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
ENST00000355299 [[24701627, 24702053], [24702424, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24708448]] [[24702459, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24707984]]
ENST00000559836 [[24701647, 24701994], [24702424, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24708448]] [[24702459, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24707984]]
ENST00000561038 [[24701695, 24701994], [24702424, 24702546], [24702684, 24702804], [24703312, 24703447], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24708445]] [[24702459, 24702546], [24702684, 24702804], [24703312, 24703318]]
ENST00000559287 [[24701840, 24702053], [24702424, 24702546], [24702684, 24702799], [24704942, 24705026], [24705172, 24705346], [24706247, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24708413]] [[24702459, 24702546], [24702684, 24702799], [24704942, 24704968]]
ENST00000560139 [[24701841, 24701994], [24702424, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705247], [24706276, 24706305]] [[24702459, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705247], [24706276, 24706305]]
ENST00000559910 [[24701841, 24701994], [24702424, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705247], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24708410]] [[24702459, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705247], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24707984]]
ENST00000559801 [[24701847, 24701994], [24702424, 24702546], [24702684, 24702881]] None
ENST00000561035 [[24701871, 24701994], [24702424, 24702546], [24702684, 24702804], [24703318, 24703447], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706493]] [[24702459, 24702546], [24702684, 24702804], [24703318, 24703447], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706493]]
ENST00000559409 [[24701881, 24701994], [24702424, 24702546], [24702684, 24702792], [24704942, 24705026], [24705172, 24705346]] [[24702459, 24702546], [24702684, 24702792], [24704942, 24705026], [24705172, 24705346]]
ENST00000558865 [[24701891, 24701994], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707593]] [[24705343, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707593]]
ENST00000558279 [[24701955, 24702053], [24702684, 24702804], [24704942, 24705026], [24705172, 24705216]] [[24702759, 24702804], [24704942, 24705026], [24705172, 24705216]]
ENST00000399440 [[24702077, 24702183], [24702424, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24708448]] [[24702459, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24707984]]
ENST00000558701 [[24702098, 24702183], [24702424, 24702546], [24702684, 24702799], [24704942, 24705022]] None
ENST00000561130 [[24702103, 24702183], [24702424, 24702546], [24702684, 24702804], [24703312, 24703447], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706495]] [[24702459, 24702546], [24702684, 24702804], [24703312, 24703318]]
ENST00000420554 [[24702106, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24708448]] [[24702405, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24707984]]
ENST00000558760 [[24702107, 24702546], [24702684, 24702804], [24703312, 24703447], [24704942, 24705026], [24705172, 24705211]] [[24702405, 24702546], [24702684, 24702804], [24703312, 24703318]]
ENST00000559102 [[24702123, 24702546], [24702684, 24702799], [24704942, 24705026], [24705172, 24705271]] [[24702405, 24702546], [24702684, 24702799], [24704942, 24704968]]
ENST00000348719 [[24702128, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24708445]] [[24702459, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707984]]
ENST00000557854 [[24702128, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24708448]] [[24702405, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707984]]
ENST00000559104 [[24702152, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705247], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24708448]] [[24702405, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705247], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24707984]]
ENST00000456667 [[24702153, 24702183], [24702424, 24702546], [24702684, 24702804], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24708440]] [[24702459, 24702546], [24702684, 24702804], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24707984]]
ENST00000559606 [[24704579, 24705026], [24705172, 24705346], [24706247, 24706358]] None
ENST00000558483 [[24705301, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707832, 24708252]] [[24705301, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707832, 24707905]]
ENST00000560517 [[24706180, 24706358], [24706450, 24706557], [24706725, 24707159]] None
ENST00000559943 [[24706478, 24706557], [24706725, 24706768], [24707794, 24708032]] [[24706478, 24706557], [24706725, 24706768], [24707794, 24707865]]
ENST00000558007 [[24707393, 24707611], [24707794, 24708045]] None
ENST00000558748 [[24707451, 24707611], [24707794, 24707954], [24708111, 24708448]] [[24707451, 24707611], [24707794, 24707954], [24708111, 24708210]]
ENST00000559479 [[24707536, 24707611], [24707794, 24708009], [24708163, 24708446]] [[24707536, 24707611], [24707794, 24707984]]
ENST00000558932 [[24707584, 24707611], [24707802, 24708006]] [[24707584, 24707611], [24707802, 24707984]]
ENST00000558788 [[24707794, 24707975], [24708111, 24708447]] [[24707794, 24707975], [24708111, 24708210]]
NM_001002001 [[24701627, 24701994], [24702424, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24708448]] [[24702459, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24707984]]
NM_001283021 [[24701627, 24701994], [24702424, 24702546], [24702684, 24702804], [24703312, 24703447], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24708448]] [[24703348, 24703447], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707984]]
NR_104265 [[24701627, 24702053], [24702424, 24702546], [24702684, 24702799], [24704942, 24705026], [24705172, 24705346], [24706247, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24708448]] None
NM_001002000 [[24701627, 24702053], [24702424, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24708448]] [[24702459, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24707984]]
NM_001283023 [[24702077, 24702183], [24702424, 24702546], [24702684, 24702804], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24708448]] [[24702459, 24702546], [24702684, 24702804], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24707984]]
NM_001002002 [[24702077, 24702183], [24702424, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24708448]] [[24702459, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24707984]]
NM_016576 [[24702077, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24708448]] [[24702405, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707611], [24707794, 24707984]]
NM_001283022 [[24702077, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24708448]] [[24702405, 24702546], [24702684, 24702804], [24704942, 24705026], [24705172, 24705346], [24706276, 24706358], [24706450, 24706557], [24706725, 24706768], [24707451, 24707984]]
Promoter
Chrom Start End Description
chr14 24701644 24701730 CAGE_peak_4_at_GMPR2_5end
chr14 24701819 24701869 CAGE_peak_2_at_GMPR2_5end
chr14 24701870 24701890 CAGE_peak_5_at_GMPR2_5end
chr14 24702073 24702082 CAGE_peak_6_at_GMPR2_5end
chr14 24702099 24702124 CAGE_peak_3_at_GMPR2_5end
chr14 24702127 24702150 CAGE_peak_1_at_GMPR2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I024270 24270149 24275502 2.41 [{'connected_gene': 'RABGGTA', 'score': 550.77}, {'connected_gene': 'LOC102725044', 'score': 550.77}, {'connected_gene': 'TSSK4', 'score': 35.45}, {'connected_gene': 'IPO4', 'score': 31.35}, {'connected_gene': 'RNF31', 'score': 23.06}, {'connected_gene': 'HOMEZ', 'score': 21.69}, {'connected_gene': 'KHNYN', 'score': 21.54}, {'connected_gene': 'NOP9', 'score': 21.08}, {'connected_gene': 'NGDN', 'score': 20.87}, {'connected_gene': 'DHRS1', 'score': 18.86}, {'connected_gene': 'TINF2', 'score': 17.44}, {'connected_gene': 'LTB4R', 'score': 15.37}, {'connected_gene': 'RNA5SP383', 'score': 12.42}, {'connected_gene': 'NEDD8-MDP1', 'score': 11.71}, {'connected_gene': 'NEDD8', 'score': 11.71}, {'connected_gene': 'GMPR2', 'score': 11.22}, {'connected_gene': 'CHMP4A', 'score': 10.9}, {'connected_gene': 'ENSG00000254692', 'score': 10.9}, {'connected_gene': 'MDP1', 'score': 10.9}, {'connected_gene': 'TM9SF1', 'score': 10.86}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.83}, {'connected_gene': 'THTPA', 'score': 10.22}, {'connected_gene': 'SDR39U1', 'score': 9.86}, {'connected_gene': 'LOC102724814', 'score': 9.72}, {'connected_gene': 'CBLN3', 'score': 9.22}, {'connected_gene': 'RIPK3', 'score': 7.48}, {'connected_gene': 'IRF9', 'score': 4.27}, {'connected_gene': 'PSME1', 'score': 1.59}, {'connected_gene': 'DCAF11', 'score': 1.37}, {'connected_gene': 'PIR40275', 'score': 0.44}]
chr14 GH14I024237 24237775 24237804 0.2 [{'connected_gene': 'GMPR2', 'score': 0.44}, {'connected_gene': 'NEDD8', 'score': 0.44}, {'connected_gene': 'TINF2', 'score': 0.44}]
chr14 GH14I024235 24235215 24235364 0.38 [{'connected_gene': 'GMPR2', 'score': 0.77}, {'connected_gene': 'NEDD8', 'score': 0.77}, {'connected_gene': 'TINF2', 'score': 0.44}]
chr14 GH14I024230 24230854 24235093 2.07 [{'connected_gene': 'GMPR2', 'score': 550.77}, {'connected_gene': 'NEDD8-MDP1', 'score': 550.77}, {'connected_gene': 'NEDD8', 'score': 550.77}, {'connected_gene': 'TM9SF1', 'score': 18.96}, {'connected_gene': 'RNA5SP383', 'score': 15.93}, {'connected_gene': 'KHNYN', 'score': 15.67}, {'connected_gene': 'LOC102724814', 'score': 12.69}, {'connected_gene': 'TINF2', 'score': 12.61}, {'connected_gene': 'RNF31', 'score': 12.61}, {'connected_gene': 'MDP1', 'score': 10.1}, {'connected_gene': 'CIDEB', 'score': 9.89}, {'connected_gene': 'HOMEZ', 'score': 9.85}, {'connected_gene': 'TGM1', 'score': 9.83}, {'connected_gene': 'DHRS4-AS1', 'score': 5.57}]
chr14 GH14I024238 24238034 24239137 0.58 [{'connected_gene': 'TINF2', 'score': 0.77}, {'connected_gene': 'GMPR2', 'score': 0.44}, {'connected_gene': 'NEDD8', 'score': 0.44}]
chr14 GH14I024275 24275635 24275784 0.46 [{'connected_gene': 'TINF2', 'score': 11.74}, {'connected_gene': 'NEDD8-MDP1', 'score': 11.71}, {'connected_gene': 'NEDD8', 'score': 11.71}, {'connected_gene': 'DHRS1', 'score': 11.36}, {'connected_gene': 'NOP9', 'score': 11.36}, {'connected_gene': 'GMPR2', 'score': 11.22}, {'connected_gene': 'MDP1', 'score': 10.9}, {'connected_gene': 'CHMP4A', 'score': 10.89}, {'connected_gene': 'ENSG00000254692', 'score': 10.89}, {'connected_gene': 'TM9SF1', 'score': 10.86}, {'connected_gene': 'IPO4', 'score': 10.55}, {'connected_gene': 'TSSK4', 'score': 10.18}, {'connected_gene': 'KHNYN', 'score': 9.23}, {'connected_gene': 'CBLN3', 'score': 9.22}, {'connected_gene': 'RABGGTA', 'score': 0.77}, {'connected_gene': 'LOC102725044', 'score': 0.77}, {'connected_gene': 'PIR40275', 'score': 0.77}]
chr14 GH14I024277 24277001 24282199 1.21 [{'connected_gene': 'PIR40275', 'score': 550.77}, {'connected_gene': 'DHRS1', 'score': 39.77}, {'connected_gene': 'TINF2', 'score': 16.94}, {'connected_gene': 'NOP9', 'score': 12.92}, {'connected_gene': 'LTB4R2', 'score': 12.85}, {'connected_gene': 'LTB4R', 'score': 12.83}, {'connected_gene': 'CIDEB', 'score': 12.83}, {'connected_gene': 'GMPR2', 'score': 12.16}, {'connected_gene': 'NEDD8-MDP1', 'score': 12.16}, {'connected_gene': 'NEDD8', 'score': 12.16}, {'connected_gene': 'MDP1', 'score': 11.14}, {'connected_gene': 'CHMP4A', 'score': 11.13}, {'connected_gene': 'ENSG00000254692', 'score': 11.13}, {'connected_gene': 'TM9SF1', 'score': 11.1}, {'connected_gene': 'ADCY4', 'score': 10.8}, {'connected_gene': 'IPO4', 'score': 10.53}, {'connected_gene': 'REC8', 'score': 10.39}, {'connected_gene': 'TSSK4', 'score': 10.22}, {'connected_gene': 'IRF9', 'score': 3.96}, {'connected_gene': 'KHNYN', 'score': 2.93}, {'connected_gene': 'PSME1', 'score': 1.59}, {'connected_gene': 'DCAF11', 'score': 1.26}, {'connected_gene': 'LOC102725044', 'score': 0.44}]