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
ENST00000268720 [[89642175, 89642479], [89643946, 89644129], [89645264, 89645404], [89649851, 89649936], [89650104, 89650179], [89650435, 89650510], [89651181, 89651265], [89651871, 89651961], [89652094, 89652193], [89653077, 89653164], [89653450, 89653510], [89655082, 89655216], [89656304, 89656359], [89657414, 89657466], [89657534, 89657668], [89661774, 89662011], [89662891, 89663654]] [[89642305, 89642479], [89643946, 89644129], [89645264, 89645404], [89649851, 89649936], [89650104, 89650179], [89650435, 89650510], [89651181, 89651265], [89651871, 89651961], [89652094, 89652193], [89653077, 89653164], [89653450, 89653510], [89655082, 89655216], [89656304, 89656359], [89657414, 89657466], [89657534, 89657668], [89661774, 89662011], [89662891, 89663029]]
ENST00000319518 [[89642198, 89642479], [89643946, 89644129], [89650104, 89650179], [89650435, 89650510], [89651181, 89651265], [89651871, 89651961], [89652094, 89652193], [89653077, 89653164], [89653450, 89653510], [89655082, 89655216], [89656304, 89656359], [89657414, 89657466], [89657534, 89657668], [89661774, 89662011], [89662891, 89663654]] [[89642305, 89642479], [89643946, 89644129], [89650104, 89650179], [89650435, 89650510], [89651181, 89651265], [89651871, 89651961], [89652094, 89652193], [89653077, 89653164], [89653450, 89653510], [89655082, 89655216], [89656304, 89656359], [89657414, 89657466], [89657534, 89657668], [89661774, 89662011], [89662891, 89663029]]
ENST00000532500 [[89651228, 89651265], [89651871, 89651961], [89652094, 89652193], [89653077, 89653164], [89653450, 89653510], [89653963, 89654140]] None
ENST00000525982 [[89642189, 89642479], [89643946, 89644129], [89649851, 89649936], [89650104, 89650122]] [[89642305, 89642479], [89643946, 89644129], [89649851, 89649857]]
ENST00000529800 [[89653450, 89653510], [89653963, 89653990], [89655082, 89655216], [89656304, 89656359], [89657414, 89657466], [89657534, 89657668], [89661774, 89661831]] [[89653450, 89653510], [89653963, 89653990], [89655082, 89655216], [89656304, 89656359], [89657414, 89657466], [89657534, 89657668], [89661774, 89661831]]
ENST00000568977 [[89655211, 89655216], [89656304, 89656359], [89657414, 89657466], [89661774, 89662011], [89662891, 89663224]] [[89655211, 89655216], [89656304, 89656359], [89657414, 89657466], [89661774, 89661959]]
ENST00000566398 [[89660507, 89660566], [89661774, 89662011], [89662891, 89663267]] None
ENST00000526232 [[89661983, 89662011], [89662238, 89662332], [89662891, 89663257]] [[89661983, 89662011], [89662238, 89662332], [89662891, 89663046]]
ENST00000564421 [[89662177, 89662332], [89662891, 89663253]] None
NM_153636 [[89642175, 89642479], [89643946, 89644129], [89650104, 89650179], [89650435, 89650510], [89651181, 89651265], [89651871, 89651961], [89652094, 89652193], [89653077, 89653164], [89653450, 89653510], [89655082, 89655216], [89656304, 89656359], [89657414, 89657466], [89657534, 89657668], [89661774, 89662011], [89662891, 89663654]] [[89642305, 89642479], [89643946, 89644129], [89650104, 89650179], [89650435, 89650510], [89651181, 89651265], [89651871, 89651961], [89652094, 89652193], [89653077, 89653164], [89653450, 89653510], [89655082, 89655216], [89656304, 89656359], [89657414, 89657466], [89657534, 89657668], [89661774, 89662011], [89662891, 89663029]]
NM_014427 [[89642175, 89642479], [89643946, 89644129], [89645264, 89645404], [89649851, 89649936], [89650104, 89650179], [89650435, 89650510], [89651181, 89651265], [89651871, 89651961], [89652094, 89652193], [89653077, 89653164], [89653450, 89653510], [89655082, 89655216], [89656304, 89656359], [89657414, 89657466], [89657534, 89657668], [89661774, 89662011], [89662891, 89663654]] [[89642305, 89642479], [89643946, 89644129], [89645264, 89645404], [89649851, 89649936], [89650104, 89650179], [89650435, 89650510], [89651181, 89651265], [89651871, 89651961], [89652094, 89652193], [89653077, 89653164], [89653450, 89653510], [89655082, 89655216], [89656304, 89656359], [89657414, 89657466], [89657534, 89657668], [89661774, 89662011], [89662891, 89663029]]
Promoter
Chrom Start End Description
chr16 89642120 89642202 CAGE_peak_1_at_CPNE7_5end
chr16 89642210 89642235 CAGE_peak_2_at_CPNE7_5end
chr16 89642266 89642277 CAGE_peak_3_at_CPNE7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I089595 89595886 89596276 0.46 [{'connected_gene': 'VPS9D1', 'score': 4.95}, {'connected_gene': 'PIR32438', 'score': 0.37}, {'connected_gene': 'CPNE7', 'score': 0.34}]
chr16 GH16I089607 89607354 89609242 0.66 [{'connected_gene': 'CDK10', 'score': 15.88}, {'connected_gene': 'DBNDD1', 'score': 13.68}, {'connected_gene': 'SPIRE2', 'score': 7.92}, {'connected_gene': 'GAS8', 'score': 7.66}, {'connected_gene': 'FANCA', 'score': 7.55}, {'connected_gene': 'RPL13', 'score': 4.77}, {'connected_gene': 'PIR32438', 'score': 0.77}, {'connected_gene': 'CPNE7', 'score': 0.29}]
chr16 GH16I089585 89585887 89587123 0.67 [{'connected_gene': 'CDK10', 'score': 7.92}, {'connected_gene': 'DPEP1', 'score': 4.9}, {'connected_gene': 'SLC22A31', 'score': 4.65}, {'connected_gene': 'CPNE7', 'score': 0.39}, {'connected_gene': 'PIR32438', 'score': 0.31}]
chr16 GH16I089593 89593683 89594581 0.31 [{'connected_gene': 'CDK10', 'score': 18.42}, {'connected_gene': 'TUBB3', 'score': 10.71}, {'connected_gene': 'LINC02193', 'score': 4.35}, {'connected_gene': 'PIR32438', 'score': 0.37}, {'connected_gene': 'CPNE7', 'score': 0.37}]
chr16 GH16I089605 89605709 89606329 0.43 [{'connected_gene': 'DBNDD1', 'score': 13.57}, {'connected_gene': 'CDK10', 'score': 8.97}, {'connected_gene': 'PIR32438', 'score': 0.44}, {'connected_gene': 'CPNE7', 'score': 0.29}]
chr16 GH16I089449 89449401 89450600 0.83 [{'connected_gene': 'SPG7', 'score': 10.74}, {'connected_gene': 'CPNE7', 'score': 4.38}, {'connected_gene': 'LOC100130664', 'score': 0.44}, {'connected_gene': 'GC16P089443', 'score': 0.44}, {'connected_gene': 'LOC101927817', 'score': 0.37}, {'connected_gene': 'ANKRD11', 'score': 0.26}]
chr16 GH16I089297 89297417 89304190 1.16 [{'connected_gene': 'LINC00304', 'score': 6.44}, {'connected_gene': 'TUBB3', 'score': 6.33}, {'connected_gene': 'ACSF3', 'score': 6.31}, {'connected_gene': 'ENSG00000260279', 'score': 6.16}, {'connected_gene': 'ANKRD11', 'score': 5.64}, {'connected_gene': 'RPL13', 'score': 5.16}, {'connected_gene': 'ENSG00000259877', 'score': 4.72}, {'connected_gene': 'CPNE7', 'score': 4.44}, {'connected_gene': 'LOC105371414', 'score': 0.77}, {'connected_gene': 'LOC100287036', 'score': 0.34}]
chr16 GH16I089573 89573982 89576859 2.1 [{'connected_gene': 'CPNE7', 'score': 550.77}, {'connected_gene': 'CDK10', 'score': 15.39}, {'connected_gene': 'RPL13', 'score': 11.45}, {'connected_gene': 'SLC22A31', 'score': 5.65}, {'connected_gene': 'SPG7', 'score': 5.43}, {'connected_gene': 'VPS9D1-AS1', 'score': 4.47}, {'connected_gene': 'GC16P089578', 'score': 0.39}, {'connected_gene': 'PIR36548', 'score': 0.39}]
chr16 GH16I089572 89572260 89572402 0.86 [{'connected_gene': 'CPNE7', 'score': 0.77}, {'connected_gene': 'GC16P089578', 'score': 0.44}, {'connected_gene': 'PIR36548', 'score': 0.44}]
chr16 GH16I089584 89584651 89585834 0.43 [{'connected_gene': 'SLC22A31', 'score': 5.7}, {'connected_gene': 'CPNE7', 'score': 0.44}, {'connected_gene': 'PIR32438', 'score': 0.31}]
chr16 GH16I089601 89601857 89603400 1.01 [{'connected_gene': 'LOC101927863', 'score': 15.13}, {'connected_gene': 'MC1R', 'score': 12.92}, {'connected_gene': 'CDK10', 'score': 12.78}, {'connected_gene': 'ENSG00000259877', 'score': 12.51}, {'connected_gene': 'AFG3L1P', 'score': 12.1}, {'connected_gene': 'DBNDD1', 'score': 10.57}, {'connected_gene': 'TUBB3', 'score': 7.8}, {'connected_gene': 'LINC02138', 'score': 4.73}, {'connected_gene': 'PIR32438', 'score': 0.39}, {'connected_gene': 'CPNE7', 'score': 0.31}]
chr16 GH16I089457 89457857 89459408 0.83 [{'connected_gene': 'LOC100130664', 'score': 550.77}, {'connected_gene': 'CPNE7', 'score': 4.38}, {'connected_gene': 'GC16P089443', 'score': 0.37}, {'connected_gene': 'ANKRD11', 'score': 0.29}]
chr16 GH16I089580 89580584 89583065 1.29 [{'connected_gene': 'ENSG00000259877', 'score': 23.23}, {'connected_gene': 'CDK10', 'score': 20.21}, {'connected_gene': 'RPL13', 'score': 13.28}, {'connected_gene': 'MC1R', 'score': 11.96}, {'connected_gene': 'AFG3L1P', 'score': 11.89}, {'connected_gene': 'GAS8', 'score': 11.34}, {'connected_gene': 'CTU2', 'score': 11.25}, {'connected_gene': 'SPG7', 'score': 10.9}, {'connected_gene': 'ANKRD11', 'score': 9.98}, {'connected_gene': 'SLC22A31', 'score': 5.68}, {'connected_gene': 'CPNE7', 'score': 0.44}, {'connected_gene': 'PIR32438', 'score': 0.29}]
chr16 GH16I089599 89599221 89599702 0.71 [{'connected_gene': 'PIR32438', 'score': 0.39}, {'connected_gene': 'CPNE7', 'score': 0.34}]
chr16 GH16I089610 89609393 89609542 0.7 [{'connected_gene': 'PIR32438', 'score': 0.77}, {'connected_gene': 'CPNE7', 'score': 0.29}]
chr16 GH16I089598 89598400 89598601 0.46 [{'connected_gene': 'PIR32438', 'score': 0.39}, {'connected_gene': 'CPNE7', 'score': 0.34}]
chr16 GH16I089609 89609733 89609882 0.72 [{'connected_gene': 'PIR32438', 'score': 0.77}, {'connected_gene': 'CPNE7', 'score': 0.29}]

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