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
ENST00000465232 [[124713896, 124714084], [124742787, 124743030], [124745815, 124745891], [124746384, 124746478], [124749689, 124749906]] None
ENST00000368887 [[124739555, 124740211], [124742248, 124742540], [124742787, 124742986], [124745815, 124745891], [124746384, 124746478], [124746849, 124747020], [124749689, 124749906]] [[124739995, 124740211], [124742248, 124742540], [124742787, 124742986], [124745815, 124745891], [124746384, 124746478]]
ENST00000405485 [[124739929, 124740211], [124742248, 124742540], [124742787, 124742986], [124745815, 124747020], [124749689, 124749908]] [[124739995, 124740211], [124742248, 124742540], [124742787, 124742986], [124745815, 124745978]]
ENST00000406217 [[124739993, 124740211], [124742248, 124742540], [124742787, 124742986], [124745815, 124745891], [124746384, 124746478], [124749689, 124749908]] [[124739993, 124740211], [124742248, 124742540], [124742787, 124742986], [124745815, 124745891], [124746384, 124746478], [124749689, 124749889]]
ENST00000483455 [[124740046, 124740211], [124742787, 124742986], [124745815, 124745891], [124746384, 124746478], [124749689, 124749851]] None
ENST00000497219 [[124741499, 124742540], [124742787, 124742986], [124745815, 124745891], [124746384, 124746478], [124746849, 124747020], [124749689, 124749923], [124756634, 124757029]] None
ENST00000493461 [[124741978, 124742540], [124742787, 124745763]] None
ENST00000483755 [[124742432, 124742540], [124742787, 124742986], [124745815, 124745891], [124749689, 124749908]] None
ENST00000496079 [[124742805, 124742986], [124745815, 124745891], [124746384, 124746478], [124749689, 124749923], [124754158, 124754445]] None
NM_153336 [[124739555, 124740211], [124742248, 124742540], [124742787, 124742986], [124745815, 124745891], [124746384, 124746478], [124746849, 124747020], [124749689, 124749906]] [[124739995, 124740211], [124742248, 124742540], [124742787, 124742986], [124745815, 124745891], [124746384, 124746478]]
Promoter
Chrom Start End Description
chr10 124713933 124714023 CAGE_peak_2_at_PSTK_5end
chr10 124739911 124739957 CAGE_peak_1_at_PSTK_5end
chr10 124739964 124739977 CAGE_peak_3_at_PSTK_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I122939 122939094 122940492 0.56 [{'connected_gene': 'C10orf88', 'score': 6.96}, {'connected_gene': 'ACADSB', 'score': 4.89}, {'connected_gene': 'PSTK', 'score': 0.39}, {'connected_gene': 'FAM24A', 'score': 0.31}, {'connected_gene': 'GC10M122775', 'score': 0.21}]
chr10 GH10I122953 122953200 122954934 2.09 [{'connected_gene': 'C10orf88', 'score': 575.86}, {'connected_gene': 'PSTK', 'score': 550.77}, {'connected_gene': 'BUB3', 'score': 35.85}, {'connected_gene': 'IKZF5', 'score': 19.4}, {'connected_gene': 'FAM24A', 'score': 0.26}, {'connected_gene': 'GC10M122775', 'score': 0.25}]
chr10 GH10I122930 122930335 122931984 0.82 [{'connected_gene': 'ACADSB', 'score': 14.67}, {'connected_gene': 'IKZF5', 'score': 10.19}, {'connected_gene': 'PSTK', 'score': 0.34}, {'connected_gene': 'FAM24A', 'score': 0.34}, {'connected_gene': 'C10orf88', 'score': 0.34}, {'connected_gene': 'GC10M122775', 'score': 0.2}]
chr10 GH10I122979 122979686 122981434 2.06 [{'connected_gene': 'PSTK', 'score': 550.31}, {'connected_gene': 'ACADSB', 'score': 23.45}, {'connected_gene': 'BUB3', 'score': 16.98}, {'connected_gene': 'IKZF5', 'score': 11.59}, {'connected_gene': 'BTBD16', 'score': 5.2}, {'connected_gene': 'GC10M122775', 'score': 0.34}, {'connected_gene': 'C10orf88', 'score': 0.31}]