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
ENST00000563594 [[90014332, 90015222], [90015824, 90015921], [90020650, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030577, 90030718], [90030873, 90030983], [90032268, 90034468]] [[90020660, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030577, 90030718], [90030873, 90030983], [90032268, 90032371]]
ENST00000567999 [[90015104, 90015222], [90020650, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025499]] [[90020660, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025499]]
ENST00000566079 [[90015162, 90015222], [90015827, 90015921], [90020696, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025447]] [[90015873, 90015921], [90020696, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025447]]
ENST00000561784 [[90015162, 90015222], [90015824, 90015921], [90020650, 90020784], [90021576, 90021674], [90023880, 90024068], [90025421, 90025456]] [[90020660, 90020784], [90021576, 90021674], [90023880, 90023982]]
ENST00000566820 [[90015162, 90015222], [90015824, 90015921], [90020650, 90020784], [90021576, 90021674], [90023945, 90024068], [90025421, 90025458]] [[90020660, 90020784], [90021576, 90021674], [90023945, 90024068], [90025421, 90025458]]
ENST00000562578 [[90015162, 90015222], [90020696, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027373]] [[90015204, 90015222], [90020696, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027373]]
ENST00000561741 [[90015182, 90015222], [90015972, 90016046], [90020650, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025505]] [[90015204, 90015222], [90015972, 90016046], [90020650, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025505]]
ENST00000268676 [[90015182, 90015222], [90015824, 90016046], [90020650, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030577, 90030718], [90030873, 90030983], [90032268, 90034468]] [[90015873, 90016046], [90020650, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030577, 90030718], [90030873, 90030983], [90032268, 90032371]]
ENST00000562986 [[90015186, 90015222], [90021576, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027380]] [[90021632, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027380]]
ENST00000569453 [[90015198, 90015222], [90015824, 90015921], [90016474, 90016736], [90020650, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030577, 90030718], [90030873, 90030983], [90032268, 90032474]] [[90020660, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030577, 90030718], [90030873, 90030983], [90032268, 90032371]]
ENST00000568096 [[90015202, 90015222], [90015824, 90015921], [90020650, 90020784], [90021576, 90021674], [90023101, 90023295]] None
ENST00000567243 [[90015202, 90015222], [90015824, 90015921], [90020650, 90020784], [90021576, 90021674], [90022937, 90023056], [90023918, 90024000]] None
ENST00000567884 [[90015202, 90015222], [90015824, 90015921], [90018965, 90019090], [90020650, 90020784], [90021576, 90021674], [90023918, 90024016]] [[90020660, 90020784], [90021576, 90021674], [90023918, 90024016]]
ENST00000569803 [[90015202, 90015222], [90015824, 90015921], [90020650, 90020784], [90021576, 90021674], [90023918, 90024068], [90024409, 90024449]] None
ENST00000569061 [[90015202, 90015222], [90015824, 90015921], [90018969, 90019090], [90020650, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025452]] [[90020660, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025452]]
ENST00000418391 [[90015202, 90015222], [90015824, 90015921], [90020650, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025774]] [[90020660, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025643]]
ENST00000561959 [[90015202, 90015222], [90020650, 90020784], [90021576, 90021674], [90023918, 90024068], [90030873, 90030983], [90032268, 90032314]] [[90020660, 90020784], [90021576, 90021674], [90023918, 90024068], [90030873, 90030983], [90032268, 90032314]]
ENST00000567874 [[90015202, 90015222], [90015824, 90015921], [90021576, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030577, 90030718], [90030873, 90030983], [90032268, 90032576]] [[90021632, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030577, 90030718], [90030873, 90030983], [90032268, 90032371]]
ENST00000570182 [[90015202, 90015222], [90015824, 90015921], [90020650, 90020784], [90021576, 90021674], [90023948, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030577, 90030718], [90030873, 90030983], [90032268, 90034467]] [[90020660, 90020784], [90021576, 90021674], [90023948, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030577, 90030718], [90030873, 90030983], [90032268, 90032371]]
ENST00000563795 [[90015210, 90015222], [90015824, 90015921], [90020650, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030628, 90030718], [90030873, 90030983], [90032268, 90032714]] [[90020660, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030628, 90030718], [90030873, 90030983], [90032268, 90032371]]
ENST00000564836 [[90020579, 90020784], [90021576, 90021650]] [[90020660, 90020784], [90021576, 90021650]]
ENST00000568760 [[90023660, 90024068], [90025421, 90025563], [90027338, 90027367]] None
ENST00000562044 [[90024758, 90024941], [90025421, 90025773]] None
ENST00000563848 [[90024839, 90024941], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028531]] None
ENST00000563805 [[90028460, 90028533], [90029770, 90029851], [90030628, 90030983], [90032268, 90032751]] None
ENST00000562163 [[90030205, 90030294], [90030628, 90030718], [90030873, 90030983], [90032268, 90032452]] None
ENST00000564379 [[90030247, 90030718], [90030873, 90030983], [90032268, 90034041]] None
NM_001242821 [[90015138, 90015222], [90020650, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025774]] [[90020660, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025643]]
NM_001242822 [[90015138, 90015222], [90015827, 90015921], [90020650, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025774]] [[90020660, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025643]]
NM_017702 [[90015138, 90015222], [90015824, 90015921], [90020650, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025774]] [[90020660, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025643]]
NM_001242817 [[90015138, 90015222], [90015824, 90015921], [90021576, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030577, 90030718], [90030873, 90030983], [90032268, 90034468]] [[90021632, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030577, 90030718], [90030873, 90030983], [90032268, 90032371]]
NM_001242816 [[90015138, 90015222], [90015824, 90015921], [90020650, 90020784], [90021576, 90021674], [90023948, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030577, 90030718], [90030873, 90030983], [90032268, 90034468]] [[90020660, 90020784], [90021576, 90021674], [90023948, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030577, 90030718], [90030873, 90030983], [90032268, 90032371]]
NM_001242818 [[90015138, 90015222], [90015824, 90015921], [90020650, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030577, 90030718], [90030873, 90030983], [90032268, 90034468]] [[90020660, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030577, 90030718], [90030873, 90030983], [90032268, 90032371]]
NM_001242820 [[90015138, 90015222], [90015824, 90015921], [90016474, 90016714], [90020650, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030577, 90030718], [90030873, 90030983], [90032268, 90034468]] [[90020660, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030577, 90030718], [90030873, 90030983], [90032268, 90032371]]
NM_207514 [[90015138, 90015222], [90015824, 90016046], [90020650, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030577, 90030718], [90030873, 90030983], [90032268, 90034468]] [[90015873, 90016046], [90020650, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030577, 90030718], [90030873, 90030983], [90032268, 90032371]]
NM_001242819 [[90015827, 90015921], [90020650, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030628, 90030718], [90030873, 90030983], [90032268, 90034468]] [[90020660, 90020784], [90021576, 90021674], [90023918, 90024068], [90025421, 90025563], [90027338, 90027503], [90028144, 90028272], [90028419, 90028533], [90029770, 90029851], [90030628, 90030718], [90030873, 90030983], [90032268, 90032371]]
Promoter
Chrom Start End Description
chr16 90015139 90015208 CAGE_peak_1_at_DEF8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I089717 89717305 89724801 2.29 [{'connected_gene': 'VPS9D1', 'score': 569.94}, {'connected_gene': 'ZNF276', 'score': 555.17}, {'connected_gene': 'AFG3L1P', 'score': 35.64}, {'connected_gene': 'CDK10', 'score': 30.8}, {'connected_gene': 'LOC101927863', 'score': 27.91}, {'connected_gene': 'ENSG00000268218', 'score': 23.15}, {'connected_gene': 'ACSF3', 'score': 22.83}, {'connected_gene': 'ANKRD11', 'score': 20.7}, {'connected_gene': 'MC1R', 'score': 20.18}, {'connected_gene': 'TCF25', 'score': 19.67}, {'connected_gene': 'DBNDD1', 'score': 16.51}, {'connected_gene': 'VPS9D1-AS1', 'score': 15.54}, {'connected_gene': 'TUBB3', 'score': 13.87}, {'connected_gene': 'RPL13', 'score': 12.96}, {'connected_gene': 'SNORD68', 'score': 12.86}, {'connected_gene': 'FANCA', 'score': 11.28}, {'connected_gene': 'ENSG00000260279', 'score': 10.88}, {'connected_gene': 'GALNS', 'score': 7.03}, {'connected_gene': 'DEF8', 'score': 5.23}, {'connected_gene': 'ENSG00000259877', 'score': 4.33}]
chr16 GH16I089971 89971052 89975874 2.06 [{'connected_gene': 'CENPBD1', 'score': 562.12}, {'connected_gene': 'AFG3L1P', 'score': 560.77}, {'connected_gene': 'DEF8', 'score': 21.21}, {'connected_gene': 'ACSF3', 'score': 13.22}, {'connected_gene': 'ANKRD11', 'score': 12.97}, {'connected_gene': 'TUBB3', 'score': 12.25}, {'connected_gene': 'ENSG00000198211', 'score': 12.25}, {'connected_gene': 'ZNF778', 'score': 12.21}, {'connected_gene': 'URAHP', 'score': 11.15}, {'connected_gene': 'TCF25', 'score': 11.13}, {'connected_gene': 'ENSG00000268218', 'score': 10.71}, {'connected_gene': 'SNORD68', 'score': 10.67}, {'connected_gene': 'LOC101927863', 'score': 10.57}, {'connected_gene': 'MC1R', 'score': 10.43}, {'connected_gene': 'CHMP1A', 'score': 10.22}, {'connected_gene': 'CDK10', 'score': 9.61}, {'connected_gene': 'DBNDD1', 'score': 8.91}, {'connected_gene': 'GAS8', 'score': 7.13}, {'connected_gene': 'SPIRE2', 'score': 6.15}, {'connected_gene': 'RPL13', 'score': 4.63}, {'connected_gene': 'ENSG00000261317', 'score': 0.77}, {'connected_gene': 'PIR34106', 'score': 0.37}, {'connected_gene': 'GC16P089993', 'score': 0.37}]
chr16 GH16I090055 90055086 90056217 0.46 [{'connected_gene': 'DBNDD1', 'score': 20.07}, {'connected_gene': 'DEF8', 'score': 17.25}, {'connected_gene': 'URAHP', 'score': 0.44}, {'connected_gene': 'PRDM7', 'score': 0.28}]
chr16 GH16I090018 90018453 90023757 2.3 [{'connected_gene': 'DBNDD1', 'score': 573.41}, {'connected_gene': 'GAS8', 'score': 566.35}, {'connected_gene': 'DEF8', 'score': 17.26}, {'connected_gene': 'PRDM7', 'score': 16.44}, {'connected_gene': 'ACSF3', 'score': 13.24}, {'connected_gene': 'ANKRD11', 'score': 11.79}, {'connected_gene': 'SNORD68', 'score': 11.66}, {'connected_gene': 'URAHP', 'score': 9.95}, {'connected_gene': 'GAS8-AS1', 'score': 5.97}, {'connected_gene': 'TUBB3', 'score': 1.46}]
chr16 GH16I089931 89931567 89933102 0.46 [{'connected_gene': 'DEF8', 'score': 23.73}, {'connected_gene': 'CENPBD1', 'score': 13.32}, {'connected_gene': 'AFG3L1P', 'score': 13.32}, {'connected_gene': 'CDK10', 'score': 10.97}, {'connected_gene': 'MC1R', 'score': 4.21}, {'connected_gene': 'ENSG00000259006', 'score': 0.44}, {'connected_gene': 'GC16P089938', 'score': 0.44}, {'connected_gene': 'TUBB3', 'score': 0.39}, {'connected_gene': 'ENSG00000198211', 'score': 0.39}]
chr16 GH16I089947 89947613 89950021 1.99 [{'connected_gene': 'DEF8', 'score': 575.64}, {'connected_gene': 'CDK10', 'score': 30.24}, {'connected_gene': 'MC1R', 'score': 13.79}, {'connected_gene': 'ACSF3', 'score': 13.22}, {'connected_gene': 'ANKRD11', 'score': 12.97}, {'connected_gene': 'ZNF778', 'score': 12.2}, {'connected_gene': 'TCF25', 'score': 11.16}, {'connected_gene': 'ENSG00000268218', 'score': 10.71}, {'connected_gene': 'SNORD68', 'score': 10.67}, {'connected_gene': 'LOC101927863', 'score': 10.58}, {'connected_gene': 'AFG3L1P', 'score': 10.34}, {'connected_gene': 'CHMP1A', 'score': 10.22}, {'connected_gene': 'CENPBD1', 'score': 5.01}, {'connected_gene': 'FANCA', 'score': 4.49}, {'connected_gene': 'ENSG00000261317', 'score': 0.34}]
chr16 GH16I090081 90081553 90083200 1.23 [{'connected_gene': 'DEF8', 'score': 13.08}, {'connected_gene': 'CDK10', 'score': 10.79}, {'connected_gene': 'ENSG00000261172', 'score': 7.17}, {'connected_gene': 'TUBB8P7', 'score': 6.95}, {'connected_gene': 'FANCA', 'score': 6.29}, {'connected_gene': 'FAM157C', 'score': 5.19}, {'connected_gene': 'PRDM7', 'score': 0.44}, {'connected_gene': 'URAHP', 'score': 0.29}]
chr16 GH16I089953 89953587 89954482 0.69 [{'connected_gene': 'DEF8', 'score': 12.76}, {'connected_gene': 'CDK10', 'score': 6.24}, {'connected_gene': 'ENSG00000261317', 'score': 0.37}]
chr16 GH16I090044 90044193 90044382 0.74 [{'connected_gene': 'DEF8', 'score': 13.44}, {'connected_gene': 'SPIRE2', 'score': 4.71}, {'connected_gene': 'GC16P090043', 'score': 0.77}, {'connected_gene': 'URAHP', 'score': 0.77}, {'connected_gene': 'GAS8', 'score': 0.34}]
chr16 GH16I090008 90008201 90009600 0.89 [{'connected_gene': 'DEF8', 'score': 19.24}, {'connected_gene': 'DBNDD1', 'score': 16.53}, {'connected_gene': 'URAHP', 'score': 12.04}, {'connected_gene': 'TUBB3', 'score': 11.8}, {'connected_gene': 'ENSG00000198211', 'score': 11.8}, {'connected_gene': 'VPS9D1-AS1', 'score': 5.08}, {'connected_gene': 'PIR44838', 'score': 0.39}, {'connected_gene': 'GAS8', 'score': 0.39}]
chr16 GH16I089956 89956401 89959142 1.19 [{'connected_gene': 'DEF8', 'score': 21.08}, {'connected_gene': 'ZNF778', 'score': 15.2}, {'connected_gene': 'DBNDD1', 'score': 14.89}, {'connected_gene': 'CDK10', 'score': 13.89}, {'connected_gene': 'CENPBD1', 'score': 4.84}, {'connected_gene': 'GAS8-AS1', 'score': 4.49}, {'connected_gene': 'ENSG00000261317', 'score': 0.39}]
chr16 GH16I089967 89967201 89967916 0.46 [{'connected_gene': 'DEF8', 'score': 20.36}, {'connected_gene': 'ENSG00000261317', 'score': 0.77}]
chr16 GH16I089306 89306735 89308231 0.38 [{'connected_gene': 'LINC00304', 'score': 5.68}, {'connected_gene': 'ENSG00000260279', 'score': 5.56}, {'connected_gene': 'LOC339059', 'score': 5.37}, {'connected_gene': 'DEF8', 'score': 4.97}, {'connected_gene': 'LOC100287036', 'score': 0.39}, {'connected_gene': 'ANKRD11', 'score': 0.09}]
chr16 GH16I089440 89440002 89445763 1.51 [{'connected_gene': 'RNU6-430P', 'score': 550.77}, {'connected_gene': 'GC16P089443', 'score': 550.77}, {'connected_gene': 'DBNDD1', 'score': 14.55}, {'connected_gene': 'SPG7', 'score': 11.27}, {'connected_gene': 'RPL13', 'score': 11.04}, {'connected_gene': 'ZNF778', 'score': 4.96}, {'connected_gene': 'TUBB3', 'score': 4.81}, {'connected_gene': 'DEF8', 'score': 4.31}, {'connected_gene': 'LOC101927817', 'score': 0.39}, {'connected_gene': 'ANKRD11', 'score': 0.25}]
chr16 GH16I090046 90046263 90047801 1.42 [{'connected_gene': 'URAHP', 'score': 550.77}, {'connected_gene': 'GAS8', 'score': 15.26}, {'connected_gene': 'DEF8', 'score': 12.25}, {'connected_gene': 'GC16P090043', 'score': 0.44}]
chr16 GH16I088956 88956601 88959000 0.94 [{'connected_gene': 'PIR55515', 'score': 550.77}, {'connected_gene': 'PABPN1L', 'score': 11.72}, {'connected_gene': 'CDK10', 'score': 6.48}, {'connected_gene': 'CBFA2T3', 'score': 6.16}, {'connected_gene': 'GALNS', 'score': 4.88}, {'connected_gene': 'DEF8', 'score': 4.05}, {'connected_gene': 'PIR58575', 'score': 0.44}]
chr16 GH16I089903 89903922 89905420 0.69 [{'connected_gene': 'ENSG00000267048', 'score': 550.77}, {'connected_gene': 'TUBB3', 'score': 18.91}, {'connected_gene': 'DEF8', 'score': 4.21}, {'connected_gene': 'GC16P089898', 'score': 0.44}, {'connected_gene': 'PIR49126', 'score': 0.44}, {'connected_gene': 'TCF25', 'score': 0.29}]
chr16 GH16I090098 90098401 90104400 0.52 [{'connected_gene': 'GC16M090102', 'score': 550.77}, {'connected_gene': 'FAM157C', 'score': 550.77}, {'connected_gene': 'LOC105376786', 'score': 550.77}, {'connected_gene': 'GAS8', 'score': 15.79}, {'connected_gene': 'DEF8', 'score': 13.87}, {'connected_gene': 'TUBB8P7', 'score': 8.8}, {'connected_gene': 'DBNDD1', 'score': 5.7}]

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