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
ENST00000556679 [[31895474, 31895575], [31895731, 31895941], [31901386, 31901560], [31901643, 31901742], [31905095, 31905236], [31907007, 31907097], [31910735, 31910876], [31911001, 31911096], [31911192, 31911304], [31911420, 31911586], [31911693, 31911770], [31911911, 31912003], [31912503, 31912630], [31914149, 31914383], [31914783, 31914969], [31915124, 31915298], [31915518, 31915620], [31915721, 31915858], [31916150, 31916289], [31916606, 31916738], [31917019, 31917121], [31917196, 31917334], [31917826, 31917924], [31918062, 31918180], [31918395, 31918549], [31918644, 31918721], [31918920, 31919021], [31919117, 31919250], [31919331, 31919381], [31919651, 31919825]] [[31895529, 31895575], [31895731, 31895941], [31901386, 31901560], [31901643, 31901742], [31905095, 31905236], [31907007, 31907097], [31910735, 31910876], [31911001, 31911096], [31911192, 31911304], [31911420, 31911586], [31911693, 31911770], [31911911, 31912003], [31912503, 31912630], [31914149, 31914383], [31914783, 31914969], [31915124, 31915298], [31915518, 31915620], [31915721, 31915858], [31916150, 31916289], [31916606, 31916738], [31917019, 31917121], [31917196, 31917334], [31917826, 31917924], [31918062, 31918180], [31918395, 31918549], [31918644, 31918721], [31918920, 31919021], [31919117, 31919250], [31919331, 31919381], [31919651, 31919807]]
ENST00000475617 [[31913426, 31913477], [31913896, 31914062], [31914149, 31914383], [31914783, 31914918]] [[31913998, 31914062], [31914149, 31914383], [31914783, 31914918]]
ENST00000425368 [[31913485, 31914062], [31914149, 31914383], [31914783, 31914969], [31915124, 31915298], [31915518, 31915620], [31915721, 31915858], [31916150, 31916289], [31916606, 31916738], [31917019, 31917121], [31917196, 31917334], [31917826, 31917924], [31918062, 31918180], [31918395, 31918549], [31918644, 31918721], [31918920, 31919021], [31919117, 31919250], [31919331, 31919381], [31919651, 31919861]] [[31913998, 31914062], [31914149, 31914383], [31914783, 31914969], [31915124, 31915298], [31915518, 31915620], [31915721, 31915858], [31916150, 31916289], [31916606, 31916738], [31917019, 31917121], [31917196, 31917334], [31917826, 31917924], [31918062, 31918180], [31918395, 31918549], [31918644, 31918721], [31918920, 31919021], [31919117, 31919250], [31919331, 31919381], [31919651, 31919807]]
ENST00000472581 [[31913751, 31914062], [31914149, 31914897]] None
ENST00000460718 [[31913902, 31914062], [31914262, 31914383], [31914783, 31914969], [31915124, 31915298], [31915518, 31915620], [31915721, 31915746]] [[31913998, 31914062], [31914262, 31914383], [31914783, 31914859]]
ENST00000452035 [[31913998, 31914062], [31914149, 31914383], [31914783, 31914969], [31915124, 31915298], [31915518, 31915620], [31915721, 31915858], [31916150, 31916289], [31916606, 31916738], [31917019, 31917121], [31917196, 31917334], [31917826, 31917924], [31918062, 31918422]] None
ENST00000461483 [[31915057, 31915298], [31915518, 31915620], [31915721, 31916289], [31916606, 31916738], [31917019, 31917121], [31917196, 31917328]] None
ENST00000497841 [[31915573, 31915620], [31915721, 31915858], [31916150, 31916289], [31916606, 31916738], [31917019, 31917121], [31917196, 31917375]] None
ENST00000465750 [[31916134, 31916289], [31916606, 31916738], [31917019, 31917121], [31917196, 31917375]] None
ENST00000482886 [[31916236, 31916289], [31916606, 31917034]] None
ENST00000483004 [[31916732, 31916738], [31917019, 31917121], [31917196, 31917334], [31918395, 31918549], [31918644, 31918721], [31918920, 31919021], [31919117, 31919250], [31919331, 31919381], [31919651, 31919830]] [[31916732, 31916738], [31917019, 31917121], [31917196, 31917334], [31918395, 31918549], [31918644, 31918721], [31918920, 31919021], [31919117, 31919250], [31919331, 31919381], [31919651, 31919807]]
ENST00000467150 [[31916774, 31917121], [31917196, 31917375]] None
ENST00000467360 [[31917507, 31917924], [31918062, 31918549], [31918644, 31918721], [31918920, 31919021]] None
ENST00000482312 [[31918650, 31919021], [31919117, 31919250], [31919331, 31919381], [31919651, 31919861]] None
ENST00000498317 [[31919191, 31919250], [31919331, 31919861]] [[31919191, 31919250], [31919331, 31919477]]
NM_001710 [[31913720, 31914062], [31914149, 31914383], [31914783, 31914969], [31915124, 31915298], [31915518, 31915620], [31915721, 31915858], [31916150, 31916289], [31916606, 31916738], [31917019, 31917121], [31917196, 31917334], [31917826, 31917924], [31918062, 31918180], [31918395, 31918549], [31918644, 31918721], [31918920, 31919021], [31919117, 31919250], [31919331, 31919381], [31919651, 31919861]] [[31913998, 31914062], [31914149, 31914383], [31914783, 31914969], [31915124, 31915298], [31915518, 31915620], [31915721, 31915858], [31916150, 31916289], [31916606, 31916738], [31917019, 31917121], [31917196, 31917334], [31917826, 31917924], [31918062, 31918180], [31918395, 31918549], [31918644, 31918721], [31918920, 31919021], [31919117, 31919250], [31919331, 31919381], [31919651, 31919807]]
NM_001710 [[3423476, 3423818], [3423905, 3424139], [3424539, 3424725], [3424880, 3425054], [3425274, 3425376], [3425477, 3425614], [3425906, 3426045], [3426362, 3426494], [3426775, 3426877], [3426952, 3427090], [3427582, 3427680], [3427818, 3427936], [3428151, 3428305], [3428400, 3428477], [3428676, 3428777], [3428873, 3429006], [3429087, 3429137], [3429407, 3429617]] [[3423754, 3423818], [3423905, 3424139], [3424539, 3424725], [3424880, 3425054], [3425274, 3425376], [3425477, 3425614], [3425906, 3426045], [3426362, 3426494], [3426775, 3426877], [3426952, 3427090], [3427582, 3427680], [3427818, 3427936], [3428151, 3428305], [3428400, 3428477], [3428676, 3428777], [3428873, 3429006], [3429087, 3429137], [3429407, 3429563]]
NM_001710 [[3199308, 3199650], [3199737, 3199971], [3200371, 3200557], [3200712, 3200886], [3201106, 3201208], [3201309, 3201446], [3201738, 3201877], [3202194, 3202326], [3202607, 3202709], [3202784, 3202922], [3203414, 3203512], [3203650, 3203768], [3203983, 3204137], [3204232, 3204309], [3204508, 3204609], [3204705, 3204838], [3204919, 3204969], [3205239, 3205449]] [[3199586, 3199650], [3199737, 3199971], [3200371, 3200557], [3200712, 3200886], [3201106, 3201208], [3201309, 3201446], [3201738, 3201877], [3202194, 3202326], [3202607, 3202709], [3202784, 3202922], [3203414, 3203512], [3203650, 3203768], [3203983, 3204137], [3204232, 3204309], [3204508, 3204609], [3204705, 3204838], [3204919, 3204969], [3205239, 3205395]]
NM_001710 [[3293564, 3293906], [3293993, 3294227], [3294627, 3294813], [3294968, 3295142], [3295362, 3295464], [3295565, 3295702], [3295994, 3296133], [3296450, 3296582], [3296863, 3296965], [3297040, 3297178], [3297670, 3297768], [3297906, 3298024], [3298239, 3298393], [3298488, 3298565], [3298764, 3298865], [3298961, 3299094], [3299175, 3299225], [3299495, 3299705]] [[3293842, 3293906], [3293993, 3294227], [3294627, 3294813], [3294968, 3295142], [3295362, 3295464], [3295565, 3295702], [3295994, 3296133], [3296450, 3296582], [3296863, 3296965], [3297040, 3297178], [3297670, 3297768], [3297906, 3298024], [3298239, 3298393], [3298488, 3298565], [3298764, 3298865], [3298961, 3299094], [3299175, 3299225], [3299495, 3299651]]
NM_001710 [[3207514, 3207856], [3207943, 3208177], [3208577, 3208763], [3208918, 3209092], [3209312, 3209414], [3209515, 3209652], [3209944, 3210083], [3210400, 3210532], [3210813, 3210915], [3210990, 3211128], [3211620, 3211718], [3211856, 3211974], [3212189, 3212343], [3212438, 3212515], [3212714, 3212815], [3212911, 3213044], [3213125, 3213175], [3213445, 3213655]] [[3207792, 3207856], [3207943, 3208177], [3208577, 3208763], [3208918, 3209092], [3209312, 3209414], [3209515, 3209652], [3209944, 3210083], [3210400, 3210532], [3210813, 3210915], [3210990, 3211128], [3211620, 3211718], [3211856, 3211974], [3212189, 3212343], [3212438, 3212515], [3212714, 3212815], [3212911, 3213044], [3213125, 3213175], [3213445, 3213601]]
NM_001710 [[3256540, 3256882], [3256969, 3257203], [3257603, 3257789], [3257944, 3258118], [3258338, 3258440], [3258541, 3258678], [3258970, 3259109], [3259426, 3259558], [3259839, 3259941], [3260016, 3260154], [3260648, 3260746], [3260884, 3261002], [3261217, 3261361]] [[3256818, 3256882], [3256969, 3257203], [3257603, 3257789], [3257944, 3258118], [3258338, 3258440], [3258541, 3258678], [3258970, 3259109], [3259426, 3259558], [3259839, 3259941], [3260016, 3260154], [3260648, 3260746], [3260884, 3261002], [3261217, 3261361]]
NM_001710 [[3246430, 3246772], [3246859, 3247093], [3247493, 3247679], [3247834, 3248008], [3248228, 3248330], [3248431, 3248568], [3248860, 3248999], [3249316, 3249448], [3249729, 3249831], [3249906, 3250044], [3250536, 3250634], [3250772, 3250890], [3251105, 3251259], [3251354, 3251431], [3251630, 3251731], [3251827, 3251960], [3252041, 3252091], [3252361, 3252571]] [[3246708, 3246772], [3246859, 3247093], [3247493, 3247679], [3247834, 3248008], [3248228, 3248330], [3248431, 3248568], [3248860, 3248999], [3249316, 3249448], [3249729, 3249831], [3249906, 3250044], [3250536, 3250634], [3250772, 3250890], [3251105, 3251259], [3251354, 3251431], [3251630, 3251731], [3251827, 3251960], [3252041, 3252091], [3252361, 3252517]]
Promoter
Chrom Start End Description
chr6 31895263 31895274 CAGE_peak_5_at_C2_5end,CAGE_peak_9_at_CFB_5end
chr6 31895396 31895427 CAGE_peak_5_at_CFB_5end
chr6 31895438 31895449 CAGE_peak_8_at_CFB_5end
chr6 31895467 31895479 CAGE_peak_4_at_C2_5end,CAGE_peak_6_at_CFB_5end
chr6 31913800 31913811 CAGE_peak_7_at_CFB_5end
chr6 31913820 31913841 CAGE_peak_3_at_CFB_5end
chr6 31913863 31913882 CAGE_peak_1_at_CFB_5end
chr6 31913895 31913909 CAGE_peak_2_at_CFB_5end
chr6 31913924 31913935 CAGE_peak_4_at_CFB_5end
chr6 31914834 31914844 CAGE_peak_27_at_CFB_5end
chr6 31915216 31915228 CAGE_peak_10_at_CFB_5end
chr6 31916882 31916914 CAGE_peak_11_at_CFB_5end
chr6 31917065 31917076 CAGE_peak_12_at_CFB_5end
chr6 31918397 31918412 CAGE_peak_15_at_CFB_5end
chr6 31919711 31919718 CAGE_peak_37_at_CFB_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I032089 32089752 32089900 0.38 [{'connected_gene': 'SKIV2L', 'score': 15.03}, {'connected_gene': 'TNXB', 'score': 12.24}, {'connected_gene': 'ATF6B', 'score': 12.2}, {'connected_gene': 'FKBPL', 'score': 11.55}, {'connected_gene': 'PPT2', 'score': 11.5}, {'connected_gene': 'PRRT1', 'score': 11.5}, {'connected_gene': 'EGFL8', 'score': 11.48}, {'connected_gene': 'AGPAT1', 'score': 11.46}, {'connected_gene': 'RNF5', 'score': 11.46}, {'connected_gene': 'CFB', 'score': 10.61}, {'connected_gene': 'ENSG00000244255', 'score': 10.59}, {'connected_gene': 'C2', 'score': 10.58}, {'connected_gene': 'RNA5SP206', 'score': 0.39}]
chr6 GH06I031944 31944132 31950944 1.75 [{'connected_gene': 'CFB', 'score': 550.77}, {'connected_gene': 'SKIV2L', 'score': 45.37}, {'connected_gene': 'ATF6B', 'score': 29.45}, {'connected_gene': 'CSNK2B', 'score': 23.39}, {'connected_gene': 'STK19', 'score': 22.35}, {'connected_gene': 'BAG6', 'score': 20.35}, {'connected_gene': 'CCHCR1', 'score': 19.38}, {'connected_gene': 'STK19B', 'score': 19.22}, {'connected_gene': 'HLA-DRB1', 'score': 19.14}, {'connected_gene': 'LY6G5B', 'score': 17.78}, {'connected_gene': 'C4A', 'score': 15.96}, {'connected_gene': 'DXO', 'score': 15.89}, {'connected_gene': 'LSM2', 'score': 13.7}, {'connected_gene': 'DDX39B', 'score': 13.64}, {'connected_gene': 'MSH5', 'score': 13.53}, {'connected_gene': 'VARS', 'score': 12.72}, {'connected_gene': 'HLA-DQA2', 'score': 12.38}, {'connected_gene': 'C2', 'score': 12.23}, {'connected_gene': 'GPANK1', 'score': 11.59}, {'connected_gene': 'EHMT2', 'score': 11.23}, {'connected_gene': 'ZBTB12', 'score': 11.23}, {'connected_gene': 'NFKBIL1', 'score': 10.75}, {'connected_gene': 'PBX2', 'score': 10.26}, {'connected_gene': 'AGER', 'score': 5.19}, {'connected_gene': 'FKBPL', 'score': 4.14}, {'connected_gene': 'MIR1236', 'score': 0.44}, {'connected_gene': 'ENSG00000244255', 'score': 0.37}]
chr6 GH06I031861 31861887 31866344 2.14 [{'connected_gene': 'NEU1', 'score': 550.77}, {'connected_gene': 'LY6G5B', 'score': 63.01}, {'connected_gene': 'LSM2', 'score': 60.7}, {'connected_gene': 'DDX39B', 'score': 59.24}, {'connected_gene': 'ATF6B', 'score': 55.69}, {'connected_gene': 'GPANK1', 'score': 39.0}, {'connected_gene': 'MSH5', 'score': 33.99}, {'connected_gene': 'TCF19', 'score': 31.64}, {'connected_gene': 'CSNK2B', 'score': 30.7}, {'connected_gene': 'MICA', 'score': 28.57}, {'connected_gene': 'GTF2H4', 'score': 28.57}, {'connected_gene': 'SKIV2L', 'score': 28.41}, {'connected_gene': 'PBX2', 'score': 26.86}, {'connected_gene': 'TNXB', 'score': 23.47}, {'connected_gene': 'C6orf47', 'score': 22.77}, {'connected_gene': 'SAPCD1', 'score': 22.0}, {'connected_gene': 'BAG6', 'score': 20.69}, {'connected_gene': 'PPT2', 'score': 19.86}, {'connected_gene': 'C4A', 'score': 18.64}, {'connected_gene': 'STK19B', 'score': 14.75}, {'connected_gene': 'LY6G5C', 'score': 12.41}, {'connected_gene': 'NFKBIL1', 'score': 12.34}, {'connected_gene': 'PRRT1', 'score': 12.22}, {'connected_gene': 'NELFE', 'score': 12.16}, {'connected_gene': 'SNORD52', 'score': 11.85}, {'connected_gene': 'C6orf48', 'score': 11.85}, {'connected_gene': 'VARS', 'score': 11.85}, {'connected_gene': 'DXO', 'score': 11.42}, {'connected_gene': 'C2', 'score': 11.32}, {'connected_gene': 'ENSG00000244255', 'score': 11.24}, {'connected_gene': 'CFB', 'score': 11.21}, {'connected_gene': 'CCHCR1', 'score': 10.96}, {'connected_gene': 'VWA7', 'score': 10.79}, {'connected_gene': 'SAPCD1-AS1', 'score': 10.76}, {'connected_gene': 'MSH5-SAPCD1', 'score': 10.73}, {'connected_gene': 'RNU6-850P', 'score': 10.52}, {'connected_gene': 'MIR1236', 'score': 10.47}, {'connected_gene': 'RPL3P2', 'score': 10.28}, {'connected_gene': 'EHMT2', 'score': 10.11}, {'connected_gene': 'FKBPL', 'score': 9.93}, {'connected_gene': 'CLIC1', 'score': 9.76}, {'connected_gene': 'HLA-B', 'score': 5.3}, {'connected_gene': 'AGER', 'score': 4.15}, {'connected_gene': 'SLC44A4', 'score': 0.39}]
chr6 GH06I032524 32524517 32524800 0.65 [{'connected_gene': 'HLA-DRB1', 'score': 67.7}, {'connected_gene': 'HLA-DRB5', 'score': 38.02}, {'connected_gene': 'HLA-DQA2', 'score': 30.58}, {'connected_gene': 'HLA-DRB6', 'score': 13.79}, {'connected_gene': 'HLA-DQA1', 'score': 8.9}, {'connected_gene': 'SYNGAP1', 'score': 5.39}, {'connected_gene': 'CFB', 'score': 5.08}, {'connected_gene': 'PSMB8', 'score': 2.42}, {'connected_gene': 'HLA-DMA', 'score': 1.79}, {'connected_gene': 'HLA-DMB', 'score': 1.6}, {'connected_gene': 'HLA-DRA', 'score': 1.58}, {'connected_gene': 'BRD2', 'score': 1.29}, {'connected_gene': 'GC06M032524', 'score': 0.77}]
chr6 GH06I031952 31952444 31952633 0.8 [{'connected_gene': 'MIR1236', 'score': 0.77}, {'connected_gene': 'NELFE', 'score': 0.44}, {'connected_gene': 'CFB', 'score': 0.44}]

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