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
ENST00000502448 [[47849256, 47850353], [47853111, 47853165], [47853872, 47853959], [47857075, 47857180], [47864862, 47864932], [47877143, 47877310], [47880541, 47880721]] None
ENST00000381538 [[47849256, 47850353], [47853111, 47853165], [47853872, 47853959], [47857075, 47857180], [47864862, 47864932], [47877143, 47877310], [47880541, 47880682], [47881112, 47881134], [47886362, 47886454], [47887514, 47887674], [47887895, 47888016], [47892629, 47892720], [47896196, 47896319], [47898539, 47898664], [47899983, 47900098], [47900773, 47900874], [47900975, 47901137], [47901386, 47901565], [47905209, 47905340], [47907253, 47907363], [47912840, 47913011], [47915985, 47916222], [47916566, 47916633]] [[47850179, 47850353], [47853111, 47853165], [47853872, 47853959], [47857075, 47857180], [47864862, 47864932], [47877143, 47877310], [47880541, 47880682], [47881112, 47881134], [47886362, 47886454], [47887514, 47887674], [47887895, 47888016], [47892629, 47892720], [47896196, 47896319], [47898539, 47898664], [47899983, 47900098], [47900773, 47900874], [47900975, 47901137], [47901386, 47901565], [47905209, 47905340], [47907253, 47907363], [47912840, 47913011], [47915985, 47916220]]
ENST00000464756 [[47849256, 47850353], [47853111, 47853165], [47853872, 47853959], [47857075, 47857180], [47864862, 47864932], [47877143, 47877310], [47879028, 47879208], [47880541, 47880682], [47881112, 47881134], [47886362, 47886454], [47887514, 47887674], [47887895, 47888016], [47892629, 47892720], [47896196, 47896319], [47898539, 47898664], [47899983, 47900098], [47900773, 47900874], [47900975, 47901137], [47901386, 47901565], [47905209, 47905340], [47907253, 47907363], [47912840, 47913011], [47915985, 47916222], [47916629, 47916653]] [[47879085, 47879208], [47880541, 47880682], [47881112, 47881134], [47886362, 47886454], [47887514, 47887674], [47887895, 47888016], [47892629, 47892720], [47896196, 47896319], [47898539, 47898664], [47899983, 47900098], [47900773, 47900874], [47900975, 47901137], [47901386, 47901565], [47905209, 47905340], [47907253, 47907363], [47912840, 47913011], [47915985, 47916220]]
ENST00000507489 [[47849259, 47850353], [47853111, 47853165], [47853872, 47853959], [47857075, 47857180], [47864862, 47864932], [47877143, 47877310], [47880541, 47880682], [47881112, 47881134], [47886362, 47886454], [47887514, 47887674], [47887895, 47888016], [47892629, 47892720], [47896196, 47896319], [47898539, 47898664], [47899983, 47900098], [47900773, 47900874], [47900975, 47901137], [47901386, 47901565], [47905209, 47905340], [47907253, 47907363], [47912840, 47913011], [47915985, 47916222], [47916381, 47916556]] [[47850179, 47850353], [47853111, 47853165], [47853872, 47853959], [47857075, 47857180], [47864862, 47864932], [47877143, 47877310], [47880541, 47880682], [47881112, 47881134], [47886362, 47886454], [47887514, 47887674], [47887895, 47888016], [47892629, 47892720], [47896196, 47896319], [47898539, 47898664], [47899983, 47900098], [47900773, 47900874], [47900975, 47901137], [47901386, 47901565], [47905209, 47905340], [47907253, 47907363], [47912840, 47913011], [47915985, 47916220]]
ENST00000507131 [[47850320, 47850353], [47853111, 47853165], [47853872, 47853959], [47857075, 47857180], [47864862, 47864932], [47877143, 47877310], [47880541, 47880682], [47881112, 47881134], [47886362, 47886454], [47887514, 47887674], [47887895, 47888016], [47892629, 47892720], [47896196, 47896319], [47898539, 47898664], [47899983, 47900098], [47900773, 47900874], [47900975, 47901137], [47901386, 47901565], [47905209, 47905340], [47907253, 47907363], [47912840, 47913011], [47915985, 47916222], [47916566, 47916633]] None
ENST00000508115 [[47853073, 47853165], [47853872, 47853959], [47857075, 47857180], [47864862, 47864932], [47877143, 47877310], [47879028, 47879161]] None
ENST00000511452 [[47853099, 47853165], [47853872, 47854225]] None
ENST00000329043 [[47879085, 47879208], [47880541, 47880682], [47881112, 47881134], [47886362, 47886454], [47887514, 47887674], [47887895, 47888016], [47892629, 47892720], [47896196, 47896319], [47898539, 47898664], [47899983, 47900098], [47900773, 47900874], [47900975, 47901137], [47901386, 47901565], [47905209, 47905340], [47907253, 47907363], [47912840, 47913011], [47915985, 47916222], [47916566, 47916633]] [[47879085, 47879208], [47880541, 47880682], [47881112, 47881134], [47886362, 47886454], [47887514, 47887674], [47887895, 47888016], [47892629, 47892720], [47896196, 47896319], [47898539, 47898664], [47899983, 47900098], [47900773, 47900874], [47900975, 47901137], [47901386, 47901565], [47905209, 47905340], [47907253, 47907363], [47912840, 47913011], [47915985, 47916220]]
NM_001278624 [[47849249, 47850353], [47853111, 47853165], [47853872, 47853959], [47857075, 47857180], [47864862, 47864932], [47877143, 47877310], [47880541, 47880682], [47881112, 47881134], [47886362, 47886454], [47887514, 47887674], [47887895, 47888016], [47892629, 47892720], [47896196, 47896319], [47898539, 47898664], [47899983, 47900098], [47900773, 47900874], [47900975, 47901137], [47901386, 47901565], [47905209, 47905340], [47907253, 47907363], [47912840, 47913011], [47915985, 47916222], [47916381, 47916574]] [[47850179, 47850353], [47853111, 47853165], [47853872, 47853959], [47857075, 47857180], [47864862, 47864932], [47877143, 47877310], [47880541, 47880682], [47881112, 47881134], [47886362, 47886454], [47887514, 47887674], [47887895, 47888016], [47892629, 47892720], [47896196, 47896319], [47898539, 47898664], [47899983, 47900098], [47900773, 47900874], [47900975, 47901137], [47901386, 47901565], [47905209, 47905340], [47907253, 47907363], [47912840, 47913011], [47915985, 47916220]]
NM_152995 [[47849249, 47850353], [47853111, 47853165], [47853872, 47853959], [47857075, 47857180], [47864862, 47864932], [47877143, 47877310], [47880541, 47880682], [47881112, 47881134], [47886362, 47886454], [47887514, 47887674], [47887895, 47888016], [47892629, 47892720], [47896196, 47896319], [47898539, 47898664], [47899983, 47900098], [47900773, 47900874], [47900975, 47901137], [47901386, 47901565], [47905209, 47905340], [47907253, 47907363], [47912840, 47913011], [47915985, 47916222], [47916566, 47916661]] [[47850179, 47850353], [47853111, 47853165], [47853872, 47853959], [47857075, 47857180], [47864862, 47864932], [47877143, 47877310], [47880541, 47880682], [47881112, 47881134], [47886362, 47886454], [47887514, 47887674], [47887895, 47888016], [47892629, 47892720], [47896196, 47896319], [47898539, 47898664], [47899983, 47900098], [47900773, 47900874], [47900975, 47901137], [47901386, 47901565], [47905209, 47905340], [47907253, 47907363], [47912840, 47913011], [47915985, 47916220]]
NR_103795 [[47849249, 47850353], [47853111, 47853165], [47853872, 47853959], [47857075, 47857180], [47864862, 47864932], [47877143, 47877310], [47879028, 47879208], [47880541, 47880682], [47881112, 47881134], [47886362, 47886454], [47887514, 47887674], [47887895, 47888016], [47892629, 47892720], [47896196, 47896319], [47898539, 47898664], [47899983, 47900098], [47900773, 47900874], [47900975, 47901137], [47901386, 47901565], [47905209, 47905340], [47907253, 47907363], [47912840, 47913011], [47915985, 47916222], [47916629, 47916684]] None
NM_001278623 [[47849249, 47850353], [47853111, 47853165], [47853872, 47853959], [47857075, 47857180], [47864862, 47864932], [47877143, 47877310], [47880541, 47880682], [47881112, 47881134], [47886362, 47886454], [47887514, 47887674], [47887895, 47888016], [47892629, 47892720], [47896196, 47896319], [47898539, 47898664], [47899983, 47900098], [47900773, 47900874], [47900975, 47901137], [47901386, 47901565], [47905209, 47905340], [47907253, 47907363], [47912840, 47913011], [47915985, 47916222], [47916629, 47916684]] [[47850179, 47850353], [47853111, 47853165], [47853872, 47853959], [47857075, 47857180], [47864862, 47864932], [47877143, 47877310], [47880541, 47880682], [47881112, 47881134], [47886362, 47886454], [47887514, 47887674], [47887895, 47888016], [47892629, 47892720], [47896196, 47896319], [47898539, 47898664], [47899983, 47900098], [47900773, 47900874], [47900975, 47901137], [47901386, 47901565], [47905209, 47905340], [47907253, 47907363], [47912840, 47913011], [47915985, 47916220]]
Promoter
Chrom Start End Description
chr4 47916061 47916098 CAGE_peak_8_at_NFXL1_5end
chr4 47916225 47916234 CAGE_peak_5_at_NFXL1_5end
chr4 47916504 47916515 CAGE_peak_6_at_NFXL1_5end
chr4 47916543 47916580 CAGE_peak_2_at_NFXL1_5end
chr4 47916588 47916607 CAGE_peak_1_at_NFXL1_5end
chr4 47916613 47916640 CAGE_peak_3_at_NFXL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I048172 48172482 48174861 1.27 [{'connected_gene': 'TXK', 'score': 11.41}, {'connected_gene': 'TEC', 'score': 9.01}, {'connected_gene': 'CNGA1', 'score': 8.41}, {'connected_gene': 'NIPAL1', 'score': 6.26}, {'connected_gene': 'ENSG00000248254', 'score': 5.43}, {'connected_gene': 'NFXL1', 'score': 5.05}, {'connected_gene': 'PIR56753', 'score': 0.37}, {'connected_gene': 'ENSG00000202014', 'score': 0.34}]
chr4 GH04I048725 48725588 48727660 1.28 [{'connected_gene': 'OCIAD1', 'score': 23.02}, {'connected_gene': 'NFXL1', 'score': 4.99}, {'connected_gene': 'SLC10A4', 'score': 4.94}, {'connected_gene': 'FRYL', 'score': 0.23}, {'connected_gene': 'GC04P048658', 'score': 0.2}]
chr4 GH04I048908 48908763 48910828 0.99 [{'connected_gene': 'OCIAD1', 'score': 4.02}, {'connected_gene': 'NFXL1', 'score': 3.98}, {'connected_gene': 'OCIAD2', 'score': 0.77}, {'connected_gene': 'RNU6-158P', 'score': 0.34}, {'connected_gene': 'GC04M048853', 'score': 0.26}]
chr4 GH04I048830 48830223 48833307 2.05 [{'connected_gene': 'OCIAD1', 'score': 576.05}, {'connected_gene': 'OCIAD2', 'score': 10.6}, {'connected_gene': 'OCIAD1-AS1', 'score': 10.52}, {'connected_gene': 'NFXL1', 'score': 10.23}]
chr4 GH04I048629 48629086 48632096 0.74 [{'connected_gene': 'OCIAD1', 'score': 12.73}, {'connected_gene': 'OCIAD1-AS1', 'score': 10.23}, {'connected_gene': 'SLC10A4', 'score': 5.33}, {'connected_gene': 'NFXL1', 'score': 4.9}, {'connected_gene': 'GC04P048658', 'score': 0.31}, {'connected_gene': 'RNU5E-3P', 'score': 0.22}, {'connected_gene': 'FRYL', 'score': 0.11}]
chr4 GH04I048775 48775018 48781849 2.44 [{'connected_gene': 'FRYL', 'score': 550.77}, {'connected_gene': 'OCIAD1', 'score': 24.27}, {'connected_gene': 'SLAIN2', 'score': 23.64}, {'connected_gene': 'NFXL1', 'score': 16.75}, {'connected_gene': 'TEC', 'score': 10.76}, {'connected_gene': 'SLC10A4', 'score': 6.27}, {'connected_gene': 'GC04P048658', 'score': 0.13}]
chr4 GH04I048014 48014829 48023483 2.33 [{'connected_gene': 'NIPAL1', 'score': 561.28}, {'connected_gene': 'CNGA1', 'score': 45.24}, {'connected_gene': 'NFXL1', 'score': 23.66}, {'connected_gene': 'RNU6-838P', 'score': 10.41}, {'connected_gene': 'GC04P048104', 'score': 0.17}]
chr4 GH04I047923 47923384 47923533 0.38 [{'connected_gene': 'NIPAL1', 'score': 0.44}, {'connected_gene': 'LOC101927157', 'score': 0.44}, {'connected_gene': 'NFXL1', 'score': 0.44}, {'connected_gene': 'PIR42399', 'score': 0.17}]
chr4 GH04I047913 47913105 47915401 2.02 [{'connected_gene': 'NFXL1', 'score': 605.73}, {'connected_gene': 'NIPAL1', 'score': 550.77}, {'connected_gene': 'LOC101927157', 'score': 550.77}, {'connected_gene': 'CNGA1', 'score': 16.19}]
chr4 GH04I047855 47855060 47857338 0.31 [{'connected_gene': 'NFXL1', 'score': 55.92}, {'connected_gene': 'CNGA1', 'score': 23.88}, {'connected_gene': 'ENSG00000259959', 'score': 5.38}, {'connected_gene': 'LOC101927179', 'score': 0.34}, {'connected_gene': 'NIPAL1', 'score': 0.22}]
chr4 GH04I047852 47852260 47852996 0.2 [{'connected_gene': 'NFXL1', 'score': 52.19}, {'connected_gene': 'CNGA1', 'score': 17.59}, {'connected_gene': 'ENSG00000259959', 'score': 0.44}, {'connected_gene': 'LOC101927179', 'score': 0.34}, {'connected_gene': 'NIPAL1', 'score': 0.21}]
chr4 GH04I047861 47861636 47864074 0.31 [{'connected_gene': 'NFXL1', 'score': 54.41}, {'connected_gene': 'ENSG00000259959', 'score': 5.35}, {'connected_gene': 'LOC101927179', 'score': 0.29}, {'connected_gene': 'NIPAL1', 'score': 0.23}]
chr4 GH04I048046 48046560 48048653 1.01 [{'connected_gene': 'CNGA1', 'score': 30.34}, {'connected_gene': 'NIPAL1', 'score': 12.32}, {'connected_gene': 'RNU6-838P', 'score': 10.45}, {'connected_gene': 'NFXL1', 'score': 8.61}, {'connected_gene': 'ENSG00000259959', 'score': 4.16}, {'connected_gene': 'GC04P048104', 'score': 0.22}]
chr4 GH04I047981 47981615 47981674 0.5 [{'connected_gene': 'CNGA1', 'score': 550.28}, {'connected_gene': 'PIR42399', 'score': 0.31}, {'connected_gene': 'NIPAL1', 'score': 0.2}, {'connected_gene': 'LOC101927157', 'score': 0.2}, {'connected_gene': 'NFXL1', 'score': 0.2}]
chr4 GH04I047926 47926284 47927391 0.94 [{'connected_gene': 'CNGA1', 'score': 26.45}, {'connected_gene': 'NFXL1', 'score': 20.54}, {'connected_gene': 'SLAIN2', 'score': 5.24}, {'connected_gene': 'NIPAL1', 'score': 0.39}, {'connected_gene': 'LOC101927157', 'score': 0.39}, {'connected_gene': 'PIR42399', 'score': 0.18}]
chr4 GH04I047911 47911401 47912600 0.31 [{'connected_gene': 'CNGA1', 'score': 23.8}, {'connected_gene': 'NFXL1', 'score': 21.4}, {'connected_gene': 'NIPAL1', 'score': 0.77}, {'connected_gene': 'ENSG00000259959', 'score': 0.2}]
chr4 GH04I047838 47838984 47839610 0.8 [{'connected_gene': 'CORIN', 'score': 550.77}, {'connected_gene': 'GC04P047839', 'score': 550.77}, {'connected_gene': 'NFXL1', 'score': 54.42}, {'connected_gene': 'CNGA1', 'score': 23.95}, {'connected_gene': 'LOC101927179', 'score': 0.44}]
chr4 GH04I047836 47836400 47838001 1.33 [{'connected_gene': 'CORIN', 'score': 550.77}, {'connected_gene': 'NFXL1', 'score': 55.06}, {'connected_gene': 'CNGA1', 'score': 24.6}, {'connected_gene': 'LOC101927179', 'score': 0.44}]
chr4 GH04I048024 48024572 48025640 0.2 [{'connected_gene': 'RNU6-838P', 'score': 10.42}, {'connected_gene': 'NIPAL1', 'score': 9.18}, {'connected_gene': 'CNGA1', 'score': 6.72}, {'connected_gene': 'NFXL1', 'score': 6.51}, {'connected_gene': 'GC04P048104', 'score': 0.18}]
chr4 GH04I048600 48600905 48605478 0.62 [{'connected_gene': 'RNU5E-3P', 'score': 12.89}, {'connected_gene': 'FRYL', 'score': 12.67}, {'connected_gene': 'OCIAD1', 'score': 12.56}, {'connected_gene': 'OCIAD1-AS1', 'score': 10.27}, {'connected_gene': 'SLC10A4', 'score': 6.77}, {'connected_gene': 'NFXL1', 'score': 4.91}, {'connected_gene': 'GC04P048658', 'score': 0.22}]
chr4 GH04I048209 48209804 48213451 1.32 [{'connected_gene': 'TEC', 'score': 12.15}, {'connected_gene': 'SLAIN2', 'score': 6.34}, {'connected_gene': 'NFXL1', 'score': 4.71}, {'connected_gene': 'PIR56443', 'score': 0.77}, {'connected_gene': 'GC04M048219', 'score': 0.44}]
chr4 GH04I048329 48329276 48333711 1.03 [{'connected_gene': 'TEC', 'score': 14.57}, {'connected_gene': 'NFXL1', 'score': 11.99}, {'connected_gene': 'TXK', 'score': 10.67}, {'connected_gene': 'RNU6-838P', 'score': 9.83}, {'connected_gene': 'SLC10A4', 'score': 6.04}, {'connected_gene': 'SLAIN2', 'score': 4.78}, {'connected_gene': 'GC04M048291', 'score': 0.31}]
chr4 GH04I048193 48193468 48193879 0.68 [{'connected_gene': 'TEC', 'score': 5.97}, {'connected_gene': 'NFXL1', 'score': 4.25}, {'connected_gene': 'SLAIN2', 'score': 1.28}, {'connected_gene': 'PIR56753', 'score': 0.77}, {'connected_gene': 'PIR56443', 'score': 0.39}]
chr4 GH04I047824 47824449 47826035 0.78 [{'connected_gene': 'GC04P047826', 'score': 550.77}, {'connected_gene': 'NFXL1', 'score': 36.19}, {'connected_gene': 'NIPAL1', 'score': 10.86}, {'connected_gene': 'CNGA1', 'score': 5.82}, {'connected_gene': 'CORIN', 'score': 0.39}, {'connected_gene': 'GC04M047659', 'score': 0.16}]
chr4 GH04I047974 47974601 47975000 0.2 [{'connected_gene': 'PIR42399', 'score': 0.28}, {'connected_gene': 'CNGA1', 'score': 0.26}, {'connected_gene': 'NIPAL1', 'score': 0.21}, {'connected_gene': 'LOC101927157', 'score': 0.21}, {'connected_gene': 'NFXL1', 'score': 0.21}]

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