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
ENST00000451925 [[39508688, 39508774], [39509013, 39509231], [39521530, 39521614], [39543556, 39543735]] [[39543560, 39543735]]
ENST00000354668 [[39509069, 39509231], [39521530, 39521614], [39543556, 39543766], [39544025, 39544371]] [[39543560, 39543766], [39544025, 39544371]]
ENST00000428261 [[39509095, 39509231], [39521530, 39521614], [39540957, 39541023], [39543556, 39543766], [39554873, 39554938]] [[39543560, 39543766], [39554873, 39554913]]
ENST00000420739 [[39509095, 39509231], [39521530, 39521614], [39543556, 39543766], [39544025, 39544405], [39554873, 39555003]] [[39543560, 39543766], [39544025, 39544371]]
ENST00000415443 [[39509095, 39509231], [39540957, 39541023], [39543556, 39543766], [39554873, 39555038]] [[39543560, 39543766], [39554873, 39554913]]
ENST00000447324 [[39509095, 39509231], [39543556, 39543766], [39554873, 39555093]] [[39543560, 39543766], [39554873, 39554913]]
ENST00000383754 [[39509095, 39509231], [39521530, 39521614], [39543556, 39543766], [39554873, 39557494]] [[39543560, 39543766], [39554873, 39554913]]
ENST00000436143 [[39509170, 39509231], [39521530, 39521614], [39540957, 39541023], [39541357, 39541558], [39543556, 39543715]] [[39541529, 39541558], [39543556, 39543715]]
ENST00000441980 [[39509170, 39509231], [39540957, 39541023], [39543556, 39543766], [39544025, 39544518]] [[39543560, 39543766], [39544025, 39544371]]
ENST00000311042 [[39509170, 39509231], [39521530, 39521614], [39543556, 39543766], [39543953, 39544367], [39554873, 39557492]] [[39543560, 39543766], [39543953, 39544367], [39554873, 39554874]]
ENST00000452959 [[39509194, 39509231], [39521530, 39521614], [39543556, 39543766], [39554873, 39555097], [39565733, 39565817], [39565934, 39570970]] [[39543560, 39543766], [39554873, 39554913]]
ENST00000396228 [[39521585, 39521614], [39543556, 39543766], [39554873, 39555097], [39565733, 39565817], [39565934, 39567101]] [[39543560, 39543766], [39554873, 39554913]]
ENST00000424090 [[39543553, 39543766], [39544025, 39544405], [39554873, 39555097], [39565733, 39565817], [39565934, 39566373]] [[39543560, 39543766], [39544025, 39544371]]
ENST00000442631 [[39543556, 39543766], [39544025, 39544367], [39554873, 39555097], [39565733, 39565817], [39565934, 39565985]] [[39543560, 39543766], [39544025, 39544367], [39554873, 39554874]]
ENST00000479860 [[39543705, 39543766], [39554873, 39555097], [39559213, 39559276], [39565733, 39565817], [39565934, 39566047]] None
NR_103506 [[39509063, 39509231], [39521530, 39521614], [39554873, 39557494]] None
NM_182935 [[39509063, 39509231], [39521530, 39521614], [39543556, 39543766], [39554873, 39557494]] [[39543560, 39543766], [39554873, 39554913]]
NM_001278322 [[39509063, 39509231], [39521530, 39521614], [39543556, 39543766], [39543953, 39544367], [39554873, 39557494]] [[39543560, 39543766], [39543953, 39544367], [39554873, 39554874]]
NR_003090 [[39509063, 39509231], [39521530, 39521614], [39543556, 39543766], [39554873, 39555097], [39565733, 39565817], [39565934, 39570988]] None
NR_103504 [[39509063, 39509231], [39521530, 39521614], [39543556, 39543766], [39544025, 39544367], [39554873, 39555097], [39565733, 39565817], [39565934, 39570988]] None
NR_103505 [[39509063, 39509231], [39521530, 39521614], [39543556, 39543766], [39544025, 39544405], [39554873, 39555097], [39565733, 39565817], [39565934, 39570988]] None
NM_001278323 [[39543556, 39543766], [39544025, 39544518]] [[39543560, 39543766], [39544025, 39544371]]
Promoter
Chrom Start End Description
chr3 39509089 39509101 CAGE_peak_2_at_MOBP_5end
chr3 39509163 39509180 CAGE_peak_1_at_MOBP_5end
chr3 39543601 39543632 CAGE_peak_3_at_MOBP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I039145 39145744 39156449 2.84 [{'connected_gene': 'CSRNP1', 'score': 562.05}, {'connected_gene': 'ENSG00000283849', 'score': 550.77}, {'connected_gene': 'LOC101928263', 'score': 550.77}, {'connected_gene': 'GORASP1', 'score': 52.31}, {'connected_gene': 'TTC21A', 'score': 23.41}, {'connected_gene': 'SNORA62', 'score': 22.39}, {'connected_gene': 'CX3CR1', 'score': 22.21}, {'connected_gene': 'XIRP1', 'score': 11.47}, {'connected_gene': 'MOBP', 'score': 11.35}, {'connected_gene': 'ACVR2B-AS1', 'score': 9.87}, {'connected_gene': 'OXSR1', 'score': 9.69}, {'connected_gene': 'EXOG', 'score': 4.75}, {'connected_gene': 'WDR48', 'score': 1.88}, {'connected_gene': 'ENSG00000284669', 'score': 0.77}]
chr3 GH03I039468 39468068 39468560 0.31 [{'connected_gene': 'MOBP', 'score': 550.77}, {'connected_gene': 'RPSA', 'score': 4.83}, {'connected_gene': 'NFU1P1', 'score': 0.1}]
chr3 GH03I039479 39479217 39482332 0.46 [{'connected_gene': 'MOBP', 'score': 28.27}, {'connected_gene': 'RPSA', 'score': 8.72}, {'connected_gene': 'NFU1P1', 'score': 0.1}]
chr3 GH03I039488 39488057 39490067 0.38 [{'connected_gene': 'MOBP', 'score': 20.01}, {'connected_gene': 'RPSA', 'score': 8.93}, {'connected_gene': 'NFU1P1', 'score': 0.1}]
chr3 GH03I039490 39490511 39494510 0.52 [{'connected_gene': 'MOBP', 'score': 27.37}, {'connected_gene': 'RPSA', 'score': 11.15}, {'connected_gene': 'NFU1P1', 'score': 0.1}]
chr3 GH03I039503 39503629 39504549 0.31 [{'connected_gene': 'MOBP', 'score': 11.36}, {'connected_gene': 'RPSA', 'score': 5.12}, {'connected_gene': 'NFU1P1', 'score': 0.12}]
chr3 GH03I039485 39485639 39485808 0.81 [{'connected_gene': 'MOBP', 'score': 6.88}, {'connected_gene': 'TTC21A', 'score': 3.16}, {'connected_gene': 'CX3CR1', 'score': 2.03}, {'connected_gene': 'NFU1P1', 'score': 0.1}]
chr3 GH03I039458 39458697 39458967 0.75 [{'connected_gene': 'MOBP', 'score': 18.2}, {'connected_gene': 'CX3CR1', 'score': 15.22}, {'connected_gene': 'RPSA', 'score': 11.02}, {'connected_gene': 'SNORA6', 'score': 11.02}, {'connected_gene': 'TTC21A', 'score': 4.67}, {'connected_gene': 'LOC105377038', 'score': 0.77}]
chr3 GH03I039460 39460840 39460932 0.45 [{'connected_gene': 'MOBP', 'score': 19.72}, {'connected_gene': 'CX3CR1', 'score': 1.45}, {'connected_gene': 'MYRIP', 'score': 1.44}, {'connected_gene': 'LOC105377038', 'score': 0.77}]
chr3 GH03I039470 39470965 39471149 0.48 [{'connected_gene': 'MOBP', 'score': 17.4}, {'connected_gene': 'CX3CR1', 'score': 12.17}, {'connected_gene': 'MYRIP', 'score': 2.17}, {'connected_gene': 'NFU1P1', 'score': 0.09}]
chr3 GH03I039505 39505821 39507128 0.51 [{'connected_gene': 'MOBP', 'score': 11.36}, {'connected_gene': 'CCR8', 'score': 5.05}, {'connected_gene': 'RPSA', 'score': 4.69}, {'connected_gene': 'HNRNPA1P21', 'score': 4.53}, {'connected_gene': 'NFU1P1', 'score': 0.12}]
chr3 GH03I039531 39531330 39532286 0.77 [{'connected_gene': 'MOBP', 'score': 10.78}, {'connected_gene': 'CCR8', 'score': 5.03}, {'connected_gene': 'RPSA', 'score': 4.5}, {'connected_gene': 'NFU1P1', 'score': 0.14}]
chr3 GH03I040044 40043598 40045859 0.69 [{'connected_gene': 'MOBP', 'score': 5.3}, {'connected_gene': 'GC03M040043', 'score': 0.44}, {'connected_gene': 'RNU4-56P', 'score': 0.19}, {'connected_gene': 'MYRIP', 'score': 0.07}]
chr3 GH03I040115 40115670 40117887 0.66 [{'connected_gene': 'MOBP', 'score': 5.3}, {'connected_gene': 'GC03M040043', 'score': 0.21}, {'connected_gene': 'LOC105377645', 'score': 0.18}, {'connected_gene': 'MYRIP', 'score': 0.06}]
chr3 GH03I039465 39465107 39465637 0.2 [{'connected_gene': 'MOBP', 'score': 550.77}, {'connected_gene': 'LOC105377038', 'score': 0.44}]
chr3 GH03I039467 39467631 39467690 0.81 [{'connected_gene': 'MOBP', 'score': 550.77}, {'connected_gene': 'NFU1P1', 'score': 0.1}]
chr3 GH03I039502 39502401 39502600 0.69 [{'connected_gene': 'MOBP', 'score': 0.28}, {'connected_gene': 'NFU1P1', 'score': 0.11}]
chr3 GH03I039464 39464453 39464910 0.2 [{'connected_gene': 'RPSA', 'score': 5.04}, {'connected_gene': 'MOBP', 'score': 0.77}, {'connected_gene': 'LOC105377038', 'score': 0.44}]
chr3 GH03I039463 39463677 39464119 0.2 [{'connected_gene': 'RPSA', 'score': 8.47}, {'connected_gene': 'MOBP', 'score': 0.77}, {'connected_gene': 'LOC105377038', 'score': 0.44}]
chr3 GH03I039462 39462221 39463298 0.2 [{'connected_gene': 'RPSA', 'score': 4.31}, {'connected_gene': 'MOBP', 'score': 0.77}, {'connected_gene': 'LOC105377038', 'score': 0.44}]
chr3 GH03I039473 39473262 39474127 0.63 [{'connected_gene': 'RPSA', 'score': 8.76}, {'connected_gene': 'MOBP', 'score': 0.44}, {'connected_gene': 'NFU1P1', 'score': 0.1}]
chr3 GH03I039469 39469721 39470397 0.2 [{'connected_gene': 'RPSA', 'score': 8.49}, {'connected_gene': 'MOBP', 'score': 0.77}, {'connected_gene': 'NFU1P1', 'score': 0.09}]
chr3 GH03I039471 39471380 39472072 0.31 [{'connected_gene': 'RPSA', 'score': 8.74}, {'connected_gene': 'MOBP', 'score': 0.77}, {'connected_gene': 'NFU1P1', 'score': 0.09}]
chr3 GH03I039496 39496566 39500388 0.69 [{'connected_gene': 'RPSA', 'score': 5.86}, {'connected_gene': 'MOBP', 'score': 0.29}, {'connected_gene': 'NFU1P1', 'score': 0.11}]
chr3 GH03I039446 39446486 39447641 0.56 [{'connected_gene': 'RPSA', 'score': 23.55}, {'connected_gene': 'CX3CR1', 'score': 13.92}, {'connected_gene': 'MOBP', 'score': 12.88}, {'connected_gene': 'SNORA6', 'score': 11.06}, {'connected_gene': 'LOC105377038', 'score': 0.44}, {'connected_gene': 'GC03P039422', 'score': 0.28}]
chr3 GH03I039512 39512926 39516096 0.31 [{'connected_gene': 'RPSA', 'score': 5.11}, {'connected_gene': 'CCR8', 'score': 5.04}, {'connected_gene': 'MOBP', 'score': 0.25}, {'connected_gene': 'NFU1P1', 'score': 0.13}]
chr3 GH03I039638 39638304 39640776 1.38 [{'connected_gene': 'ZNF619', 'score': 10.89}, {'connected_gene': 'RPL14', 'score': 10.38}, {'connected_gene': 'CSRNP1', 'score': 6.02}, {'connected_gene': 'NFU1P1', 'score': 0.77}, {'connected_gene': 'MOBP', 'score': 0.09}]
chr3 GH03I040452 40452047 40454304 1.75 [{'connected_gene': 'ENTPD3-AS1', 'score': 579.72}, {'connected_gene': 'RNU5B-2P', 'score': 10.65}, {'connected_gene': 'RPL14', 'score': 5.77}, {'connected_gene': 'MOBP', 'score': 4.81}, {'connected_gene': 'GC03P040390', 'score': 0.21}]
chr3 GH03I039106 39106225 39108964 2 [{'connected_gene': 'TTC21A', 'score': 568.64}, {'connected_gene': 'GORASP1', 'score': 563.62}, {'connected_gene': 'CX3CR1', 'score': 21.66}, {'connected_gene': 'CSRNP1', 'score': 11.68}, {'connected_gene': 'MOBP', 'score': 11.34}, {'connected_gene': 'SCN11A', 'score': 4.29}, {'connected_gene': 'PIR55888', 'score': 0.44}, {'connected_gene': 'GC03M039097', 'score': 0.44}]
chr3 GH03I039274 39274476 39274824 0.53 [{'connected_gene': 'XIRP1', 'score': 11.81}, {'connected_gene': 'TTC21A', 'score': 10.76}, {'connected_gene': 'GORASP1', 'score': 10.76}, {'connected_gene': 'CCR8', 'score': 10.15}, {'connected_gene': 'HNRNPA1P21', 'score': 10.14}, {'connected_gene': 'RNU6-1227P', 'score': 8.73}, {'connected_gene': 'MOBP', 'score': 7.22}, {'connected_gene': 'SCN10A', 'score': 3.91}, {'connected_gene': 'CX3CR1', 'score': 0.44}, {'connected_gene': 'LOC102724104', 'score': 0.26}]
chr3 GH03I039433 39433401 39434000 0.31 [{'connected_gene': 'CX3CR1', 'score': 14.6}, {'connected_gene': 'MOBP', 'score': 11.23}, {'connected_gene': 'RPSA', 'score': 10.01}, {'connected_gene': 'GC03P039422', 'score': 0.34}, {'connected_gene': 'LOC105377038', 'score': 0.34}]
chr3 GH03I039220 39220841 39221049 0.69 [{'connected_gene': 'CX3CR1', 'score': 16.22}, {'connected_gene': 'XIRP1', 'score': 12.11}, {'connected_gene': 'CSRNP1', 'score': 10.83}, {'connected_gene': 'CCR8', 'score': 10.49}, {'connected_gene': 'HNRNPA1P21', 'score': 10.48}, {'connected_gene': 'MOBP', 'score': 3.74}, {'connected_gene': 'DSTNP4', 'score': 0.44}, {'connected_gene': 'LOC102724104', 'score': 0.39}]
chr3 GH03I039331 39331142 39331400 0.69 [{'connected_gene': 'CCR8', 'score': 552.71}, {'connected_gene': 'MOBP', 'score': 1.36}, {'connected_gene': 'HNRNPA1P21', 'score': 0.77}]
chr3 GH03I039518 39518290 39520938 0.2 [{'connected_gene': 'CCR8', 'score': 7.25}, {'connected_gene': 'RPSA', 'score': 4.44}, {'connected_gene': 'MOBP', 'score': 0.23}, {'connected_gene': 'NFU1P1', 'score': 0.13}]
chr3 GH03I039374 39374587 39374705 0.43 [{'connected_gene': 'LOC105377037', 'score': 550.77}, {'connected_gene': 'TTC21A', 'score': 19.89}, {'connected_gene': 'MOBP', 'score': 1.38}, {'connected_gene': 'GC03P039372', 'score': 0.77}, {'connected_gene': 'LOC105377644', 'score': 0.44}]
chr3 GH03I039577 39577403 39578404 0.31 [{'connected_gene': 'NFU1P1', 'score': 0.2}, {'connected_gene': 'MOBP', 'score': 0.14}]
chr3 GH03I039637 39637800 39638201 0.83 [{'connected_gene': 'NFU1P1', 'score': 0.44}, {'connected_gene': 'MOBP', 'score': 0.09}]
chr3 GH03I040054 40054489 40055171 0.31 [{'connected_gene': 'GC03M040043', 'score': 550.77}, {'connected_gene': 'MOBP', 'score': 5.69}, {'connected_gene': 'LOC105377645', 'score': 0.11}, {'connected_gene': 'MYRIP', 'score': 0.07}]

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