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
ENST00000354886 [[61447831, 61448100], [61449225, 61449356], [61451447, 61451521], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61503776, 61503859], [61504342, 61504401], [61509864, 61509930], [61510167, 61510221], [61512063, 61512143], [61512784, 61512885], [61517229, 61517354], [61518504, 61518649], [61518758, 61518853], [61545527, 61545645], [61550272, 61550450]] [[61447995, 61448100], [61449225, 61449356], [61451447, 61451521], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61503776, 61503859], [61504342, 61504401], [61509864, 61509930], [61510167, 61510221], [61512063, 61512143], [61512784, 61512885], [61517229, 61517354], [61518504, 61518649], [61518758, 61518853], [61545527, 61545645], [61550272, 61550430]]
ENST00000267488 [[61447879, 61448100], [61449225, 61449356], [61451447, 61451521], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61503776, 61503859], [61504342, 61504401], [61509864, 61509930], [61510167, 61510221], [61512063, 61512143], [61512784, 61512885], [61517229, 61517354], [61518504, 61518649], [61518758, 61518853], [61519066, 61519348]] [[61447995, 61448100], [61449225, 61449356], [61451447, 61451521], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61503776, 61503859], [61504342, 61504401], [61509864, 61509930], [61510167, 61510221], [61512063, 61512143], [61512784, 61512885], [61517229, 61517354], [61518504, 61518649], [61518758, 61518853], [61519066, 61519147]]
ENST00000525723 [[61447943, 61448405], [61449225, 61449356], [61451447, 61451521], [61453769, 61453875], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61500736, 61500831], [61503776, 61503859], [61504342, 61504401], [61509864, 61509930], [61510167, 61510221], [61512063, 61512143], [61512784, 61512885], [61517229, 61517354], [61518504, 61518649], [61518758, 61518853], [61519066, 61519703], [61545527, 61545645], [61550267, 61550451]] [[61447995, 61448217]]
ENST00000491344 [[61447994, 61448100], [61449225, 61449356], [61451447, 61451521], [61453769, 61453875], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61500736, 61500831], [61503776, 61503859], [61504342, 61504401], [61509864, 61509930], [61510167, 61510221], [61512063, 61512143], [61512784, 61512885], [61517229, 61517354], [61518504, 61518649], [61518758, 61518853], [61519066, 61519703], [61540565, 61540659], [61545547, 61545645], [61550267, 61550447]] [[61447995, 61448100], [61449225, 61449356], [61451447, 61451521], [61453769, 61453786]]
ENST00000451406 [[61448010, 61448100], [61449225, 61449356], [61451447, 61451521], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61503776, 61503859], [61504342, 61504401], [61509864, 61509930], [61510167, 61510221], [61512063, 61512143], [61512784, 61512885], [61517229, 61517354], [61518504, 61518649], [61518758, 61518853], [61545527, 61545645], [61550272, 61550447]] [[61448010, 61448100], [61449225, 61449356], [61451447, 61451521], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61503776, 61503859], [61504342, 61504401], [61509864, 61509930], [61510167, 61510221], [61512063, 61512143], [61512784, 61512885], [61517229, 61517354], [61518504, 61518649], [61518758, 61518853], [61545527, 61545645], [61550272, 61550430]]
ENST00000527591 [[61448154, 61448405], [61449225, 61449356], [61451447, 61451521], [61453769, 61453875], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61503776, 61503859], [61504342, 61504401], [61509864, 61509930], [61510167, 61510221], [61512063, 61512143], [61512784, 61512885], [61514965, 61515015], [61517229, 61517354], [61518504, 61518649], [61518758, 61518853], [61519066, 61519163]] [[61448154, 61448217]]
ENST00000529345 [[61448161, 61448409], [61449225, 61449356], [61451447, 61451521], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61503776, 61503859], [61504342, 61504401], [61509864, 61509930], [61510167, 61510221], [61512063, 61512143], [61512784, 61512885], [61517229, 61517354], [61518504, 61518649], [61518758, 61518853], [61545527, 61545645], [61550267, 61550450]] [[61448161, 61448217]]
ENST00000456840 [[61448161, 61448409], [61449225, 61449356], [61451447, 61451521], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61503776, 61503859], [61504342, 61504401], [61509864, 61509930], [61510167, 61510221], [61512063, 61512143], [61512784, 61512885], [61517229, 61517354], [61518504, 61518649], [61518758, 61518853], [61545527, 61545645], [61550267, 61550450]] [[61448373, 61448409], [61449225, 61449356], [61451447, 61451521], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61503776, 61503859], [61504342, 61504401], [61509864, 61509930], [61510167, 61510221], [61512063, 61512143], [61512784, 61512885], [61517229, 61517354], [61518504, 61518649], [61518758, 61518853], [61545527, 61545645], [61550267, 61550392]]
ENST00000524402 [[61448913, 61448961], [61449225, 61449356], [61451447, 61451521], [61453769, 61453875], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61500736, 61500831], [61503776, 61503859], [61504342, 61504401]] [[61448913, 61448961], [61449225, 61449356], [61451447, 61451521], [61453769, 61453786]]
ENST00000526105 [[61449082, 61449356], [61451447, 61451521], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61503776, 61503836]] [[61449282, 61449356], [61451447, 61451521], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61503776, 61503836]]
ENST00000528350 [[61449274, 61449356], [61451447, 61451521], [61453769, 61453875], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61504342, 61504401], [61509864, 61509926]] [[61449274, 61449356], [61451447, 61451521], [61453769, 61453786]]
ENST00000533744 [[61449274, 61449356], [61451447, 61451521], [61497162, 61497241], [61503776, 61503859], [61504342, 61504401], [61509864, 61509930], [61510167, 61510221], [61512063, 61512143], [61512784, 61512790]] [[61449274, 61449356], [61451447, 61451521], [61497162, 61497241], [61503776, 61503859], [61504342, 61504401], [61509864, 61509930], [61510167, 61510221], [61512063, 61512143], [61512784, 61512790]]
ENST00000554072 [[61451481, 61451521], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61500736, 61501017]] None
ENST00000554304 [[61447950, 61448100], [61449225, 61449356], [61451447, 61451521], [61471139, 61471355]] None
ENST00000532148 [[61447954, 61448100], [61449225, 61449356], [61451447, 61451521], [61468746, 61468954]] None
ENST00000525585 [[61449261, 61449356], [61451447, 61451521], [61453769, 61454308]] None
ENST00000534758 [[61486253, 61486298], [61497162, 61497757]] None
ENST00000529212 [[61509867, 61509930], [61512063, 61512143], [61512784, 61512885], [61517229, 61517354], [61518504, 61518649], [61518758, 61518853], [61519066, 61519179]] [[61509867, 61509930], [61512063, 61512143], [61512784, 61512885], [61517229, 61517354], [61518504, 61518649], [61518758, 61518853], [61519066, 61519147]]
ENST00000526539 [[61512824, 61512885], [61514868, 61515015], [61517229, 61517354], [61518504, 61518649], [61518758, 61518853], [61545547, 61545645], [61550267, 61550351]] [[61512824, 61512885], [61514868, 61514873]]
ENST00000556938 [[61518532, 61518649], [61518723, 61519177]] None
ENST00000554498 [[61518603, 61518649], [61518758, 61519182]] None
NM_153811 [[61447831, 61448100], [61449225, 61449356], [61451447, 61451521], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61503776, 61503859], [61504342, 61504401], [61509864, 61509930], [61510167, 61510221], [61512063, 61512143], [61512784, 61512885], [61517229, 61517354], [61518504, 61518649], [61518758, 61518853], [61519066, 61519263]] [[61447995, 61448100], [61449225, 61449356], [61451447, 61451521], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61503776, 61503859], [61504342, 61504401], [61509864, 61509930], [61510167, 61510221], [61512063, 61512143], [61512784, 61512885], [61517229, 61517354], [61518504, 61518649], [61518758, 61518853], [61519066, 61519147]]
NM_001172702 [[61447831, 61448100], [61449225, 61449356], [61451447, 61451521], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61503776, 61503859], [61504342, 61504401], [61509864, 61509930], [61510167, 61510221], [61512063, 61512143], [61512784, 61512885], [61517229, 61517354], [61518504, 61518649], [61518758, 61518853], [61545527, 61545645], [61550272, 61550451]] [[61447995, 61448100], [61449225, 61449356], [61451447, 61451521], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61503776, 61503859], [61504342, 61504401], [61509864, 61509930], [61510167, 61510221], [61512063, 61512143], [61512784, 61512885], [61517229, 61517354], [61518504, 61518649], [61518758, 61518853], [61545527, 61545645], [61550272, 61550430]]
NR_033344 [[61447964, 61448409], [61449225, 61449356], [61451447, 61451521], [61482621, 61482674], [61486258, 61486298], [61497162, 61497241], [61503776, 61503859], [61504342, 61504401], [61509864, 61509930], [61510167, 61510221], [61512063, 61512143], [61512784, 61512885], [61517229, 61517354], [61518504, 61518649], [61518758, 61518853], [61545527, 61545645], [61550267, 61550451]] None
Promoter
Chrom Start End Description
chr14 61447832 61447878 CAGE_peak_2_at_SLC38A6_5end
chr14 61447901 61447926 CAGE_peak_3_at_SLC38A6_5end
chr14 61447927 61447983 CAGE_peak_1_at_SLC38A6_5end
chr14 61448920 61448942 CAGE_peak_4_at_SLC38A6_5end
chr14 61449076 61449109 CAGE_peak_12_at_SLC38A6_5end
chr14 61449197 61449207 CAGE_peak_15_at_SLC38A6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I060640 60640562 60659805 2.85 [{'connected_gene': 'SIX1', 'score': 550.44}, {'connected_gene': 'TRMT5', 'score': 45.64}, {'connected_gene': 'SLC38A6', 'score': 31.46}, {'connected_gene': 'PCNX4', 'score': 29.74}, {'connected_gene': 'C14orf39', 'score': 25.92}, {'connected_gene': 'LOC101927702', 'score': 12.32}, {'connected_gene': 'SIX4', 'score': 10.84}, {'connected_gene': 'TMEM30B', 'score': 10.66}, {'connected_gene': 'MNAT1', 'score': 10.62}, {'connected_gene': 'SIX6', 'score': 9.93}, {'connected_gene': 'RNU6-398P', 'score': 9.09}, {'connected_gene': 'PPM1A', 'score': 5.21}, {'connected_gene': 'GC14P060643', 'score': 0.44}, {'connected_gene': 'LOC105378189', 'score': 0.44}, {'connected_gene': 'SALRNA1', 'score': 0.39}, {'connected_gene': 'GC14M060376', 'score': 0.19}]
chr14 GH14I061024 61024863 61026805 0.87 [{'connected_gene': 'SIX1', 'score': 15.24}, {'connected_gene': 'TRMT5', 'score': 10.75}, {'connected_gene': 'SLC38A6', 'score': 10.75}, {'connected_gene': 'RNU6-398P', 'score': 10.55}, {'connected_gene': 'PRKCH', 'score': 10.41}, {'connected_gene': 'LOC101927756', 'score': 0.34}]
chr14 GH14I061080 61080221 61081493 0.56 [{'connected_gene': 'SIX1', 'score': 4.7}, {'connected_gene': 'LOC105378182', 'score': 0.29}, {'connected_gene': 'LOC101927756', 'score': 0.29}, {'connected_gene': 'SLC38A6', 'score': 0.15}]
chr14 GH14I061098 61098239 61099954 0.31 [{'connected_gene': 'TRMT5', 'score': 9.7}, {'connected_gene': 'SLC38A6', 'score': 9.7}, {'connected_gene': 'SIX1', 'score': 5.2}, {'connected_gene': 'PPM1A', 'score': 5.15}, {'connected_gene': 'LOC105378182', 'score': 0.39}, {'connected_gene': 'LOC101927756', 'score': 0.25}]
chr14 GH14I060979 60979279 60983141 2.07 [{'connected_gene': 'TRMT5', 'score': 550.77}, {'connected_gene': 'SLC38A6', 'score': 550.77}, {'connected_gene': 'ENSG00000258892', 'score': 0.15}]
chr14 GH14I061237 61237528 61237592 0.2 [{'connected_gene': 'PRKCH', 'score': 11.25}, {'connected_gene': 'SIX1', 'score': 10.48}, {'connected_gene': 'SIX4', 'score': 9.65}, {'connected_gene': 'TRMT5', 'score': 9.42}, {'connected_gene': 'SLC38A6', 'score': 9.42}, {'connected_gene': 'C14orf39', 'score': 8.77}, {'connected_gene': 'TMEM30B', 'score': 0.26}]
chr14 GH14I061236 61236743 61236892 0.46 [{'connected_gene': 'PRKCH', 'score': 11.26}, {'connected_gene': 'SIX1', 'score': 10.48}, {'connected_gene': 'SIX4', 'score': 9.65}, {'connected_gene': 'TRMT5', 'score': 9.42}, {'connected_gene': 'SLC38A6', 'score': 9.42}, {'connected_gene': 'C14orf39', 'score': 8.77}, {'connected_gene': 'TMEM30B', 'score': 0.25}]
chr14 GH14I061320 61320635 61354190 2.77 [{'connected_gene': 'PRKCH', 'score': 583.57}, {'connected_gene': 'TRMT5', 'score': 26.02}, {'connected_gene': 'TMEM30B', 'score': 16.38}, {'connected_gene': 'SLC38A6', 'score': 9.78}, {'connected_gene': 'LOC105370527', 'score': 5.58}, {'connected_gene': 'ENSG00000247287', 'score': 5.19}, {'connected_gene': 'GC14M061347', 'score': 0.11}]
chr14 GH14I061202 61202384 61204023 0.38 [{'connected_gene': 'PRKCH', 'score': 9.48}, {'connected_gene': 'TRMT5', 'score': 9.45}, {'connected_gene': 'SLC38A6', 'score': 9.45}, {'connected_gene': 'SIX4', 'score': 9.37}, {'connected_gene': 'TMEM30B', 'score': 0.18}]
chr14 GH14I061460 61460632 61463725 1.43 [{'connected_gene': 'PRKCH', 'score': 1.91}, {'connected_gene': 'HIF1A', 'score': 1.57}, {'connected_gene': 'SLC38A6', 'score': 1.09}, {'connected_gene': 'GC14M061347', 'score': 0.34}, {'connected_gene': 'ENSG00000247287', 'score': 0.12}]
chr14 GH14I061238 61238403 61239912 0.54 [{'connected_gene': 'PRKCH', 'score': 11.43}, {'connected_gene': 'TMEM30B', 'score': 11.21}, {'connected_gene': 'SIX1', 'score': 10.48}, {'connected_gene': 'SIX4', 'score': 9.76}, {'connected_gene': 'TRMT5', 'score': 9.42}, {'connected_gene': 'SLC38A6', 'score': 9.42}, {'connected_gene': 'C14orf39', 'score': 8.77}]
chr14 GH14I060989 60989218 60990228 1.19 [{'connected_gene': 'SIX4', 'score': 9.66}, {'connected_gene': 'SIX1', 'score': 4.53}, {'connected_gene': 'SLC38A6', 'score': 2.67}, {'connected_gene': 'TRMT5', 'score': 0.44}, {'connected_gene': 'LOC101927756', 'score': 0.22}]
chr14 GH14I060986 60986001 60986200 0.31 [{'connected_gene': 'SIX4', 'score': 9.6}, {'connected_gene': 'TRMT5', 'score': 0.77}, {'connected_gene': 'SLC38A6', 'score': 0.77}, {'connected_gene': 'LOC101927756', 'score': 0.21}]
chr14 GH14I060983 60983801 60984200 0.31 [{'connected_gene': 'SIX4', 'score': 8.72}, {'connected_gene': 'TRMT5', 'score': 0.77}, {'connected_gene': 'SLC38A6', 'score': 0.77}, {'connected_gene': 'LOC101927756', 'score': 0.2}]
chr14 GH14I060987 60987001 60987200 0.2 [{'connected_gene': 'SIX4', 'score': 9.67}, {'connected_gene': 'TRMT5', 'score': 0.44}, {'connected_gene': 'SLC38A6', 'score': 0.44}, {'connected_gene': 'LOC101927756', 'score': 0.21}]
chr14 GH14I060984 60984801 60985200 0.2 [{'connected_gene': 'SIX4', 'score': 8.72}, {'connected_gene': 'TRMT5', 'score': 0.77}, {'connected_gene': 'SLC38A6', 'score': 0.77}, {'connected_gene': 'LOC101927756', 'score': 0.21}]
chr14 GH14I060734 60734143 60737272 2.1 [{'connected_gene': 'MNAT1', 'score': 550.77}, {'connected_gene': 'TRMT5', 'score': 20.66}, {'connected_gene': 'PCNX4', 'score': 11.44}, {'connected_gene': 'SLC38A6', 'score': 10.07}, {'connected_gene': 'RBM8B', 'score': 9.72}, {'connected_gene': 'RNU6-398P', 'score': 9.67}, {'connected_gene': 'MAD2L1P1', 'score': 0.26}]
chr14 GH14I060760 60760058 60762095 0.66 [{'connected_gene': 'MNAT1', 'score': 11.19}, {'connected_gene': 'SIX4', 'score': 11.01}, {'connected_gene': 'TRMT5', 'score': 9.91}, {'connected_gene': 'SLC38A6', 'score': 9.91}, {'connected_gene': 'MAD2L1P1', 'score': 0.37}]
chr14 GH14I060819 60819683 60819852 0.78 [{'connected_gene': 'MNAT1', 'score': 10.58}, {'connected_gene': 'SLC38A6', 'score': 5.43}, {'connected_gene': 'MAD2L1P1', 'score': 0.28}, {'connected_gene': 'ENSG00000258892', 'score': 0.22}]
chr14 GH14I061660 61660049 61664535 1.4 [{'connected_gene': 'FLJ22447', 'score': 18.79}, {'connected_gene': 'HIF1A', 'score': 17.28}, {'connected_gene': 'SLC38A6', 'score': 13.35}, {'connected_gene': 'TRMT5', 'score': 11.16}, {'connected_gene': 'LINC01303', 'score': 10.98}, {'connected_gene': 'GC14P061694', 'score': 0.29}, {'connected_gene': 'GC14P061590', 'score': 0.19}]
chr14 GH14I061551 61551080 61578305 1.85 [{'connected_gene': 'HIF1A', 'score': 23.04}, {'connected_gene': 'SLC38A6', 'score': 21.93}, {'connected_gene': 'TRMT5', 'score': 11.47}, {'connected_gene': 'SIX4', 'score': 10.52}, {'connected_gene': 'FLJ22447', 'score': 5.91}, {'connected_gene': 'LINC01303', 'score': 5.81}, {'connected_gene': 'HIF1A-AS2', 'score': 4.45}, {'connected_gene': 'LOC105370525', 'score': 0.37}, {'connected_gene': 'ENSG00000258989', 'score': 0.28}]
chr14 GH14I061100 61100579 61105226 1.78 [{'connected_gene': 'SLC38A6', 'score': 12.02}, {'connected_gene': 'TRMT5', 'score': 10.09}, {'connected_gene': 'C14orf39', 'score': 5.99}, {'connected_gene': 'SIX1', 'score': 5.14}, {'connected_gene': 'PPM1A', 'score': 4.63}, {'connected_gene': 'LOC105378182', 'score': 0.39}, {'connected_gene': 'LOC101927756', 'score': 0.23}]
chr14 GH14I060756 60756115 60759726 0.8 [{'connected_gene': 'SLC38A6', 'score': 15.03}, {'connected_gene': 'MNAT1', 'score': 11.22}, {'connected_gene': 'SIX4', 'score': 11.03}, {'connected_gene': 'TRMT5', 'score': 9.91}, {'connected_gene': 'MAD2L1P1', 'score': 0.34}]
chr14 GH14I061033 61033243 61033372 0.43 [{'connected_gene': 'LOC101927756', 'score': 0.37}, {'connected_gene': 'TRMT5', 'score': 0.23}, {'connected_gene': 'SLC38A6', 'score': 0.23}]
chr14 GH14I061078 61077238 61077359 0.2 [{'connected_gene': 'LOC101927756', 'score': 0.31}, {'connected_gene': 'LOC105378182', 'score': 0.28}, {'connected_gene': 'SLC38A6', 'score': 0.15}]
chr14 GH14I061077 61077792 61078658 0.2 [{'connected_gene': 'LOC101927756', 'score': 0.31}, {'connected_gene': 'LOC105378182', 'score': 0.28}, {'connected_gene': 'SLC38A6', 'score': 0.15}]

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