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
ENST00000228468 [[50451330, 50451699], [50452533, 50452911], [50453541, 50453737], [50470995, 50471146], [50471782, 50471910], [50472203, 50472360], [50472706, 50472763], [50473684, 50473838], [50474280, 50474510], [50474884, 50474964], [50475042, 50475147], [50475327, 50477394]] [[50452549, 50452911], [50453541, 50453737], [50470995, 50471146], [50471782, 50471910], [50472203, 50472360], [50472706, 50472763], [50473684, 50473838], [50474280, 50474510], [50474884, 50474964], [50475042, 50475147], [50475327, 50475432]]
ENST00000447966 [[50451486, 50451699], [50452533, 50452911], [50453541, 50453737], [50470995, 50471146], [50471782, 50471910], [50472203, 50472360], [50472706, 50472763], [50473684, 50473838], [50474280, 50474372], [50474884, 50474964], [50475042, 50475147], [50475327, 50477394]] [[50452549, 50452911], [50453541, 50453737], [50470995, 50471146], [50471782, 50471910], [50472203, 50472360], [50472706, 50472763], [50473684, 50473838], [50474280, 50474372], [50474884, 50474964], [50475042, 50475147], [50475327, 50475432]]
ENST00000550558 [[50451527, 50451699], [50452533, 50452911], [50453541, 50453737], [50470750, 50470832], [50470995, 50471146], [50471782, 50471910], [50472203, 50472360], [50472706, 50472763], [50473684, 50473838], [50474280, 50474372], [50474884, 50474964], [50475042, 50475147], [50475327, 50477394]] [[50452549, 50452911], [50453541, 50453737], [50470750, 50470832], [50470995, 50471146], [50471782, 50471783]]
ENST00000453327 [[50453669, 50453737], [50470750, 50470843], [50470995, 50471146], [50471782, 50471910], [50472203, 50472360], [50472706, 50472763], [50473684, 50473838], [50474280, 50474372], [50474884, 50474964], [50475042, 50475147], [50475327, 50475723]] [[50453669, 50453737], [50470750, 50470843], [50470995, 50471146], [50471782, 50471910], [50472203, 50472360], [50472706, 50472763], [50473684, 50473838], [50474280, 50474372], [50474884, 50474964], [50475042, 50475147], [50475327, 50475432]]
ENST00000551199 [[50464522, 50464676], [50470995, 50471146], [50471782, 50471910], [50472203, 50472360], [50472706, 50472763], [50473684, 50473838], [50474143, 50474565]] None
ENST00000552438 [[50467357, 50468027], [50470995, 50471146], [50471782, 50471910], [50472203, 50472360], [50472706, 50472763], [50473684, 50473838], [50474280, 50474372], [50474884, 50474964], [50475042, 50475147], [50475327, 50477060]] [[50467367, 50468027], [50470995, 50471146], [50471782, 50471910], [50472203, 50472360], [50472706, 50472763], [50473684, 50473838], [50474280, 50474372], [50474884, 50474964], [50475042, 50475147], [50475327, 50475432]]
ENST00000549792 [[50470532, 50470832], [50470995, 50471045]] None
ENST00000548350 [[50472244, 50472763], [50473684, 50473725]] None
ENST00000552633 [[50474280, 50474372], [50474884, 50474964], [50475042, 50475147], [50475327, 50475561], [50476498, 50476601]] [[50474280, 50474372], [50474884, 50474964], [50475042, 50475147], [50475327, 50475432]]
NM_001095 [[50451419, 50451699], [50452533, 50452911], [50453541, 50453737], [50470995, 50471146], [50471782, 50471910], [50472203, 50472360], [50472706, 50472763], [50473684, 50473838], [50474280, 50474372], [50474884, 50474964], [50475042, 50475147], [50475327, 50477405]] [[50452549, 50452911], [50453541, 50453737], [50470995, 50471146], [50471782, 50471910], [50472203, 50472360], [50472706, 50472763], [50473684, 50473838], [50474280, 50474372], [50474884, 50474964], [50475042, 50475147], [50475327, 50475432]]
NM_020039 [[50451419, 50451699], [50452533, 50452911], [50453541, 50453737], [50470995, 50471146], [50471782, 50471910], [50472203, 50472360], [50472706, 50472763], [50473684, 50473838], [50474280, 50474510], [50474884, 50474964], [50475042, 50475147], [50475327, 50477405]] [[50452549, 50452911], [50453541, 50453737], [50470995, 50471146], [50471782, 50471910], [50472203, 50472360], [50472706, 50472763], [50473684, 50473838], [50474280, 50474510], [50474884, 50474964], [50475042, 50475147], [50475327, 50475432]]
NR_046389 [[50451419, 50451699], [50452533, 50452911], [50453541, 50453737], [50470750, 50470832], [50470995, 50471146], [50471782, 50471910], [50472203, 50472360], [50472706, 50472763], [50473684, 50473838], [50474280, 50474372], [50474884, 50474964], [50475042, 50475147], [50475327, 50477405]] None
NM_001256830 [[50467367, 50468027], [50470995, 50471146], [50471782, 50471910], [50472203, 50472360], [50472706, 50472763], [50473684, 50473838], [50474280, 50474372], [50474884, 50474964], [50475042, 50475147], [50475327, 50477405]] [[50467367, 50468027], [50470995, 50471146], [50471782, 50471910], [50472203, 50472360], [50472706, 50472763], [50473684, 50473838], [50474280, 50474372], [50474884, 50474964], [50475042, 50475147], [50475327, 50475432]]
Promoter
Chrom Start End Description
chr12 50451133 50451188 CAGE_peak_2_at_ACCN2_5end
chr12 50451363 50451429 CAGE_peak_1_at_ACCN2_5end
chr12 50451462 50451473 CAGE_peak_4_at_ACCN2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I050161 50161846 50162208 0.28 [{'connected_gene': 'COX14', 'score': 5.98}, {'connected_gene': 'ASIC1', 'score': 2.29}, {'connected_gene': 'DIP2B', 'score': 1.59}, {'connected_gene': 'CERS5', 'score': 0.44}, {'connected_gene': 'GC12P050120', 'score': 0.26}, {'connected_gene': 'ENSG00000272368', 'score': 0.25}, {'connected_gene': 'GC12M050135', 'score': 0.22}]
chr12 GH12I050046 50046705 50048737 0.72 [{'connected_gene': 'SMARCD1', 'score': 11.7}, {'connected_gene': 'AQP6', 'score': 11.35}, {'connected_gene': 'AQP2', 'score': 10.92}, {'connected_gene': 'COX14', 'score': 10.11}, {'connected_gene': 'LIMA1', 'score': 9.31}, {'connected_gene': 'RACGAP1', 'score': 6.81}, {'connected_gene': 'C1QL4', 'score': 4.78}, {'connected_gene': 'ASIC1', 'score': 0.44}]
chr12 GH12I049823 49823366 49829670 2.5 [{'connected_gene': 'NCKAP5L', 'score': 553.27}, {'connected_gene': 'SMARCD1', 'score': 17.51}, {'connected_gene': 'LMBR1L', 'score': 13.74}, {'connected_gene': 'FAIM2', 'score': 12.73}, {'connected_gene': 'ASIC1', 'score': 12.69}, {'connected_gene': 'DDX23', 'score': 12.48}, {'connected_gene': 'BCDIN3D-AS1', 'score': 11.55}, {'connected_gene': 'CERS5', 'score': 10.88}, {'connected_gene': 'KMT2D', 'score': 10.28}, {'connected_gene': 'TUBA1A', 'score': 9.95}, {'connected_gene': 'ENSG00000272368', 'score': 9.88}, {'connected_gene': 'RPL35AP28', 'score': 4.55}, {'connected_gene': 'NMTRQ-TTG6-1', 'score': 0.44}]
chr12 GH12I050074 50074901 50076147 1.09 [{'connected_gene': 'LMBR1L', 'score': 15.0}, {'connected_gene': 'LARP4', 'score': 13.52}, {'connected_gene': 'ATF1', 'score': 13.45}, {'connected_gene': 'BCDIN3D', 'score': 10.36}, {'connected_gene': 'SMARCD1', 'score': 10.12}, {'connected_gene': 'GC12P050064', 'score': 0.39}, {'connected_gene': 'ASIC1', 'score': 0.37}]
chr12 GH12I050056 50056926 50058201 2.16 [{'connected_gene': 'ASIC1', 'score': 550.77}, {'connected_gene': 'KMT2D', 'score': 60.25}, {'connected_gene': 'SMARCD1', 'score': 54.4}, {'connected_gene': 'LMBR1L', 'score': 53.73}, {'connected_gene': 'LIMA1', 'score': 50.48}, {'connected_gene': 'ATF1', 'score': 46.72}, {'connected_gene': 'BCDIN3D', 'score': 30.71}, {'connected_gene': 'LOC101927267', 'score': 28.41}, {'connected_gene': 'LOC100422296', 'score': 22.71}, {'connected_gene': 'PRPF40B', 'score': 21.75}, {'connected_gene': 'CERS5', 'score': 20.06}, {'connected_gene': 'SPATS2', 'score': 18.23}, {'connected_gene': 'ENSG00000257298', 'score': 12.14}, {'connected_gene': 'ENSG00000257964', 'score': 10.14}, {'connected_gene': 'C1QL4', 'score': 4.83}, {'connected_gene': 'GC12P050064', 'score': 0.44}]
chr12 GH12I050020 50020530 50022214 0.63 [{'connected_gene': 'ASIC1', 'score': 11.93}, {'connected_gene': 'AQP6', 'score': 11.31}, {'connected_gene': 'AQP5', 'score': 11.3}, {'connected_gene': 'AQP2', 'score': 9.9}, {'connected_gene': 'RACGAP1', 'score': 0.39}, {'connected_gene': 'PIR47189', 'score': 0.29}]
chr12 GH12I050058 50056271 50056287 1.03 [{'connected_gene': 'ASIC1', 'score': 550.77}, {'connected_gene': 'RACGAP1', 'score': 0.34}]
chr12 GH12I050060 50056078 50056267 1.1 [{'connected_gene': 'ASIC1', 'score': 550.77}, {'connected_gene': 'CERS5', 'score': 14.59}, {'connected_gene': 'RACGAP1', 'score': 0.34}]
chr12 GH12I049931 49931018 49931495 1.05 [{'connected_gene': 'ASIC1', 'score': 10.24}, {'connected_gene': 'FAIM2', 'score': 7.27}, {'connected_gene': 'FMNL3', 'score': 6.0}, {'connected_gene': 'NCKAP5L', 'score': 1.53}, {'connected_gene': 'LOC105369763', 'score': 0.39}, {'connected_gene': 'LINC02395', 'score': 0.37}]
chr12 GH12I050015 50015968 50019680 0.95 [{'connected_gene': 'ASIC1', 'score': 11.93}, {'connected_gene': 'BCDIN3D-AS1', 'score': 11.35}, {'connected_gene': 'AQP6', 'score': 11.31}, {'connected_gene': 'AQP5', 'score': 11.3}, {'connected_gene': 'RACGAP1', 'score': 10.18}, {'connected_gene': 'AQP2', 'score': 9.91}, {'connected_gene': 'ENSG00000272368', 'score': 9.8}, {'connected_gene': 'COX14', 'score': 9.67}, {'connected_gene': 'LIMA1', 'score': 9.39}, {'connected_gene': 'LARP4', 'score': 7.22}, {'connected_gene': 'PIR47189', 'score': 0.31}]
chr12 GH12I050057 50056338 50056547 0.95 [{'connected_gene': 'ASIC1', 'score': 550.77}, {'connected_gene': 'BCDIN3D-AS1', 'score': 15.12}, {'connected_gene': 'FAIM2', 'score': 11.45}, {'connected_gene': 'RACGAP1', 'score': 0.34}]
chr12 GH12I050039 50039200 50040294 1.27 [{'connected_gene': 'AQP6', 'score': 11.34}, {'connected_gene': 'AQP5', 'score': 11.24}, {'connected_gene': 'AQP2', 'score': 10.53}, {'connected_gene': 'LIMA1', 'score': 9.52}, {'connected_gene': 'LARP4', 'score': 7.94}, {'connected_gene': 'RACGAP1', 'score': 7.46}, {'connected_gene': 'ASIC1', 'score': 0.37}]
chr12 GH12I050059 50059838 50060067 0.43 [{'connected_gene': 'AQP6', 'score': 11.66}, {'connected_gene': 'RACGAP1', 'score': 11.16}, {'connected_gene': 'AQP2', 'score': 10.55}, {'connected_gene': 'COX14', 'score': 10.36}, {'connected_gene': 'CERS5', 'score': 10.32}, {'connected_gene': 'LIMA1', 'score': 9.2}, {'connected_gene': 'GC12P050064', 'score': 0.77}, {'connected_gene': 'ASIC1', 'score': 0.77}]
chr12 GH12I049933 49933281 49934412 0.38 [{'connected_gene': 'AQP5', 'score': 11.35}, {'connected_gene': 'AQP6', 'score': 11.33}, {'connected_gene': 'ASIC1', 'score': 10.43}, {'connected_gene': 'FAIM2', 'score': 5.53}, {'connected_gene': 'LOC105369763', 'score': 0.44}, {'connected_gene': 'LINC02395', 'score': 0.34}]
chr12 GH12I050024 50024143 50026246 2.08 [{'connected_gene': 'RACGAP1', 'score': 560.25}, {'connected_gene': 'LMBR1L', 'score': 27.87}, {'connected_gene': 'KMT2D', 'score': 27.84}, {'connected_gene': 'SMARCD1', 'score': 26.19}, {'connected_gene': 'BCDIN3D', 'score': 22.62}, {'connected_gene': 'PRPF40B', 'score': 19.27}, {'connected_gene': 'ATF1', 'score': 13.51}, {'connected_gene': 'ASIC1', 'score': 11.94}, {'connected_gene': 'AQP6', 'score': 11.3}, {'connected_gene': 'AQP5', 'score': 11.29}, {'connected_gene': 'AQP2', 'score': 10.23}, {'connected_gene': 'ENSG00000257964', 'score': 9.84}, {'connected_gene': 'LIMA1', 'score': 9.4}, {'connected_gene': 'PIR47189', 'score': 0.28}]
chr12 GH12I050032 50032800 50033547 1.12 [{'connected_gene': 'RACGAP1', 'score': 555.91}, {'connected_gene': 'AQP6', 'score': 11.26}, {'connected_gene': 'AQP5', 'score': 11.25}, {'connected_gene': 'AQP2', 'score': 10.54}, {'connected_gene': 'LIMA1', 'score': 9.52}, {'connected_gene': 'ASIC1', 'score': 0.34}]
chr12 GH12I050080 50080998 50084013 0.87 [{'connected_gene': 'CERS5', 'score': 14.24}, {'connected_gene': 'SMARCD1', 'score': 0.77}, {'connected_gene': 'GC12P050064', 'score': 0.37}, {'connected_gene': 'ASIC1', 'score': 0.34}]
chr12 GH12I050050 50050078 50052000 1.35 [{'connected_gene': 'CERS5', 'score': 13.54}, {'connected_gene': 'ENSG00000257298', 'score': 12.14}, {'connected_gene': 'LIMA1', 'score': 11.67}, {'connected_gene': 'PRPF40B', 'score': 11.57}, {'connected_gene': 'SMARCD1', 'score': 11.18}, {'connected_gene': 'ENSG00000257964', 'score': 10.14}, {'connected_gene': 'LOC100422296', 'score': 9.95}, {'connected_gene': 'ASIC1', 'score': 0.44}, {'connected_gene': 'RACGAP1', 'score': 0.37}]
chr12 GH12I050070 50070401 50071129 1.1 [{'connected_gene': 'CERS5', 'score': 26.69}, {'connected_gene': 'ENSG00000272368', 'score': 20.12}, {'connected_gene': 'ASIC1', 'score': 13.01}, {'connected_gene': 'FAIM2', 'score': 12.65}, {'connected_gene': 'FAM186A', 'score': 11.56}, {'connected_gene': 'SLC11A2', 'score': 11.41}, {'connected_gene': 'FAM186B', 'score': 10.88}, {'connected_gene': 'BCDIN3D-AS1', 'score': 10.85}, {'connected_gene': 'ENSG00000257298', 'score': 10.33}, {'connected_gene': 'PRPF40B', 'score': 10.29}, {'connected_gene': 'PRPH', 'score': 10.04}, {'connected_gene': 'TUBA1A', 'score': 9.94}, {'connected_gene': 'DHH', 'score': 9.9}, {'connected_gene': 'LOC100422296', 'score': 9.83}, {'connected_gene': 'LMBR1L', 'score': 9.79}, {'connected_gene': 'GC12P050064', 'score': 0.44}, {'connected_gene': 'SMARCD1', 'score': 0.39}]
chr12 GH12I050066 50066121 50067203 1.13 [{'connected_gene': 'CERS5', 'score': 27.47}, {'connected_gene': 'AQP6', 'score': 10.98}, {'connected_gene': 'RACGAP1', 'score': 10.78}, {'connected_gene': 'AQP2', 'score': 10.2}, {'connected_gene': 'GC12P050064', 'score': 0.77}, {'connected_gene': 'ASIC1', 'score': 0.44}, {'connected_gene': 'SMARCD1', 'score': 0.37}]
chr12 GH12I049820 49820602 49821907 0.96 [{'connected_gene': 'TUBA1B', 'score': 4.86}, {'connected_gene': 'ASIC1', 'score': 4.5}, {'connected_gene': 'NMTRQ-TTG6-1', 'score': 0.77}, {'connected_gene': 'NCKAP5L', 'score': 0.44}, {'connected_gene': 'BCDIN3D-AS1', 'score': 0.44}, {'connected_gene': 'GC12P049810', 'score': 0.39}]
chr12 GH12I049055 49055133 49061872 2.09 [{'connected_gene': 'GC12P049057', 'score': 550.77}, {'connected_gene': 'DDX23', 'score': 74.87}, {'connected_gene': 'LOC390314', 'score': 67.83}, {'connected_gene': 'LMBR1L', 'score': 60.67}, {'connected_gene': 'CCNT1', 'score': 53.48}, {'connected_gene': 'KANSL2', 'score': 51.65}, {'connected_gene': 'KMT2D', 'score': 47.76}, {'connected_gene': 'LOC100422296', 'score': 43.41}, {'connected_gene': 'SENP1', 'score': 42.32}, {'connected_gene': 'PRPF40B', 'score': 41.05}, {'connected_gene': 'OR5BK1P', 'score': 31.21}, {'connected_gene': 'BCDIN3D', 'score': 27.59}, {'connected_gene': 'ADCY6', 'score': 21.11}, {'connected_gene': 'DDN', 'score': 19.98}, {'connected_gene': 'ENSG00000257964', 'score': 19.91}, {'connected_gene': 'CACNB3', 'score': 19.75}, {'connected_gene': 'LOC101927267', 'score': 19.69}, {'connected_gene': 'SPATS2', 'score': 18.26}, {'connected_gene': 'LOC102725258', 'score': 18.24}, {'connected_gene': 'CCDC184', 'score': 15.18}, {'connected_gene': 'ASIC1', 'score': 12.64}, {'connected_gene': 'FAIM2', 'score': 12.57}, {'connected_gene': 'BCDIN3D-AS1', 'score': 10.81}, {'connected_gene': 'TUBA1A', 'score': 10.03}, {'connected_gene': 'CCDC65', 'score': 8.14}, {'connected_gene': 'DHH', 'score': 3.93}, {'connected_gene': 'GC12M049057', 'score': 0.77}]
chr12 GH12I049990 49990208 49991000 0.31 [{'connected_gene': 'PIR47189', 'score': 550.77}, {'connected_gene': 'RACGAP1', 'score': 21.02}, {'connected_gene': 'AQP6', 'score': 12.03}, {'connected_gene': 'ASIC1', 'score': 11.3}, {'connected_gene': 'AQP5', 'score': 11.24}, {'connected_gene': 'AQP2', 'score': 10.74}, {'connected_gene': 'COX14', 'score': 9.66}, {'connected_gene': 'MCRS1', 'score': 9.26}, {'connected_gene': 'LIMA1', 'score': 9.22}]

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