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
ENST00000554218 [[58605818, 58606132], [58758352, 58758425], [58764672, 58764857]] None
ENST00000267485 [[58467478, 58471522], [58471765, 58471900], [58478836, 58478868], [58563441, 58563699], [58598229, 58598439], [58599807, 58600059], [58604707, 58606132], [58618792, 58618931]] [[58471453, 58471522], [58471765, 58471900], [58478836, 58478868], [58563441, 58563699], [58598229, 58598439], [58599807, 58600059], [58604707, 58606076]]
ENST00000557175 [[58582833, 58583225], [58598229, 58598439], [58599807, 58600059], [58605065, 58605959]] None
ENST00000334342 [[58582841, 58583225], [58598229, 58598439], [58599807, 58600059], [58604707, 58606132], [58618792, 58618901]] None
ENST00000556788 [[58466452, 58466567], [58470624, 58470742]] None
ENST00000555101 [[58597924, 58598439], [58599807, 58599849]] None
Promoter
Chrom Start End Description
chr14 58618867 58618894 CAGE_peak_3_at_C14orf37_5end
chr14 58618896 58618939 CAGE_peak_2_at_C14orf37_5end
chr14 58764824 58764863 CAGE_peak_1_at_C14orf37_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I058242 58242808 58246401 2.23 [{'connected_gene': 'PSMA3', 'score': 550.77}, {'connected_gene': 'RNU6-341P', 'score': 12.61}, {'connected_gene': 'C14orf37', 'score': 12.6}, {'connected_gene': 'ARID4A', 'score': 12.6}, {'connected_gene': 'PSMA3-AS1', 'score': 9.04}, {'connected_gene': 'ENSG00000258682', 'score': 7.94}, {'connected_gene': 'TRK-CTT1-1', 'score': 0.77}, {'connected_gene': 'GC14P058110', 'score': 0.12}]
chr14 GH14I058280 58280564 58282943 1.56 [{'connected_gene': 'ACTR10', 'score': 22.62}, {'connected_gene': 'TOMM20L', 'score': 10.84}, {'connected_gene': 'ENSG00000258682', 'score': 8.7}, {'connected_gene': 'ARID4A', 'score': 5.8}, {'connected_gene': 'HMGB1P14', 'score': 0.77}, {'connected_gene': 'PIR55001', 'score': 0.39}, {'connected_gene': 'C14orf37', 'score': 0.37}, {'connected_gene': 'PSMA3-AS1', 'score': 0.37}]
chr14 GH14I058199 58199200 58201614 1.93 [{'connected_gene': 'ACTR10', 'score': 550.77}, {'connected_gene': 'PSMA3-AS1', 'score': 6.16}, {'connected_gene': 'C14orf37', 'score': 5.93}, {'connected_gene': 'TRK-CTT1-1', 'score': 0.28}, {'connected_gene': 'GC14P058110', 'score': 0.17}]
chr14 GH14I058198 58198203 58198352 0.31 [{'connected_gene': 'ACTR10', 'score': 550.77}, {'connected_gene': 'GC14P058189', 'score': 0.44}, {'connected_gene': 'GC14P058110', 'score': 0.17}, {'connected_gene': 'C14orf37', 'score': 0.15}]
chr14 GH14I058138 58138091 58138684 0.72 [{'connected_gene': 'ACTR10', 'score': 13.97}, {'connected_gene': 'ENSG00000259969', 'score': 4.82}, {'connected_gene': 'UBA52P3', 'score': 0.77}, {'connected_gene': 'PIR47835', 'score': 0.37}, {'connected_gene': 'GC14P058110', 'score': 0.31}, {'connected_gene': 'C14orf37', 'score': 0.1}]
chr14 GH14I058287 58287643 58287792 0.9 [{'connected_gene': 'LINC00216', 'score': 550.77}, {'connected_gene': 'HMGB1P14', 'score': 0.77}, {'connected_gene': 'C14orf37', 'score': 0.39}, {'connected_gene': 'PSMA3-AS1', 'score': 0.39}]
chr14 GH14I058104 58104883 58105032 0.75 [{'connected_gene': 'TOMM20L', 'score': 20.1}, {'connected_gene': 'ENSG00000259969', 'score': 11.88}, {'connected_gene': 'SLC35F4', 'score': 11.36}, {'connected_gene': 'RPL31P4', 'score': 10.08}, {'connected_gene': 'LOC440181', 'score': 9.8}, {'connected_gene': 'GC14M058071', 'score': 0.77}, {'connected_gene': 'GC14P058110', 'score': 0.44}, {'connected_gene': 'C14orf37', 'score': 0.08}]
chr14 GH14I058274 58274508 58276383 0.51 [{'connected_gene': 'TOMM20L', 'score': 11.15}, {'connected_gene': 'ENSG00000258682', 'score': 7.76}, {'connected_gene': 'PIR55001', 'score': 0.77}, {'connected_gene': 'HMGB1P14', 'score': 0.44}, {'connected_gene': 'C14orf37', 'score': 0.34}, {'connected_gene': 'PSMA3-AS1', 'score': 0.34}]
chr14 GH14I058296 58296200 58300650 2.53 [{'connected_gene': 'PSMA3-AS1', 'score': 570.55}, {'connected_gene': 'ARID4A', 'score': 557.25}, {'connected_gene': 'C14orf37', 'score': 550.77}, {'connected_gene': 'KIAA0586', 'score': 25.08}, {'connected_gene': 'ENSG00000258682', 'score': 24.68}, {'connected_gene': 'TIMM9', 'score': 13.82}, {'connected_gene': 'TOMM20L', 'score': 10.77}, {'connected_gene': 'ACTR10', 'score': 6.46}, {'connected_gene': 'GC14P058345', 'score': 0.25}]
chr14 GH14I057977 57977319 57977579 0.22 [{'connected_gene': 'SLC35F4', 'score': 8.25}, {'connected_gene': 'ACTR10', 'score': 1.37}, {'connected_gene': 'C14orf37', 'score': 1.35}, {'connected_gene': 'GC14M057931', 'score': 0.39}]
chr14 GH14I057760 57760270 57760649 0.22 [{'connected_gene': 'SLC35F4', 'score': 13.62}, {'connected_gene': 'NAA30', 'score': 2.76}, {'connected_gene': 'ACTR10', 'score': 1.76}, {'connected_gene': 'EXOC5', 'score': 1.61}, {'connected_gene': 'C14orf37', 'score': 1.51}, {'connected_gene': 'RN7SKP99', 'score': 0.18}, {'connected_gene': 'GC14M057656', 'score': 0.18}]
chr14 GH14I058283 58283125 58284541 0.82 [{'connected_gene': 'HMGB1P14', 'score': 550.77}, {'connected_gene': 'ENSG00000258682', 'score': 5.77}, {'connected_gene': 'C14orf37', 'score': 0.39}, {'connected_gene': 'PSMA3-AS1', 'score': 0.39}, {'connected_gene': 'PIR55001', 'score': 0.39}]
chr14 GH14I058151 58151243 58152915 1.8 [{'connected_gene': 'C14orf37', 'score': 560.48}, {'connected_gene': 'GC14P058142', 'score': 0.39}, {'connected_gene': 'RN7SL598P', 'score': 0.31}, {'connected_gene': 'GC14P058110', 'score': 0.26}]
chr14 GH14I058076 58076996 58079613 0.77 [{'connected_gene': 'C14orf37', 'score': 10.53}, {'connected_gene': 'LOC100420347', 'score': 0.34}, {'connected_gene': 'GC14M058071', 'score': 0.34}, {'connected_gene': 'GC14M058040', 'score': 0.31}]
chr14 GH14I058081 58081424 58083331 0.92 [{'connected_gene': 'C14orf37', 'score': 10.62}, {'connected_gene': 'LOC100420347', 'score': 0.37}, {'connected_gene': 'GC14M058071', 'score': 0.37}, {'connected_gene': 'GC14M058040', 'score': 0.29}]
chr14 GH14I058072 58072703 58072832 0.64 [{'connected_gene': 'C14orf37', 'score': 7.86}, {'connected_gene': 'GC14M058040', 'score': 0.34}, {'connected_gene': 'LOC100420347', 'score': 0.31}, {'connected_gene': 'GC14M058071', 'score': 0.31}]
chr14 GH14I058131 58131432 58131892 0.74 [{'connected_gene': 'UBA52P3', 'score': 0.44}, {'connected_gene': 'PIR47835', 'score': 0.39}, {'connected_gene': 'GC14P058110', 'score': 0.34}, {'connected_gene': 'C14orf37', 'score': 0.1}]
chr14 GH14I058133 58133043 58133192 0.2 [{'connected_gene': 'UBA52P3', 'score': 0.44}, {'connected_gene': 'PIR47835', 'score': 0.39}, {'connected_gene': 'GC14P058110', 'score': 0.34}, {'connected_gene': 'C14orf37', 'score': 0.1}]
chr14 GH14I058260 58260120 58260720 0.24 [{'connected_gene': 'RNU6-341P', 'score': 11.7}, {'connected_gene': 'TOMM20L', 'score': 10.32}, {'connected_gene': 'ENSG00000258682', 'score': 0.77}, {'connected_gene': 'PSMA3', 'score': 0.37}, {'connected_gene': 'C14orf37', 'score': 0.28}]
chr14 GH14I058238 58238020 58240999 1.6 [{'connected_gene': 'TRK-CTT1-1', 'score': 550.77}, {'connected_gene': 'ARID4A', 'score': 12.77}, {'connected_gene': 'DACT1', 'score': 12.75}, {'connected_gene': 'KIAA0586', 'score': 10.26}, {'connected_gene': 'ENSG00000258682', 'score': 7.5}, {'connected_gene': 'PSMA3-AS1', 'score': 7.34}, {'connected_gene': 'C14orf37', 'score': 5.44}, {'connected_gene': 'ACTR10', 'score': 0.28}, {'connected_gene': 'GC14P058110', 'score': 0.13}]
chr14 GH14I058271 58271639 58273614 1.07 [{'connected_gene': 'PIR55001', 'score': 550.77}, {'connected_gene': 'ENSG00000258682', 'score': 8.15}, {'connected_gene': 'HMGB1P14', 'score': 0.39}, {'connected_gene': 'PSMA3', 'score': 0.31}, {'connected_gene': 'C14orf37', 'score': 0.31}, {'connected_gene': 'PSMA3-AS1', 'score': 0.31}]
chr14 GH14I058121 58121053 58121196 0.2 [{'connected_gene': 'PIR47835', 'score': 550.77}, {'connected_gene': 'GC14P058110', 'score': 0.39}, {'connected_gene': 'C14orf37', 'score': 0.1}]
chr14 GH14I058166 58166401 58166801 0.87 [{'connected_gene': 'ENSG00000259969', 'score': 5.16}, {'connected_gene': 'RN7SL598P', 'score': 0.39}, {'connected_gene': 'GC14P058142', 'score': 0.31}, {'connected_gene': 'GC14P058110', 'score': 0.22}, {'connected_gene': 'C14orf37', 'score': 0.12}]
chr14 GH14I058170 58170651 58171852 1.43 [{'connected_gene': 'ENSG00000259969', 'score': 4.38}, {'connected_gene': 'RN7SL598P', 'score': 0.44}, {'connected_gene': 'GC14P058142', 'score': 0.31}, {'connected_gene': 'GC14P058110', 'score': 0.21}, {'connected_gene': 'C14orf37', 'score': 0.13}]