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
ENST00000321925 [[43304091, 43304238], [43304914, 43304978], [43310264, 43310436], [43310979, 43311169], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43332485]] [[43310285, 43310436], [43310979, 43311169], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43329916]]
ENST00000587601 [[43304114, 43304238], [43304914, 43304978], [43309950, 43310085], [43310979, 43311169], [43314238, 43314297]] [[43311143, 43311169], [43314238, 43314297]]
ENST00000502059 [[43304143, 43304238], [43304914, 43304978], [43307225, 43307383], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43331141]] [[43307366, 43307383], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43329916]]
ENST00000586951 [[43304148, 43304238], [43304914, 43304978], [43307296, 43307383], [43310264, 43310436], [43310979, 43311135]] [[43310285, 43310436], [43310979, 43311135]]
ENST00000589322 [[43304148, 43304238], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319584]] [[43314293, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319584]]
ENST00000415427 [[43304148, 43304238], [43304914, 43304978], [43307225, 43307383], [43310264, 43310436], [43310979, 43311169], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43329967]] [[43307236, 43307383], [43310264, 43310436], [43310979, 43311169], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43329916]]
ENST00000535474 [[43304148, 43304238], [43304914, 43304978], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43329981]] [[43314293, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43329916]]
ENST00000402943 [[43304148, 43304238], [43304914, 43304978], [43310979, 43311169], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43330133]] [[43311143, 43311169], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43329916]]
ENST00000588179 [[43304160, 43304238], [43304914, 43304978], [43307225, 43307383], [43310264, 43310436], [43310979, 43311169], [43314238, 43314367], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43330300]] [[43307236, 43307383], [43310264, 43310436], [43310979, 43311169], [43314238, 43314367], [43319127, 43319134]]
ENST00000586056 [[43304855, 43304978], [43310264, 43310436], [43310979, 43311169], [43314238, 43314305]] [[43310285, 43310436], [43310979, 43311169], [43314238, 43314305]]
ENST00000436407 [[43306689, 43307383], [43310264, 43310436], [43310979, 43311169], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43330295]] [[43307236, 43307383], [43310264, 43310436], [43310979, 43311169], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43329916]]
ENST00000589891 [[43307022, 43307383], [43310264, 43310436], [43310979, 43311048]] [[43307236, 43307383], [43310264, 43310436], [43310979, 43311048]]
ENST00000590246 [[43307338, 43307383], [43310979, 43311169], [43314238, 43314367], [43316420, 43316613]] [[43311143, 43311169], [43314238, 43314367], [43316420, 43316613]]
ENST00000591943 [[43307338, 43307383], [43310264, 43310436], [43310979, 43311169], [43314238, 43314367], [43319127, 43319186]] None
ENST00000586142 [[43308993, 43310436], [43310979, 43311169], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43330300]] [[43310285, 43310436], [43310979, 43311169], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43329916]]
ENST00000589700 [[43310285, 43310436], [43310979, 43311169], [43314238, 43314367], [43316420, 43316613], [43319492, 43319627], [43328340, 43328390], [43329742, 43329916]] [[43310285, 43310436], [43310979, 43311169], [43314238, 43314367], [43316420, 43316613], [43319492, 43319627], [43328340, 43328390], [43329742, 43329803]]
ENST00000590377 [[43311105, 43311169], [43314238, 43314367], [43316420, 43316613], [43328340, 43328390], [43332142, 43332485]] [[43311105, 43311169], [43314238, 43314367], [43316420, 43316613], [43328340, 43328390], [43332142, 43332227]]
ENST00000591642 [[43314081, 43314367], [43316420, 43316613], [43319127, 43319213]] None
ENST00000586854 [[43316517, 43316613], [43319127, 43319275], [43319492, 43319825]] None
ENST00000591541 [[43319466, 43319627], [43328340, 43328390], [43329742, 43330085]] [[43319569, 43319627], [43328340, 43328390], [43329742, 43329916]]
NM_001308279 [[43304087, 43304238], [43304914, 43304978], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43332485]] [[43314293, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43329916]]
NM_001308278 [[43304087, 43304238], [43304914, 43304978], [43310979, 43311169], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43332485]] [[43311143, 43311169], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43329916]]
NM_015865 [[43304091, 43304238], [43304914, 43304978], [43310264, 43310436], [43310979, 43311169], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43332485]] [[43310285, 43310436], [43310979, 43311169], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43329916]]
NM_001146036 [[43304091, 43304238], [43304914, 43304978], [43307296, 43307383], [43310264, 43310436], [43310979, 43311169], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43332485]] [[43310285, 43310436], [43310979, 43311169], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43329916]]
NM_001128588 [[43304091, 43304238], [43304914, 43304978], [43307225, 43307383], [43310264, 43310436], [43310979, 43311169], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43332485]] [[43307236, 43307383], [43310264, 43310436], [43310979, 43311169], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43329916]]
NM_001146037 [[43306917, 43307383], [43310264, 43310436], [43310979, 43311169], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43332485]] [[43307236, 43307383], [43310264, 43310436], [43310979, 43311169], [43314238, 43314367], [43316420, 43316613], [43319127, 43319275], [43319492, 43319627], [43328340, 43328390], [43329742, 43329916]]
Promoter
Chrom Start End Description
chr18 43303741 43303750 CAGE_peak_7_at_SLC14A1_5end
chr18 43304110 43304121 CAGE_peak_2_at_SLC14A1_5end
chr18 43304137 43304155 CAGE_peak_1_at_SLC14A1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I045717 45717133 45717147 0.24 [{'connected_gene': 'SLC14A2', 'score': 3.82}, {'connected_gene': 'LOC105372092', 'score': 0.77}, {'connected_gene': 'SLC14A1', 'score': 0.44}, {'connected_gene': 'LOC105372093', 'score': 0.2}]
chr18 GH18I045726 45726678 45726737 0.68 [{'connected_gene': 'SLC14A1', 'score': 550.77}, {'connected_gene': 'EPG5', 'score': 4.8}, {'connected_gene': 'GC18M045733', 'score': 0.31}, {'connected_gene': 'LOC105372093', 'score': 0.22}]
chr18 GH18I045685 45685936 45689606 1.45 [{'connected_gene': 'SLC14A1', 'score': 5.19}, {'connected_gene': 'EPG5', 'score': 1.18}, {'connected_gene': 'LOC105372092', 'score': 0.31}, {'connected_gene': 'ENSG00000266968', 'score': 0.26}, {'connected_gene': 'LOC105372093', 'score': 0.15}]
chr18 GH18I045747 45747726 45750881 0.57 [{'connected_gene': 'SLC14A1', 'score': 12.09}, {'connected_gene': 'GC18M045733', 'score': 0.44}, {'connected_gene': 'LOC105372093', 'score': 0.29}]
chr18 GH18I045764 45764097 45764342 0.53 [{'connected_gene': 'SLC14A1', 'score': 7.75}, {'connected_gene': 'GC18M045733', 'score': 0.44}, {'connected_gene': 'LOC105372093', 'score': 0.37}]
chr18 GH18I045777 45777118 45778059 0.63 [{'connected_gene': 'SLC14A1', 'score': 7.06}, {'connected_gene': 'LOC105372093', 'score': 0.44}, {'connected_gene': 'GC18M045733', 'score': 0.34}]
chr18 GH18I045723 45723801 45724800 0.88 [{'connected_gene': 'SLC14A1', 'score': 557.44}, {'connected_gene': 'GC18M045733', 'score': 0.29}, {'connected_gene': 'LOC105372093', 'score': 0.22}]
chr18 GH18I045738 45738800 45739001 0.43 [{'connected_gene': 'SLC14A1', 'score': 0.37}, {'connected_gene': 'GC18M045733', 'score': 0.37}, {'connected_gene': 'LOC105372093', 'score': 0.26}]
chr18 GH18I045746 45745416 45746389 0.46 [{'connected_gene': 'SLC14A1', 'score': 11.28}, {'connected_gene': 'GC18M045733', 'score': 0.39}, {'connected_gene': 'LOC105372093', 'score': 0.28}]
chr18 GH18I045759 45759655 45761077 0.31 [{'connected_gene': 'SLC14A1', 'score': 11.72}, {'connected_gene': 'GC18M045733', 'score': 0.77}, {'connected_gene': 'LOC105372093', 'score': 0.34}]
chr18 GH18I045666 45665518 45667682 1.17 [{'connected_gene': 'SLC14A1', 'score': 6.27}, {'connected_gene': 'ENSG00000266968', 'score': 0.34}, {'connected_gene': 'LOC105372092', 'score': 0.25}, {'connected_gene': 'GC18P045609', 'score': 0.22}, {'connected_gene': 'SLC14A2', 'score': 0.05}]
chr18 GH18I045691 45691201 45691660 1.09 [{'connected_gene': 'SLC14A1', 'score': 4.47}, {'connected_gene': 'LOC105372092', 'score': 0.34}, {'connected_gene': 'ENSG00000266968', 'score': 0.25}, {'connected_gene': 'LOC105372093', 'score': 0.16}]
chr18 GH18I045684 45683801 45685043 0.71 [{'connected_gene': 'SLC14A1', 'score': 6.51}, {'connected_gene': 'LOC105372092', 'score': 0.31}, {'connected_gene': 'ENSG00000266968', 'score': 0.28}, {'connected_gene': 'LOC105372093', 'score': 0.15}]
chr18 GH18I045722 45722801 45723201 1.01 [{'connected_gene': 'SLC14A1', 'score': 550.77}, {'connected_gene': 'LOC105372092', 'score': 0.44}, {'connected_gene': 'LOC105372093', 'score': 0.22}]
chr18 GH18I045792 45792383 45794113 1.42 [{'connected_gene': 'EPG5', 'score': 7.21}, {'connected_gene': 'SLC14A1', 'score': 6.46}, {'connected_gene': 'PSTPIP2', 'score': 3.07}, {'connected_gene': 'ENSG00000267558', 'score': 0.77}, {'connected_gene': 'GC18P045808', 'score': 0.37}]
chr18 GH18I045730 45730222 45731966 0.38 [{'connected_gene': 'SIGLEC15', 'score': 11.82}, {'connected_gene': 'SLC14A1', 'score': 7.8}, {'connected_gene': 'EPG5', 'score': 5.09}, {'connected_gene': 'GC18M045733', 'score': 0.34}, {'connected_gene': 'LOC105372093', 'score': 0.23}]
chr18 GH18I045779 45779603 45781246 0.2 [{'connected_gene': 'SIGLEC15', 'score': 12.33}, {'connected_gene': 'SLC14A1', 'score': 7.23}, {'connected_gene': 'EPG5', 'score': 4.6}, {'connected_gene': 'LOC105372093', 'score': 0.77}, {'connected_gene': 'GC18M045733', 'score': 0.34}]
chr18 GH18I045801 45801215 45804786 1.2 [{'connected_gene': 'SIGLEC15', 'score': 13.76}, {'connected_gene': 'SLC14A1', 'score': 7.09}, {'connected_gene': 'EPG5', 'score': 4.57}, {'connected_gene': 'GC18P045808', 'score': 0.44}, {'connected_gene': 'ENSG00000267558', 'score': 0.39}]
chr18 GH18I045771 45771427 45772426 0.66 [{'connected_gene': 'SIGLEC15', 'score': 7.33}, {'connected_gene': 'SLC14A1', 'score': 5.77}, {'connected_gene': 'LOC105372093', 'score': 0.39}, {'connected_gene': 'GC18M045733', 'score': 0.37}]
chr18 GH18I045727 45727638 45727655 0.25 [{'connected_gene': 'SIGLEC15', 'score': 11.81}, {'connected_gene': 'SLC14A1', 'score': 0.77}, {'connected_gene': 'GC18M045733', 'score': 0.31}, {'connected_gene': 'LOC105372093', 'score': 0.22}]
chr18 GH18I045728 45728736 45728885 0.43 [{'connected_gene': 'SIGLEC15', 'score': 11.81}, {'connected_gene': 'EPG5', 'score': 4.76}, {'connected_gene': 'SLC14A1', 'score': 0.44}, {'connected_gene': 'GC18M045733', 'score': 0.31}, {'connected_gene': 'LOC105372093', 'score': 0.23}]
chr18 GH18I045782 45782310 45784705 1.06 [{'connected_gene': 'LOC105372093', 'score': 550.77}, {'connected_gene': 'SLC14A1', 'score': 7.13}, {'connected_gene': 'EPG5', 'score': 4.5}, {'connected_gene': 'ENSG00000267558', 'score': 0.44}]
chr18 GH18I045745 45745256 45745405 0.31 [{'connected_gene': 'GC18M045733', 'score': 0.39}, {'connected_gene': 'SLC14A1', 'score': 0.34}, {'connected_gene': 'LOC105372093', 'score': 0.28}]
chr18 GH18I045756 45756056 45756205 0.79 [{'connected_gene': 'GC18M045733', 'score': 550.77}, {'connected_gene': 'HAUS1', 'score': 52.65}, {'connected_gene': 'SLC14A1', 'score': 11.35}, {'connected_gene': 'EPG5', 'score': 10.33}, {'connected_gene': 'LOC105372093', 'score': 0.31}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.