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
ENST00000597424 [[21264964, 21265154], [21299634, 21300018]] [[21299932, 21300018]]
ENST00000596053 [[21264979, 21265154], [21266783, 21266875], [21280990, 21281117], [21281620, 21281716], [21307763, 21308073]] [[21281074, 21281117], [21281620, 21281716], [21307763, 21307957]]
ENST00000597086 [[21265004, 21265154], [21280990, 21281117], [21299634, 21300003]] [[21299932, 21300003]]
ENST00000596143 [[21265005, 21265154], [21266783, 21266875], [21280990, 21281117], [21281617, 21281716], [21299612, 21305954]] [[21281074, 21281117], [21281617, 21281716], [21299612, 21301135]]
ENST00000596367 [[21265008, 21265154], [21280990, 21281117], [21281620, 21281716], [21299612, 21299887]] [[21265151, 21265154], [21280990, 21281117], [21281620, 21281716], [21299612, 21299887]]
ENST00000601416 [[21265008, 21265154], [21266783, 21266875], [21280990, 21281117], [21281620, 21281716], [21292428, 21292450], [21299612, 21301688]] [[21281074, 21281117], [21281620, 21281716], [21292428, 21292450], [21299612, 21299706]]
ENST00000600770 [[21265008, 21265154], [21266783, 21266875], [21280990, 21281117], [21281620, 21281716], [21292428, 21292450], [21299612, 21301688], [21307763, 21307897]] [[21281074, 21281117], [21281620, 21281716], [21292428, 21292450], [21299612, 21299706]]
ENST00000600435 [[21265014, 21265154], [21266783, 21266875], [21280990, 21281117], [21281617, 21281716], [21299612, 21301688], [21307763, 21307897]] [[21281074, 21281117], [21281617, 21281716], [21299612, 21301135]]
ENST00000291770 [[21265055, 21265154], [21266783, 21266875], [21280990, 21281117], [21281617, 21281716], [21299634, 21301280]] [[21281074, 21281117], [21281617, 21281716], [21299634, 21299660]]
ENST00000600535 [[21266825, 21266875], [21273716, 21274564]] None
NR_117088 [[21264952, 21265154], [21266783, 21266875], [21280990, 21281117], [21281620, 21281716], [21307763, 21307897]] None
NR_117086 [[21264952, 21265154], [21266783, 21266875], [21280990, 21281117], [21281620, 21281716], [21292428, 21292450], [21299612, 21301688], [21307763, 21307897]] None
NR_117087 [[21264952, 21265154], [21266783, 21266875], [21280990, 21281117], [21281617, 21281716], [21299612, 21301688], [21307763, 21307897]] None
NM_182515 [[21264952, 21265154], [21266783, 21266875], [21280990, 21281117], [21281617, 21281716], [21299612, 21307897]] [[21281074, 21281117], [21281617, 21281716], [21299612, 21301135]]
Promoter
Chrom Start End Description
chr19 21264943 21264958 CAGE_peak_3_at_ZNF714_5end
chr19 21264991 21265026 CAGE_peak_1_at_ZNF714_5end
chr19 21265028 21265052 CAGE_peak_2_at_ZNF714_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I021019 21019975 21024577 2.18 [{'connected_gene': 'ZNF430', 'score': 550.77}, {'connected_gene': 'ZNF100', 'score': 22.82}, {'connected_gene': 'LOC641367', 'score': 22.08}, {'connected_gene': 'ZNF714', 'score': 22.01}, {'connected_gene': 'ZNF90', 'score': 19.49}, {'connected_gene': 'BNIP3P26', 'score': 18.57}, {'connected_gene': 'RPL7AP10', 'score': 17.68}, {'connected_gene': 'ZNF66', 'score': 14.57}, {'connected_gene': 'ZNF431', 'score': 13.79}, {'connected_gene': 'ZNF486', 'score': 13.19}, {'connected_gene': 'BNIP3P16', 'score': 12.52}, {'connected_gene': 'VN1R82P', 'score': 11.73}, {'connected_gene': 'LOC101928960', 'score': 10.87}, {'connected_gene': 'ZNF429', 'score': 6.49}, {'connected_gene': 'ZNF738', 'score': 4.38}, {'connected_gene': 'ENSG00000271598', 'score': 0.77}]
chr19 GH19I021091 21091091 21092882 0.38 [{'connected_gene': 'ZNF431', 'score': 6.18}, {'connected_gene': 'ZNF429', 'score': 4.39}, {'connected_gene': 'ZNF714', 'score': 0.44}, {'connected_gene': 'GC19M022124', 'score': 0.34}, {'connected_gene': 'RNA5SP469', 'score': 0.34}]
chr19 GH19I021141 21141125 21144781 1.98 [{'connected_gene': 'ZNF431', 'score': 550.77}, {'connected_gene': 'ZNF100', 'score': 12.96}, {'connected_gene': 'ZNF708', 'score': 12.57}, {'connected_gene': 'ZNF714', 'score': 11.84}, {'connected_gene': 'LOC641367', 'score': 10.93}, {'connected_gene': 'ENSG00000268555', 'score': 10.71}, {'connected_gene': 'LOC105372321', 'score': 6.59}, {'connected_gene': 'ZNF738', 'score': 5.56}, {'connected_gene': 'ZNF429', 'score': 4.7}, {'connected_gene': 'RPL7AP10', 'score': 0.44}]
chr19 GH19I021027 21027793 21029143 0.9 [{'connected_gene': 'ZNF714', 'score': 21.06}, {'connected_gene': 'ENSG00000271598', 'score': 0.77}, {'connected_gene': 'ZNF430', 'score': 0.44}, {'connected_gene': 'VN1R80P', 'score': 0.28}]
chr19 GH19I021081 21081535 21083401 1.96 [{'connected_gene': 'ZNF714', 'score': 562.04}, {'connected_gene': 'LOC641367', 'score': 25.51}, {'connected_gene': 'ZNF100', 'score': 20.92}, {'connected_gene': 'BNIP3P26', 'score': 18.34}, {'connected_gene': 'RPL7AP10', 'score': 10.84}, {'connected_gene': 'BNIP3P16', 'score': 10.75}, {'connected_gene': 'ZNF431', 'score': 6.17}, {'connected_gene': 'GC19M022124', 'score': 0.29}, {'connected_gene': 'RNA5SP469', 'score': 0.29}]
chr19 GH19I021126 21126618 21130798 1.05 [{'connected_gene': 'ZNF714', 'score': 22.07}, {'connected_gene': 'ZNF431', 'score': 6.72}, {'connected_gene': 'LOC105372321', 'score': 5.99}, {'connected_gene': 'BNIP3P17', 'score': 4.8}, {'connected_gene': 'ZNF493', 'score': 4.22}, {'connected_gene': 'VN1R81P', 'score': 0.77}]
chr19 GH19I021138 21138238 21138407 0.46 [{'connected_gene': 'ZNF714', 'score': 11.86}, {'connected_gene': 'ZNF431', 'score': 0.77}, {'connected_gene': 'VN1R81P', 'score': 0.39}]
chr19 GH19I021100 21100911 21102137 0.31 [{'connected_gene': 'ZNF714', 'score': 7.92}, {'connected_gene': 'LOC105372321', 'score': 5.62}, {'connected_gene': 'ZNF493', 'score': 5.07}, {'connected_gene': 'GC19M022124', 'score': 0.39}, {'connected_gene': 'RNA5SP469', 'score': 0.39}]
chr19 GH19I021083 21083594 21083622 0.2 [{'connected_gene': 'ZNF714', 'score': 550.77}, {'connected_gene': 'GC19M022124', 'score': 0.31}, {'connected_gene': 'RNA5SP469', 'score': 0.31}]
chr19 GH19I021084 21083745 21085027 0.52 [{'connected_gene': 'ZNF714', 'score': 8.72}, {'connected_gene': 'GC19M022124', 'score': 0.31}, {'connected_gene': 'RNA5SP469', 'score': 0.31}]
chr19 GH19I021087 21087163 21087222 0.5 [{'connected_gene': 'ZNF714', 'score': 550.44}, {'connected_gene': 'GC19M022124', 'score': 0.31}, {'connected_gene': 'RNA5SP469', 'score': 0.31}]