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
ENST00000439576 [[89346673, 89347040], [89379430, 89379507], [89381893, 89382277], [89383242, 89383417], [89384970, 89385098], [89386585, 89386879], [89388735, 89389113], [89390473, 89390648], [89391141, 89391269], [89392668, 89392962], [89395024, 89395264], [89398082, 89402648], [89403556, 89403670], [89414612, 89414771], [89415233, 89415316], [89416111, 89416256], [89417072, 89417255], [89417635, 89418585]] [[89379437, 89379507], [89381893, 89382277], [89383242, 89383417], [89384970, 89385098], [89386585, 89386879], [89388735, 89389113], [89390473, 89390648], [89391141, 89391269], [89392668, 89392962], [89395024, 89395264], [89398082, 89402648], [89403556, 89403670], [89414612, 89414771], [89415233, 89415316], [89416111, 89416256], [89417072, 89417255], [89417635, 89417712]]
ENST00000558207 [[89346704, 89347040], [89379430, 89379507], [89381893, 89382277], [89383242, 89383417], [89384970, 89385098], [89386585, 89386879], [89388735, 89389113], [89390473, 89390648], [89391141, 89391269], [89392668, 89394752]] [[89379437, 89379507], [89381893, 89382277], [89383242, 89383417], [89384970, 89385098], [89386585, 89386879], [89388735, 89389113], [89390473, 89390648], [89391141, 89391269], [89392668, 89393102]]
ENST00000559004 [[89346989, 89347040], [89379430, 89379507], [89381893, 89382277], [89383242, 89383417], [89384970, 89385098], [89386585, 89386879], [89388735, 89389113], [89390473, 89390648], [89391141, 89391269], [89392668, 89392962], [89395024, 89395264], [89398082, 89402648], [89414612, 89414771], [89415233, 89415316], [89416111, 89416256], [89417072, 89417255], [89417635, 89417803]] [[89379437, 89379507], [89381893, 89382277], [89383242, 89383417], [89384970, 89385098], [89386585, 89386879], [89388735, 89389113], [89390473, 89390648], [89391141, 89391269], [89392668, 89392962], [89395024, 89395264], [89398082, 89402648], [89414612, 89414771], [89415233, 89415316], [89416111, 89416256], [89417072, 89417255], [89417635, 89417712]]
ENST00000352105 [[89346989, 89347040], [89379430, 89379507], [89381893, 89382277], [89383242, 89383417], [89384970, 89385098], [89386585, 89386879], [89388735, 89389113], [89390473, 89390648], [89391141, 89391269], [89392668, 89392962], [89395024, 89395264], [89398082, 89402648], [89414612, 89414771], [89415233, 89415316], [89416111, 89416256], [89417635, 89417884]] [[89379437, 89379507], [89381893, 89382277], [89383242, 89383417], [89384970, 89385098], [89386585, 89386879], [89388735, 89389113], [89390473, 89390648], [89391141, 89391269], [89392668, 89392962], [89395024, 89395264], [89398082, 89402648], [89414612, 89414771], [89415233, 89415316], [89416111, 89416256], [89417635, 89417712]]
ENST00000561243 [[89379437, 89379507], [89381893, 89382277], [89383242, 89383417], [89384970, 89385098], [89386585, 89386879], [89388735, 89389113], [89390473, 89390648], [89391141, 89391269], [89392668, 89392962], [89395024, 89395264], [89398082, 89402648], [89403556, 89403670], [89414612, 89414771], [89415233, 89415316], [89416111, 89416256], [89417072, 89417255], [89417635, 89417712]] [[89379437, 89379507], [89381893, 89382277], [89383242, 89383417], [89384970, 89385098], [89386585, 89386879], [89388735, 89389113], [89390473, 89390648], [89391141, 89391269], [89392668, 89392962], [89395024, 89395264], [89398082, 89402648], [89403556, 89403670], [89414612, 89414771], [89415233, 89415316], [89416111, 89416256], [89417072, 89417255], [89417635, 89417712]]
ENST00000560601 [[89402306, 89402648], [89403556, 89403670], [89411446, 89411560], [89414612, 89414721]] [[89402306, 89402648], [89403556, 89403670], [89411446, 89411560], [89414612, 89414721]]
ENST00000558704 [[89416199, 89416256], [89417072, 89417290], [89417635, 89418072]] [[89416199, 89416256], [89417072, 89417290], [89417635, 89417830]]
ENST00000558604 [[89416943, 89417255], [89417635, 89418072]] None
NM_001135 [[89346673, 89347040], [89379430, 89379507], [89381893, 89382277], [89383242, 89383417], [89384970, 89385098], [89386585, 89386879], [89388735, 89389113], [89390473, 89390648], [89391141, 89391269], [89392668, 89392962], [89395024, 89395264], [89398082, 89402648], [89414612, 89414771], [89415233, 89415316], [89416111, 89416256], [89417635, 89418585]] [[89379437, 89379507], [89381893, 89382277], [89383242, 89383417], [89384970, 89385098], [89386585, 89386879], [89388735, 89389113], [89390473, 89390648], [89391141, 89391269], [89392668, 89392962], [89395024, 89395264], [89398082, 89402648], [89414612, 89414771], [89415233, 89415316], [89416111, 89416256], [89417635, 89417712]]
NM_013227 [[89346673, 89347040], [89379430, 89379507], [89381893, 89382277], [89383242, 89383417], [89384970, 89385098], [89386585, 89386879], [89388735, 89389113], [89390473, 89390648], [89391141, 89391269], [89392668, 89392962], [89395024, 89395264], [89398082, 89402648], [89403556, 89403670], [89414612, 89414771], [89415233, 89415316], [89416111, 89416256], [89417072, 89417255], [89417635, 89418585]] [[89379437, 89379507], [89381893, 89382277], [89383242, 89383417], [89384970, 89385098], [89386585, 89386879], [89388735, 89389113], [89390473, 89390648], [89391141, 89391269], [89392668, 89392962], [89395024, 89395264], [89398082, 89402648], [89403556, 89403670], [89414612, 89414771], [89415233, 89415316], [89416111, 89416256], [89417072, 89417255], [89417635, 89417712]]
Promoter
Chrom Start End Description
chr15 89346657 89346673 CAGE_peak_1_at_ACAN_5end
chr15 89346682 89346691 CAGE_peak_4_at_ACAN_5end
chr15 89346699 89346715 CAGE_peak_2_at_ACAN_5end
chr15 89346739 89346750 CAGE_peak_3_at_ACAN_5end
chr15 89401833 89401842 CAGE_peak_10_at_ACAN_5end
chr15 89402048 89402061 CAGE_peak_8_at_ACAN_5end
chr15 89402148 89402159 CAGE_peak_6_at_ACAN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I088659 88659186 88660345 0.78 [{'connected_gene': 'ISG20', 'score': 16.03}, {'connected_gene': 'AEN', 'score': 11.96}, {'connected_gene': 'ENSG00000173867', 'score': 10.7}, {'connected_gene': 'MRPS11', 'score': 10.67}, {'connected_gene': 'MRPL46', 'score': 10.67}, {'connected_gene': 'HAPLN3', 'score': 10.26}, {'connected_gene': 'ACAN', 'score': 5.06}, {'connected_gene': 'PIR50540', 'score': 0.28}]
chr15 GH15I088708 88708347 88708828 0.2 [{'connected_gene': 'ACAN', 'score': 5.32}, {'connected_gene': 'PIR34138', 'score': 0.77}, {'connected_gene': 'PIR50540', 'score': 0.39}]
chr15 GH15I088828 88828067 88828126 0.5 [{'connected_gene': 'ACAN', 'score': 550.34}, {'connected_gene': 'GC15M088815', 'score': 0.44}, {'connected_gene': 'GC15P088853', 'score': 0.31}]
chr15 GH15I088803 88803387 88803446 0.79 [{'connected_gene': 'ACAN', 'score': 550.77}, {'connected_gene': 'GC15P088814', 'score': 550.77}, {'connected_gene': 'GC15P088806', 'score': 550.77}]
chr15 GH15I088804 88803633 88803692 0.84 [{'connected_gene': 'ACAN', 'score': 550.77}, {'connected_gene': 'GC15P088814', 'score': 550.77}, {'connected_gene': 'GC15P088806', 'score': 550.77}, {'connected_gene': 'GC15M088815', 'score': 0.37}]
chr15 GH15I088810 88810050 88811777 0.43 [{'connected_gene': 'LOC105370960', 'score': 11.44}, {'connected_gene': 'HAPLN3', 'score': 10.31}, {'connected_gene': 'AEN', 'score': 9.83}, {'connected_gene': 'ENSG00000173867', 'score': 9.08}, {'connected_gene': 'MRPL46', 'score': 9.07}, {'connected_gene': 'MRPS11', 'score': 9.07}, {'connected_gene': 'GC15M088815', 'score': 0.44}, {'connected_gene': 'ACAN', 'score': 0.44}]
chr15 GH15I088834 88834410 88834659 0.6 [{'connected_gene': 'GC15M088815', 'score': 0.37}, {'connected_gene': 'GC15P088853', 'score': 0.37}, {'connected_gene': 'ACAN', 'score': 0.29}]
chr15 GH15I088874 88874128 88875288 0.2 [{'connected_gene': 'GC15M088846', 'score': 0.77}, {'connected_gene': 'GC15P088887', 'score': 0.39}, {'connected_gene': 'ACAN', 'score': 0.19}]
chr15 GH15I088833 88833203 88834094 0.38 [{'connected_gene': 'GC15M088815', 'score': 0.39}, {'connected_gene': 'GC15P088853', 'score': 0.34}, {'connected_gene': 'ACAN', 'score': 0.29}]

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