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
ENST00000350889 [[27092839, 27094422], [27097487, 27097679], [27098570, 27098779], [27099193, 27099274], [27099913, 27100009], [27101227, 27101318], [27115867, 27115903]] [[27094362, 27094422], [27097487, 27097679], [27098570, 27098779], [27099193, 27099274], [27099913, 27100009], [27101227, 27101240]]
ENST00000519997 [[27093401, 27094422], [27096742, 27096796], [27097487, 27097679], [27098570, 27098779], [27099913, 27100009], [27115867, 27115918]] [[27096775, 27096796], [27097487, 27097679], [27098570, 27098779], [27099913, 27099995]]
ENST00000265770 [[27093819, 27094422], [27097487, 27097679], [27098570, 27098779], [27099913, 27100009], [27101227, 27101318], [27115867, 27115926]] [[27094362, 27094422], [27097487, 27097679], [27098570, 27098779], [27099913, 27100009], [27101227, 27101240]]
ENST00000523048 [[27093991, 27094422], [27096742, 27096796], [27097487, 27097679], [27098570, 27098779], [27099193, 27099274], [27099913, 27100009], [27101227, 27101318], [27115867, 27115937]] [[27096775, 27096796], [27097487, 27097679], [27098570, 27098779], [27099193, 27099274], [27099913, 27100009], [27101227, 27101240]]
ENST00000519614 [[27096856, 27097679], [27098570, 27098779], [27099913, 27100009], [27101227, 27101318], [27115867, 27115921]] [[27097301, 27097679], [27098570, 27098779], [27099913, 27100009], [27101227, 27101240]]
ENST00000522908 [[27097206, 27097679], [27098570, 27098779], [27099193, 27099274], [27099913, 27100009], [27101227, 27101318], [27115867, 27115921]] [[27097301, 27097679], [27098570, 27098779], [27099193, 27099274], [27099913, 27100009], [27101227, 27101240]]
ENST00000522750 [[27098684, 27098779], [27099193, 27099274], [27099626, 27100009], [27101227, 27101318], [27115867, 27115915]] None
NM_001283053 [[27092839, 27094422], [27096742, 27096796], [27097487, 27097679], [27098570, 27098779], [27099193, 27099274], [27099913, 27100009], [27101227, 27101318], [27115867, 27115956]] [[27096775, 27096796], [27097487, 27097679], [27098570, 27098779], [27099193, 27099274], [27099913, 27100009], [27101227, 27101240]]
NM_030795 [[27092839, 27094422], [27097487, 27097679], [27098570, 27098779], [27099193, 27099274], [27099913, 27100009], [27101227, 27101318], [27115867, 27115956]] [[27094362, 27094422], [27097487, 27097679], [27098570, 27098779], [27099193, 27099274], [27099913, 27100009], [27101227, 27101240]]
NM_001283054 [[27092839, 27094422], [27097487, 27097679], [27098570, 27098779], [27099913, 27100009], [27101227, 27101318], [27115867, 27115956]] [[27094362, 27094422], [27097487, 27097679], [27098570, 27098779], [27099913, 27100009], [27101227, 27101240]]
NM_001283055 [[27092839, 27094422], [27096742, 27096796], [27097487, 27097679], [27098570, 27098779], [27099913, 27100009], [27115867, 27115956]] [[27096775, 27096796], [27097487, 27097679], [27098570, 27098779], [27099913, 27099995]]
Promoter
Chrom Start End Description
chr8 27115909 27115927 CAGE_peak_1_at_STMN4_5end
chr8 27115931 27115942 CAGE_peak_2_at_STMN4_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 GH08I027230 27230817 27233736 0.95 [{'connected_gene': 'STMN4', 'score': 17.73}, {'connected_gene': 'PTK2B', 'score': 4.42}, {'connected_gene': 'GC08P027227', 'score': 0.77}]
chr8 GH08I027240 27240557 27251028 0.66 [{'connected_gene': 'STMN4', 'score': 15.2}, {'connected_gene': 'EPHX2', 'score': 5.43}, {'connected_gene': 'PTK2B', 'score': 4.85}, {'connected_gene': 'ADRA1A', 'score': 4.55}, {'connected_gene': 'LOC105379337', 'score': 4.48}, {'connected_gene': 'GC08P027227', 'score': 0.37}]
chr8 GH08I027256 27256806 27259193 1.47 [{'connected_gene': 'STMN4', 'score': 550.77}, {'connected_gene': 'ADRA1A', 'score': 5.0}, {'connected_gene': 'GC08P027227', 'score': 0.29}]
chr8 GH08I027218 27218668 27218743 0.33 [{'connected_gene': 'STMN4', 'score': 10.75}, {'connected_gene': 'LOC105379340', 'score': 10.63}, {'connected_gene': 'ADRA1A', 'score': 2.68}, {'connected_gene': 'EPHX2', 'score': 1.43}, {'connected_gene': 'GC08P027227', 'score': 0.44}, {'connected_gene': 'GC08P027175', 'score': 0.26}]
chr8 GH08I027255 27255549 27256047 0.31 [{'connected_gene': 'STMN4', 'score': 0.77}, {'connected_gene': 'GC08P027227', 'score': 0.31}]
chr8 GH08I027237 27237982 27238116 0.42 [{'connected_gene': 'STMN4', 'score': 12.78}, {'connected_gene': 'GC08P027227', 'score': 0.39}]
chr8 GH08I027635 27635763 27638474 1.1 [{'connected_gene': 'SCARA3', 'score': 15.62}, {'connected_gene': 'CLU', 'score': 5.14}, {'connected_gene': 'STMN4', 'score': 3.18}, {'connected_gene': 'CHRNA2', 'score': 1.69}, {'connected_gene': 'RNU6-1086P', 'score': 0.26}]
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 GH08I027403 27403539 27407064 1.36 [{'connected_gene': 'PTK2B', 'score': 15.03}, {'connected_gene': 'STMN4', 'score': 9.61}, {'connected_gene': 'MIR6842', 'score': 0.31}]
chr8 GH08I027253 27253711 27255212 0.46 [{'connected_gene': 'EPHX2', 'score': 4.96}, {'connected_gene': 'ADRA1A', 'score': 4.35}, {'connected_gene': 'STMN4', 'score': 0.77}, {'connected_gene': 'GC08P027227', 'score': 0.31}]
chr8 GH08I027238 27238402 27240510 0.2 [{'connected_gene': 'ADRA1A', 'score': 6.25}, {'connected_gene': 'BNIP3L', 'score': 5.24}, {'connected_gene': 'GC08P027227', 'score': 0.39}, {'connected_gene': 'STMN4', 'score': 0.37}]
chr8 GH08I027286 27286557 27287440 0.63 [{'connected_gene': 'PIR41134', 'score': 550.77}, {'connected_gene': 'STMN4', 'score': 11.17}, {'connected_gene': 'TRIM35', 'score': 5.3}]