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
ENST00000298032 [[23216952, 23217035], [23220924, 23220973], [23235072, 23235190], [23244735, 23244861], [23247998, 23248067], [23248327, 23248503], [23250812, 23251007], [23257234, 23257418], [23270268, 23270421], [23270523, 23270629], [23287076, 23287326], [23290847, 23290984], [23292174, 23292343], [23295812, 23295910], [23297204, 23297303], [23297743, 23297860], [23319524, 23319725], [23321789, 23321952], [23326198, 23326516]] [[23220925, 23220973], [23235072, 23235190], [23244735, 23244861], [23247998, 23248067], [23248327, 23248503], [23250812, 23251007], [23257234, 23257418], [23270268, 23270421], [23270523, 23270629], [23287076, 23287326], [23290847, 23290984], [23292174, 23292343], [23295812, 23295910], [23297204, 23297303], [23297743, 23297860], [23319524, 23319725], [23321789, 23321952], [23326198, 23326408]]
ENST00000409983 [[23216965, 23217035], [23220924, 23220973], [23235072, 23235190], [23244735, 23244861], [23247998, 23248067], [23248327, 23248503], [23250812, 23251007], [23257234, 23257418], [23270268, 23270421], [23270523, 23270629], [23287076, 23287326], [23290847, 23290984], [23292174, 23292343], [23295812, 23295910], [23297204, 23297303], [23297764, 23297860], [23319524, 23319725], [23321789, 23321952], [23326198, 23326518]] [[23220925, 23220973], [23235072, 23235190], [23244735, 23244861], [23247998, 23248067], [23248327, 23248503], [23250812, 23251007], [23257234, 23257418], [23270268, 23270421], [23270523, 23270629], [23287076, 23287326], [23290847, 23290984], [23292174, 23292343], [23295812, 23295910], [23297204, 23297303], [23297764, 23297860], [23319524, 23319725], [23321789, 23321952], [23326198, 23326408]]
ENST00000409049 [[23216992, 23217035], [23220924, 23220973], [23235072, 23235190], [23244735, 23244861], [23247998, 23248067], [23248327, 23248503], [23250812, 23251007], [23257234, 23257418], [23270268, 23270421], [23270523, 23270629], [23287076, 23287326], [23290847, 23290984], [23292174, 23292343], [23295812, 23295910], [23297204, 23297303], [23297743, 23297860], [23303028, 23303418]] [[23220925, 23220973], [23235072, 23235190], [23244735, 23244861], [23247998, 23248067], [23248327, 23248503], [23250812, 23251007], [23257234, 23257418], [23270268, 23270421], [23270523, 23270629], [23287076, 23287326], [23290847, 23290984], [23292174, 23292343], [23295812, 23295910], [23297204, 23297303], [23297743, 23297860], [23303028, 23303050]]
ENST00000496741 [[23217005, 23217035], [23220924, 23220973], [23244735, 23244861], [23247998, 23248067], [23257234, 23257418], [23270268, 23270382]] None
ENST00000484642 [[23217005, 23217035], [23220924, 23220973], [23247998, 23248067], [23248327, 23248503], [23248789, 23248856], [23249866, 23249958], [23250867, 23251007], [23257234, 23257418], [23270268, 23270421], [23270523, 23270537]] None
ENST00000376528 [[23217005, 23217035], [23220924, 23220973], [23244735, 23244861], [23247998, 23248067], [23257234, 23257418], [23270268, 23270421], [23270523, 23270629], [23287076, 23287326], [23290847, 23290984], [23292174, 23292343], [23295812, 23295910], [23297204, 23297303], [23297743, 23297860], [23319524, 23319725], [23321789, 23321952], [23326198, 23326495]] [[23257291, 23257418], [23270268, 23270421], [23270523, 23270629], [23287076, 23287326], [23290847, 23290984], [23292174, 23292343], [23295812, 23295910], [23297204, 23297303], [23297743, 23297860], [23319524, 23319725], [23321789, 23321952], [23326198, 23326408]]
ENST00000447081 [[23217013, 23217035], [23220924, 23220973], [23244735, 23244861], [23247998, 23248067], [23248327, 23248503], [23250812, 23250895]] [[23244833, 23244861], [23247998, 23248067], [23248327, 23248503], [23250812, 23250895]]
ENST00000468003 [[23217013, 23217035], [23220924, 23220973], [23235072, 23235190], [23244735, 23244861], [23247998, 23248067], [23248327, 23248503], [23257234, 23257271]] None
ENST00000483596 [[23217014, 23217035], [23220924, 23220973], [23235072, 23235190], [23244735, 23244861], [23247998, 23248067], [23248327, 23248503], [23250921, 23250996]] None
ENST00000465729 [[23220924, 23220973], [23235072, 23235612]] None
ENST00000464017 [[23244124, 23244318], [23244735, 23244861], [23247998, 23248067], [23248327, 23248503], [23248789, 23250656]] None
ENST00000491803 [[23295663, 23295910], [23297204, 23297303]] None
ENST00000473919 [[23319559, 23319725], [23319894, 23320124]] None
NM_001282746 [[23216952, 23217035], [23220924, 23220973], [23235072, 23235190], [23244735, 23244861], [23247998, 23248067], [23248327, 23248503], [23250812, 23251007], [23257234, 23257418], [23270268, 23270421], [23270523, 23270629], [23287076, 23287326], [23290847, 23290984], [23292174, 23292343], [23295812, 23295910], [23297204, 23297303], [23297743, 23297860], [23303028, 23303418]] [[23220925, 23220973], [23235072, 23235190], [23244735, 23244861], [23247998, 23248067], [23248327, 23248503], [23250812, 23251007], [23257234, 23257418], [23270268, 23270421], [23270523, 23270629], [23287076, 23287326], [23290847, 23290984], [23292174, 23292343], [23295812, 23295910], [23297204, 23297303], [23297743, 23297860], [23303028, 23303050]]
NM_001282747 [[23216952, 23217035], [23220924, 23220973], [23244735, 23244861], [23247998, 23248067], [23257234, 23257418], [23270268, 23270421], [23270523, 23270629], [23287076, 23287326], [23290847, 23290984], [23292174, 23292343], [23295812, 23295910], [23297204, 23297303], [23297743, 23297860], [23319524, 23319725], [23321789, 23321952], [23326198, 23327452]] [[23257291, 23257418], [23270268, 23270421], [23270523, 23270629], [23287076, 23287326], [23290847, 23290984], [23292174, 23292343], [23295812, 23295910], [23297204, 23297303], [23297743, 23297860], [23319524, 23319725], [23321789, 23321952], [23326198, 23326408]]
NM_001282745 [[23216952, 23217035], [23220924, 23220973], [23235072, 23235190], [23244735, 23244861], [23247998, 23248067], [23248327, 23248503], [23250812, 23251007], [23257234, 23257418], [23270268, 23270421], [23270523, 23270629], [23287076, 23287326], [23290847, 23290984], [23292174, 23292343], [23295812, 23295910], [23297204, 23297303], [23297764, 23297860], [23319524, 23319725], [23321789, 23321952], [23326198, 23327452]] [[23220925, 23220973], [23235072, 23235190], [23244735, 23244861], [23247998, 23248067], [23248327, 23248503], [23250812, 23251007], [23257234, 23257418], [23270268, 23270421], [23270523, 23270629], [23287076, 23287326], [23290847, 23290984], [23292174, 23292343], [23295812, 23295910], [23297204, 23297303], [23297764, 23297860], [23319524, 23319725], [23321789, 23321952], [23326198, 23326408]]
NM_173081 [[23216952, 23217035], [23220924, 23220973], [23235072, 23235190], [23244735, 23244861], [23247998, 23248067], [23248327, 23248503], [23250812, 23251007], [23257234, 23257418], [23270268, 23270421], [23270523, 23270629], [23287076, 23287326], [23290847, 23290984], [23292174, 23292343], [23295812, 23295910], [23297204, 23297303], [23297743, 23297860], [23319524, 23319725], [23321789, 23321952], [23326198, 23327452]] [[23220925, 23220973], [23235072, 23235190], [23244735, 23244861], [23247998, 23248067], [23248327, 23248503], [23250812, 23251007], [23257234, 23257418], [23270268, 23270421], [23270523, 23270629], [23287076, 23287326], [23290847, 23290984], [23292174, 23292343], [23295812, 23295910], [23297204, 23297303], [23297743, 23297860], [23319524, 23319725], [23321789, 23321952], [23326198, 23326408]]
Promoter
Chrom Start End Description
chr10 23216941 23216943 CAGE_peak_3_at_ARMC3_5end
chr10 23216944 23217002 CAGE_peak_1_at_ARMC3_5end
chr10 23217008 23217018 CAGE_peak_2_at_ARMC3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I022476 22476066 22476315 0.77 [{'connected_gene': 'SPAG6', 'score': 14.87}, {'connected_gene': 'ARMC3', 'score': 3.54}, {'connected_gene': 'LOC105376450', 'score': 0.77}, {'connected_gene': 'TRP-GGG1-1', 'score': 0.17}]
chr10 GH10I022912 22912006 22914169 0.95 [{'connected_gene': 'BMI1', 'score': 12.69}, {'connected_gene': 'DNAJC1', 'score': 9.92}, {'connected_gene': 'ENSG00000261671', 'score': 9.71}, {'connected_gene': 'ARMC3', 'score': 0.39}, {'connected_gene': 'LOC105376451', 'score': 0.22}]
chr10 GH10I023016 23015366 23015653 0.54 [{'connected_gene': 'PIP4K2A', 'score': 6.08}, {'connected_gene': 'RNA5SP304', 'score': 0.37}, {'connected_gene': 'MSRB2', 'score': 0.18}, {'connected_gene': 'ARMC3', 'score': 0.17}]
chr10 GH10I022988 22988972 22989141 0.86 [{'connected_gene': 'PIP4K2A', 'score': 6.3}, {'connected_gene': 'RNA5SP304', 'score': 0.44}, {'connected_gene': 'GC10M022921', 'score': 0.22}, {'connected_gene': 'ARMC3', 'score': 0.21}]
chr10 GH10I022897 22897492 22897641 0.2 [{'connected_gene': 'COMMD3', 'score': 4.44}, {'connected_gene': 'ARMC3', 'score': 0.29}, {'connected_gene': 'LOC105376451', 'score': 0.26}]
chr10 GH10I022849 22849056 22850161 1.22 [{'connected_gene': 'ARMC3', 'score': 3.04}, {'connected_gene': 'PIP4K2A', 'score': 2.02}, {'connected_gene': 'LOC105376451', 'score': 0.77}, {'connected_gene': 'GC10P022788', 'score': 0.21}]
chr10 GH10I022927 22927432 22928482 1.85 [{'connected_gene': 'ARMC3', 'score': 550.77}, {'connected_gene': 'GC10M022921', 'score': 0.77}, {'connected_gene': 'LOC105376451', 'score': 0.19}]
chr10 GH10I022894 22894912 22894981 0.7 [{'connected_gene': 'ARMC3', 'score': 0.29}, {'connected_gene': 'LOC105376451', 'score': 0.26}]
chr10 GH10I022875 22875585 22876232 0.2 [{'connected_gene': 'LOC105376451', 'score': 0.34}, {'connected_gene': 'ARMC3', 'score': 0.23}]
chr10 GH10I023015 23015172 23015321 0.54 [{'connected_gene': 'RNA5SP304', 'score': 0.37}, {'connected_gene': 'MSRB2', 'score': 0.18}, {'connected_gene': 'ARMC3', 'score': 0.17}]

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