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
ENST00000548724 [[25278861, 25281938], [25288242, 25288400], [25325141, 25325307], [25326232, 25326363], [25443870, 25444056], [25479730, 25479846], [25519083, 25519270]] [[25281914, 25281938], [25288242, 25288400], [25325141, 25325307], [25326232, 25326363], [25443870, 25444024]]
ENST00000396700 [[25278861, 25281938], [25288242, 25288400], [25325141, 25325307], [25326232, 25326363], [25443870, 25444056], [25479730, 25479846], [25519083, 25519270]] [[25281914, 25281938], [25288242, 25288400], [25325141, 25325307], [25326232, 25326363], [25443870, 25444024]]
ENST00000323944 [[25278867, 25281938], [25288242, 25288400], [25325141, 25325307], [25326232, 25326363], [25443870, 25444056], [25519083, 25519503]] [[25281914, 25281938], [25288242, 25288400], [25325141, 25325307], [25326232, 25326363], [25443870, 25444024]]
ENST00000419632 [[25281292, 25281938], [25288242, 25288400], [25325141, 25325307], [25326232, 25326363], [25443870, 25444056], [25518412, 25519095]] [[25281914, 25281938], [25288242, 25288400], [25325141, 25325307], [25326232, 25326363], [25443870, 25444024]]
ENST00000546511 [[25281397, 25281938], [25288242, 25288400], [25325141, 25325307], [25326232, 25326363], [25443870, 25444056], [25518165, 25518206]] [[25281914, 25281938], [25288242, 25288400], [25325141, 25325307], [25326232, 25326363], [25443870, 25444024]]
ENST00000550887 [[25281505, 25281938], [25288242, 25288400], [25325141, 25325307], [25326232, 25326363], [25443870, 25444056], [25464069, 25464190], [25479730, 25479846]] [[25281914, 25281938], [25288242, 25288400], [25325141, 25325307], [25326232, 25326363], [25443870, 25444024]]
ENST00000548182 [[25284867, 25287315], [25288242, 25288400], [25325141, 25325307], [25326232, 25326363], [25347857, 25348019], [25443870, 25444056], [25457091, 25457178], [25519083, 25519100]] [[25347975, 25348019], [25443870, 25444024]]
ENST00000358326 [[25287291, 25287315], [25288242, 25288400], [25325141, 25325307], [25326232, 25326363], [25443870, 25444056], [25519083, 25519104]] [[25287291, 25287315], [25288242, 25288400], [25325141, 25325307], [25326232, 25326363], [25443870, 25444024]]
ENST00000548369 [[25281697, 25281938], [25288242, 25288683]] [[25281914, 25281938], [25288242, 25288545]]
NM_001304477 [[25278859, 25281938], [25288242, 25288400], [25325141, 25325307], [25326232, 25326363], [25443870, 25444056], [25518165, 25518206]] [[25281914, 25281938], [25288242, 25288400], [25325141, 25325307], [25326232, 25326363], [25443870, 25444024]]
NM_014178 [[25278859, 25281938], [25288242, 25288400], [25325141, 25325307], [25326232, 25326363], [25443870, 25444056], [25518412, 25519095]] [[25281914, 25281938], [25288242, 25288400], [25325141, 25325307], [25326232, 25326363], [25443870, 25444024]]
NM_001304476 [[25278859, 25281938], [25288242, 25288400], [25325141, 25325307], [25326232, 25326363], [25443870, 25444056], [25479730, 25479846], [25519083, 25519503]] [[25281914, 25281938], [25288242, 25288400], [25325141, 25325307], [25326232, 25326363], [25443870, 25444024]]
Promoter
Chrom Start End Description
chr14 25479779 25479798 CAGE_peak_5_at_STXBP6_5end
chr14 25479811 25479828 CAGE_peak_3_at_STXBP6_5end
chr14 25519205 25519280 CAGE_peak_1_at_STXBP6_5end
chr14 25519317 25519379 CAGE_peak_2_at_STXBP6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I024829 24829330 24830345 0.43 [{'connected_gene': 'NYNRIN', 'score': 10.03}, {'connected_gene': 'NFATC4', 'score': 10.02}, {'connected_gene': 'STXBP6', 'score': 4.65}, {'connected_gene': 'PIR50915', 'score': 0.15}]
chr14 GH14I024982 24982327 24982958 1.13 [{'connected_gene': 'NYNRIN', 'score': 21.33}, {'connected_gene': 'STXBP6', 'score': 17.93}, {'connected_gene': 'NFATC4', 'score': 14.21}, {'connected_gene': 'SDR39U1', 'score': 11.39}, {'connected_gene': 'RNA5SP383', 'score': 10.98}, {'connected_gene': 'MDP1', 'score': 9.69}, {'connected_gene': 'PIR50915', 'score': 0.07}]
chr14 GH14I024860 24860861 24862268 0.94 [{'connected_gene': 'NFATC4', 'score': 5.59}, {'connected_gene': 'PIR50915', 'score': 0.13}, {'connected_gene': 'STXBP6', 'score': 0.09}]
chr14 GH14I024672 24672683 24675617 1.38 [{'connected_gene': 'GZMB', 'score': 34.53}, {'connected_gene': 'GZMH', 'score': 22.99}, {'connected_gene': 'CTSG', 'score': 18.44}, {'connected_gene': 'STXBP6', 'score': 9.7}, {'connected_gene': 'CMA1', 'score': 2.99}, {'connected_gene': 'CIDEB', 'score': 2.34}, {'connected_gene': 'LTB4R', 'score': 2.31}, {'connected_gene': 'RIPK3', 'score': 2.02}, {'connected_gene': 'TINF2', 'score': 1.81}, {'connected_gene': 'KHNYN', 'score': 1.65}, {'connected_gene': 'SDR39U1', 'score': 1.39}, {'connected_gene': 'LOC105370413', 'score': 0.28}, {'connected_gene': 'PIR50915', 'score': 0.21}]
chr14 GH14I024677 24677771 24681743 1.6 [{'connected_gene': 'GZMH', 'score': 40.28}, {'connected_gene': 'GZMB', 'score': 17.15}, {'connected_gene': 'STXBP6', 'score': 9.71}, {'connected_gene': 'CTSG', 'score': 2.42}, {'connected_gene': 'CIDEB', 'score': 1.78}, {'connected_gene': 'KHNYN', 'score': 1.59}, {'connected_gene': 'CMA1', 'score': 1.39}, {'connected_gene': 'RIPK3', 'score': 1.13}, {'connected_gene': 'LOC105370413', 'score': 0.26}, {'connected_gene': 'PIR50915', 'score': 0.23}]
chr14 GH14I025350 25350215 25350364 0.2 [{'connected_gene': 'STXBP6', 'score': 6.83}, {'connected_gene': 'OR7K1P', 'score': 0.44}, {'connected_gene': 'HMGN2P6', 'score': 0.18}]
chr14 GH14I025048 25048117 25051204 1.92 [{'connected_gene': 'STXBP6', 'score': 573.53}, {'connected_gene': 'NYNRIN', 'score': 10.01}, {'connected_gene': 'NFATC4', 'score': 10.01}, {'connected_gene': 'RNF31', 'score': 5.4}, {'connected_gene': 'PIR50915', 'score': 0.06}]
chr14 GH14I024815 24815523 24821596 1.36 [{'connected_gene': 'STXBP6', 'score': 16.86}, {'connected_gene': 'NYNRIN', 'score': 9.82}, {'connected_gene': 'PIR50915', 'score': 0.18}]
chr14 GH14I024879 24879692 24882145 0.46 [{'connected_gene': 'STXBP6', 'score': 9.79}, {'connected_gene': 'GZMB', 'score': 9.58}, {'connected_gene': 'PIR50915', 'score': 0.11}]
chr14 GH14I025009 25009342 25010767 0.69 [{'connected_gene': 'STXBP6', 'score': 19.91}, {'connected_gene': 'KHNYN', 'score': 12.51}, {'connected_gene': 'RNA5SP383', 'score': 11.97}, {'connected_gene': 'NYNRIN', 'score': 11.46}, {'connected_gene': 'SDR39U1', 'score': 11.22}, {'connected_gene': 'RNF31', 'score': 9.95}, {'connected_gene': 'NOP9', 'score': 9.71}, {'connected_gene': 'PIR50915', 'score': 0.06}]
chr14 GH14I024958 24958315 24961369 1.03 [{'connected_gene': 'STXBP6', 'score': 26.26}, {'connected_gene': 'KHNYN', 'score': 21.84}, {'connected_gene': 'RNA5SP383', 'score': 15.81}, {'connected_gene': 'TM9SF1', 'score': 14.36}, {'connected_gene': 'RNF31', 'score': 14.02}, {'connected_gene': 'TINF2', 'score': 13.17}, {'connected_gene': 'CIDEB', 'score': 12.88}, {'connected_gene': 'ENSG00000259321', 'score': 10.09}, {'connected_gene': 'PIR50915', 'score': 0.07}]
chr14 GH14I024804 24804523 24805420 0.63 [{'connected_gene': 'STXBP6', 'score': 11.12}, {'connected_gene': 'CHMP4A', 'score': 4.72}, {'connected_gene': 'CBLN3', 'score': 4.42}, {'connected_gene': 'PIR50915', 'score': 0.19}]
chr14 GH14I024916 24916258 24916460 0.57 [{'connected_gene': 'STXBP6', 'score': 12.81}, {'connected_gene': 'CMA1', 'score': 7.21}, {'connected_gene': 'DHRS4-AS1', 'score': 5.67}, {'connected_gene': 'CTSG', 'score': 3.64}, {'connected_gene': 'PIR50915', 'score': 0.09}]
chr14 GH14I024808 24808289 24811076 0.93 [{'connected_gene': 'STXBP6', 'score': 15.59}, {'connected_gene': 'RIPK3', 'score': 4.31}, {'connected_gene': 'PIR50915', 'score': 0.18}]
chr14 GH14I025055 25055095 25055204 0.2 [{'connected_gene': 'STXBP6', 'score': 0.77}, {'connected_gene': 'LINC02286', 'score': 0.15}]
chr14 GH14I025090 25090575 25091963 0.79 [{'connected_gene': 'STXBP6', 'score': 37.36}, {'connected_gene': 'LINC02286', 'score': 0.2}]
chr14 GH14I025087 25087001 25087400 0.38 [{'connected_gene': 'STXBP6', 'score': 5.59}, {'connected_gene': 'LINC02286', 'score': 0.2}]
chr14 GH14I025120 25120372 25123269 0.84 [{'connected_gene': 'STXBP6', 'score': 9.06}, {'connected_gene': 'LINC02286', 'score': 0.29}]
chr14 GH14I024984 24984327 24986015 1.07 [{'connected_gene': 'STXBP6', 'score': 28.32}, {'connected_gene': 'ENSG00000259321', 'score': 11.85}, {'connected_gene': 'RNA5SP383', 'score': 10.98}, {'connected_gene': 'SDR39U1', 'score': 9.8}, {'connected_gene': 'PIR50915', 'score': 0.07}]
chr14 GH14I024838 24838039 24841008 1.12 [{'connected_gene': 'STXBP6', 'score': 14.93}, {'connected_gene': 'ENSG00000259321', 'score': 10.75}, {'connected_gene': 'RNA5SP383', 'score': 9.97}, {'connected_gene': 'EMC9', 'score': 4.62}, {'connected_gene': 'PIR50915', 'score': 0.14}]
chr14 GH14I025108 25108515 25112155 1.24 [{'connected_gene': 'STXBP6', 'score': 68.63}, {'connected_gene': 'RNA5SP383', 'score': 10.98}, {'connected_gene': 'LINC02286', 'score': 0.25}]
chr14 GH14I024940 24940658 24943730 0.56 [{'connected_gene': 'STXBP6', 'score': 6.29}, {'connected_gene': 'ENSG00000259321', 'score': 4.81}, {'connected_gene': 'PIR50915', 'score': 0.08}]
chr14 GH14I025040 25040969 25042910 0.8 [{'connected_gene': 'STXBP6', 'score': 8.6}, {'connected_gene': 'PIR50915', 'score': 0.06}]
chr14 GH14I024944 24944175 24944897 0.31 [{'connected_gene': 'STXBP6', 'score': 10.7}, {'connected_gene': 'PIR50915', 'score': 0.08}]
chr14 GH14I024874 24874975 24876812 0.83 [{'connected_gene': 'STXBP6', 'score': 9.79}, {'connected_gene': 'PIR50915', 'score': 0.11}]
chr14 GH14I024952 24952927 24954044 0.68 [{'connected_gene': 'STXBP6', 'score': 0.15}, {'connected_gene': 'PIR50915', 'score': 0.08}]
chr14 GH14I025005 25005980 25008593 1.07 [{'connected_gene': 'STXBP6', 'score': 9.69}, {'connected_gene': 'PIR50915', 'score': 0.06}]
chr14 GH14I024900 24900095 24901291 0.31 [{'connected_gene': 'STXBP6', 'score': 6.89}, {'connected_gene': 'PIR50915', 'score': 0.1}]
chr14 GH14I025001 25001029 25002197 0.2 [{'connected_gene': 'STXBP6', 'score': 0.25}, {'connected_gene': 'PIR50915', 'score': 0.06}]
chr14 GH14I024903 24903087 24903402 0.43 [{'connected_gene': 'STXBP6', 'score': 0.11}, {'connected_gene': 'PIR50915', 'score': 0.1}]
chr14 GH14I024945 24944915 24945064 0.38 [{'connected_gene': 'STXBP6', 'score': 18.6}, {'connected_gene': 'PIR50915', 'score': 0.08}]
chr14 GH14I024806 24806295 24806484 0.86 [{'connected_gene': 'STXBP6', 'score': 11.13}, {'connected_gene': 'PIR50915', 'score': 0.19}]
chr14 GH14I024976 24976023 24980458 0.9 [{'connected_gene': 'STXBP6', 'score': 29.0}, {'connected_gene': 'PIR50915', 'score': 0.07}]
chr14 GH14I024904 24903455 24903604 0.46 [{'connected_gene': 'STXBP6', 'score': 0.11}, {'connected_gene': 'PIR50915', 'score': 0.1}]
chr14 GH14I024811 24811837 24815209 0.94 [{'connected_gene': 'STXBP6', 'score': 5.9}, {'connected_gene': 'PIR50915', 'score': 0.18}]
chr14 GH14I025034 25034807 25036010 0.87 [{'connected_gene': 'STXBP6', 'score': 9.78}, {'connected_gene': 'PIR50915', 'score': 0.06}]
chr14 GH14I024965 24965404 24967315 1 [{'connected_gene': 'STXBP6', 'score': 17.77}, {'connected_gene': 'PIR50915', 'score': 0.07}]
chr14 GH14I024954 24954075 24954224 0.62 [{'connected_gene': 'STXBP6', 'score': 0.15}, {'connected_gene': 'PIR50915', 'score': 0.08}]
chr14 GH14I025042 25042975 25043124 0.74 [{'connected_gene': 'STXBP6', 'score': 0.44}, {'connected_gene': 'PIR50915', 'score': 0.06}]
chr14 GH14I024774 24774066 24775505 0.51 [{'connected_gene': 'STXBP6', 'score': 10.05}, {'connected_gene': 'PIR50915', 'score': 0.26}]
chr14 GH14I025014 25014053 25015272 0.52 [{'connected_gene': 'STXBP6', 'score': 32.79}, {'connected_gene': 'PIR50915', 'score': 0.06}]
chr14 GH14I024883 24883473 24884260 0.31 [{'connected_gene': 'STXBP6', 'score': 15.4}, {'connected_gene': 'PIR50915', 'score': 0.11}]
chr14 GH14I025032 25032194 25032745 1.35 [{'connected_gene': 'STXBP6', 'score': 566.25}, {'connected_gene': 'PIR50915', 'score': 0.06}]
chr14 GH14I024876 24876815 24876964 0.31 [{'connected_gene': 'STXBP6', 'score': 9.79}, {'connected_gene': 'PIR50915', 'score': 0.11}]
chr14 GH14I025003 25003220 25004424 0.56 [{'connected_gene': 'STXBP6', 'score': 0.25}, {'connected_gene': 'PIR50915', 'score': 0.06}]
chr14 GH14I024909 24909793 24912220 1.04 [{'connected_gene': 'KHNYN', 'score': 33.67}, {'connected_gene': 'RNA5SP383', 'score': 33.56}, {'connected_gene': 'TM9SF1', 'score': 22.54}, {'connected_gene': 'TINF2', 'score': 21.08}, {'connected_gene': 'NYNRIN', 'score': 20.59}, {'connected_gene': 'NFATC4', 'score': 20.14}, {'connected_gene': 'ENSG00000259321', 'score': 19.13}, {'connected_gene': 'STXBP6', 'score': 16.47}, {'connected_gene': 'RNF31', 'score': 14.02}, {'connected_gene': 'CIDEB', 'score': 12.88}, {'connected_gene': 'SDR39U1', 'score': 10.62}, {'connected_gene': 'PIR50915', 'score': 0.1}]
chr14 GH14I024843 24843045 24844878 1.05 [{'connected_gene': 'CMA1', 'score': 18.24}, {'connected_gene': 'STXBP6', 'score': 16.03}, {'connected_gene': 'CTSG', 'score': 8.47}, {'connected_gene': 'DHRS4', 'score': 4.36}, {'connected_gene': 'PIR50915', 'score': 0.14}]
chr14 GH14I024995 24995199 24995598 0.28 [{'connected_gene': 'CMA1', 'score': 29.36}, {'connected_gene': 'CTSG', 'score': 26.78}, {'connected_gene': 'STXBP6', 'score': 6.89}, {'connected_gene': 'GZMB', 'score': 2.51}, {'connected_gene': 'PIR50915', 'score': 0.07}]
chr14 GH14I024851 24851543 24853393 0.82 [{'connected_gene': 'DHRS4', 'score': 4.39}, {'connected_gene': 'PIR50915', 'score': 0.13}, {'connected_gene': 'STXBP6', 'score': 0.08}]
chr14 GH14I024849 24849248 24849923 0.2 [{'connected_gene': 'DHRS4', 'score': 4.26}, {'connected_gene': 'PIR50915', 'score': 0.13}, {'connected_gene': 'STXBP6', 'score': 0.08}]
chr14 GH14I025132 25132726 25133223 1.08 [{'connected_gene': 'LINC02286', 'score': 12.02}, {'connected_gene': 'STXBP6', 'score': 5.09}]
chr14 GH14I025156 25156227 25156351 0.39 [{'connected_gene': 'LINC02286', 'score': 550.77}, {'connected_gene': 'STXBP6', 'score': 0.14}]
chr14 GH14I025151 25151222 25151875 0.57 [{'connected_gene': 'LINC02286', 'score': 0.77}, {'connected_gene': 'STXBP6', 'score': 0.15}]
chr14 GH14I024870 24870932 24872153 0.94 [{'connected_gene': 'PIR50915', 'score': 0.12}, {'connected_gene': 'STXBP6', 'score': 0.1}]
chr14 GH14I024853 24853535 24853684 0.4 [{'connected_gene': 'PIR50915', 'score': 0.13}, {'connected_gene': 'STXBP6', 'score': 0.08}]
chr14 GH14I024848 24848219 24849186 0.46 [{'connected_gene': 'PIR50915', 'score': 0.14}, {'connected_gene': 'STXBP6', 'score': 0.08}]
chr14 GH14I024863 24863469 24864904 0.4 [{'connected_gene': 'PIR50915', 'score': 0.13}, {'connected_gene': 'STXBP6', 'score': 0.09}]
chr14 GH14I024789 24789435 24789584 0.2 [{'connected_gene': 'PIR50915', 'score': 0.22}, {'connected_gene': 'STXBP6', 'score': 0.07}]
chr14 GH14I024735 24735055 24735184 0.69 [{'connected_gene': 'PIR50915', 'score': 550.77}, {'connected_gene': 'STXBP6', 'score': 0.06}]

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