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
ENST00000380753 [[5029966, 5032230], [5034022, 5034105], [5037510, 5037676], [5037947, 5038057], [5040816, 5040939], [5041391, 5041469], [5042741, 5042858], [5043705, 5043873], [5045943, 5046215]] [[5032187, 5032230], [5034022, 5034105], [5037510, 5037676], [5037947, 5038057], [5040816, 5040939], [5041391, 5041469], [5042741, 5042858], [5043705, 5043873], [5045943, 5046027]]
ENST00000421196 [[5031625, 5032230], [5034022, 5034105], [5037510, 5037676], [5037947, 5038057], [5040816, 5040939], [5042741, 5042858], [5043705, 5043873], [5045943, 5046052]] [[5032187, 5032230], [5034022, 5034105], [5037510, 5037676], [5037947, 5038057], [5040816, 5040939], [5042741, 5042858], [5043705, 5043873], [5045943, 5046027]]
ENST00000407674 [[5031965, 5032230], [5034022, 5034105], [5037510, 5037676], [5037947, 5038057], [5040816, 5040939], [5041391, 5041469], [5042741, 5042858], [5043705, 5043873], [5045943, 5046206], [5049598, 5049698], [5060091, 5060207]] [[5032187, 5032230], [5034022, 5034105], [5037510, 5037676], [5037947, 5038057], [5040816, 5040939], [5041391, 5041469], [5042741, 5042858], [5043705, 5043873], [5045943, 5046027]]
ENST00000460124 [[5031980, 5032230], [5034022, 5034105], [5037510, 5037676], [5037947, 5038057], [5040816, 5040939], [5041391, 5042858], [5043705, 5043873], [5045943, 5046215]] None
ENST00000604507 [[5038025, 5038057], [5040816, 5040939], [5041391, 5041469], [5042741, 5042858], [5043705, 5043873], [5045943, 5046114], [5060091, 5060147]] [[5038025, 5038057], [5040816, 5040939], [5041391, 5041469], [5042741, 5042858], [5043705, 5043873], [5045943, 5046027]]
ENST00000455190 [[5042102, 5042652], [5042741, 5042858], [5043705, 5043873], [5045943, 5046053]] [[5042601, 5042652], [5042741, 5042858], [5043705, 5043873], [5045943, 5046027]]
ENST00000604184 [[5042494, 5042652], [5042741, 5042858], [5043705, 5043873], [5045943, 5046053]] None
ENST00000604428 [[5048186, 5048244], [5049598, 5049698], [5052535, 5052845], [5060091, 5060223]] None
ENST00000604711 [[5048653, 5048784], [5049598, 5049698], [5052535, 5052845], [5060091, 5060126]] None
ENST00000603073 [[5052654, 5052845], [5057094, 5057426], [5058028, 5058084]] None
ENST00000604439 [[5055498, 5055812], [5057094, 5057240]] None
NM_001321027 [[5029966, 5032230], [5034022, 5034105], [5037510, 5037676], [5037947, 5038057], [5040816, 5040939], [5042741, 5042858], [5043705, 5043873], [5045943, 5046206]] [[5032187, 5032230], [5034022, 5034105], [5037510, 5037676], [5037947, 5038057], [5040816, 5040939], [5042741, 5042858], [5043705, 5043873], [5045943, 5046027]]
NM_001354 [[5029966, 5032230], [5034022, 5034105], [5037510, 5037676], [5037947, 5038057], [5040816, 5040939], [5041391, 5041469], [5042741, 5042858], [5043705, 5043873], [5045943, 5046206], [5049598, 5049698], [5060091, 5060225]] [[5032187, 5032230], [5034022, 5034105], [5037510, 5037676], [5037947, 5038057], [5040816, 5040939], [5041391, 5041469], [5042741, 5042858], [5043705, 5043873], [5045943, 5046027]]
NM_205845 [[5029966, 5032230], [5034022, 5034105], [5037510, 5037676], [5037947, 5038057], [5040816, 5040939], [5041391, 5041469], [5042741, 5042858], [5043705, 5043873], [5045943, 5046206], [5060091, 5060225]] [[5032187, 5032230], [5034022, 5034105], [5037510, 5037676], [5037947, 5038057], [5040816, 5040939], [5041391, 5041469], [5042741, 5042858], [5043705, 5043873], [5045943, 5046027]]
NM_001135241 [[5042102, 5042652], [5042741, 5042858], [5043705, 5043873], [5045943, 5046206]] [[5042601, 5042652], [5042741, 5042858], [5043705, 5043873], [5045943, 5046027]]
Promoter
Chrom Start End Description
chr10 5046042 5046058 CAGE_peak_1_at_AKR1C2_5end
chr10 5060113 5060122 CAGE_peak_4_at_AKR1C2_5end
chr10 5060148 5060171 CAGE_peak_2_at_AKR1C2_5end
chr10 5060184 5060198 CAGE_peak_3_at_AKR1C2_5end
chr10 5060201 5060211 CAGE_peak_5_at_AKR1C2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I004901 4901848 4903634 0.63 [{'connected_gene': 'AKR1C3', 'score': 5.17}, {'connected_gene': 'AKR1C2', 'score': 5.12}, {'connected_gene': 'AKR1C1', 'score': 4.68}, {'connected_gene': 'AKR1C6P', 'score': 0.39}, {'connected_gene': 'PIR32364', 'score': 0.25}]
chr10 GH10I005069 5069438 5073572 1.46 [{'connected_gene': 'AKR1C3', 'score': 17.55}, {'connected_gene': 'AKR1C2', 'score': 11.04}, {'connected_gene': 'AKR1C1', 'score': 5.38}, {'connected_gene': 'PIR40953', 'score': 0.39}, {'connected_gene': 'ENSG00000239142', 'score': 0.34}, {'connected_gene': 'GC10P005044', 'score': 0.31}]
chr10 GH10I005032 5032912 5034098 0.68 [{'connected_gene': 'AKR1C3', 'score': 566.6}, {'connected_gene': 'AKR1C2', 'score': 11.21}]
chr10 GH10I005025 5025473 5025833 0.78 [{'connected_gene': 'AKR1C3', 'score': 14.84}, {'connected_gene': 'AKR1C2', 'score': 0.44}]
chr10 GH10I005022 5022807 5022828 0.2 [{'connected_gene': 'AKR1C3', 'score': 15.32}, {'connected_gene': 'AKR1C2', 'score': 0.77}]
chr10 GH10I004807 4807187 4809649 0.79 [{'connected_gene': 'AKR1E2', 'score': 18.91}, {'connected_gene': 'AKR1C2', 'score': 5.57}, {'connected_gene': 'GC10P004844', 'score': 0.28}]
chr10 GH10I004825 4825549 4827596 1.92 [{'connected_gene': 'AKR1E2', 'score': 558.14}, {'connected_gene': 'UCN3', 'score': 10.29}, {'connected_gene': 'TUBAL3', 'score': 9.7}, {'connected_gene': 'AKR1C2', 'score': 8.64}, {'connected_gene': 'GC10P004844', 'score': 0.37}]
chr10 GH10I004847 4847121 4851089 1.46 [{'connected_gene': 'FAM208B', 'score': 11.85}, {'connected_gene': 'NRBF2P5', 'score': 11.37}, {'connected_gene': 'AKR1E2', 'score': 11.0}, {'connected_gene': 'ENSG00000226647', 'score': 9.95}, {'connected_gene': 'UCN3', 'score': 9.86}, {'connected_gene': 'AKR1C2', 'score': 5.31}, {'connected_gene': 'GC10P004844', 'score': 0.77}, {'connected_gene': 'PIR32364', 'score': 0.77}]
chr10 GH10I005018 5018529 5021400 1.24 [{'connected_gene': 'AKR1C2', 'score': 577.25}, {'connected_gene': 'AKR1C3', 'score': 14.48}, {'connected_gene': 'ENSG00000239142', 'score': 11.01}, {'connected_gene': 'UCN3', 'score': 10.4}, {'connected_gene': 'AKR1C1', 'score': 8.69}]
chr10 GH10I005021 5021917 5022193 0.43 [{'connected_gene': 'AKR1C2', 'score': 14.15}, {'connected_gene': 'ENSG00000239142', 'score': 11.01}, {'connected_gene': 'AKR1C3', 'score': 10.89}, {'connected_gene': 'UCN3', 'score': 10.4}]
chr10 GH10I004924 4924825 4924970 0.48 [{'connected_gene': 'AKR1C2', 'score': 18.13}, {'connected_gene': 'AKR1C1', 'score': 10.8}, {'connected_gene': 'UCN3', 'score': 9.72}, {'connected_gene': 'AKR1C6P', 'score': 0.44}, {'connected_gene': 'GC10P004937', 'score': 0.39}]
chr10 GH10I004956 4956337 4959578 0.69 [{'connected_gene': 'AKR1C2', 'score': 22.17}, {'connected_gene': 'AKR1C1', 'score': 11.48}, {'connected_gene': 'LOC101928051', 'score': 5.3}, {'connected_gene': 'ENSG00000238840', 'score': 0.77}, {'connected_gene': 'GC10P004937', 'score': 0.34}, {'connected_gene': 'GC10M004934', 'score': 0.29}]
chr10 GH10I004939 4939361 4944400 1.35 [{'connected_gene': 'AKR1C2', 'score': 19.88}, {'connected_gene': 'AKR1C1', 'score': 14.61}, {'connected_gene': 'GC10P004937', 'score': 0.77}, {'connected_gene': 'ENSG00000238840', 'score': 0.34}, {'connected_gene': 'GC10M004934', 'score': 0.25}]
chr10 GH10I004811 4811602 4814046 1.17 [{'connected_gene': 'AKR1C2', 'score': 6.28}, {'connected_gene': 'LOC101928051', 'score': 6.07}, {'connected_gene': 'AKR1E2', 'score': 5.98}, {'connected_gene': 'AKR1C1', 'score': 4.6}, {'connected_gene': 'GC10P004844', 'score': 0.29}]
chr10 GH10I004981 4981339 4987603 1.39 [{'connected_gene': 'AKR1C2', 'score': 12.46}, {'connected_gene': 'LOC101928051', 'score': 11.42}, {'connected_gene': 'AKR1C1', 'score': 10.9}, {'connected_gene': 'AKR1C3', 'score': 5.1}, {'connected_gene': 'GC10P004980', 'score': 0.77}, {'connected_gene': 'GC10P004986', 'score': 0.77}, {'connected_gene': 'GC10M004934', 'score': 0.44}]
chr10 GH10I005008 5008377 5009881 0.9 [{'connected_gene': 'AKR1C2', 'score': 12.6}, {'connected_gene': 'LOC101928051', 'score': 10.23}, {'connected_gene': 'ENSG00000239148', 'score': 0.77}]
chr10 GH10I004962 4962365 4965288 1.57 [{'connected_gene': 'AKR1C1', 'score': 560.05}, {'connected_gene': 'ENSG00000238840', 'score': 550.77}, {'connected_gene': 'AKR1C2', 'score': 15.57}, {'connected_gene': 'GDI2', 'score': 14.08}, {'connected_gene': 'LOC105376384', 'score': 11.63}, {'connected_gene': 'LOC101928051', 'score': 5.4}, {'connected_gene': 'GC10P004980', 'score': 0.37}, {'connected_gene': 'GC10M004934', 'score': 0.31}]
chr10 GH10I004963 4962009 4962158 0.31 [{'connected_gene': 'AKR1C1', 'score': 559.55}, {'connected_gene': 'ENSG00000238840', 'score': 550.77}, {'connected_gene': 'AKR1C2', 'score': 19.38}, {'connected_gene': 'GC10P004937', 'score': 0.34}, {'connected_gene': 'GC10M004934', 'score': 0.31}]
chr10 GH10I004803 4803576 4805481 0.43 [{'connected_gene': 'UCN3', 'score': 9.84}, {'connected_gene': 'AKR1C2', 'score': 6.09}, {'connected_gene': 'LOC101928051', 'score': 5.4}, {'connected_gene': 'AKR1E2', 'score': 0.37}, {'connected_gene': 'GC10P004844', 'score': 0.26}]
chr10 GH10I004762 4762151 4773797 1.43 [{'connected_gene': 'LOC105376375', 'score': 550.77}, {'connected_gene': 'AKR1C2', 'score': 4.65}, {'connected_gene': 'LOC105376374', 'score': 0.77}, {'connected_gene': 'AKR1E2', 'score': 0.37}]
chr10 GH10I005013 5013549 5013638 0.43 [{'connected_gene': 'LOC101928051', 'score': 7.02}, {'connected_gene': 'AKR1C2', 'score': 0.77}, {'connected_gene': 'ENSG00000239148', 'score': 0.44}]
chr10 GH10I005003 5003400 5004201 1.12 [{'connected_gene': 'ENSG00000239148', 'score': 550.77}, {'connected_gene': 'AKR1C2', 'score': 19.36}, {'connected_gene': 'LOC101928051', 'score': 8.05}]
chr10 GH10I005002 5002829 5003222 0.43 [{'connected_gene': 'ENSG00000239148', 'score': 550.77}, {'connected_gene': 'AKR1C2', 'score': 6.09}, {'connected_gene': 'LOC101928051', 'score': 0.44}]