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
ENST00000493183 [[2517929, 2518030], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2519988, 2520064], [2520360, 2520479], [2520848, 2521071]] None
ENST00000474659 [[2517978, 2518030], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2519988, 2520064], [2520392, 2520479], [2520848, 2521097]] None
ENST00000419916 [[2518213, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2519988, 2520064], [2520360, 2520479], [2520848, 2522907]] [[2518234, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2519988, 2520064], [2520360, 2520479], [2520848, 2520866]]
ENST00000378424 [[2518218, 2518387], [2518529, 2518734], [2519179, 2519231], [2519774, 2519892], [2519988, 2520064], [2520392, 2520479], [2520848, 2522906]] [[2518234, 2518387], [2518529, 2518734], [2519179, 2519231], [2519774, 2519892], [2519988, 2520064], [2520392, 2520479], [2520848, 2520853]]
ENST00000537325 [[2518234, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2520395, 2520479], [2520848, 2521386]] [[2518234, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2520395, 2520479], [2520848, 2520866]]
ENST00000378427 [[2518236, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2519988, 2520064], [2520392, 2520479], [2520848, 2522902]] [[2518236, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2519988, 2520064], [2520392, 2520479], [2520848, 2520853]]
ENST00000378425 [[2518248, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2519988, 2520064], [2520360, 2520479], [2520848, 2522902]] [[2518324, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2519988, 2520064], [2520360, 2520479], [2520848, 2520866]]
ENST00000464043 [[2518255, 2518312], [2518552, 2518734], [2519179, 2519231], [2519828, 2519892], [2519988, 2520064], [2520360, 2520479], [2520848, 2521244]] None
ENST00000444521 [[2518257, 2518387], [2518529, 2518734], [2519179, 2519231], [2519774, 2519892], [2519988, 2520064], [2520360, 2520479], [2520848, 2522906]] [[2518324, 2518387], [2518529, 2518734], [2519179, 2519231], [2519774, 2519892], [2519988, 2520064], [2520360, 2520479], [2520848, 2520866]]
ENST00000465233 [[2518271, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2519968, 2520064], [2520360, 2520416]] [[2518271, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2519968, 2520064], [2520360, 2520416]]
ENST00000498083 [[2518315, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2520360, 2520431]] [[2518315, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2520360, 2520431]]
ENST00000481683 [[2518480, 2518734], [2519179, 2519231], [2519828, 2519892], [2519968, 2520064], [2520360, 2520479], [2520848, 2520952]] None
ENST00000484099 [[2518516, 2518734], [2519179, 2519231], [2519828, 2519892], [2519968, 2520064], [2520392, 2520479], [2520848, 2522908]] None
ENST00000477045 [[2518523, 2518734], [2519179, 2519231], [2519828, 2520184]] None
ENST00000476686 [[2520032, 2520479], [2520848, 2522907]] None
NR_036638 [[2517898, 2518030], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2519988, 2520064], [2520392, 2520479], [2520848, 2522908]] None
NR_036637 [[2517898, 2518030], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2519988, 2520064], [2520360, 2520479], [2520848, 2522908]] None
NM_001195741 [[2518188, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2520395, 2520479], [2520848, 2522908]] [[2518234, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2520395, 2520479], [2520848, 2520866]]
NM_001195740 [[2518188, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2520392, 2520479], [2520848, 2522908]] [[2518234, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2520392, 2520479], [2520848, 2520866]]
NM_001195738 [[2518188, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2519988, 2520064], [2520392, 2520479], [2520848, 2522908]] [[2518234, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2519988, 2520064], [2520392, 2520479], [2520848, 2520853]]
NM_152371 [[2518188, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2519988, 2520064], [2520360, 2520479], [2520848, 2522908]] [[2518234, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2519988, 2520064], [2520360, 2520479], [2520848, 2520866]]
NM_001195737 [[2518188, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2519968, 2520064], [2520392, 2520479], [2520848, 2522908]] [[2518234, 2518387], [2518529, 2518734], [2519179, 2519231], [2519828, 2519892], [2519968, 2520064], [2520392, 2520479], [2520848, 2520866]]
NM_001195736 [[2518188, 2518387], [2518529, 2518734], [2519179, 2519231], [2519774, 2519892], [2519988, 2520064], [2520360, 2520479], [2520848, 2522908]] [[2518234, 2518387], [2518529, 2518734], [2519179, 2519231], [2519774, 2519892], [2519988, 2520064], [2520360, 2520479], [2520848, 2520866]]
Promoter
Chrom Start End Description
chr1 2517953 2517968 CAGE_peak_4_at_FAM213B_5end
chr1 2518202 2518291 CAGE_peak_1_at_FAM213B_5end
chr1 2518488 2518555 CAGE_peak_2_at_FAM213B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I002640 2640940 2644129 1.49 [{'connected_gene': 'MMEL1', 'score': 41.7}, {'connected_gene': 'ACTRT2', 'score': 14.69}, {'connected_gene': 'FAM213B', 'score': 7.94}, {'connected_gene': 'MORN1', 'score': 1.4}, {'connected_gene': 'PANK4', 'score': 1.26}, {'connected_gene': 'GC01M002636', 'score': 0.77}, {'connected_gene': 'GC01P002648', 'score': 0.44}, {'connected_gene': 'TTC34', 'score': 0.1}]
chr1 GH01I002559 2559584 2565797 0.98 [{'connected_gene': 'MMEL1', 'score': 18.53}, {'connected_gene': 'FAM213B', 'score': 9.3}, {'connected_gene': 'TNFRSF14-AS1', 'score': 5.61}, {'connected_gene': 'ENSG00000225931', 'score': 0.77}, {'connected_gene': 'GC01P002557', 'score': 0.77}, {'connected_gene': 'TNFRSF14', 'score': 0.44}, {'connected_gene': 'GC01M002564', 'score': 0.39}]
chr1 GH01I002594 2594001 2594400 0.66 [{'connected_gene': 'MMEL1', 'score': 33.19}, {'connected_gene': 'FAM213B', 'score': 0.44}, {'connected_gene': 'LOC105378597', 'score': 0.28}]
chr1 GH01I002631 2631084 2633767 1.15 [{'connected_gene': 'MMEL1', 'score': 582.35}, {'connected_gene': 'LOC105378597', 'score': 550.77}, {'connected_gene': 'FAM213B', 'score': 8.48}]
chr1 GH01I002610 2610257 2611934 0.87 [{'connected_gene': 'MMEL1', 'score': 29.15}, {'connected_gene': 'LOC105378597', 'score': 0.34}, {'connected_gene': 'FAM213B', 'score': 0.34}]
chr1 GH01I002580 2580823 2588004 2.25 [{'connected_gene': 'FAM213B', 'score': 559.8}, {'connected_gene': 'MMEL1', 'score': 30.46}, {'connected_gene': 'CDK11A', 'score': 11.18}, {'connected_gene': 'GC01M002574', 'score': 0.44}, {'connected_gene': 'LOC100996583', 'score': 0.37}]
chr1 GH01I002592 2592801 2593000 0.51 [{'connected_gene': 'FAM213B', 'score': 0.44}, {'connected_gene': 'LOC105378597', 'score': 0.28}, {'connected_gene': 'MMEL1', 'score': 0.26}]
chr1 GH01I002554 2554435 2559281 2.14 [{'connected_gene': 'GC01P002557', 'score': 550.77}, {'connected_gene': 'TNFRSF14', 'score': 550.77}, {'connected_gene': 'TNFRSF14-AS1', 'score': 550.77}, {'connected_gene': 'MMEL1', 'score': 18.19}, {'connected_gene': 'FAM213B', 'score': 6.25}]
chr1 GH01I002574 2574363 2579599 1.74 [{'connected_gene': 'GC01M002574', 'score': 550.77}, {'connected_gene': 'GC01M002564', 'score': 550.77}, {'connected_gene': 'MMEL1', 'score': 27.71}, {'connected_gene': 'TNFRSF14', 'score': 13.99}, {'connected_gene': 'FAM213B', 'score': 9.45}, {'connected_gene': 'SKI', 'score': 7.15}, {'connected_gene': 'LOC100996583', 'score': 0.39}]
chr1 GH01I002543 2543335 2550837 2.12 [{'connected_gene': 'GC01M002542', 'score': 550.77}, {'connected_gene': 'ENSG00000272449', 'score': 550.77}, {'connected_gene': 'LOC100288379', 'score': 37.53}, {'connected_gene': 'CDK11A', 'score': 33.31}, {'connected_gene': 'SLC35E2', 'score': 32.23}, {'connected_gene': 'LOC100129381', 'score': 22.22}, {'connected_gene': 'TNFRSF14', 'score': 21.58}, {'connected_gene': 'FAAP20', 'score': 19.7}, {'connected_gene': 'MMEL1', 'score': 18.46}, {'connected_gene': 'RER1', 'score': 13.84}, {'connected_gene': 'ENSG00000234396', 'score': 13.28}, {'connected_gene': 'SLC35E2B', 'score': 12.84}, {'connected_gene': 'ENSG00000225931', 'score': 10.8}, {'connected_gene': 'MORN1', 'score': 10.27}, {'connected_gene': 'FAM213B', 'score': 6.66}, {'connected_gene': 'ENSG00000224387', 'score': 6.32}, {'connected_gene': 'SKI', 'score': 3.71}, {'connected_gene': 'PANK4', 'score': 1.48}, {'connected_gene': 'TNFRSF14-AS1', 'score': 0.44}]

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