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
ENST00000557943 [[76507695, 76508938], [76518189, 76518270], [76523673, 76523739], [76566752, 76566835], [76576097, 76576166], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584854], [76584959, 76585041], [76587931, 76588078], [76603690, 76603810]] [[76508899, 76508938], [76518189, 76518270], [76523673, 76523739], [76566752, 76566835], [76576097, 76576166], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584854], [76584959, 76585041], [76587931, 76588078], [76603690, 76603729]]
ENST00000433983 [[76508424, 76508938], [76518189, 76518270], [76523673, 76523739], [76566752, 76566835], [76576097, 76576166], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584854], [76584959, 76585041], [76603690, 76603745]] [[76508899, 76508938], [76518189, 76518270], [76523673, 76523739], [76566752, 76566835], [76576097, 76576166], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584854], [76584959, 76585041], [76603690, 76603729]]
ENST00000267950 [[76508590, 76508938], [76518189, 76518270], [76523673, 76523739], [76566752, 76566835], [76576097, 76576166], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584854], [76587931, 76588078], [76603690, 76603789]] [[76584845, 76584854], [76587931, 76588078], [76603690, 76603729]]
ENST00000560726 [[76508808, 76508938], [76518189, 76518270], [76523673, 76523739], [76566752, 76566835], [76576097, 76576166], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584854], [76603690, 76603807]] [[76508899, 76508938], [76518189, 76518270], [76523673, 76523739], [76566752, 76566788]]
ENST00000559602 [[76508823, 76508938], [76518189, 76518270], [76523673, 76523739], [76566752, 76566835], [76576097, 76576166], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76603690, 76603755]] [[76508899, 76508938], [76518189, 76518270], [76523673, 76523739], [76566752, 76566835], [76576097, 76576166], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76603690, 76603729]]
ENST00000559973 [[76508899, 76508938], [76509926, 76510018], [76518189, 76518270], [76523673, 76523739], [76566752, 76566835], [76576097, 76576166], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584832]] [[76509928, 76510018], [76518189, 76518270], [76523673, 76523739], [76566752, 76566835], [76576097, 76576166], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584832]]
ENST00000560595 [[76508923, 76508938], [76518189, 76518270], [76523673, 76523739], [76566752, 76566835], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584854], [76584959, 76585041], [76587931, 76588078], [76603690, 76603737]] [[76508923, 76508938], [76518189, 76518270], [76523673, 76523739], [76566752, 76566835], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584854], [76584959, 76585041], [76587931, 76588078], [76603690, 76603729]]
ENST00000560899 [[76518245, 76518270], [76520053, 76520259], [76523673, 76523739], [76566752, 76566835], [76576097, 76576166], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584854], [76603690, 76603755]] [[76520241, 76520259], [76523673, 76523739], [76566752, 76566788]]
ENST00000559075 [[76522844, 76523739], [76566752, 76566835], [76576097, 76576166], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584854], [76584959, 76585041], [76587931, 76588078], [76603690, 76603753]] None
ENST00000560044 [[76523718, 76523739], [76566752, 76566835], [76576097, 76576166], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584854], [76584959, 76585041], [76587931, 76588078], [76602272, 76602405], [76603690, 76603813]] [[76602306, 76602405], [76603690, 76603729]]
ENST00000560816 [[76537552, 76537589], [76566752, 76566835], [76576097, 76576166], [76577977, 76578079], [76578711, 76578832]] None
ENST00000557975 [[76508470, 76508938], [76518189, 76518270], [76520053, 76520590]] None
ENST00000565910 [[76508661, 76508938], [76518189, 76518270], [76520053, 76520238], [76523673, 76523739]] [[76520163, 76520238], [76523673, 76523739]]
ENST00000560179 [[76508775, 76508938], [76518189, 76518676]] None
ENST00000558803 [[76566473, 76566835], [76576097, 76576182]] None
ENST00000559758 [[76566516, 76566835], [76576097, 76576166], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584963]] None
ENST00000560345 [[76566759, 76566835], [76576097, 76576166], [76576705, 76576801], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584854], [76584959, 76585039]] [[76566759, 76566835], [76576097, 76576166], [76576705, 76576801], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584854], [76584959, 76585039]]
ENST00000559386 [[76566823, 76566835], [76576097, 76576166], [76577145, 76577268], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584854], [76584959, 76585041], [76587931, 76588078], [76603690, 76603754]] [[76566823, 76566835], [76576097, 76576166], [76577145, 76577268], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584854], [76584959, 76585041], [76587931, 76588078], [76603690, 76603729]]
ENST00000560309 [[76578746, 76578822], [76580186, 76580286], [76584771, 76584854], [76587931, 76588078], [76602272, 76602405], [76603690, 76603784]] [[76602306, 76602405], [76603690, 76603729]]
ENST00000561092 [[76580108, 76580286], [76584771, 76584854], [76587931, 76588078], [76603690, 76603743]] None
NM_000126 [[76508627, 76508938], [76518189, 76518270], [76523673, 76523739], [76566752, 76566835], [76576097, 76576166], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584854], [76584959, 76585041], [76587931, 76588078], [76603690, 76603810]] [[76508899, 76508938], [76518189, 76518270], [76523673, 76523739], [76566752, 76566835], [76576097, 76576166], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584854], [76584959, 76585041], [76587931, 76588078], [76603690, 76603729]]
NM_001127716 [[76508627, 76508938], [76518189, 76518270], [76523673, 76523739], [76566752, 76566835], [76576097, 76576166], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584854], [76584959, 76585041], [76603690, 76603810]] [[76508899, 76508938], [76518189, 76518270], [76523673, 76523739], [76566752, 76566835], [76576097, 76576166], [76577977, 76578079], [76578711, 76578822], [76580186, 76580286], [76584771, 76584854], [76584959, 76585041], [76603690, 76603729]]
Promoter
Chrom Start End Description
chr15 76603727 76603818 CAGE_peak_1_at_ETFA_5end
chr15 76603828 76603839 CAGE_peak_2_at_ETFA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I076993 76993114 77000524 2.19 [{'connected_gene': 'PSTPIP1', 'score': 552.05}, {'connected_gene': 'SCAPER', 'score': 20.17}, {'connected_gene': 'TSPAN3', 'score': 16.24}, {'connected_gene': 'ETFA', 'score': 4.82}, {'connected_gene': 'ENSG00000269951', 'score': 4.0}, {'connected_gene': 'LOC105370905', 'score': 0.26}]
chr15 GH15I076335 76335043 76343816 2.48 [{'connected_gene': 'ISL2', 'score': 561.18}, {'connected_gene': 'MAN2C1', 'score': 26.58}, {'connected_gene': 'SCAPER', 'score': 26.03}, {'connected_gene': 'DNM1P35', 'score': 20.66}, {'connected_gene': 'FBXO22', 'score': 17.63}, {'connected_gene': 'SIN3A', 'score': 16.22}, {'connected_gene': 'ENSG00000260274', 'score': 16.01}, {'connected_gene': 'ETFA', 'score': 12.32}, {'connected_gene': 'NEIL1', 'score': 10.82}, {'connected_gene': 'LOC441728', 'score': 9.71}, {'connected_gene': 'SNUPN', 'score': 9.66}, {'connected_gene': 'RCN2', 'score': 5.25}, {'connected_gene': 'LOC105370905', 'score': 4.22}, {'connected_gene': 'ENSG00000259514', 'score': 0.77}, {'connected_gene': 'ENSG00000270036', 'score': 0.77}, {'connected_gene': 'GC15P076261', 'score': 0.18}]
chr15 GH15I076333 76333860 76334089 0.79 [{'connected_gene': 'ISL2', 'score': 550.77}, {'connected_gene': 'ETFA', 'score': 0.34}, {'connected_gene': 'GC15P076261', 'score': 0.19}]
chr15 GH15I076327 76327680 76327829 0.74 [{'connected_gene': 'SCAPER', 'score': 10.09}, {'connected_gene': 'ISL2', 'score': 0.44}, {'connected_gene': 'ETFA', 'score': 0.37}, {'connected_gene': 'GC15P076261', 'score': 0.2}]
chr15 GH15I076285 76285611 76287379 0.72 [{'connected_gene': 'SCAPER', 'score': 19.08}, {'connected_gene': 'ETFA', 'score': 13.85}, {'connected_gene': 'GC15M076267', 'score': 0.37}, {'connected_gene': 'GC15M076311', 'score': 0.34}, {'connected_gene': 'GC15P076261', 'score': 0.34}]
chr15 GH15I076195 76195427 76199768 1.32 [{'connected_gene': 'SCAPER', 'score': 20.43}, {'connected_gene': 'TMEM266', 'score': 10.22}, {'connected_gene': 'NRG4', 'score': 10.22}, {'connected_gene': 'ISL2', 'score': 8.06}, {'connected_gene': 'ETFA', 'score': 5.41}, {'connected_gene': 'TSPAN3', 'score': 4.01}, {'connected_gene': 'LOC101929439', 'score': 0.37}, {'connected_gene': 'ENSG00000196274', 'score': 0.29}]
chr15 GH15I076330 76330400 76330549 0.54 [{'connected_gene': 'SCAPER', 'score': 12.14}, {'connected_gene': 'LOC105370905', 'score': 4.08}, {'connected_gene': 'ISL2', 'score': 0.44}, {'connected_gene': 'ETFA', 'score': 0.37}, {'connected_gene': 'GC15P076261', 'score': 0.2}]
chr15 GH15I076160 76160966 76164898 1.44 [{'connected_gene': 'FBXO22', 'score': 7.83}, {'connected_gene': 'ETFA', 'score': 4.63}, {'connected_gene': 'TSPAN3', 'score': 4.57}, {'connected_gene': 'SCAPER', 'score': 3.94}, {'connected_gene': 'LOC101929439', 'score': 0.37}, {'connected_gene': 'TMEM266', 'score': 0.15}]
chr15 GH15I076309 76309709 76315610 2.32 [{'connected_gene': 'ETFA', 'score': 564.34}, {'connected_gene': 'GC15M076311', 'score': 550.77}, {'connected_gene': 'SIN3A', 'score': 42.32}, {'connected_gene': 'MAN2C1', 'score': 31.39}, {'connected_gene': 'ENSG00000260274', 'score': 29.28}, {'connected_gene': 'DNM1P35', 'score': 20.56}, {'connected_gene': 'SCAPER', 'score': 18.26}, {'connected_gene': 'TYRO3P', 'score': 11.01}, {'connected_gene': 'LOC441728', 'score': 10.84}, {'connected_gene': 'SNUPN', 'score': 10.8}, {'connected_gene': 'LOC105370905', 'score': 10.74}, {'connected_gene': 'COMMD4', 'score': 10.74}, {'connected_gene': 'ENSG00000203392', 'score': 10.51}, {'connected_gene': 'FBXO22', 'score': 9.64}, {'connected_gene': 'ISL2', 'score': 7.13}, {'connected_gene': 'GC15P076261', 'score': 0.23}]
chr15 GH15I076328 76327340 76327429 0.65 [{'connected_gene': 'LOC101929439', 'score': 4.09}, {'connected_gene': 'ISL2', 'score': 0.44}, {'connected_gene': 'ETFA', 'score': 0.37}, {'connected_gene': 'GC15P076261', 'score': 0.2}]
chr15 GH15I076253 76253639 76254342 0.31 [{'connected_gene': 'GC15P076261', 'score': 0.44}, {'connected_gene': 'ENSG00000196274', 'score': 0.34}, {'connected_gene': 'ETFA', 'score': 0.22}]
chr15 GH15I076286 76285380 76285529 0.49 [{'connected_gene': 'GC15M076267', 'score': 0.37}, {'connected_gene': 'GC15P076261', 'score': 0.34}, {'connected_gene': 'GC15M076311', 'score': 0.31}, {'connected_gene': 'ETFA', 'score': 0.31}]
chr15 GH15I076217 76217180 76217289 0.7 [{'connected_gene': 'ENSG00000196274', 'score': 0.39}, {'connected_gene': 'LOC101929439', 'score': 0.28}, {'connected_gene': 'ETFA', 'score': 0.16}, {'connected_gene': 'TMEM266', 'score': 0.1}]

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