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
ENST00000371347 [[46620677, 46621035], [46623579, 46623771], [46626698, 46626783], [46630112, 46630235], [46632510, 46632623], [46636445, 46636530], [46637871, 46637964], [46638862, 46638965], [46644119, 46645930]] [[46620929, 46621035], [46623579, 46623771], [46626698, 46626783], [46630112, 46630235], [46632510, 46632623], [46636445, 46636530], [46637871, 46637964], [46638862, 46638965], [46644119, 46644191]]
ENST00000411689 [[46620678, 46621035], [46623579, 46623771], [46626698, 46626783], [46630112, 46630235], [46632510, 46632623], [46636445, 46636530], [46644383, 46644750]] [[46620929, 46621035], [46623579, 46623771], [46626698, 46626783], [46630112, 46630235], [46632510, 46632623], [46636445, 46636530], [46644383, 46644417]]
ENST00000452689 [[46620721, 46621035], [46623579, 46623767], [46626161, 46626265], [46626698, 46626783], [46630112, 46630235], [46632510, 46632623], [46636445, 46636530], [46637871, 46637964], [46638862, 46638965], [46644119, 46644513]] [[46626225, 46626265], [46626698, 46626783], [46630112, 46630235], [46632510, 46632623], [46636445, 46636530], [46637871, 46637964], [46638862, 46638965], [46644119, 46644191]]
ENST00000603486 [[46626399, 46626783], [46630112, 46630235], [46632510, 46632623], [46636445, 46636484]] [[46626610, 46626783], [46630112, 46630235], [46632510, 46632623], [46636445, 46636484]]
ENST00000604908 [[46626489, 46626783], [46630112, 46630235], [46636445, 46636530], [46637871, 46637945]] None
ENST00000604217 [[46630196, 46630235], [46632510, 46632623], [46636445, 46636530], [46637871, 46637964], [46638862, 46638965]] [[46630196, 46630235], [46632510, 46632623], [46636445, 46636530], [46637871, 46637964], [46638862, 46638965]]
ENST00000604127 [[46630196, 46630235], [46632510, 46632623], [46636445, 46636530], [46637871, 46637964], [46638862, 46638965], [46644383, 46644480], [46645347, 46645654]] [[46630196, 46630235], [46632510, 46632623], [46636445, 46636530], [46637871, 46637964], [46638862, 46638965], [46644383, 46644386]]
ENST00000604616 [[46632611, 46632623], [46636445, 46636530], [46637871, 46637964], [46638862, 46638965], [46644383, 46644740]] [[46632611, 46632623], [46636445, 46636530], [46637871, 46637964], [46638862, 46638965], [46644383, 46644386]]
ENST00000603501 [[46644249, 46644480], [46645347, 46645471]] None
NM_001204052 [[46620651, 46621035], [46623579, 46623771], [46626698, 46626783], [46630112, 46630235], [46632510, 46632623], [46636445, 46636530], [46644383, 46645927]] [[46620929, 46621035], [46623579, 46623771], [46626698, 46626783], [46630112, 46630235], [46632510, 46632623], [46636445, 46636530], [46644383, 46644417]]
NM_001204051 [[46620651, 46621035], [46623579, 46623771], [46626698, 46626783], [46630112, 46630235], [46632510, 46632623], [46636445, 46636530], [46637871, 46637964], [46638862, 46638965], [46644383, 46645927]] [[46620929, 46621035], [46623579, 46623771], [46626698, 46626783], [46630112, 46630235], [46632510, 46632623], [46636445, 46636530], [46637871, 46637964], [46638862, 46638965], [46644383, 46644386]]
NM_004277 [[46620651, 46621035], [46623579, 46623771], [46626698, 46626783], [46630112, 46630235], [46632510, 46632623], [46636445, 46636530], [46637871, 46637964], [46638862, 46638965], [46644119, 46645927]] [[46620929, 46621035], [46623579, 46623771], [46626698, 46626783], [46630112, 46630235], [46632510, 46632623], [46636445, 46636530], [46637871, 46637964], [46638862, 46638965], [46644119, 46644191]]
Promoter
Chrom Start End Description
chr6 46620651 46620660 CAGE_peak_4_at_SLC25A27_5end
chr6 46620676 46620696 CAGE_peak_3_at_SLC25A27_5end
chr6 46620705 46620732 CAGE_peak_1_at_SLC25A27_5end
chr6 46620738 46620755 CAGE_peak_2_at_SLC25A27_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I046893 46893153 46894957 0.72 [{'connected_gene': 'SLC25A27', 'score': 18.52}, {'connected_gene': 'PLA2G7', 'score': 10.09}, {'connected_gene': 'TDRD6', 'score': 9.81}, {'connected_gene': 'LOC101926962', 'score': 0.44}, {'connected_gene': 'GC06P046865', 'score': 0.31}, {'connected_gene': 'ADGRF5', 'score': 0.21}]
chr6 GH06I046651 46651209 46653853 1.96 [{'connected_gene': 'SLC25A27', 'score': 579.04}, {'connected_gene': 'CYP39A1', 'score': 550.77}, {'connected_gene': 'TDRD6', 'score': 34.43}, {'connected_gene': 'PLA2G7', 'score': 10.34}, {'connected_gene': 'RCAN2', 'score': 0.1}]
chr6 GH06I046465 46465987 46467501 0.38 [{'connected_gene': 'SLC25A27', 'score': 19.06}, {'connected_gene': 'CYP39A1', 'score': 13.17}, {'connected_gene': 'LOC101926898', 'score': 12.03}, {'connected_gene': 'RCAN2', 'score': 12.03}, {'connected_gene': 'PLA2G7', 'score': 9.66}, {'connected_gene': 'TDRD6', 'score': 4.47}, {'connected_gene': 'RPL36P10', 'score': 0.31}]
chr6 GH06I046291 46291432 46291655 0.42 [{'connected_gene': 'SLC25A27', 'score': 3.03}, {'connected_gene': 'ENPP4', 'score': 2.28}, {'connected_gene': 'LOC101926915', 'score': 0.37}, {'connected_gene': 'RPL36P10', 'score': 0.11}, {'connected_gene': 'RCAN2', 'score': 0.08}]
chr6 GH06I047167 47167234 47171274 1.36 [{'connected_gene': 'SLC25A27', 'score': 11.99}, {'connected_gene': 'TDRD6', 'score': 11.53}, {'connected_gene': 'PTCHD4', 'score': 11.0}, {'connected_gene': 'LOC105375081', 'score': 0.29}, {'connected_gene': 'TNFRSF21', 'score': 0.11}]
chr6 GH06I046982 46982678 46984508 0.94 [{'connected_gene': 'SLC25A27', 'score': 12.02}, {'connected_gene': 'TDRD6', 'score': 11.54}, {'connected_gene': 'ADGRF5', 'score': 11.45}, {'connected_gene': 'PLA2G7', 'score': 10.74}, {'connected_gene': 'ADGRF1', 'score': 0.22}]
chr6 GH06I046502 46502212 46503281 0.38 [{'connected_gene': 'SLC25A27', 'score': 7.18}, {'connected_gene': 'TDRD6', 'score': 6.2}, {'connected_gene': 'LOC101926898', 'score': 0.39}, {'connected_gene': 'RCAN2', 'score': 0.39}, {'connected_gene': 'CYP39A1', 'score': 0.1}]
chr6 GH06I046848 46848351 46849624 1.14 [{'connected_gene': 'SLC25A27', 'score': 18.04}, {'connected_gene': 'TDRD6', 'score': 11.58}, {'connected_gene': 'GC06M046858', 'score': 0.39}, {'connected_gene': 'GC06M046859', 'score': 0.39}, {'connected_gene': 'GC06P046830', 'score': 0.37}]
chr6 GH06I047125 47125749 47128051 1.01 [{'connected_gene': 'SLC25A27', 'score': 11.24}, {'connected_gene': 'LOC105375081', 'score': 0.39}, {'connected_gene': 'ADGRF1', 'score': 0.18}]
chr6 GH06I046504 46504571 46506933 0.2 [{'connected_gene': 'SLC25A27', 'score': 6.86}, {'connected_gene': 'RCAN2', 'score': 6.12}, {'connected_gene': 'LOC101926898', 'score': 0.39}, {'connected_gene': 'CYP39A1', 'score': 0.11}]
chr6 GH06I046530 46530155 46531081 0.2 [{'connected_gene': 'SLC25A27', 'score': 5.03}, {'connected_gene': 'LOC101926898', 'score': 0.28}, {'connected_gene': 'RCAN2', 'score': 0.28}, {'connected_gene': 'CYP39A1', 'score': 0.13}]
chr6 GH06I046203 46203053 46204027 0.2 [{'connected_gene': 'ACTG1P9', 'score': 550.77}, {'connected_gene': 'ENPP5', 'score': 11.19}, {'connected_gene': 'SLC25A27', 'score': 4.94}]
chr6 GH06I046734 46733980 46735826 1.86 [{'connected_gene': 'PLA2G7', 'score': 550.77}, {'connected_gene': 'SLC25A27', 'score': 64.67}, {'connected_gene': 'TDRD6', 'score': 32.17}, {'connected_gene': 'CYP39A1', 'score': 20.99}, {'connected_gene': 'CD2AP', 'score': 17.99}, {'connected_gene': 'GC06P046731', 'score': 0.77}]
chr6 GH06I046500 46500408 46501013 0.38 [{'connected_gene': 'PLA2G7', 'score': 9.61}, {'connected_gene': 'SLC25A27', 'score': 4.92}, {'connected_gene': 'LOC101926898', 'score': 0.44}, {'connected_gene': 'RCAN2', 'score': 0.44}, {'connected_gene': 'CYP39A1', 'score': 0.1}]
chr6 GH06I046501 46501097 46502140 0.38 [{'connected_gene': 'PLA2G7', 'score': 9.61}, {'connected_gene': 'SLC25A27', 'score': 7.27}, {'connected_gene': 'LOC101926898', 'score': 0.44}, {'connected_gene': 'RCAN2', 'score': 0.44}, {'connected_gene': 'CYP39A1', 'score': 0.1}]
chr6 GH06I046820 46820978 46823070 0.71 [{'connected_gene': 'PLA2G7', 'score': 10.47}, {'connected_gene': 'TDRD6', 'score': 10.15}, {'connected_gene': 'SLC25A27', 'score': 4.52}, {'connected_gene': 'GC06P046830', 'score': 0.44}, {'connected_gene': 'MEP1A', 'score': 0.31}]
chr6 GH06I046807 46807721 46809360 0.43 [{'connected_gene': 'PLA2G7', 'score': 10.61}, {'connected_gene': 'TDRD6', 'score': 9.87}, {'connected_gene': 'ADGRF5', 'score': 9.47}, {'connected_gene': 'SLC25A27', 'score': 6.62}, {'connected_gene': 'MEP1A', 'score': 4.77}, {'connected_gene': 'GC06P046792', 'score': 0.37}, {'connected_gene': 'GC06P046830', 'score': 0.34}]
chr6 GH06I046814 46814752 46817543 0.45 [{'connected_gene': 'PLA2G7', 'score': 10.56}, {'connected_gene': 'LOC101926962', 'score': 9.95}, {'connected_gene': 'SLC25A27', 'score': 7.18}, {'connected_gene': 'MEP1A', 'score': 6.46}, {'connected_gene': 'ADGRF4', 'score': 4.12}, {'connected_gene': 'GC06P046830', 'score': 0.39}]
chr6 GH06I047307 47307632 47310574 2.06 [{'connected_gene': 'TNFRSF21', 'score': 550.77}, {'connected_gene': 'SLC25A27', 'score': 11.99}, {'connected_gene': 'TDRD6', 'score': 11.51}, {'connected_gene': 'LOC105375081', 'score': 0.09}]
chr6 GH06I046507 46507282 46509600 0.46 [{'connected_gene': 'TDRD6', 'score': 7.48}, {'connected_gene': 'SLC25A27', 'score': 7.1}, {'connected_gene': 'LOC101926898', 'score': 0.37}, {'connected_gene': 'RCAN2', 'score': 0.37}, {'connected_gene': 'CYP39A1', 'score': 0.11}]
chr6 GH06I046787 46787835 46791736 0.6 [{'connected_gene': 'TDRD6', 'score': 14.64}, {'connected_gene': 'PLA2G7', 'score': 10.4}, {'connected_gene': 'SLC25A27', 'score': 5.9}, {'connected_gene': 'GC06P046792', 'score': 0.77}, {'connected_gene': 'ENSG00000236164', 'score': 0.31}]
chr6 GH06I046486 46486712 46488520 0.2 [{'connected_gene': 'TDRD6', 'score': 6.14}, {'connected_gene': 'RCAN2', 'score': 5.35}, {'connected_gene': 'SLC25A27', 'score': 4.72}, {'connected_gene': 'LOC101926898', 'score': 0.77}, {'connected_gene': 'RPL36P10', 'score': 0.25}]
chr6 GH06I046921 46921801 46922000 1.01 [{'connected_gene': 'ADGRF5', 'score': 561.82}, {'connected_gene': 'SLC25A27', 'score': 4.51}, {'connected_gene': 'LOC105375080', 'score': 0.44}, {'connected_gene': 'LOC101926962', 'score': 0.37}]
chr6 GH06I046908 46908264 46909391 0.2 [{'connected_gene': 'ADGRF5', 'score': 10.43}, {'connected_gene': 'SLC25A27', 'score': 4.63}, {'connected_gene': 'LOC101926962', 'score': 0.44}, {'connected_gene': 'LOC105375080', 'score': 0.34}]
chr6 GH06I046932 46932314 46934340 0.71 [{'connected_gene': 'LOC105375080', 'score': 550.77}, {'connected_gene': 'ADGRF5', 'score': 12.27}, {'connected_gene': 'LOC101926962', 'score': 11.38}, {'connected_gene': 'SLC25A27', 'score': 5.73}, {'connected_gene': 'TDRD6', 'score': 5.31}]
chr6 GH06I046322 46322979 46324151 0.67 [{'connected_gene': 'RCAN2', 'score': 7.23}, {'connected_gene': 'SLC25A27', 'score': 3.17}, {'connected_gene': 'ENPP4', 'score': 2.65}, {'connected_gene': 'ENPP5', 'score': 1.55}, {'connected_gene': 'CLIC5', 'score': 1.28}, {'connected_gene': 'LOC101926915', 'score': 0.25}, {'connected_gene': 'RPL36P10', 'score': 0.14}]
chr6 GH06I046512 46512161 46512690 0.2 [{'connected_gene': 'RCAN2', 'score': 17.46}, {'connected_gene': 'LOC101926898', 'score': 12.44}, {'connected_gene': 'SLC25A27', 'score': 8.34}, {'connected_gene': 'CYP39A1', 'score': 0.11}]
chr6 GH06I046518 46518163 46518769 0.2 [{'connected_gene': 'RCAN2', 'score': 17.0}, {'connected_gene': 'LOC101926898', 'score': 11.16}, {'connected_gene': 'SLC25A27', 'score': 4.62}, {'connected_gene': 'CYP39A1', 'score': 0.12}]
chr6 GH06I046900 46900863 46904465 0.54 [{'connected_gene': 'LOC101926962', 'score': 550.77}, {'connected_gene': 'ADGRF5', 'score': 10.7}, {'connected_gene': 'MEP1A', 'score': 9.73}, {'connected_gene': 'SLC25A27', 'score': 6.22}, {'connected_gene': 'GC06P046865', 'score': 0.28}]