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
ENST00000549155 [[101111303, 101111325], [101127551, 101127635], [101133631, 101133883], [101295423, 101295618], [101316003, 101316108], [101333092, 101333229], [101336154, 101336313], [101365083, 101365184], [101368560, 101368667], [101381316, 101381448], [101413811, 101413902]] [[101295563, 101295618], [101316003, 101316108], [101333092, 101333229], [101336154, 101336313], [101365083, 101365184], [101368560, 101368576]]
ENST00000538618 [[101111303, 101111325], [101127551, 101127635], [101133631, 101133883], [101295423, 101295618], [101316003, 101316108], [101333092, 101333229], [101336154, 101336313], [101365083, 101365184], [101368560, 101368667], [101381316, 101381448], [101413811, 101413902]] [[101111303, 101111325], [101127551, 101127635], [101133631, 101133883], [101295423, 101295618], [101316003, 101316108], [101333092, 101333229], [101336154, 101336313], [101365083, 101365184], [101368560, 101368576]]
ENST00000392979 [[101188584, 101188805], [101295423, 101295618], [101333092, 101333229], [101336154, 101336313], [101365083, 101365184], [101368622, 101368667], [101381316, 101381448], [101413811, 101413918], [101430872, 101430928], [101433732, 101433854], [101436111, 101436246], [101437316, 101437413], [101442118, 101442179], [101472970, 101473053], [101477455, 101477596], [101480437, 101480602], [101488033, 101488070], [101490313, 101490425], [101491428, 101491486], [101491625, 101491723], [101493355, 101493498], [101504181, 101504334], [101505340, 101505488], [101510456, 101510576], [101514297, 101514403], [101520656, 101520852], [101521638, 101522419]] [[101295563, 101295618], [101333092, 101333229], [101336154, 101336313], [101365083, 101365184], [101368622, 101368667], [101381316, 101381448], [101413811, 101413918], [101430872, 101430928], [101433732, 101433854], [101436111, 101436246], [101437316, 101437413], [101442118, 101442179], [101472970, 101473053], [101477455, 101477596], [101480437, 101480602], [101488033, 101488070], [101490313, 101490425], [101491428, 101491486], [101491625, 101491723], [101493355, 101493498], [101504181, 101504334], [101505340, 101505488], [101510456, 101510576], [101514297, 101514403], [101520656, 101520848]]
ENST00000299222 [[101188734, 101188805], [101295423, 101295618], [101316003, 101316108], [101333092, 101333229], [101336154, 101336313], [101365083, 101365184], [101368622, 101368667], [101381316, 101381448], [101413811, 101413918], [101430872, 101430928], [101433732, 101433854], [101436111, 101436246], [101437316, 101437413], [101442118, 101442179], [101472970, 101473053], [101480437, 101480602], [101488033, 101488070], [101490313, 101490425], [101491428, 101491486], [101491625, 101491723], [101493355, 101493498], [101504181, 101504334], [101505340, 101505488], [101510456, 101510576], [101514297, 101514403], [101520656, 101520852], [101521638, 101522114]] [[101442166, 101442179], [101472970, 101473053], [101480437, 101480602], [101488033, 101488070], [101490313, 101490425], [101491428, 101491486], [101491625, 101491723], [101493355, 101493498], [101504181, 101504334], [101505340, 101505488], [101510456, 101510576], [101514297, 101514403], [101520656, 101520848]]
ENST00000392977 [[101188735, 101188805], [101295423, 101295618], [101316003, 101316108], [101333092, 101333229], [101336154, 101336313], [101365083, 101365184], [101368622, 101368667], [101381316, 101381448], [101413811, 101413918], [101430872, 101430928], [101433732, 101433854], [101436111, 101436246], [101437316, 101437413], [101442118, 101442179], [101472970, 101473053], [101477455, 101477596], [101480437, 101480602], [101488033, 101488070], [101490313, 101490425], [101491428, 101491486], [101491625, 101491723], [101493355, 101493498], [101504181, 101504334], [101505340, 101505488], [101510456, 101510576], [101514297, 101514403], [101520656, 101520852], [101521638, 101522065]] [[101295563, 101295618], [101316003, 101316108], [101333092, 101333229], [101336154, 101336313], [101365083, 101365184], [101368622, 101368667], [101381316, 101381448], [101413811, 101413918], [101430872, 101430928], [101433732, 101433854], [101436111, 101436246], [101437316, 101437413], [101442118, 101442179], [101472970, 101473053], [101477455, 101477596], [101480437, 101480602], [101488033, 101488070], [101490313, 101490425], [101491428, 101491486], [101491625, 101491723], [101493355, 101493498], [101504181, 101504334], [101505340, 101505488], [101510456, 101510576], [101514297, 101514403], [101520656, 101520848]]
ENST00000548940 [[101436157, 101436246], [101437316, 101437413], [101442118, 101442179], [101480437, 101480591]] None
ENST00000550015 [[101441765, 101441811], [101442118, 101442179], [101472970, 101473053], [101480437, 101480602], [101488033, 101488070], [101490313, 101490425], [101491428, 101491486], [101491625, 101491723], [101493355, 101493498], [101504181, 101504334], [101505340, 101505488], [101510456, 101510576], [101514297, 101514403], [101520656, 101520852], [101521638, 101522405]] [[101442166, 101442179], [101472970, 101473053], [101480437, 101480602], [101488033, 101488070], [101490313, 101490425], [101491428, 101491486], [101491625, 101491723], [101493355, 101493498], [101504181, 101504334], [101505340, 101505488], [101510456, 101510576], [101514297, 101514403], [101520656, 101520848]]
ENST00000551148 [[101188373, 101188805], [101246145, 101246231], [101295423, 101295459]] None
ENST00000546991 [[101188555, 101188805], [101235963, 101236015], [101279226, 101279322], [101295423, 101295596]] [[101295563, 101295596]]
ENST00000549234 [[101380896, 101380968], [101381316, 101381448], [101413811, 101413918], [101430872, 101430928], [101433732, 101433854], [101436111, 101436159]] None
NM_178826 [[101188373, 101188805], [101295423, 101295618], [101333092, 101333229], [101336154, 101336313], [101365083, 101365184], [101368622, 101368667], [101381316, 101381448], [101413811, 101413918], [101430872, 101430928], [101433732, 101433854], [101436111, 101436246], [101437316, 101437413], [101442118, 101442179], [101472970, 101473053], [101477455, 101477596], [101480437, 101480602], [101488033, 101488070], [101490313, 101490425], [101491428, 101491486], [101491625, 101491723], [101493355, 101493498], [101504181, 101504334], [101505340, 101505488], [101510456, 101510576], [101514297, 101514403], [101520656, 101520852], [101521638, 101522419]] [[101295563, 101295618], [101333092, 101333229], [101336154, 101336313], [101365083, 101365184], [101368622, 101368667], [101381316, 101381448], [101413811, 101413918], [101430872, 101430928], [101433732, 101433854], [101436111, 101436246], [101437316, 101437413], [101442118, 101442179], [101472970, 101473053], [101477455, 101477596], [101480437, 101480602], [101488033, 101488070], [101490313, 101490425], [101491428, 101491486], [101491625, 101491723], [101493355, 101493498], [101504181, 101504334], [101505340, 101505488], [101510456, 101510576], [101514297, 101514403], [101520656, 101520848]]
NM_001286615 [[101188373, 101188805], [101295423, 101295618], [101316003, 101316108], [101333092, 101333229], [101336154, 101336313], [101365083, 101365184], [101368622, 101368667], [101381316, 101381448], [101413811, 101413918], [101430872, 101430928], [101433732, 101433854], [101436111, 101436246], [101437316, 101437413], [101442118, 101442179], [101472970, 101473053], [101477455, 101477596], [101480437, 101480602], [101488033, 101488070], [101490313, 101490425], [101491428, 101491486], [101491625, 101491723], [101493355, 101493498], [101504181, 101504334], [101505340, 101505488], [101510456, 101510576], [101514297, 101514403], [101520656, 101520852], [101521638, 101522419]] [[101295563, 101295618], [101316003, 101316108], [101333092, 101333229], [101336154, 101336313], [101365083, 101365184], [101368622, 101368667], [101381316, 101381448], [101413811, 101413918], [101430872, 101430928], [101433732, 101433854], [101436111, 101436246], [101437316, 101437413], [101442118, 101442179], [101472970, 101473053], [101477455, 101477596], [101480437, 101480602], [101488033, 101488070], [101490313, 101490425], [101491428, 101491486], [101491625, 101491723], [101493355, 101493498], [101504181, 101504334], [101505340, 101505488], [101510456, 101510576], [101514297, 101514403], [101520656, 101520848]]
NM_001286616 [[101295423, 101295618], [101316003, 101316108], [101333092, 101333229], [101336154, 101336313], [101365083, 101365184], [101368622, 101368667], [101381316, 101381448], [101413811, 101413918], [101430872, 101430928], [101433732, 101433854], [101436111, 101436246], [101437316, 101437413], [101442118, 101442179], [101472970, 101473053], [101477455, 101477596], [101480437, 101480602], [101488033, 101488070], [101490313, 101490425], [101491428, 101491486], [101491625, 101491723], [101493355, 101493498], [101504181, 101504334], [101505340, 101505488], [101510456, 101510576], [101514297, 101514403], [101520656, 101520856], [101521638, 101522419]] [[101295563, 101295618], [101316003, 101316108], [101333092, 101333229], [101336154, 101336313], [101365083, 101365184], [101368622, 101368667], [101381316, 101381448], [101413811, 101413918], [101430872, 101430928], [101433732, 101433854], [101436111, 101436246], [101437316, 101437413], [101442118, 101442179], [101472970, 101473053], [101477455, 101477596], [101480437, 101480602], [101488033, 101488070], [101490313, 101490425], [101491428, 101491486], [101491625, 101491723], [101493355, 101493498], [101504181, 101504334], [101505340, 101505488], [101510456, 101510576], [101514297, 101514403], [101520656, 101520848]]
Promoter
Chrom Start End Description
chr12 101110998 101111013 CAGE_peak_9_at_ANO4_5end
chr12 101111015 101111054 CAGE_peak_3_at_ANO4_5end
chr12 101111057 101111091 CAGE_peak_6_at_ANO4_5end
chr12 101188358 101188373 CAGE_peak_12_at_ANO4_5end
chr12 101188377 101188411 CAGE_peak_2_at_ANO4_5end
chr12 101188417 101188439 CAGE_peak_10_at_ANO4_5end
chr12 101188502 101188513 CAGE_peak_13_at_ANO4_5end
chr12 101188514 101188532 CAGE_peak_8_at_ANO4_5end
chr12 101188547 101188565 CAGE_peak_5_at_ANO4_5end
chr12 101188608 101188621 CAGE_peak_7_at_ANO4_5end
chr12 101188670 101188704 CAGE_peak_1_at_ANO4_5end
chr12 101188718 101188745 CAGE_peak_4_at_ANO4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I101051 101051073 101053724 1.1 [{'connected_gene': 'ACTR6', 'score': 14.15}, {'connected_gene': 'UTP20', 'score': 12.88}, {'connected_gene': 'ENSG00000257543', 'score': 9.87}, {'connected_gene': 'GAS2L3', 'score': 4.78}, {'connected_gene': 'SNX5P2', 'score': 0.39}, {'connected_gene': 'ENSG00000258007', 'score': 0.39}, {'connected_gene': 'ANO4', 'score': 0.06}]
chr12 GH12I101126 101126712 101128138 0.2 [{'connected_gene': 'SLC5A8', 'score': 4.58}, {'connected_gene': 'GC12M101101', 'score': 0.37}, {'connected_gene': 'SNX5P2', 'score': 0.21}, {'connected_gene': 'ANO4', 'score': 0.05}]
chr12 GH12I101204 101204770 101205150 0.44 [{'connected_gene': 'ANO4', 'score': 1.29}, {'connected_gene': 'SLC5A8', 'score': 0.44}, {'connected_gene': 'RNU6-768P', 'score': 0.44}, {'connected_gene': 'GC12M101200', 'score': 0.44}]
chr12 GH12I100794 100794313 100795812 1.26 [{'connected_gene': 'ANO4', 'score': 550.18}, {'connected_gene': 'GC12M100785', 'score': 0.77}, {'connected_gene': 'GC12M100829', 'score': 0.29}]
chr12 GH12I100867 100867539 100867598 0.5 [{'connected_gene': 'ANO4', 'score': 550.1}, {'connected_gene': 'ENSG00000257325', 'score': 0.44}, {'connected_gene': 'GC12P100921', 'score': 0.23}]
chr12 GH12I100705 100705272 100707303 0.54 [{'connected_gene': 'ANO4', 'score': 5.26}, {'connected_gene': 'GC12P100711', 'score': 0.77}, {'connected_gene': 'GC12M100678', 'score': 0.44}]
chr12 GH12I100717 100717400 100718960 1.06 [{'connected_gene': 'ANO4', 'score': 582.74}, {'connected_gene': 'GC12M100764', 'score': 0.23}]
chr12 GH12I100718 100716643 100716792 0.38 [{'connected_gene': 'ANO4', 'score': 550.77}, {'connected_gene': 'GC12P100711', 'score': 0.44}]
chr12 GH12I100716 100716063 100716212 0.38 [{'connected_gene': 'ANO4', 'score': 550.77}, {'connected_gene': 'GC12P100711', 'score': 0.77}]
chr12 GH12I100986 100986639 100988614 1.05 [{'connected_gene': 'RNY1P16', 'score': 4.64}, {'connected_gene': 'GC12P100964', 'score': 0.34}, {'connected_gene': 'ENSG00000258007', 'score': 0.23}, {'connected_gene': 'ANO4', 'score': 0.06}]
chr12 GH12I101045 101045299 101046765 0.38 [{'connected_gene': 'ENSG00000258007', 'score': 0.44}, {'connected_gene': 'SNX5P2', 'score': 0.34}, {'connected_gene': 'ANO4', 'score': 0.05}]
chr12 GH12I101039 101039205 101043561 0.49 [{'connected_gene': 'ENSG00000258007', 'score': 0.77}, {'connected_gene': 'SNX5P2', 'score': 0.31}, {'connected_gene': 'ANO4', 'score': 0.05}]
chr12 GH12I100953 100953368 100956030 0.52 [{'connected_gene': 'GC12P100964', 'score': 0.39}, {'connected_gene': 'GC12P100921', 'score': 0.29}, {'connected_gene': 'ANO4', 'score': 0.07}]
chr12 GH12I100752 100752653 100755747 0.2 [{'connected_gene': 'GC12M100764', 'score': 0.37}, {'connected_gene': 'ANO4', 'score': 0.28}]
chr12 GH12I100926 100926576 100927287 0.46 [{'connected_gene': 'GC12P100921', 'score': 0.44}, {'connected_gene': 'GC12P100964', 'score': 0.28}, {'connected_gene': 'ANO4', 'score': 0.08}]
chr12 GH12I100797 100797298 100801298 0.46 [{'connected_gene': 'GC12M100785', 'score': 0.44}, {'connected_gene': 'GC12M100829', 'score': 0.29}, {'connected_gene': 'ANO4', 'score': 0.18}]
chr12 GH12I100995 100995283 100995392 0.46 [{'connected_gene': 'GC12P100964', 'score': 0.29}, {'connected_gene': 'ENSG00000258007', 'score': 0.26}, {'connected_gene': 'ANO4', 'score': 0.06}]
chr12 GH12I101017 101017367 101023330 1.14 [{'connected_gene': 'ENSG00000258007', 'score': 0.37}, {'connected_gene': 'GC12P100964', 'score': 0.22}, {'connected_gene': 'ANO4', 'score': 0.06}]

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