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
ENST00000401722 [[98987368, 98987518], [98987756, 98987913], [98989504, 98989626], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98994948, 98995059], [98995145, 98995485]] [[98987756, 98987913], [98989504, 98989626], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98994948, 98995059], [98995145, 98995306]]
ENST00000228318 [[98987402, 98987518], [98987752, 98987913], [98989210, 98989335], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98994948, 98995059], [98995145, 98995775]] [[98987756, 98987913], [98989210, 98989335], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98994948, 98995059], [98995145, 98995306]]
ENST00000188376 [[98987402, 98987913], [98989504, 98989626], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98994948, 98995059], [98995145, 98995775]] [[98987756, 98987913], [98989504, 98989626], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98994948, 98995059], [98995145, 98995306]]
ENST00000551917 [[98987427, 98987518], [98987756, 98987913], [98989210, 98989335], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98994948, 98995059], [98995145, 98995485]] [[98987756, 98987913], [98989210, 98989335], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98994948, 98995059], [98995145, 98995306]]
ENST00000546766 [[98987432, 98987518], [98987752, 98989626], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98994948, 98995059], [98995145, 98995775]] None
ENST00000548046 [[98987433, 98987518], [98987752, 98987913], [98989210, 98989335], [98991633, 98991812]] [[98987756, 98987913], [98989210, 98989335], [98991633, 98991812]]
ENST00000552981 [[98987437, 98987518], [98987752, 98987913], [98989504, 98989626], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98994948, 98995059], [98995145, 98995486]] [[98987756, 98987913], [98989504, 98989626], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98994948, 98995059], [98995145, 98995306]]
ENST00000551265 [[98987463, 98987518], [98987756, 98988281]] [[98987756, 98988125]]
ENST00000550695 [[98987463, 98987913], [98989210, 98989335], [98991633, 98991814]] [[98987756, 98987913], [98989210, 98989335], [98991633, 98991814]]
ENST00000547534 [[98987463, 98987518], [98987752, 98987913], [98989504, 98989626], [98991633, 98991851]] [[98987756, 98987913], [98989504, 98989626], [98991633, 98991825]]
ENST00000549338 [[98987473, 98987522], [98987752, 98987913], [98989504, 98989626], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98994948, 98995059], [98995145, 98995452]] [[98987756, 98987913], [98989504, 98989626], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98994948, 98995059], [98995145, 98995306]]
ENST00000551123 [[98987473, 98987518], [98987756, 98987913], [98989210, 98989439], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98994948, 98995059], [98995145, 98995485]] [[98987756, 98987913], [98989210, 98989368]]
ENST00000548847 [[98987502, 98987913], [98989504, 98989626], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98995145, 98995446]] [[98987756, 98987913], [98989504, 98989626], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98995145, 98995306]]
ENST00000547908 [[98989441, 98989626], [98991633, 98992341]] None
ENST00000547444 [[98991342, 98991813], [98992299, 98992345]] None
ENST00000548480 [[98993635, 98993905], [98994948, 98995059], [98995145, 98995486]] None
ENST00000547869 [[98994842, 98995059], [98995145, 98995946]] None
NM_002635 [[98987402, 98987518], [98987752, 98987913], [98989504, 98989626], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98994948, 98995059], [98995145, 98995778]] [[98987756, 98987913], [98989504, 98989626], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98994948, 98995059], [98995145, 98995306]]
NM_005888 [[98987402, 98987518], [98987752, 98987913], [98989210, 98989335], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98994948, 98995059], [98995145, 98995778]] [[98987756, 98987913], [98989210, 98989335], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98994948, 98995059], [98995145, 98995306]]
NM_213611 [[98987402, 98987913], [98989504, 98989626], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98994948, 98995059], [98995145, 98995778]] [[98987756, 98987913], [98989504, 98989626], [98991633, 98991813], [98992299, 98992481], [98993732, 98993905], [98994948, 98995059], [98995145, 98995306]]
Promoter
Chrom Start End Description
chr12 98987458 98987473 CAGE_peak_1_at_SLC25A3_5end
chr12 98993738 98993754 CAGE_peak_2_at_SLC25A3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I098527 98527303 98528358 0.31 [{'connected_gene': 'LINC02453', 'score': 11.54}, {'connected_gene': 'RNU4-41P', 'score': 11.4}, {'connected_gene': 'PPIAP8', 'score': 10.97}, {'connected_gene': 'SLC25A3', 'score': 10.96}, {'connected_gene': 'TMPO', 'score': 4.86}, {'connected_gene': 'GC12M098524', 'score': 0.77}, {'connected_gene': 'GC12M098549', 'score': 0.34}]
chr12 GH12I098592 98592385 98596646 2.07 [{'connected_gene': 'SLC25A3', 'score': 561.43}, {'connected_gene': 'GC12M098595', 'score': 550.77}, {'connected_gene': 'TMPO', 'score': 52.79}, {'connected_gene': 'IKBIP', 'score': 11.12}, {'connected_gene': 'APAF1', 'score': 11.12}, {'connected_gene': 'TMPO-AS1', 'score': 10.02}]
chr12 GH12I098635 98635725 98636644 0.77 [{'connected_gene': 'SLC25A3', 'score': 10.98}, {'connected_gene': 'PPIAP8', 'score': 10.98}, {'connected_gene': 'SNORA53', 'score': 10.91}, {'connected_gene': 'IKBIP', 'score': 7.36}, {'connected_gene': 'GC12M098601', 'score': 0.31}]
chr12 GH12I098618 98618601 98619831 0.49 [{'connected_gene': 'SLC25A3', 'score': 18.29}, {'connected_gene': 'APAF1', 'score': 17.83}, {'connected_gene': 'IKBIP', 'score': 12.58}, {'connected_gene': 'PPIAP8', 'score': 11.41}, {'connected_gene': 'GC12M098601', 'score': 0.39}]
chr12 GH12I098739 98739641 98744263 0.79 [{'connected_gene': 'IKBIP', 'score': 18.14}, {'connected_gene': 'SLC25A3', 'score': 5.31}, {'connected_gene': 'GC12P098771', 'score': 0.31}, {'connected_gene': 'GC12P098656', 'score': 0.17}]
chr12 GH12I098643 98643095 98647237 2.06 [{'connected_gene': 'IKBIP', 'score': 572.77}, {'connected_gene': 'APAF1', 'score': 550.77}, {'connected_gene': 'TMPO', 'score': 21.72}, {'connected_gene': 'SLC25A3', 'score': 18.15}, {'connected_gene': 'PPIAP8', 'score': 11.31}, {'connected_gene': 'GC12P098649', 'score': 0.77}]
chr12 GH12I098525 98525698 98526518 0.31 [{'connected_gene': 'GC12M098524', 'score': 550.77}, {'connected_gene': 'LINC02453', 'score': 11.54}, {'connected_gene': 'RNU4-41P', 'score': 11.4}, {'connected_gene': 'SLC25A3', 'score': 10.96}, {'connected_gene': 'PPIAP8', 'score': 10.96}, {'connected_gene': 'TMPO', 'score': 5.03}, {'connected_gene': 'GC12M098549', 'score': 0.34}]
chr12 GH12I098650 98650205 98650517 0.24 [{'connected_gene': 'GC12P098649', 'score': 550.77}, {'connected_gene': 'IKBIP', 'score': 22.43}, {'connected_gene': 'SLC25A3', 'score': 10.62}, {'connected_gene': 'PPIAP8', 'score': 10.62}, {'connected_gene': 'SNORA53', 'score': 10.09}, {'connected_gene': 'LINC02453', 'score': 10.05}, {'connected_gene': 'GC12M098651', 'score': 0.77}, {'connected_gene': 'APAF1', 'score': 0.44}]
chr12 GH12I098605 98605946 98608200 0.77 [{'connected_gene': 'GC12M098601', 'score': 550.77}, {'connected_gene': 'IKBIP', 'score': 29.58}, {'connected_gene': 'APAF1', 'score': 12.14}, {'connected_gene': 'SLC25A3', 'score': 7.27}, {'connected_gene': 'GC12M098602', 'score': 0.77}]
chr12 GH12I098502 98502463 98505331 1.82 [{'connected_gene': 'GC12P098505', 'score': 550.77}, {'connected_gene': 'TRD-GTC1-1', 'score': 550.77}, {'connected_gene': 'LINC02453', 'score': 550.77}, {'connected_gene': 'TRW-CCA4-1', 'score': 550.77}, {'connected_gene': 'TMPO', 'score': 18.11}, {'connected_gene': 'SLC9A7P1', 'score': 10.28}, {'connected_gene': 'SLC25A3', 'score': 5.47}]

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