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
ENST00000264451 [[41992488, 41992777], [42003632, 42003797], [42020127, 42020187], [42022432, 42022532], [42024854, 42024947], [42025318, 42025401], [42037291, 42037350], [42041002, 42041070], [42051393, 42051496], [42062207, 42062263], [42065002, 42065138], [42067326, 42067366], [42068566, 42068638], [42069101, 42069209], [42072542, 42072708], [42077673, 42077803], [42080228, 42080342], [42088098, 42092474]] [[41992668, 41992777], [42003632, 42003797], [42020127, 42020187], [42022432, 42022532], [42024854, 42024947], [42025318, 42025401], [42037291, 42037350], [42041002, 42041070], [42051393, 42051496], [42062207, 42062263], [42065002, 42065138], [42067326, 42067366], [42068566, 42068638], [42069101, 42069209], [42072542, 42072708], [42077673, 42077803], [42080228, 42080342], [42088098, 42088143]]
ENST00000513699 [[41992518, 41992777], [42003632, 42003797], [42020127, 42020187], [42020405, 42020522], [42022432, 42022532], [42024854, 42024947], [42025318, 42025401], [42037291, 42037350], [42041002, 42041070], [42051393, 42051496], [42062207, 42062263], [42065002, 42065138], [42067326, 42067366], [42068566, 42068638], [42069101, 42069209], [42072542, 42072708], [42077673, 42077803], [42080228, 42080342], [42088098, 42088386]] [[41992668, 41992777], [42003632, 42003797], [42020127, 42020187], [42020405, 42020431]]
ENST00000509683 [[42065050, 42065138], [42067326, 42067366], [42068566, 42068638], [42069101, 42069209], [42077673, 42077803], [42080228, 42080868]] None
ENST00000505523 [[42072205, 42072309], [42072542, 42072708], [42077673, 42077803], [42080228, 42080342], [42088098, 42088393]] None
ENST00000510460 [[41992543, 41992777], [42003632, 42003797], [42020127, 42020187], [42022432, 42022792]] None
NM_006345 [[41992522, 41992777], [42003632, 42003797], [42020127, 42020187], [42022432, 42022532], [42024854, 42024947], [42025318, 42025401], [42037291, 42037350], [42041002, 42041070], [42051393, 42051496], [42062207, 42062263], [42065002, 42065138], [42067326, 42067366], [42068566, 42068638], [42069101, 42069209], [42072542, 42072708], [42077673, 42077803], [42080228, 42080342], [42088098, 42089551]] [[41992668, 41992777], [42003632, 42003797], [42020127, 42020187], [42022432, 42022532], [42024854, 42024947], [42025318, 42025401], [42037291, 42037350], [42041002, 42041070], [42051393, 42051496], [42062207, 42062263], [42065002, 42065138], [42067326, 42067366], [42068566, 42068638], [42069101, 42069209], [42072542, 42072708], [42077673, 42077803], [42080228, 42080342], [42088098, 42088143]]
Promoter
Chrom Start End Description
chr4 41992513 41992561 CAGE_peak_1_at_SLC30A9_5end
chr4 41992565 41992580 CAGE_peak_2_at_SLC30A9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I041256 41256244 41259065 1.92 [{'connected_gene': 'UCHL1', 'score': 561.77}, {'connected_gene': 'UCHL1-AS1', 'score': 550.77}, {'connected_gene': 'SLC30A9', 'score': 10.76}, {'connected_gene': 'GC04P041269', 'score': 0.39}, {'connected_gene': 'PIR50176', 'score': 0.39}]
chr4 GH04I041211 41211604 41217882 2.26 [{'connected_gene': 'APBB2', 'score': 560.33}, {'connected_gene': 'ATP1B1P1', 'score': 16.21}, {'connected_gene': 'UCHL1-AS1', 'score': 11.5}, {'connected_gene': 'UCHL1', 'score': 11.5}, {'connected_gene': 'ENSG00000250906', 'score': 11.46}, {'connected_gene': 'SLC30A9', 'score': 10.55}, {'connected_gene': 'RNU6-1195P', 'score': 0.15}]
chr4 GH04I041346 41346338 41347373 1.04 [{'connected_gene': 'SLC30A9', 'score': 28.73}, {'connected_gene': 'LIMCH1', 'score': 20.8}, {'connected_gene': 'UCHL1', 'score': 11.73}, {'connected_gene': 'ATP1B1P1', 'score': 9.67}, {'connected_gene': 'GC04M041303', 'score': 0.26}, {'connected_gene': 'ENSG00000207481', 'score': 0.26}]
chr4 GH04I041989 41989600 41992557 2.03 [{'connected_gene': 'SLC30A9', 'score': 563.3}, {'connected_gene': 'GC04M041991', 'score': 550.77}, {'connected_gene': 'ENSG00000272862', 'score': 550.77}, {'connected_gene': 'GC04P042010', 'score': 0.37}]