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
ENST00000258173 [[75572014, 75574072], [75575247, 75575353], [75576499, 75576581], [75579249, 75579393], [75579723, 75579852], [75589701, 75589871], [75589968, 75590184]] [[75573891, 75574072], [75575247, 75575353], [75576499, 75576581], [75579249, 75579393], [75579723, 75579852], [75589701, 75589871], [75589968, 75590107]]
ENST00000562410 [[75572033, 75574072], [75575247, 75575353], [75576499, 75576581], [75579249, 75579393], [75579723, 75579975], [75589701, 75589871], [75589968, 75590166]] [[75579963, 75579975], [75589701, 75589871], [75589968, 75590107]]
ENST00000568377 [[75572048, 75574072], [75575247, 75575353], [75576499, 75576581], [75579249, 75579393], [75579723, 75579852], [75589701, 75590136]] [[75573891, 75574072], [75575247, 75575353], [75576499, 75576581], [75579249, 75579393], [75579723, 75579852], [75589701, 75590097]]
ENST00000564318 [[75572247, 75574072], [75575247, 75575942]] None
ENST00000565067 [[75573651, 75574072], [75575247, 75575353], [75576499, 75576581], [75579723, 75579852], [75589701, 75589871], [75589968, 75590138]] [[75573891, 75574072], [75575247, 75575353], [75576499, 75576581], [75579723, 75579852], [75589701, 75589871], [75589968, 75590107]]
ENST00000570006 [[75573906, 75574072], [75575247, 75575353], [75576499, 75576581], [75579249, 75579393], [75579761, 75579852], [75589701, 75589871], [75589968, 75590131]] [[75576543, 75576581], [75579249, 75579393], [75579761, 75579852], [75589701, 75589871], [75589968, 75590107]]
ENST00000569294 [[75574018, 75574072], [75575247, 75575353], [75576499, 75576581], [75579249, 75579393], [75579723, 75579852], [75589116, 75589169]] None
ENST00000564576 [[75575271, 75575353], [75576452, 75576581], [75589701, 75589871], [75589968, 75590143]] None
ENST00000561809 [[75579874, 75579975], [75589701, 75590160]] None
NM_001077416 [[75572014, 75574072], [75575247, 75575353], [75576499, 75576581], [75579249, 75579393], [75579723, 75579852], [75589701, 75590184]] [[75573891, 75574072], [75575247, 75575353], [75576499, 75576581], [75579249, 75579393], [75579723, 75579852], [75589701, 75590169]]
NR_074083 [[75572014, 75574072], [75575247, 75575353], [75576499, 75576581], [75579249, 75579393], [75579723, 75579975], [75589701, 75589871], [75589968, 75590184]] None
NM_001077418 [[75572014, 75574072], [75575247, 75575353], [75576499, 75576581], [75579249, 75579393], [75579723, 75579852], [75589701, 75589871], [75589968, 75590184]] [[75573891, 75574072], [75575247, 75575353], [75576499, 75576581], [75579249, 75579393], [75579723, 75579852], [75589701, 75589871], [75589968, 75590107]]
Promoter
Chrom Start End Description
chr16 75590114 75590175 CAGE_peak_1_at_TMEM231_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I074997 74997918 75006412 2.7 [{'connected_gene': 'ZNRF1', 'score': 556.89}, {'connected_gene': 'WDR59', 'score': 556.1}, {'connected_gene': 'ENSG00000214331', 'score': 20.13}, {'connected_gene': 'ENSG00000261783', 'score': 14.21}, {'connected_gene': 'ENSG00000207525', 'score': 12.35}, {'connected_gene': 'RFWD3', 'score': 11.81}, {'connected_gene': 'TMEM231', 'score': 9.94}, {'connected_gene': 'GLG1', 'score': 9.72}, {'connected_gene': 'ZFP1', 'score': 4.17}, {'connected_gene': 'FA2H', 'score': 1.54}, {'connected_gene': 'BCAR1', 'score': 1.52}, {'connected_gene': 'ENSG00000247033', 'score': 0.14}]
chr16 GH16I075501 75501489 75502415 0.78 [{'connected_gene': 'TMEM231', 'score': 19.18}, {'connected_gene': 'ADAT1', 'score': 16.93}, {'connected_gene': 'CHST5', 'score': 11.87}, {'connected_gene': 'GABARAPL2', 'score': 10.8}, {'connected_gene': 'RNU6-758P', 'score': 9.78}, {'connected_gene': 'ENSG00000273971', 'score': 0.77}, {'connected_gene': 'LOC100420067', 'score': 0.39}]
chr16 GH16I075554 75554783 75557187 2.01 [{'connected_gene': 'TMEM231', 'score': 556.09}, {'connected_gene': 'ENSG00000276408', 'score': 550.77}, {'connected_gene': 'ADAT1', 'score': 29.49}, {'connected_gene': 'CHST5', 'score': 7.35}, {'connected_gene': 'ENSG00000260092', 'score': 0.39}, {'connected_gene': 'ENSG00000259992', 'score': 0.23}]
chr16 GH16I074767 74767669 74770615 0.43 [{'connected_gene': 'FA2H', 'score': 9.97}, {'connected_gene': 'TMEM231', 'score': 9.93}, {'connected_gene': 'MLKL', 'score': 0.2}]
chr16 GH16I074577 74577546 74579110 1.13 [{'connected_gene': 'RFWD3', 'score': 34.26}, {'connected_gene': 'ENSG00000260884', 'score': 33.0}, {'connected_gene': 'GLG1', 'score': 26.75}, {'connected_gene': 'RPL21P118', 'score': 25.6}, {'connected_gene': 'ENSG00000259972', 'score': 22.15}, {'connected_gene': 'WDR59', 'score': 21.4}, {'connected_gene': 'ENSG00000261079', 'score': 15.9}, {'connected_gene': 'NPIPB15', 'score': 13.13}, {'connected_gene': 'RNU6-237P', 'score': 10.65}, {'connected_gene': 'TMEM231', 'score': 9.93}, {'connected_gene': 'GC16P074552', 'score': 0.31}]
chr16 GH16I075646 75646196 75652220 2.26 [{'connected_gene': 'TERF2IP', 'score': 550.77}, {'connected_gene': 'KARS', 'score': 550.77}, {'connected_gene': 'ADAT1', 'score': 52.15}, {'connected_gene': 'BCAR1', 'score': 11.96}, {'connected_gene': 'TMEM231', 'score': 5.85}, {'connected_gene': 'CHST5', 'score': 4.89}, {'connected_gene': 'GC16P075674', 'score': 0.31}]
chr16 GH16I074605 74605200 74609516 2.08 [{'connected_gene': 'GLG1', 'score': 550.77}, {'connected_gene': 'RFWD3', 'score': 47.49}, {'connected_gene': 'ENSG00000259972', 'score': 36.19}, {'connected_gene': 'RPL21P118', 'score': 30.93}, {'connected_gene': 'ENSG00000260884', 'score': 21.88}, {'connected_gene': 'ENSG00000214331', 'score': 15.51}, {'connected_gene': 'BCAR1', 'score': 14.47}, {'connected_gene': 'TMEM231', 'score': 10.65}, {'connected_gene': 'WDR59', 'score': 10.36}, {'connected_gene': 'CLEC18B', 'score': 8.22}, {'connected_gene': 'HSPE1P7', 'score': 0.44}]
chr16 GH16I075542 75542324 75542901 0.2 [{'connected_gene': 'CHST5', 'score': 8.09}, {'connected_gene': 'PIR47522', 'score': 0.77}, {'connected_gene': 'ENSG00000260092', 'score': 0.77}, {'connected_gene': 'TMEM231', 'score': 0.39}, {'connected_gene': 'ENSG00000259992', 'score': 0.2}]
chr16 GH16I075619 75619263 75624113 2.09 [{'connected_gene': 'ADAT1', 'score': 583.29}, {'connected_gene': 'BCAR1', 'score': 11.96}, {'connected_gene': 'GABARAPL2', 'score': 11.44}, {'connected_gene': 'TMEM231', 'score': 6.8}, {'connected_gene': 'CHST5', 'score': 5.13}, {'connected_gene': 'ENSG00000259992', 'score': 0.39}]
chr16 GH16I075652 75652796 75654711 0.38 [{'connected_gene': 'ADAT1', 'score': 12.11}, {'connected_gene': 'TMEM231', 'score': 5.86}, {'connected_gene': 'TERF2IP', 'score': 0.44}, {'connected_gene': 'KARS', 'score': 0.44}, {'connected_gene': 'GC16P075674', 'score': 0.34}]
chr16 GH16I075549 75549857 75551241 1.14 [{'connected_gene': 'ADAT1', 'score': 46.14}, {'connected_gene': 'TMEM231', 'score': 16.31}, {'connected_gene': 'TERF2IP', 'score': 13.3}, {'connected_gene': 'ZFP1', 'score': 11.14}, {'connected_gene': 'ENSG00000260092', 'score': 0.44}, {'connected_gene': 'ENSG00000259992', 'score': 0.22}]
chr16 GH16I075626 75626780 75629192 0.56 [{'connected_gene': 'ADAT1', 'score': 28.51}, {'connected_gene': 'TMEM231', 'score': 5.34}, {'connected_gene': 'PIR52633', 'score': 0.77}, {'connected_gene': 'KARS', 'score': 0.34}]
chr16 GH16I075615 75615668 75617621 0.57 [{'connected_gene': 'ADAT1', 'score': 29.56}, {'connected_gene': 'TMEM231', 'score': 12.05}, {'connected_gene': 'CHST5', 'score': 12.01}, {'connected_gene': 'GABARAPL2', 'score': 11.3}, {'connected_gene': 'ENSG00000259992', 'score': 0.44}]
chr16 GH16I075560 75559249 75560888 1.03 [{'connected_gene': 'ADAT1', 'score': 50.11}, {'connected_gene': 'TMEM231', 'score': 7.42}, {'connected_gene': 'ENSG00000276408', 'score': 0.77}, {'connected_gene': 'GABARAPL2', 'score': 0.44}, {'connected_gene': 'ENSG00000259992', 'score': 0.25}]
chr16 GH16I075624 75624483 75625692 0.95 [{'connected_gene': 'ADAT1', 'score': 550.77}, {'connected_gene': 'TMEM231', 'score': 5.51}, {'connected_gene': 'PIR52633', 'score': 0.44}]
chr16 GH16I075640 75640027 75641771 0.52 [{'connected_gene': 'ADAT1', 'score': 49.92}, {'connected_gene': 'GABARAPL2', 'score': 11.01}, {'connected_gene': 'TMEM231', 'score': 5.5}, {'connected_gene': 'KARS', 'score': 5.12}, {'connected_gene': 'TERF2IP', 'score': 0.44}, {'connected_gene': 'PIR52633', 'score': 0.44}]
chr16 GH16I075593 75593510 75595189 1.37 [{'connected_gene': 'GABARAPL2', 'score': 11.57}, {'connected_gene': 'TMEM231', 'score': 6.93}, {'connected_gene': 'ADAT1', 'score': 4.53}, {'connected_gene': 'PIR60653', 'score': 0.44}, {'connected_gene': 'ENSG00000259992', 'score': 0.39}, {'connected_gene': 'GC16P075575', 'score': 0.37}]
chr16 GH16I075564 75564659 75567832 2.38 [{'connected_gene': 'GABARAPL2', 'score': 550.77}, {'connected_gene': 'RFWD3', 'score': 37.19}, {'connected_gene': 'ADAT1', 'score': 36.88}, {'connected_gene': 'KARS', 'score': 24.21}, {'connected_gene': 'WDR59', 'score': 11.47}, {'connected_gene': 'TMEM231', 'score': 7.09}, {'connected_gene': 'TMEM170A', 'score': 4.93}, {'connected_gene': 'ENSG00000276408', 'score': 0.44}, {'connected_gene': 'ENSG00000259992', 'score': 0.26}]
chr16 GH16I075589 75589075 75592400 0.91 [{'connected_gene': 'GABARAPL2', 'score': 11.6}, {'connected_gene': 'ADAT1', 'score': 9.49}, {'connected_gene': 'TMEM231', 'score': 6.95}, {'connected_gene': 'PIR60653', 'score': 0.44}, {'connected_gene': 'ENSG00000259992', 'score': 0.37}, {'connected_gene': 'GC16P075575', 'score': 0.37}]
chr16 GH16I075432 75432506 75435001 2.11 [{'connected_gene': 'CFDP1', 'score': 578.05}, {'connected_gene': 'ENSG00000274220', 'score': 550.77}, {'connected_gene': 'ENSG00000261783', 'score': 39.33}, {'connected_gene': 'RFWD3', 'score': 25.57}, {'connected_gene': 'ADAT1', 'score': 11.91}, {'connected_gene': 'GLG1', 'score': 11.71}, {'connected_gene': 'TMEM231', 'score': 11.35}, {'connected_gene': 'ENSG00000261717', 'score': 0.29}]
chr16 GH16I075516 75516013 75518012 1.76 [{'connected_gene': 'LOC100420067', 'score': 550.77}, {'connected_gene': 'ADAT1', 'score': 52.65}, {'connected_gene': 'TMEM231', 'score': 13.73}, {'connected_gene': 'RFWD3', 'score': 13.38}, {'connected_gene': 'CHST6', 'score': 12.23}, {'connected_gene': 'GABARAPL2', 'score': 11.19}, {'connected_gene': 'KARS', 'score': 9.92}, {'connected_gene': 'CHST5', 'score': 0.37}]
chr16 GH16I075482 75482833 75487449 1.08 [{'connected_gene': 'ENSG00000261783', 'score': 27.1}, {'connected_gene': 'BCAR1', 'score': 14.61}, {'connected_gene': 'RFWD3', 'score': 12.54}, {'connected_gene': 'CHST5', 'score': 11.77}, {'connected_gene': 'TMEM231', 'score': 11.73}, {'connected_gene': 'ADAT1', 'score': 10.21}, {'connected_gene': 'TMEM170A', 'score': 6.3}, {'connected_gene': 'ENSG00000203472', 'score': 0.44}, {'connected_gene': 'CHST6', 'score': 0.39}]
chr16 GH16I075471 75471363 75473237 1.07 [{'connected_gene': 'ENSG00000261783', 'score': 30.67}, {'connected_gene': 'WDR59', 'score': 12.93}, {'connected_gene': 'CHST6', 'score': 12.39}, {'connected_gene': 'CHST5', 'score': 12.05}, {'connected_gene': 'TMEM231', 'score': 12.01}, {'connected_gene': 'ENSG00000252122', 'score': 10.97}, {'connected_gene': 'GABARAPL2', 'score': 10.8}, {'connected_gene': 'CFDP1', 'score': 10.21}, {'connected_gene': 'ENSG00000203472', 'score': 0.77}, {'connected_gene': 'TMEM170A', 'score': 0.44}]
chr16 GH16I075498 75498601 75499201 0.95 [{'connected_gene': 'ENSG00000273971', 'score': 550.77}, {'connected_gene': 'CHST5', 'score': 11.85}, {'connected_gene': 'TMEM231', 'score': 11.8}, {'connected_gene': 'GABARAPL2', 'score': 10.79}, {'connected_gene': 'ADAT1', 'score': 10.37}, {'connected_gene': 'RNU6-758P', 'score': 9.78}, {'connected_gene': 'LOC100420067', 'score': 0.37}]
chr16 GH16I075569 75569092 75572540 0.92 [{'connected_gene': 'ENSG00000276523', 'score': 550.77}, {'connected_gene': 'ADAT1', 'score': 34.81}, {'connected_gene': 'TMEM231', 'score': 7.05}, {'connected_gene': 'GABARAPL2', 'score': 0.77}, {'connected_gene': 'ENSG00000259992', 'score': 0.28}]
chr16 GH16I075543 75543964 75544674 0.38 [{'connected_gene': 'ENSG00000260092', 'score': 550.77}, {'connected_gene': 'ADAT1', 'score': 38.25}, {'connected_gene': 'PIR47522', 'score': 0.77}, {'connected_gene': 'TMEM231', 'score': 0.39}, {'connected_gene': 'ENSG00000259992', 'score': 0.21}]
chr16 GH16I075537 75537537 75538058 0.4 [{'connected_gene': 'PIR47522', 'score': 550.77}, {'connected_gene': 'ADAT1', 'score': 33.41}, {'connected_gene': 'CHST6', 'score': 12.05}, {'connected_gene': 'GABARAPL2', 'score': 12.0}, {'connected_gene': 'TMEM231', 'score': 4.76}, {'connected_gene': 'CHST5', 'score': 0.77}, {'connected_gene': 'ENSG00000260092', 'score': 0.44}]
chr16 GH16I075540 75540460 75542227 0.51 [{'connected_gene': 'PIR47522', 'score': 550.77}, {'connected_gene': 'ADAT1', 'score': 40.29}, {'connected_gene': 'CHST6', 'score': 12.03}, {'connected_gene': 'GABARAPL2', 'score': 12.0}, {'connected_gene': 'CHST5', 'score': 5.76}, {'connected_gene': 'TMEM231', 'score': 4.79}, {'connected_gene': 'ENSG00000260092', 'score': 0.77}, {'connected_gene': 'ENSG00000259992', 'score': 0.2}]
chr16 GH16I075538 75538801 75539400 0.4 [{'connected_gene': 'PIR47522', 'score': 550.77}, {'connected_gene': 'ADAT1', 'score': 39.65}, {'connected_gene': 'CHST6', 'score': 12.05}, {'connected_gene': 'GABARAPL2', 'score': 12.0}, {'connected_gene': 'CHST5', 'score': 6.76}, {'connected_gene': 'ENSG00000260092', 'score': 0.44}, {'connected_gene': 'TMEM231', 'score': 0.37}]

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