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
ENST00000426690 [[33590206, 33590451], [33627903, 33628414], [33629183, 33629502], [33634815, 33635665]] [[33628005, 33628414], [33629183, 33629502], [33634815, 33634816]]
ENST00000487852 [[33590570, 33591397], [33627903, 33628414], [33629183, 33629502], [33634815, 33635917], [33637985, 33638440]] None
ENST00000380099 [[33590570, 33591397], [33627903, 33628414], [33629183, 33629452], [33634815, 33635917], [33637985, 33640282]] [[33590578, 33591397], [33627903, 33628414], [33629183, 33629452], [33634815, 33635917], [33637985, 33638323]]
NM_004795 [[33590570, 33591397], [33627903, 33628414], [33629183, 33629452], [33634815, 33635917], [33637985, 33640282]] [[33590578, 33591397], [33627903, 33628414], [33629183, 33629452], [33634815, 33635917], [33637985, 33638323]]
Promoter
Chrom Start End Description
chr13 33590553 33590570 CAGE_peak_1_at_KL_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I033122 33122181 33129016 1.37 [{'connected_gene': 'KL', 'score': 9.95}, {'connected_gene': 'STARD13', 'score': 4.75}, {'connected_gene': 'STARD13-IT1', 'score': 0.28}]
chr13 GH13I033138 33138077 33141142 0.69 [{'connected_gene': 'KL', 'score': 10.01}, {'connected_gene': 'STARD13', 'score': 9.6}, {'connected_gene': 'STARD13-IT1', 'score': 0.34}]
chr13 GH13I033015 33014977 33018292 1.73 [{'connected_gene': 'KL', 'score': 550.77}, {'connected_gene': 'RFC3', 'score': 13.47}, {'connected_gene': 'N4BP2L2', 'score': 10.9}, {'connected_gene': 'STARD13', 'score': 4.34}, {'connected_gene': 'STARD13-IT1', 'score': 0.11}]
chr13 GH13I033045 33045924 33046073 0.43 [{'connected_gene': 'KL', 'score': 11.7}, {'connected_gene': 'PDS5B', 'score': 9.78}, {'connected_gene': 'STARD13-IT1', 'score': 0.13}]
chr13 GH13I032791 32791323 32792432 0.67 [{'connected_gene': 'KL', 'score': 10.22}, {'connected_gene': 'PDS5B', 'score': 9.9}, {'connected_gene': 'ENSG00000212293', 'score': 5.74}, {'connected_gene': 'ENSG00000277151', 'score': 0.44}, {'connected_gene': 'LINC00423', 'score': 0.13}]
chr13 GH13I032837 32837820 32840280 1.11 [{'connected_gene': 'KL', 'score': 10.35}, {'connected_gene': 'PDS5B', 'score': 9.31}, {'connected_gene': 'ENSG00000277151', 'score': 0.22}, {'connected_gene': 'LINC00423', 'score': 0.19}]
chr13 GH13I032590 32590401 32590600 0.38 [{'connected_gene': 'KL', 'score': 9.89}, {'connected_gene': 'PDS5B', 'score': 0.77}, {'connected_gene': 'GC13M032670', 'score': 0.18}]
chr13 GH13I032984 32984983 32985132 0.7 [{'connected_gene': 'KL', 'score': 0.29}, {'connected_gene': 'TOMM22P3', 'score': 0.29}]
chr13 GH13I033003 33003741 33005132 0.72 [{'connected_gene': 'KL', 'score': 0.39}, {'connected_gene': 'TOMM22P3', 'score': 0.25}]
chr13 GH13I033014 33014427 33014532 0.43 [{'connected_gene': 'KL', 'score': 550.77}, {'connected_gene': 'TOMM22P3', 'score': 0.21}]
chr13 GH13I033008 33008471 33009620 0.2 [{'connected_gene': 'KL', 'score': 0.44}, {'connected_gene': 'TOMM22P3', 'score': 0.23}]
chr13 GH13I032968 32968626 32970762 0.74 [{'connected_gene': 'KL', 'score': 10.9}, {'connected_gene': 'TOMM22P3', 'score': 0.37}]
chr13 GH13I032988 32988724 32989747 0.63 [{'connected_gene': 'KL', 'score': 12.13}, {'connected_gene': 'TOMM22P3', 'score': 0.29}]
chr13 GH13I032998 32998706 32999377 0.2 [{'connected_gene': 'KL', 'score': 0.37}, {'connected_gene': 'TOMM22P3', 'score': 0.26}]
chr13 GH13I033131 33131390 33135595 0.63 [{'connected_gene': 'KL', 'score': 10.06}, {'connected_gene': 'STARD13-IT1', 'score': 0.29}, {'connected_gene': 'STARD13', 'score': 0.03}]
chr13 GH13I033104 33104944 33114370 1.18 [{'connected_gene': 'KL', 'score': 15.32}, {'connected_gene': 'STARD13-IT1', 'score': 0.23}, {'connected_gene': 'STARD13', 'score': 0.03}]
chr13 GH13I033053 33052012 33052433 0.6 [{'connected_gene': 'KL', 'score': 0.28}, {'connected_gene': 'STARD13-IT1', 'score': 0.14}]
chr13 GH13I033076 33075396 33077414 0.2 [{'connected_gene': 'KL', 'score': 10.97}, {'connected_gene': 'STARD13-IT1', 'score': 0.17}]
chr13 GH13I033075 33075204 33075353 0.31 [{'connected_gene': 'KL', 'score': 10.98}, {'connected_gene': 'STARD13-IT1', 'score': 0.17}]
chr13 GH13I033087 33087944 33088093 0.2 [{'connected_gene': 'KL', 'score': 0.19}, {'connected_gene': 'STARD13-IT1', 'score': 0.18}]
chr13 GH13I033056 33056822 33058120 0.49 [{'connected_gene': 'KL', 'score': 6.06}, {'connected_gene': 'STARD13-IT1', 'score': 0.14}]
chr13 GH13I033081 33081201 33081400 0.62 [{'connected_gene': 'KL', 'score': 11.21}, {'connected_gene': 'STARD13-IT1', 'score': 0.18}]
chr13 GH13I033052 33052826 33054004 0.52 [{'connected_gene': 'KL', 'score': 6.56}, {'connected_gene': 'STARD13-IT1', 'score': 0.14}]
chr13 GH13I033268 33268469 33269665 0.4 [{'connected_gene': 'KL', 'score': 9.71}, {'connected_gene': 'STARD13-AS', 'score': 9.54}, {'connected_gene': 'LINC02344', 'score': 0.2}, {'connected_gene': 'STARD13', 'score': 0.05}]
chr13 GH13I032824 32824050 32825973 0.74 [{'connected_gene': 'KL', 'score': 10.6}, {'connected_gene': 'ENSG00000277151', 'score': 0.26}, {'connected_gene': 'LINC00423', 'score': 0.17}]
chr13 GH13I032828 32828679 32830949 0.66 [{'connected_gene': 'KL', 'score': 10.6}, {'connected_gene': 'ENSG00000277151', 'score': 0.25}, {'connected_gene': 'LINC00423', 'score': 0.18}]
chr13 GH13I032811 32811401 32811600 0.99 [{'connected_gene': 'KL', 'score': 10.11}, {'connected_gene': 'ENSG00000277151', 'score': 0.31}, {'connected_gene': 'LINC00423', 'score': 0.15}]
chr13 GH13I032880 32880606 32881945 0.56 [{'connected_gene': 'KL', 'score': 10.59}, {'connected_gene': 'LINC00423', 'score': 0.29}, {'connected_gene': 'ENSG00000277151', 'score': 0.15}]
chr13 GH13I032939 32939923 32941148 0.31 [{'connected_gene': 'KL', 'score': 11.37}, {'connected_gene': 'GC13P032949', 'score': 0.44}, {'connected_gene': 'LINC00423', 'score': 0.31}]
chr13 GH13I032745 32745504 32747475 0.49 [{'connected_gene': 'KL', 'score': 9.96}, {'connected_gene': 'ENSG00000212293', 'score': 5.94}, {'connected_gene': 'RNY1P4', 'score': 0.37}, {'connected_gene': 'GC13M032764', 'score': 0.37}, {'connected_gene': 'GC13P032716', 'score': 0.29}, {'connected_gene': 'PDS5B', 'score': 0.1}]
chr13 GH13I032731 32731601 32731800 0.49 [{'connected_gene': 'KL', 'score': 10.78}, {'connected_gene': 'ENSG00000212293', 'score': 6.0}, {'connected_gene': 'GC13P032716', 'score': 0.37}, {'connected_gene': 'RNY1P4', 'score': 0.29}, {'connected_gene': 'GC13M032764', 'score': 0.29}, {'connected_gene': 'PDS5B', 'score': 0.11}]
chr13 GH13I033227 33225795 33226163 0.4 [{'connected_gene': 'STARD13', 'score': 11.27}, {'connected_gene': 'KL', 'score': 9.92}, {'connected_gene': 'STARD13-AS', 'score': 0.25}, {'connected_gene': 'LINC02344', 'score': 0.14}]
chr13 GH13I033212 33212003 33215782 1.2 [{'connected_gene': 'STARD13', 'score': 16.25}, {'connected_gene': 'KL', 'score': 9.45}, {'connected_gene': 'STARD13-AS', 'score': 0.29}, {'connected_gene': 'LINC02344', 'score': 0.13}]
chr13 GH13I033181 33181936 33200689 2.07 [{'connected_gene': 'STARD13', 'score': 570.23}, {'connected_gene': 'KL', 'score': 10.83}, {'connected_gene': 'STARD13-AS', 'score': 0.39}, {'connected_gene': 'LINC02344', 'score': 0.11}]
chr13 GH13I033540 33540182 33545399 1.84 [{'connected_gene': 'STARD13', 'score': 10.13}, {'connected_gene': 'KL', 'score': 9.55}, {'connected_gene': 'GC13P033546', 'score': 0.77}, {'connected_gene': 'PIR50454', 'score': 0.77}, {'connected_gene': 'ENSG00000230490', 'score': 0.12}, {'connected_gene': 'ENSG00000277386', 'score': 0.08}]
chr13 GH13I033347 33347920 33354346 1.91 [{'connected_gene': 'STARD13', 'score': 10.86}, {'connected_gene': 'KL', 'score': 10.36}, {'connected_gene': 'ENSG00000230490', 'score': 8.32}, {'connected_gene': 'ENSG00000277386', 'score': 0.39}, {'connected_gene': 'GC13P033546', 'score': 0.08}, {'connected_gene': 'PIR50454', 'score': 0.08}]
chr13 GH13I033270 33270274 33286886 2.6 [{'connected_gene': 'STARD13', 'score': 555.36}, {'connected_gene': 'N4BP2L2', 'score': 31.7}, {'connected_gene': 'STARD13-AS', 'score': 12.72}, {'connected_gene': 'RFC3', 'score': 10.81}, {'connected_gene': 'KL', 'score': 9.71}, {'connected_gene': 'LINC02344', 'score': 0.22}]
chr13 GH13I033225 33225092 33225701 0.2 [{'connected_gene': 'STARD13', 'score': 15.68}, {'connected_gene': 'STARD13-AS', 'score': 10.33}, {'connected_gene': 'KL', 'score': 9.92}, {'connected_gene': 'PDS5B', 'score': 9.24}, {'connected_gene': 'LINC02344', 'score': 0.14}]
chr13 GH13I033243 33243584 33246404 0.51 [{'connected_gene': 'STARD13', 'score': 17.49}, {'connected_gene': 'STARD13-AS', 'score': 11.27}, {'connected_gene': 'KL', 'score': 9.33}, {'connected_gene': 'LINC02344', 'score': 0.16}]
chr13 GH13I033226 33226689 33232238 1.26 [{'connected_gene': 'STARD13', 'score': 17.48}, {'connected_gene': 'STARD13-AS', 'score': 11.5}, {'connected_gene': 'KL', 'score': 9.92}, {'connected_gene': 'LINC02344', 'score': 0.14}]
chr13 GH13I033202 33202015 33209711 2.34 [{'connected_gene': 'STARD13', 'score': 570.02}, {'connected_gene': 'STARD13-AS', 'score': 11.2}, {'connected_gene': 'KL', 'score': 10.15}, {'connected_gene': 'LINC02344', 'score': 0.13}]
chr13 GH13I032585 32585562 32590025 1.98 [{'connected_gene': 'PDS5B', 'score': 550.77}, {'connected_gene': 'KL', 'score': 9.89}, {'connected_gene': 'ENSG00000212293', 'score': 9.74}, {'connected_gene': 'N4BP2L2', 'score': 5.97}, {'connected_gene': 'GC13M032670', 'score': 0.18}]
chr13 GH13I033032 33032801 33034000 0.8 [{'connected_gene': 'PDS5B', 'score': 9.87}, {'connected_gene': 'KL', 'score': 8.3}, {'connected_gene': 'STARD13-IT1', 'score': 0.12}]
chr13 GH13I033034 33034601 33035600 0.31 [{'connected_gene': 'PDS5B', 'score': 8.75}, {'connected_gene': 'KL', 'score': 0.37}, {'connected_gene': 'STARD13-IT1', 'score': 0.13}]
chr13 GH13I032626 32626001 32626200 0.2 [{'connected_gene': 'PDS5B', 'score': 11.38}, {'connected_gene': 'KL', 'score': 9.61}, {'connected_gene': 'GC13M032670', 'score': 0.26}]
chr13 GH13I032625 32625601 32625800 0.2 [{'connected_gene': 'PDS5B', 'score': 11.38}, {'connected_gene': 'KL', 'score': 9.61}, {'connected_gene': 'GC13M032670', 'score': 0.26}]
chr13 GH13I032650 32650844 32651013 0.72 [{'connected_gene': 'PDS5B', 'score': 11.89}, {'connected_gene': 'KL', 'score': 10.36}, {'connected_gene': 'GC13M032670', 'score': 0.37}]
chr13 GH13I032952 32952577 32952923 0.22 [{'connected_gene': 'TOMM22P3', 'score': 550.77}, {'connected_gene': 'KL', 'score': 10.88}, {'connected_gene': 'GC13P032949', 'score': 0.77}]
chr13 GH13I033119 33119152 33121089 1.11 [{'connected_gene': 'STARD13-IT1', 'score': 0.26}, {'connected_gene': 'KL', 'score': 0.15}, {'connected_gene': 'STARD13', 'score': 0.03}]
chr13 GH13I033117 33116664 33116795 0.63 [{'connected_gene': 'STARD13-IT1', 'score': 0.25}, {'connected_gene': 'KL', 'score': 0.15}, {'connected_gene': 'STARD13', 'score': 0.03}]
chr13 GH13I033116 33116444 33116613 0.67 [{'connected_gene': 'STARD13-IT1', 'score': 0.25}, {'connected_gene': 'KL', 'score': 0.15}, {'connected_gene': 'STARD13', 'score': 0.03}]
chr13 GH13I033151 33150204 33150353 0.66 [{'connected_gene': 'STARD13-IT1', 'score': 0.39}, {'connected_gene': 'KL', 'score': 0.12}, {'connected_gene': 'STARD13', 'score': 0.03}]
chr13 GH13I033157 33157417 33160513 0.2 [{'connected_gene': 'STARD13-IT1', 'score': 6.16}, {'connected_gene': 'KL', 'score': 0.11}, {'connected_gene': 'STARD13', 'score': 0.03}]
chr13 GH13I033163 33163805 33165857 0.31 [{'connected_gene': 'STARD13-IT1', 'score': 555.27}, {'connected_gene': 'KL', 'score': 10.38}, {'connected_gene': 'STARD13-AS', 'score': 0.37}, {'connected_gene': 'STARD13', 'score': 0.03}]
chr13 GH13I033090 33090388 33093282 0.72 [{'connected_gene': 'STARD13-IT1', 'score': 0.19}, {'connected_gene': 'KL', 'score': 0.18}]
chr13 GH13I033101 33101944 33102093 0.7 [{'connected_gene': 'STARD13-IT1', 'score': 0.21}, {'connected_gene': 'KL', 'score': 0.17}]
chr13 GH13I033150 33150525 33155418 1.37 [{'connected_gene': 'STARD13-IT1', 'score': 5.67}, {'connected_gene': 'STARD13', 'score': 4.6}, {'connected_gene': 'KL', 'score': 0.12}]
chr13 GH13I033247 33247715 33254554 1.08 [{'connected_gene': 'STARD13-AS', 'score': 16.93}, {'connected_gene': 'STARD13', 'score': 16.42}, {'connected_gene': 'KL', 'score': 9.29}, {'connected_gene': 'LINC02344', 'score': 0.18}]
chr13 GH13I033255 33255637 33268216 1.37 [{'connected_gene': 'STARD13-AS', 'score': 23.06}, {'connected_gene': 'STARD13', 'score': 17.58}, {'connected_gene': 'KL', 'score': 9.71}, {'connected_gene': 'LINC02344', 'score': 0.19}]

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