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
ENST00000309415 [[109745996, 109746569], [109964129, 109964405], [109988041, 109988137], [110015045, 110015399], [110035994, 110036098], [110048956, 110049127], [110053348, 110053602], [110065625, 110065945], [110107060, 110107392], [110259079, 110259248]] [[109745996, 109746569], [109964129, 109964405], [109988041, 109988137], [110015045, 110015399], [110035994, 110036098], [110048956, 110049127], [110053348, 110053602], [110065625, 110065945], [110107060, 110107392], [110259079, 110259248]]
ENST00000418513 [[109745803, 109746569], [109964129, 109964405], [109988041, 109988137], [110015045, 110015399], [110035994, 110036098], [110048956, 110049127], [110053348, 110053602], [110065625, 110065945]] [[109745996, 109746569], [109964129, 109964405], [109988041, 109988137], [110015045, 110015399], [110035994, 110036098], [110048956, 110049127], [110053348, 110053602], [110065625, 110065945]]
ENST00000444352 [[110259079, 110262207]] [[110259079, 110259248]]
NM_001099289 [[109745996, 109746569], [109964129, 109964405], [109988041, 109988137], [110015045, 110015399], [110035994, 110036098], [110048956, 110049127], [110053348, 110053602], [110065625, 110065945], [110107060, 110107392], [110259079, 110262213]] [[109745996, 109746569], [109964129, 109964405], [109988041, 109988137], [110015045, 110015399], [110035994, 110036098], [110048956, 110049127], [110053348, 110053602], [110065625, 110065945], [110107060, 110107392], [110259079, 110259248]]
Promoter
Chrom Start End Description
chr2 109745655 109745666 CAGE_peak_1_at_SH3RF3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I109275 109275125 109275601 0.95 [{'connected_gene': 'RANBP2', 'score': 13.39}, {'connected_gene': 'GC02P109284', 'score': 0.44}, {'connected_gene': 'GC02P109258', 'score': 0.37}, {'connected_gene': 'SH3RF3', 'score': 0.11}]
chr2 GH02I109486 109486531 109489069 0.78 [{'connected_gene': 'LINC01123', 'score': 3.89}, {'connected_gene': 'PIR44603', 'score': 0.39}, {'connected_gene': 'PIR55808', 'score': 0.39}, {'connected_gene': 'SH3RF3', 'score': 0.05}]
chr2 GH02I109212 109212937 109215008 1.65 [{'connected_gene': 'SH3RF3', 'score': 6.25}, {'connected_gene': 'GCC2', 'score': 4.29}, {'connected_gene': 'RANBP2', 'score': 3.0}, {'connected_gene': 'PIR32448', 'score': 0.39}, {'connected_gene': 'GC02P109192', 'score': 0.34}]
chr2 GH02I109097 109097792 109099451 0.2 [{'connected_gene': 'SH3RF3', 'score': 10.92}, {'connected_gene': 'SEPT10', 'score': 4.18}, {'connected_gene': 'LOC105373543', 'score': 0.31}, {'connected_gene': 'ENSG00000277628', 'score': 0.31}]
chr2 GH02I109244 109244506 109245509 0.31 [{'connected_gene': 'SH3RF3', 'score': 4.78}, {'connected_gene': 'SNRPGP9', 'score': 0.44}, {'connected_gene': 'PIR32448', 'score': 0.37}]
chr2 GH02I109230 109230802 109231400 1.04 [{'connected_gene': 'SH3RF3', 'score': 8.2}, {'connected_gene': 'PIR32448', 'score': 0.77}, {'connected_gene': 'SNRPGP9', 'score': 0.34}]
chr2 GH02I109247 109247801 109248318 0.79 [{'connected_gene': 'SH3RF3', 'score': 1.67}, {'connected_gene': 'SNRPGP9', 'score': 0.77}, {'connected_gene': 'PIR32448', 'score': 0.34}]
chr2 GH02I109317 109317060 109320864 1.21 [{'connected_gene': 'SH3RF3', 'score': 8.49}, {'connected_gene': 'MIR4266', 'score': 0.44}, {'connected_gene': 'GC02M109332', 'score': 0.39}, {'connected_gene': 'GC02P109284', 'score': 0.29}]
chr2 GH02I109321 109321329 109323306 0.89 [{'connected_gene': 'SH3RF3', 'score': 7.62}, {'connected_gene': 'MIR4266', 'score': 0.44}, {'connected_gene': 'GC02M109332', 'score': 0.39}, {'connected_gene': 'GC02P109284', 'score': 0.28}]
chr2 GH02I109329 109329389 109333799 1.17 [{'connected_gene': 'SH3RF3', 'score': 10.38}, {'connected_gene': 'GC02M109332', 'score': 0.77}, {'connected_gene': 'MIR4266', 'score': 0.37}, {'connected_gene': 'GC02P109284', 'score': 0.25}]
chr2 GH02I109324 109324196 109326753 0.78 [{'connected_gene': 'SH3RF3', 'score': 10.43}, {'connected_gene': 'GC02M109332', 'score': 0.44}, {'connected_gene': 'MIR4266', 'score': 0.39}, {'connected_gene': 'GC02P109284', 'score': 0.26}]
chr2 GH02I109237 109237919 109240797 1.41 [{'connected_gene': 'SH3RF3', 'score': 10.02}, {'connected_gene': 'SH3RF3-AS1', 'score': 6.55}, {'connected_gene': 'SNRPGP9', 'score': 0.39}, {'connected_gene': 'PIR32448', 'score': 0.39}]
chr2 GH02I109234 109234992 109237590 0.38 [{'connected_gene': 'SH3RF3', 'score': 10.02}, {'connected_gene': 'SH3RF3-AS1', 'score': 6.57}, {'connected_gene': 'PIR32448', 'score': 0.44}, {'connected_gene': 'SNRPGP9', 'score': 0.37}]
chr2 GH02I109208 109208335 109210754 1 [{'connected_gene': 'SH3RF3', 'score': 7.94}, {'connected_gene': 'SH3RF3-AS1', 'score': 7.0}, {'connected_gene': 'GC02P109192', 'score': 0.37}, {'connected_gene': 'PIR32448', 'score': 0.37}]
chr2 GH02I109266 109266602 109267999 1.25 [{'connected_gene': 'SH3RF3', 'score': 4.48}, {'connected_gene': 'GC02P109258', 'score': 0.44}, {'connected_gene': 'GC02P109284', 'score': 0.37}]
chr2 GH02I109254 109254236 109257046 1.33 [{'connected_gene': 'SH3RF3', 'score': 5.52}, {'connected_gene': 'GC02P109258', 'score': 0.77}, {'connected_gene': 'GC02P109252', 'score': 0.77}]
chr2 GH02I109348 109348099 109349978 0.83 [{'connected_gene': 'SH3RF3', 'score': 4.58}, {'connected_gene': 'GC02M109332', 'score': 0.37}, {'connected_gene': 'GC02P109284', 'score': 0.21}, {'connected_gene': 'PIR46395', 'score': 0.21}]
chr2 GH02I109446 109446071 109448545 1.15 [{'connected_gene': 'SH3RF3', 'score': 1.43}, {'connected_gene': 'PIR51628', 'score': 0.39}, {'connected_gene': 'PIR61253', 'score': 0.37}, {'connected_gene': 'GC02P109429', 'score': 0.37}]
chr2 GH02I109334 109334389 109337687 0.92 [{'connected_gene': 'SH3RF3', 'score': 8.4}, {'connected_gene': 'GC02M109332', 'score': 0.77}, {'connected_gene': 'GC02P109284', 'score': 0.23}, {'connected_gene': 'PIR46395', 'score': 0.18}]
chr2 GH02I109406 109406601 109407168 0.31 [{'connected_gene': 'SH3RF3', 'score': 5.18}, {'connected_gene': 'PIR46395', 'score': 0.77}, {'connected_gene': 'GC02M109332', 'score': 0.19}]
chr2 GH02I109475 109475139 109476724 0.38 [{'connected_gene': 'SMIM37', 'score': 4.45}, {'connected_gene': 'PIR55808', 'score': 0.77}, {'connected_gene': 'PIR44603', 'score': 0.34}, {'connected_gene': 'SH3RF3', 'score': 0.05}]
chr2 GH02I109216 109216532 109219083 1.26 [{'connected_gene': 'SH3RF3-AS1', 'score': 6.98}, {'connected_gene': 'SH3RF3', 'score': 6.07}, {'connected_gene': 'GCC2', 'score': 4.29}, {'connected_gene': 'PIR32448', 'score': 0.44}, {'connected_gene': 'GC02P109192', 'score': 0.31}]
chr2 GH02I109241 109241042 109244399 1.36 [{'connected_gene': 'SH3RF3-AS1', 'score': 6.66}, {'connected_gene': 'SH3RF3', 'score': 6.5}, {'connected_gene': 'SNRPGP9', 'score': 0.44}, {'connected_gene': 'PIR32448', 'score': 0.37}]
chr2 GH02I109170 109170556 109175637 1.35 [{'connected_gene': 'SH3RF3-AS1', 'score': 20.02}, {'connected_gene': 'SH3RF3', 'score': 10.94}, {'connected_gene': 'PIR41817', 'score': 0.77}, {'connected_gene': 'GC02M109159', 'score': 0.39}]
chr2 GH02I109184 109184291 109187190 0.89 [{'connected_gene': 'SH3RF3-AS1', 'score': 20.67}, {'connected_gene': 'SH3RF3', 'score': 5.93}, {'connected_gene': 'PIR41817', 'score': 0.44}, {'connected_gene': 'GC02P109192', 'score': 0.44}]
chr2 GH02I109192 109192557 109197891 0.38 [{'connected_gene': 'SH3RF3-AS1', 'score': 22.51}, {'connected_gene': 'SH3RF3', 'score': 9.76}, {'connected_gene': 'GC02P109192', 'score': 0.77}, {'connected_gene': 'PIR32448', 'score': 0.29}]
chr2 GH02I109164 109163600 109167247 1.03 [{'connected_gene': 'SH3RF3-AS1', 'score': 18.84}, {'connected_gene': 'SH3RF3', 'score': 10.45}, {'connected_gene': 'GC02M109159', 'score': 0.77}, {'connected_gene': 'PIR41817', 'score': 0.39}]
chr2 GH02I109187 109187360 109189412 0.31 [{'connected_gene': 'SH3RF3-AS1', 'score': 22.53}, {'connected_gene': 'SH3RF3', 'score': 10.63}, {'connected_gene': 'GC02P109192', 'score': 0.77}, {'connected_gene': 'PIR41817', 'score': 0.39}]
chr2 GH02I109201 109201400 109202215 0.63 [{'connected_gene': 'SH3RF3-AS1', 'score': 16.49}, {'connected_gene': 'GC02P109192', 'score': 0.44}, {'connected_gene': 'PIR32448', 'score': 0.31}, {'connected_gene': 'SH3RF3', 'score': 0.19}]
chr2 GH02I109127 109127585 109131325 1.43 [{'connected_gene': 'SH3RF3-AS1', 'score': 555.82}, {'connected_gene': 'SH3RF3', 'score': 550.77}, {'connected_gene': 'ENSG00000186148', 'score': 4.29}]
chr2 GH02I109350 109350121 109352061 0.78 [{'connected_gene': 'SH3RF3-AS1', 'score': 4.97}, {'connected_gene': 'GC02M109332', 'score': 0.37}, {'connected_gene': 'PIR46395', 'score': 0.21}, {'connected_gene': 'GC02P109284', 'score': 0.2}, {'connected_gene': 'SH3RF3', 'score': 0.07}]
chr2 GH02I109168 109168145 109168805 0.31 [{'connected_gene': 'SH3RF3-AS1', 'score': 15.37}, {'connected_gene': 'GC02M109159', 'score': 0.44}, {'connected_gene': 'PIR41817', 'score': 0.44}, {'connected_gene': 'SH3RF3', 'score': 0.28}]
chr2 GH02I109225 109225401 109225800 0.58 [{'connected_gene': 'PIR32448', 'score': 550.77}, {'connected_gene': 'GCC2', 'score': 4.1}, {'connected_gene': 'GC02P109192', 'score': 0.29}, {'connected_gene': 'SH3RF3', 'score': 0.15}]
chr2 GH02I109125 109125005 109127136 0.85 [{'connected_gene': 'ENSG00000277628', 'score': 550.77}, {'connected_gene': 'SH3RF3', 'score': 8.68}, {'connected_gene': 'SEPT10', 'score': 3.84}]
chr2 GH02I109455 109455809 109457204 0.31 [{'connected_gene': 'PIR51628', 'score': 0.77}, {'connected_gene': 'PIR61253', 'score': 0.31}, {'connected_gene': 'GC02P109429', 'score': 0.31}, {'connected_gene': 'SH3RF3', 'score': 0.05}]
chr2 GH02I109480 109480648 109483654 0.94 [{'connected_gene': 'PIR55808', 'score': 0.44}, {'connected_gene': 'PIR44603', 'score': 0.37}, {'connected_gene': 'SH3RF3', 'score': 0.05}]
chr2 GH02I109386 109386385 109386534 0.43 [{'connected_gene': 'PIR46395', 'score': 0.34}, {'connected_gene': 'GC02M109332', 'score': 0.23}, {'connected_gene': 'SH3RF3', 'score': 0.07}]
chr2 GH02I109435 109435411 109437909 0.83 [{'connected_gene': 'PIR61253', 'score': 0.44}, {'connected_gene': 'GC02P109429', 'score': 0.44}, {'connected_gene': 'PIR51628', 'score': 0.34}, {'connected_gene': 'SH3RF3', 'score': 0.06}]
chr2 GH02I109205 109205268 109205282 0.23 [{'connected_gene': 'GC02P109192', 'score': 0.39}, {'connected_gene': 'PIR32448', 'score': 0.34}, {'connected_gene': 'SH3RF3', 'score': 0.18}]
chr2 GH02I109449 109449565 109449714 0.69 [{'connected_gene': 'PIR51628', 'score': 0.39}, {'connected_gene': 'PIR61253', 'score': 0.34}, {'connected_gene': 'GC02P109429', 'score': 0.34}, {'connected_gene': 'SH3RF3', 'score': 0.05}]
chr2 GH02I109387 109386563 109386765 0.39 [{'connected_gene': 'PIR46395', 'score': 0.34}, {'connected_gene': 'GC02M109332', 'score': 0.23}, {'connected_gene': 'SH3RF3', 'score': 0.07}]
chr2 GH02I109226 109226001 109226400 0.98 [{'connected_gene': 'PIR32448', 'score': 550.77}, {'connected_gene': 'GC02P109192', 'score': 0.29}, {'connected_gene': 'SH3RF3', 'score': 0.15}]
chr2 GH02I109453 109453787 109454820 0.54 [{'connected_gene': 'PIR51628', 'score': 0.44}, {'connected_gene': 'PIR61253', 'score': 0.31}, {'connected_gene': 'GC02P109429', 'score': 0.31}, {'connected_gene': 'SH3RF3', 'score': 0.05}]
chr2 GH02I109284 109284405 109285963 0.66 [{'connected_gene': 'GC02P109284', 'score': 550.77}, {'connected_gene': 'PIR37648', 'score': 550.77}, {'connected_gene': 'SH3RF3', 'score': 0.1}]
chr2 GH02I109265 109265000 109265214 0.83 [{'connected_gene': 'GC02P109258', 'score': 0.44}, {'connected_gene': 'GC02P109284', 'score': 0.37}, {'connected_gene': 'SH3RF3', 'score': 0.12}]
chr2 GH02I109450 109450629 109452080 0.43 [{'connected_gene': 'PIR51628', 'score': 0.44}, {'connected_gene': 'PIR61253', 'score': 0.34}, {'connected_gene': 'GC02P109429', 'score': 0.34}, {'connected_gene': 'SH3RF3', 'score': 0.05}]
chr2 GH02I109339 109339005 109340535 0.4 [{'connected_gene': 'GC02M109332', 'score': 0.44}, {'connected_gene': 'GC02P109284', 'score': 0.23}, {'connected_gene': 'PIR46395', 'score': 0.19}, {'connected_gene': 'SH3RF3', 'score': 0.08}]
chr2 GH02I109383 109383125 109383254 0.46 [{'connected_gene': 'PIR46395', 'score': 0.31}, {'connected_gene': 'GC02M109332', 'score': 0.25}, {'connected_gene': 'SH3RF3', 'score': 0.07}]
chr2 GH02I109494 109494609 109495473 0.38 [{'connected_gene': 'ENSG00000186148', 'score': 4.51}, {'connected_gene': 'PIR44603', 'score': 0.77}, {'connected_gene': 'PIR55808', 'score': 0.34}, {'connected_gene': 'SH3RF3', 'score': 0.05}]
chr2 GH02I109496 109496638 109498825 0.76 [{'connected_gene': 'PIR44603', 'score': 550.77}, {'connected_gene': 'PIR55808', 'score': 0.34}, {'connected_gene': 'SH3RF3', 'score': 0.05}]
chr2 GH02I109419 109419808 109420581 0.49 [{'connected_gene': 'PIR46929', 'score': 550.77}, {'connected_gene': 'GC02P109422', 'score': 550.77}, {'connected_gene': 'PIR46395', 'score': 0.44}, {'connected_gene': 'SH3RF3', 'score': 0.06}]
chr2 GH02I109438 109438461 109439384 0.66 [{'connected_gene': 'PIR61253', 'score': 0.39}, {'connected_gene': 'GC02P109429', 'score': 0.39}, {'connected_gene': 'PIR51628', 'score': 0.34}, {'connected_gene': 'SH3RF3', 'score': 0.06}]
chr2 GH02I109457 109457304 109458594 0.69 [{'connected_gene': 'PIR51628', 'score': 0.77}, {'connected_gene': 'PIR61253', 'score': 0.31}, {'connected_gene': 'GC02P109429', 'score': 0.31}, {'connected_gene': 'SH3RF3', 'score': 0.05}]
chr2 GH02I109469 109469971 109472021 1.15 [{'connected_gene': 'PIR62328', 'score': 550.77}, {'connected_gene': 'PIR55808', 'score': 0.77}, {'connected_gene': 'SH3RF3', 'score': 0.05}]
chr2 GH02I109466 109466435 109468626 0.94 [{'connected_gene': 'ENSG00000186148', 'score': 4.19}, {'connected_gene': 'SMIM37', 'score': 4.18}, {'connected_gene': 'PIR62328', 'score': 0.77}, {'connected_gene': 'PIR51628', 'score': 0.44}, {'connected_gene': 'SH3RF3', 'score': 0.05}]
chr2 GH02I109459 109459270 109460319 0.4 [{'connected_gene': 'PIR51628', 'score': 550.77}, {'connected_gene': 'SMIM37', 'score': 3.98}, {'connected_gene': 'PIR61253', 'score': 0.29}, {'connected_gene': 'GC02P109429', 'score': 0.29}, {'connected_gene': 'SH3RF3', 'score': 0.06}]
chr2 GH02I109229 109229401 109229600 0.2 [{'connected_gene': 'PIR32448', 'score': 0.77}, {'connected_gene': 'SNRPGP9', 'score': 0.34}, {'connected_gene': 'SH3RF3', 'score': 0.15}]
chr2 GH02I109143 109143985 109144077 0.69 [{'connected_gene': 'PIR43576', 'score': 0.77}, {'connected_gene': 'MIR4265', 'score': 0.77}, {'connected_gene': 'SH3RF3', 'score': 0.39}]
chr2 GH02I109257 109257780 109257956 0.43 [{'connected_gene': 'GC02P109258', 'score': 550.77}, {'connected_gene': 'SH3RF3-AS1', 'score': 5.99}, {'connected_gene': 'MALL', 'score': 5.08}, {'connected_gene': 'GC02P109252', 'score': 0.44}, {'connected_gene': 'SH3RF3', 'score': 0.13}]
chr2 GH02I109176 109176586 109177801 0.73 [{'connected_gene': 'PIR41817', 'score': 550.77}, {'connected_gene': 'SH3RF3-AS1', 'score': 20.7}, {'connected_gene': 'GC02P109192', 'score': 0.37}, {'connected_gene': 'SH3RF3', 'score': 0.25}]
chr2 GH02I109163 109163000 109163400 0.6 [{'connected_gene': 'GC02M109159', 'score': 550.77}, {'connected_gene': 'SH3RF3-AS1', 'score': 18.44}, {'connected_gene': 'PIR41817', 'score': 0.39}, {'connected_gene': 'SH3RF3', 'score': 0.29}]

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