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
ENST00000248228 [[7828034, 7828198], [7828278, 7828362], [7830070, 7830154], [7830523, 7830679], [7830745, 7831093], [7831541, 7831693], [7832401, 7832514], [7833723, 7834490]] [[7828152, 7828198], [7828278, 7828362], [7830070, 7830154], [7830523, 7830679], [7830745, 7831093], [7831541, 7831693], [7832401, 7832514], [7833723, 7833874]]
ENST00000357361 [[7828034, 7828198], [7828278, 7828362], [7830070, 7830154], [7830523, 7831093], [7831541, 7831693], [7833723, 7834490]] [[7828152, 7828198], [7828278, 7828362], [7830070, 7830154], [7830523, 7831093], [7831541, 7831693], [7833723, 7833762]]
ENST00000334806 [[7828034, 7828198], [7830070, 7830154], [7830523, 7830708], [7830777, 7831093], [7831541, 7831693], [7832401, 7832514], [7833723, 7834490]] [[7828152, 7828198], [7830070, 7830154], [7830523, 7830708], [7830777, 7831093], [7831541, 7831693], [7832401, 7832514], [7833723, 7833874]]
ENST00000394122 [[7828034, 7828198], [7828278, 7828296], [7828320, 7828362], [7830070, 7830135], [7830255, 7830262], [7830523, 7831093], [7831541, 7831693], [7832401, 7832514], [7833723, 7834490]] [[7828152, 7828198], [7828278, 7828296], [7828320, 7828362], [7830070, 7830135], [7830255, 7830262], [7830523, 7831093], [7831541, 7831693], [7832401, 7832514], [7833723, 7833874]]
ENST00000359059 [[7828034, 7828198], [7828278, 7828362], [7830502, 7830708], [7830777, 7831024], [7831541, 7831693], [7832401, 7832514], [7833723, 7834490]] [[7828152, 7828198], [7828278, 7828362], [7830502, 7830708], [7830777, 7831024], [7831541, 7831693], [7832401, 7832514], [7833723, 7833874]]
ENST00000327325 [[7828034, 7828198], [7828278, 7828362], [7830070, 7830154], [7830523, 7831093], [7831541, 7831693], [7832401, 7832514], [7833723, 7834491]] [[7828152, 7828198], [7828278, 7828362], [7830070, 7830154], [7830523, 7831093], [7831541, 7831693], [7832401, 7832514], [7833723, 7833874]]
ENST00000596363 [[7828102, 7828198], [7830070, 7830154], [7830523, 7831093], [7831541, 7831693], [7833723, 7834490]] [[7828152, 7828198], [7830070, 7830154], [7830523, 7831093], [7831541, 7831693], [7833723, 7833762]]
ENST00000595751 [[7828129, 7828198], [7828278, 7828362], [7830523, 7831093], [7831541, 7831688]] [[7828152, 7828198], [7828278, 7828362], [7830523, 7831093], [7831541, 7831688]]
ENST00000601089 [[7828147, 7828198], [7830523, 7833461]] None
ENST00000596707 [[7828152, 7828198], [7828278, 7828362], [7830502, 7830955], [7831541, 7831693], [7832401, 7832514], [7833723, 7833874]] [[7828152, 7828198], [7828278, 7828362], [7830502, 7830955], [7831541, 7831693], [7832401, 7832514], [7833723, 7833874]]
ENST00000598879 [[7828152, 7828198], [7828278, 7828362], [7830070, 7830154], [7830523, 7831693], [7833723, 7833874]] None
ENST00000597522 [[7828152, 7828198], [7828278, 7828362], [7830070, 7830154], [7830523, 7830817], [7831541, 7831693], [7833723, 7833874]] [[7828152, 7828198], [7828278, 7828362], [7830070, 7830154], [7830523, 7830817], [7831541, 7831693], [7833723, 7833762]]
ENST00000599333 [[7828152, 7828198], [7828278, 7828362], [7830502, 7831693], [7833723, 7833874]] None
ENST00000595496 [[7828152, 7828198], [7828278, 7828362], [7830502, 7830748], [7831541, 7831693], [7832401, 7832514], [7833723, 7833874]] [[7828152, 7828198], [7828278, 7828362], [7830502, 7830748], [7831541, 7831693], [7832401, 7832514], [7833723, 7833874]]
ENST00000602143 [[7831479, 7831693], [7832401, 7832514], [7833723, 7834004]] None
NM_001144904 [[7828034, 7828198], [7830070, 7830154], [7830523, 7830669], [7830738, 7831093], [7831541, 7831693], [7832401, 7832514], [7833723, 7834491]] [[7828152, 7828198], [7830070, 7830154], [7830523, 7830669], [7830738, 7831093], [7831541, 7831693], [7832401, 7832514], [7833723, 7833874]]
NM_001144911 [[7828034, 7828198], [7830070, 7830154], [7830523, 7831093], [7831541, 7831693], [7833723, 7834491]] [[7828152, 7828198], [7830070, 7830154], [7830523, 7831093], [7831541, 7831693], [7833723, 7833762]]
NM_001144905 [[7828034, 7828198], [7828281, 7828362], [7830070, 7830154], [7830523, 7830669], [7830738, 7831093], [7831541, 7831693], [7832401, 7832514], [7833723, 7834491]] [[7828152, 7828198], [7828281, 7828362], [7830070, 7830154], [7830523, 7830669], [7830738, 7831093], [7831541, 7831693], [7832401, 7832514], [7833723, 7833874]]
NM_001144907 [[7828034, 7828198], [7828278, 7828362], [7830502, 7830669], [7830738, 7831024], [7831541, 7831693], [7832401, 7832514], [7833723, 7834491]] [[7828152, 7828198], [7828278, 7828362], [7830502, 7830669], [7830738, 7831024], [7831541, 7831693], [7832401, 7832514], [7833723, 7833874]]
NM_001144906 [[7828034, 7828198], [7828278, 7828362], [7830502, 7830748], [7831541, 7831693], [7832401, 7832514], [7833723, 7834491]] [[7828152, 7828198], [7828278, 7828362], [7830502, 7830748], [7831541, 7831693], [7832401, 7832514], [7833723, 7833874]]
NR_026709 [[7828034, 7828198], [7828278, 7828362], [7830502, 7831693], [7833723, 7834491]] None
NM_001144910 [[7828034, 7828198], [7828278, 7828362], [7830070, 7830154], [7830523, 7830669], [7830738, 7831093], [7831541, 7831693], [7832401, 7832514], [7833723, 7834491]] [[7828152, 7828198], [7828278, 7828362], [7830070, 7830154], [7830523, 7830669], [7830738, 7831093], [7831541, 7831693], [7832401, 7832514], [7833723, 7833874]]
NM_001144909 [[7828034, 7828198], [7828278, 7828362], [7830070, 7830154], [7830523, 7830807], [7830945, 7831093], [7831541, 7831693], [7832401, 7832514], [7833723, 7834491]] [[7828152, 7828198], [7828278, 7828362], [7830070, 7830154], [7830523, 7830807], [7830945, 7831093], [7831541, 7831693], [7832401, 7832514], [7833723, 7833874]]
NM_001144908 [[7828034, 7828198], [7828278, 7828362], [7830070, 7830154], [7830523, 7830817], [7831541, 7831693], [7833723, 7834491]] [[7828152, 7828198], [7828278, 7828362], [7830070, 7830154], [7830523, 7830817], [7831541, 7831693], [7833723, 7833762]]
NM_014257 [[7828034, 7828198], [7828278, 7828362], [7830070, 7830154], [7830523, 7831093], [7831541, 7831693], [7832401, 7832514], [7833723, 7834491]] [[7828152, 7828198], [7828278, 7828362], [7830070, 7830154], [7830523, 7831093], [7831541, 7831693], [7832401, 7832514], [7833723, 7833874]]
NR_026708 [[7828034, 7828198], [7828278, 7828362], [7830070, 7830154], [7830523, 7831693], [7833723, 7834491]] None
NR_026707 [[7828034, 7828198], [7828278, 7828362], [7830070, 7830154], [7830523, 7831693], [7832401, 7832514], [7833723, 7834491]] None
Promoter
Chrom Start End Description
chr19 7828124 7828137 CAGE_peak_1_at_CLEC4M_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I007763 7763195 7763254 0.5 [{'connected_gene': 'CLEC4M', 'score': 550.77}, {'connected_gene': 'LOC105372263', 'score': 0.44}]
chr19 GH19I007751 7751275 7751681 0.84 [{'connected_gene': 'RPL21P129', 'score': 550.77}, {'connected_gene': 'GC19P007750', 'score': 550.77}, {'connected_gene': 'CLEC4M', 'score': 5.11}, {'connected_gene': 'FCER2', 'score': 1.79}, {'connected_gene': 'XAB2', 'score': 1.4}]