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
ENST00000394729 [[53195135, 53195444], [53212419, 53212553], [53213592, 53213792], [53215222, 53215283], [53215459, 53215622], [53215716, 53215748], [53217136, 53217222], [53217467, 53217597], [53218889, 53218990], [53219619, 53219716], [53219942, 53220043], [53220182, 53220356], [53220619, 53220711], [53221355, 53221418], [53222735, 53222874], [53223073, 53223262], [53223888, 53224017], [53226123, 53226733]] [[53212438, 53212553], [53213592, 53213792], [53215222, 53215283], [53215459, 53215622], [53215716, 53215748], [53217136, 53217222], [53217467, 53217597], [53218889, 53218990], [53219619, 53219716], [53219942, 53220043], [53220182, 53220356], [53220619, 53220711], [53221355, 53221418], [53222735, 53222874], [53223073, 53223262], [53223888, 53224017], [53226123, 53226282]]
ENST00000330452 [[53195214, 53195444], [53199119, 53199231], [53212419, 53212553], [53213592, 53213792], [53215222, 53215283], [53215459, 53215622], [53215716, 53215748], [53217136, 53217222], [53217467, 53217597], [53218889, 53218990], [53219619, 53219716], [53219942, 53220043], [53220182, 53220356], [53220619, 53220711], [53221355, 53221418], [53222735, 53222874], [53223073, 53223262], [53223888, 53224017], [53226123, 53226570]] [[53212438, 53212553], [53213592, 53213792], [53215222, 53215283], [53215459, 53215622], [53215716, 53215748], [53217136, 53217222], [53217467, 53217597], [53218889, 53218990], [53219619, 53219716], [53219942, 53220043], [53220182, 53220356], [53220619, 53220711], [53221355, 53221418], [53222735, 53222874], [53223073, 53223262], [53223888, 53224017], [53226123, 53226282]]
ENST00000487897 [[53195536, 53195591], [53199119, 53199231], [53212419, 53212553], [53213592, 53213792], [53215222, 53215283]] [[53212438, 53212553], [53213592, 53213792], [53215222, 53215283]]
ENST00000464818 [[53199144, 53199231], [53212419, 53212553], [53213592, 53213792], [53215222, 53215283], [53215459, 53215622], [53215716, 53215748], [53218889, 53218989]] [[53212438, 53212553], [53213592, 53213792], [53215222, 53215283], [53215459, 53215622], [53215716, 53215748], [53218889, 53218989]]
ENST00000478843 [[53190024, 53190215], [53190354, 53190500], [53212419, 53212553], [53213592, 53213710]] [[53212438, 53212553], [53213592, 53213710]]
ENST00000477794 [[53195256, 53195444], [53207542, 53207624], [53212419, 53212553]] None
NM_212539 [[53195222, 53195444], [53212419, 53212553], [53213592, 53213792], [53215222, 53215283], [53215459, 53215622], [53215716, 53215748], [53217136, 53217222], [53217467, 53217597], [53218889, 53218990], [53219619, 53219716], [53219942, 53220043], [53220182, 53220356], [53220619, 53220711], [53221355, 53221418], [53222735, 53222874], [53223073, 53223262], [53223888, 53224017], [53226123, 53226733]] [[53212438, 53212553], [53213592, 53213792], [53215222, 53215283], [53215459, 53215622], [53215716, 53215748], [53217136, 53217222], [53217467, 53217597], [53218889, 53218990], [53219619, 53219716], [53219942, 53220043], [53220182, 53220356], [53220619, 53220711], [53221355, 53221418], [53222735, 53222874], [53223073, 53223262], [53223888, 53224017], [53226123, 53226282]]
NM_006254 [[53195222, 53195444], [53199119, 53199231], [53212419, 53212553], [53213592, 53213792], [53215222, 53215283], [53215459, 53215622], [53215716, 53215748], [53217136, 53217222], [53217467, 53217597], [53218889, 53218990], [53219619, 53219716], [53219942, 53220043], [53220182, 53220356], [53220619, 53220711], [53221355, 53221418], [53222735, 53222874], [53223073, 53223262], [53223888, 53224017], [53226123, 53226733]] [[53212438, 53212553], [53213592, 53213792], [53215222, 53215283], [53215459, 53215622], [53215716, 53215748], [53217136, 53217222], [53217467, 53217597], [53218889, 53218990], [53219619, 53219716], [53219942, 53220043], [53220182, 53220356], [53220619, 53220711], [53221355, 53221418], [53222735, 53222874], [53223073, 53223262], [53223888, 53224017], [53226123, 53226282]]
NM_001316327 [[53195536, 53195591], [53199119, 53199231], [53212419, 53212553], [53213592, 53213792], [53215222, 53215283], [53215459, 53215622], [53215716, 53215748], [53217136, 53217222], [53217467, 53217597], [53218889, 53218990], [53219619, 53219716], [53219942, 53220043], [53220182, 53220356], [53220619, 53220711], [53221355, 53221418], [53222735, 53222874], [53223073, 53223262], [53223888, 53224017], [53226123, 53226733]] [[53212438, 53212553], [53213592, 53213792], [53215222, 53215283], [53215459, 53215622], [53215716, 53215748], [53217136, 53217222], [53217467, 53217597], [53218889, 53218990], [53219619, 53219716], [53219942, 53220043], [53220182, 53220356], [53220619, 53220711], [53221355, 53221418], [53222735, 53222874], [53223073, 53223262], [53223888, 53224017], [53226123, 53226282]]
Promoter
Chrom Start End Description
chr3 53195216 53195240 CAGE_peak_1_at_PRKCD_5end
chr3 53195258 53195279 CAGE_peak_2_at_PRKCD_5end
chr3 53195517 53195584 CAGE_peak_3_at_PRKCD_5end
chr3 53215063 53215090 CAGE_peak_12_at_PRKCD_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I053195 53195653 53197472 1.37 [{'connected_gene': 'RFT1', 'score': 24.68}, {'connected_gene': 'PRKCD', 'score': 20.67}, {'connected_gene': 'PBRM1', 'score': 9.81}, {'connected_gene': 'SNORD38C', 'score': 9.76}, {'connected_gene': 'TKT', 'score': 5.88}, {'connected_gene': 'DCP1A', 'score': 4.27}, {'connected_gene': 'ITIH4', 'score': 4.07}]
chr3 GH03I053132 53132806 53134051 0.43 [{'connected_gene': 'RFT1', 'score': 15.95}, {'connected_gene': 'PRKCD', 'score': 12.32}, {'connected_gene': 'ITIH4', 'score': 4.08}, {'connected_gene': 'PIR59540', 'score': 0.39}]
chr3 GH03I053123 53123401 53123600 0.51 [{'connected_gene': 'RFT1', 'score': 16.29}, {'connected_gene': 'PRKCD', 'score': 11.07}, {'connected_gene': 'ITIH3', 'score': 4.19}, {'connected_gene': 'ENSG00000272305', 'score': 0.34}]
chr3 GH03I053108 53108929 53110934 0.83 [{'connected_gene': 'RFT1', 'score': 16.6}, {'connected_gene': 'PRKCD', 'score': 10.9}, {'connected_gene': 'ENSG00000243696', 'score': 10.9}, {'connected_gene': 'ITIH3', 'score': 4.46}, {'connected_gene': 'ENSG00000272305', 'score': 0.39}]
chr3 GH03I053191 53191446 53192556 0.31 [{'connected_gene': 'RFT1', 'score': 12.1}, {'connected_gene': 'PRKCD', 'score': 11.83}, {'connected_gene': 'SNORD38C', 'score': 9.88}, {'connected_gene': 'STIMATE', 'score': 9.81}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 9.81}, {'connected_gene': 'ENSG00000243696', 'score': 9.68}, {'connected_gene': 'MUSTN1', 'score': 9.68}, {'connected_gene': 'TKT', 'score': 0.21}]
chr3 GH03I053151 53151324 53153445 0.49 [{'connected_gene': 'RFT1', 'score': 12.03}, {'connected_gene': 'PRKCD', 'score': 7.46}, {'connected_gene': 'PIR59540', 'score': 0.44}]
chr3 GH03I053227 53227362 53233773 0.46 [{'connected_gene': 'RFT1', 'score': 11.43}, {'connected_gene': 'SNORD38C', 'score': 10.13}, {'connected_gene': 'TKT', 'score': 7.13}, {'connected_gene': 'PRKCD', 'score': 5.36}, {'connected_gene': 'DCP1A', 'score': 5.1}, {'connected_gene': 'ITIH4', 'score': 4.14}]
chr3 GH03I053495 53495026 53496473 1.19 [{'connected_gene': 'CACNA1D', 'score': 550.1}, {'connected_gene': 'PRKCD', 'score': 5.08}, {'connected_gene': 'RPS25P4', 'score': 0.34}, {'connected_gene': 'GC03P053524', 'score': 0.31}]
chr3 GH03I053217 53217453 53218895 0.38 [{'connected_gene': 'TKT', 'score': 7.07}, {'connected_gene': 'DCP1A', 'score': 5.23}, {'connected_gene': 'PRKCD', 'score': 0.21}]
chr3 GH03I053248 53248930 53256572 2.49 [{'connected_gene': 'TKT', 'score': 560.47}, {'connected_gene': 'PRKCD', 'score': 13.4}, {'connected_gene': 'DCP1A', 'score': 3.73}]
chr3 GH03I053212 53212601 53213000 0.4 [{'connected_gene': 'TKT', 'score': 0.26}, {'connected_gene': 'PRKCD', 'score': 0.22}]
chr3 GH03I053219 53219985 53220401 1.02 [{'connected_gene': 'TKT', 'score': 6.66}, {'connected_gene': 'PRKCD', 'score': 0.21}]
chr3 GH03I053140 53140402 53141800 1.43 [{'connected_gene': 'GLT8D1', 'score': 24.09}, {'connected_gene': 'RFT1', 'score': 22.26}, {'connected_gene': 'NISCH', 'score': 19.52}, {'connected_gene': 'PRKCD', 'score': 14.47}, {'connected_gene': 'ACTR8', 'score': 11.38}, {'connected_gene': 'NEK4', 'score': 11.24}, {'connected_gene': 'STIMATE', 'score': 8.07}, {'connected_gene': 'ITIH4', 'score': 7.34}, {'connected_gene': 'DCP1A', 'score': 6.17}, {'connected_gene': 'ITIH3', 'score': 4.87}, {'connected_gene': 'PBRM1', 'score': 1.98}, {'connected_gene': 'TKT', 'score': 1.23}, {'connected_gene': 'PIR59540', 'score': 0.77}]
chr3 GH03I053221 53221972 53222831 0.8 [{'connected_gene': 'DCP1A', 'score': 4.98}, {'connected_gene': 'TKT', 'score': 0.29}, {'connected_gene': 'PRKCD', 'score': 0.2}]
chr3 GH03I053477 53477526 53480835 1.11 [{'connected_gene': 'DCP1A', 'score': 5.08}, {'connected_gene': 'PRKCD', 'score': 4.63}, {'connected_gene': 'RPS25P4', 'score': 0.77}, {'connected_gene': 'GC03P053524', 'score': 0.25}, {'connected_gene': 'CACNA1D', 'score': 0.1}]
chr3 GH03I053345 53345960 53348690 2.35 [{'connected_gene': 'DCP1A', 'score': 561.19}, {'connected_gene': 'NISCH', 'score': 37.22}, {'connected_gene': 'PBRM1', 'score': 23.95}, {'connected_gene': 'ENSG00000271976', 'score': 20.08}, {'connected_gene': 'RFT1', 'score': 13.15}, {'connected_gene': 'PHF7', 'score': 11.26}, {'connected_gene': 'ENSG00000212608', 'score': 11.08}, {'connected_gene': 'PRKCD', 'score': 10.97}, {'connected_gene': 'NEK4', 'score': 10.4}, {'connected_gene': 'ACTR8', 'score': 10.35}, {'connected_gene': 'GNL3', 'score': 10.14}, {'connected_gene': 'NT5DC2', 'score': 9.91}, {'connected_gene': 'TKT', 'score': 5.96}, {'connected_gene': 'STIMATE', 'score': 2.31}, {'connected_gene': 'SNORD38C', 'score': 0.39}, {'connected_gene': 'CACNA1D', 'score': 0.37}, {'connected_gene': 'GC03P053298', 'score': 0.25}]
chr3 GH03I053186 53186031 53187272 0.31 [{'connected_gene': 'PRKCD', 'score': 16.75}, {'connected_gene': 'RFT1', 'score': 11.74}, {'connected_gene': 'TKT', 'score': 0.2}]
chr3 GH03I053184 53184639 53185740 0.38 [{'connected_gene': 'PRKCD', 'score': 11.85}, {'connected_gene': 'RFT1', 'score': 11.75}, {'connected_gene': 'TKT', 'score': 0.19}]
chr3 GH03I053155 53155695 53164377 2.22 [{'connected_gene': 'PRKCD', 'score': 563.78}, {'connected_gene': 'RFT1', 'score': 11.77}, {'connected_gene': 'SERBP1P3', 'score': 4.69}, {'connected_gene': 'GNL3', 'score': 4.15}, {'connected_gene': 'TKT', 'score': 0.15}]
chr3 GH03I053190 53190428 53190988 0.43 [{'connected_gene': 'PRKCD', 'score': 11.85}, {'connected_gene': 'RFT1', 'score': 11.78}, {'connected_gene': 'STIMATE', 'score': 9.01}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 9.01}, {'connected_gene': 'MUSTN1', 'score': 9.0}, {'connected_gene': 'ENSG00000243696', 'score': 9.0}, {'connected_gene': 'TKT', 'score': 0.2}]
chr3 GH03I053187 53187669 53190095 0.66 [{'connected_gene': 'PRKCD', 'score': 19.27}, {'connected_gene': 'RFT1', 'score': 11.79}, {'connected_gene': 'STIMATE', 'score': 9.01}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 9.01}, {'connected_gene': 'ENSG00000243696', 'score': 9.0}, {'connected_gene': 'MUSTN1', 'score': 9.0}, {'connected_gene': 'TKT', 'score': 0.2}]
chr3 GH03I053192 53192663 53194800 0.89 [{'connected_gene': 'PRKCD', 'score': 19.76}, {'connected_gene': 'RFT1', 'score': 12.1}, {'connected_gene': 'SNORD38C', 'score': 9.76}, {'connected_gene': 'ITIH4', 'score': 4.27}, {'connected_gene': 'PPM1M', 'score': 4.0}, {'connected_gene': 'TKT', 'score': 0.21}]
chr3 GH03I053134 53134601 53135001 1.15 [{'connected_gene': 'PRKCD', 'score': 12.32}, {'connected_gene': 'RFT1', 'score': 0.77}, {'connected_gene': 'PIR59540', 'score': 0.44}]
chr3 GH03I053173 53173060 53173499 0.2 [{'connected_gene': 'PRKCD', 'score': 12.82}, {'connected_gene': 'TKT', 'score': 0.18}]
chr3 GH03I053174 53173641 53176758 0.59 [{'connected_gene': 'PRKCD', 'score': 5.86}, {'connected_gene': 'TKT', 'score': 0.18}]
chr3 GH03I053180 53180093 53181553 1.12 [{'connected_gene': 'PRKCD', 'score': 11.4}, {'connected_gene': 'TKT', 'score': 0.18}]
chr3 GH03I053247 53247490 53248751 0.52 [{'connected_gene': 'PRKCD', 'score': 5.29}, {'connected_gene': 'DCP1A', 'score': 4.78}, {'connected_gene': 'TKT', 'score': 4.77}, {'connected_gene': 'GNL3', 'score': 4.03}]
chr3 GH03I053102 53102581 53103137 1.14 [{'connected_gene': 'PRKCD', 'score': 16.77}, {'connected_gene': 'STIMATE', 'score': 12.59}, {'connected_gene': 'RFT1', 'score': 11.9}, {'connected_gene': 'ENSG00000243696', 'score': 10.61}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 9.9}, {'connected_gene': 'MUSTN1', 'score': 9.89}, {'connected_gene': 'DCP1A', 'score': 4.25}, {'connected_gene': 'PBRM1', 'score': 2.72}, {'connected_gene': 'ENSG00000272305', 'score': 0.77}]
chr3 GH03I053165 53165269 53172654 1.36 [{'connected_gene': 'PRKCD', 'score': 21.13}, {'connected_gene': 'STIMATE', 'score': 5.73}, {'connected_gene': 'GLT8D1', 'score': 4.48}, {'connected_gene': 'TKT', 'score': 4.29}, {'connected_gene': 'GNL3', 'score': 4.13}, {'connected_gene': 'DCP1A', 'score': 3.57}, {'connected_gene': 'PBRM1', 'score': 2.75}]
chr3 GH03I053764 53764195 53765206 0.31 [{'connected_gene': 'PRKCD', 'score': 7.14}, {'connected_gene': 'ITIH3', 'score': 4.18}, {'connected_gene': 'GC03P053782', 'score': 0.37}, {'connected_gene': 'PIR47826', 'score': 0.18}, {'connected_gene': 'CACNA1D', 'score': 0.05}]
chr3 GH03I053233 53233941 53244847 1.64 [{'connected_gene': 'PRKCD', 'score': 23.47}, {'connected_gene': 'SNORD38C', 'score': 11.33}, {'connected_gene': 'TKT', 'score': 8.84}, {'connected_gene': 'DCP1A', 'score': 7.03}, {'connected_gene': 'ITIH4', 'score': 5.89}, {'connected_gene': 'GNL3', 'score': 4.76}, {'connected_gene': 'STIMATE', 'score': 1.37}]
chr3 GH03I053268 53268602 53272151 1.75 [{'connected_gene': 'PRKCD', 'score': 12.82}, {'connected_gene': 'SNORD38C', 'score': 11.24}, {'connected_gene': 'TKT', 'score': 8.66}, {'connected_gene': 'SFMBT1', 'score': 4.75}, {'connected_gene': 'DCP1A', 'score': 3.4}, {'connected_gene': 'PIR47365', 'score': 0.39}, {'connected_gene': 'GC03M053284', 'score': 0.39}]
chr3 GH03I052668 52668832 52672482 1.43 [{'connected_gene': 'PBRM1', 'score': 29.04}, {'connected_gene': 'SNORD69', 'score': 11.61}, {'connected_gene': 'NT5DC2', 'score': 10.63}, {'connected_gene': 'ITIH4', 'score': 5.49}, {'connected_gene': 'ITIH1', 'score': 5.35}, {'connected_gene': 'GLYCTK', 'score': 3.16}, {'connected_gene': 'PRKCD', 'score': 2.78}, {'connected_gene': 'STIMATE', 'score': 1.53}, {'connected_gene': 'WDR82', 'score': 1.37}, {'connected_gene': 'GNL3', 'score': 0.39}, {'connected_gene': 'RNU6ATAC16P', 'score': 0.14}]
chr3 GH03I053043 53043333 53047245 1.93 [{'connected_gene': 'SFMBT1', 'score': 566.92}, {'connected_gene': 'GC03P053048', 'score': 550.77}, {'connected_gene': 'ITIH4', 'score': 32.22}, {'connected_gene': 'RFT1', 'score': 26.35}, {'connected_gene': 'PBRM1', 'score': 17.35}, {'connected_gene': 'STIMATE', 'score': 10.55}, {'connected_gene': 'SNORD19B', 'score': 10.07}, {'connected_gene': 'PRKCD', 'score': 10.05}, {'connected_gene': 'ITIH3', 'score': 4.2}, {'connected_gene': 'LOC105377135', 'score': 0.25}, {'connected_gene': 'ENSG00000272305', 'score': 0.23}]
chr3 GH03I053103 53103903 53105173 0.2 [{'connected_gene': 'ITIH4', 'score': 13.78}, {'connected_gene': 'RFT1', 'score': 11.9}, {'connected_gene': 'PRKCD', 'score': 10.88}, {'connected_gene': 'ENSG00000243696', 'score': 10.61}, {'connected_gene': 'STIMATE', 'score': 9.9}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 9.9}, {'connected_gene': 'MUSTN1', 'score': 9.89}, {'connected_gene': 'ENSG00000272305', 'score': 0.44}]
chr3 GH03I053112 53112730 53115174 1.03 [{'connected_gene': 'ITIH4', 'score': 17.26}, {'connected_gene': 'RFT1', 'score': 16.42}, {'connected_gene': 'PRKCD', 'score': 10.92}, {'connected_gene': 'ENSG00000243696', 'score': 10.9}, {'connected_gene': 'ITIH3', 'score': 4.72}, {'connected_gene': 'ENSG00000272305', 'score': 0.39}]
chr3 GH03I052915 52915001 52915800 0.8 [{'connected_gene': 'ITIH4', 'score': 22.35}, {'connected_gene': 'ENSG00000243696', 'score': 10.6}, {'connected_gene': 'MUSTN1', 'score': 10.12}, {'connected_gene': 'PRKCD', 'score': 3.06}, {'connected_gene': 'DCP1A', 'score': 1.7}, {'connected_gene': 'STIMATE', 'score': 0.37}, {'connected_gene': 'LOC105377135', 'score': 0.18}, {'connected_gene': 'SFMBT1', 'score': 0.12}]
chr3 GH03I052890 52890491 52894757 1.36 [{'connected_gene': 'ITIH4', 'score': 44.87}, {'connected_gene': 'ENSG00000243696', 'score': 11.17}, {'connected_gene': 'ITIH4-AS1', 'score': 11.15}, {'connected_gene': 'PBRM1', 'score': 10.72}, {'connected_gene': 'MUSTN1', 'score': 10.68}, {'connected_gene': 'SNORD69', 'score': 9.64}, {'connected_gene': 'ENSG00000222345', 'score': 9.64}, {'connected_gene': 'SNORD19B', 'score': 9.64}, {'connected_gene': 'SNORD19', 'score': 9.64}, {'connected_gene': 'ENSG00000252787', 'score': 9.64}, {'connected_gene': 'GNL3', 'score': 9.64}, {'connected_gene': 'STIMATE', 'score': 5.64}, {'connected_gene': 'DCP1A', 'score': 5.23}, {'connected_gene': 'PRKCD', 'score': 4.12}, {'connected_gene': 'SFMBT1', 'score': 1.71}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 0.77}, {'connected_gene': 'ENSG00000279144', 'score': 0.26}]
chr3 GH03I053149 53149611 53151115 1.09 [{'connected_gene': 'SNORD38C', 'score': 9.06}, {'connected_gene': 'PIR59540', 'score': 0.44}, {'connected_gene': 'PRKCD', 'score': 0.44}]
chr3 GH03I053144 53144751 53148000 1.11 [{'connected_gene': 'SNORD38C', 'score': 9.58}, {'connected_gene': 'STIMATE', 'score': 9.24}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 9.24}, {'connected_gene': 'ENSG00000243696', 'score': 9.23}, {'connected_gene': 'MUSTN1', 'score': 9.23}, {'connected_gene': 'PRKCD', 'score': 9.18}, {'connected_gene': 'PIR59540', 'score': 0.77}]
chr3 GH03I053423 53423098 53423783 0.54 [{'connected_gene': 'ENSG00000212608', 'score': 11.79}, {'connected_gene': 'PRKCD', 'score': 4.69}, {'connected_gene': 'DCP1A', 'score': 4.45}, {'connected_gene': 'GC03M053387', 'score': 0.28}, {'connected_gene': 'GC03P053472', 'score': 0.25}, {'connected_gene': 'CACNA1D', 'score': 0.16}]

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