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
ENST00000299240 [[43380481, 43380663], [43400782, 43400872], [43411201, 43411371], [43413014, 43413126], [43413370, 43413502], [43418258, 43418368], [43418896, 43419041], [43419523, 43419663], [43421437, 43421598], [43422995, 43423108], [43425547, 43425694], [43427063, 43427179], [43427335, 43427501], [43428687, 43428765], [43428902, 43429127], [43436139, 43436326], [43457713, 43457884], [43464874, 43465134], [43465605, 43465759], [43467480, 43468269]] [[43380504, 43380663], [43400782, 43400872], [43411201, 43411371], [43413014, 43413126], [43413370, 43413502], [43418258, 43418368], [43418896, 43419041], [43419523, 43419663], [43421437, 43421598], [43422995, 43423108], [43425547, 43425694], [43427063, 43427179], [43427335, 43427501], [43428687, 43428765], [43428902, 43429127], [43436139, 43436326], [43457713, 43457884], [43464874, 43465134], [43465605, 43465759], [43467480, 43467515]]
ENST00000039989 [[43380490, 43380663], [43400782, 43400872], [43411201, 43411371], [43413014, 43413126], [43413370, 43413502], [43418258, 43418368], [43418896, 43419041], [43419523, 43419663], [43421437, 43421598], [43422995, 43423108], [43425547, 43425694], [43427063, 43427179], [43427335, 43427501], [43428687, 43428765], [43428902, 43429127], [43436139, 43436326], [43464874, 43465134], [43465605, 43465759], [43469551, 43469672], [43471631, 43471791], [43472731, 43472815], [43511788, 43511908], [43513569, 43513713], [43515322, 43516483]] [[43380504, 43380663], [43400782, 43400872], [43411201, 43411371], [43413014, 43413126], [43413370, 43413502], [43418258, 43418368], [43418896, 43419041], [43419523, 43419663], [43421437, 43421598], [43422995, 43423108], [43425547, 43425694], [43427063, 43427179], [43427335, 43427501], [43428687, 43428765], [43428902, 43429127], [43436139, 43436326], [43464874, 43465134], [43465605, 43465759], [43469551, 43469672], [43471631, 43471791], [43472731, 43472815], [43511788, 43511908], [43513569, 43513713], [43515322, 43515454]]
ENST00000534347 [[43380503, 43380663], [43391628, 43391935], [43400782, 43400872], [43411201, 43411371], [43413014, 43413126], [43413370, 43413420]] [[43380504, 43380663], [43391628, 43391634]]
ENST00000525543 [[43470152, 43471791], [43472731, 43472815], [43511788, 43511908], [43513569, 43513713], [43515322, 43516477]] None
ENST00000533072 [[43512267, 43513713], [43515322, 43516483]] None
ENST00000530469 [[43400807, 43400872], [43411201, 43411371], [43413014, 43413338]] None
ENST00000526774 [[43417685, 43418368], [43418896, 43419041], [43419523, 43419663], [43421437, 43421598], [43422995, 43423108], [43425547, 43425694], [43427063, 43427179], [43427335, 43427501], [43428687, 43428765], [43428902, 43429127], [43436139, 43436326], [43457713, 43457884], [43464874, 43465134], [43465605, 43465759], [43467480, 43468094]] None
ENST00000524936 [[43418546, 43419041], [43419523, 43419608]] None
ENST00000525029 [[43419582, 43419663], [43421437, 43421598], [43422995, 43423172]] [[43419582, 43419663], [43421437, 43421598], [43422995, 43423172]]
ENST00000530483 [[43425601, 43425694], [43427063, 43427426]] None
ENST00000534417 [[43457771, 43457884], [43464874, 43465134], [43465605, 43466055]] None
ENST00000525135 [[43469133, 43469672], [43471631, 43471791], [43472731, 43472815], [43511788, 43511908], [43513569, 43513714]] None
ENST00000533554 [[43471687, 43471791], [43472731, 43472815], [43489705, 43489913]] None
ENST00000418561 [[43472729, 43472815], [43507965, 43508001], [43511788, 43511908], [43513569, 43513713], [43515322, 43515511]] [[43472729, 43472815], [43507965, 43508001], [43511788, 43511908], [43513569, 43513713], [43515322, 43515454]]
ENST00000529140 [[43511346, 43511908], [43513569, 43513713], [43515322, 43515633]] None
NM_001307943 [[43380434, 43380663], [43400782, 43400872], [43411201, 43411371], [43413014, 43413126], [43413370, 43413502], [43418258, 43418368], [43418896, 43419041], [43419523, 43419663], [43421437, 43421598], [43422995, 43423108], [43425547, 43425694], [43427063, 43427179], [43427335, 43427501], [43428687, 43428765], [43428902, 43429127], [43436139, 43436326], [43457713, 43457884], [43464874, 43465134], [43465605, 43465759], [43467480, 43468092]] [[43380504, 43380663], [43400782, 43400872], [43411201, 43411371], [43413014, 43413126], [43413370, 43413502], [43418258, 43418368], [43418896, 43419041], [43419523, 43419663], [43421437, 43421598], [43422995, 43423108], [43425547, 43425694], [43427063, 43427179], [43427335, 43427501], [43428687, 43428765], [43428902, 43429127], [43436139, 43436326], [43457713, 43457884], [43464874, 43465134], [43465605, 43465759], [43467480, 43467515]]
NM_018259 [[43380434, 43380663], [43400782, 43400872], [43411201, 43411371], [43413014, 43413126], [43413370, 43413502], [43418258, 43418368], [43418896, 43419041], [43419523, 43419663], [43421437, 43421598], [43422995, 43423108], [43425547, 43425694], [43427063, 43427179], [43427335, 43427501], [43428687, 43428765], [43428902, 43429127], [43436139, 43436326], [43464874, 43465134], [43465605, 43465759], [43469551, 43469672], [43471631, 43471791], [43472731, 43472815], [43511788, 43511908], [43513569, 43513713], [43515322, 43516483]] [[43380504, 43380663], [43400782, 43400872], [43411201, 43411371], [43413014, 43413126], [43413370, 43413502], [43418258, 43418368], [43418896, 43419041], [43419523, 43419663], [43421437, 43421598], [43422995, 43423108], [43425547, 43425694], [43427063, 43427179], [43427335, 43427501], [43428687, 43428765], [43428902, 43429127], [43436139, 43436326], [43464874, 43465134], [43465605, 43465759], [43469551, 43469672], [43471631, 43471791], [43472731, 43472815], [43511788, 43511908], [43513569, 43513713], [43515322, 43515454]]
Promoter
Chrom Start End Description
chr11 43380459 43380537 CAGE_peak_1_at_TTC17_5end
chr11 43380605 43380617 CAGE_peak_2_at_TTC17_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I043375 43375838 43377311 0.66 [{'connected_gene': 'API5', 'score': 5.09}, {'connected_gene': 'ENSG00000255340', 'score': 0.44}, {'connected_gene': 'ENSG00000254907', 'score': 0.37}, {'connected_gene': 'TTC17', 'score': 0.37}]
chr11 GH11I044065 44065295 44067520 2.03 [{'connected_gene': 'ACCS', 'score': 625.6}, {'connected_gene': 'EXT2', 'score': 21.13}, {'connected_gene': 'SEC14L1P1', 'score': 11.64}, {'connected_gene': 'ALKBH3', 'score': 10.54}, {'connected_gene': 'TTC17', 'score': 10.27}, {'connected_gene': 'ALKBH3-AS1', 'score': 10.01}, {'connected_gene': 'C11orf96', 'score': 10.01}, {'connected_gene': 'ENSG00000255165', 'score': 0.44}, {'connected_gene': 'GC11P043987', 'score': 0.18}]
chr11 GH11I043409 43409683 43411527 0.62 [{'connected_gene': 'TTC17', 'score': 5.18}, {'connected_gene': 'API5', 'score': 5.01}, {'connected_gene': 'ENSG00000254577', 'score': 0.34}, {'connected_gene': 'RN7SKP287', 'score': 0.34}]
chr11 GH11I043338 43338646 43339003 0.25 [{'connected_gene': 'TTC17', 'score': 1.64}, {'connected_gene': 'ENSG00000252652', 'score': 0.44}, {'connected_gene': 'ENSG00000254907', 'score': 0.34}, {'connected_gene': 'API5', 'score': 0.31}]
chr11 GH11I043357 43357913 43360918 2.06 [{'connected_gene': 'TTC17', 'score': 564.54}, {'connected_gene': 'ENSG00000254907', 'score': 550.77}, {'connected_gene': 'SEC14L1P1', 'score': 11.57}, {'connected_gene': 'ALKBH3', 'score': 10.48}, {'connected_gene': 'ACCS', 'score': 10.11}, {'connected_gene': 'EXT2', 'score': 9.98}, {'connected_gene': 'API5', 'score': 6.46}, {'connected_gene': 'ENSG00000255340', 'score': 0.31}]
chr11 GH11I043130 43130691 43130840 0.38 [{'connected_gene': 'TTC17', 'score': 5.44}, {'connected_gene': 'ENSG00000254725', 'score': 0.21}, {'connected_gene': 'HNRNPKP3', 'score': 0.12}]
chr11 GH11I043135 43135682 43136870 0.6 [{'connected_gene': 'TTC17', 'score': 5.33}, {'connected_gene': 'ENSG00000254725', 'score': 0.19}, {'connected_gene': 'HNRNPKP3', 'score': 0.12}]
chr11 GH11I043268 43268051 43269875 0.38 [{'connected_gene': 'HNRNPKP3', 'score': 550.77}, {'connected_gene': 'API5', 'score': 6.73}, {'connected_gene': 'TTC17', 'score': 5.38}, {'connected_gene': 'ENSG00000254725', 'score': 0.08}]
chr11 GH11I043941 43941116 43946058 2.13 [{'connected_gene': 'C11orf96', 'score': 550.37}, {'connected_gene': 'SEC14L1P1', 'score': 17.47}, {'connected_gene': 'ALKBH3', 'score': 14.45}, {'connected_gene': 'EXT2', 'score': 14.41}, {'connected_gene': 'ENSG00000254907', 'score': 14.19}, {'connected_gene': 'TTC17', 'score': 13.93}, {'connected_gene': 'ACCS', 'score': 13.88}, {'connected_gene': 'ALKBH3-AS1', 'score': 11.8}, {'connected_gene': 'ENSG00000254409', 'score': 11.8}, {'connected_gene': 'LOC105376644', 'score': 10.33}, {'connected_gene': 'ENSG00000244953', 'score': 6.29}, {'connected_gene': 'ACCSL', 'score': 0.34}]
chr11 GH11I043904 43904592 43907143 1.19 [{'connected_gene': 'ALKBH3', 'score': 27.9}, {'connected_gene': 'LOC105376644', 'score': 21.51}, {'connected_gene': 'PPIAP41', 'score': 17.1}, {'connected_gene': 'API5', 'score': 16.68}, {'connected_gene': 'TTC17', 'score': 10.87}, {'connected_gene': 'SEC14L1P1', 'score': 0.44}, {'connected_gene': 'ALKBH3-AS1', 'score': 0.37}]
chr11 GH11I043366 43366273 43368242 0.97 [{'connected_gene': 'ENSG00000254577', 'score': 11.34}, {'connected_gene': 'API5', 'score': 4.94}, {'connected_gene': 'ENSG00000254907', 'score': 0.44}, {'connected_gene': 'TTC17', 'score': 0.44}, {'connected_gene': 'ENSG00000255340', 'score': 0.37}]
chr11 GH11I043394 43394131 43394220 0.79 [{'connected_gene': 'ENSG00000254907', 'score': 11.68}, {'connected_gene': 'TTC17', 'score': 11.67}, {'connected_gene': 'ENSG00000254577', 'score': 0.77}, {'connected_gene': 'RN7SKP287', 'score': 0.26}]
chr11 GH11I043352 43352201 43352400 0.2 [{'connected_gene': 'ENSG00000254907', 'score': 0.44}, {'connected_gene': 'TTC17', 'score': 0.44}, {'connected_gene': 'ENSG00000252652', 'score': 0.34}]