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
ENST00000514135 [[87485449, 87486078], [87492192, 87492305], [87493485, 87493582], [87494792, 87494967], [87498778, 87498892], [87501630, 87501771], [87502255, 87502316], [87502845, 87502997], [87516379, 87516536], [87521585, 87521683], [87524261, 87524345], [87536629, 87536733], [87564537, 87564647]] [[87485868, 87486078], [87492192, 87492305], [87493485, 87493582], [87494792, 87494967], [87498778, 87498892], [87501630, 87501771], [87502255, 87502316], [87502845, 87502997], [87516379, 87516536], [87521585, 87521683], [87524261, 87524345], [87536629, 87536733], [87564537, 87564540]]
ENST00000511087 [[87490863, 87492305], [87493485, 87493582], [87494792, 87494967], [87498778, 87498892], [87501617, 87501771], [87502255, 87502316], [87502845, 87502997], [87516379, 87516536], [87517490, 87517577], [87521585, 87521683], [87524261, 87524345], [87536629, 87536733], [87564537, 87564616]] [[87517500, 87517577], [87521585, 87521683], [87524261, 87524345], [87536629, 87536733], [87564537, 87564540]]
ENST00000510089 [[87490985, 87492305], [87493485, 87498892], [87501570, 87501771], [87502255, 87502316], [87502845, 87502997], [87516379, 87516536], [87521585, 87521683], [87524261, 87524345], [87564537, 87564665]] [[87501626, 87501771], [87502255, 87502316], [87502845, 87502997], [87516379, 87516444]]
ENST00000296595 [[87491022, 87492305], [87493485, 87493582], [87494792, 87494967], [87498778, 87498892], [87501630, 87501771], [87502255, 87502316], [87502845, 87502997], [87516379, 87516536], [87521585, 87521683], [87524261, 87524345], [87536629, 87536733], [87564537, 87564665]] [[87492027, 87492305], [87493485, 87493582], [87494792, 87494967], [87498778, 87498892], [87501630, 87501771], [87502255, 87502316], [87502845, 87502997], [87516379, 87516536], [87521585, 87521683], [87524261, 87524345], [87536629, 87536733], [87564537, 87564540]]
ENST00000506536 [[87491023, 87492305], [87494792, 87494967], [87498778, 87498892], [87501630, 87501771], [87502255, 87502316], [87502845, 87502959], [87516379, 87516536], [87521585, 87521683], [87524261, 87524345], [87564537, 87564639]] [[87492194, 87492305], [87494792, 87494967], [87498778, 87498892], [87501630, 87501771], [87502255, 87502316], [87502845, 87502897]]
ENST00000512429 [[87491933, 87492305], [87493485, 87493582], [87494792, 87494967], [87498778, 87498892], [87501630, 87501771], [87502255, 87502316], [87502845, 87502997], [87516379, 87516536], [87521585, 87521683], [87524261, 87524345], [87536629, 87536733], [87555048, 87555180], [87564537, 87564646]] [[87492027, 87492305], [87493485, 87493582], [87494792, 87494967], [87498778, 87498892], [87501630, 87501771], [87502255, 87502316], [87502845, 87502997], [87516379, 87516536], [87521585, 87521683], [87524261, 87524345], [87536629, 87536703]]
ENST00000507872 [[87498500, 87498892], [87501630, 87501771], [87502255, 87502316], [87502845, 87502959], [87516379, 87516536], [87521585, 87521683], [87524261, 87524345], [87536629, 87536733], [87564537, 87564636]] [[87502943, 87502959], [87516379, 87516536], [87521585, 87521683], [87524261, 87524345], [87536629, 87536733], [87564537, 87564540]]
ENST00000509387 [[87498759, 87498892], [87501630, 87501771], [87502255, 87502316], [87502845, 87502997], [87516379, 87516536], [87521585, 87521683], [87524261, 87524345], [87564537, 87564674]] [[87498774, 87498892], [87501630, 87501771], [87502255, 87502316], [87502845, 87502997], [87516379, 87516444]]
ENST00000503755 [[87502236, 87502316], [87502845, 87502997], [87516379, 87516536], [87524261, 87524345], [87564537, 87564646]] None
ENST00000513487 [[87502851, 87502997], [87516379, 87516536], [87521585, 87521683], [87524261, 87524345], [87564604, 87564665]] None
ENST00000515477 [[87516431, 87516536], [87517117, 87517288], [87521585, 87521683], [87524261, 87524345], [87536629, 87536733], [87564537, 87564664]] None
ENST00000503194 [[87524275, 87524345], [87536629, 87536733], [87564604, 87564887], [87565180, 87565293]] None
ENST00000511218 [[87491644, 87492305], [87493485, 87493582], [87494792, 87494886], [87498778, 87498892], [87501630, 87501771], [87502255, 87502316], [87502845, 87502959], [87516379, 87516448]] [[87492027, 87492305], [87493485, 87493582], [87494792, 87494886], [87498778, 87498892], [87501630, 87501771], [87502255, 87502316], [87502845, 87502897]]
ENST00000515293 [[87492166, 87492305], [87493485, 87494268]] None
ENST00000503943 [[87524257, 87524345], [87536629, 87536733], [87546467, 87546854]] None
NM_001289007 [[87485449, 87486078], [87492192, 87492305], [87493485, 87493582], [87494792, 87494967], [87498778, 87498892], [87501630, 87501771], [87502255, 87502316], [87502845, 87502997], [87516379, 87516536], [87521585, 87521683], [87524261, 87524345], [87536629, 87536733], [87564537, 87564696]] [[87485868, 87486078], [87492192, 87492305], [87493485, 87493582], [87494792, 87494967], [87498778, 87498892], [87501630, 87501771], [87502255, 87502316], [87502845, 87502997], [87516379, 87516536], [87521585, 87521683], [87524261, 87524345], [87536629, 87536733], [87564537, 87564540]]
NM_001289008 [[87491022, 87492305], [87493485, 87493582], [87494792, 87494967], [87498778, 87498892], [87501630, 87501771], [87502255, 87502316], [87502845, 87502997], [87516379, 87516536], [87521585, 87521683], [87524261, 87524345], [87536629, 87536733], [87555048, 87555180], [87564537, 87564696]] [[87492027, 87492305], [87493485, 87493582], [87494792, 87494967], [87498778, 87498892], [87501630, 87501771], [87502255, 87502316], [87502845, 87502997], [87516379, 87516536], [87521585, 87521683], [87524261, 87524345], [87536629, 87536703]]
NR_110266 [[87491022, 87492305], [87493485, 87493582], [87494792, 87494967], [87498778, 87498892], [87501617, 87501771], [87502255, 87502316], [87502845, 87502997], [87516379, 87516536], [87517490, 87517577], [87521585, 87521683], [87524261, 87524345], [87536629, 87536733], [87564537, 87564696]] None
NM_153354 [[87491022, 87492305], [87493485, 87493582], [87494792, 87494967], [87498778, 87498892], [87501630, 87501771], [87502255, 87502316], [87502845, 87502997], [87516379, 87516536], [87521585, 87521683], [87524261, 87524345], [87536629, 87536733], [87564537, 87564696]] [[87492027, 87492305], [87493485, 87493582], [87494792, 87494967], [87498778, 87498892], [87501630, 87501771], [87502255, 87502316], [87502845, 87502997], [87516379, 87516536], [87521585, 87521683], [87524261, 87524345], [87536629, 87536733], [87564537, 87564540]]
Promoter
Chrom Start End Description
chr5 87516538 87516544 CAGE_peak_2_at_TMEM161B_5end
chr5 87564620 87564687 CAGE_peak_1_at_TMEM161B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I088822 88822470 88835034 2.18 [{'connected_gene': 'MEF2C', 'score': 552.33}, {'connected_gene': 'TMEM161B', 'score': 17.86}, {'connected_gene': 'MEF2C-AS1', 'score': 10.8}, {'connected_gene': 'ENSG00000250377', 'score': 0.12}]
chr5 GH05I088140 88140524 88142200 1.11 [{'connected_gene': 'TMEM161B', 'score': 12.76}, {'connected_gene': 'LINC00461', 'score': 11.24}, {'connected_gene': 'MEF2C-AS2', 'score': 11.24}, {'connected_gene': 'MIR9-2', 'score': 10.3}, {'connected_gene': 'ENSG00000250555', 'score': 10.23}, {'connected_gene': 'ENSG00000250377', 'score': 10.23}, {'connected_gene': 'LOC105379070', 'score': 0.26}, {'connected_gene': 'GC05P088219', 'score': 0.18}]
chr5 GH05I088657 88657788 88658917 0.49 [{'connected_gene': 'TMEM161B', 'score': 13.35}, {'connected_gene': 'LINC00461', 'score': 11.68}, {'connected_gene': 'ENSG00000250555', 'score': 11.22}, {'connected_gene': 'ENSG00000250377', 'score': 11.2}, {'connected_gene': 'GC05P088664', 'score': 0.44}, {'connected_gene': 'ENSG00000250705', 'score': 0.22}]
chr5 GH05I088679 88679245 88681097 1.28 [{'connected_gene': 'TMEM161B', 'score': 17.88}, {'connected_gene': 'MEF2C-AS2', 'score': 0.77}, {'connected_gene': 'LINC00461', 'score': 0.39}]
chr5 GH05I088807 88807347 88807995 0.54 [{'connected_gene': 'TMEM161B', 'score': 17.86}, {'connected_gene': 'MEF2C-AS1', 'score': 0.18}, {'connected_gene': 'MEF2C', 'score': 0.15}, {'connected_gene': 'ENSG00000250377', 'score': 0.14}]
chr5 GH05I088671 88671431 88678433 1.63 [{'connected_gene': 'MEF2C-AS2', 'score': 550.77}, {'connected_gene': 'TMEM161B', 'score': 28.66}, {'connected_gene': 'MEF2C', 'score': 6.14}, {'connected_gene': 'MEF2C-AS1', 'score': 4.18}, {'connected_gene': 'MIR9-2', 'score': 0.44}, {'connected_gene': 'LINC00461', 'score': 0.37}]
chr5 GH05I088194 88194974 88198019 0.2 [{'connected_gene': 'TMEM161B-AS1', 'score': 8.81}, {'connected_gene': 'ENSG00000271904', 'score': 7.38}, {'connected_gene': 'GC05P088219', 'score': 0.34}, {'connected_gene': 'TMEM161B', 'score': 0.19}, {'connected_gene': 'LOC105379070', 'score': 0.15}]
chr5 GH05I088247 88247408 88248054 0.38 [{'connected_gene': 'TMEM161B-AS1', 'score': 10.57}, {'connected_gene': 'GC05M088257', 'score': 0.39}, {'connected_gene': 'TMEM161B', 'score': 0.34}, {'connected_gene': 'GC05P088219', 'score': 0.31}]
chr5 GH05I088267 88267396 88270451 2.03 [{'connected_gene': 'TMEM161B-AS1', 'score': 560.85}, {'connected_gene': 'TMEM161B', 'score': 550.77}]
chr5 GH05I088256 88256354 88257700 0.85 [{'connected_gene': 'TMEM161B-AS1', 'score': 10.47}, {'connected_gene': 'GC05M088257', 'score': 0.77}, {'connected_gene': 'TMEM161B', 'score': 0.39}, {'connected_gene': 'GC05P088219', 'score': 0.28}]
chr5 GH05I088244 88244411 88245452 0.79 [{'connected_gene': 'TMEM161B-AS1', 'score': 10.1}, {'connected_gene': 'GC05M088257', 'score': 0.39}, {'connected_gene': 'TMEM161B', 'score': 0.34}, {'connected_gene': 'GC05P088219', 'score': 0.31}]
chr5 GH05I088251 88251184 88251313 0.78 [{'connected_gene': 'TMEM161B-AS1', 'score': 9.71}, {'connected_gene': 'GC05M088257', 'score': 0.44}, {'connected_gene': 'TMEM161B', 'score': 0.37}, {'connected_gene': 'GC05P088219', 'score': 0.29}]
chr5 GH05I088191 88190564 88190573 0.46 [{'connected_gene': 'GC05P088219', 'score': 0.31}, {'connected_gene': 'TMEM161B', 'score': 0.18}, {'connected_gene': 'LOC105379070', 'score': 0.16}]
chr5 GH05I088203 88203816 88205284 0.43 [{'connected_gene': 'ENSG00000271904', 'score': 7.39}, {'connected_gene': 'GC05P088219', 'score': 0.39}, {'connected_gene': 'TMEM161B', 'score': 0.21}, {'connected_gene': 'LOC105379070', 'score': 0.15}]
chr5 GH05I088190 88190264 88190413 0.64 [{'connected_gene': 'GC05P088219', 'score': 0.31}, {'connected_gene': 'TMEM161B', 'score': 0.18}, {'connected_gene': 'LOC105379070', 'score': 0.16}]
chr5 GH05I088248 88248914 88249465 0.31 [{'connected_gene': 'GC05M088257', 'score': 0.39}, {'connected_gene': 'TMEM161B', 'score': 0.34}, {'connected_gene': 'GC05P088219', 'score': 0.29}]
chr5 GH05I088234 88234925 88235300 0.22 [{'connected_gene': 'GC05P088219', 'score': 0.37}, {'connected_gene': 'GC05M088257', 'score': 0.34}, {'connected_gene': 'TMEM161B', 'score': 0.29}]