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
ENST00000458280 [[57226327, 57226470], [57227128, 57227143], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57244346, 57244480]] [[57242560, 57242653], [57243042, 57243183], [57244346, 57244480]]
ENST00000355957 [[57226327, 57227143], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57254582]] [[57227062, 57227143], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57251347]]
ENST00000361770 [[57226327, 57227143], [57242345, 57242357], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57254582]] [[57227062, 57227143], [57242345, 57242357], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57251347]]
ENST00000312283 [[57226328, 57226470], [57227128, 57227143], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246333]] [[57242560, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246333]]
ENST00000412911 [[57226334, 57226490], [57227128, 57227143], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57244346, 57244474]] [[57242560, 57242653], [57243042, 57243183], [57244346, 57244474]]
ENST00000460655 [[57226338, 57226587], [57227128, 57227143], [57234678, 57234690], [57242545, 57242664], [57243042, 57243183], [57245567, 57245603]] [[57242560, 57242664], [57243042, 57243079]]
ENST00000359617 [[57226338, 57226490], [57227128, 57227194], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57254556]] [[57242560, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57251347]]
ENST00000371141 [[57226338, 57227194], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57254582]] [[57227062, 57227194], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57251347]]
ENST00000476384 [[57226358, 57226490], [57227128, 57227143], [57242256, 57242374], [57242545, 57242653], [57243042, 57243183], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57251347]] [[57242560, 57242653], [57243042, 57243183], [57245567, 57245573]]
ENST00000483434 [[57226359, 57226490], [57227128, 57227143], [57242545, 57242653], [57243042, 57243183], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57251404]] [[57242560, 57242653], [57243042, 57243183], [57245567, 57245573]]
ENST00000496117 [[57226368, 57226462], [57227128, 57227143], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57245567, 57245659], [57246209, 57246275]] None
ENST00000490700 [[57226371, 57226490], [57227128, 57227143], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57251452]] None
ENST00000371132 [[57226660, 57227143], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57254582]] [[57227062, 57227143], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57251347]]
ENST00000496003 [[57226801, 57227194], [57242545, 57242653], [57243042, 57243183], [57245567, 57245659], [57248686, 57248767]] None
ENST00000467096 [[57226921, 57227143], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57251384]] [[57227062, 57227143], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57245567, 57245573]]
ENST00000358029 [[57226934, 57227194], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57254582]] [[57227062, 57227194], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57251347]]
ENST00000464640 [[57227062, 57227143], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246219, 57246353], [57248686, 57248767]] [[57227062, 57227143], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246219, 57246231]]
ENST00000361830 [[57227062, 57227194], [57227351, 57227363], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57254582]] [[57227062, 57227194], [57227351, 57227363], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57251347]]
ENST00000493301 [[57227081, 57227194], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57245567, 57245659], [57246209, 57246340]] [[57227081, 57227194], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57245567, 57245573]]
ENST00000468590 [[57227152, 57227194], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57244357, 57244509], [57245567, 57245659], [57246209, 57246353]] None
ENST00000438253 [[57242575, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57248686, 57248767], [57251242, 57251542]] [[57242575, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57248686, 57248767], [57251242, 57251347]]
NR_037942 [[57226308, 57226470], [57227128, 57227194], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57254582]] None
NR_037943 [[57226308, 57226490], [57227128, 57227143], [57242545, 57242653], [57243042, 57243183], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57254582]] None
NM_001204868 [[57226308, 57226490], [57227128, 57227194], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57254582]] [[57242560, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57251347]]
NM_003763 [[57226308, 57227143], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57254582]] [[57227062, 57227143], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57251347]]
NR_037941 [[57226308, 57227143], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57254582]] None
NM_001134773 [[57226308, 57227143], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57254582]] [[57227062, 57227143], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57251347]]
NM_001134772 [[57226308, 57227194], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57254582]] [[57227062, 57227194], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57251347]]
NM_001001433 [[57226308, 57227194], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57254582]] [[57227062, 57227194], [57234678, 57234690], [57242545, 57242653], [57243042, 57243183], [57244346, 57244509], [57245567, 57245659], [57246209, 57246353], [57248686, 57248767], [57251242, 57251347]]
Promoter
Chrom Start End Description
chr20 57226284 57226345 CAGE_peak_1_at_STX16-NPEPL1_5end,CAGE_peak_1_at_STX16_5end
chr20 57226841 57226899 CAGE_peak_2_at_STX16_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I057927 57927510 57928994 1.03 [{'connected_gene': 'STX16', 'score': 14.81}, {'connected_gene': 'RAE1', 'score': 12.77}, {'connected_gene': 'PPP4R1L', 'score': 12.71}, {'connected_gene': 'LOC101927932', 'score': 10.58}, {'connected_gene': 'ENSG00000254419', 'score': 9.76}, {'connected_gene': 'ENSG00000203971', 'score': 0.29}, {'connected_gene': 'MIR4532', 'score': 0.29}]
chr20 GH20I057691 57691639 57700490 1.67 [{'connected_gene': 'STX16', 'score': 11.79}, {'connected_gene': 'PMEPA1', 'score': 9.05}, {'connected_gene': 'NKILA', 'score': 0.39}, {'connected_gene': 'GC20M057649', 'score': 0.25}]
chr20 GH20I058619 58619965 58620214 0.63 [{'connected_gene': 'STX16', 'score': 14.21}, {'connected_gene': 'NELFCD', 'score': 12.2}, {'connected_gene': 'LOC101927932', 'score': 10.57}, {'connected_gene': 'PIR40957', 'score': 0.39}, {'connected_gene': 'ENSG00000254620', 'score': 0.31}]
chr20 GH20I057855 57855211 57856396 0.38 [{'connected_gene': 'STX16', 'score': 11.79}, {'connected_gene': 'MIR4532', 'score': 0.28}, {'connected_gene': 'LOC105372692', 'score': 0.12}]
chr20 GH20I058649 58649194 58654945 2.37 [{'connected_gene': 'STX16', 'score': 589.23}, {'connected_gene': 'GC20M058648', 'score': 550.77}, {'connected_gene': 'STX16-NPEPL1', 'score': 550.77}, {'connected_gene': 'LOC101927932', 'score': 81.74}, {'connected_gene': 'NELFCD', 'score': 46.92}, {'connected_gene': 'PPP4R1L', 'score': 40.23}, {'connected_gene': 'ENSG00000254419', 'score': 33.22}, {'connected_gene': 'NPEPL1', 'score': 30.24}, {'connected_gene': 'ENSG00000270951', 'score': 10.1}, {'connected_gene': 'PIR50186', 'score': 0.31}]
chr20 GH20I058665 58665725 58665922 0.58 [{'connected_gene': 'NPEPL1', 'score': 21.34}, {'connected_gene': 'PIR50186', 'score': 0.39}, {'connected_gene': 'STX16', 'score': 0.39}, {'connected_gene': 'STX16-NPEPL1', 'score': 0.39}]
chr20 GH20I058659 58659602 58660199 0.89 [{'connected_gene': 'NPEPL1', 'score': 12.14}, {'connected_gene': 'STX16', 'score': 0.44}, {'connected_gene': 'STX16-NPEPL1', 'score': 0.44}, {'connected_gene': 'PIR50186', 'score': 0.37}]
chr20 GH20I058660 58660898 58662437 0.8 [{'connected_gene': 'NPEPL1', 'score': 22.04}, {'connected_gene': 'LINC01711', 'score': 6.16}, {'connected_gene': 'STX16', 'score': 2.82}, {'connected_gene': 'RAB22A', 'score': 1.39}, {'connected_gene': 'STX16-NPEPL1', 'score': 0.39}, {'connected_gene': 'PIR50186', 'score': 0.37}]
chr20 GH20I058668 58668843 58671420 0.8 [{'connected_gene': 'NPEPL1', 'score': 11.33}, {'connected_gene': 'LINC01711', 'score': 6.12}, {'connected_gene': 'ENSG00000254419', 'score': 4.93}, {'connected_gene': 'PIR50186', 'score': 0.44}, {'connected_gene': 'STX16', 'score': 0.37}, {'connected_gene': 'STX16-NPEPL1', 'score': 0.37}]
chr20 GH20I058655 58655401 58658142 0.89 [{'connected_gene': 'NPEPL1', 'score': 12.25}, {'connected_gene': 'LINC01711', 'score': 6.2}, {'connected_gene': 'STX16', 'score': 0.44}, {'connected_gene': 'STX16-NPEPL1', 'score': 0.44}, {'connected_gene': 'PIR50186', 'score': 0.34}]
chr20 GH20I058688 58688402 58694512 2.22 [{'connected_gene': 'NPEPL1', 'score': 567.17}, {'connected_gene': 'NELFCD', 'score': 17.06}, {'connected_gene': 'LOC101927932', 'score': 13.64}, {'connected_gene': 'PPP4R1L', 'score': 12.71}, {'connected_gene': 'STX16', 'score': 11.21}, {'connected_gene': 'ENSG00000254419', 'score': 10.1}, {'connected_gene': 'STX16-NPEPL1', 'score': 0.26}]
chr20 GH20I058667 58667456 58668419 0.58 [{'connected_gene': 'LINC01711', 'score': 6.14}, {'connected_gene': 'PIR50186', 'score': 0.39}, {'connected_gene': 'STX16', 'score': 0.37}, {'connected_gene': 'STX16-NPEPL1', 'score': 0.37}]
chr20 GH20I058305 58305983 58311373 2.54 [{'connected_gene': 'RAB22A', 'score': 557.17}, {'connected_gene': 'PPP4R1L', 'score': 555.64}, {'connected_gene': 'NELFCD', 'score': 22.06}, {'connected_gene': 'RAE1', 'score': 20.65}, {'connected_gene': 'LOC101927932', 'score': 14.89}, {'connected_gene': 'STX16', 'score': 3.42}, {'connected_gene': 'ANKRD60', 'score': 0.18}]
chr20 GH20I058980 58980666 58983188 2.29 [{'connected_gene': 'NELFCD', 'score': 590.84}, {'connected_gene': 'PPP4R1L', 'score': 12.82}, {'connected_gene': 'STX16', 'score': 12.27}, {'connected_gene': 'LOC101927932', 'score': 10.99}, {'connected_gene': 'ENSG00000254419', 'score': 10.48}, {'connected_gene': 'ZNF831', 'score': 2.35}, {'connected_gene': 'GC20M058985', 'score': 0.44}]
chr20 GH20I058622 58622375 58625237 1.7 [{'connected_gene': 'NELFCD', 'score': 31.49}, {'connected_gene': 'LOC101927932', 'score': 21.05}, {'connected_gene': 'PPP4R1L', 'score': 20.94}, {'connected_gene': 'STX16', 'score': 15.1}, {'connected_gene': 'ENSG00000254419', 'score': 9.9}, {'connected_gene': 'PIR40957', 'score': 0.44}, {'connected_gene': 'ENSG00000254620', 'score': 0.31}]
chr20 GH20I059030 59030918 59033457 2.09 [{'connected_gene': 'ATP5F1E', 'score': 550.77}, {'connected_gene': 'NELFCD', 'score': 36.49}, {'connected_gene': 'LOC101927932', 'score': 24.01}, {'connected_gene': 'PPP4R1L', 'score': 12.81}, {'connected_gene': 'STX16', 'score': 11.8}, {'connected_gene': 'ENSG00000254419', 'score': 10.48}, {'connected_gene': 'PRELID3B', 'score': 10.43}, {'connected_gene': 'SLMO2-ATP5E', 'score': 0.39}, {'connected_gene': 'TUBB1', 'score': 0.39}]
chr20 GH20I058442 58442958 58443423 0.48 [{'connected_gene': 'GNAS-AS1', 'score': 4.61}, {'connected_gene': 'STX16', 'score': 1.35}, {'connected_gene': 'VAPB', 'score': 0.23}, {'connected_gene': 'APCDD1L-AS1', 'score': 0.19}]
chr20 GH20I059102 59102201 59103800 0.69 [{'connected_gene': 'ZNF831', 'score': 11.17}, {'connected_gene': 'STX16', 'score': 2.5}, {'connected_gene': 'MRPS16P2', 'score': 0.39}, {'connected_gene': 'PRELID3B', 'score': 0.21}]
chr20 GH20I059120 59120092 59124933 1.37 [{'connected_gene': 'ZNF831', 'score': 553.45}, {'connected_gene': 'STX16', 'score': 2.41}, {'connected_gene': 'MRPS16P2', 'score': 0.44}]
chr20 GH20I059145 59145715 59151501 1.34 [{'connected_gene': 'ZNF831', 'score': 15.52}, {'connected_gene': 'PHACTR3', 'score': 1.42}, {'connected_gene': 'STX16', 'score': 1.42}, {'connected_gene': 'EDN3', 'score': 0.1}]
chr20 GH20I058248 58248145 58248214 0.75 [{'connected_gene': 'LOC101927932', 'score': 58.79}, {'connected_gene': 'NELFCD', 'score': 42.86}, {'connected_gene': 'STX16', 'score': 21.09}, {'connected_gene': 'PPP4R1L', 'score': 14.03}, {'connected_gene': 'ENSG00000254419', 'score': 12.6}, {'connected_gene': 'ENSG00000270951', 'score': 11.01}, {'connected_gene': 'NPEPL1', 'score': 10.04}, {'connected_gene': 'ANKRD60', 'score': 0.37}]
chr20 GH20I058671 58671521 58672157 0.38 [{'connected_gene': 'PIR50186', 'score': 0.44}, {'connected_gene': 'STX16', 'score': 0.34}, {'connected_gene': 'STX16-NPEPL1', 'score': 0.34}]
chr20 GH20I058677 58677945 58678094 0.2 [{'connected_gene': 'PIR50186', 'score': 550.77}, {'connected_gene': 'STX16', 'score': 11.38}, {'connected_gene': 'STX16-NPEPL1', 'score': 11.38}]

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