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
ENST00000609923 [[70237757, 70243345], [70246900, 70246969], [70248223, 70248386], [70252888, 70252955], [70253205, 70253327], [70263388, 70263452], [70266341, 70266475], [70276507, 70276600], [70287002, 70287231]] [[70243188, 70243345], [70246900, 70246969], [70248223, 70248386], [70252888, 70252955], [70253205, 70253327], [70263388, 70263452], [70266341, 70266475], [70276507, 70276600], [70287002, 70287132]]
ENST00000539557 [[70242766, 70243345], [70246900, 70246969], [70248223, 70248386], [70252888, 70252955], [70253205, 70253327], [70263388, 70263452], [70266341, 70266475], [70276507, 70276600], [70276840, 70277022], [70287002, 70287173]] [[70243188, 70243345], [70246900, 70246969], [70248223, 70248386], [70252888, 70252955], [70253205, 70253327], [70263388, 70263452], [70266341, 70266404]]
ENST00000265870 [[70242775, 70243345], [70246900, 70246969], [70248223, 70248386], [70252888, 70252955], [70263388, 70263452], [70266341, 70266475], [70276507, 70276600], [70276840, 70277975]] None
ENST00000493963 [[70243231, 70243345], [70246900, 70246969], [70248223, 70248386], [70252888, 70252955], [70253205, 70253327], [70263388, 70263452], [70266341, 70266475], [70276507, 70276600], [70276840, 70276942], [70287002, 70287195]] [[70276898, 70276942], [70287002, 70287132]]
ENST00000474927 [[70252930, 70252955], [70253205, 70253327], [70256190, 70256269], [70263388, 70263452], [70266341, 70266362]] [[70253293, 70253327], [70256190, 70256269], [70263388, 70263452], [70266341, 70266362]]
ENST00000439904 [[70237755, 70238560], [70239547, 70240521]] None
ENST00000608053 [[70246830, 70246969], [70248223, 70248347]] [[70246896, 70246969], [70248223, 70248347]]
ENST00000491102 [[70266383, 70266475], [70276507, 70276600], [70276840, 70277022], [70287002, 70287173]] [[70276873, 70277022], [70287002, 70287132]]
NM_001324315 [[70242089, 70243345], [70246900, 70246969], [70248223, 70248386], [70252888, 70252955], [70253205, 70253327], [70263388, 70263452], [70266341, 70266475], [70276507, 70276600], [70276840, 70277975]] [[70243188, 70243345], [70246900, 70246969], [70248223, 70248386], [70252888, 70252955], [70253205, 70253327], [70263388, 70263452], [70266341, 70266404]]
NR_136737 [[70242089, 70243345], [70246900, 70246969], [70248223, 70248386], [70252888, 70252955], [70263388, 70263452], [70266341, 70266475], [70276507, 70276600], [70276840, 70277975]] None
NM_001324314 [[70242089, 70243345], [70246900, 70246969], [70248223, 70248386], [70252888, 70252955], [70253205, 70253327], [70263388, 70263452], [70266341, 70266475], [70276507, 70276600], [70276840, 70277022], [70287002, 70287280]] [[70243188, 70243345], [70246900, 70246969], [70248223, 70248386], [70252888, 70252955], [70253205, 70253327], [70263388, 70263452], [70266341, 70266404]]
NM_001324312 [[70242089, 70243373], [70246900, 70246969], [70248223, 70248386], [70252888, 70252955], [70253205, 70253327], [70263388, 70263452], [70266341, 70266475], [70276507, 70276600], [70287002, 70287280]] [[70243267, 70243373], [70246900, 70246969], [70248223, 70248386], [70252888, 70252955], [70253205, 70253327], [70263388, 70263452], [70266341, 70266475], [70276507, 70276600], [70287002, 70287132]]
NM_152707 [[70242089, 70243345], [70246900, 70246969], [70248223, 70248386], [70252888, 70252955], [70253205, 70253327], [70263388, 70263452], [70266341, 70266475], [70276507, 70276600], [70287002, 70287280]] [[70243188, 70243345], [70246900, 70246969], [70248223, 70248386], [70252888, 70252955], [70253205, 70253327], [70263388, 70263452], [70266341, 70266475], [70276507, 70276600], [70287002, 70287132]]
NM_001324317 [[70242089, 70243345], [70246900, 70246969], [70248223, 70248386], [70252888, 70252955], [70253205, 70253327], [70263388, 70263452], [70276507, 70276600], [70287002, 70287280]] [[70243188, 70243345], [70246900, 70246969], [70248223, 70248386], [70252888, 70252955], [70253205, 70253327], [70263388, 70263407]]
NM_001324313 [[70246825, 70246969], [70248223, 70248386], [70252888, 70252955], [70253205, 70253327], [70263388, 70263452], [70266341, 70266475], [70276507, 70276600], [70287002, 70287280]] [[70246896, 70246969], [70248223, 70248386], [70252888, 70252955], [70253205, 70253327], [70263388, 70263452], [70266341, 70266475], [70276507, 70276600], [70287002, 70287132]]
Promoter
Chrom Start End Description
chr10 70278166 70278171 CAGE_peak_6_at_SLC25A16_5end
chr10 70287172 70287183 CAGE_peak_4_at_SLC25A16_5end
chr10 70287187 70287198 CAGE_peak_3_at_SLC25A16_5end
chr10 70287203 70287226 CAGE_peak_2_at_SLC25A16_5end
chr10 70287233 70287290 CAGE_peak_1_at_SLC25A16_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I068526 68526176 68528415 2.1 [{'connected_gene': 'SLC25A16', 'score': 558.75}, {'connected_gene': 'DDX50', 'score': 34.02}, {'connected_gene': 'DNA2', 'score': 29.84}, {'connected_gene': 'CCAR1', 'score': 27.76}, {'connected_gene': 'HNRNPH3', 'score': 23.88}, {'connected_gene': 'HERC4', 'score': 23.84}, {'connected_gene': 'SIRT1', 'score': 20.89}, {'connected_gene': 'RPL26P27', 'score': 14.33}, {'connected_gene': 'SUPV3L1', 'score': 12.09}, {'connected_gene': 'MIR1254-1', 'score': 11.5}, {'connected_gene': 'TET1', 'score': 10.83}, {'connected_gene': 'DDX21', 'score': 9.7}, {'connected_gene': 'ENSG00000207438', 'score': 0.34}]
chr10 GH10I068528 68528584 68528733 0.46 [{'connected_gene': 'SLC25A16', 'score': 550.77}, {'connected_gene': 'TMEM14DP', 'score': 0.37}]
chr10 GH10I068550 68550864 68551053 0.83 [{'connected_gene': 'SLC25A16', 'score': 12.03}, {'connected_gene': 'CCAR1', 'score': 11.32}, {'connected_gene': 'DDX50', 'score': 11.06}, {'connected_gene': 'MIR1254-1', 'score': 10.56}, {'connected_gene': 'SNORD98', 'score': 9.97}, {'connected_gene': 'TMEM14DP', 'score': 0.44}, {'connected_gene': 'TET1', 'score': 0.44}]
chr10 GH10I068553 68553244 68553473 0.49 [{'connected_gene': 'SLC25A16', 'score': 12.0}, {'connected_gene': 'CCAR1', 'score': 11.33}, {'connected_gene': 'DDX50', 'score': 11.06}, {'connected_gene': 'MIR1254-1', 'score': 10.56}, {'connected_gene': 'SNORD98', 'score': 9.97}, {'connected_gene': 'TMEM14DP', 'score': 0.44}, {'connected_gene': 'TET1', 'score': 0.44}]
chr10 GH10I068496 68496124 68496313 0.31 [{'connected_gene': 'SLC25A16', 'score': 12.12}, {'connected_gene': 'RPL26P27', 'score': 0.77}, {'connected_gene': 'DNA2', 'score': 0.34}]
chr10 GH10I068541 68541465 68543313 0.82 [{'connected_gene': 'TMEM14DP', 'score': 0.77}, {'connected_gene': 'SLC25A16', 'score': 0.39}]
chr10 GH10I068530 68530044 68530153 0.31 [{'connected_gene': 'CCAR1', 'score': 10.84}, {'connected_gene': 'SLC25A16', 'score': 0.77}, {'connected_gene': 'TMEM14DP', 'score': 0.39}]
chr10 GH10I068506 68506544 68506693 0.2 [{'connected_gene': 'CCAR1', 'score': 10.33}, {'connected_gene': 'ENSG00000207438', 'score': 0.77}, {'connected_gene': 'SLC25A16', 'score': 0.34}]
chr10 GH10I068516 68516122 68518120 0.49 [{'connected_gene': 'DNA2', 'score': 27.95}, {'connected_gene': 'ENSG00000207438', 'score': 0.39}, {'connected_gene': 'SLC25A16', 'score': 0.39}]
chr10 GH10I068470 68470121 68472593 2.06 [{'connected_gene': 'DNA2', 'score': 585.55}, {'connected_gene': 'GC10P068471', 'score': 550.77}, {'connected_gene': 'DDX50', 'score': 19.84}, {'connected_gene': 'HERC4', 'score': 12.96}, {'connected_gene': 'SLC25A16', 'score': 11.9}, {'connected_gene': 'CCAR1', 'score': 10.03}, {'connected_gene': 'MIR1254-1', 'score': 10.03}, {'connected_gene': 'RNA5SP319', 'score': 0.44}]
chr10 GH10I068870 68870353 68873028 1.11 [{'connected_gene': 'GC10M068883', 'score': 550.77}, {'connected_gene': 'PIR45234', 'score': 550.77}, {'connected_gene': 'PIR40648', 'score': 550.77}, {'connected_gene': 'PIR50722', 'score': 550.77}, {'connected_gene': 'PIR60428', 'score': 550.77}, {'connected_gene': 'GC10M068882', 'score': 550.77}, {'connected_gene': 'STOX1', 'score': 32.87}, {'connected_gene': 'RNU6-697P', 'score': 11.81}, {'connected_gene': 'DDX50', 'score': 11.48}, {'connected_gene': 'SLC25A16', 'score': 10.82}]

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