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
ENST00000395795 [[44793037, 44793345], [44874084, 44874171], [44876210, 44876328], [44880392, 44880497]] [[44793338, 44793345], [44874084, 44874171], [44876210, 44876328], [44880392, 44880453]]
ENST00000374429 [[44865612, 44868791], [44874084, 44874171], [44876210, 44876328], [44880392, 44880540]] [[44868775, 44868791], [44874084, 44874171], [44876210, 44876328], [44880392, 44880453]]
ENST00000395793 [[44868069, 44868538], [44876280, 44876328], [44880392, 44880540]] [[44868335, 44868538], [44876280, 44876328], [44880392, 44880453]]
ENST00000374426 [[44871314, 44871480], [44874084, 44874171], [44876210, 44876328], [44880392, 44880491]] [[44871386, 44871480], [44874084, 44874171], [44876210, 44876328], [44880392, 44880453]]
ENST00000343575 [[44872580, 44874171], [44876210, 44876328], [44880392, 44880540]] [[44874080, 44874171], [44876210, 44876328], [44880392, 44880453]]
ENST00000395794 [[44872611, 44873353], [44874084, 44874171], [44876210, 44876328], [44880392, 44880497]] [[44873196, 44873353], [44874084, 44874171], [44876210, 44876328], [44880392, 44880453]]
ENST00000496375 [[44874004, 44874171], [44876210, 44876328], [44881423, 44881941]] None
ENST00000488591 [[44875858, 44876328], [44880392, 44880518]] None
NM_000609 [[44865600, 44868791], [44874084, 44874171], [44876210, 44876328], [44880392, 44880545]] [[44868775, 44868791], [44874084, 44874171], [44876210, 44876328], [44880392, 44880453]]
NM_001277990 [[44865600, 44868538], [44876280, 44876328], [44880392, 44880545]] [[44868335, 44868538], [44876280, 44876328], [44880392, 44880453]]
NM_001033886 [[44871314, 44871480], [44874084, 44874171], [44876210, 44876328], [44880392, 44880545]] [[44871386, 44871480], [44874084, 44874171], [44876210, 44876328], [44880392, 44880453]]
NM_199168 [[44872509, 44874171], [44876210, 44876328], [44880392, 44880545]] [[44874080, 44874171], [44876210, 44876328], [44880392, 44880453]]
NM_001178134 [[44872509, 44873353], [44874084, 44874171], [44876210, 44876328], [44880392, 44880545]] [[44873196, 44873353], [44874084, 44874171], [44876210, 44876328], [44880392, 44880453]]
Promoter
Chrom Start End Description
chr10 44880536 44880553 CAGE_peak_1_at_CXCL12_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I043671 43671733 43671915 0.74 [{'connected_gene': 'ZNF32', 'score': 11.56}, {'connected_gene': 'CXCL12', 'score': 10.71}, {'connected_gene': 'LINC00619', 'score': 10.25}, {'connected_gene': 'ENSG00000228426', 'score': 0.44}, {'connected_gene': 'PIR60234', 'score': 0.34}, {'connected_gene': 'GC10M043601', 'score': 0.29}, {'connected_gene': 'ZNF32-AS3', 'score': 0.26}]
chr10 GH10I043689 43689046 43690905 1.37 [{'connected_gene': 'ZNF32', 'score': 11.46}, {'connected_gene': 'CXCL12', 'score': 10.85}, {'connected_gene': 'PIR60234', 'score': 0.77}, {'connected_gene': 'GC10M043601', 'score': 0.39}, {'connected_gene': 'ENSG00000228426', 'score': 0.34}]
chr10 GH10I044415 44415905 44417544 0.2 [{'connected_gene': 'RPL9P21', 'score': 550.77}, {'connected_gene': 'GC10M044415', 'score': 550.77}, {'connected_gene': 'CXCL12', 'score': 11.48}, {'connected_gene': 'ENSG00000270767', 'score': 0.19}]
chr10 GH10I044878 44878293 44879972 1.13 [{'connected_gene': 'TMEM72', 'score': 19.87}, {'connected_gene': 'ENSG00000234504', 'score': 11.54}, {'connected_gene': 'ENSG00000223462', 'score': 11.4}, {'connected_gene': 'CXCL12', 'score': 9.89}, {'connected_gene': 'AGAP4', 'score': 4.19}, {'connected_gene': 'EIF2AP4', 'score': 0.19}, {'connected_gene': 'TMEM72-AS1', 'score': 0.18}, {'connected_gene': 'GC10P044773', 'score': 0.14}]
chr10 GH10I044857 44857673 44857982 0.89 [{'connected_gene': 'TMEM72', 'score': 10.43}, {'connected_gene': 'CXCL12', 'score': 9.93}, {'connected_gene': 'ENSG00000227683', 'score': 5.01}, {'connected_gene': 'EIF2AP4', 'score': 0.23}, {'connected_gene': 'GC10P044773', 'score': 0.18}, {'connected_gene': 'TMEM72-AS1', 'score': 0.15}]
chr10 GH10I044861 44861015 44862176 0.46 [{'connected_gene': 'TMEM72', 'score': 10.63}, {'connected_gene': 'ENSG00000223462', 'score': 10.19}, {'connected_gene': 'CXCL12', 'score': 10.17}, {'connected_gene': 'EIF2AP4', 'score': 0.22}, {'connected_gene': 'GC10P044773', 'score': 0.17}, {'connected_gene': 'TMEM72-AS1', 'score': 0.15}]
chr10 GH10I044458 44458888 44460666 0.46 [{'connected_gene': 'CXCL12', 'score': 10.43}, {'connected_gene': 'ENSG00000270767', 'score': 0.31}, {'connected_gene': 'RPL9P21', 'score': 0.26}]
chr10 GH10I044478 44478136 44478279 0.79 [{'connected_gene': 'CXCL12', 'score': 10.69}, {'connected_gene': 'ENSG00000270767', 'score': 0.39}, {'connected_gene': 'RPL9P21', 'score': 0.21}]
chr10 GH10I044479 44478409 44479974 0.69 [{'connected_gene': 'CXCL12', 'score': 10.5}, {'connected_gene': 'ENSG00000270767', 'score': 0.44}, {'connected_gene': 'RPL9P21', 'score': 0.21}]
chr10 GH10I044863 44863331 44865658 1.12 [{'connected_gene': 'CXCL12', 'score': 9.81}, {'connected_gene': 'TMEM72', 'score': 0.25}, {'connected_gene': 'EIF2AP4', 'score': 0.22}, {'connected_gene': 'GC10P044773', 'score': 0.16}, {'connected_gene': 'TMEM72-AS1', 'score': 0.15}]
chr10 GH10I043823 43823801 43824000 0.2 [{'connected_gene': 'CXCL12', 'score': 9.54}, {'connected_gene': 'LINC00619', 'score': 0.34}, {'connected_gene': 'HNRNPA3P1', 'score': 0.29}]
chr10 GH10I043853 43853531 43853662 0.4 [{'connected_gene': 'CXCL12', 'score': 9.89}, {'connected_gene': 'LINC00619', 'score': 0.44}, {'connected_gene': 'LINC00840', 'score': 0.44}]
chr10 GH10I044438 44438244 44439081 0.72 [{'connected_gene': 'CXCL12', 'score': 11.13}, {'connected_gene': 'TMEM72-AS1', 'score': 4.35}, {'connected_gene': 'RPL9P21', 'score': 0.34}, {'connected_gene': 'ENSG00000270767', 'score': 0.25}]
chr10 GH10I044439 44439301 44439487 0.25 [{'connected_gene': 'CXCL12', 'score': 11.13}, {'connected_gene': 'TMEM72-AS1', 'score': 4.35}, {'connected_gene': 'RPL9P21', 'score': 0.34}, {'connected_gene': 'ENSG00000270767', 'score': 0.25}]
chr10 GH10I043904 43904456 43907006 0.66 [{'connected_gene': 'CXCL12', 'score': 9.49}, {'connected_gene': 'LOC105378277', 'score': 6.86}, {'connected_gene': 'LINC00841', 'score': 0.77}, {'connected_gene': 'LINC00840', 'score': 0.25}]
chr10 GH10I043930 43930532 43932292 0.38 [{'connected_gene': 'CXCL12', 'score': 10.7}, {'connected_gene': 'LOC105378277', 'score': 7.18}, {'connected_gene': 'PIR37397', 'score': 0.37}, {'connected_gene': 'LINC00841', 'score': 0.34}, {'connected_gene': 'ENSG00000237590', 'score': 0.06}]
chr10 GH10I043824 43824627 43825735 0.58 [{'connected_gene': 'CXCL12', 'score': 9.54}, {'connected_gene': 'LINC00840', 'score': 5.26}, {'connected_gene': 'LINC00619', 'score': 0.34}, {'connected_gene': 'HNRNPA3P1', 'score': 0.29}]
chr10 GH10I044280 44280417 44281636 0.31 [{'connected_gene': 'CXCL12', 'score': 10.34}, {'connected_gene': 'C10orf142', 'score': 0.39}, {'connected_gene': 'ENSG00000237590', 'score': 0.37}]
chr10 GH10I044324 44324585 44325552 0.76 [{'connected_gene': 'CXCL12', 'score': 11.43}, {'connected_gene': 'ENSG00000229116', 'score': 0.29}, {'connected_gene': 'PIR52448', 'score': 0.25}]
chr10 GH10I044298 44298053 44298222 0.2 [{'connected_gene': 'CXCL12', 'score': 10.43}, {'connected_gene': 'ENSG00000229116', 'score': 0.77}, {'connected_gene': 'PIR52448', 'score': 0.18}]
chr10 GH10I044512 44512193 44513209 0.43 [{'connected_gene': 'CXCL12', 'score': 10.2}, {'connected_gene': 'ENSG00000270767', 'score': 0.34}, {'connected_gene': 'GC10M044501', 'score': 0.29}]
chr10 GH10I044351 44351709 44353150 0.56 [{'connected_gene': 'CXCL12', 'score': 11.31}, {'connected_gene': 'ENSG00000229116', 'score': 10.56}, {'connected_gene': 'PIR52448', 'score': 0.34}]
chr10 GH10I044651 44651973 44652122 0.2 [{'connected_gene': 'CXCL12', 'score': 9.63}, {'connected_gene': 'ENSG00000234580', 'score': 0.25}, {'connected_gene': 'GC10P044715', 'score': 0.21}]
chr10 GH10I044306 44306135 44306863 0.63 [{'connected_gene': 'CXCL12', 'score': 10.83}, {'connected_gene': 'ENSG00000229116', 'score': 0.39}, {'connected_gene': 'PIR52448', 'score': 0.2}]
chr10 GH10I044362 44362953 44363122 0.46 [{'connected_gene': 'CXCL12', 'score': 11.6}, {'connected_gene': 'PIR52448', 'score': 0.39}, {'connected_gene': 'ENSG00000229116', 'score': 0.2}]
chr10 GH10I044300 44300179 44302615 1.35 [{'connected_gene': 'CXCL12', 'score': 10.43}, {'connected_gene': 'ENSG00000229116', 'score': 0.44}, {'connected_gene': 'PIR52448', 'score': 0.19}]
chr10 GH10I044650 44650621 44651926 0.43 [{'connected_gene': 'CXCL12', 'score': 9.63}, {'connected_gene': 'ENSG00000234580', 'score': 0.25}, {'connected_gene': 'GC10P044715', 'score': 0.21}]
chr10 GH10I044381 44381293 44386320 1.68 [{'connected_gene': 'CXCL12', 'score': 550.77}, {'connected_gene': 'GC10M044376', 'score': 0.44}]
chr10 GH10I044386 44386653 44386802 0.8 [{'connected_gene': 'CXCL12', 'score': 550.77}, {'connected_gene': 'GC10P044411', 'score': 0.34}]
chr10 GH10I043845 43845920 43847383 0.78 [{'connected_gene': 'LINC00619', 'score': 550.77}, {'connected_gene': 'CXCL12', 'score': 9.54}, {'connected_gene': 'ENSG00000229116', 'score': 9.29}, {'connected_gene': 'LOC105378277', 'score': 7.8}, {'connected_gene': 'LINC00840', 'score': 0.39}]
chr10 GH10I043822 43822092 43823797 0.4 [{'connected_gene': 'LINC00619', 'score': 11.73}, {'connected_gene': 'CXCL12', 'score': 9.62}, {'connected_gene': 'HNRNPA3P1', 'score': 0.29}]
chr10 GH10I044309 44309595 44312006 1.14 [{'connected_gene': 'ZNF32-AS2', 'score': 13.22}, {'connected_gene': 'ENSG00000273363', 'score': 11.86}, {'connected_gene': 'CXCL12', 'score': 10.61}, {'connected_gene': 'ENSG00000229116', 'score': 5.31}, {'connected_gene': 'PIR52448', 'score': 0.21}]
chr10 GH10I044400 44400207 44401167 0.38 [{'connected_gene': 'TMEM72-AS1', 'score': 4.68}, {'connected_gene': 'GC10P044411', 'score': 0.44}, {'connected_gene': 'CXCL12', 'score': 0.39}]
chr10 GH10I043854 43853819 43854944 1 [{'connected_gene': 'LOC105378277', 'score': 11.33}, {'connected_gene': 'CXCL12', 'score': 9.89}, {'connected_gene': 'LINC00619', 'score': 0.44}, {'connected_gene': 'LINC00840', 'score': 0.44}]
chr10 GH10I043888 43888673 43888782 0.66 [{'connected_gene': 'LOC105378277', 'score': 11.09}, {'connected_gene': 'LINC00619', 'score': 11.08}, {'connected_gene': 'CXCL12', 'score': 9.71}, {'connected_gene': 'LINC00841', 'score': 0.34}, {'connected_gene': 'LINC00840', 'score': 0.31}]
chr10 GH10I043672 43672233 43672382 0.31 [{'connected_gene': 'ENSG00000228426', 'score': 14.37}, {'connected_gene': 'ZNF32', 'score': 11.56}, {'connected_gene': 'CXCL12', 'score': 10.71}, {'connected_gene': 'LINC00619', 'score': 10.25}, {'connected_gene': 'PIR60234', 'score': 0.34}, {'connected_gene': 'GC10M043601', 'score': 0.29}, {'connected_gene': 'ZNF32-AS3', 'score': 0.26}]
chr10 GH10I044043 44043891 44045823 0.56 [{'connected_gene': 'ENSG00000229116', 'score': 10.41}, {'connected_gene': 'CXCL12', 'score': 9.97}, {'connected_gene': 'HNRNPF', 'score': 4.16}, {'connected_gene': 'PIR37397', 'score': 0.13}, {'connected_gene': 'ENSG00000237590', 'score': 0.08}]
chr10 GH10I044334 44334083 44335821 0.57 [{'connected_gene': 'ENSG00000229116', 'score': 11.1}, {'connected_gene': 'CXCL12', 'score': 10.91}, {'connected_gene': 'PIR52448', 'score': 0.28}]
chr10 GH10I044369 44369693 44371443 0.54 [{'connected_gene': 'PIR52448', 'score': 0.77}, {'connected_gene': 'CXCL12', 'score': 0.37}, {'connected_gene': 'ENSG00000229116', 'score': 0.18}]
chr10 GH10I044316 44316453 44316702 0.66 [{'connected_gene': 'ENSG00000229116', 'score': 11.76}, {'connected_gene': 'CXCL12', 'score': 10.82}, {'connected_gene': 'PIR52448', 'score': 0.22}]
chr10 GH10I044292 44292582 44295293 1.53 [{'connected_gene': 'ENSG00000229116', 'score': 550.77}, {'connected_gene': 'C10orf142', 'score': 550.77}, {'connected_gene': 'ZNF32-AS2', 'score': 24.65}, {'connected_gene': 'CXCL12', 'score': 9.99}, {'connected_gene': 'CEP164P1', 'score': 9.86}, {'connected_gene': 'PIR52448', 'score': 0.18}]