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
ENST00000360586 [[55405667, 55408408], [55411049, 55411188], [55422278, 55422412], [55423751, 55423922], [55424309, 55424353], [55429215, 55429269], [55429455, 55429571], [55429669, 55429890], [55433192, 55433324], [55433997, 55434112], [55448257, 55448414], [55451440, 55451578], [55453863, 55454105], [55455745, 55455930], [55457930, 55458118], [55462320, 55462531], [55467220, 55467362], [55467603, 55467710], [55468810, 55468903], [55473997, 55474093], [55475033, 55475084], [55475325, 55475437], [55477026, 55477178], [55480202, 55480314], [55493428, 55493521], [55493745, 55493795]] [[55408207, 55408408], [55411049, 55411188], [55422278, 55422412], [55423751, 55423922], [55424309, 55424353], [55429215, 55429269], [55429455, 55429571], [55429669, 55429890], [55433192, 55433324], [55433997, 55434112], [55448257, 55448414], [55451440, 55451578], [55453863, 55454105], [55455745, 55455930], [55457930, 55458118], [55462320, 55462531], [55467220, 55467362], [55467603, 55467710], [55468810, 55468903], [55473997, 55474093], [55475033, 55475084], [55475325, 55475437], [55477026, 55477178], [55480202, 55480314], [55493428, 55493505]]
ENST00000420358 [[55407876, 55408408], [55411049, 55411188], [55422278, 55422412], [55423751, 55423922], [55424309, 55424353], [55429215, 55429269], [55429455, 55429571], [55429669, 55429890], [55433192, 55433324], [55433997, 55434112], [55448257, 55448414], [55451440, 55451578], [55453863, 55454105], [55455745, 55455930], [55457930, 55458118], [55462320, 55462531], [55467220, 55467362], [55467603, 55467710], [55468810, 55468903], [55473997, 55474093], [55475033, 55475084], [55475325, 55475437], [55477026, 55477178], [55480202, 55480314], [55493745, 55493823]] [[55408207, 55408408], [55411049, 55411188], [55422278, 55422412], [55423751, 55423922], [55424309, 55424353], [55429215, 55429269], [55429455, 55429571], [55429669, 55429890], [55433192, 55433324], [55433997, 55434112], [55448257, 55448414], [55451440, 55451578], [55453863, 55454105], [55455745, 55455930], [55457930, 55458118], [55462320, 55462531], [55467220, 55467362], [55467603, 55467710], [55468810, 55468903], [55473997, 55474093], [55475033, 55475084], [55475325, 55475409]]
ENST00000567693 [[55407893, 55408408], [55411049, 55411188], [55422278, 55422412], [55423751, 55423922], [55424309, 55424353], [55429215, 55429269], [55429455, 55429571], [55429669, 55429890], [55433192, 55433324], [55433997, 55434112], [55448257, 55448414], [55451440, 55451578], [55453863, 55454105], [55457930, 55458100]] [[55454081, 55454105], [55457930, 55458100]]
ENST00000359167 [[55407893, 55408408], [55411049, 55411188], [55422278, 55422412], [55423751, 55423922], [55424309, 55424353], [55429215, 55429269], [55429455, 55429571], [55429669, 55429890], [55433192, 55433324], [55433997, 55434112], [55448257, 55448414], [55451440, 55451578], [55453863, 55454105], [55457930, 55458100]] [[55408207, 55408408], [55411049, 55411188], [55422278, 55422412], [55423751, 55423922], [55424309, 55424353], [55429215, 55429269], [55429455, 55429571], [55429669, 55429890], [55433192, 55433324], [55433997, 55434112], [55448257, 55448414], [55451440, 55451578], [55453863, 55454105], [55457930, 55458010]]
ENST00000421192 [[55408207, 55408408], [55411049, 55411188], [55422278, 55422412], [55423751, 55423922], [55424309, 55424353], [55429215, 55429269], [55429455, 55429571], [55429669, 55429890], [55433192, 55433324], [55433997, 55434112], [55448257, 55448414], [55451440, 55451578], [55453863, 55454105], [55455745, 55455930], [55457930, 55458118], [55462320, 55462531], [55467220, 55467362], [55467603, 55467710], [55468810, 55468903], [55473997, 55474093], [55475033, 55475084], [55475325, 55475437], [55477026, 55477178], [55480202, 55480314], [55493428, 55493521], [55493745, 55493807]] [[55408207, 55408408], [55411049, 55411188], [55422278, 55422412], [55423751, 55423922], [55424309, 55424353], [55429215, 55429269], [55429455, 55429571], [55429669, 55429890], [55433192, 55433324], [55433997, 55434112], [55448257, 55448414], [55451440, 55451578], [55453863, 55454105], [55455745, 55455930], [55457930, 55458118], [55462320, 55462531], [55467220, 55467362], [55467603, 55467710], [55468810, 55468903], [55473997, 55474093], [55475033, 55475084], [55475325, 55475409]]
ENST00000475379 [[55407988, 55408408], [55411049, 55411325]] None
ENST00000455555 [[55475033, 55475084], [55475325, 55475437], [55477026, 55477178], [55480202, 55480314], [55493428, 55493769]] [[55475033, 55475084], [55475325, 55475437], [55477026, 55477178], [55480202, 55480314], [55493428, 55493505]]
NM_007086 [[55405655, 55408408], [55411049, 55411188], [55422278, 55422412], [55423751, 55423922], [55424309, 55424353], [55429215, 55429269], [55429455, 55429571], [55429669, 55429890], [55433192, 55433324], [55433997, 55434112], [55448257, 55448414], [55451440, 55451578], [55453863, 55454105], [55455745, 55455930], [55457930, 55458118], [55462320, 55462531], [55467220, 55467362], [55467603, 55467710], [55468810, 55468903], [55473997, 55474093], [55475033, 55475084], [55475325, 55475437], [55477026, 55477178], [55480202, 55480314], [55493428, 55493521], [55493745, 55493819]] [[55408207, 55408408], [55411049, 55411188], [55422278, 55422412], [55423751, 55423922], [55424309, 55424353], [55429215, 55429269], [55429455, 55429571], [55429669, 55429890], [55433192, 55433324], [55433997, 55434112], [55448257, 55448414], [55451440, 55451578], [55453863, 55454105], [55455745, 55455930], [55457930, 55458118], [55462320, 55462531], [55467220, 55467362], [55467603, 55467710], [55468810, 55468903], [55473997, 55474093], [55475033, 55475084], [55475325, 55475437], [55477026, 55477178], [55480202, 55480314], [55493428, 55493505]]
NM_001008396 [[55405655, 55408408], [55411049, 55411188], [55422278, 55422412], [55423751, 55423922], [55424309, 55424353], [55429215, 55429269], [55429455, 55429571], [55429669, 55429890], [55433192, 55433324], [55433997, 55434112], [55448257, 55448414], [55451440, 55451578], [55453863, 55454105], [55455745, 55455930], [55457930, 55458118], [55462320, 55462531], [55467220, 55467362], [55467603, 55467710], [55468810, 55468903], [55473997, 55474093], [55475033, 55475084], [55475325, 55475437], [55477026, 55477178], [55480202, 55480314], [55493745, 55493819]] [[55408207, 55408408], [55411049, 55411188], [55422278, 55422412], [55423751, 55423922], [55424309, 55424353], [55429215, 55429269], [55429455, 55429571], [55429669, 55429890], [55433192, 55433324], [55433997, 55434112], [55448257, 55448414], [55451440, 55451578], [55453863, 55454105], [55455745, 55455930], [55457930, 55458118], [55462320, 55462531], [55467220, 55467362], [55467603, 55467710], [55468810, 55468903], [55473997, 55474093], [55475033, 55475084], [55475325, 55475409]]
Promoter
Chrom Start End Description
chr14 55493763 55493824 CAGE_peak_1_at_WDHD1_5end
chr14 55494125 55494134 CAGE_peak_3_at_WDHD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I055050 55050724 55053888 2.29 [{'connected_gene': 'MAPK1IP1L', 'score': 576.27}, {'connected_gene': 'LOC105370509', 'score': 19.0}, {'connected_gene': 'WDHD1', 'score': 15.37}, {'connected_gene': 'ATG14', 'score': 9.87}, {'connected_gene': 'GC14M055059', 'score': 0.44}, {'connected_gene': 'GC14M055058', 'score': 0.44}, {'connected_gene': 'GC14M054989', 'score': 0.03}]
chr14 GH14I055598 55598572 55602286 1.92 [{'connected_gene': 'KTN1', 'score': 561.48}, {'connected_gene': 'KTN1-AS1', 'score': 24.86}, {'connected_gene': 'ENSG00000259318', 'score': 24.44}, {'connected_gene': 'ATG14', 'score': 19.35}, {'connected_gene': 'WDHD1', 'score': 15.08}, {'connected_gene': 'TBPL2', 'score': 10.62}, {'connected_gene': 'SOCS4', 'score': 9.74}, {'connected_gene': 'GC14P055652', 'score': 0.23}]
chr14 GH14I054487 54487531 54491346 2.06 [{'connected_gene': 'GMFB', 'score': 550.77}, {'connected_gene': 'ATG14', 'score': 58.94}, {'connected_gene': 'BMP4', 'score': 49.13}, {'connected_gene': 'MAPK1IP1L', 'score': 26.53}, {'connected_gene': 'SOCS4', 'score': 22.61}, {'connected_gene': 'ENSG00000259318', 'score': 22.36}, {'connected_gene': 'CGRRF1', 'score': 11.85}, {'connected_gene': 'CNIH1', 'score': 11.05}, {'connected_gene': 'WDHD1', 'score': 9.89}, {'connected_gene': 'GC14P054145', 'score': 0.05}]
chr14 GH14I054942 54942801 54943200 0.43 [{'connected_gene': 'GCH1', 'score': 11.15}, {'connected_gene': 'GC14P054925', 'score': 0.37}, {'connected_gene': 'GC14M055005', 'score': 0.21}, {'connected_gene': 'WDHD1', 'score': 0.18}]
chr14 GH14I054782 54782401 54786078 1.37 [{'connected_gene': 'SAMD4A', 'score': 11.58}, {'connected_gene': 'GCH1', 'score': 10.07}, {'connected_gene': 'WDHD1', 'score': 4.17}, {'connected_gene': 'GMFB', 'score': 3.02}, {'connected_gene': 'FBXO34', 'score': 2.38}, {'connected_gene': 'LGALS3', 'score': 2.23}, {'connected_gene': 'MAPK1IP1L', 'score': 1.26}, {'connected_gene': 'PIR45415', 'score': 0.44}, {'connected_gene': 'GC14P054860', 'score': 0.19}]
chr14 GH14I054786 54786803 54788673 0.2 [{'connected_gene': 'SAMD4A', 'score': 11.58}, {'connected_gene': 'GCH1', 'score': 6.02}, {'connected_gene': 'WDHD1', 'score': 4.44}, {'connected_gene': 'PIR45415', 'score': 0.44}, {'connected_gene': 'GC14P054860', 'score': 0.19}]
chr14 GH14I054976 54976118 54977290 0.63 [{'connected_gene': 'ATG14', 'score': 6.21}, {'connected_gene': 'GC14M055005', 'score': 0.31}, {'connected_gene': 'GC14P054925', 'score': 0.23}, {'connected_gene': 'WDHD1', 'score': 0.23}]
chr14 GH14I055025 55025394 55028859 2.08 [{'connected_gene': 'SOCS4', 'score': 550.77}, {'connected_gene': 'WDHD1', 'score': 550.77}, {'connected_gene': 'MAPK1IP1L', 'score': 24.83}, {'connected_gene': 'LOC105370509', 'score': 19.12}, {'connected_gene': 'ENSG00000259318', 'score': 11.86}, {'connected_gene': 'GC14M054989', 'score': 0.03}]
chr14 GH14I055024 55024801 55025000 0.2 [{'connected_gene': 'WDHD1', 'score': 0.77}, {'connected_gene': 'RPSAP13', 'score': 0.37}, {'connected_gene': 'GC14M054989', 'score': 0.03}]
chr14 GH14I054395 54395883 54398618 2.01 [{'connected_gene': 'CDKN3', 'score': 550.77}, {'connected_gene': 'MAPK1IP1L', 'score': 28.06}, {'connected_gene': 'SOCS4', 'score': 14.16}, {'connected_gene': 'WDHD1', 'score': 13.83}, {'connected_gene': 'BMP4', 'score': 11.3}, {'connected_gene': 'CNIH1', 'score': 7.68}, {'connected_gene': 'GC14P054145', 'score': 0.07}]
chr14 GH14I054439 54439769 54442244 2.02 [{'connected_gene': 'CNIH1', 'score': 562.1}, {'connected_gene': 'ATG14', 'score': 13.36}, {'connected_gene': 'WDHD1', 'score': 10.53}, {'connected_gene': 'CDKN3', 'score': 0.26}, {'connected_gene': 'GC14P054145', 'score': 0.06}]