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
ENST00000265537 [[45429997, 45430172], [45433074, 45433140], [45435924, 45436179], [45441736, 45441865], [45458973, 45459065], [45461160, 45461221], [45488382, 45488472], [45500234, 45500378], [45515734, 45515842], [45517959, 45518119], [45527183, 45527288], [45530188, 45530304], [45533008, 45533292], [45537766, 45537865], [45541933, 45542071], [45554626, 45554727], [45557585, 45557768], [45559394, 45559564], [45561710, 45561788], [45565488, 45565600], [45583320, 45583448], [45588842, 45590329]] [[45435945, 45436179], [45441736, 45441865], [45458973, 45459065], [45461160, 45461221], [45488382, 45488472], [45500234, 45500378], [45515734, 45515842], [45517959, 45518119], [45527183, 45527288], [45530188, 45530304], [45533008, 45533292], [45537766, 45537865], [45541933, 45542071], [45554626, 45554727], [45557585, 45557768], [45559394, 45559564], [45561710, 45561788], [45565488, 45565600], [45583320, 45583448], [45588842, 45589022]]
ENST00000415258 [[45430052, 45430172], [45435924, 45436179], [45441736, 45441865], [45458973, 45459065], [45461160, 45461221], [45488382, 45488472], [45500234, 45500378], [45515734, 45515842], [45517959, 45518119], [45527183, 45527288], [45530188, 45530304], [45533008, 45533292], [45537766, 45537865], [45541933, 45542071], [45554626, 45554727], [45557585, 45557768], [45559394, 45559564], [45561710, 45561788], [45565488, 45565600], [45583320, 45583448], [45588842, 45590913]] [[45435945, 45436179], [45441736, 45441865], [45458973, 45459065], [45461160, 45461221], [45488382, 45488472], [45500234, 45500378], [45515734, 45515842], [45517959, 45518119], [45527183, 45527288], [45530188, 45530304], [45533008, 45533292], [45537766, 45537865], [45541933, 45542071], [45554626, 45554727], [45557585, 45557768], [45559394, 45559564], [45561710, 45561788], [45565488, 45565600], [45583320, 45583448], [45588842, 45589022]]
ENST00000431023 [[45430055, 45430172], [45435924, 45436179], [45458973, 45459065], [45461160, 45461221], [45488382, 45488427]] [[45435945, 45436179], [45458973, 45459065], [45461160, 45461221], [45488382, 45488427]]
ENST00000414984 [[45430055, 45430172], [45435924, 45436179], [45458973, 45459065], [45461160, 45461221], [45488382, 45488472], [45500234, 45500378], [45515734, 45515842], [45517959, 45518119], [45527183, 45527288], [45530188, 45530304], [45533008, 45533292], [45537766, 45537865], [45541933, 45542071], [45554626, 45554727], [45557585, 45557768], [45559394, 45559564], [45561710, 45561788], [45565488, 45565600], [45583320, 45583448], [45588842, 45589101]] [[45435945, 45436179], [45458973, 45459065], [45461160, 45461221], [45488382, 45488472], [45500234, 45500378], [45515734, 45515842], [45517959, 45518119], [45527183, 45527288], [45530188, 45530304], [45533008, 45533292], [45537766, 45537865], [45541933, 45542071], [45554626, 45554727], [45557585, 45557768], [45559394, 45559564], [45561710, 45561788], [45565488, 45565600], [45583320, 45583448], [45588842, 45589022]]
ENST00000430399 [[45430110, 45430172], [45430524, 45430598], [45433074, 45433140], [45435924, 45436179], [45441736, 45441845]] [[45435945, 45436179], [45441736, 45441845]]
ENST00000467936 [[45542032, 45542071], [45554626, 45554727], [45557585, 45557768], [45559394, 45559564], [45561710, 45561788], [45565488, 45565600], [45579834, 45579955]] None
ENST00000485461 [[45559454, 45559564], [45561184, 45561282], [45561710, 45561788], [45565488, 45565600], [45583320, 45583448], [45588842, 45588896]] None
ENST00000474585 [[45583085, 45583448], [45588842, 45589046]] None
NM_015340 [[45430074, 45430172], [45433074, 45433140], [45435924, 45436179], [45441736, 45441865], [45458973, 45459065], [45461160, 45461221], [45488382, 45488472], [45500234, 45500378], [45515734, 45515842], [45517959, 45518119], [45527183, 45527288], [45530188, 45530304], [45533008, 45533292], [45537766, 45537865], [45541933, 45542071], [45554626, 45554727], [45557585, 45557768], [45559394, 45559564], [45561710, 45561788], [45565488, 45565600], [45583320, 45583448], [45588842, 45590328]] [[45435945, 45436179], [45441736, 45441865], [45458973, 45459065], [45461160, 45461221], [45488382, 45488472], [45500234, 45500378], [45515734, 45515842], [45517959, 45518119], [45527183, 45527288], [45530188, 45530304], [45533008, 45533292], [45537766, 45537865], [45541933, 45542071], [45554626, 45554727], [45557585, 45557768], [45559394, 45559564], [45561710, 45561788], [45565488, 45565600], [45583320, 45583448], [45588842, 45589022]]
Promoter
Chrom Start End Description
chr3 45430047 45430082 CAGE_peak_1_at_LARS2_5end
chr3 45430105 45430116 CAGE_peak_2_at_LARS2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I045610 45610017 45610935 0.2 [{'connected_gene': 'LIMD1', 'score': 35.63}, {'connected_gene': 'LIMD1-AS1', 'score': 10.42}, {'connected_gene': 'SACM1L', 'score': 10.42}, {'connected_gene': 'LARS2', 'score': 9.49}, {'connected_gene': 'PIR32515', 'score': 0.39}, {'connected_gene': 'GC03M045664', 'score': 0.23}]
chr3 GH03I045659 45659299 45661169 1.19 [{'connected_gene': 'LIMD1', 'score': 44.66}, {'connected_gene': 'LIMD1-AS1', 'score': 11.72}, {'connected_gene': 'SACM1L', 'score': 11.72}, {'connected_gene': 'LARS2-AS1', 'score': 11.51}, {'connected_gene': 'LARS2', 'score': 5.71}, {'connected_gene': 'GC03M045664', 'score': 0.77}, {'connected_gene': 'PIR32515', 'score': 0.21}]
chr3 GH03I045512 45511800 45512000 0.54 [{'connected_gene': 'LIMD1', 'score': 11.38}, {'connected_gene': 'LARS2', 'score': 5.85}, {'connected_gene': 'SACM1L', 'score': 4.14}, {'connected_gene': 'LARS2-AS1', 'score': 0.77}, {'connected_gene': 'PIR48083', 'score': 0.28}]
chr3 GH03I045605 45605858 45609556 1.07 [{'connected_gene': 'LIMD1', 'score': 31.87}, {'connected_gene': 'SACM1L', 'score': 20.35}, {'connected_gene': 'LIMD1-AS1', 'score': 10.81}, {'connected_gene': 'LARS2', 'score': 8.74}, {'connected_gene': 'CLEC3B', 'score': 4.26}, {'connected_gene': 'PIR32515', 'score': 0.39}, {'connected_gene': 'GC03M045664', 'score': 0.22}]
chr3 GH03I045599 45599009 45600708 0.83 [{'connected_gene': 'LIMD1', 'score': 23.36}, {'connected_gene': 'SACM1L', 'score': 9.08}, {'connected_gene': 'LARS2', 'score': 4.36}, {'connected_gene': 'PIR32515', 'score': 0.77}, {'connected_gene': 'GC03M045664', 'score': 0.2}]
chr3 GH03I045638 45638812 45648408 1.75 [{'connected_gene': 'LIMD1', 'score': 43.81}, {'connected_gene': 'SACM1L', 'score': 26.68}, {'connected_gene': 'LARS2-AS1', 'score': 10.93}, {'connected_gene': 'LIMD1-AS1', 'score': 10.84}, {'connected_gene': 'LARS2', 'score': 4.71}, {'connected_gene': 'CLEC3B', 'score': 4.21}, {'connected_gene': 'GC03M045664', 'score': 0.34}, {'connected_gene': 'PIR32515', 'score': 0.25}]
chr3 GH03I045463 45463672 45465556 1.23 [{'connected_gene': 'LIMD1', 'score': 10.38}, {'connected_gene': 'LARS2-AS1', 'score': 10.36}, {'connected_gene': 'CLEC3B', 'score': 9.78}, {'connected_gene': 'RNU5B-3P', 'score': 9.78}, {'connected_gene': 'ENSG00000202268', 'score': 9.72}, {'connected_gene': 'LARS2', 'score': 8.62}]
chr3 GH03I045649 45649763 45650456 0.2 [{'connected_gene': 'LIMD1', 'score': 12.24}, {'connected_gene': 'LARS2-AS1', 'score': 11.45}, {'connected_gene': 'LIMD1-AS1', 'score': 11.12}, {'connected_gene': 'SACM1L', 'score': 11.12}, {'connected_gene': 'CLEC3B', 'score': 10.25}, {'connected_gene': 'RNU5B-3P', 'score': 10.25}, {'connected_gene': 'ZNF502', 'score': 4.34}, {'connected_gene': 'LARS2', 'score': 4.06}, {'connected_gene': 'GC03M045664', 'score': 0.39}, {'connected_gene': 'PIR32515', 'score': 0.23}]
chr3 GH03I045631 45631002 45632213 1.53 [{'connected_gene': 'LIMD1', 'score': 36.94}, {'connected_gene': 'LARS2-AS1', 'score': 10.47}, {'connected_gene': 'LARS2', 'score': 9.58}, {'connected_gene': 'SACM1L', 'score': 9.41}, {'connected_gene': 'GC03M045664', 'score': 0.29}, {'connected_gene': 'PIR32515', 'score': 0.28}]
chr3 GH03I045529 45529597 45530167 0.2 [{'connected_gene': 'LIMD1', 'score': 12.33}, {'connected_gene': 'LARS2-AS1', 'score': 11.74}, {'connected_gene': 'PIR48083', 'score': 0.34}, {'connected_gene': 'LARS2', 'score': 0.11}]
chr3 GH03I045511 45511609 45511758 0.6 [{'connected_gene': 'LIMD1', 'score': 11.38}, {'connected_gene': 'LARS2-AS1', 'score': 0.77}, {'connected_gene': 'PIR48083', 'score': 0.28}, {'connected_gene': 'LARS2', 'score': 0.13}]
chr3 GH03I045536 45536401 45536600 0.4 [{'connected_gene': 'LIMD1-AS1', 'score': 10.09}, {'connected_gene': 'SACM1L', 'score': 10.09}, {'connected_gene': 'PIR48083', 'score': 0.37}, {'connected_gene': 'LARS2-AS1', 'score': 0.31}, {'connected_gene': 'LARS2', 'score': 0.11}]
chr3 GH03I045841 45841089 45842821 2.22 [{'connected_gene': 'LZTFL1', 'score': 561.0}, {'connected_gene': 'CCR9', 'score': 11.35}, {'connected_gene': 'SDHDP4', 'score': 11.35}, {'connected_gene': 'CXCR6', 'score': 10.65}, {'connected_gene': 'LARS2', 'score': 5.31}, {'connected_gene': 'GC03P045849', 'score': 0.44}, {'connected_gene': 'PIR58059', 'score': 0.37}]
chr3 GH03I045860 45860599 45862218 1 [{'connected_gene': 'SDHDP4', 'score': 11.61}, {'connected_gene': 'SLC6A20', 'score': 11.61}, {'connected_gene': 'CCR9', 'score': 11.59}, {'connected_gene': 'LZTFL1', 'score': 10.76}, {'connected_gene': 'LIMD1', 'score': 9.65}, {'connected_gene': 'LARS2', 'score': 5.31}, {'connected_gene': 'GC03P045849', 'score': 0.39}, {'connected_gene': 'GC03M045883', 'score': 0.34}]
chr3 GH03I045362 45362230 45363676 0.43 [{'connected_gene': 'TMEM158', 'score': 10.35}, {'connected_gene': 'LARS2', 'score': 7.75}, {'connected_gene': 'LOC105377062', 'score': 0.37}, {'connected_gene': 'GC03M045381', 'score': 0.37}]
chr3 GH03I045387 45387777 45390002 2.06 [{'connected_gene': 'LARS2', 'score': 556.58}, {'connected_gene': 'LIMD1', 'score': 14.99}, {'connected_gene': 'FYCO1', 'score': 12.85}, {'connected_gene': 'XCR1', 'score': 10.3}, {'connected_gene': 'LARS2-AS1', 'score': 0.13}]
chr3 GH03I045566 45566099 45568448 1.44 [{'connected_gene': 'LARS2', 'score': 12.66}, {'connected_gene': 'LIMD1', 'score': 9.07}, {'connected_gene': 'SACM1L', 'score': 4.46}, {'connected_gene': 'PIR41902', 'score': 0.31}]
chr3 GH03I045527 45527718 45529522 0.46 [{'connected_gene': 'LARS2', 'score': 31.19}, {'connected_gene': 'LIMD1', 'score': 12.33}, {'connected_gene': 'LARS2-AS1', 'score': 0.37}, {'connected_gene': 'PIR48083', 'score': 0.34}]
chr3 GH03I045557 45557490 45558783 0.2 [{'connected_gene': 'LARS2', 'score': 13.59}, {'connected_gene': 'LIMD1', 'score': 0.77}, {'connected_gene': 'PIR41902', 'score': 0.28}]
chr3 GH03I045559 45559569 45561458 0.92 [{'connected_gene': 'LARS2', 'score': 16.11}, {'connected_gene': 'LIMD1', 'score': 0.44}, {'connected_gene': 'PIR41902', 'score': 0.29}]
chr3 GH03I045497 45497847 45498425 0.2 [{'connected_gene': 'LARS2', 'score': 21.78}, {'connected_gene': 'CLEC3B', 'score': 10.65}, {'connected_gene': 'EXOSC7', 'score': 10.64}, {'connected_gene': 'LIMD1', 'score': 10.54}, {'connected_gene': 'TMEM158', 'score': 10.31}, {'connected_gene': 'LARS2-AS1', 'score': 0.39}]
chr3 GH03I045537 45537401 45539135 1.02 [{'connected_gene': 'LARS2', 'score': 31.22}, {'connected_gene': 'LIMD1-AS1', 'score': 10.09}, {'connected_gene': 'SACM1L', 'score': 10.09}, {'connected_gene': 'PIR48083', 'score': 0.39}, {'connected_gene': 'LARS2-AS1', 'score': 0.31}]
chr3 GH03I045544 45544044 45549354 1.62 [{'connected_gene': 'LARS2', 'score': 32.28}, {'connected_gene': 'LARS2-AS1', 'score': 10.79}, {'connected_gene': 'LIMD1', 'score': 1.55}, {'connected_gene': 'PIR48083', 'score': 0.77}]
chr3 GH03I045540 45540913 45542646 0.43 [{'connected_gene': 'LARS2', 'score': 14.84}, {'connected_gene': 'LARS2-AS1', 'score': 10.94}, {'connected_gene': 'LIMD1-AS1', 'score': 10.16}, {'connected_gene': 'SACM1L', 'score': 10.16}, {'connected_gene': 'PIR48083', 'score': 0.44}]
chr3 GH03I045487 45487187 45488284 0.66 [{'connected_gene': 'LARS2', 'score': 21.8}, {'connected_gene': 'LARS2-AS1', 'score': 0.34}]
chr3 GH03I045575 45575129 45576264 0.4 [{'connected_gene': 'SACM1L', 'score': 10.12}, {'connected_gene': 'LARS2', 'score': 9.29}, {'connected_gene': 'PIR41902', 'score': 0.37}, {'connected_gene': 'LIMD1', 'score': 0.34}]
chr3 GH03I045601 45601064 45602046 0.2 [{'connected_gene': 'SACM1L', 'score': 9.53}, {'connected_gene': 'LARS2', 'score': 8.61}, {'connected_gene': 'PIR32515', 'score': 0.44}, {'connected_gene': 'LIMD1', 'score': 0.25}, {'connected_gene': 'GC03M045664', 'score': 0.21}]
chr3 GH03I045471 45471040 45471388 0.23 [{'connected_gene': 'LARS2-AS1', 'score': 10.78}, {'connected_gene': 'LIMD1', 'score': 10.28}, {'connected_gene': 'ENSG00000202268', 'score': 10.09}, {'connected_gene': 'LARS2', 'score': 5.97}]
chr3 GH03I045479 45479095 45481198 0.97 [{'connected_gene': 'LARS2-AS1', 'score': 11.52}, {'connected_gene': 'TMEM158', 'score': 10.4}, {'connected_gene': 'LIMD1', 'score': 10.4}, {'connected_gene': 'CDCP1', 'score': 10.2}, {'connected_gene': 'ENSG00000202268', 'score': 10.08}, {'connected_gene': 'LARS2', 'score': 5.42}]
chr3 GH03I045507 45507389 45510758 1.06 [{'connected_gene': 'LARS2-AS1', 'score': 550.77}, {'connected_gene': 'LARS2', 'score': 31.8}, {'connected_gene': 'LIMD1', 'score': 20.47}]
chr3 GH03I045365 45365957 45368141 0.77 [{'connected_gene': 'ENSG00000202268', 'score': 10.19}, {'connected_gene': 'CDCP1', 'score': 9.95}, {'connected_gene': 'LIMD1', 'score': 9.69}, {'connected_gene': 'RNU5B-3P', 'score': 9.52}, {'connected_gene': 'CLEC3B', 'score': 9.51}, {'connected_gene': 'LARS2', 'score': 7.82}, {'connected_gene': 'GC03M045381', 'score': 0.37}, {'connected_gene': 'LOC105377062', 'score': 0.34}]
chr3 GH03I045549 45549868 45555595 1.59 [{'connected_gene': 'PIR48083', 'score': 550.77}, {'connected_gene': 'LARS2', 'score': 22.42}, {'connected_gene': 'LIMD1', 'score': 12.02}, {'connected_gene': 'SACM1L', 'score': 4.14}]
chr3 GH03I045664 45664126 45669298 1.37 [{'connected_gene': 'GC03M045664', 'score': 550.77}, {'connected_gene': 'SACM1L', 'score': 24.4}, {'connected_gene': 'LIMD1', 'score': 17.18}, {'connected_gene': 'LIMD1-AS1', 'score': 12.84}, {'connected_gene': 'LARS2-AS1', 'score': 11.35}, {'connected_gene': 'LARS2', 'score': 5.64}, {'connected_gene': 'PIR52455', 'score': 0.44}]
chr3 GH03I045592 45592614 45598684 1.75 [{'connected_gene': 'PIR32515', 'score': 550.77}, {'connected_gene': 'PIR41902', 'score': 550.77}, {'connected_gene': 'SACM1L', 'score': 12.6}, {'connected_gene': 'ZNF35', 'score': 10.77}, {'connected_gene': 'RN7SL145P', 'score': 10.12}, {'connected_gene': 'ZDHHC3', 'score': 10.05}, {'connected_gene': 'ZNF502', 'score': 9.9}, {'connected_gene': 'LARS2', 'score': 8.12}, {'connected_gene': 'LIMD1', 'score': 6.77}]
chr3 GH03I045462 45462801 45463200 0.49 [{'connected_gene': 'ENSG00000202268', 'score': 9.72}, {'connected_gene': 'LARS2-AS1', 'score': 0.25}, {'connected_gene': 'LARS2', 'score': 0.19}]

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