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
ENST00000343289 [[104845939, 104849665], [104850367, 104850544], [104850692, 104850753], [104851320, 104851372], [104852895, 104853066], [104853728, 104853795], [104854104, 104854212], [104855695, 104855737], [104857047, 104857131], [104858687, 104858741], [104859682, 104859776], [104860801, 104860859], [104860991, 104861083], [104865462, 104865558], [104866345, 104866463], [104899162, 104899236], [104934614, 104934739], [104952992, 104953056]] [[104849428, 104849665], [104850367, 104850544], [104850692, 104850753], [104851320, 104851372], [104852895, 104853066], [104853728, 104853795], [104854104, 104854212], [104855695, 104855737], [104857047, 104857131], [104858687, 104858741], [104859682, 104859776], [104860801, 104860859], [104860991, 104861083], [104865462, 104865558], [104866345, 104866463], [104899162, 104899236], [104934614, 104934715]]
ENST00000404739 [[104847773, 104849665], [104850367, 104850544], [104850692, 104850753], [104851320, 104851372], [104852895, 104853066], [104853728, 104853795], [104854104, 104854212], [104855695, 104855737], [104857047, 104857131], [104858687, 104858741], [104859682, 104859776], [104860801, 104860859], [104860991, 104861083], [104865462, 104865558], [104866345, 104866463], [104899162, 104899236], [104934614, 104934739]] [[104849428, 104849665], [104850367, 104850544], [104850692, 104850753], [104851320, 104851372], [104852895, 104853066], [104853728, 104853795], [104854104, 104854212], [104855695, 104855737], [104857047, 104857131], [104858687, 104858741], [104859682, 104859776], [104860801, 104860859], [104860991, 104861083], [104865462, 104865558], [104866345, 104866463], [104899162, 104899236], [104934614, 104934715]]
ENST00000369857 [[104848673, 104849665], [104850367, 104850544], [104850692, 104850753], [104851320, 104851372], [104852895, 104853066], [104853728, 104853795], [104854104, 104854212], [104855695, 104855737], [104857047, 104857131], [104858687, 104858741], [104859682, 104859776], [104860419, 104860700], [104860801, 104860859], [104860991, 104861083], [104865114, 104865138], [104865462, 104865558], [104871501, 104871562], [104899162, 104899236], [104952992, 104953029]] None
ENST00000423468 [[104849341, 104849665], [104850367, 104850544], [104850692, 104850753], [104851320, 104851372], [104852895, 104853066], [104853728, 104853795], [104854104, 104854212], [104855695, 104855737], [104857047, 104857131], [104858687, 104858741], [104859682, 104859776], [104860801, 104860859], [104860991, 104861083], [104865462, 104865558], [104866345, 104866463], [104899162, 104899236], [104913047, 104913384]] [[104849428, 104849665], [104850367, 104850544], [104850692, 104850753], [104851320, 104851372], [104852895, 104853066], [104853728, 104853795], [104854104, 104854212], [104855695, 104855737], [104857047, 104857131], [104858687, 104858741], [104859682, 104859776], [104860801, 104860859], [104860991, 104861083], [104865462, 104865558], [104866345, 104866463], [104899162, 104899236], [104913047, 104913061]]
ENST00000452156 [[104857047, 104857131], [104858687, 104858741], [104859682, 104859776], [104860801, 104860859], [104860991, 104861083], [104865114, 104865138], [104865462, 104865558], [104866345, 104866463], [104899162, 104899236], [104934614, 104934739], [104952992, 104953029]] [[104857047, 104857131], [104858687, 104858741], [104859682, 104859776], [104860801, 104860859], [104860991, 104861083], [104865114, 104865138], [104865462, 104865558], [104866345, 104866463], [104899162, 104899236], [104934614, 104934715]]
ENST00000461461 [[104857064, 104857131], [104858687, 104858741], [104859682, 104859776], [104860801, 104860859], [104860991, 104861083], [104865462, 104865558], [104866345, 104866463], [104871501, 104871562], [104899162, 104899236], [104934614, 104934739], [104952992, 104953055]] [[104871548, 104871562], [104899162, 104899236], [104934614, 104934715]]
ENST00000421281 [[104849597, 104849665], [104850692, 104850753], [104851320, 104851372], [104852895, 104853066], [104853728, 104853795], [104854104, 104854125]] [[104849597, 104849665], [104850692, 104850753], [104851320, 104851372], [104852895, 104853066], [104853728, 104853795], [104854104, 104854125]]
ENST00000469228 [[104853488, 104853795], [104854104, 104854292]] None
ENST00000458345 [[104857728, 104857845], [104858687, 104858741], [104859682, 104859776], [104860801, 104860859], [104860991, 104861083], [104865114, 104865138], [104865462, 104865558], [104866345, 104866407]] [[104857800, 104857845], [104858687, 104858741], [104859682, 104859776], [104860801, 104860859], [104860991, 104861083], [104865114, 104865138], [104865462, 104865558], [104866345, 104866407]]
ENST00000470228 [[104858148, 104858741], [104859682, 104859776], [104860801, 104860859], [104860991, 104861083], [104865462, 104865516]] None
ENST00000552185 [[104858727, 104858741], [104859682, 104859776], [104860508, 104860700], [104860801, 104860859], [104860991, 104861083], [104865462, 104865558], [104866345, 104866441]] [[104860570, 104860700], [104860801, 104860859], [104860991, 104861083], [104865462, 104865558], [104866345, 104866441]]
ENST00000487810 [[104859682, 104859776], [104860801, 104860859], [104860991, 104861083], [104865462, 104865558], [104866345, 104866463], [104871501, 104871562], [104899162, 104899236], [104899873, 104899949]] None
ENST00000481549 [[104860624, 104860700], [104860801, 104860859], [104860991, 104861083], [104865462, 104865558], [104866345, 104866444]] None
ENST00000470299 [[104871501, 104871562], [104934614, 104934739], [104952992, 104953055]] [[104871528, 104871562], [104934614, 104934715]]
ENST00000467380 [[104929040, 104929206], [104934614, 104934739], [104940941, 104941077]] None
NM_012229 [[104847773, 104849665], [104850367, 104850544], [104850692, 104850753], [104851320, 104851372], [104852895, 104853066], [104853728, 104853795], [104854104, 104854212], [104855695, 104855737], [104857047, 104857131], [104858687, 104858741], [104859682, 104859776], [104860801, 104860859], [104860991, 104861083], [104865462, 104865558], [104866345, 104866463], [104899162, 104899236], [104934614, 104934739], [104940987, 104941085], [104952992, 104953063]] [[104849428, 104849665], [104850367, 104850544], [104850692, 104850753], [104851320, 104851372], [104852895, 104853066], [104853728, 104853795], [104854104, 104854212], [104855695, 104855737], [104857047, 104857131], [104858687, 104858741], [104859682, 104859776], [104860801, 104860859], [104860991, 104861083], [104865462, 104865558], [104866345, 104866463], [104899162, 104899236], [104934614, 104934715]]
NM_001134373 [[104847773, 104849665], [104850367, 104850544], [104850692, 104850753], [104851320, 104851372], [104852895, 104853066], [104853728, 104853795], [104854104, 104854212], [104855695, 104855737], [104857047, 104857131], [104858687, 104858741], [104859682, 104859776], [104860801, 104860859], [104860991, 104861083], [104865462, 104865558], [104866345, 104866463], [104899162, 104899236], [104934614, 104934739], [104952992, 104953063]] [[104849428, 104849665], [104850367, 104850544], [104850692, 104850753], [104851320, 104851372], [104852895, 104853066], [104853728, 104853795], [104854104, 104854212], [104855695, 104855737], [104857047, 104857131], [104858687, 104858741], [104859682, 104859776], [104860801, 104860859], [104860991, 104861083], [104865462, 104865558], [104866345, 104866463], [104899162, 104899236], [104934614, 104934715]]
Promoter
Chrom Start End Description
chr10 104866395 104866421 CAGE_peak_4_at_NT5C2_5end
chr10 104913066 104913124 CAGE_peak_2_at_NT5C2_5end
chr10 104913128 104913151 CAGE_peak_6_at_NT5C2_5end
chr10 104913215 104913221 CAGE_peak_16_at_NT5C2_5end
chr10 104913332 104913343 CAGE_peak_8_at_NT5C2_5end
chr10 104913346 104913363 CAGE_peak_5_at_NT5C2_5end
chr10 104913367 104913393 CAGE_peak_3_at_NT5C2_5end
chr10 104953009 104953061 CAGE_peak_1_at_NT5C2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I103470 103470393 103473473 1.32 [{'connected_gene': 'NEURL1', 'score': 11.72}, {'connected_gene': 'AS3MT', 'score': 11.13}, {'connected_gene': 'NEURL1-AS1', 'score': 10.36}, {'connected_gene': 'CALHM2', 'score': 10.18}, {'connected_gene': 'RNU11-3P', 'score': 9.21}, {'connected_gene': 'NT5C2', 'score': 1.23}, {'connected_gene': 'CALHM3', 'score': 0.44}, {'connected_gene': 'CALHM1', 'score': 0.39}]
chr10 GH10I103207 103207282 103208224 0.38 [{'connected_gene': 'AS3MT', 'score': 13.88}, {'connected_gene': 'INA', 'score': 11.8}, {'connected_gene': 'RPEL1', 'score': 10.33}, {'connected_gene': 'ST13P13', 'score': 0.44}, {'connected_gene': 'NT5C2', 'score': 0.39}]
chr10 GH10I102818 102818201 102820026 1.21 [{'connected_gene': 'AS3MT', 'score': 32.14}, {'connected_gene': 'WBP1L', 'score': 7.8}, {'connected_gene': 'BORCS7', 'score': 7.79}, {'connected_gene': 'NFKB2', 'score': 7.78}, {'connected_gene': 'NT5C2', 'score': 4.13}, {'connected_gene': 'CYP17A1-AS1', 'score': 0.39}, {'connected_gene': 'RNU6-1231P', 'score': 0.37}]
chr10 GH10I103203 103203667 103206368 0.97 [{'connected_gene': 'AS3MT', 'score': 15.48}, {'connected_gene': 'CALHM2', 'score': 6.26}, {'connected_gene': 'NT5C2', 'score': 0.39}, {'connected_gene': 'ST13P13', 'score': 0.39}]
chr10 GH10I103110 103110445 103112443 0.99 [{'connected_gene': 'AS3MT', 'score': 37.06}, {'connected_gene': 'PDCD11', 'score': 21.99}, {'connected_gene': 'PPRC1', 'score': 21.43}, {'connected_gene': 'CNNM2', 'score': 11.19}, {'connected_gene': 'GBF1', 'score': 11.16}, {'connected_gene': 'PTGES3P4', 'score': 10.91}, {'connected_gene': 'PFN1P11', 'score': 10.91}, {'connected_gene': 'CYP17A1', 'score': 10.9}, {'connected_gene': 'RNU11-3P', 'score': 10.55}, {'connected_gene': 'MARCKSL1P1', 'score': 10.15}, {'connected_gene': 'PIR32358', 'score': 0.39}, {'connected_gene': 'GC10M103094', 'score': 0.39}, {'connected_gene': 'NT5C2', 'score': 0.18}]
chr10 GH10I103202 103202001 103203199 0.69 [{'connected_gene': 'AS3MT', 'score': 27.8}, {'connected_gene': 'NT5C2', 'score': 0.44}, {'connected_gene': 'ST13P13', 'score': 0.39}]
chr10 GH10I102835 102835004 102835413 1.2 [{'connected_gene': 'AS3MT', 'score': 42.46}, {'connected_gene': 'NT5C2', 'score': 4.47}, {'connected_gene': 'CYP17A1', 'score': 0.77}, {'connected_gene': 'CYP17A1-AS1', 'score': 0.77}]
chr10 GH10I103151 103151959 103156369 1.26 [{'connected_gene': 'AS3MT', 'score': 36.86}, {'connected_gene': 'NT5C2', 'score': 12.33}, {'connected_gene': 'MARCKSL1P1', 'score': 10.56}, {'connected_gene': 'RNU11-3P', 'score': 10.1}, {'connected_gene': 'PIR33793', 'score': 0.34}]
chr10 GH10I102785 102785073 102787325 1.28 [{'connected_gene': 'AS3MT', 'score': 37.71}, {'connected_gene': 'CYP17A1', 'score': 11.58}, {'connected_gene': 'PTGES3P4', 'score': 11.57}, {'connected_gene': 'PFN1P11', 'score': 11.57}, {'connected_gene': 'BORCS7', 'score': 11.46}, {'connected_gene': 'CNNM2', 'score': 10.09}, {'connected_gene': 'SFXN2', 'score': 8.66}, {'connected_gene': 'NFKB2', 'score': 8.46}, {'connected_gene': 'NT5C2', 'score': 3.92}, {'connected_gene': 'RNU6-1231P', 'score': 0.37}, {'connected_gene': 'GC10P102745', 'score': 0.26}, {'connected_gene': 'GC10P102744', 'score': 0.26}, {'connected_gene': 'WBP1L', 'score': 0.25}]
chr10 GH10I103166 103166070 103167018 0.43 [{'connected_gene': 'AS3MT', 'score': 36.86}, {'connected_gene': 'BORCS7', 'score': 14.21}, {'connected_gene': 'MARCKSL1P1', 'score': 0.44}, {'connected_gene': 'NT5C2', 'score': 0.31}, {'connected_gene': 'PIR33793', 'score': 0.29}]
chr10 GH10I103112 103112704 103112853 0.54 [{'connected_gene': 'AS3MT', 'score': 36.93}, {'connected_gene': 'RNU11-3P', 'score': 10.55}, {'connected_gene': 'PIR32358', 'score': 0.44}, {'connected_gene': 'GC10M103094', 'score': 0.39}, {'connected_gene': 'NT5C2', 'score': 0.18}]
chr10 GH10I103199 103199201 103200000 0.51 [{'connected_gene': 'AS3MT', 'score': 13.92}, {'connected_gene': 'MARCKSL1P1', 'score': 8.52}, {'connected_gene': 'NT5C2', 'score': 0.44}, {'connected_gene': 'ST13P13', 'score': 0.37}]
chr10 GH10I103180 103180010 103183179 1.04 [{'connected_gene': 'AS3MT', 'score': 36.89}, {'connected_gene': 'MARCKSL1P1', 'score': 10.34}, {'connected_gene': 'GC10P103176', 'score': 0.44}, {'connected_gene': 'GC10P103194', 'score': 0.39}, {'connected_gene': 'NT5C2', 'score': 0.39}]
chr10 GH10I103167 103167599 103169661 0.69 [{'connected_gene': 'AS3MT', 'score': 36.94}, {'connected_gene': 'MARCKSL1P1', 'score': 10.33}, {'connected_gene': 'NT5C2', 'score': 0.34}, {'connected_gene': 'PIR33793', 'score': 0.28}]
chr10 GH10I103196 103196476 103198600 1.7 [{'connected_gene': 'AS3MT', 'score': 36.97}, {'connected_gene': 'MARCKSL1P1', 'score': 8.66}, {'connected_gene': 'BORCS7', 'score': 8.46}, {'connected_gene': 'NT5C2', 'score': 7.14}, {'connected_gene': 'ST13P13', 'score': 0.37}]
chr10 GH10I103183 103183490 103187242 1.11 [{'connected_gene': 'AS3MT', 'score': 36.98}, {'connected_gene': 'MARCKSL1P1', 'score': 9.2}, {'connected_gene': 'BORCS7', 'score': 6.83}, {'connected_gene': 'GC10P103194', 'score': 0.44}, {'connected_gene': 'NT5C2', 'score': 0.44}, {'connected_gene': 'GC10P103176', 'score': 0.44}]
chr10 GH10I103143 103143786 103147473 0.97 [{'connected_gene': 'AS3MT', 'score': 34.77}, {'connected_gene': 'MARCKSL1P1', 'score': 10.56}, {'connected_gene': 'RNU11-3P', 'score': 9.71}, {'connected_gene': 'PIR33793', 'score': 0.39}, {'connected_gene': 'NT5C2', 'score': 0.25}]
chr10 GH10I102772 102772772 102784599 2.13 [{'connected_gene': 'WBP1L', 'score': 561.36}, {'connected_gene': 'SFXN2', 'score': 29.19}, {'connected_gene': 'AS3MT', 'score': 19.24}, {'connected_gene': 'ARL3', 'score': 15.2}, {'connected_gene': 'PPRC1', 'score': 13.49}, {'connected_gene': 'NFKB2', 'score': 13.12}, {'connected_gene': 'LDB1', 'score': 12.34}, {'connected_gene': 'PDCD11', 'score': 11.82}, {'connected_gene': 'BORCS7', 'score': 11.53}, {'connected_gene': 'CYP17A1', 'score': 11.47}, {'connected_gene': 'PTGES3P4', 'score': 11.45}, {'connected_gene': 'PFN1P11', 'score': 11.45}, {'connected_gene': 'CALHM2', 'score': 10.48}, {'connected_gene': 'CNNM2', 'score': 10.18}, {'connected_gene': 'HPS6', 'score': 9.88}, {'connected_gene': 'CYP17A1-AS1', 'score': 6.16}, {'connected_gene': 'NT5C2', 'score': 2.56}, {'connected_gene': 'RNU6-1231P', 'score': 0.31}, {'connected_gene': 'GC10P102745', 'score': 0.29}, {'connected_gene': 'GC10P102744', 'score': 0.29}]
chr10 GH10I102798 102798937 102804608 1.42 [{'connected_gene': 'NFKB2', 'score': 16.61}, {'connected_gene': 'BORCS7', 'score': 11.53}, {'connected_gene': 'AS3MT', 'score': 11.3}, {'connected_gene': 'WBP1L', 'score': 8.84}, {'connected_gene': 'SFXN2', 'score': 8.11}, {'connected_gene': 'NT5C2', 'score': 4.1}, {'connected_gene': 'MFSD13A', 'score': 3.66}, {'connected_gene': 'RNU6-1231P', 'score': 0.77}, {'connected_gene': 'GC10P102745', 'score': 0.22}, {'connected_gene': 'GC10P102744', 'score': 0.22}]
chr10 GH10I103215 103215332 103216985 0.49 [{'connected_gene': 'ST13P13', 'score': 550.77}, {'connected_gene': 'NT5C2', 'score': 12.72}, {'connected_gene': 'INA', 'score': 11.24}, {'connected_gene': 'RNU11-3P', 'score': 10.35}, {'connected_gene': 'AS3MT', 'score': 5.6}, {'connected_gene': 'RPEL1', 'score': 0.31}]
chr10 GH10I103190 103190107 103194573 2.5 [{'connected_gene': 'NT5C2', 'score': 555.02}, {'connected_gene': 'GC10P103194', 'score': 550.77}, {'connected_gene': 'AS3MT', 'score': 36.97}, {'connected_gene': 'MARCKSL1P1', 'score': 10.26}, {'connected_gene': 'BORCS7', 'score': 8.08}, {'connected_gene': 'SFXN2', 'score': 4.78}, {'connected_gene': 'WBP1L', 'score': 2.39}, {'connected_gene': 'GC10P103176', 'score': 0.37}]
chr10 GH10I103237 103237885 103242851 1.46 [{'connected_gene': 'BORCS7', 'score': 19.96}, {'connected_gene': 'NT5C2', 'score': 19.81}, {'connected_gene': 'AS3MT', 'score': 17.47}, {'connected_gene': 'INA', 'score': 11.03}, {'connected_gene': 'CNNM2', 'score': 10.86}, {'connected_gene': 'PFN1P11', 'score': 10.79}, {'connected_gene': 'PTGES3P4', 'score': 10.67}, {'connected_gene': 'CYP17A1', 'score': 10.67}, {'connected_gene': 'RNU11-3P', 'score': 10.52}, {'connected_gene': 'ARL3', 'score': 9.13}, {'connected_gene': 'SFXN2', 'score': 9.13}, {'connected_gene': 'CALHM2', 'score': 7.72}, {'connected_gene': 'RPEL1', 'score': 0.44}, {'connected_gene': 'ST13P13', 'score': 0.34}]
chr10 GH10I102794 102794602 102797999 1.43 [{'connected_gene': 'BORCS7', 'score': 14.02}, {'connected_gene': 'SFXN2', 'score': 8.7}, {'connected_gene': 'AS3MT', 'score': 8.62}, {'connected_gene': 'NFKB2', 'score': 6.62}, {'connected_gene': 'NT5C2', 'score': 5.95}, {'connected_gene': 'C10orf95', 'score': 4.5}, {'connected_gene': 'RNU6-1231P', 'score': 0.44}, {'connected_gene': 'GC10P102745', 'score': 0.23}, {'connected_gene': 'GC10P102744', 'score': 0.23}, {'connected_gene': 'WBP1L', 'score': 0.22}]
chr10 GH10I103175 103175252 103178583 0.54 [{'connected_gene': 'MARCKSL1P1', 'score': 550.77}, {'connected_gene': 'GC10P103176', 'score': 550.77}, {'connected_gene': 'AS3MT', 'score': 36.87}, {'connected_gene': 'GC10P103194', 'score': 0.37}, {'connected_gene': 'NT5C2', 'score': 0.37}]
chr10 GH10I103144 103143249 103143635 0.36 [{'connected_gene': 'MARCKSL1P1', 'score': 9.53}, {'connected_gene': 'NT5C2', 'score': 2.48}, {'connected_gene': 'BORCS7', 'score': 1.78}, {'connected_gene': 'PIR33793', 'score': 0.39}]
chr10 GH10I103744 103744462 103749621 1.04 [{'connected_gene': 'SH3PXD2A-AS1', 'score': 550.77}, {'connected_gene': 'SH3PXD2A', 'score': 11.38}, {'connected_gene': 'STN1', 'score': 10.5}, {'connected_gene': 'COL17A1', 'score': 9.35}, {'connected_gene': 'NT5C2', 'score': 4.72}, {'connected_gene': 'GSTO1', 'score': 4.63}, {'connected_gene': 'GSTO2', 'score': 4.55}]
chr10 GH10I103125 103125445 103126698 0.83 [{'connected_gene': 'RPS15AP29', 'score': 550.77}, {'connected_gene': 'AS3MT', 'score': 45.48}, {'connected_gene': 'RNU11-3P', 'score': 9.87}, {'connected_gene': 'MARCKSL1P1', 'score': 9.07}, {'connected_gene': 'PIR61082', 'score': 0.44}, {'connected_gene': 'NT5C2', 'score': 0.2}]
chr10 GH10I103121 103121464 103121653 0.85 [{'connected_gene': 'PIR32358', 'score': 550.77}, {'connected_gene': 'AS3MT', 'score': 43.85}, {'connected_gene': 'INA', 'score': 10.51}, {'connected_gene': 'RNU11-3P', 'score': 9.74}, {'connected_gene': 'NEURL1', 'score': 9.08}, {'connected_gene': 'GC10M103094', 'score': 0.34}, {'connected_gene': 'NT5C2', 'score': 0.19}]
chr10 GH10I103101 103101813 103102944 0.2 [{'connected_gene': 'GC10M103094', 'score': 550.77}, {'connected_gene': 'CNNM2', 'score': 10.46}, {'connected_gene': 'RNU11-3P', 'score': 10.32}, {'connected_gene': 'AS3MT', 'score': 5.88}, {'connected_gene': 'PIR32358', 'score': 0.34}, {'connected_gene': 'NT5C2', 'score': 0.16}]
chr10 GH10I103132 103132863 103133224 0.62 [{'connected_gene': 'PIR61082', 'score': 550.77}, {'connected_gene': 'PIR33793', 'score': 550.77}, {'connected_gene': 'BORCS7', 'score': 8.4}, {'connected_gene': 'NT5C2', 'score': 5.82}, {'connected_gene': 'MARCKSL1P1', 'score': 0.26}]

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