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
ENST00000310236 [[184097860, 184098254], [184098479, 184098583], [184098863, 184098896]] [[184098106, 184098254], [184098479, 184098583], [184098863, 184098896]]
ENST00000356534 [[184097860, 184098254], [184098479, 184098583], [184098867, 184098918], [184099022, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184099808], [184100176, 184100318], [184100421, 184100535]] [[184098106, 184098254], [184098479, 184098583], [184098867, 184098876]]
ENST00000204604 [[184097860, 184098254], [184098479, 184098583], [184099022, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184099808], [184100176, 184100318], [184100421, 184100562], [184100643, 184100726], [184100803, 184100951], [184101099, 184101206], [184101310, 184101430], [184102324, 184102481], [184102805, 184103026], [184103833, 184103947], [184104279, 184104543], [184104632, 184104726], [184104838, 184104895], [184105161, 184105265], [184105718, 184105821], [184106374, 184106529], [184106680, 184106783], [184107154, 184107617]] [[184098106, 184098254], [184098479, 184098583], [184099022, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184099808], [184100176, 184100318], [184100421, 184100562], [184100643, 184100726], [184100803, 184100951], [184101099, 184101206], [184101310, 184101430], [184102324, 184102481], [184102805, 184103026], [184103833, 184103947], [184104279, 184104543], [184104632, 184104726], [184104838, 184104895], [184105161, 184105265], [184105718, 184105821], [184106374, 184106529], [184106680, 184106783], [184107154, 184107210]]
ENST00000460627 [[184097860, 184098254], [184098479, 184098583], [184099022, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184101206], [184101310, 184101430], [184102324, 184102481], [184102805, 184103026], [184103833, 184104726], [184104838, 184104895], [184105161, 184105265], [184105718, 184105821], [184106374, 184106529], [184106680, 184106783], [184107154, 184107617]] None
ENST00000448472 [[184097860, 184098254], [184098479, 184098583], [184098863, 184098918], [184099022, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184099808], [184100176, 184100318], [184100421, 184100562], [184100672, 184100726], [184100803, 184100951], [184101099, 184101206], [184101310, 184101430], [184102324, 184102481], [184102805, 184103026], [184103833, 184103947], [184104279, 184104543], [184104632, 184104726], [184104838, 184104895], [184105161, 184105265], [184105718, 184105821], [184106374, 184106529], [184106680, 184106783], [184107154, 184107617]] [[184098106, 184098254], [184098479, 184098583], [184098863, 184098896]]
ENST00000420973 [[184097860, 184098254], [184098479, 184098583], [184099022, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184099808], [184100176, 184100318], [184100421, 184100562], [184100672, 184100726], [184100803, 184100951], [184101099, 184101206], [184101310, 184101430], [184102324, 184102481], [184102805, 184103026], [184103833, 184103947], [184104279, 184104543], [184104632, 184104726], [184104838, 184104895], [184105161, 184105265], [184105718, 184105821], [184106374, 184106529], [184106680, 184106783], [184107154, 184107617]] [[184098106, 184098254], [184098479, 184098583], [184099022, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184099808], [184100176, 184100318], [184100421, 184100562], [184100672, 184100726], [184100803, 184100820]]
ENST00000450923 [[184097994, 184098254], [184098479, 184098583], [184099022, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184099808], [184100176, 184100318], [184100421, 184100562], [184100643, 184100726], [184100803, 184100951], [184101099, 184101206], [184101310, 184101430], [184102324, 184102481], [184102805, 184103026], [184103833, 184103947], [184104279, 184104543], [184104632, 184104726], [184104838, 184104895], [184105161, 184105265], [184105718, 184105821], [184106374, 184106529], [184106680, 184106783], [184107157, 184107617]] [[184098106, 184098254], [184098479, 184098583], [184099022, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184099808], [184100176, 184100318], [184100421, 184100562], [184100643, 184100726], [184100803, 184100951], [184101099, 184101206], [184101310, 184101430], [184102324, 184102481], [184102805, 184103026], [184103833, 184103947], [184104279, 184104543], [184104632, 184104726], [184104838, 184104895], [184105161, 184105265], [184105718, 184105821], [184106374, 184106529], [184106680, 184106783], [184107157, 184107210]]
ENST00000348986 [[184098106, 184098254], [184098479, 184098583], [184099022, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184099808], [184100176, 184100318], [184100421, 184100562], [184100643, 184100726], [184100803, 184100951], [184101099, 184101206], [184102324, 184102481], [184102805, 184103026], [184103833, 184103947], [184104279, 184104543], [184104632, 184104726], [184104838, 184104895], [184105161, 184105265], [184105718, 184105821], [184106374, 184106529], [184106680, 184106783], [184107154, 184107617]] [[184098106, 184098254], [184098479, 184098583], [184099022, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184099808], [184100176, 184100318], [184100421, 184100562], [184100643, 184100726], [184100803, 184100951], [184101099, 184101206], [184102324, 184102481], [184102805, 184103026], [184103833, 184103947], [184104279, 184104543], [184104632, 184104726], [184104838, 184104895], [184105161, 184105265], [184105718, 184105821], [184106374, 184106529], [184106680, 184106783], [184107154, 184107210]]
ENST00000470150 [[184098108, 184098254], [184098479, 184098583], [184099022, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184099808], [184100176, 184100318], [184100421, 184100951], [184101099, 184101206], [184101310, 184101430], [184102324, 184102481], [184102805, 184103026], [184103833, 184103947], [184104279, 184104543], [184104632, 184104726], [184104838, 184104895], [184105718, 184105821], [184106374, 184106529], [184106680, 184106783], [184107154, 184108524]] None
ENST00000496527 [[184098135, 184098254], [184098479, 184098948]] None
ENST00000459711 [[184098239, 184098254], [184098479, 184098583], [184099022, 184099152], [184099283, 184099537]] None
ENST00000485883 [[184098410, 184098583], [184099022, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184099756]] None
ENST00000482805 [[184098779, 184098918], [184099022, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184099830]] None
ENST00000486066 [[184098806, 184098918], [184099022, 184099152], [184099283, 184099412], [184099503, 184099678]] None
ENST00000461684 [[184098806, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184099822]] None
ENST00000482014 [[184099193, 184099412], [184099503, 184099603], [184099720, 184099961]] None
ENST00000461120 [[184099932, 184100318], [184100421, 184100718]] None
ENST00000545352 [[184100047, 184100318], [184100421, 184100951], [184101099, 184101206], [184101310, 184101430], [184102324, 184102481], [184102805, 184103026], [184103833, 184103947], [184104632, 184104726], [184104838, 184104895], [184105161, 184105265], [184105718, 184105821], [184106374, 184106529], [184106680, 184106783], [184107154, 184107554]] [[184100848, 184100951], [184101099, 184101206], [184101310, 184101430], [184102324, 184102481], [184102805, 184103026], [184103833, 184103947], [184104632, 184104726], [184104838, 184104895], [184105161, 184105265], [184105718, 184105821], [184106374, 184106529], [184106680, 184106783], [184107154, 184107210]]
ENST00000464833 [[184102575, 184103026], [184103833, 184104543], [184104632, 184104726], [184104838, 184104895], [184105161, 184105189]] None
NM_001304474 [[184097860, 184098254], [184098479, 184098583], [184099022, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184099808], [184100176, 184100318], [184100421, 184100562], [184100672, 184100726], [184100803, 184100951], [184101099, 184101206], [184101310, 184101430], [184102324, 184102481], [184102805, 184103026], [184103833, 184103947], [184104279, 184104543], [184104632, 184104726], [184104838, 184104895], [184105161, 184105265], [184105718, 184105821], [184106374, 184106529], [184106680, 184106783], [184107154, 184107623]] [[184100848, 184100951], [184101099, 184101206], [184101310, 184101430], [184102324, 184102481], [184102805, 184103026], [184103833, 184103947], [184104279, 184104543], [184104632, 184104726], [184104838, 184104895], [184105161, 184105265], [184105718, 184105821], [184106374, 184106529], [184106680, 184106783], [184107154, 184107210]]
NM_001304472 [[184097860, 184098254], [184098479, 184098583], [184099022, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184099808], [184100176, 184100318], [184100421, 184100562], [184100643, 184100726], [184100803, 184100951], [184101099, 184101206], [184101310, 184101430], [184102324, 184102481], [184102805, 184103026], [184103833, 184103947], [184104279, 184104543], [184104632, 184104726], [184104838, 184104895], [184105161, 184105265], [184105718, 184105821], [184106374, 184106529], [184106680, 184106783], [184107157, 184107623]] [[184098106, 184098254], [184098479, 184098583], [184099022, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184099808], [184100176, 184100318], [184100421, 184100562], [184100643, 184100726], [184100803, 184100951], [184101099, 184101206], [184101310, 184101430], [184102324, 184102481], [184102805, 184103026], [184103833, 184103947], [184104279, 184104543], [184104632, 184104726], [184104838, 184104895], [184105161, 184105265], [184105718, 184105821], [184106374, 184106529], [184106680, 184106783], [184107157, 184107210]]
NM_003741 [[184097860, 184098254], [184098479, 184098583], [184099022, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184099808], [184100176, 184100318], [184100421, 184100562], [184100643, 184100726], [184100803, 184100951], [184101099, 184101206], [184101310, 184101430], [184102324, 184102481], [184102805, 184103026], [184103833, 184103947], [184104279, 184104543], [184104632, 184104726], [184104838, 184104895], [184105161, 184105265], [184105718, 184105821], [184106374, 184106529], [184106680, 184106783], [184107154, 184107623]] [[184098106, 184098254], [184098479, 184098583], [184099022, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184099808], [184100176, 184100318], [184100421, 184100562], [184100643, 184100726], [184100803, 184100951], [184101099, 184101206], [184101310, 184101430], [184102324, 184102481], [184102805, 184103026], [184103833, 184103947], [184104279, 184104543], [184104632, 184104726], [184104838, 184104895], [184105161, 184105265], [184105718, 184105821], [184106374, 184106529], [184106680, 184106783], [184107154, 184107210]]
NR_130747 [[184097860, 184098254], [184098479, 184098583], [184099022, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184099808], [184100176, 184100318], [184100421, 184100951], [184101099, 184101206], [184101310, 184101430], [184102324, 184102481], [184102805, 184103026], [184103833, 184103947], [184104279, 184104543], [184104632, 184104726], [184104838, 184104895], [184105718, 184105821], [184106374, 184106529], [184106680, 184106783], [184107154, 184107623]] None
NM_001304473 [[184097860, 184098254], [184098479, 184098583], [184098863, 184098918], [184099022, 184099152], [184099283, 184099412], [184099503, 184099603], [184099720, 184099808], [184100176, 184100318], [184100421, 184100562], [184100672, 184100726], [184100803, 184100951], [184101099, 184101206], [184101310, 184101430], [184102324, 184102481], [184102805, 184103026], [184103833, 184103947], [184104279, 184104543], [184104632, 184104726], [184104838, 184104895], [184105161, 184105265], [184105718, 184105821], [184106374, 184106529], [184106680, 184106783], [184107154, 184107623]] [[184100848, 184100951], [184101099, 184101206], [184101310, 184101430], [184102324, 184102481], [184102805, 184103026], [184103833, 184103947], [184104279, 184104543], [184104632, 184104726], [184104838, 184104895], [184105161, 184105265], [184105718, 184105821], [184106374, 184106529], [184106680, 184106783], [184107154, 184107210]]
Promoter
Chrom Start End Description
chr3 184097475 184097505 CAGE_peak_6_at_CHRD_5end
chr3 184097666 184097703 CAGE_peak_2_at_CHRD_5end
chr3 184097836 184097851 CAGE_peak_4_at_CHRD_5end
chr3 184097905 184097936 CAGE_peak_5_at_CHRD_5end
chr3 184098065 184098119 CAGE_peak_1_at_CHRD_5end
chr3 184098121 184098155 CAGE_peak_3_at_CHRD_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I184417 184417953 184418102 0.84 [{'connected_gene': 'CHRD', 'score': 11.52}, {'connected_gene': 'THPO', 'score': 11.52}, {'connected_gene': 'LINC01840', 'score': 11.11}, {'connected_gene': 'EPHB3', 'score': 10.88}, {'connected_gene': 'FAM131A', 'score': 10.8}, {'connected_gene': 'POLR2H', 'score': 10.78}, {'connected_gene': 'CLCN2', 'score': 10.78}, {'connected_gene': 'EIF4G1', 'score': 10.77}, {'connected_gene': 'PSMD2', 'score': 9.89}, {'connected_gene': 'LINC02054', 'score': 0.34}, {'connected_gene': 'LOC105374252', 'score': 0.19}]
chr3 GH03I184531 184531609 184531849 0.22 [{'connected_gene': 'CHRD', 'score': 12.08}, {'connected_gene': 'THPO', 'score': 12.08}, {'connected_gene': 'LINC01840', 'score': 11.45}, {'connected_gene': 'EPHB3', 'score': 11.43}, {'connected_gene': 'LINC02054', 'score': 11.12}, {'connected_gene': 'SNORD66', 'score': 10.56}, {'connected_gene': 'EIF4G1', 'score': 10.56}, {'connected_gene': 'FAM131A', 'score': 10.39}, {'connected_gene': 'HTR3E', 'score': 4.89}, {'connected_gene': 'HTR3D', 'score': 1.89}, {'connected_gene': 'LINC01839', 'score': 0.34}]
chr3 GH03I184459 184459132 184459899 0.58 [{'connected_gene': 'CHRD', 'score': 6.15}, {'connected_gene': 'LOC105374252', 'score': 0.29}, {'connected_gene': 'LINC02054', 'score': 0.21}]
chr3 GH03I184448 184448250 184449554 1 [{'connected_gene': 'CHRD', 'score': 4.31}, {'connected_gene': 'LOC105374252', 'score': 0.26}, {'connected_gene': 'LINC02054', 'score': 0.23}]
chr3 GH03I184464 184464899 184467633 0.58 [{'connected_gene': 'CHRD', 'score': 18.36}, {'connected_gene': 'LINC02054', 'score': 11.44}, {'connected_gene': 'THPO', 'score': 11.35}, {'connected_gene': 'LINC01840', 'score': 10.85}, {'connected_gene': 'MAGEF1', 'score': 10.37}, {'connected_gene': 'FAM131A', 'score': 10.25}, {'connected_gene': 'EIF4G1', 'score': 10.24}, {'connected_gene': 'EPHB3', 'score': 10.19}, {'connected_gene': 'LOC105374252', 'score': 0.34}]
chr3 GH03I184541 184541193 184541342 0.69 [{'connected_gene': 'THPO', 'score': 11.56}, {'connected_gene': 'CHRD', 'score': 11.56}, {'connected_gene': 'MAGEF1', 'score': 10.64}, {'connected_gene': 'FAM131A', 'score': 10.33}, {'connected_gene': 'EIF4G1', 'score': 10.33}, {'connected_gene': 'LINC01840', 'score': 0.37}, {'connected_gene': 'LINC01839', 'score': 0.29}]
chr3 GH03I184543 184543886 184544557 0.89 [{'connected_gene': 'THPO', 'score': 11.56}, {'connected_gene': 'CHRD', 'score': 11.56}, {'connected_gene': 'MAGEF1', 'score': 10.64}, {'connected_gene': 'FAM131A', 'score': 10.33}, {'connected_gene': 'EIF4G1', 'score': 10.33}, {'connected_gene': 'LINC01840', 'score': 0.39}, {'connected_gene': 'LINC01839', 'score': 0.28}]
chr3 GH03I184377 184377602 184380801 2.13 [{'connected_gene': 'THPO', 'score': 550.77}, {'connected_gene': 'CHRD', 'score': 550.77}, {'connected_gene': 'ABCF3', 'score': 6.46}, {'connected_gene': 'POLR2H', 'score': 0.37}]
chr3 GH03I184590 184590413 184595448 0.97 [{'connected_gene': 'MAGEF1', 'score': 12.61}, {'connected_gene': 'EPHB3', 'score': 12.0}, {'connected_gene': 'LINC01840', 'score': 11.98}, {'connected_gene': 'THPO', 'score': 10.64}, {'connected_gene': 'CHRD', 'score': 10.64}, {'connected_gene': 'FAM131A', 'score': 10.33}, {'connected_gene': 'EIF4G1', 'score': 10.32}]
chr3 GH03I184524 184524801 184526532 0.98 [{'connected_gene': 'MAGEF1', 'score': 22.68}, {'connected_gene': 'LINC02054', 'score': 12.07}, {'connected_gene': 'YEATS2', 'score': 11.97}, {'connected_gene': 'CHRD', 'score': 11.79}, {'connected_gene': 'THPO', 'score': 11.79}, {'connected_gene': 'LINC01840', 'score': 11.52}, {'connected_gene': 'POLR2H', 'score': 11.34}, {'connected_gene': 'CLCN2', 'score': 11.34}, {'connected_gene': 'EPHB3', 'score': 11.14}, {'connected_gene': 'FAM131A', 'score': 10.68}, {'connected_gene': 'EIF4G1', 'score': 10.67}, {'connected_gene': 'LINC01839', 'score': 8.06}]
chr3 GH03I184777 184777601 184778022 0.88 [{'connected_gene': 'EPHB3', 'score': 12.23}, {'connected_gene': 'LINC01840', 'score': 12.22}, {'connected_gene': 'MAGEF1', 'score': 11.57}, {'connected_gene': 'THPO', 'score': 10.91}, {'connected_gene': 'CHRD', 'score': 10.91}, {'connected_gene': 'LOC105374253', 'score': 0.77}, {'connected_gene': 'VPS8', 'score': 0.29}]
chr3 GH03I184773 184773319 184773948 0.78 [{'connected_gene': 'LOC105374253', 'score': 550.77}, {'connected_gene': 'LINC02069', 'score': 550.77}, {'connected_gene': 'LINC01840', 'score': 12.38}, {'connected_gene': 'EPHB3', 'score': 12.38}, {'connected_gene': 'MAGEF1', 'score': 11.29}, {'connected_gene': 'CHRD', 'score': 10.44}, {'connected_gene': 'THPO', 'score': 10.44}, {'connected_gene': 'VPS8', 'score': 0.28}]
chr3 GH03I184443 184443094 184444122 0.65 [{'connected_gene': 'LINC02054', 'score': 11.36}, {'connected_gene': 'FAM131A', 'score': 11.17}, {'connected_gene': 'EIF4G1', 'score': 11.15}, {'connected_gene': 'LINC01840', 'score': 10.34}, {'connected_gene': 'MAP3K13', 'score': 5.47}, {'connected_gene': 'CHRD', 'score': 4.31}, {'connected_gene': 'LOC105374252', 'score': 0.25}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.