878], [142739440, 142739535], [142740191, 142740227], [142740314, 142740397], [142741338, 142741504], [142741694, 142741906], [142742816, 142742860], [142745990, 142746095], [142747181, 142747248], [142747324, 142747488], [142751625, 142751788], [142752112, 142752192], [142753729, 142753817], [142754823, 142754946], [142756020, 142756177], [142756949, 142757045], [142757735, 142757802], [142761958, 142762118], [142769780, 142769891], [142772517, 142772636], [142773784, 142773961], [142775153, 142775292]]
ENST00000461591 [[142720451, 142720515], [142729656, 142729701], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142735817], [142738810, 142738878], [142739440, 142739535], [142740191, 142740227], [142740314, 142740397], [142741338, 142741504], [142741694, 142742237]] None
ENST00000493598 [[142720462, 142720515], [142729656, 142729701], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142735817], [142738810, 142738878], [142739440, 142739535], [142740191, 142740224], [142740314, 142740397], [142741338, 142741504], [142741694, 142741906], [142742816, 142742860], [142745990, 142746095], [142747181, 142747252], [142747328, 142747488], [142751625, 142751788], [142752112, 142752192], [142753729, 142753817], [142754823, 142754946], [142756020, 142756177], [142756949, 142757045], [142757735, 142757802], [142761958, 142762118], [142769780, 142769891], [142772517, 142772636], [142773784, 142773961], [142775153, 142775688]] [[142720470, 142720515], [142729656, 142729701], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142735817], [142738810, 142738878], [142739440, 142739535], [142740191, 142740224], [142740314, 142740397], [142741338, 142741504], [142741694, 142741906], [142742816, 142742860], [142745990, 142746095], [142747181, 142747252], [142747328, 142747488], [142751625, 142751788], [142752112, 142752192], [142753729, 142753817], [142754823, 142754946], [142756020, 142756177], [142756949, 142757045], [142757735, 142757802], [142761958, 142762118], [142769780, 142769891], [142772517, 142772636], [142773784, 142773961], [142775153, 142775292]]
ENST00000463563 [[142720464, 142720515], [142729656, 142729701], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142735817], [142738810, 142738878], [142739440, 142739535], [142740191, 142740227], [142740314, 142740397], [142741338, 142741504], [142741694, 142741906], [142742816, 142742860], [142743325, 142743390], [142745990, 142746095], [142747181, 142747248], [142747324, 142747488], [142751625, 142751788], [142752112, 142752192], [142753729, 142753817], [142754823, 142754946], [142756020, 142756177], [142756949, 142757045], [142757735, 142757802], [142761958, 142762118], [142769780, 142769891], [142772517, 142772636], [142773784, 142773961], [142775153, 142776495]] [[142720464, 142720515], [142729656, 142729701], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142735817], [142738810, 142738878], [142739440, 142739535], [142740191, 142740227], [142740314, 142740397], [142741338, 142741504], [142741694, 142741906], [142742816, 142742860], [142743325, 142743365]]
ENST00000470400 [[142720468, 142720515], [142729656, 142729701], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142735817], [142738810, 142738878], [142739440, 142739535], [142740191, 142740224], [142740314, 142740427]] None
ENST00000488587 [[142735733, 142735817], [142738810, 142738878], [142739440, 142739535], [142740191, 142740227], [142740314, 142740397], [142741338, 142741504], [142741694, 142741906], [142745990, 142746112]] None
ENST00000600150 [[142683338, 142683478], [142712838, 142712982], [142717241, 142717336], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213]] [[142717306, 142717336], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213]]
ENST00000493782 [[142720365, 142720515], [142729656, 142729701], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142735730]] [[142720470, 142720515], [142729656, 142729701], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142735730]]
ENST00000465175 [[142721069, 142721203], [142729656, 142729701], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142735729]] [[142731063, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142735729]]
ENST00000485374 [[142730780, 142730865], [142731063, 142731215], [142733152, 142733251], [142735098, 142735213], [142735683, 142735702]] [[142730780, 142730865], [142731063, 142731215], [142733152, 142733198]]
ENST00000491827 [[142731094, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142736192]] None
ENST00000480029 [[142744623, 142746095], [142747181, 142747248], [142747324, 142747488], [142751625, 142751788], [142752112, 142752192], [142753729, 142753817], [142754823, 142754946], [142756020, 142756177], [142756949, 142757045], [142757735, 142757802], [142761958, 142762118], [142769780, 142769891], [142772517, 142772624]] [[142746015, 142746095], [142747181, 142747248], [142747324, 142747488], [142751625, 142751788], [142752112, 142752192], [142753729, 142753817], [142754823, 142754946], [142756020, 142756177], [142756949, 142757045], [142757735, 142757802], [142761958, 142762118], [142769780, 142769891], [142772517, 142772624]]
ENST00000472373 [[142745403, 142746095], [142747181, 142747248], [142747324, 142747488], [142751625, 142751788], [142752112, 142752192], [142753729, 142753745]] None
ENST00000496100 [[142753368, 142753817], [142754823, 142754914]] None
ENST00000467348 [[142754924, 142754946], [142756020, 142756177], [142756949, 142757045], [142757735, 142757802], [142761958, 142762118], [142769780, 142769891], [142772517, 142772636], [142775153, 142775688]] [[142754924, 142754946], [142756020, 142756177], [142756949, 142757045], [142757735, 142757802], [142761958, 142762118], [142769780, 142769891], [142772517, 142772636], [142775153, 142775292]]
ENST00000461844 [[142755720, 142756177], [142756949, 142757048]] None
NM_001320219 [[142720371, 142720515], [142729656, 142729701], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142735817], [142738810, 142738878], [142739440, 142739535], [142740191, 142740224], [142740314, 142740397], [142741338, 142741504], [142741694, 142741906], [142742816, 142742860], [142745990, 142746095], [142747181, 142747248], [142747324, 142747488], [142751625, 142751788], [142752112, 142752192], [142753729, 142753817], [142754823, 142754946], [142756020, 142756177], [142756949, 142757045], [142757735, 142757802], [142761958, 142762118], [142769780, 142769891], [142772517, 142772636], [142773784, 142773961], [142775153, 142779567]] [[142720470, 142720515], [142729656, 142729701], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142735817], [142738810, 142738878], [142739440, 142739535], [142740191, 142740224], [142740314, 142740397], [142741338, 142741504], [142741694, 142741906], [142742816, 142742860], [142745990, 142746095], [142747181, 142747248], [142747324, 142747488], [142751625, 142751788], [142752112, 142752192], [142753729, 142753817], [142754823, 142754946], [142756020, 142756177], [142756949, 142757045], [142757735, 142757802], [142761958, 142762118], [142769780, 142769891], [142772517, 142772636], [142773784, 142773961], [142775153, 142775292]]
NM_001320220 [[142720371, 142720515], [142729656, 142729701], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142735817], [142738810, 142738878], [142739440, 142739535], [142740191, 142740227], [142740314, 142740397], [142741338, 142741504], [142741694, 142741906], [142745990, 142746095], [142747181, 142747248], [142747324, 142747488], [142751625, 142751788], [142752112, 142752192], [142753729, 142753817], [142754823, 142754946], [142756020, 142756177], [142756949, 142757045], [142757735, 142757802], [142761958, 142762118], [142769780, 142769891], [142772517, 142772636], [142773784, 142773961], [142775153, 142779567]] [[142741859, 142741906], [142745990, 142746095], [142747181, 142747248], [142747324, 142747488], [142751625, 142751788], [142752112, 142752192], [142753729, 142753817], [142754823, 142754946], [142756020, 142756177], [142756949, 142757045], [142757735, 142757802], [142761958, 142762118], [142769780, 142769891], [142772517, 142772636], [142773784, 142773961], [142775153, 142775292]]
NM_001080415 [[142720371, 142720515], [142729656, 142729701], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142735817], [142738810, 142738878], [142739440, 142739535], [142740191, 142740227], [142740314, 142740397], [142741338, 142741504], [142741694, 142741906], [142742816, 142742860], [142745990, 142746095], [142747181, 142747248], [142747324, 142747488], [142751625, 142751788], [142752112, 142752192], [142753729, 142753817], [142754823, 142754946], [142756020, 142756177], [142756949, 142757045], [142757735, 142757802], [142761958, 142762118], [142769780, 142769891], [142772517, 142772636], [142773784, 142773961], [142775153, 142779567]] [[142720470, 142720515], [142729656, 142729701], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142735817], [142738810, 142738878], [142739440, 142739535], [142740191, 142740227], [142740314, 142740397], [142741338, 142741504], [142741694, 142741906], [142742816, 142742860], [142745990, 142746095], [142747181, 142747248], [142747324, 142747488], [142751625, 142751788], [142752112, 142752192], [142753729, 142753817], [142754823, 142754946], [142756020, 142756177], [142756949, 142757045], [142757735, 142757802], [142761958, 142762118], [142769780, 142769891], [142772517, 142772636], [142773784, 142773961], [142775153, 142775292]]
NM_001320222 [[142720371, 142720515], [142729656, 142729701], [142731063, 142731195], [142733152, 142733251], [142735098, 142735213], [142735683, 142735817], [142738810, 142738878], [142739440, 142739535], [142740191, 142740227], [142740314, 142740397], [142741338, 142741504], [142741694, 142741906], [142742816, 142742860], [142743325, 142743390], [142745990, 142746095], [142747181, 142747248], [142747324, 142747488], [142751625, 142751788], [142752112, 142752192], [142753729, 142753817], [142754823, 142754946], [142756020, 142756177], [142756949, 142757045], [142757735, 142757802], [142761958, 142762118], [142769780, 142769891], [142772517, 142772636], [142773784, 142773961], [142775153, 142779567]] [[142746015, 142746095], [142747181, 142747248], [142747324, 142747488], [142751625, 142751788], [142752112, 142752192], [142753729, 142753817], [142754823, 142754946], [142756020, 142756177], [142756949, 142757045], [142757735, 142757802], [142761958, 142762118], [142769780, 142769891], [142772517, 142772636], [142773784, 142773961], [142775153, 142775292]]
Promoter
Chrom Start End Description
chr3 142720404 142720475 CAGE_peak_1_at_U2SURP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I143118 143118593 143124105 1.98 [{'connected_gene': 'CHST2', 'score': 559.26}, {'connected_gene': 'U2SURP', 'score': 31.51}, {'connected_gene': 'XRN1', 'score': 27.46}, {'connected_gene': 'ATR', 'score': 23.82}, {'connected_gene': 'PBX2P1', 'score': 13.24}, {'connected_gene': 'GK5', 'score': 10.33}, {'connected_gene': 'ENSG00000241679', 'score': 9.2}, {'connected_gene': 'LOC105374137', 'score': 0.39}]
chr3 GH03I142316 142316039 142316168 0.93 [{'connected_gene': 'TRPC1', 'score': 12.55}, {'connected_gene': 'U2SURP', 'score': 11.56}, {'connected_gene': 'RNU1-100P', 'score': 10.09}, {'connected_gene': 'PIR51844', 'score': 0.29}, {'connected_gene': 'PIR32306', 'score': 0.21}, {'connected_gene': 'XRN1', 'score': 0.12}]
chr3 GH03I142444 142444927 142449105 2.36 [{'connected_gene': 'XRN1', 'score': 573.18}, {'connected_gene': 'PBX2P1', 'score': 13.42}, {'connected_gene': 'ATR', 'score': 12.85}, {'connected_gene': 'RNU1-100P', 'score': 11.2}, {'connected_gene': 'U2SURP', 'score': 10.94}, {'connected_gene': 'RASA2', 'score': 10.85}, {'connected_gene': 'GC03M142421', 'score': 0.31}]
chr3 GH03I143182 143182737 143184236 1.3 [{'connected_gene': 'PBX2P1', 'score': 13.83}, {'connected_gene': 'XRN1', 'score': 13.3}, {'connected_gene': 'ATR', 'score': 12.76}, {'connected_gene': 'U2SURP', 'score': 10.98}, {'connected_gene': 'ENSG00000240888', 'score': 0.12}]
chr3 GH03I143164 143164002 143166399 1.21 [{'connected_gene': 'PBX2P1', 'score': 15.66}, {'connected_gene': 'XRN1', 'score': 12.39}, {'connected_gene': 'U2SURP', 'score': 10.9}, {'connected_gene': 'LOC105374137', 'score': 0.29}]
chr3 GH03I142576 142576713 142580149 2.12 [{'connected_gene': 'ATR', 'score': 557.36}, {'connected_gene': 'PBX2P1', 'score': 35.79}, {'connected_gene': 'XRN1', 'score': 30.35}, {'connected_gene': 'GK5', 'score': 10.88}, {'connected_gene': 'U2SURP', 'score': 10.23}, {'connected_gene': 'SUCLG2P1', 'score': 0.25}]
chr3 GH03I142222 142222600 142226200 2.03 [{'connected_gene': 'GK5', 'score': 559.8}, {'connected_gene': 'U2SURP', 'score': 20.74}, {'connected_gene': 'PBX2P1', 'score': 13.42}, {'connected_gene': 'XRN1', 'score': 13.35}, {'connected_gene': 'ATR', 'score': 12.78}, {'connected_gene': 'TRPC1', 'score': 12.54}, {'connected_gene': 'RASA2', 'score': 10.85}, {'connected_gene': 'TFDP2', 'score': 0.19}]
chr3 GH03I143442 143442454 143445873 1.57 [{'connected_gene': 'U2SURP', 'score': 22.76}, {'connected_gene': 'ATR', 'score': 12.83}, {'connected_gene': 'XRN1', 'score': 10.16}, {'connected_gene': 'CHST2', 'score': 9.59}, {'connected_gene': 'GC03M143367', 'score': 0.39}, {'connected_gene': 'SLC9A9-AS2', 'score': 0.21}, {'connected_gene': 'SLC9A9', 'score': 0.05}]
chr3 GH03I142962 142962186 142964508 1.89 [{'connected_gene': 'U2SURP', 'score': 563.18}, {'connected_gene': 'PAQR9', 'score': 550.77}, {'connected_gene': 'ATR', 'score': 11.03}, {'connected_gene': 'GC03P142958', 'score': 0.77}, {'connected_gene': 'PAQR9-AS1', 'score': 0.77}]
chr3 GH03I143070 143070617 143072187 0.63 [{'connected_gene': 'U2SURP', 'score': 6.49}, {'connected_gene': 'LOC105374138', 'score': 0.39}, {'connected_gene': 'GC03M142971', 'score': 0.28}]
chr3 GH03I142997 142997309 143003533 2.3 [{'connected_gene': 'U2SURP', 'score': 568.2}, {'connected_gene': 'LOC100289361', 'score': 550.77}, {'connected_gene': 'XRN1', 'score': 34.43}, {'connected_gene': 'PBX2P1', 'score': 27.86}, {'connected_gene': 'ATR', 'score': 18.15}, {'connected_gene': 'ST13P15', 'score': 11.78}, {'connected_gene': 'PAQR9-AS1', 'score': 11.44}, {'connected_gene': 'PAQR9', 'score': 11.44}, {'connected_gene': 'TFDP2', 'score': 11.04}, {'connected_gene': 'LOC100507389', 'score': 10.84}, {'connected_gene': 'PLS1', 'score': 10.45}, {'connected_gene': 'RNA5SP143', 'score': 10.45}, {'connected_gene': 'GC03M142971', 'score': 0.28}]
chr3 GH03I143003 143003802 143004599 0.46 [{'connected_gene': 'U2SURP', 'score': 6.56}, {'connected_gene': 'LOC100289361', 'score': 0.77}, {'connected_gene': 'GC03M142971', 'score': 0.29}]
chr3 GH03I143084 143084699 143085610 1.43 [{'connected_gene': 'LOC105374138', 'score': 550.77}, {'connected_gene': 'PBX2P1', 'score': 16.62}, {'connected_gene': 'XRN1', 'score': 13.3}, {'connected_gene': 'ATR', 'score': 12.76}, {'connected_gene': 'U2SURP', 'score': 11.03}, {'connected_gene': 'ENSG00000243733', 'score': 0.31}]
chr3 GH03I142994 142994079 142994248 0.78 [{'connected_gene': 'PAQR9-AS1', 'score': 11.45}, {'connected_gene': 'PAQR9', 'score': 11.45}, {'connected_gene': 'LOC100507389', 'score': 10.86}, {'connected_gene': 'PLS1', 'score': 10.45}, {'connected_gene': 'RNA5SP143', 'score': 10.45}, {'connected_gene': 'LOC100289361', 'score': 0.44}, {'connected_gene': 'U2SURP', 'score': 0.31}, {'connected_gene': 'GC03M142971', 'score': 0.26}]
chr3 GH03I142987 142987800 142988001 0.49 [{'connected_gene': 'LOC100507389', 'score': 11.62}, {'connected_gene': 'PAQR9', 'score': 11.56}, {'connected_gene': 'PAQR9-AS1', 'score': 11.53}, {'connected_gene': 'PLS1', 'score': 10.72}, {'connected_gene': 'RNA5SP143', 'score': 10.72}, {'connected_gene': 'LOC100289361', 'score': 0.39}, {'connected_gene': 'U2SURP', 'score': 0.34}, {'connected_gene': 'GC03M142971', 'score': 0.25}]
chr3 GH03I142988 142987001 142987200 0.65 [{'connected_gene': 'LOC100507389', 'score': 11.62}, {'connected_gene': 'PAQR9', 'score': 11.56}, {'connected_gene': 'PAQR9-AS1', 'score': 11.53}, {'connected_gene': 'PLS1', 'score': 10.72}, {'connected_gene': 'RNA5SP143', 'score': 10.72}, {'connected_gene': 'LOC100289361', 'score': 0.39}, {'connected_gene': 'U2SURP', 'score': 0.34}, {'connected_gene': 'GC03M142971', 'score': 0.25}]
chr3 GH03I142976 142976199 142977731 1.23 [{'connected_gene': 'LOC100507389', 'score': 11.41}, {'connected_gene': 'PCOLCE2', 'score': 10.81}, {'connected_gene': 'ENSG00000241679', 'score': 4.75}, {'connected_gene': 'U2SURP', 'score': 0.39}, {'connected_gene': 'GC03P142958', 'score': 0.37}, {'connected_gene': 'PAQR9-AS1', 'score': 0.37}, {'connected_gene': 'LOC100289361', 'score': 0.34}, {'connected_gene': 'GC03M142971', 'score': 0.22}]
chr3 GH03I142828 142828799 142828968 0.84 [{'connected_gene': 'RPL8P3', 'score': 550.77}, {'connected_gene': 'PCOLCE2', 'score': 10.94}, {'connected_gene': 'LOC100507389', 'score': 10.8}, {'connected_gene': 'U2SURP', 'score': 10.44}]
chr3 GH03I143036 143036521 143037357 0.43 [{'connected_gene': 'GC03M142971', 'score': 550.77}, {'connected_gene': 'U2SURP', 'score': 6.47}, {'connected_gene': 'LOC105374138', 'score': 0.25}]

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