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
ENST00000263672 [[74660291, 74660444], [74676078, 74676162], [74676807, 74676968], [74680609, 74680744], [74687901, 74690076]] [[74660330, 74660444], [74676078, 74676162], [74676807, 74676968], [74680609, 74680744], [74687901, 74688088]]
ENST00000530257 [[74660305, 74660444], [74676078, 74676162], [74680655, 74680744], [74687901, 74688201]] [[74660330, 74660444], [74676078, 74676162], [74680655, 74680744], [74687901, 74688088]]
ENST00000526361 [[74660308, 74660444], [74676078, 74676162], [74680684, 74680744], [74687901, 74688393]] [[74676145, 74676162], [74680684, 74680744], [74687901, 74688088]]
ENST00000532972 [[74660309, 74660444], [74674639, 74674732], [74676078, 74676162], [74676807, 74676968], [74680609, 74680744], [74687901, 74688132]] [[74660330, 74660444], [74674639, 74674732], [74676078, 74676162], [74676807, 74676968], [74680609, 74680744], [74687901, 74688088]]
ENST00000527290 [[74660315, 74660444], [74676078, 74676214]] None
ENST00000528265 [[74660322, 74660391], [74688154, 74688662]] None
ENST00000527225 [[74660323, 74660444], [74687901, 74688101]] None
ENST00000526883 [[74660568, 74660694], [74676078, 74676162], [74676807, 74676968], [74680609, 74680736]] [[74660568, 74660694], [74676078, 74676162], [74676807, 74676968], [74680609, 74680736]]
NM_014752 [[74660291, 74660444], [74676078, 74676162], [74676807, 74676968], [74680609, 74680744], [74687901, 74690076]] [[74660330, 74660444], [74676078, 74676162], [74676807, 74676968], [74680609, 74680744], [74687901, 74688088]]
Promoter
Chrom Start End Description
chr11 74660278 74660334 CAGE_peak_1_at_SPCS2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I075022 75022327 75024421 1.05 [{'connected_gene': 'SPCS2', 'score': 11.16}, {'connected_gene': 'XRRA1', 'score': 11.16}, {'connected_gene': 'OR2AT4', 'score': 10.8}, {'connected_gene': 'SLCO2B1', 'score': 10.77}, {'connected_gene': 'ENSG00000254429', 'score': 10.6}, {'connected_gene': 'NEU3', 'score': 6.34}, {'connected_gene': 'PIR50270', 'score': 0.44}, {'connected_gene': 'PIR37723', 'score': 0.34}, {'connected_gene': 'PIRC52', 'score': 0.29}]
chr11 GH11I075327 75327294 75353678 2.83 [{'connected_gene': 'ARRB1', 'score': 561.78}, {'connected_gene': 'POLD3', 'score': 27.02}, {'connected_gene': 'GDPD5', 'score': 14.11}, {'connected_gene': 'SNORD15B', 'score': 10.76}, {'connected_gene': 'KLHL35', 'score': 10.37}, {'connected_gene': 'XRRA1', 'score': 10.15}, {'connected_gene': 'RNF169', 'score': 9.85}, {'connected_gene': 'NEU3', 'score': 6.23}, {'connected_gene': 'RPS3', 'score': 5.72}, {'connected_gene': 'ENSG00000254974', 'score': 4.77}, {'connected_gene': 'UVRAG', 'score': 3.32}, {'connected_gene': 'SPCS2', 'score': 2.35}, {'connected_gene': 'DGAT2', 'score': 1.66}, {'connected_gene': 'MIR326', 'score': 0.44}, {'connected_gene': 'PIR38786', 'score': 0.39}, {'connected_gene': 'GC11M075328', 'score': 0.39}, {'connected_gene': 'GC11M075327', 'score': 0.39}]
chr11 GH11I075174 75174303 75175799 1.35 [{'connected_gene': 'P4HA3', 'score': 12.73}, {'connected_gene': 'ENSG00000206913', 'score': 10.6}, {'connected_gene': 'POLD3', 'score': 10.51}, {'connected_gene': 'NEU3', 'score': 9.36}, {'connected_gene': 'XRRA1', 'score': 4.87}, {'connected_gene': 'SPCS2', 'score': 2.81}, {'connected_gene': 'ARRB1', 'score': 1.3}, {'connected_gene': 'RNF169', 'score': 1.27}, {'connected_gene': 'ENSG00000255395', 'score': 0.29}, {'connected_gene': 'ZDHHC20P3', 'score': 0.23}, {'connected_gene': 'SLCO2B1', 'score': 0.19}]
chr11 GH11I074956 74956729 74956894 0.55 [{'connected_gene': 'RNF169', 'score': 3.56}, {'connected_gene': 'SPCS2', 'score': 0.44}, {'connected_gene': 'RNU6-216P', 'score': 0.39}, {'connected_gene': 'GC11M074969', 'score': 0.39}]
chr11 GH11I074948 74948141 74954761 2.27 [{'connected_gene': 'XRRA1', 'score': 675.03}, {'connected_gene': 'SPCS2', 'score': 550.77}, {'connected_gene': 'POLD3', 'score': 16.13}, {'connected_gene': 'ENSG00000206913', 'score': 12.27}, {'connected_gene': 'RNF169', 'score': 11.99}, {'connected_gene': 'SNORD15B', 'score': 9.89}, {'connected_gene': 'RN7SL239P', 'score': 9.87}, {'connected_gene': 'RNU6-216P', 'score': 0.37}, {'connected_gene': 'GC11M074969', 'score': 0.37}]
chr11 GH11I074957 74957242 74958429 0.49 [{'connected_gene': 'XRRA1', 'score': 24.92}, {'connected_gene': 'SPCS2', 'score': 0.44}, {'connected_gene': 'RNU6-216P', 'score': 0.39}, {'connected_gene': 'GC11M074969', 'score': 0.39}]
chr11 GH11I075049 75049358 75050954 0.54 [{'connected_gene': 'XRRA1', 'score': 76.66}, {'connected_gene': 'SLCO2B1', 'score': 11.2}, {'connected_gene': 'SPCS2', 'score': 10.29}, {'connected_gene': 'PIR37723', 'score': 0.77}, {'connected_gene': 'OR2AT2P', 'score': 0.34}]
chr11 GH11I075193 75193437 75196561 1.06 [{'connected_gene': 'SLCO2B1', 'score': 13.76}, {'connected_gene': 'NEU3', 'score': 6.28}, {'connected_gene': 'ARRB1', 'score': 1.41}, {'connected_gene': 'SPCS2', 'score': 1.22}, {'connected_gene': 'ZDHHC20P3', 'score': 0.29}, {'connected_gene': 'ENSG00000255395', 'score': 0.23}]
chr11 GH11I075145 75145345 75148199 1.28 [{'connected_gene': 'SLCO2B1', 'score': 15.43}, {'connected_gene': 'ENSG00000255395', 'score': 10.54}, {'connected_gene': 'NEU3', 'score': 9.42}, {'connected_gene': 'TPBGL', 'score': 5.41}, {'connected_gene': 'ARRB1', 'score': 1.8}, {'connected_gene': 'SPCS2', 'score': 1.23}, {'connected_gene': 'ZDHHC20P3', 'score': 0.18}]
chr11 GH11I074988 74988152 74990119 1.98 [{'connected_gene': 'NEU3', 'score': 550.77}, {'connected_gene': 'XRRA1', 'score': 17.46}, {'connected_gene': 'POLD3', 'score': 13.08}, {'connected_gene': 'SPCS2', 'score': 11.58}, {'connected_gene': 'RPS3', 'score': 11.29}, {'connected_gene': 'RNF169', 'score': 10.24}, {'connected_gene': 'ENSG00000206913', 'score': 10.16}, {'connected_gene': 'PIRC52', 'score': 0.77}]
chr11 GH11I074459 74459744 74463846 2.31 [{'connected_gene': 'KCNE3', 'score': 573.21}, {'connected_gene': 'ENSG00000254974', 'score': 6.09}, {'connected_gene': 'RNF169', 'score': 4.75}, {'connected_gene': 'SPCS2', 'score': 2.78}, {'connected_gene': 'C2CD3', 'score': 1.76}, {'connected_gene': 'ENSG00000254928', 'score': 0.44}, {'connected_gene': 'ENSG00000254631', 'score': 0.21}]