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
ENST00000343958 [[95470524, 95475332], [95478273, 95478422], [95479555, 95479684], [95483344, 95483472], [95485482, 95485585], [95486474, 95486621], [95488367, 95488470], [95498782, 95498862], [95500729, 95500813], [95501338, 95501407], [95502123, 95502195], [95502278, 95502337], [95507426, 95507477], [95528514, 95528602], [95531297, 95531454], [95535163, 95535315], [95546586, 95546617], [95546701, 95546769], [95566375, 95566520], [95602618, 95605043], [95611000, 95611240]] [[95475295, 95475332], [95478273, 95478422], [95479555, 95479684], [95483344, 95483472], [95485482, 95485585], [95486474, 95486621], [95488367, 95488470], [95498782, 95498862], [95500729, 95500813], [95501338, 95501407], [95502123, 95502195], [95502278, 95502337], [95507426, 95507477], [95528514, 95528602], [95531297, 95531454], [95535163, 95535315], [95546586, 95546617], [95546701, 95546769], [95566375, 95566520], [95602618, 95605043], [95611000, 95611016]]
ENST00000451107 [[95475173, 95475332], [95478273, 95478422], [95479555, 95479684], [95483344, 95483472], [95485482, 95485585], [95486474, 95486621], [95488367, 95488470], [95498782, 95498862], [95500729, 95500813], [95501338, 95501407], [95502123, 95502195], [95502278, 95502337], [95507426, 95507477], [95528514, 95528602], [95531297, 95531454], [95535163, 95535315], [95546586, 95546617], [95546701, 95546769], [95566375, 95566520], [95611000, 95611258]] [[95546750, 95546769], [95566375, 95566520], [95611000, 95611016]]
ENST00000546711 [[95479318, 95479684], [95483344, 95483472], [95485482, 95485585], [95486474, 95486621], [95488367, 95488470], [95498782, 95498862], [95500729, 95500813], [95501338, 95501407], [95502123, 95502195], [95502278, 95502337], [95507426, 95507477], [95528514, 95528602], [95531297, 95531454], [95535163, 95535315], [95546586, 95546617], [95546701, 95546769], [95566375, 95566520], [95602618, 95605043], [95611000, 95611240]] [[95479537, 95479684], [95483344, 95483472], [95485482, 95485585], [95486474, 95486621], [95488367, 95488470], [95498782, 95498862], [95500729, 95500813], [95501338, 95501407], [95502123, 95502195], [95502278, 95502337], [95507426, 95507477], [95528514, 95528602], [95531297, 95531454], [95535163, 95535315], [95546586, 95546617], [95546701, 95546769], [95566375, 95566520], [95602618, 95605043], [95611000, 95611016]]
ENST00000549499 [[95486603, 95486621], [95488367, 95488470], [95498782, 95498862], [95500729, 95500813], [95501338, 95501407], [95502123, 95502195], [95502278, 95502337], [95507426, 95507477], [95528514, 95528602], [95531297, 95531454], [95535163, 95535315], [95546586, 95546617], [95546701, 95546769], [95566375, 95566520], [95602618, 95605043], [95611000, 95611155]] [[95486603, 95486621], [95488367, 95488470], [95498782, 95498862], [95500729, 95500813], [95501338, 95501407], [95502123, 95502195], [95502278, 95502337], [95507426, 95507477], [95528514, 95528602], [95531297, 95531454], [95535163, 95535315], [95546586, 95546617], [95546701, 95546769], [95566375, 95566520], [95602618, 95605043], [95611000, 95611016]]
ENST00000548069 [[95474945, 95475332], [95479555, 95479684], [95483344, 95483472], [95485482, 95485563]] [[95475269, 95475332], [95479555, 95479684], [95483344, 95483472], [95485482, 95485563]]
ENST00000551521 [[95485482, 95485585], [95486474, 95486621], [95488367, 95488470], [95498782, 95498862], [95500729, 95500813], [95501338, 95501407], [95502123, 95502195], [95502278, 95502337], [95507426, 95507477], [95510613, 95510749]] [[95485482, 95485585], [95486474, 95486621], [95488367, 95488470], [95498782, 95498862], [95500729, 95500813], [95501338, 95501407], [95502123, 95502195], [95502278, 95502337], [95507426, 95507477], [95510613, 95510683]]
ENST00000550368 [[95582967, 95583255], [95583340, 95583417], [95602618, 95602732]] None
NM_018351 [[95470524, 95475332], [95478273, 95478422], [95479555, 95479684], [95483344, 95483472], [95485482, 95485585], [95486474, 95486621], [95488367, 95488470], [95498782, 95498862], [95500729, 95500813], [95501338, 95501407], [95502123, 95502195], [95502278, 95502337], [95507426, 95507477], [95528514, 95528602], [95531297, 95531454], [95535163, 95535315], [95546586, 95546617], [95546701, 95546769], [95566375, 95566520], [95602618, 95605043], [95611000, 95611240]] [[95475295, 95475332], [95478273, 95478422], [95479555, 95479684], [95483344, 95483472], [95485482, 95485585], [95486474, 95486621], [95488367, 95488470], [95498782, 95498862], [95500729, 95500813], [95501338, 95501407], [95502123, 95502195], [95502278, 95502337], [95507426, 95507477], [95528514, 95528602], [95531297, 95531454], [95535163, 95535315], [95546586, 95546617], [95546701, 95546769], [95566375, 95566520], [95602618, 95605043], [95611000, 95611016]]
Promoter
Chrom Start End Description
chr12 95510716 95510730 CAGE_peak_3_at_FGD6_5end
chr12 95510743 95510753 CAGE_peak_8_at_FGD6_5end
chr12 95611149 95611249 CAGE_peak_1_at_FGD6_5end
chr12 95611257 95611365 CAGE_peak_2_at_FGD6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I095072 95072001 95074851 2.06 [{'connected_gene': 'NR2C1', 'score': 550.77}, {'connected_gene': 'VEZT', 'score': 21.68}, {'connected_gene': 'NDUFA12', 'score': 11.63}, {'connected_gene': 'FGD6', 'score': 10.32}]
chr12 GH12I095147 95147849 95148428 0.49 [{'connected_gene': 'NDUFA12', 'score': 6.72}, {'connected_gene': 'SNRPF', 'score': 4.28}, {'connected_gene': 'RPL14P4', 'score': 0.34}, {'connected_gene': 'GC12P095210', 'score': 0.21}, {'connected_gene': 'FGD6', 'score': 0.2}]
chr12 GH12I094982 94982612 94985369 0.66 [{'connected_gene': 'NDUFA12', 'score': 19.55}, {'connected_gene': 'FGD6', 'score': 14.41}, {'connected_gene': 'SNRPF', 'score': 4.56}, {'connected_gene': 'GC12M094957', 'score': 0.44}, {'connected_gene': 'GC12M095002', 'score': 0.39}, {'connected_gene': 'GC12M095001', 'score': 0.39}, {'connected_gene': 'PIR32865', 'score': 0.39}, {'connected_gene': 'GC12M095000', 'score': 0.39}]
chr12 GH12I095198 95198198 95208554 1.69 [{'connected_gene': 'NDUFA12', 'score': 14.8}, {'connected_gene': 'FGD6', 'score': 10.3}, {'connected_gene': 'VEZT', 'score': 5.89}, {'connected_gene': 'GC12P095210', 'score': 0.44}, {'connected_gene': 'RPL14P4', 'score': 0.18}]
chr12 GH12I094972 94972536 94974207 0.31 [{'connected_gene': 'NDUFA12', 'score': 19.48}, {'connected_gene': 'FGD6', 'score': 14.47}, {'connected_gene': 'KRT19P2', 'score': 10.04}, {'connected_gene': 'MIR492', 'score': 10.04}, {'connected_gene': 'TMCC3', 'score': 10.0}, {'connected_gene': 'ENSG00000258365', 'score': 4.76}, {'connected_gene': 'GC12M094957', 'score': 0.77}, {'connected_gene': 'LOC105369915', 'score': 0.25}]
chr12 GH12I095143 95143837 95144310 0.4 [{'connected_gene': 'NDUFA12', 'score': 5.38}, {'connected_gene': 'RPL14P4', 'score': 0.37}, {'connected_gene': 'GC12P095210', 'score': 0.2}, {'connected_gene': 'FGD6', 'score': 0.19}]
chr12 GH12I094953 94953417 94955034 0.89 [{'connected_gene': 'FGD6', 'score': 8.36}, {'connected_gene': 'NDUFA12', 'score': 7.71}, {'connected_gene': 'USP44', 'score': 5.26}, {'connected_gene': 'GC12M094957', 'score': 0.34}, {'connected_gene': 'LOC105369915', 'score': 0.31}]
chr12 GH12I094989 94989856 94991004 0.43 [{'connected_gene': 'FGD6', 'score': 14.47}, {'connected_gene': 'NDUFA12', 'score': 14.16}, {'connected_gene': 'NR2C1', 'score': 12.02}, {'connected_gene': 'GC12M095002', 'score': 0.44}, {'connected_gene': 'GC12M095001', 'score': 0.44}, {'connected_gene': 'PIR32865', 'score': 0.44}, {'connected_gene': 'GC12M095000', 'score': 0.44}, {'connected_gene': 'GC12M094957', 'score': 0.39}]
chr12 GH12I095179 95179020 95179554 0.46 [{'connected_gene': 'FGD6', 'score': 21.81}, {'connected_gene': 'NDUFA12', 'score': 13.45}, {'connected_gene': 'VEZT', 'score': 11.46}, {'connected_gene': 'GC12P095210', 'score': 0.29}, {'connected_gene': 'RPL14P4', 'score': 0.23}]
chr12 GH12I095172 95172604 95174742 1.29 [{'connected_gene': 'FGD6', 'score': 21.07}, {'connected_gene': 'VEZT', 'score': 16.64}, {'connected_gene': 'NDUFA12', 'score': 13.54}, {'connected_gene': 'GC12P095210', 'score': 0.28}, {'connected_gene': 'RPL14P4', 'score': 0.25}]
chr12 GH12I095163 95163901 95165006 0.96 [{'connected_gene': 'FGD6', 'score': 20.85}, {'connected_gene': 'VEZT', 'score': 10.68}, {'connected_gene': 'NDUFA12', 'score': 8.45}, {'connected_gene': 'RPL14P4', 'score': 0.28}, {'connected_gene': 'GC12P095210', 'score': 0.25}]
chr12 GH12I095114 95114204 95119871 1.21 [{'connected_gene': 'FGD6', 'score': 37.93}, {'connected_gene': 'VEZT', 'score': 22.41}, {'connected_gene': 'NDUFA12', 'score': 8.19}, {'connected_gene': 'RPL14P4', 'score': 0.44}, {'connected_gene': 'GC12P095101', 'score': 0.37}]
chr12 GH12I095102 95102425 95104529 1.39 [{'connected_gene': 'FGD6', 'score': 21.99}, {'connected_gene': 'VEZT', 'score': 21.8}, {'connected_gene': 'CEP83', 'score': 10.35}, {'connected_gene': 'RNU6-808P', 'score': 9.89}, {'connected_gene': 'GC12P095101', 'score': 0.77}, {'connected_gene': 'RPL14P4', 'score': 0.34}]
chr12 GH12I095211 95211872 95220522 2.8 [{'connected_gene': 'FGD6', 'score': 562.98}, {'connected_gene': 'VEZT', 'score': 550.77}, {'connected_gene': 'METAP2', 'score': 13.29}, {'connected_gene': 'USP44', 'score': 9.98}, {'connected_gene': 'GC12P095210', 'score': 0.44}]
chr12 GH12I095129 95129840 95130720 0.46 [{'connected_gene': 'FGD6', 'score': 21.68}, {'connected_gene': 'VEZT', 'score': 16.88}, {'connected_gene': 'RPL14P4', 'score': 0.77}, {'connected_gene': 'GC12P095210', 'score': 0.18}]
chr12 GH12I095187 95187105 95188942 1.15 [{'connected_gene': 'FGD6', 'score': 21.62}, {'connected_gene': 'VEZT', 'score': 11.5}, {'connected_gene': 'GC12P095210', 'score': 0.34}, {'connected_gene': 'RPL14P4', 'score': 0.21}]
chr12 GH12I095180 95180404 95181723 0.98 [{'connected_gene': 'FGD6', 'score': 22.08}, {'connected_gene': 'VEZT', 'score': 17.32}, {'connected_gene': 'GC12P095210', 'score': 0.31}, {'connected_gene': 'RPL14P4', 'score': 0.22}]
chr12 GH12I095131 95131671 95132335 0.38 [{'connected_gene': 'FGD6', 'score': 21.91}, {'connected_gene': 'VEZT', 'score': 17.06}, {'connected_gene': 'RPL14P4', 'score': 0.44}, {'connected_gene': 'GC12P095210', 'score': 0.18}]
chr12 GH12I095230 95230635 95231833 0.89 [{'connected_gene': 'FGD6', 'score': 7.75}, {'connected_gene': 'GC12P095235', 'score': 0.77}, {'connected_gene': 'VEZT', 'score': 0.39}]
chr12 GH12I095168 95168465 95170432 1.21 [{'connected_gene': 'FGD6', 'score': 10.27}, {'connected_gene': 'GC12P095210', 'score': 0.26}, {'connected_gene': 'RPL14P4', 'score': 0.26}]
chr12 GH12I095066 95066585 95066734 0.31 [{'connected_gene': 'VEZT', 'score': 10.32}, {'connected_gene': 'FGD6', 'score': 10.32}, {'connected_gene': 'NR2C1', 'score': 0.44}, {'connected_gene': 'NDUFA12', 'score': 0.21}]
chr12 GH12I095177 95177181 95178954 0.57 [{'connected_gene': 'VEZT', 'score': 17.5}, {'connected_gene': 'FGD6', 'score': 11.46}, {'connected_gene': 'NDUFA12', 'score': 7.82}, {'connected_gene': 'GC12P095210', 'score': 0.29}, {'connected_gene': 'RPL14P4', 'score': 0.23}]
chr12 GH12I095133 95133405 95133554 0.2 [{'connected_gene': 'VEZT', 'score': 10.91}, {'connected_gene': 'FGD6', 'score': 10.91}, {'connected_gene': 'ENSG00000258365', 'score': 4.52}, {'connected_gene': 'RPL14P4', 'score': 0.44}, {'connected_gene': 'GC12P095210', 'score': 0.18}]
chr12 GH12I095182 95182578 95183702 1.04 [{'connected_gene': 'VEZT', 'score': 33.56}, {'connected_gene': 'FGD6', 'score': 11.48}, {'connected_gene': 'GC12P095210', 'score': 0.31}, {'connected_gene': 'RPL14P4', 'score': 0.22}]
chr12 GH12I095257 95257418 95257846 0.2 [{'connected_gene': 'VEZT', 'score': 10.64}, {'connected_gene': 'FGD6', 'score': 10.63}, {'connected_gene': 'GC12P095276', 'score': 0.37}, {'connected_gene': 'GC12P095235', 'score': 0.34}]
chr12 GH12I095335 95335233 95337194 1.03 [{'connected_gene': 'MIR331', 'score': 11.08}, {'connected_gene': 'FGD6', 'score': 6.81}, {'connected_gene': 'GC12P095319', 'score': 0.37}, {'connected_gene': 'GC12M095381', 'score': 0.26}, {'connected_gene': 'PIR53930', 'score': 0.26}, {'connected_gene': 'LOC105369917', 'score': 0.14}]
chr12 GH12I095286 95286870 95287242 0.3 [{'connected_gene': 'CBX3P5', 'score': 550.77}, {'connected_gene': 'MIR331', 'score': 10.55}, {'connected_gene': 'FGD6', 'score': 8.14}, {'connected_gene': 'GC12P095291', 'score': 0.77}, {'connected_gene': 'VEZT', 'score': 0.2}]
chr12 GH12I095083 95083459 95085653 0.84 [{'connected_gene': 'GC12M095086', 'score': 550.77}, {'connected_gene': 'NDUFA12', 'score': 8.69}, {'connected_gene': 'GC12M095077', 'score': 0.44}, {'connected_gene': 'FGD6', 'score': 0.12}]
chr12 GH12I095096 95096559 95097654 0.69 [{'connected_gene': 'PIR48896', 'score': 550.77}, {'connected_gene': 'FGD6', 'score': 11.26}, {'connected_gene': 'VEZT', 'score': 5.8}, {'connected_gene': 'GC12M095086', 'score': 0.39}]
chr12 GH12I095097 95097725 95099255 0.66 [{'connected_gene': 'PIR48896', 'score': 550.77}, {'connected_gene': 'FGD6', 'score': 9.53}, {'connected_gene': 'VEZT', 'score': 4.63}, {'connected_gene': 'GC12M095086', 'score': 0.39}]
chr12 GH12I095276 95276772 95277914 0.46 [{'connected_gene': 'GC12P095276', 'score': 550.77}, {'connected_gene': 'ENSG00000202470', 'score': 550.77}, {'connected_gene': 'FGD6', 'score': 7.38}, {'connected_gene': 'CBX3P5', 'score': 0.44}, {'connected_gene': 'VEZT', 'score': 0.22}]
chr12 GH12I095194 95194973 95195608 0.38 [{'connected_gene': 'GC12P095210', 'score': 0.37}, {'connected_gene': 'FGD6', 'score': 0.34}, {'connected_gene': 'RPL14P4', 'score': 0.2}]
chr12 GH12I095098 95096201 95096400 0.2 [{'connected_gene': 'PIR48896', 'score': 0.77}, {'connected_gene': 'GC12M095086', 'score': 0.39}, {'connected_gene': 'FGD6', 'score': 0.13}]
chr12 GH12I095318 95317543 95318912 0.91 [{'connected_gene': 'GC12P095319', 'score': 550.77}, {'connected_gene': 'RNU6-808P', 'score': 11.58}, {'connected_gene': 'FGD6', 'score': 6.78}, {'connected_gene': 'MIR3685', 'score': 0.44}, {'connected_gene': 'LOC105369917', 'score': 0.13}]

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