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
ENST00000261413 [[71515235, 71516975], [71519509, 71519677], [71521883, 71522026], [71524092, 71524195], [71528269, 71528385], [71529945, 71530024], [71533840, 71533955], [71591357, 71591416], [71593458, 71593529], [71609907, 71609985], [71615975, 71616088]] [[71516735, 71516975], [71519509, 71519677], [71521883, 71522026], [71524092, 71524195], [71528269, 71528385], [71529945, 71530024], [71533840, 71533955], [71591357, 71591416], [71593458, 71593529], [71609907, 71609985], [71615975, 71616048]]
ENST00000457646 [[71515354, 71516975], [71519509, 71519677], [71521883, 71522026], [71524092, 71524195], [71528269, 71528385], [71529945, 71530024], [71533840, 71533955], [71591357, 71591416], [71593458, 71593529], [71609907, 71609985], [71616007, 71616082]] [[71516735, 71516975], [71519509, 71519677], [71521883, 71522026], [71524092, 71524195], [71528269, 71528385], [71529945, 71530024], [71533840, 71533955], [71591357, 71591416], [71593458, 71593512]]
ENST00000513900 [[71516663, 71516975], [71519509, 71519677], [71521883, 71522026], [71524092, 71524195], [71528269, 71528385], [71529945, 71530024], [71533840, 71533955], [71537473, 71537515], [71591357, 71591416], [71593458, 71593529], [71609907, 71609985], [71615975, 71616058]] [[71516735, 71516975], [71519509, 71519677], [71521883, 71522026], [71524092, 71524195], [71528269, 71528385], [71529945, 71530024], [71533840, 71533955], [71537473, 71537515], [71591357, 71591416], [71593458, 71593529], [71609907, 71609985], [71615975, 71616048]]
ENST00000508863 [[71516915, 71516975], [71519509, 71519677], [71521883, 71522026], [71524092, 71524195], [71528269, 71528385], [71529945, 71530024], [71533840, 71533955], [71591357, 71591416], [71593458, 71593529], [71616007, 71616049]] [[71516915, 71516975], [71519509, 71519677], [71521883, 71522026], [71524092, 71524195], [71528269, 71528385], [71529945, 71530024], [71533840, 71533955], [71591357, 71591416], [71593458, 71593512]]
ENST00000522042 [[71521919, 71522026], [71524092, 71524195], [71528269, 71528385], [71529945, 71530024], [71533840, 71533955], [71584641, 71584699]] None
ENST00000515404 [[71523589, 71524195], [71528269, 71528385], [71529945, 71530024], [71533840, 71533955], [71591357, 71591416], [71593458, 71593529], [71609907, 71609985], [71616007, 71616066]] [[71524024, 71524195], [71528269, 71528385], [71529945, 71530024], [71533840, 71533955], [71591357, 71591416], [71593458, 71593512]]
ENST00000519143 [[71533851, 71533955], [71591357, 71591416], [71593458, 71593529], [71603725, 71603789]] None
ENST00000522404 [[71533901, 71533955], [71537288, 71537515], [71591357, 71591416], [71593458, 71593529], [71609907, 71609985], [71615975, 71616036]] None
ENST00000515226 [[71515355, 71516975], [71519509, 71519677], [71521883, 71522026], [71522876, 71525380]] None
ENST00000519874 [[71515875, 71516154], [71516377, 71516600]] None
ENST00000522585 [[71518275, 71518354], [71519509, 71519557]] None
ENST00000522562 [[71519629, 71519677], [71521883, 71522026], [71522876, 71523102], [71524092, 71524195], [71528269, 71528385], [71529945, 71530024], [71533840, 71533957]] None
ENST00000520285 [[71590380, 71590615], [71591357, 71591416], [71593458, 71593529], [71609907, 71609985], [71615975, 71616018]] None
ENST00000522095 [[71591141, 71591416], [71593458, 71593529], [71609907, 71609985], [71615975, 71616055]] [[71591353, 71591416], [71593458, 71593529], [71609907, 71609985], [71615975, 71616048]]
ENST00000523654 [[71591375, 71591416], [71593458, 71593529], [71609907, 71609985], [71615826, 71616065]] None
ENST00000506957 [[71591375, 71591416], [71593458, 71593529], [71609907, 71609985], [71616060, 71616353], [71616443, 71616473]] None
NM_001286748 [[71515235, 71516975], [71519509, 71519677], [71521883, 71522026], [71524092, 71524195], [71528269, 71528385], [71529945, 71530024], [71533840, 71533955], [71537473, 71537515], [71591357, 71591416], [71593458, 71593529], [71609907, 71609985], [71615975, 71616084]] [[71516735, 71516975], [71519509, 71519677], [71521883, 71522026], [71524092, 71524195], [71528269, 71528385], [71529945, 71530024], [71533840, 71533955], [71537473, 71537515], [71591357, 71591416], [71593458, 71593529], [71609907, 71609985], [71615975, 71616048]]
NM_015084 [[71515235, 71516975], [71519509, 71519677], [71521883, 71522026], [71524092, 71524195], [71528269, 71528385], [71529945, 71530024], [71533840, 71533955], [71591357, 71591416], [71593458, 71593529], [71609907, 71609985], [71615975, 71616084]] [[71516735, 71516975], [71519509, 71519677], [71521883, 71522026], [71524092, 71524195], [71528269, 71528385], [71529945, 71530024], [71533840, 71533955], [71591357, 71591416], [71593458, 71593529], [71609907, 71609985], [71615975, 71616048]]
NM_001286751 [[71515235, 71516975], [71519509, 71519677], [71521883, 71522026], [71524092, 71524195], [71528269, 71528385], [71529945, 71530024], [71533840, 71533955], [71591357, 71591416], [71593458, 71593529], [71609907, 71609985], [71616007, 71616084]] [[71516735, 71516975], [71519509, 71519677], [71521883, 71522026], [71524092, 71524195], [71528269, 71528385], [71529945, 71530024], [71533840, 71533955], [71591357, 71591416], [71593458, 71593512]]
Promoter
Chrom Start End Description
chr5 71604117 71604163 CAGE_peak_3_at_MRPS27_5end
chr5 71604169 71604207 CAGE_peak_2_at_MRPS27_5end
chr5 71616043 71616079 CAGE_peak_1_at_MRPS27_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I072158 72158933 72161688 0.89 [{'connected_gene': 'PTCD2', 'score': 13.9}, {'connected_gene': 'MAP1B', 'score': 10.83}, {'connected_gene': 'RN7SL153P', 'score': 9.78}, {'connected_gene': 'MRPS27', 'score': 9.77}, {'connected_gene': 'MIR4803', 'score': 0.44}, {'connected_gene': 'GC05P072152', 'score': 0.44}, {'connected_gene': 'GC05M072150', 'score': 0.39}, {'connected_gene': 'GC05M072061', 'score': 0.25}]
chr5 GH05I072325 72325194 72326934 0.31 [{'connected_gene': 'PTCD2', 'score': 5.56}, {'connected_gene': 'MRPS27', 'score': 0.44}, {'connected_gene': 'GC05P072368', 'score': 0.26}]
chr5 GH05I071481 71481820 71484632 0.79 [{'connected_gene': 'MCCC2', 'score': 15.63}, {'connected_gene': 'BDP1', 'score': 13.62}, {'connected_gene': 'LOC653080', 'score': 11.75}, {'connected_gene': 'GUSBP9', 'score': 11.54}, {'connected_gene': 'SMN1', 'score': 11.03}, {'connected_gene': 'MRPS27', 'score': 10.19}, {'connected_gene': 'NAIP', 'score': 4.61}, {'connected_gene': 'LOC100419852', 'score': 0.44}, {'connected_gene': 'HMGN1P12', 'score': 0.23}]
chr5 GH05I072140 72140436 72142623 1.09 [{'connected_gene': 'MAP1B', 'score': 11.18}, {'connected_gene': 'MRPS27', 'score': 10.78}, {'connected_gene': 'PTCD2', 'score': 10.78}, {'connected_gene': 'RN7SL153P', 'score': 10.78}, {'connected_gene': 'GC05P072152', 'score': 0.39}, {'connected_gene': 'LOC105379028', 'score': 0.29}, {'connected_gene': 'GC05M072061', 'score': 0.2}]
chr5 GH05I072245 72245831 72249427 1.14 [{'connected_gene': 'MAP1B', 'score': 39.27}, {'connected_gene': 'MRPS27', 'score': 6.56}, {'connected_gene': 'PTCD2', 'score': 5.09}, {'connected_gene': 'GC05M072061', 'score': 0.28}, {'connected_gene': 'RN7SL153P', 'score': 0.2}]
chr5 GH05I072237 72237969 72239880 0.43 [{'connected_gene': 'MAP1B', 'score': 29.34}, {'connected_gene': 'MRPS27', 'score': 16.66}, {'connected_gene': 'RN7SL153P', 'score': 10.66}, {'connected_gene': 'PTCD2', 'score': 10.65}, {'connected_gene': 'GC05M072061', 'score': 0.31}]
chr5 GH05I072376 72376188 72382305 1.2 [{'connected_gene': 'MAP1B', 'score': 20.73}, {'connected_gene': 'ZNF366', 'score': 11.46}, {'connected_gene': 'MRPS27', 'score': 10.52}, {'connected_gene': 'PTCD2', 'score': 10.52}, {'connected_gene': 'RN7SL153P', 'score': 10.5}, {'connected_gene': 'GC05P072381', 'score': 0.77}, {'connected_gene': 'RPL10AP8', 'score': 0.44}]
chr5 GH05I072148 72148039 72150470 0.31 [{'connected_gene': 'MAP1B', 'score': 11.46}, {'connected_gene': 'RN7SL153P', 'score': 10.05}, {'connected_gene': 'MRPS27', 'score': 10.04}, {'connected_gene': 'PTCD2', 'score': 10.04}, {'connected_gene': 'GC05P072152', 'score': 0.77}, {'connected_gene': 'GC05M072150', 'score': 0.34}, {'connected_gene': 'LOC105379028', 'score': 0.26}, {'connected_gene': 'GC05M072061', 'score': 0.21}]
chr5 GH05I072142 72142744 72147983 0.56 [{'connected_gene': 'MAP1B', 'score': 11.63}, {'connected_gene': 'RN7SL153P', 'score': 10.79}, {'connected_gene': 'MRPS27', 'score': 10.78}, {'connected_gene': 'PTCD2', 'score': 10.78}, {'connected_gene': 'GC05P072152', 'score': 0.44}, {'connected_gene': 'LOC105379028', 'score': 0.28}, {'connected_gene': 'GC05M072061', 'score': 0.21}]
chr5 GH05I072138 72138526 72139840 1.08 [{'connected_gene': 'MAP1B', 'score': 11.18}, {'connected_gene': 'RN7SL153P', 'score': 10.78}, {'connected_gene': 'MRPS27', 'score': 10.78}, {'connected_gene': 'PTCD2', 'score': 10.78}, {'connected_gene': 'GC05P072152', 'score': 0.39}, {'connected_gene': 'LOC105379028', 'score': 0.29}, {'connected_gene': 'GC05M072061', 'score': 0.19}]
chr5 GH05I072244 72244509 72245400 0.84 [{'connected_gene': 'MAP1B', 'score': 11.46}, {'connected_gene': 'RN7SL153P', 'score': 10.75}, {'connected_gene': 'MRPS27', 'score': 10.73}, {'connected_gene': 'PTCD2', 'score': 10.73}, {'connected_gene': 'GC05M072061', 'score': 0.28}]
chr5 GH05I072233 72233561 72236283 1.13 [{'connected_gene': 'MAP1B', 'score': 10.74}, {'connected_gene': 'RN7SL153P', 'score': 10.65}, {'connected_gene': 'MRPS27', 'score': 10.63}, {'connected_gene': 'PTCD2', 'score': 10.63}, {'connected_gene': 'GC05M072061', 'score': 0.31}]
chr5 GH05I072242 72242434 72242540 0.2 [{'connected_gene': 'MAP1B', 'score': 10.38}, {'connected_gene': 'GC05M072061', 'score': 0.29}, {'connected_gene': 'RN7SL153P', 'score': 0.19}, {'connected_gene': 'MRPS27', 'score': 0.18}]
chr5 GH05I072253 72253000 72253200 0.38 [{'connected_gene': 'MAP1B', 'score': 10.04}, {'connected_gene': 'GC05M072061', 'score': 0.26}, {'connected_gene': 'RN7SL153P', 'score': 0.21}, {'connected_gene': 'MRPS27', 'score': 0.2}]
chr5 GH05I072232 72232228 72233200 0.94 [{'connected_gene': 'MAP1B', 'score': 39.97}, {'connected_gene': 'GC05M072061', 'score': 0.34}, {'connected_gene': 'RN7SL153P', 'score': 0.18}, {'connected_gene': 'MRPS27', 'score': 0.17}]
chr5 GH05I072846 72846630 72850697 2.29 [{'connected_gene': 'TNPO1', 'score': 572.46}, {'connected_gene': 'ENSG00000249085', 'score': 22.52}, {'connected_gene': 'FCHO2', 'score': 15.42}, {'connected_gene': 'UTP15', 'score': 14.07}, {'connected_gene': 'ANKRA2', 'score': 11.75}, {'connected_gene': 'RPL7P22', 'score': 10.74}, {'connected_gene': 'MRPS27', 'score': 10.19}, {'connected_gene': 'GC05P072869', 'score': 0.34}]
chr5 GH05I072319 72319008 72321729 2.06 [{'connected_gene': 'MRPS27', 'score': 558.87}, {'connected_gene': 'PTCD2', 'score': 550.77}, {'connected_gene': 'FCHO2', 'score': 41.54}, {'connected_gene': 'TNPO1', 'score': 30.46}, {'connected_gene': 'BDP1', 'score': 27.53}, {'connected_gene': 'RPL7P22', 'score': 12.5}]
chr5 GH05I072362 72362455 72364474 1.19 [{'connected_gene': 'MRPS27', 'score': 19.14}, {'connected_gene': 'PTCD2', 'score': 11.09}, {'connected_gene': 'RN7SL153P', 'score': 11.07}, {'connected_gene': 'ZNF366', 'score': 10.5}, {'connected_gene': 'RPL10AP8', 'score': 5.24}, {'connected_gene': 'GC05P072368', 'score': 0.77}]
chr5 GH05I072351 72351407 72351865 0.31 [{'connected_gene': 'MRPS27', 'score': 11.42}, {'connected_gene': 'PTCD2', 'score': 11.42}, {'connected_gene': 'RN7SL153P', 'score': 11.4}, {'connected_gene': 'ZNF366', 'score': 10.0}, {'connected_gene': 'GC05P072368', 'score': 0.37}]
chr5 GH05I072353 72353154 72353337 0.66 [{'connected_gene': 'MRPS27', 'score': 10.74}, {'connected_gene': 'PTCD2', 'score': 10.74}, {'connected_gene': 'RN7SL153P', 'score': 10.72}, {'connected_gene': 'ZNF366', 'score': 9.85}, {'connected_gene': 'GC05P072368', 'score': 0.39}]
chr5 GH05I072355 72355800 72356001 0.46 [{'connected_gene': 'MRPS27', 'score': 10.72}, {'connected_gene': 'PTCD2', 'score': 10.72}, {'connected_gene': 'RN7SL153P', 'score': 10.71}, {'connected_gene': 'ZNF366', 'score': 9.85}, {'connected_gene': 'GC05P072368', 'score': 0.39}]
chr5 GH05I072508 72508830 72514257 1.04 [{'connected_gene': 'MRPS27', 'score': 9.62}, {'connected_gene': 'PTCD2', 'score': 9.62}, {'connected_gene': 'RN7SL153P', 'score': 9.61}, {'connected_gene': 'FCHO2', 'score': 4.44}, {'connected_gene': 'ZNF366', 'score': 2.08}, {'connected_gene': 'LOC102503427', 'score': 0.25}]
chr5 GH05I072305 72305201 72309651 1.78 [{'connected_gene': 'MRPS27', 'score': 8.0}, {'connected_gene': 'PTCD2', 'score': 5.68}, {'connected_gene': 'RN7SL153P', 'score': 0.44}, {'connected_gene': 'GC05M072061', 'score': 0.15}]
chr5 GH05I072337 72337194 72337343 0.2 [{'connected_gene': 'MRPS27', 'score': 0.37}, {'connected_gene': 'PTCD2', 'score': 0.37}, {'connected_gene': 'GC05P072368', 'score': 0.29}]
chr5 GH05I072346 72346329 72349424 0.94 [{'connected_gene': 'MRPS27', 'score': 8.37}, {'connected_gene': 'GC05P072368', 'score': 0.37}, {'connected_gene': 'PTCD2', 'score': 0.31}]
chr5 GH05I072323 72323542 72324986 0.54 [{'connected_gene': 'MRPS27', 'score': 0.77}, {'connected_gene': 'PTCD2', 'score': 0.77}, {'connected_gene': 'GC05P072368', 'score': 0.26}]
chr5 GH05I072280 72280892 72283643 1.19 [{'connected_gene': 'MRPS27', 'score': 15.71}, {'connected_gene': 'MAP1B', 'score': 11.45}, {'connected_gene': 'RN7SL153P', 'score': 11.27}, {'connected_gene': 'PTCD2', 'score': 11.25}, {'connected_gene': 'GC05M072061', 'score': 0.19}]
chr5 GH05I072301 72301525 72303441 0.72 [{'connected_gene': 'MRPS27', 'score': 7.84}, {'connected_gene': 'RN7SL153P', 'score': 0.39}, {'connected_gene': 'GC05M072061', 'score': 0.16}]
chr5 GH05I072386 72386603 72389470 1.04 [{'connected_gene': 'ZNF366', 'score': 11.4}, {'connected_gene': 'MRPS27', 'score': 10.1}, {'connected_gene': 'PTCD2', 'score': 10.1}, {'connected_gene': 'RN7SL153P', 'score': 10.09}, {'connected_gene': 'MAP1B', 'score': 6.59}, {'connected_gene': 'GC05P072381', 'score': 0.44}, {'connected_gene': 'YBX1P5', 'score': 0.31}]
chr5 GH05I072507 72507666 72508543 1.7 [{'connected_gene': 'ZNF366', 'score': 553.9}, {'connected_gene': 'MRPS27', 'score': 9.62}, {'connected_gene': 'PTCD2', 'score': 9.62}, {'connected_gene': 'RN7SL153P', 'score': 9.62}, {'connected_gene': 'FCHO2', 'score': 4.45}, {'connected_gene': 'LOC102503427', 'score': 0.25}]
chr5 GH05I072485 72485084 72486801 0.86 [{'connected_gene': 'ZNF366', 'score': 12.45}, {'connected_gene': 'MRPS27', 'score': 10.11}, {'connected_gene': 'PTCD2', 'score': 10.11}, {'connected_gene': 'RN7SL153P', 'score': 10.11}, {'connected_gene': 'FCHO2', 'score': 4.4}, {'connected_gene': 'GC05P072450', 'score': 0.28}]
chr5 GH05I072426 72426684 72428914 0.69 [{'connected_gene': 'ZNF366', 'score': 10.4}, {'connected_gene': 'MRPS27', 'score': 9.54}, {'connected_gene': 'PTCD2', 'score': 9.54}, {'connected_gene': 'RN7SL153P', 'score': 9.53}, {'connected_gene': 'YBX1P5', 'score': 0.39}, {'connected_gene': 'GC05P072439', 'score': 0.39}]
chr5 GH05I072125 72125636 72126724 0.31 [{'connected_gene': 'RN7SL153P', 'score': 10.57}, {'connected_gene': 'MRPS27', 'score': 10.57}, {'connected_gene': 'PTCD2', 'score': 10.57}, {'connected_gene': 'MAP1B', 'score': 0.37}, {'connected_gene': 'LOC105379028', 'score': 0.37}, {'connected_gene': 'GC05P072152', 'score': 0.31}, {'connected_gene': 'GC05M072061', 'score': 0.18}]
chr5 GH05I072203 72203257 72204332 0.38 [{'connected_gene': 'RN7SL153P', 'score': 10.71}, {'connected_gene': 'MRPS27', 'score': 10.7}, {'connected_gene': 'PTCD2', 'score': 10.7}, {'connected_gene': 'MAP1B', 'score': 10.42}, {'connected_gene': 'GC05M072061', 'score': 0.44}, {'connected_gene': 'GC05M072150', 'score': 0.29}]
chr5 GH05I072241 72241734 72241883 0.8 [{'connected_gene': 'RN7SL153P', 'score': 10.57}, {'connected_gene': 'MRPS27', 'score': 10.56}, {'connected_gene': 'PTCD2', 'score': 10.56}, {'connected_gene': 'MAP1B', 'score': 10.38}, {'connected_gene': 'GC05M072061', 'score': 0.29}]
chr5 GH05I072304 72304490 72305157 0.49 [{'connected_gene': 'RN7SL153P', 'score': 0.44}, {'connected_gene': 'MRPS27', 'score': 0.37}, {'connected_gene': 'GC05M072061', 'score': 0.16}]
chr5 GH05I072169 72169071 72172475 0.46 [{'connected_gene': 'MIR4803', 'score': 550.77}, {'connected_gene': 'MAP1B', 'score': 15.27}, {'connected_gene': 'MRPS27', 'score': 9.68}, {'connected_gene': 'PTCD2', 'score': 9.68}, {'connected_gene': 'RN7SL153P', 'score': 9.68}, {'connected_gene': 'GC05M072150', 'score': 0.77}, {'connected_gene': 'GC05M072061', 'score': 0.28}]
chr5 GH05I072209 72209122 72212415 1.86 [{'connected_gene': 'GC05M072061', 'score': 550.77}, {'connected_gene': 'MAP1B', 'score': 44.35}, {'connected_gene': 'PTCD2', 'score': 4.93}, {'connected_gene': 'MRPS27', 'score': 4.9}, {'connected_gene': 'RN7SL153P', 'score': 0.15}]
chr5 GH05I072815 72815021 72819690 2.05 [{'connected_gene': 'ENSG00000249085', 'score': 564.01}, {'connected_gene': 'GC05M072783', 'score': 550.77}, {'connected_gene': 'TNPO1', 'score': 550.77}, {'connected_gene': 'UTP15', 'score': 14.06}, {'connected_gene': 'FCHO2', 'score': 13.89}, {'connected_gene': 'ANKRA2', 'score': 11.75}, {'connected_gene': 'RPL7P22', 'score': 10.77}, {'connected_gene': 'MRPS27', 'score': 10.2}, {'connected_gene': 'ENSG00000272081', 'score': 6.17}, {'connected_gene': 'GC05P072869', 'score': 0.23}]
chr5 GH05I072349 72349494 72349723 0.22 [{'connected_gene': 'GC05P072368', 'score': 0.37}, {'connected_gene': 'MRPS27', 'score': 0.31}, {'connected_gene': 'PTCD2', 'score': 0.31}]
chr5 GH05I072366 72366201 72367000 1.1 [{'connected_gene': 'GC05P072368', 'score': 550.77}, {'connected_gene': 'ZNF366', 'score': 11.9}, {'connected_gene': 'MRPS27', 'score': 0.25}, {'connected_gene': 'PTCD2', 'score': 0.25}]

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