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
ENST00000395383 [[133787617, 133787891], [133790041, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133811328, 133811418], [133816063, 133816277], [133816859, 133816985], [133823290, 133823373], [133826881, 133827134], [133829132, 133829321], [133829583, 133829790], [133836248, 133837579]] None
ENST00000361997 [[133787620, 133787891], [133790037, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133816063, 133816277], [133816856, 133816985], [133823290, 133823373], [133826881, 133827134], [133829132, 133829321], [133829583, 133831215]] None
ENST00000395386 [[133787629, 133787891], [133790037, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133811340, 133811418], [133816063, 133816277], [133816859, 133816985], [133823290, 133823373], [133826881, 133827134], [133829132, 133829321], [133829583, 133829790], [133836248, 133836305], [133837508, 133837616], [133844479, 133844644], [133848784, 133848966], [133849956, 133850056], [133851631, 133851827], [133854759, 133855120], [133856400, 133856563], [133858025, 133861052]] [[133790074, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133811340, 133811418], [133816063, 133816277], [133816859, 133816985], [133823290, 133823373], [133826881, 133827134], [133829132, 133829321], [133829583, 133829790], [133836248, 133836305], [133837508, 133837616], [133844479, 133844644], [133848784, 133848966], [133849956, 133850056], [133851631, 133851827], [133854759, 133855120], [133856400, 133856563], [133858025, 133858168]]
ENST00000315808 [[133787645, 133787891], [133790037, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133811340, 133811418], [133816063, 133816277], [133816859, 133816985], [133823290, 133823373], [133826881, 133827134], [133829132, 133829321], [133829583, 133829790], [133836248, 133836305], [133837279, 133837586]] None
ENST00000337920 [[133787653, 133787891], [133790041, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133816063, 133816277], [133816859, 133816985], [133823290, 133824561]] [[133790074, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133816063, 133816277], [133816859, 133816985], [133823290, 133823379]]
ENST00000395376 [[133787825, 133787891], [133790037, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133811328, 133811418], [133816063, 133816277], [133816856, 133816985], [133823290, 133824561]] [[133790074, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133811328, 133811418], [133816063, 133816277], [133816856, 133816985], [133823290, 133823379]]
ENST00000220847 [[133787874, 133787891], [133790037, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133816063, 133816277], [133816859, 133816985], [133823290, 133823373], [133826881, 133827134], [133829132, 133829321], [133829583, 133829790], [133836248, 133836305], [133837508, 133837616], [133844479, 133844644], [133848784, 133848966], [133849956, 133850056], [133851631, 133851827], [133854759, 133855120], [133856400, 133856563], [133858025, 133858872]] [[133844574, 133844644], [133848784, 133848966], [133849956, 133850056], [133851631, 133851827], [133854759, 133855120], [133856400, 133856563], [133858025, 133858168]]
ENST00000395390 [[133790037, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133816063, 133816277], [133816856, 133816985], [133823290, 133823373], [133826881, 133827134], [133829132, 133829321], [133829583, 133829790], [133836248, 133836305], [133837508, 133837616], [133844479, 133844644], [133848784, 133848966], [133849956, 133850056], [133851631, 133851827], [133854759, 133855120], [133856400, 133856563], [133858025, 133861052]] [[133790074, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133816063, 133816277], [133816856, 133816985], [133823290, 133823373], [133826881, 133827134], [133829132, 133829321], [133829583, 133829790], [133836248, 133836305], [133837508, 133837616], [133844479, 133844644], [133848784, 133848966], [133849956, 133850056], [133851631, 133851827], [133854759, 133855120], [133856400, 133856563], [133858025, 133858168]]
ENST00000486199 [[133790068, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133816063, 133816277], [133816859, 133816985], [133819967, 133820028], [133823290, 133823373], [133826881, 133827134], [133829583, 133829790], [133836248, 133836305], [133837279, 133837402], [133837508, 133837582]] [[133790074, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133816063, 133816277], [133816859, 133816985], [133819967, 133819993]]
ENST00000395374 [[133815785, 133816277], [133816859, 133816985], [133823290, 133825433]] None
ENST00000469979 [[133818625, 133823373], [133826881, 133829790], [133836248, 133836305], [133837508, 133837616]] None
ENST00000395379 [[133787620, 133787891], [133790037, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133811340, 133811418], [133816063, 133816277], [133816859, 133816985], [133823290, 133824133]] [[133790074, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133811340, 133811418], [133816063, 133816277], [133816859, 133816985], [133823290, 133823379]]
ENST00000485595 [[133787643, 133787891], [133790041, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133812175]] None
ENST00000522580 [[133790034, 133790157], [133801049, 133801245], [133806655, 133806827], [133806978, 133807063], [133811017, 133811062]] [[133806698, 133806827], [133806978, 133807063], [133811017, 133811062]]
ENST00000521038 [[133811404, 133811418], [133816063, 133816277], [133816825, 133816985], [133823290, 133823329]] [[133811404, 133811418], [133816063, 133816277], [133816825, 133816935]]
ENST00000522253 [[133829028, 133829321], [133829583, 133829790], [133836248, 133836302]] None
ENST00000460236 [[133829652, 133829790], [133836248, 133836305], [133837279, 133837402], [133837508, 133837616], [133844479, 133844644], [133848784, 133848966], [133849956, 133850056], [133851631, 133851827], [133854759, 133855120], [133856400, 133856563], [133858025, 133859825]] [[133829652, 133829790], [133836248, 133836305], [133837279, 133837365]]
ENST00000493126 [[133848589, 133848966], [133849956, 133850061]] None
ENST00000477051 [[133853797, 133855120], [133856400, 133856563], [133858025, 133859832]] None
NM_198513 [[133787603, 133787891], [133790041, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133816063, 133816277], [133816859, 133816985], [133823290, 133825439]] [[133790074, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133816063, 133816277], [133816859, 133816985], [133823290, 133823379]]
NM_001277196 [[133787603, 133787891], [133790037, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133816063, 133816277], [133816859, 133816985], [133823290, 133823373], [133826881, 133827134], [133829132, 133829321], [133829583, 133829790], [133836248, 133836305], [133837508, 133837616], [133844479, 133844644], [133848784, 133848966], [133849956, 133850056], [133851631, 133851827], [133854759, 133855120], [133856400, 133856563], [133858025, 133861052]] [[133790074, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133816063, 133816277], [133816859, 133816985], [133823290, 133823373], [133826881, 133827134], [133829132, 133829321], [133829583, 133829790], [133836248, 133836305], [133837508, 133837616], [133844479, 133844644], [133848784, 133848966], [133849956, 133850056], [133851631, 133851827], [133854759, 133855120], [133856400, 133856563], [133858025, 133858168]]
NM_016018 [[133787603, 133787891], [133790037, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133811340, 133811418], [133816063, 133816277], [133816859, 133816985], [133823290, 133823373], [133826881, 133827134], [133829132, 133829321], [133829583, 133829790], [133836248, 133836305], [133837508, 133837616], [133844479, 133844644], [133848784, 133848966], [133849956, 133850056], [133851631, 133851827], [133854759, 133855120], [133856400, 133856563], [133858025, 133861052]] [[133790074, 133790157], [133806655, 133806827], [133806978, 133807063], [133811017, 133811106], [133811340, 133811418], [133816063, 133816277], [133816859, 133816985], [133823290, 133823373], [133826881, 133827134], [133829132, 133829321], [133829583, 133829790], [133836248, 133836305], [133837508, 133837616], [133844479, 133844644], [133848784, 133848966], [133849956, 133850056], [133851631, 133851827], [133854759, 133855120], [133856400, 133856563], [133858025, 133858168]]
Promoter
Chrom Start End Description
chr8 133787571 133787582 CAGE_peak_2_at_PHF20L1_5end
chr8 133787586 133787673 CAGE_peak_1_at_PHF20L1_5end
chr8 133837276 133837291 CAGE_peak_10_at_PHF20L1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I133128 133128209 133131608 1.46 [{'connected_gene': 'WISP1', 'score': 17.24}, {'connected_gene': 'TG', 'score': 12.84}, {'connected_gene': 'SLA', 'score': 12.31}, {'connected_gene': 'ST3GAL1', 'score': 10.8}, {'connected_gene': 'PHF20L1', 'score': 1.46}, {'connected_gene': 'NDRG1', 'score': 1.2}, {'connected_gene': 'GC08P133116', 'score': 0.39}, {'connected_gene': 'LOC105375769', 'score': 0.39}]
chr8 GH08I133152 133152591 133153666 0.91 [{'connected_gene': 'WISP1', 'score': 12.1}, {'connected_gene': 'SLA', 'score': 10.64}, {'connected_gene': 'TG', 'score': 10.26}, {'connected_gene': 'ENSG00000223697', 'score': 9.5}, {'connected_gene': 'PHF20L1', 'score': 9.5}, {'connected_gene': 'LOC105375769', 'score': 0.44}, {'connected_gene': 'GC08M133177', 'score': 0.31}]
chr8 GH08I133031 133031685 133038373 1.48 [{'connected_gene': 'TG', 'score': 19.41}, {'connected_gene': 'PHF20L1', 'score': 14.74}, {'connected_gene': 'WISP1', 'score': 11.08}, {'connected_gene': 'SLA', 'score': 10.96}, {'connected_gene': 'ENSG00000223697', 'score': 9.54}, {'connected_gene': 'TMEM71', 'score': 4.82}, {'connected_gene': 'GC08P133037', 'score': 0.77}, {'connected_gene': 'LOC105375768', 'score': 0.34}]
chr8 GH08I132883 132883675 132884055 0.22 [{'connected_gene': 'TG', 'score': 13.75}, {'connected_gene': 'PHF20L1', 'score': 4.42}, {'connected_gene': 'SLA', 'score': 2.61}, {'connected_gene': 'KCNQ3', 'score': 1.51}, {'connected_gene': 'GC08M133003', 'score': 0.13}]
chr8 GH08I133030 133030519 133031065 0.38 [{'connected_gene': 'PHF20L1', 'score': 14.42}, {'connected_gene': 'TG', 'score': 12.01}, {'connected_gene': 'SLA', 'score': 10.66}, {'connected_gene': 'ENSG00000223697', 'score': 9.54}, {'connected_gene': 'TMEM71', 'score': 4.77}, {'connected_gene': 'GC08P133037', 'score': 0.44}, {'connected_gene': 'LOC105375768', 'score': 0.37}]
chr8 GH08I132835 132835249 132835745 0.81 [{'connected_gene': 'PHF20L1', 'score': 19.76}, {'connected_gene': 'TG', 'score': 11.19}, {'connected_gene': 'LRRC6', 'score': 9.04}, {'connected_gene': 'ENSG00000223697', 'score': 0.44}, {'connected_gene': 'ENSG00000270137', 'score': 0.44}]
chr8 GH08I132832 132832777 132834819 0.86 [{'connected_gene': 'PHF20L1', 'score': 19.77}, {'connected_gene': 'LRRC6', 'score': 14.3}, {'connected_gene': 'TG', 'score': 11.19}, {'connected_gene': 'ENSG00000270137', 'score': 0.44}, {'connected_gene': 'ENSG00000223697', 'score': 0.39}]
chr8 GH08I132753 132753490 132753843 0.22 [{'connected_gene': 'PHF20L1', 'score': 19.93}, {'connected_gene': 'TMEM71', 'score': 10.29}, {'connected_gene': 'LRRC6', 'score': 10.15}, {'connected_gene': 'SLA', 'score': 1.35}]
chr8 GH08I132789 132789865 132791262 0.38 [{'connected_gene': 'PHF20L1', 'score': 9.57}, {'connected_gene': 'TMEM71', 'score': 5.82}, {'connected_gene': 'GC08P132799', 'score': 0.44}, {'connected_gene': 'GC08M132785', 'score': 0.31}]
chr8 GH08I132774 132774504 132776634 2.18 [{'connected_gene': 'PHF20L1', 'score': 558.28}, {'connected_gene': 'ENSG00000223697', 'score': 12.4}, {'connected_gene': 'TMEM71', 'score': 5.9}, {'connected_gene': 'GC08P132799', 'score': 0.34}]
chr8 GH08I133138 133138175 133140590 1.34 [{'connected_gene': 'SLA', 'score': 13.67}, {'connected_gene': 'WISP1', 'score': 10.78}, {'connected_gene': 'ST3GAL1', 'score': 2.78}, {'connected_gene': 'TMEM71', 'score': 2.76}, {'connected_gene': 'PHF20L1', 'score': 2.36}, {'connected_gene': 'LOC105375769', 'score': 0.77}, {'connected_gene': 'GC08P133116', 'score': 0.34}]
chr8 GH08I133051 133051773 133077615 2.37 [{'connected_gene': 'SLA', 'score': 565.3}, {'connected_gene': 'TG', 'score': 24.13}, {'connected_gene': 'WISP1', 'score': 19.34}, {'connected_gene': 'TMEM71', 'score': 6.45}, {'connected_gene': 'PHF20L1', 'score': 6.32}, {'connected_gene': 'ENSG00000270137', 'score': 5.31}, {'connected_gene': 'GC08P133070', 'score': 0.44}, {'connected_gene': 'GC08P133054', 'score': 0.44}]
chr8 GH08I133177 133177898 133178728 0.97 [{'connected_gene': 'SLA', 'score': 10.98}, {'connected_gene': 'ST3GAL1', 'score': 2.97}, {'connected_gene': 'PHF20L1', 'score': 2.5}, {'connected_gene': 'TMEM71', 'score': 2.19}, {'connected_gene': 'GC08M133177', 'score': 0.77}, {'connected_gene': 'LOC105375769', 'score': 0.29}]
chr8 GH08I132747 132747101 132748700 0.31 [{'connected_gene': 'LRRC6', 'score': 18.75}, {'connected_gene': 'PHF20L1', 'score': 10.67}, {'connected_gene': 'TMEM71', 'score': 0.39}]
chr8 GH08I132755 132755432 132756426 0.2 [{'connected_gene': 'LRRC6', 'score': 17.84}, {'connected_gene': 'PHF20L1', 'score': 6.11}, {'connected_gene': 'TMEM71', 'score': 0.77}]
chr8 GH08I132742 132742920 132744321 0.2 [{'connected_gene': 'LRRC6', 'score': 18.91}, {'connected_gene': 'PHF20L1', 'score': 16.47}, {'connected_gene': 'TMEM71', 'score': 0.37}]
chr8 GH08I132777 132777786 132779528 0.2 [{'connected_gene': 'LRRC6', 'score': 15.12}, {'connected_gene': 'PHF20L1', 'score': 9.89}, {'connected_gene': 'GC08P132799', 'score': 0.34}]
chr8 GH08I132793 132792992 132793217 0.46 [{'connected_gene': 'LRRC6', 'score': 13.92}, {'connected_gene': 'GC08P132799', 'score': 0.44}, {'connected_gene': 'PHF20L1', 'score': 0.37}, {'connected_gene': 'GC08M132785', 'score': 0.31}]
chr8 GH08I132734 132734630 132736728 0.38 [{'connected_gene': 'LRRC6', 'score': 18.65}, {'connected_gene': 'TMEM71', 'score': 11.4}, {'connected_gene': 'PHF20L1', 'score': 10.86}]
chr8 GH08I133147 133146393 133148089 1.17 [{'connected_gene': 'TMEM71', 'score': 37.56}, {'connected_gene': 'PHF20L1', 'score': 27.98}, {'connected_gene': 'WISP1', 'score': 17.76}, {'connected_gene': 'SLA', 'score': 11.37}, {'connected_gene': 'TG', 'score': 10.26}, {'connected_gene': 'ST3GAL1', 'score': 4.08}, {'connected_gene': 'LOC105375769', 'score': 0.77}, {'connected_gene': 'GC08M133177', 'score': 0.29}]
chr8 GH08I133077 133077825 133078509 0.82 [{'connected_gene': 'TMEM71', 'score': 41.69}, {'connected_gene': 'PHF20L1', 'score': 32.98}, {'connected_gene': 'WISP1', 'score': 16.21}, {'connected_gene': 'SLA', 'score': 12.4}, {'connected_gene': 'ST3GAL1', 'score': 5.78}, {'connected_gene': 'GC08P133070', 'score': 0.44}, {'connected_gene': 'TG', 'score': 0.08}]
chr8 GH08I133080 133080572 133083735 1.25 [{'connected_gene': 'TMEM71', 'score': 42.18}, {'connected_gene': 'PHF20L1', 'score': 33.3}, {'connected_gene': 'WISP1', 'score': 17.19}, {'connected_gene': 'SLA', 'score': 14.02}, {'connected_gene': 'ST3GAL1', 'score': 6.1}, {'connected_gene': 'TG', 'score': 2.87}, {'connected_gene': 'GC08P133070', 'score': 0.39}]
chr8 GH08I133149 133149601 133151800 1.2 [{'connected_gene': 'TMEM71', 'score': 26.0}, {'connected_gene': 'PHF20L1', 'score': 24.93}, {'connected_gene': 'WISP1', 'score': 17.72}, {'connected_gene': 'SLA', 'score': 10.66}, {'connected_gene': 'ST3GAL1', 'score': 8.15}, {'connected_gene': 'LOC105375769', 'score': 0.44}, {'connected_gene': 'GC08M133177', 'score': 0.29}]
chr8 GH08I132740 132740335 132740484 0.51 [{'connected_gene': 'TMEM71', 'score': 11.43}, {'connected_gene': 'PHF20L1', 'score': 10.88}, {'connected_gene': 'LRRC6', 'score': 10.59}]
chr8 GH08I132758 132758025 132762231 2.03 [{'connected_gene': 'TMEM71', 'score': 593.65}, {'connected_gene': 'PHF20L1', 'score': 33.76}, {'connected_gene': 'LRRC6', 'score': 28.33}]
chr8 GH08I132736 132736998 132738279 0.38 [{'connected_gene': 'TMEM71', 'score': 11.43}, {'connected_gene': 'PHF20L1', 'score': 10.86}, {'connected_gene': 'LRRC6', 'score': 10.6}]
chr8 GH08I132767 132767713 132769200 1.29 [{'connected_gene': 'TMEM71', 'score': 18.55}, {'connected_gene': 'PHF20L1', 'score': 17.86}, {'connected_gene': 'LRRC6', 'score': 15.88}]
chr8 GH08I132784 132784486 132785568 0.52 [{'connected_gene': 'TMEM71', 'score': 11.07}, {'connected_gene': 'PHF20L1', 'score': 0.44}, {'connected_gene': 'GC08P132799', 'score': 0.39}, {'connected_gene': 'GC08M132785', 'score': 0.28}]
chr8 GH08I133142 133142401 133145999 1.04 [{'connected_gene': 'LOC105375769', 'score': 550.77}, {'connected_gene': 'TMEM71', 'score': 23.52}, {'connected_gene': 'PHF20L1', 'score': 22.4}, {'connected_gene': 'ST3GAL1', 'score': 12.68}, {'connected_gene': 'WISP1', 'score': 11.43}, {'connected_gene': 'SLA', 'score': 11.37}, {'connected_gene': 'NDRG1', 'score': 1.22}, {'connected_gene': 'GC08M133177', 'score': 0.28}]
chr8 GH08I132676 132676966 132677225 0.78 [{'connected_gene': 'LOC105375767', 'score': 550.77}, {'connected_gene': 'LRRC6', 'score': 4.78}, {'connected_gene': 'PHF20L1', 'score': 1.54}]
chr8 GH08I133245 133245036 133251916 1.38 [{'connected_gene': 'NDRG1', 'score': 15.23}, {'connected_gene': 'PHF20L1', 'score': 1.52}, {'connected_gene': 'GC08M133232', 'score': 0.39}]
chr8 GH08I133045 133045674 133046936 1.21 [{'connected_gene': 'MIR7848', 'score': 550.77}, {'connected_gene': 'TG', 'score': 14.45}, {'connected_gene': 'SLA', 'score': 13.43}, {'connected_gene': 'WISP1', 'score': 11.14}, {'connected_gene': 'TMEM71', 'score': 4.86}, {'connected_gene': 'PHF20L1', 'score': 4.84}, {'connected_gene': 'GC08P133041', 'score': 0.44}]
chr8 GH08I132812 132812401 132812800 0.2 [{'connected_gene': 'ENSG00000223697', 'score': 10.49}, {'connected_gene': 'PHF20L1', 'score': 10.48}, {'connected_gene': 'TG', 'score': 9.93}, {'connected_gene': 'GC08M132785', 'score': 0.44}, {'connected_gene': 'GC08P132799', 'score': 0.39}]
chr8 GH08I133206 133206283 133207854 0.49 [{'connected_gene': 'ENSG00000223697', 'score': 19.91}, {'connected_gene': 'PHF20L1', 'score': 11.46}, {'connected_gene': 'LOC102723635', 'score': 0.44}, {'connected_gene': 'GC08P133196', 'score': 0.39}, {'connected_gene': 'WISP1', 'score': 0.37}]
chr8 GH08I132840 132840616 132840685 0.2 [{'connected_gene': 'ENSG00000223697', 'score': 0.77}, {'connected_gene': 'ENSG00000270137', 'score': 0.39}, {'connected_gene': 'PHF20L1', 'score': 0.2}]
chr8 GH08I132792 132792348 132792734 0.86 [{'connected_gene': 'GC08P132799', 'score': 0.44}, {'connected_gene': 'PHF20L1', 'score': 0.37}, {'connected_gene': 'GC08M132785', 'score': 0.31}]
chr8 GH08I132845 132845540 132846704 0.46 [{'connected_gene': 'ENSG00000223697', 'score': 550.77}, {'connected_gene': 'LRRC6', 'score': 15.04}, {'connected_gene': 'TMEM71', 'score': 10.17}, {'connected_gene': 'PHF20L1', 'score': 9.31}, {'connected_gene': 'TG', 'score': 0.34}]

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