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
ENST00000259748 [[41737913, 41739271], [41739553, 41739702], [41740535, 41740697], [41743156, 41743343], [41744659, 41744748], [41745770, 41745919]] [[41738356, 41739271], [41739553, 41739702], [41740535, 41740697], [41743156, 41743343], [41744659, 41744725]]
ENST00000373018 [[41737913, 41739271], [41739553, 41739702], [41740535, 41740697], [41743156, 41743343], [41744659, 41744748], [41745770, 41745914], [41747553, 41747638]] [[41738356, 41739271], [41739553, 41739702], [41740535, 41740697], [41743156, 41743343], [41744659, 41744725]]
ENST00000426290 [[41740581, 41740697], [41743156, 41743343], [41744659, 41744748], [41748122, 41748204]] [[41740581, 41740697], [41743156, 41743343], [41744659, 41744748], [41748122, 41748171]]
ENST00000422888 [[41743300, 41743343], [41744659, 41744748], [41745770, 41745914], [41754230, 41754280]] [[41743300, 41743343], [41744659, 41744725]]
ENST00000466420 [[41744156, 41744360], [41744659, 41744748], [41745222, 41745565], [41745770, 41745914]] None
NM_006653 [[41737913, 41739271], [41739553, 41739702], [41740535, 41740697], [41743156, 41743343], [41744659, 41744748], [41745770, 41745914], [41747553, 41747643]] [[41738356, 41739271], [41739553, 41739702], [41740535, 41740697], [41743156, 41743343], [41744659, 41744725]]
Promoter
Chrom Start End Description
chr6 41747595 41747652 CAGE_peak_1_at_FRS3_5end
chr6 41747661 41747677 CAGE_peak_2_at_FRS3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I041919 41919476 41923542 2.32 [{'connected_gene': 'MED20', 'score': 572.24}, {'connected_gene': 'BYSL', 'score': 550.39}, {'connected_gene': 'FRS3', 'score': 10.33}, {'connected_gene': 'ENSG00000124593', 'score': 8.1}, {'connected_gene': 'LOC105375060', 'score': 0.18}]
chr6 GH06I041934 41934232 41943178 2.59 [{'connected_gene': 'CCND3', 'score': 557.58}, {'connected_gene': 'ENSG00000124593', 'score': 69.78}, {'connected_gene': 'USP49', 'score': 22.81}, {'connected_gene': 'FRS3', 'score': 21.26}, {'connected_gene': 'MED20', 'score': 18.9}, {'connected_gene': 'UBR2', 'score': 14.16}, {'connected_gene': 'BICRAL', 'score': 12.47}, {'connected_gene': 'ENSG00000207371', 'score': 12.07}, {'connected_gene': 'BYSL', 'score': 12.03}, {'connected_gene': 'RNU6-761P', 'score': 11.75}, {'connected_gene': 'RPL7L1', 'score': 11.12}, {'connected_gene': 'PRICKLE4', 'score': 10.84}, {'connected_gene': 'TOMM6', 'score': 10.71}, {'connected_gene': 'ENSG00000206977', 'score': 10.48}, {'connected_gene': 'TFEB', 'score': 2.82}, {'connected_gene': 'TAF8', 'score': 1.89}, {'connected_gene': 'LOC105375060', 'score': 0.22}]
chr6 GH06I042040 42040854 42051803 2.8 [{'connected_gene': 'CCND3', 'score': 561.62}, {'connected_gene': 'TAF8', 'score': 559.04}, {'connected_gene': 'PIR49026', 'score': 550.77}, {'connected_gene': 'ENSG00000124593', 'score': 18.84}, {'connected_gene': 'RNU6-761P', 'score': 11.51}, {'connected_gene': 'ENSG00000207371', 'score': 11.44}, {'connected_gene': 'MED20', 'score': 11.44}, {'connected_gene': 'BYSL', 'score': 11.43}, {'connected_gene': 'FRS3', 'score': 11.27}, {'connected_gene': 'PRICKLE4', 'score': 11.26}, {'connected_gene': 'USP49', 'score': 11.2}, {'connected_gene': 'TOMM6', 'score': 10.98}, {'connected_gene': 'ENSG00000206977', 'score': 10.3}, {'connected_gene': 'GNMT', 'score': 5.56}, {'connected_gene': 'TRERF1', 'score': 2.67}, {'connected_gene': 'TFEB', 'score': 2.15}]
chr6 GH06I042097 42097262 42108458 1.44 [{'connected_gene': 'RRP36', 'score': 19.57}, {'connected_gene': 'C6orf132', 'score': 18.13}, {'connected_gene': 'UBR2', 'score': 13.38}, {'connected_gene': 'BICRAL', 'score': 12.98}, {'connected_gene': 'GUCA1A', 'score': 11.63}, {'connected_gene': 'ENSG00000214732', 'score': 11.63}, {'connected_gene': 'GUCA1B', 'score': 11.11}, {'connected_gene': 'ENSG00000261068', 'score': 10.35}, {'connected_gene': 'FRS3', 'score': 10.09}, {'connected_gene': 'PRICKLE4', 'score': 10.08}, {'connected_gene': 'ENSG00000124593', 'score': 10.08}, {'connected_gene': 'TAF8', 'score': 9.96}, {'connected_gene': 'MED20', 'score': 9.84}, {'connected_gene': 'ENSG00000207371', 'score': 9.84}, {'connected_gene': 'BYSL', 'score': 9.83}, {'connected_gene': 'RNU6-761P', 'score': 9.7}, {'connected_gene': 'ENSG00000206977', 'score': 9.5}, {'connected_gene': 'GC06P042354', 'score': 0.29}]
chr6 GH06I041776 41776023 41776172 0.92 [{'connected_gene': 'PGC', 'score': 11.81}, {'connected_gene': 'TFEB', 'score': 11.75}, {'connected_gene': 'ENSG00000231102', 'score': 11.69}, {'connected_gene': 'CCND3', 'score': 10.89}, {'connected_gene': 'TAF8', 'score': 10.89}, {'connected_gene': 'BYSL', 'score': 9.91}, {'connected_gene': 'MED20', 'score': 9.91}, {'connected_gene': 'ENSG00000207371', 'score': 9.91}, {'connected_gene': 'RNU6-761P', 'score': 9.83}, {'connected_gene': 'ENSG00000124593', 'score': 0.77}, {'connected_gene': 'PIR31477', 'score': 0.77}, {'connected_gene': 'FRS3', 'score': 0.39}]
chr6 GH06I041070 41070635 41076532 2.32 [{'connected_gene': 'NFYA', 'score': 550.77}, {'connected_gene': 'OARD1', 'score': 550.34}, {'connected_gene': 'ADCY10P1', 'score': 37.47}, {'connected_gene': 'TAF8', 'score': 19.81}, {'connected_gene': 'FRS3', 'score': 11.21}, {'connected_gene': 'TSPO2', 'score': 10.65}, {'connected_gene': 'UNC5CL', 'score': 10.65}, {'connected_gene': 'APOBEC2', 'score': 7.7}]
chr6 GH06I041965 41965119 41968167 1.36 [{'connected_gene': 'USP49', 'score': 15.75}, {'connected_gene': 'MED20', 'score': 14.84}, {'connected_gene': 'RNU6-761P', 'score': 10.98}, {'connected_gene': 'ENSG00000207371', 'score': 10.33}, {'connected_gene': 'BYSL', 'score': 10.3}, {'connected_gene': 'ENSG00000206977', 'score': 9.76}, {'connected_gene': 'ENSG00000124593', 'score': 4.92}, {'connected_gene': 'FRS3', 'score': 4.47}, {'connected_gene': 'LOC105375060', 'score': 0.29}, {'connected_gene': 'CCND3', 'score': 0.18}]
chr6 GH06I042034 42034449 42035832 0.38 [{'connected_gene': 'USP49', 'score': 11.47}, {'connected_gene': 'PRICKLE4', 'score': 11.36}, {'connected_gene': 'ENSG00000124593', 'score': 11.36}, {'connected_gene': 'FRS3', 'score': 11.36}, {'connected_gene': 'TOMM6', 'score': 10.75}, {'connected_gene': 'MED20', 'score': 10.41}, {'connected_gene': 'BYSL', 'score': 10.41}, {'connected_gene': 'ENSG00000207371', 'score': 10.41}, {'connected_gene': 'ENSG00000206977', 'score': 10.28}, {'connected_gene': 'GUCA1A', 'score': 9.91}, {'connected_gene': 'ENSG00000214732', 'score': 9.91}, {'connected_gene': 'ENSG00000223946', 'score': 0.44}, {'connected_gene': 'PIR49026', 'score': 0.44}, {'connected_gene': 'CCND3', 'score': 0.37}]
chr6 GH06I042031 42031996 42033311 0.38 [{'connected_gene': 'USP49', 'score': 11.47}, {'connected_gene': 'PRICKLE4', 'score': 11.36}, {'connected_gene': 'ENSG00000124593', 'score': 11.36}, {'connected_gene': 'FRS3', 'score': 11.36}, {'connected_gene': 'TOMM6', 'score': 10.75}, {'connected_gene': 'MED20', 'score': 10.41}, {'connected_gene': 'ENSG00000207371', 'score': 10.41}, {'connected_gene': 'BYSL', 'score': 10.4}, {'connected_gene': 'ENSG00000206977', 'score': 10.28}, {'connected_gene': 'GUCA1A', 'score': 9.91}, {'connected_gene': 'ENSG00000214732', 'score': 9.91}, {'connected_gene': 'ENSG00000223946', 'score': 0.77}, {'connected_gene': 'PIR49026', 'score': 0.39}, {'connected_gene': 'CCND3', 'score': 0.37}]
chr6 GH06I042036 42036378 42037133 0.31 [{'connected_gene': 'USP49', 'score': 11.46}, {'connected_gene': 'PRICKLE4', 'score': 11.36}, {'connected_gene': 'ENSG00000124593', 'score': 11.36}, {'connected_gene': 'FRS3', 'score': 11.36}, {'connected_gene': 'TOMM6', 'score': 10.75}, {'connected_gene': 'BYSL', 'score': 10.41}, {'connected_gene': 'ENSG00000207371', 'score': 10.41}, {'connected_gene': 'MED20', 'score': 10.41}, {'connected_gene': 'ENSG00000206977', 'score': 10.28}, {'connected_gene': 'GUCA1A', 'score': 9.91}, {'connected_gene': 'ENSG00000214732', 'score': 9.91}, {'connected_gene': 'ENSG00000223946', 'score': 0.44}, {'connected_gene': 'PIR49026', 'score': 0.44}, {'connected_gene': 'CCND3', 'score': 0.39}]
chr6 GH06I041448 41448449 41452667 1.35 [{'connected_gene': 'USP49', 'score': 11.31}, {'connected_gene': 'FOXP4-AS1', 'score': 10.91}, {'connected_gene': 'FOXP4', 'score': 10.91}, {'connected_gene': 'FRS3', 'score': 9.88}, {'connected_gene': 'GC06M041477', 'score': 0.31}, {'connected_gene': 'ENSG00000280371', 'score': 0.26}]
chr6 GH06I042563 42563303 42566743 2.13 [{'connected_gene': 'UBR2', 'score': 550.77}, {'connected_gene': 'PRPH2', 'score': 57.3}, {'connected_gene': 'ENSG00000271970', 'score': 15.61}, {'connected_gene': 'POLR1C', 'score': 14.63}, {'connected_gene': 'FRS3', 'score': 11.21}, {'connected_gene': 'RNU6-890P', 'score': 10.6}, {'connected_gene': 'PTK7', 'score': 10.29}, {'connected_gene': 'RPS2P29', 'score': 10.13}, {'connected_gene': 'ENSG00000271754', 'score': 9.77}, {'connected_gene': 'GC06P042664', 'score': 0.15}]
chr6 GH06I041576 41576601 41579688 1.69 [{'connected_gene': 'FOXP4', 'score': 23.11}, {'connected_gene': 'UBR2', 'score': 15.3}, {'connected_gene': 'FOXP4-AS1', 'score': 11.51}, {'connected_gene': 'MED20', 'score': 9.88}, {'connected_gene': 'FRS3', 'score': 1.25}, {'connected_gene': 'GC06M041544', 'score': 0.39}, {'connected_gene': 'GC06P041980', 'score': 0.31}, {'connected_gene': 'GC06P041785', 'score': 0.31}]
chr6 GH06I041760 41760088 41760482 0.43 [{'connected_gene': 'FRS3', 'score': 15.42}, {'connected_gene': 'TFEB', 'score': 12.25}, {'connected_gene': 'ENSG00000231102', 'score': 12.19}, {'connected_gene': 'ENSG00000269387', 'score': 0.77}, {'connected_gene': 'PGC', 'score': 0.44}]
chr6 GH06I041373 41373990 41374035 0.49 [{'connected_gene': 'FRS3', 'score': 1.52}, {'connected_gene': 'LOC100505711', 'score': 0.44}, {'connected_gene': 'GC06P041560', 'score': 0.29}]
chr6 GH06I041784 41784103 41788801 2.11 [{'connected_gene': 'FRS3', 'score': 572.98}, {'connected_gene': 'TOMM6', 'score': 550.77}, {'connected_gene': 'ENSG00000124593', 'score': 64.98}, {'connected_gene': 'MED20', 'score': 32.97}, {'connected_gene': 'USP49', 'score': 12.0}, {'connected_gene': 'BICRAL', 'score': 10.98}, {'connected_gene': 'BYSL', 'score': 10.88}, {'connected_gene': 'ENSG00000207371', 'score': 10.87}, {'connected_gene': 'PGC', 'score': 5.7}, {'connected_gene': 'PRICKLE4', 'score': 0.44}]
chr6 GH06I041441 41441046 41444534 1.48 [{'connected_gene': 'FRS3', 'score': 1.83}, {'connected_gene': 'GC06M041477', 'score': 0.28}, {'connected_gene': 'ENSG00000280371', 'score': 0.28}]
chr6 GH06I041439 41439694 41440138 0.68 [{'connected_gene': 'FRS3', 'score': 4.58}, {'connected_gene': 'ENSG00000280371', 'score': 0.29}, {'connected_gene': 'GC06M041477', 'score': 0.28}]
chr6 GH06I041992 41992755 41993597 0.43 [{'connected_gene': 'RNU6-761P', 'score': 11.54}, {'connected_gene': 'FRS3', 'score': 10.46}, {'connected_gene': 'PRICKLE4', 'score': 10.46}, {'connected_gene': 'ENSG00000124593', 'score': 10.46}, {'connected_gene': 'ENSG00000206977', 'score': 10.33}, {'connected_gene': 'MED20', 'score': 10.08}, {'connected_gene': 'ENSG00000207371', 'score': 10.07}, {'connected_gene': 'BYSL', 'score': 10.06}, {'connected_gene': 'LOC105375060', 'score': 0.77}, {'connected_gene': 'CCND3', 'score': 0.22}]
chr6 GH06I042020 42020994 42029799 1.74 [{'connected_gene': 'ENSG00000124593', 'score': 24.26}, {'connected_gene': 'MED20', 'score': 15.8}, {'connected_gene': 'UBR2', 'score': 14.16}, {'connected_gene': 'CCND3', 'score': 12.62}, {'connected_gene': 'TAF8', 'score': 12.59}, {'connected_gene': 'BICRAL', 'score': 12.47}, {'connected_gene': 'USP49', 'score': 11.47}, {'connected_gene': 'PRICKLE4', 'score': 11.36}, {'connected_gene': 'FRS3', 'score': 11.36}, {'connected_gene': 'ENSG00000207371', 'score': 11.05}, {'connected_gene': 'BYSL', 'score': 11.03}, {'connected_gene': 'TOMM6', 'score': 10.75}, {'connected_gene': 'RRP36', 'score': 10.74}, {'connected_gene': 'ENSG00000206977', 'score': 10.28}, {'connected_gene': 'GUCA1A', 'score': 10.11}, {'connected_gene': 'ENSG00000214732', 'score': 10.1}, {'connected_gene': 'RPL24P4', 'score': 9.77}, {'connected_gene': 'TFEB', 'score': 1.55}, {'connected_gene': 'ENSG00000223946', 'score': 0.77}, {'connected_gene': 'GC06P042246', 'score': 0.77}]
chr6 GH06I041693 41693935 41694154 0.44 [{'connected_gene': 'ENSG00000231102', 'score': 11.45}, {'connected_gene': 'TFEB', 'score': 11.4}, {'connected_gene': 'PGC', 'score': 11.34}, {'connected_gene': 'MDFI', 'score': 11.13}, {'connected_gene': 'FRS3', 'score': 2.02}, {'connected_gene': 'GC06M041708', 'score': 0.39}, {'connected_gene': 'GC06M041707', 'score': 0.39}, {'connected_gene': 'GC06P042391', 'score': 0.31}]
chr6 GH06I041779 41779141 41782037 2.08 [{'connected_gene': 'ENSG00000124593', 'score': 615.95}, {'connected_gene': 'PRICKLE4', 'score': 550.77}, {'connected_gene': 'FRS3', 'score': 550.44}, {'connected_gene': 'UBR2', 'score': 24.53}, {'connected_gene': 'TAF8', 'score': 13.2}, {'connected_gene': 'MED20', 'score': 13.17}, {'connected_gene': 'BICRAL', 'score': 12.18}]
chr6 GH06I042094 42094103 42094252 0.79 [{'connected_gene': 'ENSG00000261068', 'score': 550.77}, {'connected_gene': 'GUCA1A', 'score': 11.28}, {'connected_gene': 'ENSG00000214732', 'score': 11.28}, {'connected_gene': 'C6orf132', 'score': 11.24}, {'connected_gene': 'GUCA1B', 'score': 11.18}, {'connected_gene': 'FRS3', 'score': 9.92}, {'connected_gene': 'PRICKLE4', 'score': 9.92}, {'connected_gene': 'ENSG00000124593', 'score': 9.92}, {'connected_gene': 'ENSG00000206977', 'score': 9.87}, {'connected_gene': 'TAF8', 'score': 0.26}]
chr6 GH06I042095 42095661 42096798 0.72 [{'connected_gene': 'ENSG00000261068', 'score': 550.77}, {'connected_gene': 'GUCA1A', 'score': 11.3}, {'connected_gene': 'ENSG00000214732', 'score': 11.3}, {'connected_gene': 'C6orf132', 'score': 11.12}, {'connected_gene': 'GUCA1B', 'score': 10.83}, {'connected_gene': 'FRS3', 'score': 9.92}, {'connected_gene': 'PRICKLE4', 'score': 9.92}, {'connected_gene': 'ENSG00000124593', 'score': 9.92}, {'connected_gene': 'ENSG00000206977', 'score': 9.47}, {'connected_gene': 'GC06P042354', 'score': 0.28}]
chr6 GH06I042029 42029854 42031849 1.34 [{'connected_gene': 'ENSG00000223946', 'score': 550.77}, {'connected_gene': 'ENSG00000124593', 'score': 25.23}, {'connected_gene': 'USP49', 'score': 11.47}, {'connected_gene': 'FRS3', 'score': 11.36}, {'connected_gene': 'PRICKLE4', 'score': 11.36}, {'connected_gene': 'TOMM6', 'score': 10.75}, {'connected_gene': 'MED20', 'score': 10.42}, {'connected_gene': 'ENSG00000207371', 'score': 10.41}, {'connected_gene': 'BYSL', 'score': 10.4}, {'connected_gene': 'ENSG00000206977', 'score': 10.28}, {'connected_gene': 'GUCA1A', 'score': 9.91}, {'connected_gene': 'ENSG00000214732', 'score': 9.91}, {'connected_gene': 'PIR49026', 'score': 0.39}, {'connected_gene': 'CCND3', 'score': 0.37}]
chr6 GH06I042744 42744120 42748958 2.12 [{'connected_gene': 'PIR49302', 'score': 550.77}, {'connected_gene': 'PIR40096', 'score': 550.77}, {'connected_gene': 'BICRAL', 'score': 550.77}, {'connected_gene': 'TBCC', 'score': 550.77}, {'connected_gene': 'PIR52070', 'score': 550.77}, {'connected_gene': 'POLH', 'score': 22.64}, {'connected_gene': 'XPO5', 'score': 17.71}, {'connected_gene': 'ZNF318', 'score': 12.99}, {'connected_gene': 'RRP36', 'score': 12.75}, {'connected_gene': 'FRS3', 'score': 12.21}, {'connected_gene': 'POLR1C', 'score': 11.75}, {'connected_gene': 'RPL7L1', 'score': 11.26}, {'connected_gene': 'RNU6-890P', 'score': 10.9}, {'connected_gene': 'RPL24P4', 'score': 10.66}, {'connected_gene': 'GTPBP2', 'score': 10.58}, {'connected_gene': 'MED20', 'score': 10.48}, {'connected_gene': 'BYSL', 'score': 9.85}, {'connected_gene': 'RPS2P29', 'score': 9.69}, {'connected_gene': 'PEX6', 'score': 4.7}]
chr6 GH06I042038 42038074 42040200 1.24 [{'connected_gene': 'ENSG00000124593', 'score': 21.68}, {'connected_gene': 'RNU6-761P', 'score': 11.54}, {'connected_gene': 'MED20', 'score': 11.44}, {'connected_gene': 'ENSG00000207371', 'score': 11.44}, {'connected_gene': 'BYSL', 'score': 11.43}, {'connected_gene': 'PRICKLE4', 'score': 11.27}, {'connected_gene': 'FRS3', 'score': 11.27}, {'connected_gene': 'USP49', 'score': 11.25}, {'connected_gene': 'TOMM6', 'score': 10.98}, {'connected_gene': 'ENSG00000206977', 'score': 10.34}, {'connected_gene': 'ENSG00000223946', 'score': 0.44}, {'connected_gene': 'PIR49026', 'score': 0.44}, {'connected_gene': 'CCND3', 'score': 0.39}]

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