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
ENST00000458311 [[49168186, 49168497], [49170190, 49170283], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197509], [49204700, 49204794], [49207220, 49207648]] None
ENST00000256999 [[49168186, 49168497], [49170190, 49170283], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197509], [49204700, 49204794], [49207220, 49207407], [49208195, 49208321], [49214344, 49214446], [49221806, 49221993], [49227618, 49227724], [49229843, 49230222]] [[49168307, 49168497], [49170190, 49170283], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197509], [49204700, 49204794], [49207220, 49207407], [49208195, 49208321], [49214344, 49214446], [49221806, 49221993], [49227618, 49227724], [49229843, 49229961]]
ENST00000356696 [[49168187, 49168497], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197509], [49204700, 49204794], [49207220, 49207407], [49208195, 49208321], [49214344, 49214446], [49221806, 49221993], [49227618, 49227724], [49229843, 49230084]] [[49168307, 49168497], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197509], [49204700, 49204794], [49207220, 49207407], [49208195, 49208321], [49214344, 49214446], [49221806, 49221993], [49227618, 49227724], [49229843, 49229961]]
ENST00000343844 [[49168187, 49168497], [49170190, 49170283], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197509], [49204700, 49204794], [49208195, 49208321], [49214344, 49214446], [49227618, 49227724], [49229843, 49230154]] [[49168307, 49168497], [49170190, 49170283], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197505]]
ENST00000525826 [[49168187, 49168497], [49170190, 49170283], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197509], [49204700, 49204794], [49208195, 49208321], [49214344, 49214446], [49227618, 49227724], [49229843, 49230154]] [[49214445, 49214446], [49227618, 49227724], [49229843, 49229961]]
ENST00000340334 [[49168187, 49168497], [49170190, 49170283], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197509], [49204700, 49204794], [49207220, 49207407], [49208195, 49208321], [49214344, 49214446], [49221806, 49221993], [49227618, 49227724], [49228329, 49228426], [49229843, 49230188]] [[49168307, 49168497], [49170190, 49170283], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197509], [49204700, 49204794], [49207220, 49207407], [49208195, 49208321], [49214344, 49214446], [49221806, 49221993], [49227618, 49227724], [49228329, 49228402]]
ENST00000533034 [[49168302, 49168497], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197509], [49204700, 49204794], [49207220, 49207407], [49208195, 49208321], [49214344, 49214446], [49221806, 49221993], [49227618, 49227724], [49228329, 49228426], [49229843, 49229924]] [[49168307, 49168497], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197509], [49204700, 49204794], [49207220, 49207407], [49208195, 49208321], [49214344, 49214446], [49221806, 49221993], [49227618, 49227724], [49228329, 49228402]]
ENST00000532018 [[49175583, 49176044], [49178268, 49178305]] None
ENST00000525629 [[49184354, 49184442], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197512]] None
ENST00000526226 [[49207145, 49207407], [49208195, 49208320]] None
ENST00000529646 [[49214305, 49214446], [49221806, 49221993], [49227618, 49227724], [49228329, 49228426], [49229843, 49229879]] None
ENST00000533510 [[49214343, 49214446], [49221806, 49221993], [49227618, 49227724], [49227831, 49227884], [49229843, 49230145]] [[49227861, 49227884], [49229843, 49229961]]
ENST00000529117 [[49221852, 49221993], [49227618, 49227724], [49229419, 49229712]] [[49221852, 49221993], [49227618, 49227671]]
ENST00000529648 [[49221924, 49221993], [49227618, 49227724], [49229315, 49229453], [49229843, 49230190]] [[49229424, 49229453], [49229843, 49229961]]
NM_001193471 [[49168186, 49168497], [49170190, 49170283], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197509], [49204700, 49204794], [49207220, 49207407], [49208195, 49208321], [49214344, 49214446], [49221806, 49221993], [49227618, 49227724], [49228329, 49228426], [49229843, 49230222]] [[49168307, 49168497], [49170190, 49170283], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197509], [49204700, 49204794], [49207220, 49207407], [49208195, 49208321], [49214344, 49214446], [49221806, 49221993], [49227618, 49227724], [49228329, 49228402]]
NM_001193472 [[49168186, 49168497], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197509], [49204700, 49204794], [49207220, 49207407], [49208195, 49208321], [49214344, 49214446], [49221806, 49221993], [49227618, 49227724], [49228329, 49228426], [49229843, 49230222]] [[49168307, 49168497], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197509], [49204700, 49204794], [49207220, 49207407], [49208195, 49208321], [49214344, 49214446], [49221806, 49221993], [49227618, 49227724], [49228329, 49228402]]
NM_004476 [[49168186, 49168497], [49170190, 49170283], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197509], [49204700, 49204794], [49207220, 49207407], [49208195, 49208321], [49214344, 49214446], [49221806, 49221993], [49227618, 49227724], [49229843, 49230222]] [[49168307, 49168497], [49170190, 49170283], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197509], [49204700, 49204794], [49207220, 49207407], [49208195, 49208321], [49214344, 49214446], [49221806, 49221993], [49227618, 49227724], [49229843, 49229961]]
NM_001014986 [[49168186, 49168497], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197509], [49204700, 49204794], [49207220, 49207407], [49208195, 49208321], [49214344, 49214446], [49221806, 49221993], [49227618, 49227724], [49229843, 49230222]] [[49168307, 49168497], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197509], [49204700, 49204794], [49207220, 49207407], [49208195, 49208321], [49214344, 49214446], [49221806, 49221993], [49227618, 49227724], [49229843, 49229961]]
NM_001193473 [[49168186, 49168497], [49170190, 49170283], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197509], [49204700, 49204794], [49208195, 49208321], [49214344, 49214446], [49227618, 49227724], [49229843, 49230222]] [[49168307, 49168497], [49170190, 49170283], [49175397, 49175479], [49175779, 49176044], [49178268, 49178359], [49179503, 49179595], [49186256, 49186324], [49190746, 49190810], [49192746, 49192829], [49194908, 49195028], [49196443, 49196529], [49197410, 49197505]]
Promoter
Chrom Start End Description
chr11 49229943 49229954 CAGE_peak_8_at_FOLH1B_5end,CAGE_peak_8_at_FOLH1_5end
chr11 49230009 49230025 CAGE_peak_4_at_FOLH1B_5end,CAGE_peak_4_at_FOLH1_5end
chr11 49230032 49230058 CAGE_peak_3_at_FOLH1B_5end,CAGE_peak_3_at_FOLH1_5end
chr11 49230087 49230098 CAGE_peak_7_at_FOLH1B_5end,CAGE_peak_7_at_FOLH1_5end
chr11 49230104 49230123 CAGE_peak_2_at_FOLH1B_5end,CAGE_peak_2_at_FOLH1_5end
chr11 49230144 49230164 CAGE_peak_1_at_FOLH1B_5end,CAGE_peak_1_at_FOLH1_5end
chr11 49230172 49230183 CAGE_peak_6_at_FOLH1B_5end,CAGE_peak_6_at_FOLH1_5end
chr11 49230184 49230198 CAGE_peak_5_at_FOLH1B_5end,CAGE_peak_5_at_FOLH1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I049851 49851994 49852095 0.24 [{'connected_gene': 'LOC441601', 'score': 7.16}, {'connected_gene': 'FOLH1', 'score': 5.52}, {'connected_gene': 'LOC100652976', 'score': 0.77}, {'connected_gene': 'LOC387770', 'score': 0.44}, {'connected_gene': 'ENSG00000255550', 'score': 0.44}]
chr11 GH11I049212 49212094 49215365 0.2 [{'connected_gene': 'FOLH1', 'score': 22.46}, {'connected_gene': 'LOC729960', 'score': 0.16}]
chr11 GH11I049326 49326241 49327169 0.2 [{'connected_gene': 'FOLH1', 'score': 7.56}, {'connected_gene': 'LOC729960', 'score': 0.34}, {'connected_gene': 'GC11P049348', 'score': 0.34}]
chr11 GH11I049222 49222715 49224441 0.2 [{'connected_gene': 'FOLH1', 'score': 22.07}, {'connected_gene': 'LOC729960', 'score': 0.18}]
chr11 GH11I049297 49297947 49298479 0.31 [{'connected_gene': 'FOLH1', 'score': 9.04}, {'connected_gene': 'LOC729960', 'score': 0.44}]
chr11 GH11I049233 49233011 49234398 0.54 [{'connected_gene': 'FOLH1', 'score': 16.14}, {'connected_gene': 'LOC440040', 'score': 4.5}, {'connected_gene': 'LOC729960', 'score': 0.19}]
chr11 GH11I049226 49226957 49232125 0.49 [{'connected_gene': 'FOLH1', 'score': 22.04}, {'connected_gene': 'LOC440040', 'score': 4.48}, {'connected_gene': 'LOC729960', 'score': 0.18}]
chr11 GH11I049166 49166902 49177599 0.52 [{'connected_gene': 'FOLH1', 'score': 36.49}, {'connected_gene': 'GTF2IP11', 'score': 3.61}, {'connected_gene': 'UBTFL9', 'score': 0.28}]
chr11 GH11I049183 49183101 49194725 0.52 [{'connected_gene': 'FOLH1', 'score': 25.65}, {'connected_gene': 'UBTFL9', 'score': 0.23}]
chr11 GH11I049206 49206789 49209273 1.74 [{'connected_gene': 'FOLH1', 'score': 574.4}, {'connected_gene': 'UBTFL9', 'score': 0.19}]
chr11 GH11I049178 49178069 49178218 0.46 [{'connected_gene': 'FOLH1', 'score': 23.9}, {'connected_gene': 'UBTFL9', 'score': 0.26}]
chr11 GH11I049163 49163946 49166188 0.2 [{'connected_gene': 'FOLH1', 'score': 21.42}, {'connected_gene': 'UBTFL9', 'score': 0.29}]
chr11 GH11I049201 49201370 49205140 0.31 [{'connected_gene': 'FOLH1', 'score': 22.03}, {'connected_gene': 'UBTFL9', 'score': 0.2}]
chr11 GH11I049194 49194910 49198287 0.31 [{'connected_gene': 'FOLH1', 'score': 24.87}, {'connected_gene': 'UBTFL9', 'score': 0.21}]

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