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
ENST00000317623 [[60558628, 60559137], [60581417, 60581597], [60581691, 60582179], [60582436, 60582537], [60582658, 60582778], [60585046, 60585410], [60587913, 60588017], [60590935, 60591969], [60592354, 60592541], [60600687, 60601532]] [[60581430, 60581597], [60581691, 60582179], [60582436, 60582537], [60582658, 60582778], [60585046, 60585410], [60587913, 60588017], [60590935, 60591969], [60592354, 60592541], [60600687, 60600939]]
ENST00000391611 [[60558636, 60559137], [60574303, 60577875]] [[60574356, 60575049]]
ENST00000406854 [[60558636, 60559137], [60574303, 60575045], [60581417, 60581597], [60581691, 60582179], [60582436, 60582537], [60582658, 60582778], [60585046, 60585410], [60587913, 60588017], [60590935, 60591969], [60592354, 60592541], [60600687, 60601532]] [[60574356, 60575045], [60581417, 60581597], [60581691, 60582179], [60582436, 60582537], [60582658, 60582778], [60585046, 60585410], [60587913, 60588017], [60590935, 60591969], [60592354, 60592541], [60600687, 60600939]]
ENST00000406949 [[60558644, 60559137], [60581417, 60581597], [60581691, 60582179], [60582436, 60582537], [60582658, 60582778], [60585046, 60585410], [60587913, 60588017], [60590935, 60591969], [60592354, 60592541], [60635409, 60635851]] [[60581430, 60581597], [60581691, 60582179], [60582436, 60582537], [60582658, 60582778], [60585046, 60585410], [60587913, 60588017], [60590935, 60591969], [60592354, 60592541], [60635409, 60635466]]
ENST00000556907 [[60558694, 60559137], [60582436, 60582488]] None
ENST00000555569 [[60558903, 60559137], [60581417, 60581698]] None
ENST00000404681 [[60574356, 60575045], [60581417, 60581597], [60581691, 60582179], [60582436, 60582537], [60582658, 60582778], [60585046, 60585410], [60587913, 60588017], [60590935, 60591969], [60592354, 60592541], [60600687, 60601527]] [[60574356, 60575045], [60581417, 60581597], [60581691, 60582179], [60582436, 60582537], [60582658, 60582778], [60585046, 60585410], [60587913, 60588017], [60590935, 60591969], [60592354, 60592541], [60600687, 60600939]]
ENST00000483571 [[60582061, 60582179], [60582436, 60582537], [60582658, 60582778], [60585094, 60585410], [60587913, 60588017], [60590935, 60591969], [60592354, 60592908]] None
ENST00000553513 [[60582338, 60582537], [60582658, 60582778], [60585046, 60585267]] None
ENST00000554534 [[60582699, 60582778], [60585292, 60585410], [60587913, 60588017], [60590935, 60590991]] [[60582699, 60582778], [60585292, 60585410], [60587913, 60588017], [60590935, 60590991]]
ENST00000535349 [[60585160, 60585410], [60587913, 60588017], [60590935, 60591969], [60592354, 60592541], [60600373, 60600503], [60600687, 60601527]] [[60591268, 60591969], [60592354, 60592541], [60600373, 60600382]]
ENST00000555740 [[60585160, 60585410], [60587913, 60588017], [60590935, 60591969], [60592354, 60592541], [60600373, 60600503], [60600687, 60601527]] [[60585160, 60585410], [60587913, 60588017], [60590935, 60591969], [60592354, 60592541], [60600373, 60600382]]
ENST00000555929 [[60585341, 60585410], [60587913, 60588017], [60590935, 60591028], [60592354, 60592541], [60600687, 60600945]] [[60585341, 60585410], [60587913, 60588017], [60590935, 60591028], [60592354, 60592378]]
ENST00000556360 [[60591023, 60591431], [60592354, 60592541], [60600687, 60600803]] [[60591023, 60591431], [60592354, 60592365]]
ENST00000553898 [[60614042, 60614125], [60635409, 60635849]] None
NM_022495 [[60558628, 60559137], [60581417, 60581597], [60581691, 60582179], [60582436, 60582537], [60582658, 60582778], [60585046, 60585410], [60587913, 60588017], [60590935, 60591969], [60592354, 60592541], [60600687, 60601532]] [[60581430, 60581597], [60581691, 60582179], [60582436, 60582537], [60582658, 60582778], [60585046, 60585410], [60587913, 60588017], [60590935, 60591969], [60592354, 60592541], [60600687, 60600939]]
NM_001330177 [[60558628, 60559137], [60574303, 60575045], [60581417, 60581597], [60581691, 60582179], [60582436, 60582537], [60582658, 60582778], [60585046, 60585410], [60587913, 60588017], [60590935, 60591969], [60592354, 60592541], [60600687, 60601532]] [[60574356, 60575045], [60581417, 60581597], [60581691, 60582179], [60582436, 60582537], [60582658, 60582778], [60585046, 60585410], [60587913, 60588017], [60590935, 60591969], [60592354, 60592541], [60600687, 60600939]]
Promoter
Chrom Start End Description
chr14 60558627 60558738 CAGE_peak_1_at_C14orf135_5end
chr14 60558814 60558832 CAGE_peak_5_at_C14orf135_5end
chr14 60558863 60558932 CAGE_peak_2_at_C14orf135_5end
chr14 60558935 60558955 CAGE_peak_4_at_C14orf135_5end
chr14 60559020 60559037 CAGE_peak_3_at_C14orf135_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I060640 60640562 60659805 2.85 [{'connected_gene': 'SIX1', 'score': 550.44}, {'connected_gene': 'TRMT5', 'score': 45.64}, {'connected_gene': 'SLC38A6', 'score': 31.46}, {'connected_gene': 'PCNX4', 'score': 29.74}, {'connected_gene': 'C14orf39', 'score': 25.92}, {'connected_gene': 'LOC101927702', 'score': 12.32}, {'connected_gene': 'SIX4', 'score': 10.84}, {'connected_gene': 'TMEM30B', 'score': 10.66}, {'connected_gene': 'MNAT1', 'score': 10.62}, {'connected_gene': 'SIX6', 'score': 9.93}, {'connected_gene': 'RNU6-398P', 'score': 9.09}, {'connected_gene': 'PPM1A', 'score': 5.21}, {'connected_gene': 'GC14P060643', 'score': 0.44}, {'connected_gene': 'LOC105378189', 'score': 0.44}, {'connected_gene': 'SALRNA1', 'score': 0.39}, {'connected_gene': 'GC14M060376', 'score': 0.19}]
chr9 GH09I094629 94629195 94633583 0.79 [{'connected_gene': 'FBP2', 'score': 17.85}, {'connected_gene': 'MFSD14B', 'score': 9.48}, {'connected_gene': 'FBP1', 'score': 6.08}]
chr9 GH09I094593 94593423 94594664 0.7 [{'connected_gene': 'FBP2', 'score': 557.46}, {'connected_gene': 'MFSD14B', 'score': 10.27}, {'connected_gene': 'ZNF169', 'score': 4.01}, {'connected_gene': 'FBP1', 'score': 0.25}]
chr9 GH09I094532 94532964 94534067 0.69 [{'connected_gene': 'FBP2', 'score': 5.71}, {'connected_gene': 'PIR43687', 'score': 0.37}, {'connected_gene': 'NUTM2F', 'score': 0.34}]
chr9 GH09I094623 94623359 94623488 0.81 [{'connected_gene': 'FBP2', 'score': 11.42}, {'connected_gene': 'FBP1', 'score': 0.37}]
chr9 GH09I094511 94511571 94511971 0.58 [{'connected_gene': 'FBP2', 'score': 4.86}, {'connected_gene': 'PIR43687', 'score': 0.77}, {'connected_gene': 'RNU6-669P', 'score': 0.77}, {'connected_gene': 'LOC100421692', 'score': 0.37}, {'connected_gene': 'NUTM2F', 'score': 0.26}]
chr14 GH14I060090 60090603 60096835 2.49 [{'connected_gene': 'PCNX4', 'score': 563.62}, {'connected_gene': 'LOC105370524', 'score': 550.77}, {'connected_gene': 'DHRS7', 'score': 15.49}, {'connected_gene': 'L3HYPDH', 'score': 14.06}, {'connected_gene': 'SCOCP1', 'score': 11.52}, {'connected_gene': 'TRMT5', 'score': 11.15}, {'connected_gene': 'GC14P060140', 'score': 0.25}]
chr14 GH14I060025 60025292 60026361 0.52 [{'connected_gene': 'PCNX4', 'score': 13.27}, {'connected_gene': 'LOC105370524', 'score': 0.2}, {'connected_gene': 'ENSG00000261120', 'score': 0.14}, {'connected_gene': 'LRRC9', 'score': 0.14}]
chr14 GH14I060153 60153614 60155258 0.6 [{'connected_gene': 'PCNX4', 'score': 11.08}, {'connected_gene': 'LOC101927702', 'score': 10.31}, {'connected_gene': 'PPM1A', 'score': 10.31}, {'connected_gene': 'SCOCP1', 'score': 0.77}, {'connected_gene': 'GC14P060159', 'score': 0.77}, {'connected_gene': 'GC14P060140', 'score': 0.39}, {'connected_gene': 'DHRS7', 'score': 0.37}]
chr14 GH14I059724 59724502 59730584 0.46 [{'connected_gene': 'RTN1', 'score': 20.57}, {'connected_gene': 'PCNX4', 'score': 6.45}, {'connected_gene': 'RPL31P4', 'score': 5.11}, {'connected_gene': 'GC14P059713', 'score': 0.39}, {'connected_gene': 'GC14M059744', 'score': 0.28}]
chr14 GH14I059739 59739308 59741530 0.43 [{'connected_gene': 'RTN1', 'score': 19.88}, {'connected_gene': 'PCNX4', 'score': 5.86}, {'connected_gene': 'GC14P059713', 'score': 0.31}, {'connected_gene': 'GC14M059744', 'score': 0.31}]
chr14 GH14I059870 59870000 59871001 1.77 [{'connected_gene': 'RTN1', 'score': 550.77}, {'connected_gene': 'PCNX4', 'score': 11.22}, {'connected_gene': 'GC14P059856', 'score': 0.39}]
chr9 GH09I094554 94554400 94555201 1.22 [{'connected_gene': 'NUTM2F', 'score': 550.77}, {'connected_gene': 'PCAT7', 'score': 550.77}, {'connected_gene': 'MFSD14B', 'score': 11.8}, {'connected_gene': 'FBP2', 'score': 6.15}, {'connected_gene': 'LOC100132077', 'score': 4.69}, {'connected_gene': 'PIR43687', 'score': 0.26}]
chr14 GH14I060150 60150794 60153210 1.38 [{'connected_gene': 'DHRS7', 'score': 22.61}, {'connected_gene': 'PCNX4', 'score': 11.98}, {'connected_gene': 'RTN1', 'score': 7.23}, {'connected_gene': 'PPM1A', 'score': 2.36}, {'connected_gene': 'SCOCP1', 'score': 0.44}, {'connected_gene': 'GC14P060159', 'score': 0.44}, {'connected_gene': 'GC14P060140', 'score': 0.39}]
chr14 GH14I060155 60155367 60156704 0.31 [{'connected_gene': 'DHRS7', 'score': 21.98}, {'connected_gene': 'PCNX4', 'score': 11.08}, {'connected_gene': 'PPM1A', 'score': 10.32}, {'connected_gene': 'LOC101927702', 'score': 10.31}, {'connected_gene': 'CCDC175', 'score': 6.74}, {'connected_gene': 'SCOCP1', 'score': 0.77}, {'connected_gene': 'GC14P060159', 'score': 0.77}, {'connected_gene': 'GC14P060140', 'score': 0.37}]
chr14 GH14I060163 60163782 60167006 2.18 [{'connected_gene': 'DHRS7', 'score': 573.26}, {'connected_gene': 'PCNX4', 'score': 11.55}, {'connected_gene': 'SCOCP1', 'score': 0.44}, {'connected_gene': 'GC14P060159', 'score': 0.44}]
chr14 GH14I060174 60174263 60176232 0.54 [{'connected_gene': 'DHRS7', 'score': 22.02}, {'connected_gene': 'PCNX4', 'score': 10.78}, {'connected_gene': 'LOC101927702', 'score': 10.34}, {'connected_gene': 'PPM1A', 'score': 10.34}, {'connected_gene': 'PSMA3P', 'score': 0.77}]
chr14 GH14I060105 60105829 60107400 0.6 [{'connected_gene': 'DHRS7', 'score': 15.08}, {'connected_gene': 'PCNX4', 'score': 0.39}, {'connected_gene': 'GC14P060140', 'score': 0.29}]
chr14 GH14I060101 60101923 60103333 0.63 [{'connected_gene': 'DHRS7', 'score': 15.07}, {'connected_gene': 'PCNX4', 'score': 0.39}, {'connected_gene': 'GC14P060140', 'score': 0.28}]
chr14 GH14I060161 60161213 60162599 1.26 [{'connected_gene': 'DHRS7', 'score': 22.02}, {'connected_gene': 'SCOCP1', 'score': 0.77}, {'connected_gene': 'GC14P060159', 'score': 0.77}, {'connected_gene': 'PCNX4', 'score': 0.19}]
chr14 GH14I060734 60734143 60737272 2.1 [{'connected_gene': 'MNAT1', 'score': 550.77}, {'connected_gene': 'TRMT5', 'score': 20.66}, {'connected_gene': 'PCNX4', 'score': 11.44}, {'connected_gene': 'SLC38A6', 'score': 10.07}, {'connected_gene': 'RBM8B', 'score': 9.72}, {'connected_gene': 'RNU6-398P', 'score': 9.67}, {'connected_gene': 'MAD2L1P1', 'score': 0.26}]
chr14 GH14I060158 60158320 60160195 0.2 [{'connected_gene': 'SCOCP1', 'score': 550.77}, {'connected_gene': 'GC14P060159', 'score': 550.77}, {'connected_gene': 'DHRS7', 'score': 21.98}, {'connected_gene': 'PCNX4', 'score': 11.49}, {'connected_gene': 'LOC101927702', 'score': 10.32}, {'connected_gene': 'PPM1A', 'score': 10.32}]
chr14 GH14I060160 60160601 60161000 0.4 [{'connected_gene': 'SCOCP1', 'score': 550.77}, {'connected_gene': 'GC14P060159', 'score': 550.77}, {'connected_gene': 'DHRS7', 'score': 0.44}, {'connected_gene': 'PCNX4', 'score': 0.2}]
chr9 GH09I094602 94602724 94605388 1 [{'connected_gene': 'FBP1', 'score': 16.35}, {'connected_gene': 'MFSD14B', 'score': 8.24}, {'connected_gene': 'FBP2', 'score': 7.89}]
chr9 GH09I094586 94586401 94587161 0.31 [{'connected_gene': 'FBP1', 'score': 10.56}, {'connected_gene': 'MFSD14B', 'score': 10.31}, {'connected_gene': 'LOC100132077', 'score': 4.97}, {'connected_gene': 'FBP2', 'score': 0.44}, {'connected_gene': 'PIR56012', 'score': 0.37}, {'connected_gene': 'GC09P094571', 'score': 0.37}]
chr9 GH09I094638 94638331 94640389 2.01 [{'connected_gene': 'FBP1', 'score': 560.88}, {'connected_gene': 'FBP2', 'score': 6.05}, {'connected_gene': 'C9orf3', 'score': 1.96}, {'connected_gene': 'ZNF169', 'score': 1.2}]
chr9 GH09I094672 94672531 94676636 0.76 [{'connected_gene': 'FBP1', 'score': 11.02}, {'connected_gene': 'FBP2', 'score': 10.56}, {'connected_gene': 'FANCC', 'score': 5.64}, {'connected_gene': 'PIR42796', 'score': 0.29}]
chr9 GH09I094606 94606273 94610086 0.85 [{'connected_gene': 'FBP1', 'score': 17.46}, {'connected_gene': 'FBP2', 'score': 7.82}, {'connected_gene': 'ZNF169', 'score': 5.43}]
chr9 GH09I094636 94636201 94638000 0.31 [{'connected_gene': 'FBP1', 'score': 6.42}, {'connected_gene': 'FBP2', 'score': 6.27}]
chr9 GH09I094662 94662657 94670188 1.2 [{'connected_gene': 'FBP1', 'score': 11.6}, {'connected_gene': 'FBP2', 'score': 10.36}, {'connected_gene': 'PIR42796', 'score': 0.28}]
chr9 GH09I094600 94600479 94600628 0.63 [{'connected_gene': 'FBP1', 'score': 10.87}, {'connected_gene': 'FBP2', 'score': 0.44}]
chr14 GH14I059160 59160993 59162656 1.29 [{'connected_gene': 'L3HYPDH', 'score': 20.44}, {'connected_gene': 'KIAA0586', 'score': 18.81}, {'connected_gene': 'GPR135', 'score': 13.0}, {'connected_gene': 'PCNX4', 'score': 11.72}, {'connected_gene': 'DAAM1', 'score': 11.45}, {'connected_gene': 'TIMM9', 'score': 11.27}, {'connected_gene': 'PPIAP5', 'score': 0.37}, {'connected_gene': 'AKR1B1P5', 'score': 0.31}]
chr14 GH14I059481 59481273 59486654 2.51 [{'connected_gene': 'L3HYPDH', 'score': 605.98}, {'connected_gene': 'JKAMP', 'score': 559.9}, {'connected_gene': 'GPR135', 'score': 13.31}, {'connected_gene': 'PCNX4', 'score': 11.73}, {'connected_gene': 'RBM8B', 'score': 5.72}, {'connected_gene': 'ENSG00000258782', 'score': 0.26}]
chr14 GH14I060330 60330801 60332532 1.27 [{'connected_gene': 'L3HYPDH', 'score': 22.03}, {'connected_gene': 'C14orf39', 'score': 14.51}, {'connected_gene': 'PCNX4', 'score': 11.47}, {'connected_gene': 'SCOCP1', 'score': 11.19}, {'connected_gene': 'LOC101927702', 'score': 10.83}, {'connected_gene': 'PPM1A', 'score': 10.83}, {'connected_gene': 'TRMT5', 'score': 10.62}, {'connected_gene': 'GC14P060353', 'score': 0.34}, {'connected_gene': 'LINC02322', 'score': 0.31}]
chr14 GH14I059305 59305018 59307750 1.14 [{'connected_gene': 'L3HYPDH', 'score': 21.34}, {'connected_gene': 'DAAM1', 'score': 14.68}, {'connected_gene': 'PCNX4', 'score': 12.93}, {'connected_gene': 'KIAA0586', 'score': 11.84}, {'connected_gene': 'JKAMP', 'score': 10.2}, {'connected_gene': 'RTN1', 'score': 4.75}, {'connected_gene': 'GC14P059252', 'score': 0.23}, {'connected_gene': 'GC14P059386', 'score': 0.18}]
chr14 GH14I060178 60178965 60180537 0.97 [{'connected_gene': 'GC14P060180', 'score': 550.77}, {'connected_gene': 'PSMA3P', 'score': 550.77}, {'connected_gene': 'PPM1A', 'score': 18.47}, {'connected_gene': 'RTN1', 'score': 12.71}, {'connected_gene': 'LOC101927702', 'score': 11.19}, {'connected_gene': 'PCNX4', 'score': 10.78}, {'connected_gene': 'C14orf39', 'score': 9.84}, {'connected_gene': 'RPL17P2', 'score': 0.29}]

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