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
ENST00000305364 [[27142403, 27145644], [27146678, 27146797], [27147672, 27147695], [27151596, 27151827], [27155980, 27156076], [27168317, 27168836]] [[27145066, 27145644], [27146678, 27146797], [27147672, 27147695], [27151596, 27151827], [27155980, 27156076], [27168317, 27168752]]
ENST00000521283 [[27143325, 27143654], [27145552, 27145644], [27146678, 27146797], [27147672, 27147695], [27151596, 27151652]] [[27143642, 27143654], [27145552, 27145644], [27146678, 27146797], [27147672, 27147695], [27151596, 27151652]]
ENST00000521253 [[27145217, 27145644], [27146678, 27146797], [27151596, 27151827], [27168317, 27168755]] [[27145628, 27145644], [27146678, 27146797], [27151596, 27151827], [27168317, 27168752]]
ENST00000519219 [[27151556, 27151827], [27155980, 27156076], [27168317, 27168373]] None
NM_171982 [[27142402, 27145644], [27146678, 27146797], [27147672, 27147695], [27151596, 27151827], [27155980, 27156076], [27168317, 27168836]] [[27145066, 27145644], [27146678, 27146797], [27147672, 27147695], [27151596, 27151827], [27155980, 27156076], [27168317, 27168752]]
NM_001304495 [[27142402, 27145644], [27146678, 27146797], [27151596, 27151827], [27168317, 27168836]] [[27145628, 27145644], [27146678, 27146797], [27151596, 27151827], [27168317, 27168752]]
Promoter
Chrom Start End Description
chr8 27168737 27168810 CAGE_peak_1_at_TRIM35_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I027260 27260348 27263442 0.57 [{'connected_gene': 'STMN4', 'score': 7.58}, {'connected_gene': 'TRIM35', 'score': 6.19}, {'connected_gene': 'PTK2B', 'score': 5.04}, {'connected_gene': 'PIR41134', 'score': 0.34}]
chr8 GH08I027280 27280652 27282745 1.2 [{'connected_gene': 'STMN4', 'score': 11.2}, {'connected_gene': 'TRIM35', 'score': 9.28}, {'connected_gene': 'PTK2B', 'score': 8.46}, {'connected_gene': 'PIR41134', 'score': 0.77}]
chr8 GH08I027299 27299396 27300582 1.07 [{'connected_gene': 'STMN4', 'score': 11.15}, {'connected_gene': 'TRIM35', 'score': 9.95}, {'connected_gene': 'PIR41134', 'score': 0.39}]
chr8 GH08I027289 27289722 27290891 0.2 [{'connected_gene': 'STMN4', 'score': 11.16}, {'connected_gene': 'TRIM35', 'score': 10.67}, {'connected_gene': 'PIR41134', 'score': 0.77}]
chr8 GH08I027295 27295992 27297582 0.58 [{'connected_gene': 'STMN4', 'score': 10.98}, {'connected_gene': 'PTK2B', 'score': 6.24}, {'connected_gene': 'CHRNA2', 'score': 4.86}, {'connected_gene': 'TRIM35', 'score': 0.39}, {'connected_gene': 'PIR41134', 'score': 0.39}]
chr8 GH08I027267 27267898 27269665 0.58 [{'connected_gene': 'TRIM35', 'score': 7.56}, {'connected_gene': 'STMN4', 'score': 0.44}, {'connected_gene': 'PIR41134', 'score': 0.37}]
chr8 GH08I027273 27273944 27275200 1.34 [{'connected_gene': 'TRIM35', 'score': 9.32}, {'connected_gene': 'PIR41134', 'score': 0.39}, {'connected_gene': 'STMN4', 'score': 0.37}]
chr8 GH08I027308 27308366 27313009 2.26 [{'connected_gene': 'TRIM35', 'score': 560.18}, {'connected_gene': 'PTK2B', 'score': 550.77}, {'connected_gene': 'ELP3', 'score': 9.75}, {'connected_gene': 'CHRNA2', 'score': 4.94}, {'connected_gene': 'EPHX2', 'score': 4.35}, {'connected_gene': 'PIR41134', 'score': 0.34}]
chr8 GH08I027413 27413158 27413955 0.51 [{'connected_gene': 'TRIM35', 'score': 12.45}, {'connected_gene': 'PTK2B', 'score': 12.45}, {'connected_gene': 'CHRNA2', 'score': 11.02}, {'connected_gene': 'EPHX2', 'score': 11.0}, {'connected_gene': 'CLU', 'score': 10.47}, {'connected_gene': 'MIR6842', 'score': 0.37}]
chr8 GH08I027314 27314904 27316172 1.41 [{'connected_gene': 'TRIM35', 'score': 10.17}, {'connected_gene': 'CHRNA2', 'score': 4.93}, {'connected_gene': 'PTK2B', 'score': 0.77}, {'connected_gene': 'MIR6842', 'score': 0.13}]
chr8 GH08I027330 27330578 27336820 1.71 [{'connected_gene': 'PTK2B', 'score': 25.74}, {'connected_gene': 'TRIM35', 'score': 21.61}, {'connected_gene': 'EPHX2', 'score': 17.42}, {'connected_gene': 'CLU', 'score': 9.88}, {'connected_gene': 'CHRNA2', 'score': 9.86}, {'connected_gene': 'MIR6842', 'score': 0.15}]
chr8 GH08I027414 27414938 27425193 0.65 [{'connected_gene': 'PTK2B', 'score': 22.81}, {'connected_gene': 'TRIM35', 'score': 12.45}, {'connected_gene': 'EPHX2', 'score': 11.3}, {'connected_gene': 'CHRNA2', 'score': 11.04}, {'connected_gene': 'CLU', 'score': 10.47}, {'connected_gene': 'LOC105379337', 'score': 9.68}, {'connected_gene': 'MIR6842', 'score': 0.39}]
chr8 GH08I027324 27324686 27328951 2.07 [{'connected_gene': 'PTK2B', 'score': 550.37}, {'connected_gene': 'CLU', 'score': 10.37}, {'connected_gene': 'TRIM35', 'score': 8.85}, {'connected_gene': 'MIR6842', 'score': 0.14}]
chr8 GH08I027321 27321933 27324383 1.11 [{'connected_gene': 'EPHX2', 'score': 11.02}, {'connected_gene': 'CLU', 'score': 10.37}, {'connected_gene': 'CHRNA2', 'score': 10.34}, {'connected_gene': 'TRIM35', 'score': 7.9}, {'connected_gene': 'PTK2B', 'score': 0.39}, {'connected_gene': 'MIR6842', 'score': 0.14}]
chr8 GH08I027317 27317546 27317931 0.4 [{'connected_gene': 'CHRNA2', 'score': 10.27}, {'connected_gene': 'EPHX2', 'score': 10.27}, {'connected_gene': 'CLU', 'score': 9.94}, {'connected_gene': 'TRIM35', 'score': 9.63}, {'connected_gene': 'PTK2B', 'score': 0.44}, {'connected_gene': 'MIR6842', 'score': 0.13}]
chr8 GH08I027286 27286557 27287440 0.63 [{'connected_gene': 'PIR41134', 'score': 550.77}, {'connected_gene': 'STMN4', 'score': 11.17}, {'connected_gene': 'TRIM35', 'score': 5.3}]