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
ENST00000282226 [[79783787, 79783967], [79797610, 79797736], [79809422, 79809588], [79815511, 79815729], [79817821, 79817957], [79837491, 79838382]] [[79783942, 79783967], [79797610, 79797736], [79809422, 79809588], [79815511, 79815729], [79817821, 79817957], [79837491, 79837651]]
ENST00000511718 [[79783804, 79783967], [79790871, 79791102], [79795703, 79795804], [79797610, 79797736], [79801761, 79801895], [79806532, 79806905], [79809422, 79809588], [79814582, 79814749], [79815511, 79815729], [79817821, 79817957], [79837491, 79837861]] None
ENST00000502608 [[79783787, 79783967], [79797610, 79797736], [79801761, 79801895], [79806558, 79806626]] [[79783942, 79783967], [79797610, 79797736], [79801761, 79801814]]
ENST00000507084 [[79783942, 79783967], [79790871, 79791102], [79795703, 79795804], [79797610, 79797736], [79809422, 79809480]] None
ENST00000509292 [[79797623, 79797736], [79809422, 79809588], [79815511, 79815729], [79817821, 79818343]] None
NM_205548 [[79783799, 79783967], [79797610, 79797736], [79809422, 79809588], [79815511, 79815729], [79817821, 79817957], [79837491, 79838382]] [[79783942, 79783967], [79797610, 79797736], [79809422, 79809588], [79815511, 79815729], [79817821, 79817957], [79837491, 79837651]]
Promoter
Chrom Start End Description
chr5 79783817 79783842 CAGE_peak_2_at_FAM151B_5end
chr5 79783913 79783946 CAGE_peak_1_at_FAM151B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I080124 80124463 80127599 1.58 [{'connected_gene': 'ZFYVE16', 'score': 18.53}, {'connected_gene': 'MTX3', 'score': 14.58}, {'connected_gene': 'JMY', 'score': 10.24}, {'connected_gene': 'SERINC5', 'score': 8.11}, {'connected_gene': 'FAM151B', 'score': 3.35}, {'connected_gene': 'ENSG00000251675', 'score': 0.77}, {'connected_gene': 'GC05P080097', 'score': 0.31}]
chr5 GH05I080122 80122605 80122904 0.9 [{'connected_gene': 'ZFYVE16', 'score': 11.34}, {'connected_gene': 'FAM151B', 'score': 3.78}, {'connected_gene': 'ENSG00000251675', 'score': 0.44}, {'connected_gene': 'GC05P080097', 'score': 0.31}, {'connected_gene': 'SERINC5', 'score': 0.12}]
chr5 GH05I080410 80410801 80411000 0.2 [{'connected_gene': 'ZFYVE16', 'score': 0.77}, {'connected_gene': 'FAM151B', 'score': 0.18}]
chr5 GH05I080406 80406401 80410401 2.25 [{'connected_gene': 'ZFYVE16', 'score': 556.66}, {'connected_gene': 'PAPD4', 'score': 19.48}, {'connected_gene': 'FAM151B', 'score': 0.18}]
chr5 GH05I080399 80399151 80400778 1.36 [{'connected_gene': 'ZFYVE16', 'score': 27.4}, {'connected_gene': 'RNU6-211P', 'score': 10.92}, {'connected_gene': 'DHFR', 'score': 6.72}, {'connected_gene': 'FAM151B', 'score': 4.18}, {'connected_gene': 'GC05M080366', 'score': 0.29}]
chr5 GH05I080411 80411401 80412000 0.63 [{'connected_gene': 'DHFR', 'score': 6.57}, {'connected_gene': 'ZFYVE16', 'score': 0.77}, {'connected_gene': 'FAM151B', 'score': 0.18}]
chr5 GH05I080481 80481442 80481551 0.66 [{'connected_gene': 'FAM151B', 'score': 0.44}, {'connected_gene': 'ZFYVE16', 'score': 0.19}]
chr5 GH05I080492 80492547 80494839 0.91 [{'connected_gene': 'RNU6-211P', 'score': 9.99}, {'connected_gene': 'ZFYVE16', 'score': 5.46}, {'connected_gene': 'LOC105379049', 'score': 0.44}, {'connected_gene': 'FAM151B', 'score': 0.44}, {'connected_gene': 'RPS27AP9', 'score': 0.44}]
chr5 GH05I080487 80487108 80490800 2.01 [{'connected_gene': 'LOC105379049', 'score': 550.77}, {'connected_gene': 'FAM151B', 'score': 550.77}, {'connected_gene': 'ZCCHC9', 'score': 25.34}, {'connected_gene': 'PAPD4', 'score': 15.85}, {'connected_gene': 'CKMT2-AS1', 'score': 15.85}, {'connected_gene': 'MTX3', 'score': 10.47}, {'connected_gene': 'ZFYVE16', 'score': 6.07}, {'connected_gene': 'DHFR', 'score': 5.33}, {'connected_gene': 'RPS27AP9', 'score': 0.39}]
chr5 GH05I080491 80491516 80491611 0.31 [{'connected_gene': 'LOC105379049', 'score': 0.77}, {'connected_gene': 'FAM151B', 'score': 0.77}, {'connected_gene': 'RPS27AP9', 'score': 0.44}]
chr5 GH05I080466 80466530 80468236 0.67 [{'connected_gene': 'CTD-2201I18.1', 'score': 9.69}, {'connected_gene': 'THBS4', 'score': 9.68}, {'connected_gene': 'DHFR', 'score': 5.35}, {'connected_gene': 'ZFYVE16', 'score': 4.97}, {'connected_gene': 'FAM151B', 'score': 0.34}]
chr5 GH05I080516 80516962 80517111 0.66 [{'connected_gene': 'RPL7P24', 'score': 0.37}, {'connected_gene': 'FAM151B', 'score': 0.31}, {'connected_gene': 'ANKRD34B', 'score': 0.22}]
chr5 GH05I080503 80503001 80504200 0.31 [{'connected_gene': 'RPL7P24', 'score': 0.77}, {'connected_gene': 'FAM151B', 'score': 0.37}, {'connected_gene': 'ANKRD34B', 'score': 0.2}]
chr5 GH05I080144 80144401 80146652 0.78 [{'connected_gene': 'GC05P080147', 'score': 550.77}, {'connected_gene': 'SERINC5', 'score': 12.71}, {'connected_gene': 'CTD-2201I18.1', 'score': 10.08}, {'connected_gene': 'THBS4', 'score': 9.98}, {'connected_gene': 'ZFYVE16', 'score': 4.46}, {'connected_gene': 'FAM151B', 'score': 2.34}, {'connected_gene': 'GC05M080138', 'score': 0.44}]