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
ENST00000355178 [[81267843, 81268125], [81283377, 81283497], [81354313, 81354421], [81443008, 81443936]] [[81283389, 81283497], [81354313, 81354421], [81443008, 81443170]]
ENST00000282185 [[81267843, 81268125], [81283377, 81283497], [81354313, 81354421], [81460217, 81460356], [81474308, 81474406], [81548380, 81548478], [81549132, 81549248], [81549886, 81551958]] [[81283389, 81283497], [81354313, 81354421], [81460217, 81460356], [81474308, 81474406], [81548380, 81548478], [81549132, 81549244]]
ENST00000458350 [[81267869, 81268125], [81272011, 81272146], [81283377, 81283497], [81354313, 81354421], [81460217, 81460356], [81474308, 81474406], [81548380, 81548478], [81549132, 81549248], [81549886, 81550611]] [[81283389, 81283497], [81354313, 81354421], [81460217, 81460356], [81474308, 81474406], [81548380, 81548478], [81549132, 81549244]]
ENST00000513443 [[81267975, 81268410], [81283377, 81283497], [81354313, 81354421], [81443008, 81443323]] [[81283389, 81283497], [81354313, 81354421], [81443008, 81443170]]
ENST00000504770 [[81268079, 81268125], [81283377, 81283497], [81354313, 81354421], [81460217, 81460356], [81474308, 81474406], [81538615, 81538701], [81548380, 81548478], [81549132, 81549250]] [[81283389, 81283497], [81354313, 81354421], [81460217, 81460356], [81474308, 81474406], [81538615, 81538678]]
ENST00000513634 [[81283376, 81283497], [81354313, 81354421], [81460217, 81460356], [81474308, 81474406], [81548380, 81548532]] [[81283389, 81283497], [81354313, 81354421], [81460217, 81460356], [81474308, 81474406], [81548380, 81548482]]
ENST00000508814 [[81407210, 81407274], [81474308, 81474406], [81548380, 81548478], [81571963, 81572116]] None
ENST00000514253 [[81460263, 81460356], [81474308, 81474406], [81571963, 81572676]] None
ENST00000510085 [[81267844, 81268125], [81268973, 81269120], [81283377, 81283498]] [[81283389, 81283498]]
NM_031482 [[81267843, 81268125], [81283377, 81283497], [81354313, 81354421], [81460217, 81460356], [81474308, 81474406], [81548380, 81548478], [81549132, 81549248], [81549886, 81551213]] [[81283389, 81283497], [81354313, 81354421], [81460217, 81460356], [81474308, 81474406], [81548380, 81548478], [81549132, 81549244]]
NM_001131028 [[81267843, 81268125], [81272011, 81272146], [81283377, 81283497], [81354313, 81354421], [81460217, 81460356], [81474308, 81474406], [81548380, 81548478], [81549132, 81549248], [81549886, 81551213]] [[81283389, 81283497], [81354313, 81354421], [81460217, 81460356], [81474308, 81474406], [81548380, 81548478], [81549132, 81549244]]
Promoter
Chrom Start End Description
chr5 81267834 81267868 CAGE_peak_1_at_ATG10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I082274 82274157 82275562 0.74 [{'connected_gene': 'ATP6AP1L', 'score': 77.22}, {'connected_gene': 'ZCCHC9', 'score': 24.81}, {'connected_gene': 'CKMT2-AS1', 'score': 18.99}, {'connected_gene': 'GC05M082258', 'score': 0.77}, {'connected_gene': 'GC05P082278', 'score': 0.77}, {'connected_gene': 'RPS23', 'score': 0.77}, {'connected_gene': 'ENSG00000251374', 'score': 0.44}, {'connected_gene': 'ATG10', 'score': 0.06}]
chr5 GH05I082404 82404156 82407487 1.61 [{'connected_gene': 'ATP6AP1L', 'score': 29.31}, {'connected_gene': 'ATG10', 'score': 11.98}, {'connected_gene': 'RPS23', 'score': 8.35}, {'connected_gene': 'LOC105379052', 'score': 5.68}, {'connected_gene': 'PIR35354', 'score': 0.31}, {'connected_gene': 'GC05P082523', 'score': 0.13}, {'connected_gene': 'GC05P082524', 'score': 0.13}]
chr5 GH05I081778 81778394 81780343 1.23 [{'connected_gene': 'ATP6AP1L', 'score': 5.41}, {'connected_gene': 'ATG10', 'score': 5.39}, {'connected_gene': 'SSBP2', 'score': 0.31}, {'connected_gene': 'ENSG00000249483', 'score': 0.19}]
chr5 GH05I082402 82402388 82404064 0.63 [{'connected_gene': 'ATP6AP1L', 'score': 7.69}, {'connected_gene': 'ATG10', 'score': 6.46}, {'connected_gene': 'LOC105379052', 'score': 4.94}, {'connected_gene': 'PIR35354', 'score': 0.31}, {'connected_gene': 'GC05P082523', 'score': 0.13}, {'connected_gene': 'GC05P082524', 'score': 0.13}]
chr5 GH05I082273 82273082 82273231 0.43 [{'connected_gene': 'ATP6AP1L', 'score': 46.96}, {'connected_gene': 'GC05P082278', 'score': 0.44}, {'connected_gene': 'GC05M082258', 'score': 0.44}, {'connected_gene': 'ENSG00000251374', 'score': 0.44}, {'connected_gene': 'ATG10', 'score': 0.06}]
chr5 GH05I082276 82276179 82279774 2.02 [{'connected_gene': 'ATP6AP1L', 'score': 627.64}, {'connected_gene': 'RPS23', 'score': 560.73}, {'connected_gene': 'GC05M082258', 'score': 550.77}, {'connected_gene': 'GC05P082278', 'score': 550.77}, {'connected_gene': 'ZCCHC9', 'score': 36.71}, {'connected_gene': 'ATG10', 'score': 22.77}, {'connected_gene': 'CKMT2-AS1', 'score': 10.43}, {'connected_gene': 'ENSG00000251374', 'score': 0.39}]
chr5 GH05I082386 82386084 82389916 1.44 [{'connected_gene': 'ATP6AP1L', 'score': 24.76}, {'connected_gene': 'RPS23', 'score': 11.75}, {'connected_gene': 'ATG10', 'score': 10.11}, {'connected_gene': 'PIR35354', 'score': 0.44}, {'connected_gene': 'GC05P082523', 'score': 0.12}, {'connected_gene': 'GC05P082524', 'score': 0.12}]
chr5 GH05I081970 81970355 81973197 2.05 [{'connected_gene': 'ATG10', 'score': 602.27}, {'connected_gene': 'ATP6AP1L', 'score': 16.97}, {'connected_gene': 'RPS23', 'score': 14.43}, {'connected_gene': 'SEM1P1', 'score': 0.18}]
chr5 GH05I082412 82412711 82414535 0.99 [{'connected_gene': 'ATG10', 'score': 10.66}, {'connected_gene': 'ATP6AP1L', 'score': 9.39}, {'connected_gene': 'RPS23', 'score': 7.2}, {'connected_gene': 'PIR35354', 'score': 0.28}, {'connected_gene': 'GC05P082523', 'score': 0.14}, {'connected_gene': 'GC05P082524', 'score': 0.14}]
chr5 GH05I082340 82340034 82340626 0.4 [{'connected_gene': 'ATG10', 'score': 25.97}, {'connected_gene': 'ATP6AP1L', 'score': 18.36}, {'connected_gene': 'GC05M082354', 'score': 0.34}, {'connected_gene': 'GC05M082258', 'score': 0.21}]
chr5 GH05I082319 82319227 82319875 0.46 [{'connected_gene': 'ATG10', 'score': 18.36}, {'connected_gene': 'GC05M082258', 'score': 0.28}, {'connected_gene': 'ATP6AP1L', 'score': 0.26}, {'connected_gene': 'GC05M082354', 'score': 0.25}]
chr5 GH05I082356 82356486 82358711 1.67 [{'connected_gene': 'ATG10', 'score': 25.74}, {'connected_gene': 'RPS23', 'score': 9.93}, {'connected_gene': 'GC05M082354', 'score': 0.44}, {'connected_gene': 'ATP6AP1L', 'score': 0.18}, {'connected_gene': 'GC05M082258', 'score': 0.18}]
chr5 GH05I081856 81856735 81858056 0.85 [{'connected_gene': 'ATG10', 'score': 11.67}, {'connected_gene': 'ATG10-AS1', 'score': 9.92}, {'connected_gene': 'ATP6AP1L', 'score': 7.82}, {'connected_gene': 'ENSG00000249483', 'score': 0.44}, {'connected_gene': 'SEM1P1', 'score': 0.28}]
chr5 GH05I081979 81979972 81981248 0.52 [{'connected_gene': 'ATG10', 'score': 30.91}, {'connected_gene': 'ATG10-AS1', 'score': 10.51}, {'connected_gene': 'ATP6AP1L', 'score': 7.75}, {'connected_gene': 'ATG10-IT1', 'score': 0.39}]
chr5 GH05I082018 82018600 82019000 1 [{'connected_gene': 'ATG10', 'score': 28.86}, {'connected_gene': 'ATG10-AS1', 'score': 10.66}, {'connected_gene': 'PPIAP11', 'score': 0.44}, {'connected_gene': 'GC05P082067', 'score': 0.25}]
chr5 GH05I082031 82031202 82032190 0.46 [{'connected_gene': 'ATG10', 'score': 21.58}, {'connected_gene': 'ATG10-AS1', 'score': 12.4}, {'connected_gene': 'PPIAP11', 'score': 0.34}, {'connected_gene': 'GC05P082067', 'score': 0.28}]
chr5 GH05I081898 81898001 81899200 0.56 [{'connected_gene': 'ATG10', 'score': 19.93}, {'connected_gene': 'ATG10-AS1', 'score': 10.01}, {'connected_gene': 'SEM1P1', 'score': 0.44}]
chr5 GH05I082105 82105601 82107000 0.52 [{'connected_gene': 'ATG10', 'score': 21.07}, {'connected_gene': 'ATG10-AS1', 'score': 11.9}, {'connected_gene': 'PIR51236', 'score': 0.31}, {'connected_gene': 'GC05P082094', 'score': 0.31}, {'connected_gene': 'GC05P082140', 'score': 0.29}]
chr5 GH05I082163 82163309 82166651 1.07 [{'connected_gene': 'ATG10', 'score': 18.28}, {'connected_gene': 'ATG10-AS1', 'score': 10.9}, {'connected_gene': 'GC05M082134', 'score': 0.39}, {'connected_gene': 'GC05P082140', 'score': 0.34}]
chr5 GH05I082634 82634462 82636489 1.11 [{'connected_gene': 'ATG10', 'score': 5.47}, {'connected_gene': 'GC05P082633', 'score': 0.77}, {'connected_gene': 'GC05M082700', 'score': 0.2}]
chr5 GH05I081748 81748306 81752772 2.3 [{'connected_gene': 'SSBP2', 'score': 550.77}, {'connected_gene': 'ZCCHC9', 'score': 28.47}, {'connected_gene': 'CKMT2-AS1', 'score': 11.71}, {'connected_gene': 'RPS23', 'score': 11.63}, {'connected_gene': 'ATG10', 'score': 10.14}, {'connected_gene': 'GC05M081517', 'score': 0.07}]
chr5 GH05I082622 82622130 82624236 0.81 [{'connected_gene': 'VCAN', 'score': 5.65}, {'connected_gene': 'ATG10', 'score': 4.75}, {'connected_gene': 'GC05P082633', 'score': 0.39}, {'connected_gene': 'ENSG00000248870', 'score': 0.28}]
chr5 GH05I081212 81212252 81212989 0.6 [{'connected_gene': 'CKMT2', 'score': 11.8}, {'connected_gene': 'ENSG00000249772', 'score': 10.06}, {'connected_gene': 'ENSG00000248794', 'score': 9.84}, {'connected_gene': 'ATG10', 'score': 4.79}, {'connected_gene': 'GC05P081229', 'score': 0.39}, {'connected_gene': 'CKMT2-AS1', 'score': 0.17}, {'connected_gene': 'RASGRF2', 'score': 0.07}]
chr5 GH05I081954 81954751 81955283 0.88 [{'connected_gene': 'ATG10-AS1', 'score': 10.78}, {'connected_gene': 'ATP6AP1L', 'score': 5.01}, {'connected_gene': 'ATG10', 'score': 0.37}, {'connected_gene': 'SEM1P1', 'score': 0.21}]
chr5 GH05I082169 82169318 82169540 0.38 [{'connected_gene': 'ATG10-AS1', 'score': 10.83}, {'connected_gene': 'ATP6AP1L', 'score': 2.18}, {'connected_gene': 'GC05M082134', 'score': 0.44}, {'connected_gene': 'GC05P082140', 'score': 0.31}, {'connected_gene': 'ATG10', 'score': 0.08}]
chr5 GH05I082100 82100822 82100931 0.52 [{'connected_gene': 'ATG10-AS1', 'score': 12.42}, {'connected_gene': 'PIR51236', 'score': 0.34}, {'connected_gene': 'GC05P082094', 'score': 0.34}, {'connected_gene': 'GC05P082140', 'score': 0.28}, {'connected_gene': 'ATG10', 'score': 0.13}]
chr5 GH05I082183 82183962 82184071 0.6 [{'connected_gene': 'ATG10-AS1', 'score': 10.17}, {'connected_gene': 'GC05M082134', 'score': 0.44}, {'connected_gene': 'GC05P082216', 'score': 0.29}, {'connected_gene': 'ATG10', 'score': 0.08}]
chr5 GH05I082158 82158624 82159802 0.6 [{'connected_gene': 'ATG10-AS1', 'score': 10.41}, {'connected_gene': 'GC05M082134', 'score': 0.37}, {'connected_gene': 'GC05P082140', 'score': 0.37}, {'connected_gene': 'ATG10', 'score': 0.09}]
chr5 GH05I082225 82225601 82225801 0.74 [{'connected_gene': 'ATG10-AS1', 'score': 10.16}, {'connected_gene': 'GC05M082232', 'score': 0.44}, {'connected_gene': 'GC05P082216', 'score': 0.44}, {'connected_gene': 'ATG10', 'score': 0.07}]
chr5 GH05I082107 82107382 82107531 0.52 [{'connected_gene': 'ATG10-AS1', 'score': 11.9}, {'connected_gene': 'PIR51236', 'score': 0.31}, {'connected_gene': 'GC05P082094', 'score': 0.31}, {'connected_gene': 'GC05P082140', 'score': 0.29}, {'connected_gene': 'ATG10', 'score': 0.12}]
chr5 GH05I082023 82023063 82025864 0.69 [{'connected_gene': 'ATG10-AS1', 'score': 12.38}, {'connected_gene': 'PPIAP11', 'score': 0.39}, {'connected_gene': 'GC05P082067', 'score': 0.26}, {'connected_gene': 'ATG10', 'score': 0.23}]
chr5 GH05I082364 82364663 82366729 1.49 [{'connected_gene': 'GC05M082354', 'score': 550.77}, {'connected_gene': 'ATP6AP1L', 'score': 14.83}, {'connected_gene': 'ATG10', 'score': 8.65}, {'connected_gene': 'PIR35354', 'score': 0.39}]
chr5 GH05I082044 82044122 82044271 0.2 [{'connected_gene': 'GC05P082067', 'score': 0.34}, {'connected_gene': 'PPIAP11', 'score': 0.29}, {'connected_gene': 'ATG10', 'score': 0.19}]
chr5 GH05I082173 82173681 82175000 1.23 [{'connected_gene': 'GC05M082134', 'score': 550.77}, {'connected_gene': 'ATG10-AS1', 'score': 10.83}, {'connected_gene': 'GC05P082140', 'score': 0.29}, {'connected_gene': 'ATG10', 'score': 0.08}]