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
ENST00000261488 [[43787653, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987124], [44058144, 44058288], [44241577, 44241680], [44360787, 44361044]] [[43788125, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987050]]
ENST00000412891 [[43787703, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987124], [44058144, 44058288], [44184018, 44184056]] [[43788125, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987050]]
ENST00000540032 [[43894986, 43895235], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935083, 43935213]] [[43895227, 43895235], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934014]]
ENST00000482207 [[43933867, 43934193], [43935414, 43935501]] None
NM_001127615 [[43787268, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987124], [44058144, 44058288], [44184018, 44184055], [44203568, 44203613]] [[43788125, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987050]]
NM_001347966 [[43787268, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987124], [44058144, 44058288], [44241614, 44241680], [44335864, 44335973], [44360787, 44361116]] [[43788125, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987050]]
NM_017993 [[43787268, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987124], [44058144, 44058288], [44241577, 44241680], [44360787, 44361116]] [[43788125, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987050]]
NM_001242863 [[43787268, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987124], [44058144, 44058288], [44241603, 44241680], [44360787, 44361116]] [[43788125, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987050]]
NM_001347970 [[43787268, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [44058144, 44058288], [44241603, 44241680], [44360787, 44361116]] [[43788125, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986142]]
NM_001347967 [[43787268, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987124], [44241603, 44241680], [44360787, 44361116]] [[43788125, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987050]]
NM_001347964 [[43787268, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987124], [44058144, 44058288], [44204730, 44204789], [44241614, 44241680], [44360787, 44361116]] [[43788125, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987050]]
NM_001347968 [[43787268, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987124], [44011452, 44011504], [44058144, 44058288], [44241614, 44241680], [44360787, 44361116]] [[43788125, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987050]]
NM_001347969 [[43787268, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987124], [44058144, 44058288], [44241614, 44241680], [44360787, 44361116]] [[43788125, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987050]]
NM_001347971 [[43787268, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [44058144, 44058288], [44241614, 44241680], [44360787, 44361116]] [[43788125, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986142]]
NM_001347963 [[43787268, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987124], [44241614, 44241680], [44360787, 44361116]] [[43788125, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987124], [44241614, 44241645]]
NM_001347965 [[43787268, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987124], [44058144, 44058288], [44360787, 44361116]] [[43788125, 43788257], [43798188, 43798274], [43810771, 43810874], [43839533, 43839590], [43843605, 43843713], [43872481, 43872666], [43896519, 43896637], [43900554, 43900661], [43918673, 43918886], [43930054, 43930288], [43933986, 43934193], [43935414, 43935588], [43986051, 43986189], [43986980, 43987050]]
NR_145132 [[44359763, 44360341], [44360787, 44361116]] None
Promoter
Chrom Start End Description
chr13 44360949 44360960 CAGE_peak_6_at_ENOX1_5end
chr13 44361004 44361022 CAGE_peak_3_at_ENOX1_5end
chr13 44361025 44361052 CAGE_peak_1_at_ENOX1_5end
chr13 44361058 44361095 CAGE_peak_2_at_ENOX1_5end
chr13 44361100 44361121 CAGE_peak_4_at_ENOX1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I044046 44046522 44046548 0.25 [{'connected_gene': 'ENOX1', 'score': 1.62}, {'connected_gene': 'GC13P044070', 'score': 0.34}, {'connected_gene': 'LOC105370182', 'score': 0.29}]
chr13 GH13I043433 43433081 43434727 0.46 [{'connected_gene': 'ENOX1', 'score': 5.83}, {'connected_gene': 'ENOX1-AS2', 'score': 0.39}, {'connected_gene': 'RPL36P19', 'score': 0.28}]
chr13 GH13I043514 43514425 43514574 0.2 [{'connected_gene': 'ENOX1', 'score': 4.74}, {'connected_gene': 'ENOX1-AS1', 'score': 0.31}, {'connected_gene': 'ENOX1-AS2', 'score': 0.2}]
chr13 GH13I043541 43541052 43541200 0.24 [{'connected_gene': 'ENOX1', 'score': 2.41}, {'connected_gene': 'ENOX1-AS1', 'score': 0.77}, {'connected_gene': 'ENOX1-AS2', 'score': 0.16}]
chr13 GH13I043663 43663103 43663240 0.22 [{'connected_gene': 'ENOX1', 'score': 6.93}, {'connected_gene': 'GC13M043559', 'score': 0.44}, {'connected_gene': 'ENOX1-AS1', 'score': 0.13}]
chr13 GH13I043640 43640477 43640854 0.34 [{'connected_gene': 'ENOX1', 'score': 5.83}, {'connected_gene': 'GC13M043559', 'score': 0.29}, {'connected_gene': 'ENOX1-AS1', 'score': 0.15}]
chr13 GH13I043783 43783409 43788294 2.33 [{'connected_gene': 'ENOX1', 'score': 564.48}, {'connected_gene': 'ENSG00000270522', 'score': 550.77}, {'connected_gene': 'GC13P043776', 'score': 0.44}]
chr13 GH13I043356 43356733 43358542 0.4 [{'connected_gene': 'ENOX1', 'score': 4.59}, {'connected_gene': 'GC13M043326', 'score': 0.39}, {'connected_gene': 'GC13P043328', 'score': 0.31}]
chr13 GH13I043362 43362686 43365683 0.8 [{'connected_gene': 'ENOX1', 'score': 4.35}, {'connected_gene': 'GC13M043326', 'score': 0.44}, {'connected_gene': 'GC13P043328', 'score': 0.28}]
chr13 GH13I043685 43685657 43687565 0.91 [{'connected_gene': 'CCDC122', 'score': 8.36}, {'connected_gene': 'ENOX1', 'score': 4.31}, {'connected_gene': 'GC13M043559', 'score': 0.37}, {'connected_gene': 'GC13P043776', 'score': 0.17}]
chr13 GH13I043729 43729787 43731512 0.31 [{'connected_gene': 'CCDC122', 'score': 7.29}, {'connected_gene': 'GC13P043776', 'score': 0.25}, {'connected_gene': 'GC13M043559', 'score': 0.22}, {'connected_gene': 'ENOX1', 'score': 0.22}]
chr13 GH13I043767 43767099 43767907 0.6 [{'connected_gene': 'CCDC122', 'score': 10.36}, {'connected_gene': 'GC13P043776', 'score': 0.44}, {'connected_gene': 'ENOX1', 'score': 0.37}, {'connected_gene': 'GC13M043559', 'score': 0.15}]
chr13 GH13I043804 43804267 43806181 1.37 [{'connected_gene': 'CCDC122', 'score': 10.7}, {'connected_gene': 'LACC1', 'score': 7.46}, {'connected_gene': 'ENOX1', 'score': 3.17}, {'connected_gene': 'LOC105370181', 'score': 0.44}, {'connected_gene': 'GC13P043791', 'score': 0.39}]
chr13 GH13I043307 43307250 43308867 1.07 [{'connected_gene': 'CCDC122', 'score': 10.48}, {'connected_gene': 'LACC1', 'score': 10.48}, {'connected_gene': 'GC13P043321', 'score': 0.39}, {'connected_gene': 'GC13M043287', 'score': 0.37}, {'connected_gene': 'ENOX1', 'score': 0.04}]
chr13 GH13I043300 43300755 43303973 0.86 [{'connected_gene': 'CCDC122', 'score': 10.48}, {'connected_gene': 'LACC1', 'score': 10.48}, {'connected_gene': 'GC13M043287', 'score': 0.39}, {'connected_gene': 'GC13P043321', 'score': 0.37}, {'connected_gene': 'ENOX1', 'score': 0.04}]
chr13 GH13I043664 43664205 43665399 0.76 [{'connected_gene': 'CCDC122', 'score': 9.3}, {'connected_gene': 'GC13M043559', 'score': 0.44}, {'connected_gene': 'ENOX1-AS1', 'score': 0.13}, {'connected_gene': 'ENOX1', 'score': 0.13}]
chr13 GH13I043862 43862734 43862917 0.22 [{'connected_gene': 'LACC1', 'score': 5.57}, {'connected_gene': 'ENOX1', 'score': 1.74}, {'connected_gene': 'ENSG00000274001', 'score': 0.37}, {'connected_gene': 'CCDC122', 'score': 0.37}, {'connected_gene': 'LOC105370181', 'score': 0.23}]
chr13 GH13I043425 43425195 43425695 0.31 [{'connected_gene': 'ENOX1-AS2', 'score': 0.34}, {'connected_gene': 'RPL36P19', 'score': 0.29}, {'connected_gene': 'ENOX1', 'score': 0.05}]
chr13 GH13I043545 43545080 43545967 0.46 [{'connected_gene': 'ENOX1-AS1', 'score': 550.77}, {'connected_gene': 'GC13M043559', 'score': 0.13}, {'connected_gene': 'ENOX1', 'score': 0.07}]
chr13 GH13I043572 43572212 43575050 0.69 [{'connected_gene': 'ENOX1-AS1', 'score': 0.31}, {'connected_gene': 'GC13M043559', 'score': 0.15}, {'connected_gene': 'ENOX1', 'score': 0.08}]
chr13 GH13I043529 43529945 43530054 0.46 [{'connected_gene': 'ENOX1-AS1', 'score': 0.39}, {'connected_gene': 'ENOX1-AS2', 'score': 0.18}, {'connected_gene': 'ENOX1', 'score': 0.07}]
chr13 GH13I043515 43515626 43517223 0.58 [{'connected_gene': 'ENOX1-AS1', 'score': 0.31}, {'connected_gene': 'ENOX1-AS2', 'score': 0.2}, {'connected_gene': 'ENOX1', 'score': 0.06}]
chr13 GH13I043389 43389967 43391200 0.46 [{'connected_gene': 'RPL36P19', 'score': 0.77}, {'connected_gene': 'GC13M043326', 'score': 0.37}, {'connected_gene': 'ENOX1', 'score': 0.05}]
chr13 GH13I043388 43388093 43389454 0.72 [{'connected_gene': 'RPL36P19', 'score': 0.44}, {'connected_gene': 'GC13M043326', 'score': 0.37}, {'connected_gene': 'ENOX1', 'score': 0.05}]
chr13 GH13I043422 43422225 43422374 0.2 [{'connected_gene': 'RPL36P19', 'score': 0.31}, {'connected_gene': 'ENOX1-AS2', 'score': 0.31}, {'connected_gene': 'ENOX1', 'score': 0.05}]
chr13 GH13I043396 43396621 43398055 0.38 [{'connected_gene': 'RPL36P19', 'score': 0.77}, {'connected_gene': 'ENOX1-AS2', 'score': 0.23}, {'connected_gene': 'ENOX1', 'score': 0.05}]
chr13 GH13I043284 43284265 43284454 0.52 [{'connected_gene': 'GC13M043287', 'score': 0.44}, {'connected_gene': 'GC13M043271', 'score': 0.44}, {'connected_gene': 'ENOX1', 'score': 0.03}]
chr13 GH13I043761 43761378 43762436 0.2 [{'connected_gene': 'GC13P043776', 'score': 0.39}, {'connected_gene': 'ENOX1', 'score': 0.31}, {'connected_gene': 'GC13M043559', 'score': 0.16}]
chr13 GH13I043266 43266750 43271100 0.94 [{'connected_gene': 'GC13P043270', 'score': 550.77}, {'connected_gene': 'GC13M043181', 'score': 0.26}, {'connected_gene': 'ENOX1', 'score': 0.03}]
chr13 GH13I043232 43232965 43233134 0.56 [{'connected_gene': 'GC13M043181', 'score': 0.44}, {'connected_gene': 'GC13P043270', 'score': 0.28}, {'connected_gene': 'GC13P043170', 'score': 0.21}, {'connected_gene': 'ENOX1', 'score': 0.03}]
chr13 GH13I043358 43358739 43358807 0.2 [{'connected_gene': 'GC13M043326', 'score': 0.39}, {'connected_gene': 'GC13P043328', 'score': 0.29}, {'connected_gene': 'ENOX1', 'score': 0.04}]
chr13 GH13I043294 43294808 43297133 0.46 [{'connected_gene': 'GC13M043287', 'score': 0.77}, {'connected_gene': 'GC13P043321', 'score': 0.31}, {'connected_gene': 'ENOX1', 'score': 0.04}]
chr13 GH13I043766 43766785 43766934 0.43 [{'connected_gene': 'GC13P043776', 'score': 0.44}, {'connected_gene': 'ENOX1', 'score': 0.34}, {'connected_gene': 'GC13M043559', 'score': 0.15}]
chr13 GH13I043698 43698925 43699074 0.31 [{'connected_gene': 'GC13M043559', 'score': 0.31}, {'connected_gene': 'GC13P043776', 'score': 0.18}, {'connected_gene': 'ENOX1', 'score': 0.17}]
chr13 GH13I043244 43244586 43246660 0.63 [{'connected_gene': 'GC13M043181', 'score': 0.37}, {'connected_gene': 'GC13P043270', 'score': 0.34}, {'connected_gene': 'GC13P043170', 'score': 0.18}, {'connected_gene': 'ENOX1', 'score': 0.03}]
chr13 GH13I043260 43260070 43261701 0.31 [{'connected_gene': 'GC13P043270', 'score': 0.44}, {'connected_gene': 'GC13M043181', 'score': 0.29}, {'connected_gene': 'GC13P043170', 'score': 0.16}, {'connected_gene': 'ENOX1', 'score': 0.03}]
chr13 GH13I043285 43285844 43287216 0.31 [{'connected_gene': 'GC13M043287', 'score': 0.44}, {'connected_gene': 'GC13M043271', 'score': 0.44}, {'connected_gene': 'ENOX1', 'score': 0.03}]
chr13 GH13I043292 43292621 43292959 0.52 [{'connected_gene': 'GC13M043287', 'score': 550.77}, {'connected_gene': 'ENOX1', 'score': 3.44}, {'connected_gene': 'GC13P043321', 'score': 0.31}]
chr13 GH13I043359 43359177 43360374 0.31 [{'connected_gene': 'GC13M043326', 'score': 0.39}, {'connected_gene': 'GC13P043328', 'score': 0.29}, {'connected_gene': 'ENOX1', 'score': 0.04}]
chr13 GH13I043367 43367422 43368872 0.58 [{'connected_gene': 'GC13M043326', 'score': 0.77}, {'connected_gene': 'GC13P043328', 'score': 0.28}, {'connected_gene': 'ENOX1', 'score': 0.05}]
chr13 GH13I043233 43232276 43232394 0.38 [{'connected_gene': 'GC13M043181', 'score': 0.44}, {'connected_gene': 'GC13P043270', 'score': 0.28}, {'connected_gene': 'GC13P043170', 'score': 0.21}, {'connected_gene': 'ENOX1', 'score': 0.03}]
chr13 GH13I043319 43319639 43320380 0.54 [{'connected_gene': 'GC13P043321', 'score': 550.77}, {'connected_gene': 'ENOX1', 'score': 5.61}, {'connected_gene': 'GC13M043287', 'score': 0.31}]
chr13 GH13I043315 43315252 43317832 0.66 [{'connected_gene': 'GC13P043321', 'score': 0.77}, {'connected_gene': 'GC13M043287', 'score': 0.34}, {'connected_gene': 'ENOX1', 'score': 0.04}]
chr13 GH13I043377 43377321 43378841 0.2 [{'connected_gene': 'GC13M043326', 'score': 0.44}, {'connected_gene': 'RPL36P19', 'score': 0.37}, {'connected_gene': 'ENOX1', 'score': 0.05}]
chr13 GH13I043221 43221285 43221434 0.2 [{'connected_gene': 'GC13M043181', 'score': 0.44}, {'connected_gene': 'MOCS3P2', 'score': 0.26}, {'connected_gene': 'GC13P043170', 'score': 0.23}, {'connected_gene': 'ENOX1', 'score': 0.03}]

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