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
ENST00000396673 [[8413417, 8414257], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8496613], [8554894, 8555043], [8615290, 8615503]] [[8414056, 8414257], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8496452]]
ENST00000396672 [[8413417, 8414257], [8435041, 8435239], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8496613], [8615290, 8615503]] [[8414056, 8414257], [8435041, 8435239], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8496452]]
ENST00000315204 [[8413417, 8414257], [8435041, 8435239], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8496613], [8554894, 8555043], [8615290, 8615503]] [[8414056, 8414257], [8435041, 8435239], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8496452]]
ENST00000358872 [[8413417, 8414257], [8435041, 8435239], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8615629, 8615775]] [[8414056, 8414257], [8435041, 8435239], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479023]]
ENST00000534493 [[8413733, 8414257], [8435041, 8435239], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8496363], [8588797, 8588840], [8615629, 8615702]] [[8414056, 8414257], [8435041, 8435239], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8496329]]
ENST00000526517 [[8455406, 8455790], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8615629, 8615806]] None
ENST00000418597 [[8476306, 8476379], [8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8496363], [8615290, 8615555]] [[8476306, 8476379], [8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8496329]]
ENST00000422559 [[8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8496363], [8502080, 8502161], [8615629, 8615707]] [[8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8496329]]
ENST00000532336 [[8496194, 8496613], [8602360, 8602507], [8615290, 8615532]] None
ENST00000431279 [[8496261, 8496613], [8498233, 8498298], [8498796, 8498830], [8502080, 8502161], [8615290, 8615516]] [[8496261, 8496452]]
ENST00000454443 [[8496339, 8496613], [8502080, 8502161], [8615629, 8615836]] [[8496339, 8496452]]
ENST00000526360 [[8496365, 8496613], [8502029, 8502161], [8587256, 8587458]] [[8496365, 8496452]]
ENST00000473980 [[8413417, 8414257], [8435041, 8435239], [8457040, 8457126], [8457573, 8457686], [8474368, 8474453]] None
ENST00000486305 [[8413417, 8414257], [8435041, 8435239], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479026], [8483351, 8483456], [8486255, 8489201]] None
ENST00000447869 [[8413417, 8414257], [8435041, 8435239], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8497371]] [[8414056, 8414257], [8435041, 8435239], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8496452]]
ENST00000444064 [[8413425, 8414257], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476341]] [[8414056, 8414257], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476341]]
ENST00000524760 [[8462272, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479026], [8483351, 8483456], [8494709, 8494823], [8496227, 8496302]] [[8462272, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479026], [8483351, 8483456], [8494709, 8494823], [8496227, 8496302]]
ENST00000457885 [[8483395, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8496613], [8498796, 8498830]] [[8483395, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8496452]]
NM_030906 [[8413412, 8414257], [8435041, 8435239], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8496613], [8554894, 8555043], [8615290, 8615555]] [[8414056, 8414257], [8435041, 8435239], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8496452]]
NM_001289061 [[8413412, 8414257], [8435041, 8435239], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8496613], [8615290, 8615555]] [[8414056, 8414257], [8435041, 8435239], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8496452]]
NM_001289058 [[8413412, 8414257], [8435041, 8435239], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8496363], [8588797, 8588840], [8615629, 8615836]] [[8414056, 8414257], [8435041, 8435239], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8494709, 8494823], [8496227, 8496329]]
NM_001289059 [[8413412, 8414257], [8435041, 8435239], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479026], [8483351, 8483456], [8486255, 8486369], [8615629, 8615836]] [[8414056, 8414257], [8435041, 8435239], [8457040, 8457126], [8457573, 8457686], [8462224, 8462300], [8474368, 8474453], [8476290, 8476379], [8478887, 8479023]]
Promoter
Chrom Start End Description
chr11 8615488 8615505 CAGE_peak_5_at_STK33_5end
chr11 8615507 8615528 CAGE_peak_4_at_STK33_5end
chr11 8615687 8615711 CAGE_peak_2_at_STK33_5end
chr11 8615720 8615813 CAGE_peak_1_at_STK33_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I008701 8701988 8702091 0.56 [{'connected_gene': 'TRIM66', 'score': 23.83}, {'connected_gene': 'STK33', 'score': 1.32}, {'connected_gene': 'ENSG00000254665', 'score': 0.44}, {'connected_gene': 'RPL27A', 'score': 0.37}, {'connected_gene': 'PIR56836', 'score': 0.25}, {'connected_gene': 'ST5', 'score': 0.08}]
chr11 GH11I008697 8697741 8701844 1.28 [{'connected_gene': 'TRIM66', 'score': 45.19}, {'connected_gene': 'STK33', 'score': 12.17}, {'connected_gene': 'TMEM9B', 'score': 5.39}, {'connected_gene': 'ENSG00000254665', 'score': 0.44}, {'connected_gene': 'RPL27A', 'score': 0.37}, {'connected_gene': 'PIR56836', 'score': 0.25}, {'connected_gene': 'ST5', 'score': 0.08}]
chr11 GH11I008651 8651873 8652922 0.38 [{'connected_gene': 'TRIM66', 'score': 14.05}, {'connected_gene': 'ENSG00000254900', 'score': 11.48}, {'connected_gene': 'SNORA3A', 'score': 11.23}, {'connected_gene': 'RPL27A', 'score': 11.23}, {'connected_gene': 'SNORA3B', 'score': 10.42}, {'connected_gene': 'ENSG00000252778', 'score': 9.5}, {'connected_gene': 'STK33', 'score': 6.34}, {'connected_gene': 'GC11M008675', 'score': 0.34}, {'connected_gene': 'GC11M008618', 'score': 0.29}, {'connected_gene': 'PIR37396', 'score': 0.29}]
chr11 GH11I007602 7602434 7609779 1.74 [{'connected_gene': 'PPFIBP2', 'score': 550.16}, {'connected_gene': 'STK33', 'score': 5.58}, {'connected_gene': 'LOC105376535', 'score': 0.44}, {'connected_gene': 'GC11P007617', 'score': 0.39}]
chr11 GH11I009488 9488894 9490465 0.51 [{'connected_gene': 'ZNF143', 'score': 15.76}, {'connected_gene': 'WEE1', 'score': 10.43}, {'connected_gene': 'ENSG00000238387', 'score': 10.42}, {'connected_gene': 'STK33', 'score': 4.56}, {'connected_gene': 'LOC644656', 'score': 0.31}, {'connected_gene': 'GC11P009430', 'score': 0.22}, {'connected_gene': 'PIR40365', 'score': 0.2}]
chr11 GH11I008681 8681527 8690183 2.52 [{'connected_gene': 'SNORA3B', 'score': 618.74}, {'connected_gene': 'RPL27A', 'score': 583.52}, {'connected_gene': 'PIR32700', 'score': 550.77}, {'connected_gene': 'SNORA3A', 'score': 550.77}, {'connected_gene': 'GC11P008729', 'score': 550.77}, {'connected_gene': 'PIR61800', 'score': 550.77}, {'connected_gene': 'GC11P008726', 'score': 550.77}, {'connected_gene': 'GC11P008723', 'score': 550.77}, {'connected_gene': 'GC11P008725', 'score': 550.77}, {'connected_gene': 'GC11P008722', 'score': 550.77}, {'connected_gene': 'GC11P008728', 'score': 550.77}, {'connected_gene': 'TRIM66', 'score': 59.07}, {'connected_gene': 'EIF3F', 'score': 54.62}, {'connected_gene': 'ZNF143', 'score': 36.98}, {'connected_gene': 'RPL21P97', 'score': 33.5}, {'connected_gene': 'STK33', 'score': 12.78}, {'connected_gene': 'WEE1', 'score': 10.09}, {'connected_gene': 'RPL23AP65', 'score': 9.98}, {'connected_gene': 'ENSG00000254665', 'score': 0.44}]
chr11 GH11I008603 8603838 8605365 1.01 [{'connected_gene': 'STK33', 'score': 17.55}, {'connected_gene': 'TRIM66', 'score': 10.63}, {'connected_gene': 'SNORA3A', 'score': 10.53}, {'connected_gene': 'RPL27A', 'score': 10.53}, {'connected_gene': 'ENSG00000254665', 'score': 9.8}, {'connected_gene': 'TMEM9B-AS1', 'score': 5.28}, {'connected_gene': 'PIR41868', 'score': 0.44}]
chr11 GH11I008382 8382368 8383208 0.43 [{'connected_gene': 'STK33', 'score': 16.87}, {'connected_gene': 'TRIM66', 'score': 10.67}, {'connected_gene': 'TMEM9B-AS1', 'score': 5.18}, {'connected_gene': 'GC11P008380', 'score': 0.77}, {'connected_gene': 'PIR32026', 'score': 0.44}, {'connected_gene': 'GC11M008392', 'score': 0.44}, {'connected_gene': 'GC11M008383', 'score': 0.34}]
chr11 GH11I008384 8384201 8384623 0.97 [{'connected_gene': 'STK33', 'score': 18.93}, {'connected_gene': 'TRIM66', 'score': 4.62}, {'connected_gene': 'GC11P008380', 'score': 0.77}, {'connected_gene': 'PIR32026', 'score': 0.44}, {'connected_gene': 'GC11M008392', 'score': 0.44}, {'connected_gene': 'GC11M008383', 'score': 0.37}]
chr11 GH11I008593 8593600 8594680 1.85 [{'connected_gene': 'STK33', 'score': 568.18}, {'connected_gene': 'AKIP1', 'score': 5.4}, {'connected_gene': 'GC11P008585', 'score': 0.44}]
chr11 GH11I008531 8531295 8532693 0.64 [{'connected_gene': 'STK33', 'score': 18.75}, {'connected_gene': 'ENSG00000252778', 'score': 11.78}, {'connected_gene': 'TMEM9B-AS1', 'score': 4.77}, {'connected_gene': 'GC11P008555', 'score': 0.34}, {'connected_gene': 'GC11M008383', 'score': 0.13}]
chr11 GH11I007611 7611814 7613915 0.98 [{'connected_gene': 'STK33', 'score': 4.56}, {'connected_gene': 'GC11P007617', 'score': 0.77}, {'connected_gene': 'LOC105376535', 'score': 0.37}, {'connected_gene': 'PPFIBP2', 'score': 0.15}]
chr11 GH11I008443 8442274 8442423 0.38 [{'connected_gene': 'STK33', 'score': 13.69}, {'connected_gene': 'GC11M008383', 'score': 0.28}, {'connected_gene': 'GC11P008555', 'score': 0.14}]
chr11 GH11I008503 8503754 8504788 0.62 [{'connected_gene': 'STK33', 'score': 23.77}, {'connected_gene': 'ENSG00000252778', 'score': 10.33}, {'connected_gene': 'GC11P008555', 'score': 0.23}, {'connected_gene': 'GC11M008383', 'score': 0.15}]
chr11 GH11I008442 8442054 8442203 0.43 [{'connected_gene': 'STK33', 'score': 14.92}, {'connected_gene': 'GC11M008383', 'score': 0.28}, {'connected_gene': 'GC11P008555', 'score': 0.14}]
chr11 GH11I008532 8532967 8534000 0.64 [{'connected_gene': 'STK33', 'score': 21.79}, {'connected_gene': 'ENSG00000252778', 'score': 11.78}, {'connected_gene': 'GC11P008555', 'score': 0.34}, {'connected_gene': 'GC11M008383', 'score': 0.13}]
chr11 GH11I008387 8387032 8387517 0.31 [{'connected_gene': 'STK33', 'score': 4.8}, {'connected_gene': 'PIR32026', 'score': 0.77}, {'connected_gene': 'GC11M008392', 'score': 0.77}, {'connected_gene': 'GC11P008380', 'score': 0.44}, {'connected_gene': 'GC11M008383', 'score': 0.37}]
chr11 GH11I008229 8229394 8229635 1.32 [{'connected_gene': 'LOC105376536', 'score': 550.77}, {'connected_gene': 'STK33', 'score': 3.68}, {'connected_gene': 'TRIM66', 'score': 1.55}, {'connected_gene': 'GC11M008226', 'score': 0.77}, {'connected_gene': 'LMO1', 'score': 0.28}]
chr11 GH11I008356 8356099 8357790 0.38 [{'connected_gene': 'ENSG00000252778', 'score': 10.53}, {'connected_gene': 'TRIM66', 'score': 9.26}, {'connected_gene': 'STK33', 'score': 6.07}, {'connected_gene': 'TMEM9B-AS1', 'score': 4.68}, {'connected_gene': 'GC11P008380', 'score': 0.34}, {'connected_gene': 'GC11M008295', 'score': 0.21}]
chr11 GH11I008583 8583780 8584948 0.6 [{'connected_gene': 'GC11P008585', 'score': 550.77}, {'connected_gene': 'GC11P008582', 'score': 550.77}, {'connected_gene': 'STK33', 'score': 18.43}, {'connected_gene': 'SNORA3A', 'score': 10.1}, {'connected_gene': 'RPL27A', 'score': 10.1}, {'connected_gene': 'TMEM9B-AS1', 'score': 5.16}]
chr11 GH11I008693 8693104 8694447 0.49 [{'connected_gene': 'ENSG00000254665', 'score': 550.77}, {'connected_gene': 'STK33', 'score': 12.7}, {'connected_gene': 'RPL27A', 'score': 0.39}, {'connected_gene': 'PIR56836', 'score': 0.23}, {'connected_gene': 'ST5', 'score': 0.08}]
chr11 GH11I008389 8389054 8390163 0.74 [{'connected_gene': 'PIR32026', 'score': 550.77}, {'connected_gene': 'GC11M008392', 'score': 550.77}, {'connected_gene': 'STK33', 'score': 9.88}, {'connected_gene': 'TMEM9B-AS1', 'score': 5.18}, {'connected_gene': 'GC11P008380', 'score': 0.44}, {'connected_gene': 'GC11M008383', 'score': 0.39}]
chr11 GH11I008566 8566734 8566883 0.56 [{'connected_gene': 'ENSG00000252778', 'score': 0.39}, {'connected_gene': 'GC11P008582', 'score': 0.37}, {'connected_gene': 'STK33', 'score': 0.31}]
chr11 GH11I008586 8586216 8586231 0.24 [{'connected_gene': 'GC11P008585', 'score': 550.77}, {'connected_gene': 'SNORA3A', 'score': 10.1}, {'connected_gene': 'RPL27A', 'score': 10.1}, {'connected_gene': 'STK33', 'score': 2.71}, {'connected_gene': 'ASCL3', 'score': 2.09}]
chr11 GH11I008610 8610990 8611002 0.49 [{'connected_gene': 'PIR41868', 'score': 550.77}, {'connected_gene': 'ASCL3', 'score': 2.2}, {'connected_gene': 'STK33', 'score': 0.37}]

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