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
ENST00000382110 [[3383445, 3383610], [3391390, 3392441], [3405547, 3405664], [3425651, 3425765], [3428295, 3428434], [3447549, 3447662], [3461391, 3461464], [3464033, 3464107], [3469367, 3469466], [3481465, 3481566], [3482616, 3482704], [3482989, 3483338]] [[3391394, 3392441], [3405547, 3405664], [3425651, 3425765], [3428295, 3428434], [3447549, 3447662], [3461391, 3461464], [3464033, 3464107], [3469367, 3469466], [3481465, 3481566], [3482616, 3482704], [3482989, 3483232]]
ENST00000324266 [[3383456, 3383647], [3391390, 3392441], [3405547, 3405664], [3425651, 3425765], [3428295, 3428434], [3447549, 3447662], [3461391, 3461464], [3464033, 3464107], [3469367, 3469466], [3481465, 3481566], [3482616, 3482704], [3482989, 3483337]] [[3391394, 3392441], [3405547, 3405664], [3425651, 3425765], [3428295, 3428434], [3447549, 3447662], [3461391, 3461464], [3464033, 3464107], [3469367, 3469466], [3481465, 3481566], [3482616, 3482704], [3482989, 3483232]]
ENST00000411973 [[3391897, 3392441], [3405547, 3405664], [3425470, 3425557], [3425651, 3425741]] [[3391897, 3392441], [3405547, 3405664], [3425470, 3425476]]
ENST00000457845 [[3393456, 3393550], [3405547, 3405664], [3425470, 3425557], [3425651, 3425765], [3428295, 3428434], [3447549, 3447577]] [[3393456, 3393550], [3405547, 3405664], [3425470, 3425476]]
ENST00000441983 [[3393464, 3393550], [3405547, 3405664], [3425651, 3425765], [3428295, 3428434], [3447549, 3447662], [3461391, 3461464], [3464033, 3464074]] [[3393464, 3393550], [3405547, 3405664], [3425651, 3425765], [3428295, 3428434], [3447549, 3447662], [3461391, 3461464], [3464033, 3464074]]
ENST00000482645 [[3383490, 3383647], [3391390, 3392771]] None
ENST00000417243 [[3425653, 3425765], [3428295, 3428434], [3447549, 3447662], [3461391, 3461464], [3464033, 3464107], [3469367, 3469466], [3482616, 3482704], [3482989, 3483338]] [[3425653, 3425765], [3428295, 3428434], [3447549, 3447662], [3461391, 3461464], [3464033, 3464107], [3469367, 3469466], [3482616, 3482643]]
ENST00000469147 [[3428368, 3428434], [3447549, 3447662], [3461391, 3461464], [3464033, 3464107], [3469367, 3469466], [3471200, 3471777]] None
ENST00000441099 [[3428389, 3428434], [3447549, 3447662], [3460920, 3461000], [3461391, 3461464], [3461565, 3461952]] [[3428389, 3428434], [3447549, 3447662], [3460920, 3460953]]
ENST00000433382 [[3447496, 3447662], [3461391, 3461464], [3464033, 3464107], [3469367, 3469466], [3470024, 3470164], [3482616, 3482642]] None
ENST00000462983 [[3447562, 3447662], [3461391, 3461464], [3464033, 3464107], [3464417, 3464713]] None
ENST00000479897 [[3447566, 3447662], [3461391, 3461464], [3464033, 3464107], [3469367, 3469578]] None
ENST00000415624 [[3447638, 3447662], [3461391, 3461464], [3464033, 3464107], [3469367, 3469466], [3481462, 3481566], [3482616, 3482704], [3482989, 3483342]] [[3447638, 3447662], [3461391, 3461464], [3464033, 3464107], [3469367, 3469466], [3481462, 3481566], [3482616, 3482704], [3482989, 3483232]]
ENST00000479955 [[3452966, 3453248], [3461391, 3461464], [3464033, 3464098]] None
ENST00000497597 [[3458382, 3461000], [3461391, 3461464], [3464033, 3464107], [3469367, 3469466], [3481465, 3481566], [3482616, 3482704], [3482989, 3483337]] None
ENST00000473348 [[3462083, 3462232], [3464033, 3464107], [3469367, 3469466], [3481465, 3481566], [3482616, 3482684]] None
ENST00000461577 [[3463701, 3464107], [3469367, 3469466], [3481465, 3481566], [3482616, 3482687]] None
ENST00000489032 [[3464052, 3464107], [3469367, 3469466], [3481465, 3481872]] None
ENST00000437733 [[3464071, 3464107], [3466628, 3466842], [3469367, 3469466], [3481465, 3481566], [3482616, 3482684]] [[3464071, 3464107], [3466628, 3466760]]
ENST00000416918 [[3469443, 3469479], [3482616, 3482704], [3482989, 3483338]] [[3469443, 3469479], [3482616, 3482704], [3482989, 3483232]]
ENST00000469400 [[3476191, 3476373], [3481465, 3481566], [3482616, 3482704], [3482989, 3483338]] None
ENST00000452495 [[3481485, 3481566], [3482616, 3482704], [3488490, 3488865]] [[3481485, 3481566], [3482616, 3482704], [3488490, 3488649]]
ENST00000493792 [[3482484, 3482704], [3482989, 3483336]] None
NM_001321102 [[3383445, 3383610], [3391390, 3392441], [3405547, 3405664], [3425651, 3425765], [3428295, 3428434], [3447549, 3447662], [3461391, 3461464], [3464033, 3464107], [3469367, 3469466], [3481465, 3481566], [3482616, 3482704], [3482989, 3483342]] [[3391394, 3392441], [3405547, 3405664], [3425651, 3425765], [3428295, 3428434], [3447549, 3447662], [3461391, 3461464], [3464033, 3464107], [3469367, 3469466], [3481465, 3481566], [3482616, 3482704], [3482989, 3483232]]
NM_016030 [[3383445, 3383647], [3391390, 3392441], [3405547, 3405664], [3425651, 3425765], [3428295, 3428434], [3447549, 3447662], [3461391, 3461464], [3464033, 3464107], [3469367, 3469466], [3481465, 3481566], [3482616, 3482704], [3482989, 3483342]] [[3391394, 3392441], [3405547, 3405664], [3425651, 3425765], [3428295, 3428434], [3447549, 3447662], [3461391, 3461464], [3464033, 3464107], [3469367, 3469466], [3481465, 3481566], [3482616, 3482704], [3482989, 3483232]]
Promoter
Chrom Start End Description
chr2 3383439 3383504 CAGE_peak_1_at_TRAPPC12_5end
chr2 3383515 3383529 CAGE_peak_2_at_TRAPPC12_5end
chr2 3383544 3383565 CAGE_peak_3_at_TRAPPC12_5end
chr2 3383573 3383585 CAGE_peak_4_at_TRAPPC12_5end
chr2 3391595 3391620 CAGE_peak_5_at_TRAPPC12_5end
chr2 3391809 3391818 CAGE_peak_14_at_TRAPPC12_5end
chr2 3391846 3391853 CAGE_peak_20_at_TRAPPC12_5end
chr2 3391873 3391896 CAGE_peak_9_at_TRAPPC12_5end
chr2 3391899 3391913 CAGE_peak_10_at_TRAPPC12_5end
chr2 3391925 3391928 CAGE_peak_21_at_TRAPPC12_5end
chr2 3393453 3393467 CAGE_peak_16_at_TRAPPC12_5end
chr2 3452535 3452544 CAGE_peak_17_at_TRAPPC12_5end
chr2 3463652 3463685 CAGE_peak_8_at_TRAPPC12_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I003574 3574549 3578154 2.36 [{'connected_gene': 'RPS7', 'score': 611.05}, {'connected_gene': 'TRAPPC12', 'score': 53.35}, {'connected_gene': 'RNASEH1', 'score': 29.22}, {'connected_gene': 'COLEC11', 'score': 28.6}, {'connected_gene': 'RNASEH1-AS1', 'score': 11.9}]
chr2 GH02I003461 3461402 3462959 1.14 [{'connected_gene': 'ADI1', 'score': 10.89}, {'connected_gene': 'ENSG00000235078', 'score': 10.89}, {'connected_gene': 'COLEC11', 'score': 10.47}, {'connected_gene': 'ENSG00000237370', 'score': 10.47}, {'connected_gene': 'RPS7', 'score': 10.15}, {'connected_gene': 'TRAPPC12-AS1', 'score': 5.56}, {'connected_gene': 'TRAPPC12', 'score': 5.21}, {'connected_gene': 'GC02P003451', 'score': 0.39}, {'connected_gene': 'PIR36101', 'score': 0.39}]
chr2 GH02I003453 3453887 3454908 0.31 [{'connected_gene': 'ADI1', 'score': 16.43}, {'connected_gene': 'ENSG00000235078', 'score': 10.92}, {'connected_gene': 'RPS7', 'score': 10.43}, {'connected_gene': 'TRAPPC12', 'score': 9.97}, {'connected_gene': 'GC02P003453', 'score': 0.77}, {'connected_gene': 'PIR36101', 'score': 0.77}, {'connected_gene': 'GC02P003451', 'score': 0.77}, {'connected_gene': 'TRAPPC12-AS1', 'score': 0.31}]
chr2 GH02I003376 3376722 3381296 2.31 [{'connected_gene': 'TRAPPC12', 'score': 571.53}, {'connected_gene': 'EIPR1', 'score': 550.77}, {'connected_gene': 'TRAPPC12-AS1', 'score': 8.12}]
chr2 GH02I003368 3368043 3369730 1.04 [{'connected_gene': 'TRAPPC12', 'score': 14.51}, {'connected_gene': 'EIPR1', 'score': 0.44}, {'connected_gene': 'GC02M003336', 'score': 0.34}]
chr2 GH02I003362 3362801 3363000 0.38 [{'connected_gene': 'TRAPPC12', 'score': 9.55}, {'connected_gene': 'EIPR1', 'score': 0.39}, {'connected_gene': 'GC02M003336', 'score': 0.37}]
chr2 GH02I003356 3356601 3357801 0.38 [{'connected_gene': 'TRAPPC12', 'score': 9.46}, {'connected_gene': 'GC02M003336', 'score': 0.39}, {'connected_gene': 'EIPR1', 'score': 0.34}]
chr2 GH02I003386 3386274 3387145 0.43 [{'connected_gene': 'TRAPPC12', 'score': 11.94}, {'connected_gene': 'RPS7', 'score': 10.71}, {'connected_gene': 'PIR54632', 'score': 0.28}]
chr2 GH02I003399 3399340 3400961 0.31 [{'connected_gene': 'TRAPPC12', 'score': 12.35}, {'connected_gene': 'ENSG00000235078', 'score': 10.51}, {'connected_gene': 'ADI1', 'score': 10.51}, {'connected_gene': 'RPS7', 'score': 10.19}, {'connected_gene': 'PIR54632', 'score': 0.34}]
chr2 GH02I003334 3334387 3336132 0.31 [{'connected_gene': 'TRAPPC12', 'score': 10.29}, {'connected_gene': 'GC02M003336', 'score': 0.39}, {'connected_gene': 'EIPR1-IT1', 'score': 0.29}, {'connected_gene': 'EIPR1', 'score': 0.26}]
chr2 GH02I003447 3447766 3449906 0.66 [{'connected_gene': 'TRAPPC12', 'score': 10.98}, {'connected_gene': 'TRAPPC12-AS1', 'score': 5.42}, {'connected_gene': 'GC02P003453', 'score': 0.77}, {'connected_gene': 'PIR54632', 'score': 0.34}]
chr2 GH02I003475 3475222 3477479 0.74 [{'connected_gene': 'TRAPPC12-AS1', 'score': 56.49}, {'connected_gene': 'ADI1', 'score': 11.33}, {'connected_gene': 'ENSG00000235078', 'score': 11.33}, {'connected_gene': 'ENSG00000255767', 'score': 11.11}, {'connected_gene': 'RPS7', 'score': 10.47}, {'connected_gene': 'GC02P003451', 'score': 0.34}, {'connected_gene': 'PIR36101', 'score': 0.34}, {'connected_gene': 'TRAPPC12', 'score': 0.15}]
chr2 GH02I003480 3480362 3481334 0.76 [{'connected_gene': 'TRAPPC12-AS1', 'score': 606.24}, {'connected_gene': 'ADI1', 'score': 11.35}, {'connected_gene': 'ENSG00000235078', 'score': 11.35}, {'connected_gene': 'ENSG00000255767', 'score': 11.12}, {'connected_gene': 'RPS7', 'score': 10.48}, {'connected_gene': 'GC02P003451', 'score': 0.31}, {'connected_gene': 'PIR36101', 'score': 0.31}, {'connected_gene': 'TRAPPC12', 'score': 0.15}]
chr2 GH02I003481 3480066 3480315 0.34 [{'connected_gene': 'TRAPPC12-AS1', 'score': 20.2}, {'connected_gene': 'ADI1', 'score': 11.35}, {'connected_gene': 'ENSG00000235078', 'score': 11.35}, {'connected_gene': 'ENSG00000255767', 'score': 11.12}, {'connected_gene': 'RPS7', 'score': 10.47}, {'connected_gene': 'GC02P003451', 'score': 0.31}, {'connected_gene': 'PIR36101', 'score': 0.31}, {'connected_gene': 'TRAPPC12', 'score': 0.15}]
chr2 GH02I003469 3469249 3472226 0.86 [{'connected_gene': 'TRAPPC12-AS1', 'score': 58.84}, {'connected_gene': 'TRAPPC12', 'score': 9.32}, {'connected_gene': 'PIR36101', 'score': 0.37}, {'connected_gene': 'GC02P003451', 'score': 0.37}]
chr2 GH02I003464 3464638 3467209 1.3 [{'connected_gene': 'TRAPPC12-AS1', 'score': 44.14}, {'connected_gene': 'TRAPPC12', 'score': 9.35}, {'connected_gene': 'PIR36101', 'score': 0.39}, {'connected_gene': 'GC02P003451', 'score': 0.39}]
chr2 GH02I003488 3488757 3491100 0.31 [{'connected_gene': 'TRAPPC12-AS1', 'score': 43.36}, {'connected_gene': 'TRAPPC12', 'score': 8.41}, {'connected_gene': 'ENSG00000271868', 'score': 0.44}]
chr2 GH02I003482 3482917 3483977 1.03 [{'connected_gene': 'TRAPPC12-AS1', 'score': 581.5}, {'connected_gene': 'TRAPPC12', 'score': 22.58}, {'connected_gene': 'ENSG00000271868', 'score': 0.39}]
chr2 GH02I003562 3562833 3565260 0.93 [{'connected_gene': 'RNASEH1-AS1', 'score': 58.8}, {'connected_gene': 'TRAPPC12', 'score': 5.51}, {'connected_gene': 'RPS7', 'score': 5.34}, {'connected_gene': 'GC02P003569', 'score': 0.44}, {'connected_gene': 'RNASEH1', 'score': 0.44}]
chr2 GH02I003452 3452707 3453838 0.2 [{'connected_gene': 'PIR36101', 'score': 550.77}, {'connected_gene': 'GC02P003451', 'score': 550.77}, {'connected_gene': 'ENSG00000235078', 'score': 10.92}, {'connected_gene': 'ADI1', 'score': 10.92}, {'connected_gene': 'RPS7', 'score': 10.43}, {'connected_gene': 'TRAPPC12', 'score': 5.2}, {'connected_gene': 'GC02P003453', 'score': 0.77}, {'connected_gene': 'TRAPPC12-AS1', 'score': 0.31}]
chr2 GH02I003423 3423970 3424159 0.84 [{'connected_gene': 'PIR54632', 'score': 550.77}, {'connected_gene': 'TRAPPC12', 'score': 10.12}]
chr2 GH02I003422 3422914 3423297 0.31 [{'connected_gene': 'PIR54632', 'score': 550.77}, {'connected_gene': 'TRAPPC12', 'score': 0.26}]

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