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
ENST00000582328 [[56295908, 56296178], [56315097, 56315195], [56315912, 56316100], [56320338, 56320416], [56326420, 56326538], [56326926, 56327056], [56327775, 56327982], [56329542, 56329867], [56332171, 56332332], [56342082, 56342335], [56343513, 56343687], [56344709, 56344947], [56345147, 56345587]] [[56320340, 56320416], [56326420, 56326538], [56326926, 56327056], [56327775, 56327982], [56329542, 56329867], [56332171, 56332332], [56342082, 56342335], [56343513, 56343687], [56344709, 56344947], [56345147, 56345355]]
ENST00000421678 [[56315786, 56316100], [56320338, 56320416], [56326420, 56326538], [56326926, 56327056], [56327775, 56327982], [56329542, 56329867], [56332171, 56332332], [56342082, 56342335], [56343513, 56343687], [56344709, 56344947], [56345147, 56345878]] [[56320340, 56320416], [56326420, 56326538], [56326926, 56327056], [56327775, 56327982], [56329542, 56329867], [56332171, 56332332], [56342082, 56342335], [56343513, 56343687], [56344709, 56344947], [56345147, 56345355]]
ENST00000262290 [[56315786, 56316100], [56320338, 56320416], [56321354, 56321442], [56324838, 56324999], [56326420, 56326538], [56326926, 56327056], [56327775, 56327982], [56329542, 56329867], [56332171, 56332332], [56342082, 56342335], [56343513, 56343687], [56344709, 56344947], [56345147, 56345879]] [[56320340, 56320416], [56321354, 56321442], [56324838, 56324999], [56326420, 56326538], [56326926, 56327056], [56327775, 56327982], [56329542, 56329867], [56332171, 56332332], [56342082, 56342335], [56343513, 56343687], [56344709, 56344947], [56345147, 56345355]]
ENST00000543544 [[56315951, 56316100], [56320338, 56320416], [56324838, 56324999], [56326420, 56326538], [56326926, 56327056], [56327775, 56327982], [56329542, 56329867], [56332171, 56332332], [56342082, 56342335], [56343513, 56343687], [56344709, 56344947], [56345147, 56345503]] [[56324851, 56324999], [56326420, 56326538], [56326926, 56327056], [56327775, 56327982], [56329542, 56329867], [56332171, 56332332], [56342082, 56342335], [56343513, 56343687], [56344709, 56344947], [56345147, 56345355]]
ENST00000578403 [[56316031, 56316100], [56320338, 56320416], [56321354, 56321442], [56324838, 56324999], [56326420, 56326538], [56326926, 56327056], [56327775, 56328614]] None
ENST00000582684 [[56316061, 56316100], [56320338, 56320416], [56321354, 56321819]] None
ENST00000580346 [[56316061, 56316100], [56320338, 56320416], [56326420, 56326538], [56326926, 56327056], [56327775, 56328653]] None
ENST00000578643 [[56316061, 56316100], [56320338, 56321442], [56324838, 56324999], [56326420, 56327056], [56327775, 56329206]] None
ENST00000581008 [[56316075, 56316100], [56320238, 56320416], [56324838, 56324999], [56326420, 56326538], [56326926, 56327029]] [[56324851, 56324999], [56326420, 56326538], [56326926, 56327029]]
ENST00000580890 [[56326458, 56326538], [56326926, 56327056], [56327775, 56327840], [56329650, 56329867], [56332171, 56332332], [56342082, 56342335], [56343513, 56343687], [56344709, 56344947], [56345147, 56345799]] [[56326458, 56326538], [56326926, 56327056], [56327775, 56327840], [56329650, 56329663]]
ENST00000389576 [[56329542, 56329867], [56331913, 56331972], [56332171, 56332332], [56342082, 56342335], [56343513, 56343687], [56344709, 56344947], [56345147, 56345879]] [[56329542, 56329867], [56331913, 56331942]]
NM_001160102 [[56315786, 56316100], [56320338, 56320416], [56326420, 56326538], [56326926, 56327056], [56327775, 56327982], [56329542, 56329867], [56332171, 56332332], [56342082, 56342335], [56343513, 56343687], [56344709, 56344947], [56345147, 56345879]] [[56320340, 56320416], [56326420, 56326538], [56326926, 56327056], [56327775, 56327982], [56329542, 56329867], [56332171, 56332332], [56342082, 56342335], [56343513, 56343687], [56344709, 56344947], [56345147, 56345355]]
NR_027647 [[56315786, 56316100], [56320338, 56320416], [56324838, 56324999], [56326420, 56326538], [56326926, 56327056], [56327775, 56327982], [56329542, 56329867], [56332171, 56332332], [56342082, 56342335], [56343513, 56343687], [56344709, 56344947], [56345147, 56345879]] None
NM_006151 [[56315786, 56316100], [56320338, 56320416], [56321354, 56321442], [56324838, 56324999], [56326420, 56326538], [56326926, 56327056], [56327775, 56327982], [56329542, 56329867], [56332171, 56332332], [56342082, 56342335], [56343513, 56343687], [56344709, 56344947], [56345147, 56345879]] [[56320340, 56320416], [56321354, 56321442], [56324838, 56324999], [56326420, 56326538], [56326926, 56327056], [56327775, 56327982], [56329542, 56329867], [56332171, 56332332], [56342082, 56342335], [56343513, 56343687], [56344709, 56344947], [56345147, 56345355]]
Promoter
Chrom Start End Description
chr17 56315898 56315927 CAGE_peak_3_at_LPO_5end
chr17 56315936 56315960 CAGE_peak_2_at_LPO_5end
chr17 56315998 56316003 CAGE_peak_4_at_LPO_5end
chr17 56316054 56316067 CAGE_peak_1_at_LPO_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I058287 58287801 58291400 1 [{'connected_gene': 'TSPOAP1', 'score': 20.69}, {'connected_gene': 'SUPT4H1', 'score': 15.64}, {'connected_gene': 'LPO', 'score': 10.71}, {'connected_gene': 'HSF5', 'score': 10.69}, {'connected_gene': 'RNF43', 'score': 10.65}, {'connected_gene': 'MPO', 'score': 0.44}, {'connected_gene': 'GC17P058303', 'score': 0.39}]
chr17 GH17I058232 58232152 58233904 1.29 [{'connected_gene': 'EPX', 'score': 5.36}, {'connected_gene': 'SUPT4H1', 'score': 1.36}, {'connected_gene': 'LPO', 'score': 0.39}, {'connected_gene': 'LOC105371841', 'score': 0.39}, {'connected_gene': 'MPO', 'score': 0.23}]
chr17 GH17I058178 58178760 58178889 0.2 [{'connected_gene': 'MSX2P1', 'score': 12.4}, {'connected_gene': 'OR4D1', 'score': 12.35}, {'connected_gene': 'LPO', 'score': 9.95}, {'connected_gene': 'GC17M057928', 'score': 0.77}, {'connected_gene': 'OR4D2', 'score': 0.39}]
chr17 GH17I058249 58249335 58250310 1.43 [{'connected_gene': 'MKS1', 'score': 11.43}, {'connected_gene': 'EPX', 'score': 10.45}, {'connected_gene': 'LOC105371841', 'score': 0.31}, {'connected_gene': 'LPO', 'score': 0.29}, {'connected_gene': 'MPO', 'score': 0.29}]
chr17 GH17I058387 58387440 58388989 1.22 [{'connected_gene': 'MKS1', 'score': 25.07}, {'connected_gene': 'SRSF1', 'score': 16.03}, {'connected_gene': 'RNF43', 'score': 11.85}, {'connected_gene': 'SUPT4H1', 'score': 11.19}, {'connected_gene': 'SKA2', 'score': 11.11}, {'connected_gene': 'HSF5', 'score': 10.99}, {'connected_gene': 'PPM1E', 'score': 10.76}, {'connected_gene': 'LPO', 'score': 10.4}, {'connected_gene': 'DYNLL2', 'score': 9.83}, {'connected_gene': 'TRIM37', 'score': 9.41}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.21}]
chr17 GH17I058218 58218401 58220349 2.07 [{'connected_gene': 'MKS1', 'score': 564.43}, {'connected_gene': 'LPO', 'score': 550.77}, {'connected_gene': 'LOC105371841', 'score': 550.77}, {'connected_gene': 'TEX14', 'score': 10.77}]
chr17 GH17I058244 58244952 58247220 0.54 [{'connected_gene': 'MKS1', 'score': 5.8}, {'connected_gene': 'LPO', 'score': 0.31}, {'connected_gene': 'LOC105371841', 'score': 0.31}, {'connected_gene': 'MPO', 'score': 0.28}]
chr17 GH17I058394 58393349 58393829 0.2 [{'connected_gene': 'RNF43', 'score': 20.48}, {'connected_gene': 'SUPT4H1', 'score': 10.95}, {'connected_gene': 'TSPOAP1', 'score': 10.8}, {'connected_gene': 'MKS1', 'score': 10.1}, {'connected_gene': 'LPO', 'score': 9.48}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.2}]
chr17 GH17I058385 58385322 58385654 0.56 [{'connected_gene': 'RNF43', 'score': 11.83}, {'connected_gene': 'SUPT4H1', 'score': 11.21}, {'connected_gene': 'HSF5', 'score': 10.99}, {'connected_gene': 'LPO', 'score': 10.4}, {'connected_gene': 'TRIM37', 'score': 6.61}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.21}]
chr17 GH17I058407 58407253 58409926 0.49 [{'connected_gene': 'TRIM37', 'score': 27.94}, {'connected_gene': 'SUPT4H1', 'score': 11.35}, {'connected_gene': 'TSPOAP1', 'score': 11.24}, {'connected_gene': 'SRSF1', 'score': 11.2}, {'connected_gene': 'HSF5', 'score': 11.11}, {'connected_gene': 'LPO', 'score': 9.58}, {'connected_gene': 'MTMR4', 'score': 9.04}, {'connected_gene': 'RNF43', 'score': 0.44}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.18}]
chr17 GH17I058406 58406833 58407091 0.38 [{'connected_gene': 'TRIM37', 'score': 27.9}, {'connected_gene': 'SUPT4H1', 'score': 11.29}, {'connected_gene': 'SRSF1', 'score': 11.2}, {'connected_gene': 'HSF5', 'score': 11.11}, {'connected_gene': 'TSPOAP1', 'score': 10.53}, {'connected_gene': 'LPO', 'score': 9.58}, {'connected_gene': 'MTMR4', 'score': 9.03}, {'connected_gene': 'RNF43', 'score': 0.39}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.18}]
chr17 GH17I058405 58405300 58406305 0.7 [{'connected_gene': 'TRIM37', 'score': 29.34}, {'connected_gene': 'SUPT4H1', 'score': 11.29}, {'connected_gene': 'HSF5', 'score': 11.11}, {'connected_gene': 'TSPOAP1', 'score': 10.53}, {'connected_gene': 'LPO', 'score': 9.58}, {'connected_gene': 'MTMR4', 'score': 9.03}, {'connected_gene': 'RNF43', 'score': 0.39}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.18}]
chr17 GH17I058400 58400881 58404651 0.95 [{'connected_gene': 'TRIM37', 'score': 29.08}, {'connected_gene': 'RAD51C', 'score': 25.88}, {'connected_gene': 'SUPT4H1', 'score': 11.31}, {'connected_gene': 'HSF5', 'score': 11.1}, {'connected_gene': 'TSPOAP1', 'score': 10.63}, {'connected_gene': 'LPO', 'score': 9.58}, {'connected_gene': 'MTMR4', 'score': 9.1}, {'connected_gene': 'RNF43', 'score': 9.06}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.18}]
chr17 GH17I058393 58393876 58396041 1.07 [{'connected_gene': 'TRIM37', 'score': 28.8}, {'connected_gene': 'RAD51C', 'score': 25.88}, {'connected_gene': 'RNF43', 'score': 20.41}, {'connected_gene': 'SUPT4H1', 'score': 10.95}, {'connected_gene': 'TSPOAP1', 'score': 10.8}, {'connected_gene': 'MKS1', 'score': 10.1}, {'connected_gene': 'LPO', 'score': 9.48}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.2}]
chr17 GH17I058374 58374782 58385131 1.42 [{'connected_gene': 'TRIM37', 'score': 28.87}, {'connected_gene': 'RAD51C', 'score': 25.88}, {'connected_gene': 'RNF43', 'score': 20.64}, {'connected_gene': 'SRSF1', 'score': 16.03}, {'connected_gene': 'SUPT4H1', 'score': 11.9}, {'connected_gene': 'MKS1', 'score': 11.01}, {'connected_gene': 'HSF5', 'score': 10.98}, {'connected_gene': 'LPO', 'score': 10.39}, {'connected_gene': 'EPX', 'score': 10.24}, {'connected_gene': 'MSX2P1', 'score': 9.4}, {'connected_gene': 'OR4D1', 'score': 9.4}, {'connected_gene': 'MTMR4', 'score': 9.21}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.23}]
chr17 GH17I058392 58392520 58393240 0.31 [{'connected_gene': 'TRIM37', 'score': 29.1}, {'connected_gene': 'RNF43', 'score': 20.43}, {'connected_gene': 'SUPT4H1', 'score': 11.51}, {'connected_gene': 'TSPOAP1', 'score': 10.8}, {'connected_gene': 'HSF5', 'score': 10.42}, {'connected_gene': 'MKS1', 'score': 10.1}, {'connected_gene': 'LPO', 'score': 9.48}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.2}]
chr17 GH17I058284 58284175 58285400 1.12 [{'connected_gene': 'MPO', 'score': 561.7}, {'connected_gene': 'TSPOAP1', 'score': 19.34}, {'connected_gene': 'MKS1', 'score': 10.94}, {'connected_gene': 'LPO', 'score': 10.74}, {'connected_gene': 'RNF43', 'score': 10.49}, {'connected_gene': 'SUPT4H1', 'score': 10.48}, {'connected_gene': 'SRSF1', 'score': 2.23}, {'connected_gene': 'GC17P058303', 'score': 0.37}]
chr17 GH17I058217 58217880 58217969 0.2 [{'connected_gene': 'LPO', 'score': 550.77}, {'connected_gene': 'MKS1', 'score': 550.77}, {'connected_gene': 'ENSG00000278627', 'score': 0.39}]
chr17 GH17I058242 58242096 58242155 0.5 [{'connected_gene': 'LPO', 'score': 550.34}, {'connected_gene': 'LOC105371841', 'score': 0.34}, {'connected_gene': 'MPO', 'score': 0.26}]
chr17 GH17I058136 58136800 58136929 0.6 [{'connected_gene': 'OR4D2', 'score': 11.95}, {'connected_gene': 'EPX', 'score': 10.83}, {'connected_gene': 'SRSF1', 'score': 10.14}, {'connected_gene': 'LPO', 'score': 9.96}, {'connected_gene': 'OR4D1', 'score': 0.39}, {'connected_gene': 'GC17P058101', 'score': 0.28}, {'connected_gene': 'GC17M057928', 'score': 0.25}]
chr17 GH17I058184 58184227 58184945 0.74 [{'connected_gene': 'GC17M057928', 'score': 550.77}, {'connected_gene': 'MSX2P1', 'score': 11.52}, {'connected_gene': 'OR4D1', 'score': 11.49}, {'connected_gene': 'MKS1', 'score': 10.98}, {'connected_gene': 'LPO', 'score': 10.58}, {'connected_gene': 'SUPT4H1', 'score': 4.88}, {'connected_gene': 'EPX', 'score': 0.44}]

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