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
ENST00000558518 [[11200037, 11200291], [11210898, 11211021], [11213339, 11213462], [11215895, 11216276], [11217240, 11217363], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11231045, 11231198], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241956, 11242839]] [[11200224, 11200291], [11210898, 11211021], [11213339, 11213462], [11215895, 11216276], [11217240, 11217363], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11231045, 11231198], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241956, 11241992]]
ENST00000557933 [[11200137, 11200291], [11210898, 11211021], [11213339, 11213462], [11215895, 11216276], [11217240, 11217363], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11231045, 11231198], [11233849, 11234020], [11238683, 11238761], [11240126, 11240346], [11241956, 11242201]] [[11200224, 11200291], [11210898, 11211021], [11213339, 11213462], [11215895, 11216276], [11217240, 11217363], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11231045, 11231198], [11233849, 11234020], [11238683, 11238761], [11240126, 11240346], [11241956, 11242194]]
ENST00000560502 [[11200138, 11200291], [11210898, 11211254]] None
ENST00000557958 [[11200138, 11200291], [11210898, 11211021], [11213339, 11214944]] None
ENST00000455727 [[11200138, 11200291], [11210898, 11211021], [11213339, 11213462], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11231045, 11231198], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241956, 11242160]] [[11200224, 11200291], [11210898, 11211021], [11213339, 11213462], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11231045, 11231198], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241956, 11241992]]
ENST00000535915 [[11200138, 11200291], [11210898, 11211021], [11215895, 11216276], [11217240, 11217363], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11231045, 11231198], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241956, 11242214]] [[11200224, 11200291], [11210898, 11211021], [11215895, 11216276], [11217240, 11217363], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11231045, 11231198], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241956, 11241992]]
ENST00000545707 [[11200138, 11200291], [11210898, 11211021], [11213339, 11213462], [11217240, 11217363], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241956, 11242286]] [[11200224, 11200291], [11210898, 11211021], [11213339, 11213462], [11217240, 11217363], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241956, 11241992]]
ENST00000558013 [[11200153, 11200291], [11210898, 11211021], [11213339, 11213462], [11215895, 11216276], [11217240, 11217363], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11231045, 11231198], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241962, 11242488]] [[11200224, 11200291], [11210898, 11211021], [11213339, 11213462], [11215895, 11216276], [11217240, 11217363], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11231045, 11231198], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241962, 11241992]]
ENST00000252444 [[11201274, 11201595], [11210898, 11211021], [11213339, 11213462], [11215895, 11216276], [11217240, 11217363], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11231045, 11231198], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241956, 11244492]] [[11201274, 11201595], [11210898, 11211021], [11213339, 11213462], [11215895, 11216276], [11217240, 11217363], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11231045, 11231198], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241956, 11241992]]
ENST00000560467 [[11215982, 11216276], [11217240, 11217363], [11218067, 11218190], [11222189, 11222315], [11223953, 11224125], [11224210, 11224300]] [[11215982, 11216276], [11217240, 11217363], [11218067, 11218190], [11222189, 11222315], [11223953, 11224125], [11224210, 11224300]]
ENST00000558528 [[11217031, 11217363], [11218067, 11218191]] None
ENST00000560173 [[11221388, 11221447], [11222189, 11222315], [11223953, 11224157]] None
ENST00000559340 [[11224046, 11224125], [11224210, 11224438], [11226769, 11226888], [11230767, 11230909], [11231045, 11231082]] [[11224046, 11224125], [11224210, 11224438], [11226769, 11226888], [11230767, 11230853]]
ENST00000560628 [[11238222, 11238330], [11243770, 11244197]] None
NM_001195799 [[11200037, 11200291], [11210898, 11211021], [11215895, 11216276], [11217240, 11217363], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11231045, 11231198], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241956, 11244506]] [[11200224, 11200291], [11210898, 11211021], [11215895, 11216276], [11217240, 11217363], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11231045, 11231198], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241956, 11241992]]
NM_001195800 [[11200037, 11200291], [11210898, 11211021], [11213339, 11213462], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11231045, 11231198], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241956, 11244506]] [[11200224, 11200291], [11210898, 11211021], [11213339, 11213462], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11231045, 11231198], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241956, 11241992]]
NM_001195803 [[11200037, 11200291], [11210898, 11211021], [11213339, 11213462], [11217240, 11217363], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241956, 11244506]] [[11200224, 11200291], [11210898, 11211021], [11213339, 11213462], [11217240, 11217363], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241956, 11241992]]
NM_001195798 [[11200037, 11200291], [11210898, 11211021], [11213339, 11213462], [11215895, 11216276], [11217240, 11217363], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11231045, 11231198], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241962, 11244506]] [[11200224, 11200291], [11210898, 11211021], [11213339, 11213462], [11215895, 11216276], [11217240, 11217363], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11231045, 11231198], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241962, 11241992]]
NM_000527 [[11200037, 11200291], [11210898, 11211021], [11213339, 11213462], [11215895, 11216276], [11217240, 11217363], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11231045, 11231198], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241956, 11244506]] [[11200224, 11200291], [11210898, 11211021], [11213339, 11213462], [11215895, 11216276], [11217240, 11217363], [11218067, 11218190], [11221327, 11221447], [11222189, 11222315], [11223953, 11224125], [11224210, 11224438], [11226769, 11226888], [11227534, 11227674], [11230767, 11230909], [11231045, 11231198], [11233849, 11234020], [11238683, 11238761], [11240188, 11240346], [11241956, 11241992]]
Promoter
Chrom Start End Description
chr19 11200122 11200155 CAGE_peak_1_at_LDLR_5end
chr19 11200163 11200180 CAGE_peak_2_at_LDLR_5end
chr19 11200181 11200193 CAGE_peak_4_at_LDLR_5end
chr19 11200194 11200207 CAGE_peak_5_at_LDLR_5end
chr19 11201228 11201261 CAGE_peak_3_at_LDLR_5end
chr19 11201287 11201316 CAGE_peak_9_at_LDLR_5end
chr19 11217362 11217367 CAGE_peak_6_at_LDLR_5end
chr19 11223682 11223689 CAGE_peak_7_at_LDLR_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I241529 241529916 241529955 0.22 [{'connected_gene': 'KMO', 'score': 552.18}, {'connected_gene': 'FH', 'score': 0.39}]
chr1 GH01I241507 241507499 241507805 0.22 [{'connected_gene': 'KMO', 'score': 32.33}, {'connected_gene': 'CHML', 'score': 10.89}, {'connected_gene': 'GC01M241508', 'score': 0.77}, {'connected_gene': 'FH', 'score': 0.39}, {'connected_gene': 'LOC105373230', 'score': 0.18}]
chr19 GH19I011557 11557941 11561181 2.34 [{'connected_gene': 'ELOF1', 'score': 556.5}, {'connected_gene': 'ZNF627', 'score': 550.77}, {'connected_gene': 'PRKCSH', 'score': 13.5}, {'connected_gene': 'ZNF700', 'score': 13.08}, {'connected_gene': 'ZNF136', 'score': 12.24}, {'connected_gene': 'ZNF799', 'score': 11.9}, {'connected_gene': 'ZNF564', 'score': 11.8}, {'connected_gene': 'KRI1', 'score': 11.51}, {'connected_gene': 'ZNF20', 'score': 10.73}, {'connected_gene': 'ZNF44', 'score': 10.2}, {'connected_gene': 'ILF3', 'score': 10.16}, {'connected_gene': 'CCDC159', 'score': 6.56}, {'connected_gene': 'ACP5', 'score': 4.74}, {'connected_gene': 'LDLR', 'score': 1.7}, {'connected_gene': 'GC19P011561', 'score': 0.77}, {'connected_gene': 'GC19M011558', 'score': 0.77}]
chr19 GH19I011086 11086851 11097889 2.65 [{'connected_gene': 'LDLR', 'score': 553.43}, {'connected_gene': 'ILF3', 'score': 44.17}, {'connected_gene': 'RAVER1', 'score': 36.96}, {'connected_gene': 'ZNF491', 'score': 34.6}, {'connected_gene': 'ZNF441', 'score': 29.82}, {'connected_gene': 'KRI1', 'score': 25.84}, {'connected_gene': 'ZNF700', 'score': 25.51}, {'connected_gene': 'ZNF844', 'score': 23.61}, {'connected_gene': 'ZNF627', 'score': 20.82}, {'connected_gene': 'PPAN', 'score': 20.63}, {'connected_gene': 'DNMT1', 'score': 17.96}, {'connected_gene': 'CDC37', 'score': 15.06}, {'connected_gene': 'PRKCSH', 'score': 13.42}, {'connected_gene': 'ZNF823', 'score': 13.38}, {'connected_gene': 'ZNF878', 'score': 12.72}, {'connected_gene': 'ZNF788', 'score': 12.68}, {'connected_gene': 'SWSAP1', 'score': 12.25}, {'connected_gene': 'C19orf38', 'score': 11.84}, {'connected_gene': 'ZNF433-AS1', 'score': 11.2}, {'connected_gene': 'ZNF887P', 'score': 11.15}, {'connected_gene': 'EIF3G', 'score': 10.42}, {'connected_gene': 'TYK2', 'score': 9.93}, {'connected_gene': 'QTRT1', 'score': 9.76}, {'connected_gene': 'RPL18AP13', 'score': 9.67}, {'connected_gene': 'ZNF763', 'score': 9.66}, {'connected_gene': 'CCDC159', 'score': 9.42}, {'connected_gene': 'SPC24', 'score': 4.64}, {'connected_gene': 'DNM2', 'score': 2.21}, {'connected_gene': 'ACP5', 'score': 1.95}, {'connected_gene': 'GC19M011086', 'score': 0.77}, {'connected_gene': 'MIR6886', 'score': 0.34}]
chr1 GH01I241517 241517970 241520719 2.03 [{'connected_gene': 'FH', 'score': 550.77}, {'connected_gene': 'LOC105373230', 'score': 11.61}, {'connected_gene': 'CHML', 'score': 11.16}, {'connected_gene': 'GC01P241514', 'score': 0.44}]
chr19 GH19I011102 11102503 11103526 0.49 [{'connected_gene': 'LDLR', 'score': 0.39}, {'connected_gene': 'MIR6886', 'score': 0.39}]
chr19 GH19I011099 11099489 11100720 0.69 [{'connected_gene': 'LDLR', 'score': 0.39}, {'connected_gene': 'MIR6886', 'score': 0.39}]
chr19 GH19I011115 11115818 11117092 0.43 [{'connected_gene': 'SPC24', 'score': 5.69}, {'connected_gene': 'TMEM205', 'score': 4.98}, {'connected_gene': 'MIR6886', 'score': 0.77}, {'connected_gene': 'LDLR', 'score': 0.31}]
chr19 GH19I011105 11105794 11107153 0.77 [{'connected_gene': 'SPC24', 'score': 6.06}, {'connected_gene': 'TMEM205', 'score': 4.47}, {'connected_gene': 'MIR6886', 'score': 0.44}, {'connected_gene': 'LDLR', 'score': 0.37}]
chr19 GH19I011128 11128492 11129180 0.31 [{'connected_gene': 'SPC24', 'score': 6.33}, {'connected_gene': 'MIR6886', 'score': 0.37}, {'connected_gene': 'LDLR', 'score': 0.28}]
chr19 GH19I011130 11127501 11128401 0.38 [{'connected_gene': 'SPC24', 'score': 7.22}, {'connected_gene': 'MIR6886', 'score': 0.39}, {'connected_gene': 'LDLR', 'score': 0.28}]
chr19 GH19I011126 11126405 11126914 0.67 [{'connected_gene': 'SPC24', 'score': 7.2}, {'connected_gene': 'MIR6886', 'score': 0.39}, {'connected_gene': 'LDLR', 'score': 0.28}]
chr19 GH19I011129 11129299 11132131 1.13 [{'connected_gene': 'SPC24', 'score': 7.86}, {'connected_gene': 'MIR6886', 'score': 0.37}, {'connected_gene': 'LDLR', 'score': 0.26}]
chr19 GH19I011119 11119667 11121221 0.6 [{'connected_gene': 'SPC24', 'score': 6.17}, {'connected_gene': 'MIR6886', 'score': 0.44}, {'connected_gene': 'LDLR', 'score': 0.29}]
chr1 GH01I241518 241517201 241517600 0.2 [{'connected_gene': 'CHML', 'score': 11.16}, {'connected_gene': 'FH', 'score': 0.77}, {'connected_gene': 'GC01P241514', 'score': 0.44}]
chr19 GH19I011106 11105385 11105534 0.69 [{'connected_gene': 'MIR6886', 'score': 0.44}, {'connected_gene': 'LDLR', 'score': 0.37}]
chr19 GH19I011111 11111476 11111946 0.49 [{'connected_gene': 'MIR6886', 'score': 550.77}, {'connected_gene': 'LDLR', 'score': 0.34}]
chr19 GH19I011113 11113018 11113937 0.43 [{'connected_gene': 'MIR6886', 'score': 550.77}, {'connected_gene': 'TMEM205', 'score': 4.98}, {'connected_gene': 'LDLR', 'score': 0.34}, {'connected_gene': 'SPC24', 'score': 0.26}]
chr19 GH19I011114 11114138 11114523 0.65 [{'connected_gene': 'MIR6886', 'score': 550.77}, {'connected_gene': 'SPC24', 'score': 5.89}, {'connected_gene': 'LDLR', 'score': 0.34}]
chr19 GH19I011127 11126165 11126354 0.71 [{'connected_gene': 'MIR6886', 'score': 0.39}, {'connected_gene': 'SPC24', 'score': 0.31}, {'connected_gene': 'LDLR', 'score': 0.28}]

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