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
ENST00000548884 [[100867485, 100867837], [100886280, 100886415], [100887047, 100887180], [100904555, 100904921], [100926235, 100926376], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100958191]] [[100887101, 100887180], [100904555, 100904921], [100926235, 100926376], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957267]]
ENST00000392986 [[100867693, 100867837], [100886280, 100886415], [100887047, 100887180], [100904555, 100904921], [100926235, 100926388], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957281]] [[100887101, 100887180], [100904555, 100904921], [100926235, 100926388], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957267]]
ENST00000321046 [[100867693, 100867837], [100886280, 100886415], [100887047, 100887180], [100904555, 100904921], [100926235, 100926376], [100928667, 100928801], [100930284, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957289]] [[100887101, 100887180], [100904555, 100904921], [100926235, 100926376], [100928667, 100928801], [100930284, 100930377]]
ENST00000549996 [[100867693, 100867837], [100886280, 100886415], [100887047, 100887180], [100904555, 100904921], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957289]] [[100887101, 100887180], [100904555, 100904921], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957267]]
ENST00000551379 [[100897137, 100897274], [100904555, 100904921], [100926235, 100926388], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957267]] [[100897165, 100897274], [100904555, 100904921], [100926235, 100926388], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957267]]
ENST00000188403 [[100897137, 100897274], [100904555, 100904921], [100926235, 100926376], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957420]] [[100897165, 100897274], [100904555, 100904921], [100926235, 100926376], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957267]]
ENST00000546380 [[100867732, 100867837], [100886280, 100886415], [100887047, 100887180], [100899352, 100899544]] [[100887101, 100887180], [100899352, 100899411]]
ENST00000548621 [[100887078, 100887180], [100893630, 100893802], [100899352, 100899574]] [[100887101, 100887180], [100893630, 100893725]]
ENST00000551184 [[100897230, 100897274], [100899352, 100899602]] [[100897230, 100897274], [100899352, 100899411]]
NM_001206978 [[100867550, 100867837], [100886280, 100886415], [100887047, 100887180], [100904555, 100904921], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957645]] [[100887101, 100887180], [100904555, 100904921], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957267]]
NM_005123 [[100867550, 100867837], [100886280, 100886415], [100887047, 100887180], [100904555, 100904921], [100926235, 100926376], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957645]] [[100887101, 100887180], [100904555, 100904921], [100926235, 100926376], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957267]]
NR_135146 [[100867550, 100867837], [100886280, 100886415], [100887047, 100887180], [100904555, 100904921], [100926235, 100926376], [100928667, 100928801], [100930284, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957645]] None
NM_001206979 [[100867550, 100867837], [100886280, 100886415], [100887047, 100887180], [100904555, 100904921], [100926235, 100926388], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957645]] [[100887101, 100887180], [100904555, 100904921], [100926235, 100926388], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957267]]
NM_001206977 [[100867550, 100867837], [100884593, 100884760], [100886280, 100886415], [100887047, 100887180], [100904555, 100904921], [100926235, 100926388], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957645]] [[100887101, 100887180], [100904555, 100904921], [100926235, 100926388], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957267]]
NM_001206992 [[100897137, 100897274], [100904555, 100904921], [100926235, 100926376], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957645]] [[100897165, 100897274], [100904555, 100904921], [100926235, 100926376], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957267]]
NM_001206993 [[100897137, 100897274], [100904555, 100904921], [100926235, 100926388], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957645]] [[100897165, 100897274], [100904555, 100904921], [100926235, 100926388], [100928667, 100928801], [100930289, 100930388], [100930725, 100930825], [100934449, 100934596], [100955662, 100955776], [100957028, 100957267]]
Promoter
Chrom Start End Description
chr12 100867627 100867652 CAGE_peak_1_at_NR1H4_5end
chr12 100867653 100867677 CAGE_peak_2_at_NR1H4_5end
chr12 100867695 100867706 CAGE_peak_6_at_NR1H4_5end
chr12 100867736 100867750 CAGE_peak_4_at_NR1H4_5end
chr12 100867777 100867788 CAGE_peak_5_at_NR1H4_5end
chr12 100897130 100897149 CAGE_peak_3_at_NR1H4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I100500 100500738 100506432 1.35 [{'connected_gene': 'NR1H4', 'score': 561.53}, {'connected_gene': 'UTP20', 'score': 12.93}, {'connected_gene': 'SCYL2', 'score': 11.94}, {'connected_gene': 'ENSG00000271177', 'score': 0.34}]
chr12 GH12I100412 100412292 100414458 0.2 [{'connected_gene': 'NR1H4', 'score': 10.79}, {'connected_gene': 'SLC17A8', 'score': 10.21}, {'connected_gene': 'GOLGA2P5', 'score': 4.35}, {'connected_gene': 'GC12P100454', 'score': 0.26}]
chr12 GH12I100492 100492549 100498486 0.63 [{'connected_gene': 'NR1H4', 'score': 12.06}, {'connected_gene': 'SLC17A8', 'score': 10.7}, {'connected_gene': 'GAS2L3', 'score': 4.56}, {'connected_gene': 'ENSG00000271177', 'score': 0.31}]
chr12 GH12I100527 100527153 100530070 0.46 [{'connected_gene': 'NR1H4', 'score': 11.37}, {'connected_gene': 'SLC17A8', 'score': 10.87}, {'connected_gene': 'ENSG00000271177', 'score': 0.77}, {'connected_gene': 'GC12P100548', 'score': 0.37}]
chr12 GH12I100447 100447401 100447600 0.2 [{'connected_gene': 'NR1H4', 'score': 11.58}, {'connected_gene': 'GC12P100454', 'score': 0.44}, {'connected_gene': 'SLC17A8', 'score': 0.16}]
chr12 GH12I100445 100445000 100445899 0.83 [{'connected_gene': 'NR1H4', 'score': 11.62}, {'connected_gene': 'GC12P100454', 'score': 0.44}, {'connected_gene': 'SLC17A8', 'score': 0.17}]
chr12 GH12I100439 100439383 100441159 0.43 [{'connected_gene': 'NR1H4', 'score': 11.35}, {'connected_gene': 'GC12P100454', 'score': 0.39}, {'connected_gene': 'SLC17A8', 'score': 0.18}]
chr12 GH12I100483 100483895 100485727 0.74 [{'connected_gene': 'NR1H4', 'score': 0.39}, {'connected_gene': 'ENSG00000271177', 'score': 0.26}]
chr12 GH12I100489 100489171 100490732 0.31 [{'connected_gene': 'NR1H4', 'score': 0.37}, {'connected_gene': 'ENSG00000271177', 'score': 0.28}]
chr12 GH12I100507 100507655 100508802 0.2 [{'connected_gene': 'NR1H4', 'score': 11.31}, {'connected_gene': 'ENSG00000271177', 'score': 0.37}]
chr12 GH12I100473 100473160 100477293 1.4 [{'connected_gene': 'NR1H4', 'score': 550.77}, {'connected_gene': 'ENSG00000271177', 'score': 0.23}]
chr12 GH12I100563 100563600 100565120 0.43 [{'connected_gene': 'GAS2L3', 'score': 0.44}, {'connected_gene': 'GC12P100548', 'score': 0.37}, {'connected_gene': 'NR1H4', 'score': 0.16}]
chr12 GH12I100553 100553440 100555077 1.07 [{'connected_gene': 'SLC17A8', 'score': 11.04}, {'connected_gene': 'NR1H4', 'score': 4.39}, {'connected_gene': 'GC12P100548', 'score': 0.44}, {'connected_gene': 'GAS2L3', 'score': 0.37}]

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