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
ENST00000447399 [[9685623, 9685825], [9715692, 9715833], [9746204, 9746432], [9749599, 9749746], [9750889, 9750998], [9754075, 9754257], [9759759, 9759867], [9761727, 9761894], [9769404, 9769603], [9770633, 9770730], [9771410, 9773368]] [[9685726, 9685825], [9715692, 9715833], [9746204, 9746432], [9749599, 9749746], [9750889, 9750998], [9754075, 9754257], [9759759, 9759867], [9761727, 9761894], [9769404, 9769603], [9770633, 9770730], [9771410, 9771517]]
ENST00000318950 [[9685623, 9685825], [9715692, 9715833], [9735012, 9735186], [9746204, 9746432], [9749599, 9749746], [9750889, 9750998], [9754075, 9754257], [9759759, 9759867], [9761727, 9761894], [9769404, 9769603], [9770633, 9770730], [9771410, 9774538]] [[9685726, 9685825], [9715692, 9715833], [9735012, 9735186], [9746204, 9746432], [9749599, 9749746], [9750889, 9750998], [9754075, 9754257], [9759759, 9759867], [9761727, 9761894], [9769404, 9769603], [9770633, 9770730], [9771410, 9771517]]
ENST00000526358 [[9685627, 9685825], [9715692, 9715833], [9724942, 9724995], [9735012, 9735186], [9746204, 9746432], [9749599, 9749618]] [[9685726, 9685825], [9715692, 9715833], [9724942, 9724995], [9735012, 9735169]]
ENST00000531814 [[9685648, 9685825], [9715692, 9715833], [9746204, 9746602]] None
ENST00000524817 [[9685681, 9685825], [9715692, 9715833], [9735012, 9735186], [9746204, 9746432], [9749599, 9749746], [9750889, 9750998], [9754075, 9754257], [9759759, 9759867], [9761727, 9763500]] None
ENST00000534662 [[9741612, 9742030], [9746204, 9746432], [9749599, 9749746], [9750889, 9750998], [9754075, 9754257], [9759759, 9759806]] [[9746237, 9746432], [9749599, 9749746], [9750889, 9750998], [9754075, 9754257], [9759759, 9759806]]
ENST00000534562 [[9748441, 9748502], [9749599, 9749746], [9750889, 9750998], [9754075, 9754257], [9759759, 9759867], [9761727, 9761889], [9771830, 9772038]] [[9748441, 9748502], [9749599, 9749609]]
NM_001297714 [[9685623, 9685825], [9715692, 9715833], [9746204, 9746432], [9749599, 9749746], [9750889, 9750998], [9754075, 9754257], [9759759, 9759867], [9761727, 9761894], [9769404, 9769603], [9770633, 9770730], [9771410, 9774538]] [[9685726, 9685825], [9715692, 9715833], [9746204, 9746432], [9749599, 9749746], [9750889, 9750998], [9754075, 9754257], [9759759, 9759867], [9761727, 9761894], [9769404, 9769603], [9770633, 9770730], [9771410, 9771517]]
NM_015055 [[9685623, 9685825], [9715692, 9715833], [9735012, 9735186], [9746204, 9746432], [9749599, 9749746], [9750889, 9750998], [9754075, 9754257], [9759759, 9759867], [9761727, 9761894], [9769404, 9769603], [9770633, 9770730], [9771410, 9774538]] [[9685726, 9685825], [9715692, 9715833], [9735012, 9735186], [9746204, 9746432], [9749599, 9749746], [9750889, 9750998], [9754075, 9754257], [9759759, 9759867], [9761727, 9761894], [9769404, 9769603], [9770633, 9770730], [9771410, 9771517]]
Promoter
Chrom Start End Description
chr11 9685604 9685706 CAGE_peak_1_at_SWAP70_5end
chr11 9685714 9685715 CAGE_peak_6_at_SWAP70_5end
chr11 9685717 9685723 CAGE_peak_5_at_SWAP70_5end
chr11 9685724 9685742 CAGE_peak_4_at_SWAP70_5end
chr11 9685751 9685772 CAGE_peak_2_at_SWAP70_5end
chr11 9685775 9685791 CAGE_peak_3_at_SWAP70_5end
chr11 9754117 9754125 CAGE_peak_13_at_SWAP70_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I009799 9799868 9805403 1.33 [{'connected_gene': 'SBF2', 'score': 21.43}, {'connected_gene': 'CTR9', 'score': 13.52}, {'connected_gene': 'ZNF143', 'score': 11.88}, {'connected_gene': 'LOC101928008', 'score': 10.75}, {'connected_gene': 'ENSG00000254865', 'score': 9.78}, {'connected_gene': 'SBF2-AS1', 'score': 8.56}, {'connected_gene': 'SWAP70', 'score': 4.4}, {'connected_gene': 'LOC105369149', 'score': 0.34}]
chr11 GH11I009903 9903615 9909113 1.43 [{'connected_gene': 'SBF2', 'score': 16.84}, {'connected_gene': 'LOC101928008', 'score': 9.69}, {'connected_gene': 'ENSG00000250041', 'score': 5.29}, {'connected_gene': 'LOC105376544', 'score': 5.12}, {'connected_gene': 'SWAP70', 'score': 4.49}, {'connected_gene': 'ENSG00000238387', 'score': 4.05}, {'connected_gene': 'ADM', 'score': 3.74}, {'connected_gene': 'ENSG00000254765', 'score': 0.23}, {'connected_gene': 'RNU7-28P', 'score': 0.21}]
chr11 GH11I009564 9564656 9579839 2.67 [{'connected_gene': 'WEE1', 'score': 561.95}, {'connected_gene': 'SNORA3B', 'score': 35.93}, {'connected_gene': 'SWAP70', 'score': 19.86}, {'connected_gene': 'ZNF143', 'score': 19.52}, {'connected_gene': 'TRIM66', 'score': 18.99}, {'connected_gene': 'RPL21P97', 'score': 10.9}, {'connected_gene': 'AKIP1', 'score': 10.18}, {'connected_gene': 'TMEM41B', 'score': 4.39}, {'connected_gene': 'DENND5A', 'score': 3.5}, {'connected_gene': 'ENSG00000238387', 'score': 0.44}, {'connected_gene': 'PIR40365', 'score': 0.37}, {'connected_gene': 'GC11P009430', 'score': 0.11}]
chr11 GH11I009600 9600301 9602689 1.44 [{'connected_gene': 'WEE1', 'score': 5.63}, {'connected_gene': 'SWAP70', 'score': 5.2}, {'connected_gene': 'IPO7', 'score': 4.13}, {'connected_gene': 'ZNF143', 'score': 1.34}, {'connected_gene': 'RPL23AP65', 'score': 0.77}, {'connected_gene': 'GC11P009580', 'score': 0.34}, {'connected_gene': 'GC11P009430', 'score': 0.09}]
chr11 GH11I009611 9611838 9620308 1.83 [{'connected_gene': 'SNORA3B', 'score': 28.99}, {'connected_gene': 'SWAP70', 'score': 24.82}, {'connected_gene': 'RPL21P97', 'score': 24.26}, {'connected_gene': 'WEE1', 'score': 16.75}, {'connected_gene': 'RPL27A', 'score': 14.05}, {'connected_gene': 'ENSG00000238387', 'score': 12.1}, {'connected_gene': 'TRIM66', 'score': 10.75}, {'connected_gene': 'ZNF143', 'score': 3.15}, {'connected_gene': 'DENND5A', 'score': 1.91}, {'connected_gene': 'GC11M009608', 'score': 0.44}, {'connected_gene': 'GC11M009621', 'score': 0.44}, {'connected_gene': 'GC11P009430', 'score': 0.09}]
chr11 GH11I009669 9669893 9670385 0.76 [{'connected_gene': 'NRIP3', 'score': 4.96}, {'connected_gene': 'SWAP70', 'score': 0.44}, {'connected_gene': 'RN7SKP50', 'score': 0.39}, {'connected_gene': 'GC11P009430', 'score': 0.07}]
chr11 GH11I009678 9678214 9679009 0.4 [{'connected_gene': 'NRIP3', 'score': 4.88}, {'connected_gene': 'RN7SKP50', 'score': 0.77}, {'connected_gene': 'SWAP70', 'score': 0.39}, {'connected_gene': 'GC11P009430', 'score': 0.07}]
chr11 GH11I009606 9606982 9607839 0.63 [{'connected_gene': 'RPL23AP65', 'score': 550.77}, {'connected_gene': 'SWAP70', 'score': 21.87}, {'connected_gene': 'ENSG00000238387', 'score': 11.65}, {'connected_gene': 'WEE1', 'score': 11.63}, {'connected_gene': 'RPL21P97', 'score': 11.51}, {'connected_gene': 'GC11M009608', 'score': 0.77}, {'connected_gene': 'GC11P009430', 'score': 0.1}]
chr11 GH11I009595 9595341 9596018 0.2 [{'connected_gene': 'RPL21P97', 'score': 10.79}, {'connected_gene': 'SWAP70', 'score': 10.78}, {'connected_gene': 'GC11P009580', 'score': 0.39}, {'connected_gene': 'RPL23AP65', 'score': 0.39}, {'connected_gene': 'GC11P009430', 'score': 0.1}]
chr11 GH11I009751 9751838 9767698 2.27 [{'connected_gene': 'SBF2-AS1', 'score': 560.37}, {'connected_gene': 'LOC440028', 'score': 550.77}, {'connected_gene': 'CTR9', 'score': 30.56}, {'connected_gene': 'SBF2', 'score': 28.25}, {'connected_gene': 'ENSG00000254397', 'score': 25.8}, {'connected_gene': 'RPL21P97', 'score': 21.96}, {'connected_gene': 'ST5', 'score': 20.5}, {'connected_gene': 'SWAP70', 'score': 17.4}, {'connected_gene': 'TMEM9B-AS1', 'score': 13.59}, {'connected_gene': 'ZNF143', 'score': 10.62}, {'connected_gene': 'ENSG00000238387', 'score': 10.31}, {'connected_gene': 'WEE1', 'score': 10.31}, {'connected_gene': 'NRIP3', 'score': 5.73}, {'connected_gene': 'LOC105376544', 'score': 4.39}, {'connected_gene': 'PIR37097', 'score': 0.77}, {'connected_gene': 'GC11M009781', 'score': 0.34}, {'connected_gene': 'PIR54730', 'score': 0.34}]
chr11 GH11I009701 9701855 9704081 1.17 [{'connected_gene': 'SBF2-AS1', 'score': 7.31}, {'connected_gene': 'RN7SKP50', 'score': 0.34}, {'connected_gene': 'SWAP70', 'score': 0.28}, {'connected_gene': 'GC11P009745', 'score': 0.26}, {'connected_gene': 'GC11P009430', 'score': 0.06}]
chr11 GH11I009714 9714374 9714959 0.2 [{'connected_gene': 'SBF2-AS1', 'score': 7.14}, {'connected_gene': 'RN7SKP50', 'score': 0.29}, {'connected_gene': 'GC11P009745', 'score': 0.29}, {'connected_gene': 'SWAP70', 'score': 0.23}, {'connected_gene': 'GC11P009430', 'score': 0.06}]
chr11 GH11I009708 9708231 9709477 0.71 [{'connected_gene': 'SBF2-AS1', 'score': 7.34}, {'connected_gene': 'RN7SKP50', 'score': 0.31}, {'connected_gene': 'GC11P009745', 'score': 0.28}, {'connected_gene': 'SWAP70', 'score': 0.26}, {'connected_gene': 'GC11P009430', 'score': 0.06}]
chr11 GH11I009711 9711189 9712163 0.66 [{'connected_gene': 'SBF2-AS1', 'score': 7.34}, {'connected_gene': 'RN7SKP50', 'score': 0.29}, {'connected_gene': 'GC11P009745', 'score': 0.29}, {'connected_gene': 'SWAP70', 'score': 0.25}, {'connected_gene': 'GC11P009430', 'score': 0.06}]
chr11 GH11I009709 9709980 9711004 0.31 [{'connected_gene': 'SBF2-AS1', 'score': 7.54}, {'connected_gene': 'RN7SKP50', 'score': 0.31}, {'connected_gene': 'GC11P009745', 'score': 0.29}, {'connected_gene': 'SWAP70', 'score': 0.25}, {'connected_gene': 'GC11P009430', 'score': 0.06}]
chr11 GH11I009361 9361045 9365986 1.66 [{'connected_gene': 'DENND5A', 'score': 31.56}, {'connected_gene': 'NRIP3', 'score': 28.47}, {'connected_gene': 'SNORA3B', 'score': 16.48}, {'connected_gene': 'ZNF143', 'score': 15.37}, {'connected_gene': 'AKIP1', 'score': 12.18}, {'connected_gene': 'RPL21P97', 'score': 11.44}, {'connected_gene': 'RPL27A', 'score': 11.27}, {'connected_gene': 'IPO7', 'score': 9.64}, {'connected_gene': 'TMEM41B', 'score': 6.17}, {'connected_gene': 'TMEM9B', 'score': 2.9}, {'connected_gene': 'SWAP70', 'score': 1.25}, {'connected_gene': 'GC11P009354', 'score': 0.44}]
chr11 GH11I009748 9748054 9749144 1.5 [{'connected_gene': 'SWAP70', 'score': 17.6}, {'connected_gene': 'WEE1', 'score': 12.96}, {'connected_gene': 'RPL21P97', 'score': 11.97}, {'connected_gene': 'ENSG00000238387', 'score': 11.43}, {'connected_gene': 'GC11P009745', 'score': 0.77}, {'connected_gene': 'PIR37097', 'score': 0.44}]
chr11 GH11I009661 9661551 9665800 2.33 [{'connected_gene': 'SWAP70', 'score': 562.96}, {'connected_gene': 'RPL23AP65', 'score': 4.86}, {'connected_gene': 'SBF2-AS1', 'score': 4.38}, {'connected_gene': 'ZNF143', 'score': 3.34}, {'connected_gene': 'RPL21P97', 'score': 0.77}, {'connected_gene': 'GC11P009430', 'score': 0.07}]
chr11 GH11I009737 9737734 9741563 1 [{'connected_gene': 'SWAP70', 'score': 18.7}, {'connected_gene': 'RPL21P97', 'score': 12.73}, {'connected_gene': 'WEE1', 'score': 10.66}, {'connected_gene': 'ENSG00000238387', 'score': 10.66}, {'connected_gene': 'SBF2', 'score': 7.88}, {'connected_gene': 'GC11P009745', 'score': 0.44}, {'connected_gene': 'RN7SKP50', 'score': 0.22}]
chr11 GH11I009639 9639001 9640858 0.99 [{'connected_gene': 'SWAP70', 'score': 22.66}, {'connected_gene': 'RPL21P97', 'score': 13.58}, {'connected_gene': 'ENSG00000238387', 'score': 10.87}, {'connected_gene': 'WEE1', 'score': 10.87}, {'connected_gene': 'RPL23AP65', 'score': 4.86}, {'connected_gene': 'ENSG00000255463', 'score': 0.44}, {'connected_gene': 'GC11P009661', 'score': 0.34}, {'connected_gene': 'GC11P009430', 'score': 0.08}]
chr11 GH11I009686 9686469 9694511 1.48 [{'connected_gene': 'SWAP70', 'score': 21.42}, {'connected_gene': 'RPL21P97', 'score': 12.47}, {'connected_gene': 'ENSG00000238387', 'score': 10.64}, {'connected_gene': 'WEE1', 'score': 10.63}, {'connected_gene': 'SBF2-AS1', 'score': 5.69}, {'connected_gene': 'LOC105376544', 'score': 5.52}, {'connected_gene': 'RN7SKP50', 'score': 0.44}, {'connected_gene': 'GC11P009745', 'score': 0.23}, {'connected_gene': 'GC11P009430', 'score': 0.07}]
chr11 GH11I009750 9750363 9750993 0.58 [{'connected_gene': 'SWAP70', 'score': 16.36}, {'connected_gene': 'RPL21P97', 'score': 11.51}, {'connected_gene': 'WEE1', 'score': 11.43}, {'connected_gene': 'ENSG00000238387', 'score': 11.43}, {'connected_gene': 'GC11P009745', 'score': 0.44}, {'connected_gene': 'PIR37097', 'score': 0.44}]
chr11 GH11I009632 9632876 9634674 0.2 [{'connected_gene': 'SWAP70', 'score': 19.58}, {'connected_gene': 'RPL21P97', 'score': 13.55}, {'connected_gene': 'ENSG00000238387', 'score': 10.88}, {'connected_gene': 'WEE1', 'score': 10.87}, {'connected_gene': 'ENSG00000255463', 'score': 0.77}, {'connected_gene': 'GC11P009661', 'score': 0.31}, {'connected_gene': 'GC11P009430', 'score': 0.08}]
chr11 GH11I009625 9625401 9628285 1.29 [{'connected_gene': 'SWAP70', 'score': 22.04}, {'connected_gene': 'RPL21P97', 'score': 12.49}, {'connected_gene': 'RPL23AP65', 'score': 4.9}, {'connected_gene': 'ENSG00000255463', 'score': 0.77}, {'connected_gene': 'GC11M009621', 'score': 0.44}, {'connected_gene': 'GC11P009430', 'score': 0.08}]
chr11 GH11I009715 9715694 9721833 1.28 [{'connected_gene': 'SWAP70', 'score': 11.91}, {'connected_gene': 'RPL21P97', 'score': 11.9}, {'connected_gene': 'SBF2-AS1', 'score': 7.37}, {'connected_gene': 'GC11P009745', 'score': 0.31}, {'connected_gene': 'RN7SKP50', 'score': 0.28}]
chr11 GH11I009726 9726160 9727621 0.97 [{'connected_gene': 'SWAP70', 'score': 11.91}, {'connected_gene': 'RPL21P97', 'score': 11.91}, {'connected_gene': 'SBF2-AS1', 'score': 7.59}, {'connected_gene': 'GC11P009745', 'score': 0.37}, {'connected_gene': 'RN7SKP50', 'score': 0.25}]
chr11 GH11I009736 9736454 9736603 0.43 [{'connected_gene': 'SWAP70', 'score': 12.79}, {'connected_gene': 'RPL21P97', 'score': 12.78}, {'connected_gene': 'GC11P009745', 'score': 0.44}, {'connected_gene': 'RN7SKP50', 'score': 0.22}]
chr11 GH11I009666 9666801 9667916 0.71 [{'connected_gene': 'SWAP70', 'score': 10.43}, {'connected_gene': 'RN7SKP50', 'score': 0.39}, {'connected_gene': 'GC11P009430', 'score': 0.07}]
chr11 GH11I009667 9666001 9666400 0.52 [{'connected_gene': 'SWAP70', 'score': 0.77}, {'connected_gene': 'RN7SKP50', 'score': 0.39}, {'connected_gene': 'GC11P009430', 'score': 0.07}]
chr11 GH11I009656 9656084 9657923 0.31 [{'connected_gene': 'SWAP70', 'score': 10.21}, {'connected_gene': 'GC11P009661', 'score': 0.77}, {'connected_gene': 'ENSG00000255463', 'score': 0.31}, {'connected_gene': 'GC11P009430', 'score': 0.07}]
chr11 GH11I009681 9681601 9682703 1.15 [{'connected_gene': 'RN7SKP50', 'score': 550.77}, {'connected_gene': 'RPL21P97', 'score': 12.75}, {'connected_gene': 'SWAP70', 'score': 11.21}, {'connected_gene': 'WEE1', 'score': 1.37}, {'connected_gene': 'GC11P009745', 'score': 0.21}, {'connected_gene': 'GC11P009430', 'score': 0.07}]
chr11 GH11I009699 9699594 9699785 0.51 [{'connected_gene': 'RN7SKP50', 'score': 0.37}, {'connected_gene': 'SWAP70', 'score': 0.28}, {'connected_gene': 'GC11P009745', 'score': 0.25}, {'connected_gene': 'GC11P009430', 'score': 0.06}]
chr11 GH11I009651 9651585 9652992 1.27 [{'connected_gene': 'ENSG00000238387', 'score': 10.68}, {'connected_gene': 'WEE1', 'score': 10.67}, {'connected_gene': 'SWAP70', 'score': 7.91}, {'connected_gene': 'GC11P009661', 'score': 0.44}, {'connected_gene': 'ENSG00000255463', 'score': 0.34}, {'connected_gene': 'GC11P009430', 'score': 0.07}]
chr11 GH11I009674 9674986 9676483 0.89 [{'connected_gene': 'ENSG00000254397', 'score': 18.15}, {'connected_gene': 'TMEM9B-AS1', 'score': 15.22}, {'connected_gene': 'ST5', 'score': 12.62}, {'connected_gene': 'ENSG00000238387', 'score': 10.17}, {'connected_gene': 'WEE1', 'score': 10.16}, {'connected_gene': 'SWAP70', 'score': 9.33}, {'connected_gene': 'NRIP3', 'score': 6.35}, {'connected_gene': 'RN7SKP50', 'score': 0.44}, {'connected_gene': 'GC11P009430', 'score': 0.07}]
chr11 GH11I009629 9629095 9629729 0.63 [{'connected_gene': 'ENSG00000255463', 'score': 550.77}, {'connected_gene': 'SWAP70', 'score': 19.79}, {'connected_gene': 'RPL21P97', 'score': 13.17}, {'connected_gene': 'GC11M009621', 'score': 0.44}, {'connected_gene': 'GC11P009430', 'score': 0.08}]
chr11 GH11I009744 9744764 9746448 0.92 [{'connected_gene': 'GC11P009745', 'score': 550.77}, {'connected_gene': 'SWAP70', 'score': 17.57}, {'connected_gene': 'RPL21P97', 'score': 11.97}, {'connected_gene': 'PIR37097', 'score': 0.39}]