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
ENST00000311457 [[24641061, 24641574], [24641675, 24641817], [24641921, 24641990], [24642107, 24642250], [24642334, 24642407], [24642499, 24642620], [24644751, 24644833], [24646030, 24646110], [24646349, 24646428], [24646558, 24646589], [24646670, 24646747], [24646914, 24646964], [24647296, 24647428], [24647811, 24647878], [24647982, 24648122], [24648290, 24648339], [24648602, 24648669], [24648800, 24648932], [24649005, 24649112], [24649215, 24649463]] [[24641761, 24641817], [24641921, 24641990], [24642107, 24642250], [24642334, 24642407], [24642499, 24642620], [24644751, 24644833], [24646030, 24646110], [24646349, 24646428], [24646558, 24646589], [24646670, 24646747], [24646914, 24646964], [24647296, 24647428], [24647811, 24647878], [24647982, 24648122], [24648290, 24648339], [24648602, 24648669], [24648800, 24648932], [24649005, 24649112], [24649215, 24649301]]
ENST00000557806 [[24641223, 24641574], [24641700, 24641817], [24641921, 24641990], [24642107, 24642205]] [[24641761, 24641817], [24641921, 24641990], [24642107, 24642205]]
ENST00000559919 [[24641233, 24641817], [24641921, 24641990], [24642107, 24642250], [24642334, 24642407], [24642499, 24642620], [24644751, 24644833], [24646030, 24646110], [24646349, 24646428], [24646558, 24646589], [24646670, 24646747], [24646914, 24646964], [24647296, 24647428], [24647811, 24647878], [24647982, 24648122], [24648290, 24648339], [24648602, 24648669], [24648800, 24648932], [24649005, 24649112], [24649215, 24649460]] [[24641761, 24641817], [24641921, 24641990], [24642107, 24642250], [24642334, 24642407], [24642499, 24642620], [24644751, 24644833], [24646030, 24646110], [24646349, 24646428], [24646558, 24646589], [24646670, 24646747], [24646914, 24646964], [24647296, 24647428], [24647811, 24647878], [24647982, 24648122], [24648290, 24648339], [24648602, 24648669], [24648800, 24648932], [24649005, 24649112], [24649215, 24649301]]
ENST00000557979 [[24641343, 24641817], [24641921, 24641990], [24642107, 24642250], [24642334, 24642407], [24642499, 24642620], [24644751, 24644833], [24646030, 24646110], [24646349, 24646428], [24646558, 24646589], [24646670, 24647428], [24647811, 24647878], [24647982, 24648122], [24648290, 24648339], [24648602, 24648669], [24648800, 24648932], [24649005, 24649112], [24649215, 24649460]] None
ENST00000560032 [[24641490, 24641817], [24641921, 24641990], [24642107, 24642372]] None
ENST00000560501 [[24641819, 24641990], [24642107, 24642250], [24642334, 24642407], [24642499, 24642620], [24644751, 24644833], [24646030, 24646093]] [[24642393, 24642407], [24642499, 24642620], [24644751, 24644833], [24646030, 24646093]]
ENST00000558782 [[24641957, 24641990], [24642107, 24642407], [24642499, 24642620], [24644751, 24644833], [24646030, 24646110], [24646349, 24646428], [24646558, 24646956]] None
ENST00000558697 [[24644526, 24644833], [24646030, 24646110], [24646349, 24646428], [24646558, 24647124]] None
ENST00000560823 [[24646715, 24646747], [24646914, 24647306]] None
ENST00000559797 [[24647331, 24647428], [24647811, 24647878], [24647982, 24648122], [24648290, 24648339], [24648602, 24648669], [24648800, 24648932], [24649005, 24649460]] [[24647331, 24647428], [24647811, 24647878], [24647982, 24648122], [24648290, 24648339], [24648602, 24648669], [24648800, 24648932], [24649005, 24649460]]
ENST00000558191 [[24647388, 24647428], [24647811, 24648122], [24648290, 24648339], [24648602, 24648669], [24648800, 24648894]] None
ENST00000559939 [[24648641, 24648669], [24648800, 24648932], [24649005, 24649112], [24649232, 24649459]] None
ENST00000558381 [[24648733, 24649112], [24649215, 24649241]] None
NM_005132 [[24641233, 24641574], [24641675, 24641817], [24641921, 24641990], [24642107, 24642250], [24642334, 24642407], [24642499, 24642620], [24644751, 24644833], [24646030, 24646110], [24646349, 24646428], [24646558, 24646589], [24646670, 24646747], [24646914, 24646964], [24647296, 24647428], [24647811, 24647878], [24647982, 24648122], [24648290, 24648339], [24648602, 24648669], [24648800, 24648932], [24649005, 24649112], [24649215, 24649463]] [[24641761, 24641817], [24641921, 24641990], [24642107, 24642250], [24642334, 24642407], [24642499, 24642620], [24644751, 24644833], [24646030, 24646110], [24646349, 24646428], [24646558, 24646589], [24646670, 24646747], [24646914, 24646964], [24647296, 24647428], [24647811, 24647878], [24647982, 24648122], [24648290, 24648339], [24648602, 24648669], [24648800, 24648932], [24649005, 24649112], [24649215, 24649301]]
NM_001048205 [[24641233, 24641817], [24641921, 24641990], [24642107, 24642250], [24642334, 24642407], [24642499, 24642620], [24644751, 24644833], [24646030, 24646110], [24646349, 24646428], [24646558, 24646589], [24646670, 24646747], [24646914, 24646964], [24647296, 24647428], [24647811, 24647878], [24647982, 24648122], [24648290, 24648339], [24648602, 24648669], [24648800, 24648932], [24649005, 24649112], [24649215, 24649463]] [[24641761, 24641817], [24641921, 24641990], [24642107, 24642250], [24642334, 24642407], [24642499, 24642620], [24644751, 24644833], [24646030, 24646110], [24646349, 24646428], [24646558, 24646589], [24646670, 24646747], [24646914, 24646964], [24647296, 24647428], [24647811, 24647878], [24647982, 24648122], [24648290, 24648339], [24648602, 24648669], [24648800, 24648932], [24649005, 24649112], [24649215, 24649301]]
Promoter
Chrom Start End Description
chr14 24641209 24641246 CAGE_peak_2_at_REC8_5end
chr14 24641247 24641304 CAGE_peak_1_at_REC8_5end
chr14 24641311 24641322 CAGE_peak_3_at_REC8_5end
chr14 24641910 24641937 CAGE_peak_4_at_REC8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I024170 24170851 24173653 1.73 [{'connected_gene': 'REC8', 'score': 550.77}, {'connected_gene': 'TSSK4', 'score': 5.27}, {'connected_gene': 'TM9SF1', 'score': 5.05}, {'connected_gene': 'PIR48221', 'score': 0.39}]
chr14 GH14I024013 24013801 24014400 1.11 [{'connected_gene': 'CARMIL3', 'score': 12.69}, {'connected_gene': 'REC8', 'score': 10.1}, {'connected_gene': 'DHRS4L1', 'score': 0.44}, {'connected_gene': 'PIR58946', 'score': 0.34}]
chr14 GH14I024080 24080532 24082348 1.44 [{'connected_gene': 'CARMIL3', 'score': 12.89}, {'connected_gene': 'PSME2', 'score': 10.67}, {'connected_gene': 'RNF31', 'score': 10.67}, {'connected_gene': 'IPO4', 'score': 10.35}, {'connected_gene': 'TM9SF1', 'score': 10.34}, {'connected_gene': 'REC8', 'score': 9.96}, {'connected_gene': 'EMC9', 'score': 9.21}, {'connected_gene': 'PCK2', 'score': 0.39}, {'connected_gene': 'CPNE6', 'score': 0.39}, {'connected_gene': 'NRL', 'score': 0.29}]
chr14 GH14I024084 24084624 24084683 0.5 [{'connected_gene': 'NRL', 'score': 550.29}, {'connected_gene': 'CARMIL3', 'score': 11.73}, {'connected_gene': 'PSME2', 'score': 10.67}, {'connected_gene': 'RNF31', 'score': 10.67}, {'connected_gene': 'IPO4', 'score': 10.0}, {'connected_gene': 'TM9SF1', 'score': 9.99}, {'connected_gene': 'REC8', 'score': 9.71}, {'connected_gene': 'PCK2', 'score': 0.44}, {'connected_gene': 'CPNE6', 'score': 0.39}]
chr14 GH14I024083 24083616 24083675 0.79 [{'connected_gene': 'NRL', 'score': 550.29}, {'connected_gene': 'CARMIL3', 'score': 11.73}, {'connected_gene': 'PSME2', 'score': 10.67}, {'connected_gene': 'RNF31', 'score': 10.67}, {'connected_gene': 'IPO4', 'score': 10.0}, {'connected_gene': 'TM9SF1', 'score': 9.99}, {'connected_gene': 'REC8', 'score': 9.71}, {'connected_gene': 'PCK2', 'score': 0.39}, {'connected_gene': 'CPNE6', 'score': 0.39}]
chr14 GH14I024178 24178465 24182741 0.98 [{'connected_gene': 'TSSK4', 'score': 5.41}, {'connected_gene': 'REC8', 'score': 5.31}, {'connected_gene': 'EMC9', 'score': 5.29}, {'connected_gene': 'PIR48221', 'score': 0.77}, {'connected_gene': 'IPO4', 'score': 0.44}, {'connected_gene': 'ENSG00000259522', 'score': 0.44}]
chr14 GH14I024224 24224135 24225867 0.63 [{'connected_gene': 'NOP9', 'score': 11.34}, {'connected_gene': 'DHRS1', 'score': 11.34}, {'connected_gene': 'TGM1', 'score': 10.82}, {'connected_gene': 'REC8', 'score': 10.51}, {'connected_gene': 'MDP1', 'score': 10.14}, {'connected_gene': 'TM9SF1', 'score': 5.88}, {'connected_gene': 'NEDD8', 'score': 0.44}, {'connected_gene': 'NEDD8-MDP1', 'score': 0.44}]
chr14 GH14I024194 24194150 24197603 2.09 [{'connected_gene': 'TM9SF1', 'score': 566.24}, {'connected_gene': 'PIR45873', 'score': 550.77}, {'connected_gene': 'RNF31', 'score': 32.57}, {'connected_gene': 'TINF2', 'score': 25.35}, {'connected_gene': 'MDP1', 'score': 22.41}, {'connected_gene': 'SLC22A17', 'score': 21.61}, {'connected_gene': 'PSME2', 'score': 20.64}, {'connected_gene': 'KHNYN', 'score': 17.19}, {'connected_gene': 'RNA5SP383', 'score': 14.59}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'LOC102724814', 'score': 12.4}, {'connected_gene': 'CIDEB', 'score': 12.29}, {'connected_gene': 'SDR39U1', 'score': 11.85}, {'connected_gene': 'REC8', 'score': 11.71}, {'connected_gene': 'NEDD8-MDP1', 'score': 11.47}, {'connected_gene': 'NEDD8', 'score': 11.47}, {'connected_gene': 'PABPN1', 'score': 10.8}, {'connected_gene': 'IPO4', 'score': 10.57}, {'connected_gene': 'ENSG00000259321', 'score': 10.47}, {'connected_gene': 'TGM1', 'score': 10.3}, {'connected_gene': 'NFATC4', 'score': 10.14}, {'connected_gene': 'BCL2L2', 'score': 9.99}, {'connected_gene': 'EFS', 'score': 9.91}, {'connected_gene': 'TSSK4', 'score': 5.62}, {'connected_gene': 'DHRS4', 'score': 4.29}, {'connected_gene': 'ENSG00000276698', 'score': 0.77}, {'connected_gene': 'ENSG00000254692', 'score': 0.37}]
chr14 GH14I024159 24159525 24163571 2.09 [{'connected_gene': 'IRF9', 'score': 550.77}, {'connected_gene': 'TM9SF1', 'score': 17.92}, {'connected_gene': 'RNA5SP383', 'score': 16.51}, {'connected_gene': 'KHNYN', 'score': 15.65}, {'connected_gene': 'RNF31', 'score': 12.84}, {'connected_gene': 'LOC102724814', 'score': 12.7}, {'connected_gene': 'TINF2', 'score': 12.4}, {'connected_gene': 'HOMEZ', 'score': 9.85}, {'connected_gene': 'CIDEB', 'score': 9.82}, {'connected_gene': 'RIPK3', 'score': 9.47}, {'connected_gene': 'TSSK4', 'score': 4.89}, {'connected_gene': 'ENSG00000259529', 'score': 0.39}, {'connected_gene': 'REC8', 'score': 0.39}]
chr14 GH14I024123 24123152 24124568 0.6 [{'connected_gene': 'PIR38746', 'score': 550.77}, {'connected_gene': 'PIR61331', 'score': 550.77}, {'connected_gene': 'REC8', 'score': 11.54}, {'connected_gene': 'PSME2', 'score': 11.32}, {'connected_gene': 'RNF31', 'score': 11.32}, {'connected_gene': 'PCK2', 'score': 10.93}, {'connected_gene': 'IPO4', 'score': 10.68}, {'connected_gene': 'TM9SF1', 'score': 10.67}, {'connected_gene': 'TSSK4', 'score': 9.67}, {'connected_gene': 'EMC9', 'score': 6.49}, {'connected_gene': 'ENSG00000259371', 'score': 0.77}, {'connected_gene': 'DCAF11', 'score': 0.44}]
chr14 GH14I024201 24201415 24201564 0.46 [{'connected_gene': 'ENSG00000278784', 'score': 550.77}, {'connected_gene': 'REC8', 'score': 11.3}, {'connected_gene': 'TSSK4', 'score': 6.49}, {'connected_gene': 'ENSG00000276698', 'score': 0.77}, {'connected_gene': 'ENSG00000254692', 'score': 0.39}]
chr14 GH14I024277 24277001 24282199 1.21 [{'connected_gene': 'PIR40275', 'score': 550.77}, {'connected_gene': 'DHRS1', 'score': 39.77}, {'connected_gene': 'TINF2', 'score': 16.94}, {'connected_gene': 'NOP9', 'score': 12.92}, {'connected_gene': 'LTB4R2', 'score': 12.85}, {'connected_gene': 'LTB4R', 'score': 12.83}, {'connected_gene': 'CIDEB', 'score': 12.83}, {'connected_gene': 'GMPR2', 'score': 12.16}, {'connected_gene': 'NEDD8-MDP1', 'score': 12.16}, {'connected_gene': 'NEDD8', 'score': 12.16}, {'connected_gene': 'MDP1', 'score': 11.14}, {'connected_gene': 'CHMP4A', 'score': 11.13}, {'connected_gene': 'ENSG00000254692', 'score': 11.13}, {'connected_gene': 'TM9SF1', 'score': 11.1}, {'connected_gene': 'ADCY4', 'score': 10.8}, {'connected_gene': 'IPO4', 'score': 10.53}, {'connected_gene': 'REC8', 'score': 10.39}, {'connected_gene': 'TSSK4', 'score': 10.22}, {'connected_gene': 'IRF9', 'score': 3.96}, {'connected_gene': 'KHNYN', 'score': 2.93}, {'connected_gene': 'PSME1', 'score': 1.59}, {'connected_gene': 'DCAF11', 'score': 1.26}, {'connected_gene': 'LOC102725044', 'score': 0.44}]

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