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
ENST00000546530 [[113536623, 113537873], [113538432, 113538485], [113539693, 113539814], [113541750, 113541886], [113541965, 113542103], [113543518, 113543691], [113544901, 113545046], [113545889, 113546030], [113549890, 113550083], [113552604, 113552717], [113553004, 113553069], [113553439, 113553593], [113553738, 113553856], [113554877, 113554966], [113556932, 113557064], [113557166, 113557248], [113559313, 113559443], [113565616, 113565678], [113565869, 113565983], [113568689, 113568746], [113573202, 113573404], [113573880, 113574029]] [[113537733, 113537873], [113538432, 113538485], [113539693, 113539814], [113541750, 113541886], [113541965, 113542103], [113543518, 113543691], [113544901, 113545046], [113545889, 113546030], [113549890, 113550083], [113552604, 113552717], [113553004, 113553069], [113553439, 113553593], [113553738, 113553856], [113554877, 113554966], [113556932, 113557064], [113557166, 113557248], [113559313, 113559443], [113565616, 113565678], [113565869, 113565983], [113568689, 113568746], [113573202, 113573267]]
ENST00000261729 [[113537082, 113537873], [113538432, 113538485], [113539693, 113539814], [113541750, 113541886], [113541965, 113542103], [113543518, 113543688], [113544901, 113545046], [113545889, 113546027], [113549890, 113550083], [113552604, 113552717], [113553004, 113553069], [113553439, 113553593], [113553738, 113553856], [113554877, 113554966], [113556932, 113557064], [113557166, 113557248], [113559313, 113559443], [113565616, 113565678], [113565869, 113565983], [113568689, 113568746], [113573202, 113573404], [113573865, 113574044]] [[113537733, 113537873], [113538432, 113538485], [113539693, 113539814], [113541750, 113541886], [113541965, 113542103], [113543518, 113543688], [113544901, 113545046], [113545889, 113546027], [113549890, 113550083], [113552604, 113552717], [113553004, 113553069], [113553439, 113553593], [113553738, 113553856], [113554877, 113554966], [113556932, 113557064], [113557166, 113557248], [113559313, 113559443], [113565616, 113565678], [113565869, 113565983], [113568689, 113568746], [113573202, 113573267]]
ENST00000446861 [[113537312, 113537873], [113538432, 113538485], [113539693, 113539814], [113541750, 113541886], [113541965, 113542019], [113543518, 113543688], [113544901, 113545046], [113545889, 113546027], [113549890, 113550083], [113552604, 113552717], [113553004, 113553069], [113553439, 113553593], [113553738, 113553856], [113554877, 113554966], [113556932, 113557064], [113557166, 113557248], [113559313, 113559443], [113565616, 113565678], [113565869, 113565983], [113568689, 113568746], [113573202, 113573555]] [[113537733, 113537873], [113538432, 113538485], [113539693, 113539814], [113541750, 113541886], [113541965, 113542019], [113543518, 113543688], [113544901, 113545046], [113545889, 113546027], [113549890, 113550083], [113552604, 113552717], [113553004, 113553069], [113553439, 113553593], [113553738, 113553856], [113554877, 113554966], [113556932, 113557064], [113557166, 113557248], [113559313, 113559443], [113565616, 113565678], [113565869, 113565983], [113568689, 113568746], [113573202, 113573267]]
ENST00000549444 [[113537316, 113537873], [113538432, 113538485], [113539693, 113539814], [113540740, 113540904]] None
ENST00000548055 [[113537691, 113537873], [113538432, 113538485], [113539693, 113539814], [113541750, 113541886], [113541965, 113542103], [113543518, 113543691], [113544901, 113545046], [113545889, 113546027], [113549890, 113550083], [113552604, 113552717], [113553004, 113553069], [113553439, 113553593], [113553738, 113553856], [113554877, 113554966], [113556932, 113557064], [113557166, 113557248], [113559313, 113559443], [113565616, 113565678], [113565869, 113565983], [113568689, 113568746], [113573202, 113573309]] [[113537733, 113537873], [113538432, 113538485], [113539693, 113539814], [113541750, 113541886], [113541965, 113542103], [113543518, 113543691], [113544901, 113545046], [113545889, 113546027], [113549890, 113550083], [113552604, 113552717], [113553004, 113553069], [113553439, 113553593], [113553738, 113553856], [113554877, 113554966], [113556932, 113557064], [113557166, 113557248], [113559313, 113559443], [113565616, 113565678], [113565869, 113565983], [113568689, 113568746], [113573202, 113573267]]
ENST00000551051 [[113537692, 113537873], [113538432, 113538485], [113539693, 113539814], [113541750, 113541886], [113541965, 113542103], [113543518, 113543691], [113544901, 113545046], [113545889, 113546027], [113552604, 113552717], [113553004, 113553069], [113553439, 113553593], [113553738, 113553856], [113554877, 113554966], [113556932, 113557064], [113557166, 113557248], [113559313, 113559443], [113565616, 113565983], [113568689, 113568746], [113573202, 113573543]] None
ENST00000546727 [[113537696, 113537873], [113538432, 113538485], [113543518, 113543691], [113544901, 113545400], [113545889, 113546030], [113549890, 113550083], [113552604, 113552717], [113553004, 113553069], [113553439, 113553593], [113553738, 113553856], [113554877, 113554966], [113556932, 113557248], [113559313, 113559443], [113565616, 113565678], [113565869, 113565983], [113568689, 113568746], [113573202, 113573309]] None
ENST00000418411 [[113540844, 113540896], [113541750, 113541886], [113541965, 113542103], [113543518, 113543691], [113544901, 113545046], [113545889, 113546027], [113549890, 113550083], [113552604, 113552717], [113553004, 113553069], [113553439, 113553593], [113553738, 113553856], [113554877, 113554966], [113556932, 113557064], [113557166, 113557248], [113559313, 113559443], [113565616, 113565678], [113565869, 113565983], [113568689, 113568746], [113573202, 113573404], [113573865, 113574044]] None
ENST00000548972 [[113545020, 113545400], [113545889, 113546027], [113549890, 113550083], [113552604, 113552717], [113553004, 113553069], [113553439, 113553593], [113553738, 113553856], [113554877, 113554966], [113556932, 113557064], [113557166, 113557248], [113559313, 113559443], [113565616, 113565678], [113565869, 113565983], [113568689, 113568746], [113573202, 113573555]] None
ENST00000547810 [[113553486, 113553593], [113553738, 113553856], [113573202, 113573559]] None
NM_001301202 [[113536623, 113537873], [113538432, 113538485], [113539693, 113539814], [113541750, 113541886], [113541965, 113542103], [113543518, 113543691], [113544901, 113545046], [113545889, 113546027], [113549890, 113550083], [113552604, 113552717], [113553004, 113553069], [113553439, 113553593], [113553738, 113553856], [113554877, 113554966], [113556932, 113557064], [113557166, 113557248], [113559313, 113559443], [113565616, 113565678], [113565869, 113565983], [113568689, 113568746], [113573202, 113573404]] [[113537733, 113537873], [113538432, 113538485], [113539693, 113539814], [113541750, 113541886], [113541965, 113542103], [113543518, 113543691], [113544901, 113545046], [113545889, 113546027], [113549890, 113550083], [113552604, 113552717], [113553004, 113553069], [113553439, 113553593], [113553738, 113553856], [113554877, 113554966], [113556932, 113557064], [113557166, 113557248], [113559313, 113559443], [113565616, 113565678], [113565869, 113565983], [113568689, 113568746], [113573202, 113573267]]
NM_001193521 [[113536623, 113537873], [113538432, 113538485], [113539693, 113539814], [113541750, 113541886], [113541965, 113542019], [113543518, 113543688], [113544901, 113545046], [113545889, 113546027], [113549890, 113550083], [113552604, 113552717], [113553004, 113553069], [113553439, 113553593], [113553738, 113553856], [113554877, 113554966], [113556932, 113557064], [113557166, 113557248], [113559313, 113559443], [113565616, 113565678], [113565869, 113565983], [113568689, 113568746], [113573202, 113573559]] [[113537733, 113537873], [113538432, 113538485], [113539693, 113539814], [113541750, 113541886], [113541965, 113542019], [113543518, 113543688], [113544901, 113545046], [113545889, 113546027], [113549890, 113550083], [113552604, 113552717], [113553004, 113553069], [113553439, 113553593], [113553738, 113553856], [113554877, 113554966], [113556932, 113557064], [113557166, 113557248], [113559313, 113559443], [113565616, 113565678], [113565869, 113565983], [113568689, 113568746], [113573202, 113573267]]
NM_004658 [[113536623, 113537873], [113538432, 113538485], [113539693, 113539814], [113541750, 113541886], [113541965, 113542103], [113543518, 113543688], [113544901, 113545046], [113545889, 113546027], [113549890, 113550083], [113552604, 113552717], [113553004, 113553069], [113553439, 113553593], [113553738, 113553856], [113554877, 113554966], [113556932, 113557064], [113557166, 113557248], [113559313, 113559443], [113565616, 113565678], [113565869, 113565983], [113568689, 113568746], [113573202, 113573404], [113573865, 113574044]] [[113537733, 113537873], [113538432, 113538485], [113539693, 113539814], [113541750, 113541886], [113541965, 113542103], [113543518, 113543688], [113544901, 113545046], [113545889, 113546027], [113549890, 113550083], [113552604, 113552717], [113553004, 113553069], [113553439, 113553593], [113553738, 113553856], [113554877, 113554966], [113556932, 113557064], [113557166, 113557248], [113559313, 113559443], [113565616, 113565678], [113565869, 113565983], [113568689, 113568746], [113573202, 113573267]]
NM_001193520 [[113536623, 113537873], [113538432, 113538485], [113539693, 113539814], [113541750, 113541886], [113541965, 113542103], [113543518, 113543691], [113544901, 113545046], [113545889, 113546030], [113549890, 113550083], [113552604, 113552717], [113553004, 113553069], [113553439, 113553593], [113553738, 113553856], [113554877, 113554966], [113556932, 113557064], [113557166, 113557248], [113559313, 113559443], [113565616, 113565678], [113565869, 113565983], [113568689, 113568746], [113573202, 113573404], [113573880, 113574044]] [[113537733, 113537873], [113538432, 113538485], [113539693, 113539814], [113541750, 113541886], [113541965, 113542103], [113543518, 113543691], [113544901, 113545046], [113545889, 113546030], [113549890, 113550083], [113552604, 113552717], [113553004, 113553069], [113553439, 113553593], [113553738, 113553856], [113554877, 113554966], [113556932, 113557064], [113557166, 113557248], [113559313, 113559443], [113565616, 113565678], [113565869, 113565983], [113568689, 113568746], [113573202, 113573267]]
Promoter
Chrom Start End Description
chr12 113573495 113573579 CAGE_peak_1_at_RASAL1_5end
chr12 113574028 113574051 CAGE_peak_2_at_RASAL1_5end
chr12 113574052 113574067 CAGE_peak_3_at_RASAL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I113119 113119139 113121697 0.63 [{'connected_gene': 'RBM19', 'score': 13.63}, {'connected_gene': 'RASAL1', 'score': 8.1}, {'connected_gene': 'GC12P113070', 'score': 0.23}]
chr12 GH12I113303 113303016 113303185 0.66 [{'connected_gene': 'RBM19', 'score': 20.53}, {'connected_gene': 'DDX54', 'score': 9.92}, {'connected_gene': 'RASAL1', 'score': 8.13}, {'connected_gene': 'GC12P113300', 'score': 0.77}, {'connected_gene': 'GC12M113308', 'score': 0.39}, {'connected_gene': 'SLC8B1', 'score': 0.22}]
chr12 GH12I113127 113127566 113128817 0.87 [{'connected_gene': 'RBM19', 'score': 43.76}, {'connected_gene': 'DDX54', 'score': 18.36}, {'connected_gene': 'RPL6', 'score': 13.71}, {'connected_gene': 'RASAL1', 'score': 12.13}, {'connected_gene': 'SLC8B1', 'score': 12.05}, {'connected_gene': 'GC12P113070', 'score': 0.22}]
chr12 GH12I113251 113251528 113252814 0.51 [{'connected_gene': 'RITA1', 'score': 21.84}, {'connected_gene': 'RASAL1', 'score': 13.26}, {'connected_gene': 'IQCD', 'score': 11.99}, {'connected_gene': 'TPCN1', 'score': 11.99}, {'connected_gene': 'DDX54', 'score': 11.2}, {'connected_gene': 'ENSG00000201208', 'score': 11.19}, {'connected_gene': 'PLBD2', 'score': 10.65}, {'connected_gene': 'ENSG00000277566', 'score': 0.77}, {'connected_gene': 'GC12M113256', 'score': 0.37}]
chr12 GH12I113235 113235709 113249082 1.44 [{'connected_gene': 'RITA1', 'score': 24.37}, {'connected_gene': 'RASAL1', 'score': 13.27}, {'connected_gene': 'IQCD', 'score': 12.04}, {'connected_gene': 'TPCN1', 'score': 12.04}, {'connected_gene': 'DDX54', 'score': 11.5}, {'connected_gene': 'ENSG00000201208', 'score': 11.49}, {'connected_gene': 'PLBD2', 'score': 11.07}, {'connected_gene': 'ENSG00000277566', 'score': 0.44}]
chr12 GH12I113265 113265764 113270135 0.46 [{'connected_gene': 'RASAL1', 'score': 13.24}, {'connected_gene': 'RITA1', 'score': 11.9}, {'connected_gene': 'GC12M113256', 'score': 0.77}, {'connected_gene': 'ENSG00000277566', 'score': 0.37}, {'connected_gene': 'TPCN1', 'score': 0.25}]
chr12 GH12I113137 113137948 113139697 0.38 [{'connected_gene': 'RASAL1', 'score': 14.04}, {'connected_gene': 'CFAP73', 'score': 0.39}]
chr12 GH12I113294 113294616 113295918 0.2 [{'connected_gene': 'RASAL1', 'score': 10.74}, {'connected_gene': 'MIR6762', 'score': 0.77}, {'connected_gene': 'GC12M113299', 'score': 0.77}, {'connected_gene': 'TPCN1', 'score': 0.19}]
chr12 GH12I113110 113110036 113110185 0.4 [{'connected_gene': 'RASAL1', 'score': 0.31}, {'connected_gene': 'GC12P113070', 'score': 0.28}]
chr12 GH12I113103 113103376 113104595 1 [{'connected_gene': 'RASAL1', 'score': 6.8}, {'connected_gene': 'GC12P113070', 'score': 0.29}]
chr12 GH12I113134 113134580 113137451 1.82 [{'connected_gene': 'RASAL1', 'score': 568.48}, {'connected_gene': 'GC12P113070', 'score': 0.2}]
chr12 GH12I113111 113110336 113110485 0.4 [{'connected_gene': 'RASAL1', 'score': 6.79}, {'connected_gene': 'GC12P113070', 'score': 0.26}]
chr12 GH12I113130 113130836 113130965 0.74 [{'connected_gene': 'RASAL1', 'score': 0.44}, {'connected_gene': 'GC12P113070', 'score': 0.21}]
chr12 GH12I113112 113112961 113114172 0.31 [{'connected_gene': 'RASAL1', 'score': 6.79}, {'connected_gene': 'GC12P113070', 'score': 0.26}]
chr12 GH12I113115 113115915 113118087 0.54 [{'connected_gene': 'RASAL1', 'score': 6.11}, {'connected_gene': 'GC12P113070', 'score': 0.25}]
chr12 GH12I113105 113105396 113107499 0.49 [{'connected_gene': 'RASAL1', 'score': 7.1}, {'connected_gene': 'GC12P113070', 'score': 0.28}]
chr12 GH12I113220 113220237 113224478 2.53 [{'connected_gene': 'TPCN1', 'score': 552.58}, {'connected_gene': 'IQCD', 'score': 550.77}, {'connected_gene': 'RITA1', 'score': 24.18}, {'connected_gene': 'RASAL1', 'score': 13.18}, {'connected_gene': 'DDX54', 'score': 11.55}, {'connected_gene': 'ENSG00000201208', 'score': 11.54}, {'connected_gene': 'RBM19', 'score': 10.47}, {'connected_gene': 'ENSG00000277566', 'score': 0.31}]
chr12 GH12I113149 113149210 113150320 1.55 [{'connected_gene': 'CFAP73', 'score': 550.77}, {'connected_gene': 'RASAL1', 'score': 16.44}, {'connected_gene': 'ENSG00000201208', 'score': 11.69}, {'connected_gene': 'DDX54', 'score': 11.66}, {'connected_gene': 'RITA1', 'score': 11.66}, {'connected_gene': 'ENSG00000199899', 'score': 0.44}, {'connected_gene': 'GC12M113158', 'score': 0.44}]
chr12 GH12I113097 113097816 113097965 0.66 [{'connected_gene': 'DTX1', 'score': 12.31}, {'connected_gene': 'ENSG00000201208', 'score': 11.21}, {'connected_gene': 'DDX54', 'score': 11.2}, {'connected_gene': 'RITA1', 'score': 11.2}, {'connected_gene': 'GC12P113070', 'score': 0.31}, {'connected_gene': 'RASAL1', 'score': 0.28}]
chr12 GH12I113098 113098139 113099105 1.31 [{'connected_gene': 'DTX1', 'score': 12.31}, {'connected_gene': 'ENSG00000201208', 'score': 11.22}, {'connected_gene': 'DDX54', 'score': 11.2}, {'connected_gene': 'RITA1', 'score': 11.2}, {'connected_gene': 'RASAL1', 'score': 6.76}, {'connected_gene': 'GC12P113070', 'score': 0.31}]
chr12 GH12I113094 113094345 113096076 0.49 [{'connected_gene': 'DTX1', 'score': 12.33}, {'connected_gene': 'ENSG00000201208', 'score': 11.21}, {'connected_gene': 'DDX54', 'score': 11.19}, {'connected_gene': 'RITA1', 'score': 11.19}, {'connected_gene': 'RASAL1', 'score': 6.94}, {'connected_gene': 'GC12P113070', 'score': 0.34}]
chr12 GH12I113089 113089028 113090786 0.92 [{'connected_gene': 'DTX1', 'score': 12.97}, {'connected_gene': 'ENSG00000201208', 'score': 11.66}, {'connected_gene': 'DDX54', 'score': 11.65}, {'connected_gene': 'RITA1', 'score': 11.65}, {'connected_gene': 'CFAP73', 'score': 11.5}, {'connected_gene': 'RASAL1', 'score': 7.52}, {'connected_gene': 'GC12P113070', 'score': 0.37}]
chr12 GH12I113074 113074387 113076211 1.21 [{'connected_gene': 'DTX1', 'score': 8.67}, {'connected_gene': 'DDX54', 'score': 1.4}, {'connected_gene': 'GC12P113070', 'score': 0.44}, {'connected_gene': 'RASAL1', 'score': 0.21}]
chr12 GH12I113078 113078075 113079676 0.43 [{'connected_gene': 'DTX1', 'score': 7.11}, {'connected_gene': 'TPCN1', 'score': 4.77}, {'connected_gene': 'GC12P113070', 'score': 0.44}, {'connected_gene': 'RASAL1', 'score': 0.22}]
chr12 GH12I113086 113086158 113088145 1.41 [{'connected_gene': 'DTX1', 'score': 23.31}, {'connected_gene': 'CFAP73', 'score': 11.29}, {'connected_gene': 'RASAL1', 'score': 4.99}, {'connected_gene': 'GC12P113070', 'score': 0.37}]
chr12 GH12I113082 113082317 113083421 0.74 [{'connected_gene': 'DTX1', 'score': 19.25}, {'connected_gene': 'CFAP73', 'score': 11.28}, {'connected_gene': 'GC12P113070', 'score': 0.39}, {'connected_gene': 'RASAL1', 'score': 0.23}]
chr12 GH12I113092 113092706 113094327 1.11 [{'connected_gene': 'DTX1', 'score': 12.33}, {'connected_gene': 'CFAP73', 'score': 11.88}, {'connected_gene': 'ENSG00000201208', 'score': 11.2}, {'connected_gene': 'DDX54', 'score': 11.19}, {'connected_gene': 'RITA1', 'score': 11.19}, {'connected_gene': 'RASAL1', 'score': 7.2}, {'connected_gene': 'GC12P113070', 'score': 0.34}]
chr12 GH12I113141 113141449 113143564 1.14 [{'connected_gene': 'SDSL', 'score': 20.77}, {'connected_gene': 'RASAL1', 'score': 13.64}, {'connected_gene': 'SLC8B1', 'score': 9.17}, {'connected_gene': 'CFAP73', 'score': 5.07}, {'connected_gene': 'OAS2', 'score': 3.74}, {'connected_gene': 'OAS3', 'score': 3.47}, {'connected_gene': 'OAS1', 'score': 3.11}, {'connected_gene': 'SDS', 'score': 1.42}]
chr12 GH12I113291 113291856 113292626 0.2 [{'connected_gene': 'MIR6762', 'score': 550.77}, {'connected_gene': 'RITA1', 'score': 12.66}, {'connected_gene': 'RASAL1', 'score': 12.06}, {'connected_gene': 'GC12M113299', 'score': 0.44}, {'connected_gene': 'TPCN1', 'score': 0.19}]
chr12 GH12I113298 113297853 113300822 1.27 [{'connected_gene': 'GC12P113300', 'score': 550.77}, {'connected_gene': 'GC12M113299', 'score': 550.77}, {'connected_gene': 'RITA1', 'score': 11.04}, {'connected_gene': 'RASAL1', 'score': 10.73}, {'connected_gene': 'MIR6762', 'score': 0.44}, {'connected_gene': 'SLC8B1', 'score': 0.21}, {'connected_gene': 'TPCN1', 'score': 0.18}]
chr12 GH12I113069 113069404 113072264 1.56 [{'connected_gene': 'GC12P113070', 'score': 550.77}, {'connected_gene': 'ENSG00000201208', 'score': 11.58}, {'connected_gene': 'RITA1', 'score': 11.57}, {'connected_gene': 'DDX54', 'score': 11.57}, {'connected_gene': 'CFAP73', 'score': 11.53}, {'connected_gene': 'DTX1', 'score': 7.53}, {'connected_gene': 'PLBD2', 'score': 5.45}, {'connected_gene': 'SDSL', 'score': 4.87}, {'connected_gene': 'RASAL1', 'score': 0.2}]
chr12 GH12I113203 113203988 113205531 1.08 [{'connected_gene': 'GC12M113206', 'score': 550.77}, {'connected_gene': 'RASAL1', 'score': 12.42}, {'connected_gene': 'RITA1', 'score': 11.27}, {'connected_gene': 'ENSG00000257286', 'score': 0.39}, {'connected_gene': 'IQCD', 'score': 0.37}]
chr12 GH12I113207 113207401 113210010 1.31 [{'connected_gene': 'PIR32722', 'score': 550.77}, {'connected_gene': 'PIR32241', 'score': 550.77}, {'connected_gene': 'GC12M113226', 'score': 550.77}, {'connected_gene': 'PIR59579', 'score': 550.77}, {'connected_gene': 'RASAL1', 'score': 12.42}, {'connected_gene': 'OAS1', 'score': 11.8}, {'connected_gene': 'RITA1', 'score': 10.33}, {'connected_gene': 'IQCD', 'score': 0.39}, {'connected_gene': 'TPCN1', 'score': 0.39}]
chr12 GH12I113079 113079734 113081013 0.31 [{'connected_gene': 'GC12P113070', 'score': 0.39}, {'connected_gene': 'DTX1', 'score': 0.34}, {'connected_gene': 'RASAL1', 'score': 0.22}]
chr12 GH12I113270 113270881 113273195 1.51 [{'connected_gene': 'GC12M113256', 'score': 550.77}, {'connected_gene': 'SDSL', 'score': 19.16}, {'connected_gene': 'RASAL1', 'score': 13.23}, {'connected_gene': 'RITA1', 'score': 11.9}, {'connected_gene': 'SLC8B1', 'score': 10.88}, {'connected_gene': 'RBM19', 'score': 9.7}, {'connected_gene': 'OAS2', 'score': 3.59}, {'connected_gene': 'OAS3', 'score': 3.12}, {'connected_gene': 'OAS1', 'score': 2.39}, {'connected_gene': 'PLBD2', 'score': 1.53}, {'connected_gene': 'SDS', 'score': 1.28}, {'connected_gene': 'GC12P113288', 'score': 0.37}, {'connected_gene': 'TPCN1', 'score': 0.23}]

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