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
ENST00000290868 [[126200123, 126201328], [126202211, 126202311], [126207040, 126207122], [126208118, 126208218], [126211260, 126211359], [126214880, 126214951], [126216893, 126217015], [126218179, 126218252], [126218899, 126218997], [126219537, 126219717], [126220060, 126220123], [126222837, 126222926], [126224543, 126224687], [126224787, 126224854], [126226584, 126226646], [126226809, 126226938], [126227258, 126227318], [126228427, 126228521], [126229506, 126229637], [126236436, 126236616]] [[126201187, 126201328], [126202211, 126202311], [126207040, 126207122], [126208118, 126208218], [126211260, 126211359], [126214880, 126214951], [126216893, 126217015], [126218179, 126218252], [126218899, 126218997], [126219537, 126219717], [126220060, 126220123], [126222837, 126222926], [126224543, 126224687], [126224787, 126224854], [126226584, 126226646], [126226809, 126226938], [126227258, 126227318], [126228427, 126228521], [126229506, 126229637], [126236436, 126236562]]
ENST00000383579 [[126200697, 126201328], [126202211, 126202311], [126207040, 126207122], [126208118, 126208218], [126211260, 126211359], [126214880, 126214951], [126216893, 126217015], [126218179, 126218252], [126218899, 126218997], [126219537, 126219717], [126220060, 126220155], [126220643, 126220791], [126222837, 126222926], [126224543, 126224687], [126224787, 126224854], [126226584, 126226646], [126226809, 126226938], [126227258, 126227318], [126228427, 126228521], [126229506, 126229637], [126236436, 126236596]] [[126201187, 126201328], [126202211, 126202311], [126207040, 126207122], [126208118, 126208218], [126211260, 126211359], [126214880, 126214951], [126216893, 126217015], [126218179, 126218252], [126218899, 126218997], [126219537, 126219717], [126220060, 126220155], [126220643, 126220791], [126222837, 126222926], [126224543, 126224687], [126224787, 126224854], [126226584, 126226646], [126226809, 126226938], [126227258, 126227318], [126228427, 126228521], [126229506, 126229637], [126236436, 126236562]]
NM_001165974 [[126200007, 126201328], [126202211, 126202311], [126207040, 126207122], [126208118, 126208218], [126211260, 126211359], [126214880, 126214951], [126216893, 126217015], [126218179, 126218252], [126218899, 126218997], [126219537, 126219717], [126220060, 126220155], [126220643, 126220791], [126222837, 126222926], [126224543, 126224687], [126224787, 126224854], [126226584, 126226646], [126226809, 126226938], [126227258, 126227318], [126228427, 126228521], [126229506, 126229637], [126236436, 126236616]] [[126201187, 126201328], [126202211, 126202311], [126207040, 126207122], [126208118, 126208218], [126211260, 126211359], [126214880, 126214951], [126216893, 126217015], [126218179, 126218252], [126218899, 126218997], [126219537, 126219717], [126220060, 126220155], [126220643, 126220791], [126222837, 126222926], [126224543, 126224687], [126224787, 126224854], [126226584, 126226646], [126226809, 126226938], [126227258, 126227318], [126228427, 126228521], [126229506, 126229637], [126236436, 126236562]]
NM_144639 [[126200007, 126201328], [126202211, 126202311], [126207040, 126207122], [126208118, 126208218], [126211260, 126211359], [126214880, 126214951], [126216893, 126217015], [126218179, 126218252], [126218899, 126218997], [126219537, 126219717], [126220060, 126220123], [126222837, 126222926], [126224543, 126224687], [126224787, 126224854], [126226584, 126226646], [126226809, 126226938], [126227258, 126227318], [126228427, 126228521], [126229506, 126229637], [126236436, 126236616]] [[126201187, 126201328], [126202211, 126202311], [126207040, 126207122], [126208118, 126208218], [126211260, 126211359], [126214880, 126214951], [126216893, 126217015], [126218179, 126218252], [126218899, 126218997], [126219537, 126219717], [126220060, 126220123], [126222837, 126222926], [126224543, 126224687], [126224787, 126224854], [126226584, 126226646], [126226809, 126226938], [126227258, 126227318], [126228427, 126228521], [126229506, 126229637], [126236436, 126236562]]
Promoter
Chrom Start End Description
chr3 126236588 126236601 CAGE_peak_1_at_UROC1_5end
chr3 126236605 126236621 CAGE_peak_2_at_UROC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I126493 126493980 126495149 0.31 [{'connected_gene': 'ZXDC', 'score': 10.52}, {'connected_gene': 'CHST13', 'score': 5.37}, {'connected_gene': 'UROC1', 'score': 0.34}]
chr3 GH03I126481 126481938 126482087 0.64 [{'connected_gene': 'ZXDC', 'score': 0.44}, {'connected_gene': 'UROC1', 'score': 0.28}]
chr3 GH03I126486 126486802 126487972 0.8 [{'connected_gene': 'ZXDC', 'score': 14.68}, {'connected_gene': 'UROC1', 'score': 0.29}]
chr3 GH03I126353 126353025 126358521 2.68 [{'connected_gene': 'KLF15', 'score': 566.7}, {'connected_gene': 'LOC101927056', 'score': 13.88}, {'connected_gene': 'ALDH1L1', 'score': 6.58}, {'connected_gene': 'OR7E29P', 'score': 5.38}, {'connected_gene': 'CFAP100', 'score': 1.64}, {'connected_gene': 'UROC1', 'score': 1.5}, {'connected_gene': 'LOC105374088', 'score': 0.26}]
chr3 GH03I126522 126522840 126531392 2.62 [{'connected_gene': 'CHST13', 'score': 609.65}, {'connected_gene': 'TXNRD3NB', 'score': 11.52}, {'connected_gene': 'TXNRD3', 'score': 11.48}, {'connected_gene': 'NUP210P1', 'score': 10.9}, {'connected_gene': 'OR7E29P', 'score': 5.22}, {'connected_gene': 'C3orf22', 'score': 4.5}, {'connected_gene': 'ZXDC', 'score': 1.83}, {'connected_gene': 'UROC1', 'score': 1.75}]
chr3 GH03I126523 126522021 126522800 1.11 [{'connected_gene': 'CHST13', 'score': 550.77}, {'connected_gene': 'UROC1', 'score': 0.77}, {'connected_gene': 'C3orf22', 'score': 0.28}]
chr3 GH03I126517 126517743 126517802 1.13 [{'connected_gene': 'UROC1', 'score': 550.77}, {'connected_gene': 'CHST13', 'score': 0.44}]
chr3 GH03I126459 126459738 126460947 0.2 [{'connected_gene': 'PIR31332', 'score': 550.77}, {'connected_gene': 'ZXDC', 'score': 18.01}, {'connected_gene': 'UROC1', 'score': 11.26}, {'connected_gene': 'CHST13', 'score': 11.24}, {'connected_gene': 'GC03M126451', 'score': 0.44}]
chr3 GH03I126461 126461004 126463317 0.2 [{'connected_gene': 'PIR31332', 'score': 550.77}, {'connected_gene': 'ZXDC', 'score': 21.7}, {'connected_gene': 'UROC1', 'score': 11.26}, {'connected_gene': 'CHST13', 'score': 11.24}]