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
ENST00000008527 [[107385141, 107385779], [107386564, 107386668], [107386742, 107386814], [107391071, 107391164], [107391265, 107391468], [107391692, 107391844], [107393328, 107393640], [107393719, 107393860], [107395057, 107395146], [107395541, 107395726], [107398883, 107399026], [107415861, 107415970], [107486581, 107487607]] [[107386564, 107386668], [107386742, 107386814], [107391071, 107391164], [107391265, 107391468], [107391692, 107391844], [107393328, 107393640], [107393719, 107393860], [107395057, 107395146], [107395541, 107395726], [107398883, 107399026], [107415861, 107415970], [107486581, 107486739]]
ENST00000550633 [[107466712, 107466832], [107486581, 107487291]] None
ENST00000552790 [[107385144, 107386814], [107391071, 107391184], [107391265, 107391468], [107391692, 107391844], [107393328, 107393640], [107393719, 107393860], [107395057, 107395146], [107395541, 107395726], [107398883, 107399026], [107415861, 107415970], [107436727, 107436956], [107443548, 107443630], [107443731, 107444137]] None
ENST00000549356 [[107386264, 107386668], [107386742, 107386814], [107391071, 107391164], [107391265, 107391317]] [[107386564, 107386668], [107386742, 107386814], [107391071, 107391164], [107391265, 107391317]]
ENST00000546722 [[107393566, 107393860], [107395057, 107395146], [107395541, 107395629]] None
NM_004075 [[107385141, 107385779], [107386564, 107386668], [107386742, 107386814], [107391071, 107391164], [107391265, 107391468], [107391692, 107391844], [107393328, 107393640], [107393719, 107393860], [107395057, 107395146], [107395541, 107395726], [107398883, 107399026], [107415861, 107415970], [107486581, 107487635]] [[107386564, 107386668], [107386742, 107386814], [107391071, 107391164], [107391265, 107391468], [107391692, 107391844], [107393328, 107393640], [107393719, 107393860], [107395057, 107395146], [107395541, 107395726], [107398883, 107399026], [107415861, 107415970], [107486581, 107486739]]
Promoter
Chrom Start End Description
chr12 107486810 107486828 CAGE_peak_9_at_CRY1_5end
chr12 107486857 107486873 CAGE_peak_10_at_CRY1_5end
chr12 107487287 107487302 CAGE_peak_3_at_CRY1_5end
chr12 107487303 107487335 CAGE_peak_1_at_CRY1_5end
chr12 107487338 107487358 CAGE_peak_2_at_CRY1_5end
chr12 107487562 107487570 CAGE_peak_7_at_CRY1_5end
chr12 107487578 107487590 CAGE_peak_6_at_CRY1_5end
chr12 107487604 107487635 CAGE_peak_4_at_CRY1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I106130 106130193 106143152 2.41 [{'connected_gene': 'NUAK1', 'score': 556.8}, {'connected_gene': 'CRY1', 'score': 18.32}, {'connected_gene': 'POLR3B', 'score': 9.29}, {'connected_gene': 'ENSG00000260329', 'score': 4.58}, {'connected_gene': 'ENSG00000257438', 'score': 0.29}]
chr12 GH12I106111 106111567 106115672 1.26 [{'connected_gene': 'NUAK1', 'score': 11.42}, {'connected_gene': 'CRY1', 'score': 10.18}, {'connected_gene': 'ENSG00000257438', 'score': 0.39}]
chr12 GH12I107014 107014123 107014272 0.54 [{'connected_gene': 'MTERF2', 'score': 17.42}, {'connected_gene': 'CRY1', 'score': 9.29}, {'connected_gene': 'GC12M107010', 'score': 0.77}, {'connected_gene': 'GC12M106992', 'score': 0.34}]
chr12 GH12I106994 106994656 106995691 0.38 [{'connected_gene': 'MTERF2', 'score': 4.79}, {'connected_gene': 'GC12M106992', 'score': 0.77}, {'connected_gene': 'GC12M107010', 'score': 0.34}, {'connected_gene': 'CRY1', 'score': 0.15}]
chr12 GH12I107079 107079200 107079800 0.87 [{'connected_gene': 'MTERF2', 'score': 4.51}, {'connected_gene': 'ENSG00000257548', 'score': 0.39}, {'connected_gene': 'CRY1', 'score': 0.39}, {'connected_gene': 'PIR33339', 'score': 0.26}]
chr12 GH12I106984 106984883 106988173 2.04 [{'connected_gene': 'MTERF2', 'score': 558.1}, {'connected_gene': 'GC12P106984', 'score': 550.77}, {'connected_gene': 'PWP1', 'score': 14.38}, {'connected_gene': 'PRDM4', 'score': 13.67}, {'connected_gene': 'ENSG00000260329', 'score': 9.19}, {'connected_gene': 'CRY1', 'score': 4.31}]
chr12 GH12I106581 106581938 106582175 0.55 [{'connected_gene': 'RFX4', 'score': 573.4}, {'connected_gene': 'CRY1', 'score': 9.85}, {'connected_gene': 'RIC8B', 'score': 3.74}, {'connected_gene': 'MTERF2', 'score': 1.85}, {'connected_gene': 'GC12P106517', 'score': 0.21}, {'connected_gene': 'LOC100287944', 'score': 0.08}]
chr12 GH12I106584 106582186 106582252 0.46 [{'connected_gene': 'RFX4', 'score': 550.77}, {'connected_gene': 'CRY1', 'score': 9.85}, {'connected_gene': 'GC12P106517', 'score': 0.2}, {'connected_gene': 'LOC100287944', 'score': 0.08}]
chr12 GH12I107948 107948456 107949369 0.2 [{'connected_gene': 'LOC390358', 'score': 5.62}, {'connected_gene': 'CRY1', 'score': 4.54}, {'connected_gene': 'GC12P107962', 'score': 0.39}, {'connected_gene': 'ENSG00000257129', 'score': 0.28}]
chr12 GH12I106345 106345800 106346092 1.05 [{'connected_gene': 'TCP11L2', 'score': 23.41}, {'connected_gene': 'MTERF2', 'score': 11.93}, {'connected_gene': 'CRY1', 'score': 11.63}, {'connected_gene': 'POLR3B', 'score': 0.39}, {'connected_gene': 'CKAP4', 'score': 0.26}]
chr12 GH12I106328 106328563 106329815 0.6 [{'connected_gene': 'TCP11L2', 'score': 10.33}, {'connected_gene': 'CRY1', 'score': 6.0}, {'connected_gene': 'CKAP4', 'score': 0.34}, {'connected_gene': 'POLR3B', 'score': 0.31}]
chr12 GH12I107090 107090822 107095124 2.25 [{'connected_gene': 'CRY1', 'score': 565.36}, {'connected_gene': 'ENSG00000257548', 'score': 550.77}, {'connected_gene': 'MTERF2', 'score': 13.2}, {'connected_gene': 'ENSG00000257398', 'score': 5.17}, {'connected_gene': 'PIR33339', 'score': 0.22}]
chr12 GH12I107042 107042501 107043695 0.38 [{'connected_gene': 'CRY1', 'score': 13.98}, {'connected_gene': 'MTERF2', 'score': 11.04}, {'connected_gene': 'PIR33339', 'score': 0.44}, {'connected_gene': 'ENSG00000257548', 'score': 0.23}]
chr12 GH12I106286 106286966 106290007 1.67 [{'connected_gene': 'CRY1', 'score': 12.74}, {'connected_gene': 'POLR3B', 'score': 10.25}, {'connected_gene': 'TCP11L2', 'score': 7.31}, {'connected_gene': 'MTERF2', 'score': 4.71}, {'connected_gene': 'GC12M106290', 'score': 0.77}, {'connected_gene': 'RNU7-94P', 'score': 0.44}, {'connected_gene': 'CKAP4', 'score': 0.37}]
chr12 GH12I107109 107109536 107111333 0.69 [{'connected_gene': 'CRY1', 'score': 15.63}, {'connected_gene': 'GC12M107118', 'score': 0.39}, {'connected_gene': 'ENSG00000257548', 'score': 0.37}]
chr12 GH12I107351 107351062 107353676 1.36 [{'connected_gene': 'BTBD11', 'score': 1.55}, {'connected_gene': 'CRY1', 'score': 1.47}, {'connected_gene': 'ASCL4', 'score': 1.3}, {'connected_gene': 'GC12M107333', 'score': 0.37}, {'connected_gene': 'GC12M107354', 'score': 0.34}]
chr12 GH12I107386 107386983 107387264 0.35 [{'connected_gene': 'BTBD11', 'score': 2.21}, {'connected_gene': 'CRY1', 'score': 1.9}, {'connected_gene': 'GC12P107396', 'score': 0.44}, {'connected_gene': 'GC12P107375', 'score': 0.39}]
chr12 GH12I107514 107514736 107516718 1.01 [{'connected_gene': 'PWP1', 'score': 11.49}, {'connected_gene': 'CRY1', 'score': 10.2}, {'connected_gene': 'PRDM4', 'score': 9.86}, {'connected_gene': 'ENSG00000200897', 'score': 9.84}, {'connected_gene': 'BTBD11', 'score': 5.6}, {'connected_gene': 'RNA5SP371', 'score': 0.31}, {'connected_gene': 'ENSG00000257579', 'score': 0.15}]
chr12 GH12I107104 107104601 107104972 0.92 [{'connected_gene': 'PWP1', 'score': 11.93}, {'connected_gene': 'PRDM4', 'score': 10.08}, {'connected_gene': 'MTERF2', 'score': 9.82}, {'connected_gene': 'ENSG00000257548', 'score': 0.39}, {'connected_gene': 'CRY1', 'score': 0.39}, {'connected_gene': 'GC12M107118', 'score': 0.37}]
chr12 GH12I107057 107057263 107057412 0.79 [{'connected_gene': 'PWP1', 'score': 12.78}, {'connected_gene': 'LOC101929162', 'score': 10.4}, {'connected_gene': 'CRY1', 'score': 10.16}, {'connected_gene': 'MTERF2', 'score': 10.09}, {'connected_gene': 'PRDM4', 'score': 9.98}, {'connected_gene': 'PIR33339', 'score': 0.34}, {'connected_gene': 'ENSG00000257548', 'score': 0.28}]
chr12 GH12I107030 107030379 107031730 0.31 [{'connected_gene': 'GC12M107024', 'score': 550.77}, {'connected_gene': 'MTERF2', 'score': 11.14}, {'connected_gene': 'TMEM263', 'score': 10.7}, {'connected_gene': 'PIR33339', 'score': 0.44}, {'connected_gene': 'CRY1', 'score': 0.21}]
chr12 GH12I107025 107025353 107030161 1.07 [{'connected_gene': 'GC12P107027', 'score': 550.77}, {'connected_gene': 'MTERF2', 'score': 15.18}, {'connected_gene': 'CRY1', 'score': 14.7}, {'connected_gene': 'GC12M107024', 'score': 0.77}]
chr12 GH12I108046 108046178 108047792 0.69 [{'connected_gene': 'PIR57656', 'score': 550.77}, {'connected_gene': 'PWP1', 'score': 16.12}, {'connected_gene': 'SART3', 'score': 14.4}, {'connected_gene': 'CRY1', 'score': 12.74}, {'connected_gene': 'PRDM4', 'score': 12.4}, {'connected_gene': 'GC12P108090', 'score': 0.26}]