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
ENST00000583881 [[72858618, 72859069], [72859197, 72859368], [72860269, 72860469], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862666], [72862905, 72863001], [72868160, 72868232], [72868990, 72869138]] [[72862921, 72863001], [72868160, 72868232], [72868990, 72869069]]
ENST00000293195 [[72858618, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72862998], [72868160, 72868258], [72868990, 72869148]] [[72858938, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72862998], [72868160, 72868258], [72868990, 72869069]]
ENST00000544854 [[72858619, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72862998], [72864667, 72864876]] [[72858938, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72862998], [72864667, 72864688]]
ENST00000420580 [[72858619, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862905, 72863001], [72868160, 72868258], [72868990, 72869099]] [[72858938, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862905, 72863001], [72868160, 72868258], [72868990, 72869069]]
ENST00000578473 [[72858620, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72863001], [72868160, 72868258], [72868367, 72869131]] None
ENST00000581530 [[72858622, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861071], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72862998], [72868160, 72868258], [72868990, 72869086]] [[72858938, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861071], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72862998], [72868160, 72868258], [72868990, 72869069]]
ENST00000455107 [[72858622, 72859069], [72859197, 72859368], [72860017, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72863001], [72866072, 72866225], [72868160, 72868258], [72868893, 72869101]] [[72859344, 72859368], [72860017, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72863001], [72866072, 72866114]]
ENST00000579482 [[72858622, 72859069], [72859197, 72859368], [72860017, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72863001], [72866072, 72866225], [72868160, 72868258], [72868893, 72869101]] [[72868928, 72869069]]
ENST00000577509 [[72858626, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72863001], [72868160, 72868258], [72868893, 72869093]] [[72868928, 72869069]]
ENST00000583917 [[72858639, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860467], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72863001], [72868160, 72868258], [72868990, 72869140]] [[72858938, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860467], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72863001], [72868160, 72868258], [72868990, 72869069]]
ENST00000442102 [[72858663, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72863127], [72868160, 72868258], [72868990, 72869156]] [[72858938, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72863127], [72868160, 72868258], [72868990, 72869069]]
ENST00000582944 [[72858665, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862666], [72862905, 72862998], [72868160, 72868258], [72868990, 72869110]] [[72858938, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862666], [72862905, 72862998], [72868160, 72868258], [72868990, 72869069]]
ENST00000413947 [[72858730, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72862998], [72868160, 72868232], [72868322, 72868441], [72868990, 72869101]] [[72858938, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72862998], [72868160, 72868232], [72868322, 72868441], [72868990, 72869069]]
ENST00000582710 [[72860397, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862905, 72862998], [72868160, 72868258], [72868893, 72869067]] [[72868928, 72869067]]
ENST00000579893 [[72861017, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72863001], [72864667, 72864754]] [[72861017, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72863001], [72864667, 72864688]]
ENST00000580492 [[72862252, 72862366], [72862567, 72862690], [72862905, 72863020], [72868160, 72868258], [72868990, 72869093]] [[72862921, 72863020], [72868160, 72868258], [72868990, 72869069]]
ENST00000581969 [[72862258, 72862366], [72862567, 72862690], [72862905, 72862998], [72864352, 72864596]] None
ENST00000579543 [[72862302, 72862366], [72862567, 72862690], [72862905, 72862998], [72868160, 72868232], [72868893, 72869099]] [[72868928, 72869069]]
ENST00000581219 [[72862330, 72862366], [72862567, 72862666], [72862905, 72863127], [72868160, 72868258], [72868990, 72869102]] [[72862330, 72862366], [72862567, 72862666], [72862905, 72863127], [72868160, 72868258], [72868990, 72869069]]
ENST00000577932 [[72862633, 72862998], [72868160, 72868258], [72868990, 72869099]] None
NM_001258016 [[72858618, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72862998], [72864667, 72864876]] [[72858938, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72862998], [72864667, 72864688]]
NR_047576 [[72858618, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72863001], [72868160, 72868258], [72868893, 72869156]] None
NM_001258013 [[72858618, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72862998], [72868160, 72868232], [72868322, 72868441], [72868990, 72869156]] [[72858938, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72862998], [72868160, 72868232], [72868322, 72868441], [72868990, 72869069]]
NM_001258012 [[72858618, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72863127], [72868160, 72868258], [72868990, 72869156]] [[72858938, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72863127], [72868160, 72868258], [72868990, 72869069]]
NM_001258015 [[72858618, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862905, 72863001], [72868160, 72868258], [72868990, 72869156]] [[72858938, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862905, 72863001], [72868160, 72868258], [72868990, 72869069]]
NM_004110 [[72858618, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861071], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72862998], [72868160, 72868258], [72868990, 72869156]] [[72858938, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861071], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72862998], [72868160, 72868258], [72868990, 72869069]]
NM_024417 [[72858618, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72862998], [72868160, 72868258], [72868990, 72869156]] [[72858938, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862690], [72862905, 72862998], [72868160, 72868258], [72868990, 72869069]]
NM_001258014 [[72858618, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862666], [72862905, 72862998], [72868160, 72868258], [72868990, 72869156]] [[72858938, 72859069], [72859197, 72859368], [72860017, 72860189], [72860269, 72860469], [72860601, 72860686], [72860945, 72861053], [72861840, 72861942], [72862252, 72862366], [72862567, 72862666], [72862905, 72862998], [72868160, 72868258], [72868990, 72869069]]
Promoter
Chrom Start End Description
chr17 72864739 72864767 CAGE_peak_5_at_FDXR_5end
chr17 72869075 72869082 CAGE_peak_3_at_FDXR_5end
chr17 72869087 72869135 CAGE_peak_1_at_FDXR_5end
chr17 72869140 72869145 CAGE_peak_2_at_FDXR_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I074910 74910863 74913092 0.46 [{'connected_gene': 'OTOP3', 'score': 13.0}, {'connected_gene': 'FDXR', 'score': 11.75}, {'connected_gene': 'GC17P074914', 'score': 0.77}, {'connected_gene': 'GC17M074889', 'score': 0.39}]
chr17 GH17I074640 74640928 74643357 1.16 [{'connected_gene': 'CD300E', 'score': 34.93}, {'connected_gene': 'CD300C', 'score': 19.73}, {'connected_gene': 'CD300LB', 'score': 19.32}, {'connected_gene': 'TMEM104', 'score': 16.51}, {'connected_gene': 'CD300LF', 'score': 14.59}, {'connected_gene': 'CD300LD', 'score': 12.73}, {'connected_gene': 'RAB37', 'score': 11.66}, {'connected_gene': 'ENSG00000236770', 'score': 10.95}, {'connected_gene': 'SLC9A3R1', 'score': 10.61}, {'connected_gene': 'NAT9', 'score': 10.42}, {'connected_gene': 'GRIN2C', 'score': 10.24}, {'connected_gene': 'GPRC5C', 'score': 9.78}, {'connected_gene': 'LOC101928343', 'score': 5.02}, {'connected_gene': 'FDXR', 'score': 4.6}, {'connected_gene': 'CD300A', 'score': 2.21}, {'connected_gene': 'TTYH2', 'score': 1.69}, {'connected_gene': 'SLC16A5', 'score': 1.68}]
chr17 GH17I074790 74790801 74791926 1.12 [{'connected_gene': 'RAB37', 'score': 19.61}, {'connected_gene': 'GRIN2C', 'score': 12.62}, {'connected_gene': 'SLC9A3R1', 'score': 11.72}, {'connected_gene': 'FDXR', 'score': 11.3}, {'connected_gene': 'FADS6', 'score': 11.28}, {'connected_gene': 'OTOP3', 'score': 11.06}, {'connected_gene': 'CD300LF', 'score': 10.41}, {'connected_gene': 'TMEM104', 'score': 6.57}, {'connected_gene': 'PIR51683', 'score': 0.39}]
chr17 GH17I074862 74862298 74862298 0.72 [{'connected_gene': 'GRIN2C', 'score': 550.77}, {'connected_gene': 'UNK', 'score': 14.07}, {'connected_gene': 'NUP85', 'score': 9.72}, {'connected_gene': 'FDXR', 'score': 0.39}]
chr17 GH17I074863 74862318 74862488 0.74 [{'connected_gene': 'GRIN2C', 'score': 570.5}, {'connected_gene': 'UNK', 'score': 14.07}, {'connected_gene': 'NUP85', 'score': 9.72}, {'connected_gene': 'FDXR', 'score': 0.39}]
chr17 GH17I074974 74974377 74975652 0.63 [{'connected_gene': 'HID1', 'score': 550.77}, {'connected_gene': 'OTOP3', 'score': 11.62}, {'connected_gene': 'MRPL58', 'score': 11.55}, {'connected_gene': 'RNU6-362P', 'score': 11.18}, {'connected_gene': 'FADS6', 'score': 11.12}, {'connected_gene': 'FDXR', 'score': 11.09}, {'connected_gene': 'KCTD2', 'score': 10.48}, {'connected_gene': 'ATP5PD', 'score': 10.45}, {'connected_gene': 'HID1-AS1', 'score': 0.77}, {'connected_gene': 'GC17P074982', 'score': 0.44}]
chr17 GH17I074952 74952285 74954191 0.74 [{'connected_gene': 'FADS6', 'score': 11.4}, {'connected_gene': 'CDR2L', 'score': 10.95}, {'connected_gene': 'FDXR', 'score': 10.86}, {'connected_gene': 'KCTD2', 'score': 10.46}, {'connected_gene': 'ATP5PD', 'score': 10.44}, {'connected_gene': 'GRIN2C', 'score': 10.36}, {'connected_gene': 'GC17M074966', 'score': 0.37}, {'connected_gene': 'OTOP3', 'score': 0.37}, {'connected_gene': 'HID1', 'score': 0.37}]
chr17 GH17I074883 74883251 74883400 0.31 [{'connected_gene': 'FADS6', 'score': 0.39}, {'connected_gene': 'FDXR', 'score': 0.39}]
chr17 GH17I074893 74893623 74893682 0.84 [{'connected_gene': 'FADS6', 'score': 550.77}, {'connected_gene': 'GC17M074889', 'score': 0.44}, {'connected_gene': 'FDXR', 'score': 0.34}]
chr17 GH17I074949 74949468 74951379 0.6 [{'connected_gene': 'NAT9', 'score': 12.46}, {'connected_gene': 'FADS6', 'score': 11.4}, {'connected_gene': 'HID1', 'score': 11.08}, {'connected_gene': 'CDR2L', 'score': 10.93}, {'connected_gene': 'FDXR', 'score': 10.87}, {'connected_gene': 'KCTD2', 'score': 10.46}, {'connected_gene': 'ATP5PD', 'score': 10.43}, {'connected_gene': 'GRIN2C', 'score': 10.37}, {'connected_gene': 'ENSG00000267342', 'score': 9.97}, {'connected_gene': 'TTYH2', 'score': 5.11}, {'connected_gene': 'OTOP3', 'score': 0.39}, {'connected_gene': 'GC17M074966', 'score': 0.37}]
chr17 GH17I074871 74871527 74878746 2.33 [{'connected_gene': 'FDXR', 'score': 569.4}, {'connected_gene': 'NT5C', 'score': 28.38}, {'connected_gene': 'UNK', 'score': 25.51}, {'connected_gene': 'NUP85', 'score': 24.92}, {'connected_gene': 'GGA3', 'score': 18.06}, {'connected_gene': 'ENSG00000266980', 'score': 14.68}, {'connected_gene': 'GRIN2C', 'score': 12.72}, {'connected_gene': 'LOC101928343', 'score': 11.4}, {'connected_gene': 'SLC16A5', 'score': 10.16}, {'connected_gene': 'FADS6', 'score': 0.37}]
chr17 GH17I074870 74870637 74870786 0.82 [{'connected_gene': 'FDXR', 'score': 0.77}, {'connected_gene': 'GRIN2C', 'score': 0.44}]
chr17 GH17I074864 74864800 74865148 1.22 [{'connected_gene': 'FDXR', 'score': 5.68}, {'connected_gene': 'GRIN2C', 'score': 0.77}]
chr17 GH17I074866 74865219 74865388 0.78 [{'connected_gene': 'FDXR', 'score': 19.19}, {'connected_gene': 'GRIN2C', 'score': 0.77}]
chr17 GH17I074869 74869417 74869444 0.54 [{'connected_gene': 'FDXR', 'score': 0.77}, {'connected_gene': 'GRIN2C', 'score': 0.44}]
chr17 GH17I074865 74865491 74867069 0.49 [{'connected_gene': 'FDXR', 'score': 19.69}, {'connected_gene': 'GRIN2C', 'score': 12.23}]
chr17 GH17I074868 74868762 74868821 1.43 [{'connected_gene': 'FDXR', 'score': 550.77}, {'connected_gene': 'GGA3', 'score': 11.39}, {'connected_gene': 'ENSG00000270993', 'score': 9.84}, {'connected_gene': 'GRIN2C', 'score': 0.44}]
chr17 GH17I075808 75808211 75810519 1.28 [{'connected_gene': 'METTL23', 'score': 11.61}, {'connected_gene': 'ENSG00000266980', 'score': 11.25}, {'connected_gene': 'NUP85', 'score': 10.94}, {'connected_gene': 'GGA3', 'score': 10.66}, {'connected_gene': 'SLC25A19', 'score': 10.06}, {'connected_gene': 'MFSD11', 'score': 9.71}, {'connected_gene': 'EVPL', 'score': 4.83}, {'connected_gene': 'FDXR', 'score': 4.36}, {'connected_gene': 'UNK', 'score': 0.34}, {'connected_gene': 'GC17M075783', 'score': 0.34}, {'connected_gene': 'H3F3B', 'score': 0.34}]
chr17 GH17I074840 74840546 74843945 1.18 [{'connected_gene': 'PIR37943', 'score': 550.77}, {'connected_gene': 'GRIN2C', 'score': 14.71}, {'connected_gene': 'FDXR', 'score': 11.4}, {'connected_gene': 'FADS6', 'score': 10.95}, {'connected_gene': 'PIR51683', 'score': 0.28}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.