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
ENST00000604948 [[35591752, 35591841], [35592710, 35593437], [35595940, 35595988], [35596684, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35742896]] [[35592736, 35593437], [35595940, 35595988], [35596684, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35742772]]
ENST00000250377 [[35591768, 35591841], [35592157, 35593437], [35595940, 35595988], [35596684, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35743268]] [[35592736, 35593437], [35595940, 35595988], [35596684, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35742772]]
ENST00000321130 [[35591769, 35591841], [35592157, 35593437], [35596684, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35743166]] [[35592451, 35593437], [35596684, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35742772]]
ENST00000534898 [[35591775, 35591841], [35592157, 35593437], [35595940, 35595988], [35596684, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35743271]] [[35592451, 35593437], [35595940, 35595988], [35596684, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35742772]]
ENST00000603544 [[35591882, 35592012], [35592157, 35593437], [35596684, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35742876]] [[35592451, 35593437], [35596684, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35742772]]
ENST00000605870 [[35591927, 35592116], [35595940, 35595988], [35596684, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35743223]] [[35596766, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35742772]]
ENST00000557404 [[35591964, 35592116], [35596684, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35742691]] [[35596766, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35742691]]
ENST00000603611 [[35591051, 35591258], [35592157, 35592553]] [[35592451, 35592553]]
ENST00000603588 [[35591051, 35591258], [35593498, 35593616], [35596684, 35596817]] None
ENST00000604073 [[35591508, 35591707], [35592157, 35592510]] [[35592451, 35592510]]
ENST00000605201 [[35591759, 35591973], [35592157, 35592521]] [[35592451, 35592521]]
NM_001256679 [[35591526, 35591841], [35592710, 35593437], [35595940, 35595988], [35596684, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35743284]] [[35592736, 35593437], [35595940, 35595988], [35596684, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35742772]]
NM_001256678 [[35591526, 35591841], [35592157, 35593437], [35596684, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35743284]] [[35592451, 35593437], [35596684, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35742772]]
NM_014672 [[35591526, 35591841], [35592157, 35593437], [35595940, 35595988], [35596684, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35743284]] [[35592451, 35593437], [35595940, 35595988], [35596684, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35742772]]
NM_001256681 [[35591757, 35592116], [35596684, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35743284]] [[35596766, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35742772]]
NM_001256680 [[35591757, 35592116], [35595940, 35595988], [35596684, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35743284]] [[35596766, 35596817], [35649875, 35649983], [35735932, 35736081], [35739606, 35739802], [35742640, 35742772]]
Promoter
Chrom Start End Description
chr14 35591020 35591069 CAGE_peak_4_at_KIAA0391_5end
chr14 35591100 35591123 CAGE_peak_10_at_KIAA0391_5end
chr14 35591145 35591164 CAGE_peak_5_at_KIAA0391_5end
chr14 35591534 35591569 CAGE_peak_6_at_KIAA0391_5end
chr14 35591735 35591834 CAGE_peak_1_at_KIAA0391_5end
chr14 35591858 35591911 CAGE_peak_2_at_KIAA0391_5end
chr14 35591940 35591965 CAGE_peak_3_at_KIAA0391_5end
chr14 35591976 35591992 CAGE_peak_7_at_KIAA0391_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I035113 35113204 35115383 0.52 [{'connected_gene': 'KIAA0391', 'score': 11.47}, {'connected_gene': 'PSMA6', 'score': 9.05}, {'connected_gene': 'FAM177A1', 'score': 8.74}, {'connected_gene': 'PPP2R3C', 'score': 0.44}, {'connected_gene': 'ENSG00000279434', 'score': 0.31}]
chr14 GH14I034824 34824173 34825523 0.38 [{'connected_gene': 'KIAA0391', 'score': 4.56}, {'connected_gene': 'RALGAPA1', 'score': 4.26}, {'connected_gene': 'GC14M034846', 'score': 0.34}, {'connected_gene': 'BAZ1A', 'score': 0.23}, {'connected_gene': 'RPL12P6', 'score': 0.18}]
chr14 GH14I034842 34842535 34843860 1.18 [{'connected_gene': 'KIAA0391', 'score': 4.56}, {'connected_gene': 'GC14M034846', 'score': 0.77}, {'connected_gene': 'BAZ1A', 'score': 0.29}, {'connected_gene': 'RPL12P6', 'score': 0.15}]
chr14 GH14I035963 35963783 35967171 0.46 [{'connected_gene': 'KIAA0391', 'score': 5.39}, {'connected_gene': 'ENSG00000257614', 'score': 0.37}, {'connected_gene': 'ENSG00000258342', 'score': 0.2}, {'connected_gene': 'GC14M036054', 'score': 0.17}]
chr14 GH14I035140 35140835 35140984 0.72 [{'connected_gene': 'INSM2', 'score': 10.34}, {'connected_gene': 'RPL23AP70', 'score': 0.77}, {'connected_gene': 'KIAA0391', 'score': 0.37}, {'connected_gene': 'ENSG00000258790', 'score': 0.37}]
chr14 GH14I034495 34495743 34499200 1.23 [{'connected_gene': 'RPS19P3', 'score': 10.2}, {'connected_gene': 'SNX6', 'score': 7.69}, {'connected_gene': 'SPTSSA', 'score': 7.49}, {'connected_gene': 'KIAA0391', 'score': 4.46}, {'connected_gene': 'RPL23AP71', 'score': 0.39}, {'connected_gene': 'EAPP', 'score': 0.26}]
chr14 GH14I034826 34826318 34827382 0.31 [{'connected_gene': 'RPS19P3', 'score': 12.19}, {'connected_gene': 'EAPP', 'score': 10.53}, {'connected_gene': 'KIAA0391', 'score': 4.62}, {'connected_gene': 'GC14M034846', 'score': 0.37}, {'connected_gene': 'BAZ1A', 'score': 0.25}, {'connected_gene': 'RPL12P6', 'score': 0.17}]
chr14 GH14I035254 35254915 35255004 0.6 [{'connected_gene': 'RPL9P3', 'score': 0.44}, {'connected_gene': 'GC14P035238', 'score': 0.37}, {'connected_gene': 'KIAA0391', 'score': 0.12}, {'connected_gene': 'ENSG00000258790', 'score': 0.12}]
chr14 GH14I034855 34855942 34858432 1.1 [{'connected_gene': 'SNX6', 'score': 10.6}, {'connected_gene': 'FAM177A1', 'score': 10.07}, {'connected_gene': 'RPL23AP8', 'score': 8.31}, {'connected_gene': 'BAZ1A', 'score': 7.55}, {'connected_gene': 'KIAA0391', 'score': 5.07}, {'connected_gene': 'RALGAPA1', 'score': 4.26}, {'connected_gene': 'PPP2R3C', 'score': 1.87}, {'connected_gene': 'PSMA6', 'score': 1.23}, {'connected_gene': 'RNU7-41P', 'score': 0.39}, {'connected_gene': 'ENSG00000258738', 'score': 0.37}]
chr14 GH14I035276 35276107 35277024 0.2 [{'connected_gene': 'PSMA6', 'score': 557.41}, {'connected_gene': 'GC14P035263', 'score': 0.39}, {'connected_gene': 'ENSG00000258790', 'score': 0.1}, {'connected_gene': 'KIAA0391', 'score': 0.1}]
chr14 GH14I035212 35212718 35215608 1.1 [{'connected_gene': 'PSMA6', 'score': 25.07}, {'connected_gene': 'RPS19P3', 'score': 12.04}, {'connected_gene': 'EAPP', 'score': 10.02}, {'connected_gene': 'FAM177A1', 'score': 9.24}, {'connected_gene': 'PPP2R3C', 'score': 5.12}, {'connected_gene': 'MRPL57P8', 'score': 0.44}, {'connected_gene': 'SEPT7P1', 'score': 0.22}, {'connected_gene': 'KIAA0391', 'score': 0.16}, {'connected_gene': 'ENSG00000258790', 'score': 0.16}]
chr14 GH14I035291 35290645 35296179 2.27 [{'connected_gene': 'PSMA6', 'score': 561.5}, {'connected_gene': 'GC14P035293', 'score': 550.77}, {'connected_gene': 'GC14P035292', 'score': 550.77}, {'connected_gene': 'PPP2R3C', 'score': 21.72}, {'connected_gene': 'EAPP', 'score': 19.54}, {'connected_gene': 'RPS19P3', 'score': 10.53}, {'connected_gene': 'NFKBIA', 'score': 9.99}, {'connected_gene': 'FAM177A1', 'score': 9.98}, {'connected_gene': 'KIAA0391', 'score': 5.87}, {'connected_gene': 'RALGAPA1', 'score': 4.03}, {'connected_gene': 'GC14P035312', 'score': 0.37}, {'connected_gene': 'ENSG00000258790', 'score': 0.09}]
chr14 GH14I035277 35277053 35278288 0.43 [{'connected_gene': 'PSMA6', 'score': 550.77}, {'connected_gene': 'PPP2R3C', 'score': 21.8}, {'connected_gene': 'FAM177A1', 'score': 5.23}, {'connected_gene': 'GC14P035263', 'score': 0.37}, {'connected_gene': 'KIAA0391', 'score': 0.1}, {'connected_gene': 'ENSG00000258790', 'score': 0.1}]
chr14 GH14I035195 35195713 35198581 1.12 [{'connected_gene': 'PSMA6', 'score': 10.94}, {'connected_gene': 'PPP2R3C', 'score': 10.31}, {'connected_gene': 'FAM177A1', 'score': 8.27}, {'connected_gene': 'SRP54-AS1', 'score': 5.51}, {'connected_gene': 'NFKBIA', 'score': 3.54}, {'connected_gene': 'BAZ1A', 'score': 2.09}, {'connected_gene': 'MRPL57P8', 'score': 0.34}, {'connected_gene': 'SEPT7P1', 'score': 0.28}, {'connected_gene': 'ENSG00000258790', 'score': 0.19}, {'connected_gene': 'KIAA0391', 'score': 0.18}]
chr14 GH14I035200 35200871 35201410 0.31 [{'connected_gene': 'PSMA6', 'score': 12.7}, {'connected_gene': 'MRPL57P8', 'score': 0.37}, {'connected_gene': 'SEPT7P1', 'score': 0.26}, {'connected_gene': 'KIAA0391', 'score': 0.18}, {'connected_gene': 'ENSG00000258790', 'score': 0.18}]
chr14 GH14I035239 35239875 35240934 0.2 [{'connected_gene': 'PSMA6', 'score': 15.02}, {'connected_gene': 'FAM177A1', 'score': 5.54}, {'connected_gene': 'SRP54-AS1', 'score': 4.97}, {'connected_gene': 'GC14P035238', 'score': 0.77}, {'connected_gene': 'RPL9P3', 'score': 0.34}, {'connected_gene': 'KIAA0391', 'score': 0.13}, {'connected_gene': 'ENSG00000258790', 'score': 0.13}]
chr14 GH14I035120 35120562 35124322 2.31 [{'connected_gene': 'PPP2R3C', 'score': 582.8}, {'connected_gene': 'KIAA0391', 'score': 561.39}, {'connected_gene': 'ENSG00000258790', 'score': 550.77}, {'connected_gene': 'RPS19P3', 'score': 31.58}, {'connected_gene': 'EAPP', 'score': 28.34}, {'connected_gene': 'NFKBIA', 'score': 9.92}, {'connected_gene': 'FAM177A1', 'score': 8.72}, {'connected_gene': 'BAZ1A', 'score': 6.25}]
chr14 GH14I035155 35155802 35156799 0.76 [{'connected_gene': 'PPP2R3C', 'score': 24.36}, {'connected_gene': 'PSMA6', 'score': 4.65}, {'connected_gene': 'SEPT7P1', 'score': 0.77}, {'connected_gene': 'RPL23AP70', 'score': 0.39}, {'connected_gene': 'ENSG00000258790', 'score': 0.29}, {'connected_gene': 'KIAA0391', 'score': 0.28}]
chr14 GH14I035093 35093585 35093899 0.22 [{'connected_gene': 'PPP2R3C', 'score': 20.45}, {'connected_gene': 'ENSG00000279434', 'score': 0.44}, {'connected_gene': 'LOC101927178', 'score': 0.39}, {'connected_gene': 'KIAA0391', 'score': 0.31}, {'connected_gene': 'FAM177A1', 'score': 0.25}]
chr14 GH14I035136 35136001 35136400 0.2 [{'connected_gene': 'PPP2R3C', 'score': 23.48}, {'connected_gene': 'RPL23AP70', 'score': 0.44}, {'connected_gene': 'KIAA0391', 'score': 0.39}, {'connected_gene': 'ENSG00000258790', 'score': 0.39}]
chr14 GH14I035229 35229635 35229784 0.6 [{'connected_gene': 'DPRXP3', 'score': 0.44}, {'connected_gene': 'RPL7AP3', 'score': 0.44}, {'connected_gene': 'KIAA0391', 'score': 0.14}, {'connected_gene': 'ENSG00000258790', 'score': 0.14}]
chr14 GH14I035396 35396835 35407430 2.58 [{'connected_gene': 'NFKBIA', 'score': 564.42}, {'connected_gene': 'PPP2R3C', 'score': 7.91}, {'connected_gene': 'FAM177A1', 'score': 7.55}, {'connected_gene': 'RALGAPA1', 'score': 7.3}, {'connected_gene': 'PSMA6', 'score': 5.02}, {'connected_gene': 'KIAA0391', 'score': 4.62}, {'connected_gene': 'SRP54', 'score': 1.24}, {'connected_gene': 'RPLP0P3', 'score': 0.39}]
chr14 GH14I035201 35201883 35201929 0.2 [{'connected_gene': 'MRPL57P8', 'score': 0.37}, {'connected_gene': 'SEPT7P1', 'score': 0.26}, {'connected_gene': 'ENSG00000258790', 'score': 0.18}, {'connected_gene': 'KIAA0391', 'score': 0.18}]
chr14 GH14I035189 35189655 35189744 0.59 [{'connected_gene': 'MRPL57P8', 'score': 0.31}, {'connected_gene': 'SEPT7P1', 'score': 0.29}, {'connected_gene': 'KIAA0391', 'score': 0.2}, {'connected_gene': 'ENSG00000258790', 'score': 0.2}]
chr14 GH14I035158 35158615 35162271 1.41 [{'connected_gene': 'SEPT7P1', 'score': 550.77}, {'connected_gene': 'PSMA6', 'score': 41.97}, {'connected_gene': 'PPP2R3C', 'score': 10.15}, {'connected_gene': 'FAM177A1', 'score': 8.48}, {'connected_gene': 'SRP54-AS1', 'score': 6.11}, {'connected_gene': 'KIAA0391', 'score': 0.28}, {'connected_gene': 'ENSG00000258790', 'score': 0.28}, {'connected_gene': 'MRPL57P8', 'score': 0.22}]
chr14 GH14I034780 34780002 34783239 0.87 [{'connected_gene': 'FAM177A1', 'score': 9.56}, {'connected_gene': 'KIAA0391', 'score': 4.55}, {'connected_gene': 'BAZ1A', 'score': 1.86}, {'connected_gene': 'SRP54', 'score': 1.4}, {'connected_gene': 'RPL12P6', 'score': 0.26}, {'connected_gene': 'GC14M034846', 'score': 0.21}]
chr14 GH14I035203 35203230 35206331 1.04 [{'connected_gene': 'FAM177A1', 'score': 9.04}, {'connected_gene': 'NFKBIA', 'score': 1.21}, {'connected_gene': 'MRPL57P8', 'score': 0.39}, {'connected_gene': 'SEPT7P1', 'score': 0.25}, {'connected_gene': 'KIAA0391', 'score': 0.18}, {'connected_gene': 'ENSG00000258790', 'score': 0.18}]
chr14 GH14I034929 34929963 34931984 1.03 [{'connected_gene': 'FAM177A1', 'score': 10.91}, {'connected_gene': 'CFL2', 'score': 10.39}, {'connected_gene': 'RPS19P3', 'score': 10.06}, {'connected_gene': 'PPP2R3C', 'score': 8.06}, {'connected_gene': 'BAZ1A', 'score': 4.64}, {'connected_gene': 'EAPP', 'score': 4.25}, {'connected_gene': 'KIAA0391', 'score': 2.87}, {'connected_gene': 'NFKBIA', 'score': 1.75}, {'connected_gene': 'GC14M034933', 'score': 0.77}, {'connected_gene': 'ENSG00000258493', 'score': 0.39}, {'connected_gene': 'SRP54-AS1', 'score': 0.23}]
chr14 GH14I035202 35202262 35203072 0.38 [{'connected_gene': 'FAM177A1', 'score': 9.76}, {'connected_gene': 'SRP54-AS1', 'score': 5.15}, {'connected_gene': 'MRPL57P8', 'score': 0.37}, {'connected_gene': 'SEPT7P1', 'score': 0.26}, {'connected_gene': 'KIAA0391', 'score': 0.18}, {'connected_gene': 'ENSG00000258790', 'score': 0.18}]
chr14 GH14I035105 35105794 35105827 0.22 [{'connected_gene': 'RNU1-27P', 'score': 9.79}, {'connected_gene': 'EAPP', 'score': 9.79}, {'connected_gene': 'PPP2R3C', 'score': 0.37}, {'connected_gene': 'KIAA0391', 'score': 0.37}, {'connected_gene': 'ENSG00000279434', 'score': 0.37}, {'connected_gene': 'LOC101927178', 'score': 0.34}, {'connected_gene': 'FAM177A1', 'score': 0.21}]
chr14 GH14I034833 34833018 34834940 1.31 [{'connected_gene': 'BAZ1A', 'score': 8.92}, {'connected_gene': 'KIAA0391', 'score': 4.56}, {'connected_gene': 'FAM177A1', 'score': 2.25}, {'connected_gene': 'PPP2R3C', 'score': 1.68}, {'connected_gene': 'SRP54', 'score': 1.22}, {'connected_gene': 'GC14M034846', 'score': 0.39}, {'connected_gene': 'RPL12P6', 'score': 0.16}]
chr14 GH14I034699 34699061 34701333 1.38 [{'connected_gene': 'CFL2', 'score': 5.4}, {'connected_gene': 'KIAA0391', 'score': 4.3}, {'connected_gene': 'GC14P034695', 'score': 0.44}]
chr14 GH14I034884 34884185 34884419 0.78 [{'connected_gene': 'CFL2', 'score': 10.15}, {'connected_gene': 'BAZ1A', 'score': 9.21}, {'connected_gene': 'IGBP1P1', 'score': 6.53}, {'connected_gene': 'KIAA0391', 'score': 5.27}, {'connected_gene': 'ENSG00000258493', 'score': 0.28}]
chr14 GH14I035330 35330774 35343106 1.79 [{'connected_gene': 'GC14P035335', 'score': 550.77}, {'connected_gene': 'PSMA6', 'score': 52.13}, {'connected_gene': 'NFKBIA', 'score': 32.66}, {'connected_gene': 'PPP2R3C', 'score': 20.48}, {'connected_gene': 'BAZ1A', 'score': 15.31}, {'connected_gene': 'FAM177A1', 'score': 10.74}, {'connected_gene': 'SPTSSA', 'score': 4.9}, {'connected_gene': 'KIAA0391', 'score': 4.89}, {'connected_gene': 'RALGAPA1', 'score': 3.97}, {'connected_gene': 'SRP54', 'score': 1.22}, {'connected_gene': 'ENSG00000258860', 'score': 0.31}]
chr14 GH14I034872 34872275 34876511 2.3 [{'connected_gene': 'ENSG00000258738', 'score': 558.07}, {'connected_gene': 'BAZ1A', 'score': 550.77}, {'connected_gene': 'RPS19P3', 'score': 12.18}, {'connected_gene': 'RALGAPA1', 'score': 10.85}, {'connected_gene': 'EAPP', 'score': 10.53}, {'connected_gene': 'PPP2R3C', 'score': 7.69}, {'connected_gene': 'FAM177A1', 'score': 7.37}, {'connected_gene': 'SRP54', 'score': 6.53}, {'connected_gene': 'IGBP1P1', 'score': 5.97}, {'connected_gene': 'KIAA0391', 'score': 4.36}]

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