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
ENST00000315099 [[93733212, 93734126], [93747210, 93747454]] [[93733228, 93734113]]
NM_001001850 [[93733212, 93734126], [93747210, 93747454]] [[93733228, 93734113]]
Promoter
Chrom Start End Description
chr3 93747425 93747450 CAGE_peak_1_at_STX19_5end
chr3 93747459 93747476 CAGE_peak_2_at_STX19_5end
chr3 93747492 93747502 CAGE_peak_3_at_STX19_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I094332 94332174 94334985 0.63 [{'connected_gene': 'STX19', 'score': 8.21}, {'connected_gene': 'PROS1', 'score': 3.77}, {'connected_gene': 'GC03P094366', 'score': 0.29}, {'connected_gene': 'GC03M094207', 'score': 0.2}]
chr3 GH03I094412 94412448 94414285 0.43 [{'connected_gene': 'STX19', 'score': 7.06}, {'connected_gene': 'GC03P094387', 'score': 0.31}, {'connected_gene': 'ARMC10P1', 'score': 0.16}]
chr3 GH03I094028 94028557 94028686 1.06 [{'connected_gene': 'STX19', 'score': 550.77}, {'connected_gene': 'HMGN1P7', 'score': 0.28}, {'connected_gene': 'ARL13B', 'score': 0.25}]
chr3 GH03I094061 94061883 94064813 2.03 [{'connected_gene': 'DHFR2', 'score': 554.31}, {'connected_gene': 'NSUN3', 'score': 550.77}, {'connected_gene': 'STX19', 'score': 8.35}]
chr3 GH03I094004 94004189 94004800 0.89 [{'connected_gene': 'DHFR2', 'score': 11.54}, {'connected_gene': 'NSUN3', 'score': 11.54}, {'connected_gene': 'HMGN1P7', 'score': 0.37}, {'connected_gene': 'STX19', 'score': 0.34}, {'connected_gene': 'ARL13B', 'score': 0.34}]
chr3 GH03I093843 93843349 93845018 0.79 [{'connected_gene': 'RNU6-488P', 'score': 550.77}, {'connected_gene': 'STX19', 'score': 11.57}, {'connected_gene': 'PROS1', 'score': 4.16}, {'connected_gene': 'PIR37198', 'score': 0.31}]