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
ENST00000376861 [[29690551, 29690777], [29691082, 29691304], [29691434, 29691704], [29691949, 29692225], [29692807, 29693083], [29693223, 29693340], [29693787, 29693820], [29694179, 29694303]] [[29691240, 29691304], [29691434, 29691704], [29691949, 29692225], [29692807, 29693083], [29693223, 29693340], [29693787, 29693820], [29694179, 29694184]]
ENST00000414333 [[29691055, 29691304], [29691434, 29691704], [29691949, 29692008]] [[29691240, 29691304], [29691434, 29691704], [29691949, 29692008]]
ENST00000334668 [[29691116, 29691304], [29691434, 29691704], [29691949, 29692225], [29692807, 29693083], [29693223, 29693340], [29693787, 29693820], [29694179, 29694300]] [[29691240, 29691304], [29691434, 29691704], [29691949, 29692225], [29692807, 29693083], [29693223, 29693340], [29693787, 29693820], [29694179, 29694184]]
ENST00000462777 [[29691168, 29691704], [29691949, 29692192]] None
ENST00000259951 [[29691184, 29691304], [29691434, 29691704], [29691949, 29692225], [29692807, 29693083], [29693223, 29693340], [29693787, 29693820], [29694659, 29695073]] [[29691240, 29691304], [29691434, 29691704], [29691949, 29692225], [29692807, 29693083], [29693223, 29693340], [29693787, 29693820], [29694659, 29694952]]
ENST00000489502 [[29691203, 29691231], [29692896, 29693083], [29693223, 29693340], [29693787, 29693820], [29694179, 29694303]] None
ENST00000482257 [[29691210, 29691304], [29691546, 29691704], [29691949, 29692225], [29692807, 29692864]] None
ENST00000440587 [[29691218, 29691304], [29691434, 29691704], [29691966, 29692225], [29692807, 29693083], [29693223, 29693340], [29694659, 29694781], [29704191, 29704347], [29705898, 29706234]] [[29691969, 29692225], [29692807, 29693083], [29693223, 29693340], [29694659, 29694781], [29704191, 29704200]]
ENST00000434407 [[29691240, 29691304], [29691434, 29691704], [29691949, 29692225], [29693223, 29693340], [29693787, 29693820], [29694179, 29694303]] [[29691240, 29691304], [29691434, 29691704], [29691949, 29692225], [29693223, 29693340], [29693787, 29693820], [29694179, 29694184]]
ENST00000486194 [[29691280, 29691704], [29691966, 29692129]] None
ENST00000485513 [[29691716, 29692225], [29692807, 29693076]] None
ENST00000429294 [[29691815, 29691859], [29692023, 29692225], [29692807, 29693083], [29693223, 29693340], [29693787, 29693820], [29694179, 29694303]] [[29691815, 29691859], [29692023, 29692225], [29692807, 29693083], [29693223, 29693340], [29693787, 29693820], [29694179, 29694184]]
ENST00000484704 [[29691933, 29692225], [29692807, 29693083], [29693223, 29693340], [29693787, 29694303]] None
ENST00000606273 [[29692193, 29692225], [29692807, 29693083], [29693228, 29693340], [29693787, 29693820], [29694179, 29694305]] None
ENST00000465459 [[29692830, 29693083], [29693223, 29693340], [29693787, 29693820], [29705898, 29705965], [29706152, 29706305]] None
ENST00000475996 [[29693230, 29693340], [29695733, 29697128]] None
ENST00000444621 [[29693310, 29693340], [29693769, 29693820], [29694659, 29695073]] [[29693310, 29693340], [29693769, 29693820], [29694659, 29694952]]
NM_001098478 [[29691116, 29691304], [29691434, 29691704], [29691949, 29692225], [29693223, 29693340], [29693787, 29693820], [29694179, 29694303]] [[29691240, 29691304], [29691434, 29691704], [29691949, 29692225], [29693223, 29693340], [29693787, 29693820], [29694179, 29694184]]
NM_018950 [[29691116, 29691304], [29691434, 29691704], [29691949, 29692225], [29692807, 29693083], [29693223, 29693340], [29693787, 29693820], [29694179, 29694303]] [[29691240, 29691304], [29691434, 29691704], [29691949, 29692225], [29692807, 29693083], [29693223, 29693340], [29693787, 29693820], [29694179, 29694184]]
NM_001098479 [[29691116, 29691304], [29691434, 29691704], [29691949, 29692225], [29692807, 29693083], [29693223, 29693340], [29693787, 29693820], [29694659, 29695073]] [[29691240, 29691304], [29691434, 29691704], [29691949, 29692225], [29692807, 29693083], [29693223, 29693340], [29693787, 29693820], [29694659, 29694952]]
NM_001098478 [[1207305, 1207493], [1207623, 1207893], [1208138, 1208414], [1209412, 1209529], [1209976, 1210009], [1210368, 1210492]] [[1207429, 1207493], [1207623, 1207893], [1208138, 1208414], [1209412, 1209529], [1209976, 1210009], [1210368, 1210373]]
NM_018950 [[1207305, 1207493], [1207623, 1207893], [1208138, 1208414], [1208996, 1209272], [1209412, 1209529], [1209976, 1210009], [1210368, 1210492]] [[1207429, 1207493], [1207623, 1207893], [1208138, 1208414], [1208996, 1209272], [1209412, 1209529], [1209976, 1210009], [1210368, 1210373]]
NM_001098479 [[1207305, 1207493], [1207623, 1207893], [1208138, 1208414], [1208996, 1209272], [1209412, 1209529], [1209976, 1210009], [1210844, 1211258]] [[1207429, 1207493], [1207623, 1207893], [1208138, 1208414], [1208996, 1209272], [1209412, 1209529], [1209976, 1210009], [1210844, 1211137]]
NM_001098478 [[991998, 992186], [992316, 992586], [992831, 993107], [994105, 994222], [994669, 994702], [995061, 995185]] [[992122, 992186], [992316, 992586], [992831, 993107], [994105, 994222], [994669, 994702], [995061, 995066]]
NM_018950 [[991998, 992186], [992316, 992586], [992831, 993107], [993689, 993965], [994105, 994222], [994669, 994702], [995061, 995185]] [[992122, 992186], [992316, 992586], [992831, 993107], [993689, 993965], [994105, 994222], [994669, 994702], [995061, 995066]]
NM_001098479 [[991998, 992186], [992316, 992586], [992831, 993107], [993689, 993965], [994105, 994222], [994669, 994702], [995543, 995957]] [[992122, 992186], [992316, 992586], [992831, 993107], [993689, 993965], [994105, 994222], [994669, 994702], [995543, 995836]]
NM_001098478 [[991650, 991838], [991968, 992238], [992483, 992759], [993757, 993881]] [[991774, 991838], [991968, 992238], [992483, 992759], [993757, 993881]]
NM_001098479 [[991650, 991838], [991968, 992238], [992483, 992759], [993341, 993617], [993757, 993881]] [[991774, 991838], [991968, 992238], [992483, 992759], [993341, 993617], [993757, 993881]]
NM_018950 [[991650, 991838], [991968, 992238], [992483, 992759], [993341, 993617], [993757, 993881]] [[991774, 991838], [991968, 992238], [992483, 992759], [993341, 993617], [993757, 993881]]
NM_001098478 [[991975, 992163], [992293, 992563], [992808, 993084], [994082, 994199], [994646, 994679], [995038, 995162]] [[992099, 992163], [992293, 992563], [992808, 993084], [994082, 994199], [994646, 994679], [995038, 995043]]
NM_018950 [[991975, 992163], [992293, 992563], [992808, 993084], [993666, 993942], [994082, 994199], [994646, 994679], [995038, 995162]] [[992099, 992163], [992293, 992563], [992808, 993084], [993666, 993942], [994082, 994199], [994646, 994679], [995038, 995043]]
NM_001098479 [[991975, 992163], [992293, 992563], [992808, 993084], [993666, 993942], [994082, 994199], [994646, 994679], [995520, 995934]] [[992099, 992163], [992293, 992563], [992808, 993084], [993666, 993942], [994082, 994199], [994646, 994679], [995520, 995813]]
NM_001098478 [[991621, 991809], [991939, 992209], [992454, 992730], [993728, 993845], [994292, 994325], [994684, 994808]] [[991745, 991809], [991939, 992209], [992454, 992730], [993728, 993845], [994292, 994325], [994684, 994689]]
NM_018950 [[991621, 991809], [991939, 992209], [992454, 992730], [993312, 993588], [993728, 993845], [994292, 994325], [994684, 994808]] [[991745, 991809], [991939, 992209], [992454, 992730], [993312, 993588], [993728, 993845], [994292, 994325], [994684, 994689]]
NM_001098479 [[991621, 991809], [991939, 992209], [992454, 992730], [993312, 993588], [993728, 993845], [994292, 994325], [995166, 995580]] [[991745, 991809], [991939, 992209], [992454, 992730], [993312, 993588], [993728, 993845], [994292, 994325], [995166, 995459]]
NM_001098478 [[1028896, 1029084], [1029214, 1029484], [1029729, 1030005], [1030976, 1031093], [1031540, 1031573], [1031933, 1032057]] [[1029020, 1029084], [1029214, 1029484], [1029729, 1030005], [1030976, 1031093], [1031540, 1031573], [1031933, 1031938]]
NM_018950 [[1028896, 1029084], [1029214, 1029484], [1029729, 1030005], [1030560, 1030836], [1030976, 1031093], [1031540, 1031573], [1031933, 1032057]] [[1029020, 1029084], [1029214, 1029484], [1029729, 1030005], [1030560, 1030836], [1030976, 1031093], [1031540, 1031573], [1031933, 1031938]]
NM_001098479 [[1028896, 1029084], [1029214, 1029484], [1029729, 1030005], [1030560, 1030836], [1030976, 1031093], [1031540, 1031573], [1032409, 1032823]] [[1029020, 1029084], [1029214, 1029484], [1029729, 1030005], [1030560, 1030836], [1030976, 1031093], [1031540, 1031573], [1032409, 1032702]]
Promoter
Chrom Start End Description
chr6 29691170 29691188 CAGE_peak_2_at_HLA-F_5end
chr6 29691198 29691227 CAGE_peak_1_at_HLA-F_5end
chr6 29691484 29691495 CAGE_peak_3_at_HLA-F_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I029728 29728268 29728573 0.66 [{'connected_gene': 'RPL23AP1', 'score': 550.77}, {'connected_gene': 'HLA-F', 'score': 22.69}, {'connected_gene': 'HCG4P5', 'score': 21.72}, {'connected_gene': 'HCG9P5', 'score': 0.37}, {'connected_gene': 'HLA-F-AS1', 'score': 0.34}, {'connected_gene': 'GC06M029612', 'score': 0.09}]
chr6 GH06I029789 29789623 29793513 1.35 [{'connected_gene': 'HCG4', 'score': 605.79}, {'connected_gene': 'HLA-V', 'score': 550.77}, {'connected_gene': 'HLA-H', 'score': 25.21}, {'connected_gene': 'ZNRD1', 'score': 22.84}, {'connected_gene': 'HLA-A', 'score': 22.51}, {'connected_gene': 'HLA-T', 'score': 21.04}, {'connected_gene': 'ZNRD1ASP', 'score': 18.05}, {'connected_gene': 'HCG4P3', 'score': 13.61}, {'connected_gene': 'ZFP57', 'score': 10.64}, {'connected_gene': 'TRIM31-AS1', 'score': 10.62}, {'connected_gene': 'TRIM31', 'score': 10.62}, {'connected_gene': 'GABBR1', 'score': 9.58}, {'connected_gene': 'SUMO2P1', 'score': 9.58}, {'connected_gene': 'HLA-F', 'score': 9.18}, {'connected_gene': 'HLA-G', 'score': 8.71}, {'connected_gene': 'MICE', 'score': 6.21}, {'connected_gene': 'GC06M029612', 'score': 0.13}]
chr6 GH06I029797 29796498 29798157 0.66 [{'connected_gene': 'HCG4', 'score': 55.79}, {'connected_gene': 'ZFP57', 'score': 21.88}, {'connected_gene': 'HLA-H', 'score': 20.97}, {'connected_gene': 'ZNRD1ASP', 'score': 17.5}, {'connected_gene': 'HLA-A', 'score': 17.2}, {'connected_gene': 'HCG4P5', 'score': 14.2}, {'connected_gene': 'HCG4P3', 'score': 13.63}, {'connected_gene': 'ZNRD1', 'score': 9.85}, {'connected_gene': 'HLA-G', 'score': 9.57}, {'connected_gene': 'TRIM31-AS1', 'score': 9.24}, {'connected_gene': 'TRIM31', 'score': 9.24}, {'connected_gene': 'HLA-F', 'score': 8.4}, {'connected_gene': 'HLA-P', 'score': 0.77}, {'connected_gene': 'HLA-V', 'score': 0.44}, {'connected_gene': 'GC06M029612', 'score': 0.13}]
chr6 GH06I029730 29730354 29730976 0.63 [{'connected_gene': 'MICE', 'score': 23.08}, {'connected_gene': 'HCG4P5', 'score': 21.69}, {'connected_gene': 'RPL23AP1', 'score': 0.77}, {'connected_gene': 'HLA-F', 'score': 0.44}, {'connected_gene': 'HLA-F-AS1', 'score': 0.37}, {'connected_gene': 'HCG9P5', 'score': 0.37}, {'connected_gene': 'GC06M029612', 'score': 0.09}]
chr6 GH06I029848 29848144 29848293 0.83 [{'connected_gene': 'HLA-W', 'score': 50.65}, {'connected_gene': 'HLA-H', 'score': 12.26}, {'connected_gene': 'TRIM31-AS1', 'score': 10.65}, {'connected_gene': 'TRIM31', 'score': 10.65}, {'connected_gene': 'HLA-F', 'score': 10.1}, {'connected_gene': 'MICF', 'score': 0.44}, {'connected_gene': 'LOC105375010', 'score': 0.44}, {'connected_gene': 'HCGVIII-2', 'score': 0.39}, {'connected_gene': 'GC06M029612', 'score': 0.21}]
chr6 GH06I029552 29552618 29552877 0.94 [{'connected_gene': 'IFITM4P', 'score': 4.82}, {'connected_gene': 'UBD', 'score': 4.64}, {'connected_gene': 'LOC105375009', 'score': 4.35}, {'connected_gene': 'HLA-F', 'score': 2.69}, {'connected_gene': 'HLA-A', 'score': 1.23}, {'connected_gene': 'OR2I1P', 'score': 0.77}]
chr6 GH06I030100 30100149 30104011 1.55 [{'connected_gene': 'HLA-K', 'score': 23.31}, {'connected_gene': 'RPL23AP1', 'score': 20.28}, {'connected_gene': 'TRIM31-AS1', 'score': 20.02}, {'connected_gene': 'HCG4', 'score': 17.59}, {'connected_gene': 'MICD', 'score': 17.13}, {'connected_gene': 'ZNRD1ASP', 'score': 16.4}, {'connected_gene': 'HCG4P3', 'score': 10.78}, {'connected_gene': 'HLA-J', 'score': 6.44}, {'connected_gene': 'ABCF1', 'score': 5.79}, {'connected_gene': 'HLA-W', 'score': 4.57}, {'connected_gene': 'HLA-A', 'score': 4.14}, {'connected_gene': 'RNF39', 'score': 2.81}, {'connected_gene': 'PPP1R11', 'score': 2.57}, {'connected_gene': 'HLA-F', 'score': 2.52}, {'connected_gene': 'TRIM26', 'score': 2.39}, {'connected_gene': 'TRIM39-RPP21', 'score': 2.18}, {'connected_gene': 'HLA-G', 'score': 2.08}, {'connected_gene': 'TRIM39', 'score': 1.84}, {'connected_gene': 'HLA-E', 'score': 1.4}, {'connected_gene': 'TRIM31', 'score': 0.39}]
chr6 GH06I029738 29738164 29738313 0.73 [{'connected_gene': 'HLA-J', 'score': 35.74}, {'connected_gene': 'RPL23AP1', 'score': 0.39}, {'connected_gene': 'HLA-F-AS1', 'score': 0.39}, {'connected_gene': 'HCG9P5', 'score': 0.39}, {'connected_gene': 'HLA-F', 'score': 0.37}, {'connected_gene': 'GC06M029612', 'score': 0.09}]
chr6 GH06I029705 29705744 29705893 0.69 [{'connected_gene': 'HLA-F', 'score': 15.82}, {'connected_gene': 'ZFP57', 'score': 12.28}, {'connected_gene': 'HLA-H', 'score': 12.07}, {'connected_gene': 'HLA-W', 'score': 4.85}, {'connected_gene': 'ZDHHC20P1', 'score': 0.77}, {'connected_gene': 'GC06M029612', 'score': 0.08}]
chr6 GH06I029722 29722532 29726633 2.11 [{'connected_gene': 'HLA-F', 'score': 598.55}, {'connected_gene': 'HLA-J', 'score': 43.28}, {'connected_gene': 'ZFP57', 'score': 27.02}, {'connected_gene': 'ZNRD1', 'score': 25.53}, {'connected_gene': 'HLA-H', 'score': 23.98}, {'connected_gene': 'HCG4P5', 'score': 21.72}, {'connected_gene': 'IFITM4P', 'score': 21.42}, {'connected_gene': 'HLA-F-AS1', 'score': 15.85}, {'connected_gene': 'DHX16', 'score': 15.42}, {'connected_gene': 'MICE', 'score': 15.25}, {'connected_gene': 'TRIM39', 'score': 14.56}, {'connected_gene': 'NRM', 'score': 13.94}, {'connected_gene': 'HCG4P7', 'score': 13.94}, {'connected_gene': 'PAIP1P1', 'score': 12.59}, {'connected_gene': 'MDC1', 'score': 12.4}, {'connected_gene': 'HLA-W', 'score': 12.25}, {'connected_gene': 'HLA-U', 'score': 12.16}, {'connected_gene': 'HLA-K', 'score': 12.07}, {'connected_gene': 'HCG4P3', 'score': 12.02}, {'connected_gene': 'HCG9P5', 'score': 11.3}, {'connected_gene': 'PPP1R10', 'score': 11.21}, {'connected_gene': 'ETF1P1', 'score': 11.03}, {'connected_gene': 'TRIM26', 'score': 10.43}, {'connected_gene': 'HCG4B', 'score': 10.42}, {'connected_gene': 'LINC02569', 'score': 9.99}, {'connected_gene': 'ZNRD1ASP', 'score': 8.92}, {'connected_gene': 'HCG4', 'score': 4.28}, {'connected_gene': 'RPL23AP1', 'score': 0.77}, {'connected_gene': 'GC06M029612', 'score': 0.09}]
chr6 GH06I029963 29963870 29968628 1.82 [{'connected_gene': 'HLA-A', 'score': 40.59}, {'connected_gene': 'HLA-K', 'score': 37.47}, {'connected_gene': 'HCG4P3', 'score': 35.57}, {'connected_gene': 'ZNRD1', 'score': 33.01}, {'connected_gene': 'HLA-W', 'score': 31.1}, {'connected_gene': 'TRIM39', 'score': 27.67}, {'connected_gene': 'HLA-H', 'score': 26.72}, {'connected_gene': 'PPP1R10', 'score': 25.83}, {'connected_gene': 'MDC1', 'score': 23.56}, {'connected_gene': 'DHX16', 'score': 23.05}, {'connected_gene': 'HLA-J', 'score': 22.44}, {'connected_gene': 'PAIP1P1', 'score': 21.39}, {'connected_gene': 'TRIM26', 'score': 21.37}, {'connected_gene': 'HCG4P5', 'score': 20.72}, {'connected_gene': 'MICD', 'score': 20.06}, {'connected_gene': 'GTF2H4', 'score': 18.66}, {'connected_gene': 'HCG4', 'score': 18.57}, {'connected_gene': 'IFITM4P', 'score': 16.93}, {'connected_gene': 'HLA-F', 'score': 16.35}, {'connected_gene': 'TRIM10', 'score': 13.89}, {'connected_gene': 'ZNRD1ASP', 'score': 12.73}, {'connected_gene': 'GNL1', 'score': 12.33}, {'connected_gene': 'ETF1P1', 'score': 11.74}, {'connected_gene': 'ABCF1', 'score': 10.93}, {'connected_gene': 'NRM', 'score': 10.71}, {'connected_gene': 'OR2H2', 'score': 9.68}, {'connected_gene': 'ZFP57', 'score': 9.51}, {'connected_gene': 'TRIM39-RPP21', 'score': 2.87}, {'connected_gene': 'PPP1R11', 'score': 2.71}, {'connected_gene': 'HCG9', 'score': 0.44}]
chr6 GH06I030133 30133515 30137708 1.39 [{'connected_gene': 'TRIM40', 'score': 558.24}, {'connected_gene': 'TRIM31', 'score': 47.03}, {'connected_gene': 'HLA-K', 'score': 14.53}, {'connected_gene': 'HLA-A', 'score': 14.26}, {'connected_gene': 'HCG4P3', 'score': 13.63}, {'connected_gene': 'TRIM31-AS1', 'score': 12.5}, {'connected_gene': 'TRIM10', 'score': 12.03}, {'connected_gene': 'TRIM15', 'score': 12.03}, {'connected_gene': 'PPP1R10', 'score': 11.38}, {'connected_gene': 'TRIM39', 'score': 11.23}, {'connected_gene': 'TRIM26', 'score': 10.12}, {'connected_gene': 'PAIP1P1', 'score': 10.03}, {'connected_gene': 'ZNRD1', 'score': 9.94}, {'connected_gene': 'MDC1', 'score': 9.88}, {'connected_gene': 'LINC00243', 'score': 8.4}, {'connected_gene': 'RPL23AP1', 'score': 7.49}, {'connected_gene': 'HLA-G', 'score': 7.07}, {'connected_gene': 'HLA-F', 'score': 6.59}, {'connected_gene': 'HCG18', 'score': 5.21}, {'connected_gene': 'HLA-W', 'score': 3.77}]
chr6 GH06I029708 29708103 29710672 1.17 [{'connected_gene': 'ZDHHC20P1', 'score': 550.77}, {'connected_gene': 'GC06M030353', 'score': 550.77}, {'connected_gene': 'HLA-F', 'score': 35.75}, {'connected_gene': 'ZFP57', 'score': 31.2}, {'connected_gene': 'HLA-J', 'score': 25.9}, {'connected_gene': 'IFITM4P', 'score': 21.54}, {'connected_gene': 'HLA-H', 'score': 12.07}, {'connected_gene': 'HCG4P5', 'score': 11.0}, {'connected_gene': 'ZNRD1ASP', 'score': 10.38}, {'connected_gene': 'OR2H1', 'score': 7.45}, {'connected_gene': 'HLA-A', 'score': 6.9}, {'connected_gene': 'HLA-K', 'score': 6.38}, {'connected_gene': 'HLA-G', 'score': 4.98}, {'connected_gene': 'MOG', 'score': 1.46}, {'connected_gene': 'GC06M029612', 'score': 0.08}]

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