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
ENST00000579973 [[24034873, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081214], [24209110, 24209201], [24220274, 24220308]] [[24035706, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081199]]
ENST00000417602 [[24034876, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081214], [24126691, 24128500]] [[24035706, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081214], [24126691, 24128500]]
ENST00000317932 [[24034876, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081214], [24209110, 24209206]] [[24035706, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081199]]
ENST00000408011 [[24034937, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081214], [24128854, 24129399]] [[24035706, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081199]]
ENST00000580059 [[24035461, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081214], [24126691, 24127082]] [[24035706, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081199]]
ENST00000580191 [[24035723, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081214], [24237323, 24237365]] [[24035723, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081214], [24237323, 24237332]]
ENST00000580638 [[24035855, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081214], [24129692, 24129783]] [[24035855, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081199]]
ENST00000578973 [[24039752, 24039889], [24081035, 24081214], [24126691, 24126963]] [[24039752, 24039889], [24081035, 24081199]]
ENST00000577255 [[24035676, 24039889], [24056478, 24056855]] None
ENST00000582494 [[24035733, 24035865], [24039583, 24039889], [24040769, 24040840]] None
ENST00000584630 [[24161125, 24161693], [24237323, 24237358]] None
NM_001142730 [[24034873, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081214], [24126691, 24128500]] [[24035706, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081214], [24126691, 24128500]]
NM_001136205 [[24034873, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081214], [24128854, 24129399]] [[24035706, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081199]]
NM_001258221 [[24034873, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081214], [24129692, 24129778]] [[24035706, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081199]]
NM_198991 [[24034873, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081214], [24209110, 24209201], [24220274, 24220308]] [[24035706, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081199]]
NM_001258222 [[24034873, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081214], [24237323, 24237365]] [[24035706, 24035865], [24039583, 24039889], [24056478, 24056623], [24081035, 24081214], [24237323, 24237332]]
Promoter
Chrom Start End Description
chr18 24128496 24128554 CAGE_peak_1_at_KCTD1_5end
chr18 24128565 24128581 CAGE_peak_4_at_KCTD1_5end
chr18 24128583 24128588 CAGE_peak_12_at_KCTD1_5end
chr18 24129045 24129064 CAGE_peak_5_at_KCTD1_5end
chr18 24129073 24129122 CAGE_peak_2_at_KCTD1_5end
chr18 24129157 24129185 CAGE_peak_6_at_KCTD1_5end
chr18 24129225 24129240 CAGE_peak_7_at_KCTD1_5end
chr18 24129301 24129313 CAGE_peak_15_at_KCTD1_5end
chr18 24129367 24129440 CAGE_peak_3_at_KCTD1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I026660 26660601 26660800 0.38 [{'connected_gene': 'PCAT18', 'score': 10.09}, {'connected_gene': 'KCTD1', 'score': 0.77}, {'connected_gene': 'AQP4-AS1', 'score': 0.77}, {'connected_gene': 'LOC102725227', 'score': 0.44}, {'connected_gene': 'ENSG00000263677', 'score': 0.31}]
chr18 GH18I026757 26757324 26758086 0.56 [{'connected_gene': 'PCAT18', 'score': 14.09}, {'connected_gene': 'KCTD1', 'score': 10.48}, {'connected_gene': 'GC18P026799', 'score': 0.26}, {'connected_gene': 'AQP4-AS1', 'score': 0.15}]
chr18 GH18I026714 26714880 26715479 0.2 [{'connected_gene': 'PCAT18', 'score': 11.91}, {'connected_gene': 'KCTD1', 'score': 9.07}, {'connected_gene': 'AQP4-AS1', 'score': 0.22}, {'connected_gene': 'GC18P026799', 'score': 0.18}]
chr18 GH18I026715 26715866 26717909 0.31 [{'connected_gene': 'PCAT18', 'score': 16.33}, {'connected_gene': 'KCTD1', 'score': 9.25}, {'connected_gene': 'AQP4-AS1', 'score': 5.33}, {'connected_gene': 'GC18P026799', 'score': 0.18}]
chr18 GH18I026701 26701801 26702517 0.71 [{'connected_gene': 'PCAT18', 'score': 563.82}, {'connected_gene': 'KCTD1', 'score': 7.83}, {'connected_gene': 'ENSG00000275900', 'score': 0.39}, {'connected_gene': 'GC18M026690', 'score': 0.39}, {'connected_gene': 'AQP4-AS1', 'score': 0.25}]
chr18 GH18I026744 26744917 26748400 0.98 [{'connected_gene': 'PCAT18', 'score': 15.32}, {'connected_gene': 'KCTD1', 'score': 14.64}, {'connected_gene': 'AQP4-AS1', 'score': 4.99}, {'connected_gene': 'GC18P026799', 'score': 0.23}]
chr18 GH18I026645 26645646 26646610 0.2 [{'connected_gene': 'PCAT18', 'score': 8.25}, {'connected_gene': 'LOC102725227', 'score': 0.44}, {'connected_gene': 'KCTD1', 'score': 0.39}, {'connected_gene': 'CIAPIN1P', 'score': 0.25}]
chr18 GH18I026616 26616713 26618098 0.75 [{'connected_gene': 'CIAPIN1P', 'score': 0.37}, {'connected_gene': 'KCTD1', 'score': 0.28}, {'connected_gene': 'LOC102725227', 'score': 0.28}]
chr18 GH18I026621 26621201 26621781 0.63 [{'connected_gene': 'CIAPIN1P', 'score': 0.34}, {'connected_gene': 'LOC102725227', 'score': 0.29}, {'connected_gene': 'KCTD1', 'score': 0.28}]
chr18 GH18I026224 26224621 26228561 2.05 [{'connected_gene': 'TAF4B', 'score': 557.53}, {'connected_gene': 'GC18M026382', 'score': 550.77}, {'connected_gene': 'SS18', 'score': 11.17}, {'connected_gene': 'KCTD1', 'score': 4.82}, {'connected_gene': 'PIR33021', 'score': 0.44}]
chr18 GH18I026958 26956430 26956533 0.25 [{'connected_gene': 'AQP4', 'score': 10.13}, {'connected_gene': 'CHST9', 'score': 1.66}, {'connected_gene': 'KCTD1', 'score': 1.63}, {'connected_gene': 'ATP6V1E1P2', 'score': 0.77}, {'connected_gene': 'GC18P026996', 'score': 0.26}, {'connected_gene': 'AQP4-AS1', 'score': 0.06}]
chr18 GH18I026866 26866381 26866523 0.22 [{'connected_gene': 'AQP4', 'score': 557.43}, {'connected_gene': 'KCTD1', 'score': 1.59}, {'connected_gene': 'CHST9', 'score': 1.38}, {'connected_gene': 'GC18M026877', 'score': 0.37}, {'connected_gene': 'AQP4-AS1', 'score': 0.08}]
chr18 GH18I026723 26723967 26724627 0.31 [{'connected_gene': 'KCTD1', 'score': 15.32}, {'connected_gene': 'PCAT18', 'score': 8.44}, {'connected_gene': 'AQP4-AS1', 'score': 0.2}, {'connected_gene': 'GC18P026799', 'score': 0.18}]
chr18 GH18I026713 26713888 26714748 0.2 [{'connected_gene': 'KCTD1', 'score': 7.46}, {'connected_gene': 'PCAT18', 'score': 0.39}, {'connected_gene': 'AQP4-AS1', 'score': 0.22}, {'connected_gene': 'GC18P026799', 'score': 0.17}]
chr18 GH18I026599 26599309 26599368 0.5 [{'connected_gene': 'KCTD1', 'score': 561.43}, {'connected_gene': 'CIAPIN1P', 'score': 550.77}, {'connected_gene': 'LOC102725227', 'score': 0.22}]
chr18 GH18I026655 26655581 26658138 2.03 [{'connected_gene': 'KCTD1', 'score': 550.77}, {'connected_gene': 'AQP4-AS1', 'score': 550.77}, {'connected_gene': 'PCAT18', 'score': 9.43}, {'connected_gene': 'LOC102725227', 'score': 0.77}]
chr18 GH18I026706 26706512 26707600 0.6 [{'connected_gene': 'KCTD1', 'score': 7.15}, {'connected_gene': 'AQP4-AS1', 'score': 4.46}, {'connected_gene': 'PCAT18', 'score': 0.77}, {'connected_gene': 'GC18P026799', 'score': 0.16}]
chr18 GH18I026671 26671854 26672202 0.22 [{'connected_gene': 'KCTD1', 'score': 5.53}, {'connected_gene': 'ENSG00000263677', 'score': 0.37}, {'connected_gene': 'AQP4-AS1', 'score': 0.37}, {'connected_gene': 'LOC102725227', 'score': 0.37}]
chr18 GH18I026363 26363368 26363423 0.23 [{'connected_gene': 'KCTD1', 'score': 3.02}, {'connected_gene': 'RNU6-1289P', 'score': 0.77}, {'connected_gene': 'GC18M026369', 'score': 0.77}, {'connected_gene': 'GC18P026349', 'score': 0.37}, {'connected_gene': 'TAF4B', 'score': 0.12}]
chr18 GH18I026642 26642277 26643400 0.63 [{'connected_gene': 'KCTD1', 'score': 0.39}, {'connected_gene': 'LOC102725227', 'score': 0.39}, {'connected_gene': 'CIAPIN1P', 'score': 0.26}]
chr18 GH18I026640 26640235 26640294 0.7 [{'connected_gene': 'KCTD1', 'score': 550.37}, {'connected_gene': 'LOC102725227', 'score': 0.39}, {'connected_gene': 'CIAPIN1P', 'score': 0.26}]
chr18 GH18I026649 26649317 26649595 0.72 [{'connected_gene': 'KCTD1', 'score': 0.44}, {'connected_gene': 'LOC102725227', 'score': 0.44}, {'connected_gene': 'CIAPIN1P', 'score': 0.23}]
chr18 GH18I026457 26457909 26459417 0.95 [{'connected_gene': 'KCTD1', 'score': 5.71}, {'connected_gene': 'GC18M026482', 'score': 0.34}, {'connected_gene': 'LINC01543', 'score': 0.28}]
chr18 GH18I026477 26477146 26484320 1.17 [{'connected_gene': 'KCTD1', 'score': 5.74}, {'connected_gene': 'GC18M026482', 'score': 0.77}, {'connected_gene': 'LINC01543', 'score': 0.22}]
chr18 GH18I026460 26459989 26461759 0.71 [{'connected_gene': 'KCTD1', 'score': 8.77}, {'connected_gene': 'GC18M026482', 'score': 0.34}, {'connected_gene': 'LINC01543', 'score': 0.28}]
chr18 GH18I026957 26957564 26957685 0.22 [{'connected_gene': 'KCTD1', 'score': 1.64}, {'connected_gene': 'ATP6V1E1P2', 'score': 0.44}, {'connected_gene': 'GC18P026996', 'score': 0.28}, {'connected_gene': 'CHST9', 'score': 0.07}, {'connected_gene': 'AQP4-AS1', 'score': 0.06}]
chr18 GH18I026531 26531708 26532179 0.31 [{'connected_gene': 'KCTD1', 'score': 22.08}, {'connected_gene': 'ENSG00000277534', 'score': 0.39}, {'connected_gene': 'GC18M026482', 'score': 0.25}]
chr18 GH18I026579 26579644 26580746 0.8 [{'connected_gene': 'KCTD1', 'score': 10.86}, {'connected_gene': 'GC18P026583', 'score': 0.77}, {'connected_gene': 'ENSG00000275805', 'score': 0.77}]
chr18 GH18I026536 26536037 26536186 0.31 [{'connected_gene': 'KCTD1', 'score': 7.72}, {'connected_gene': 'ENSG00000277534', 'score': 0.44}, {'connected_gene': 'GC18M026482', 'score': 0.23}]
chr18 GH18I026539 26539596 26541251 0.63 [{'connected_gene': 'KCTD1', 'score': 6.92}, {'connected_gene': 'ENSG00000277534', 'score': 0.44}, {'connected_gene': 'GC18M026482', 'score': 0.22}]
chr18 GH18I026545 26545179 26551286 1.91 [{'connected_gene': 'KCTD1', 'score': 550.14}, {'connected_gene': 'ENSG00000277534', 'score': 0.77}, {'connected_gene': 'GC18P026566', 'score': 0.37}]
chr18 GH18I026532 26532477 26532666 0.38 [{'connected_gene': 'KCTD1', 'score': 20.47}, {'connected_gene': 'ENSG00000277534', 'score': 0.39}, {'connected_gene': 'GC18M026482', 'score': 0.25}]
chr18 GH18I026826 26826777 26826926 0.2 [{'connected_gene': 'LOC105372035', 'score': 550.77}, {'connected_gene': 'KCTD1', 'score': 9.78}, {'connected_gene': 'LOC440489', 'score': 0.44}, {'connected_gene': 'GC18P026802', 'score': 0.34}, {'connected_gene': 'AQP4-AS1', 'score': 0.09}]
chr18 GH18I026650 26649817 26649986 0.89 [{'connected_gene': 'LOC102725227', 'score': 0.77}, {'connected_gene': 'KCTD1', 'score': 0.44}, {'connected_gene': 'CIAPIN1P', 'score': 0.23}]
chr18 GH18I026686 26686927 26687255 0.6 [{'connected_gene': 'ENSG00000263677', 'score': 550.77}, {'connected_gene': 'KCTD1', 'score': 0.31}, {'connected_gene': 'AQP4-AS1', 'score': 0.29}, {'connected_gene': 'LOC102725227', 'score': 0.29}]
chr18 GH18I026687 26687258 26687372 0.42 [{'connected_gene': 'ENSG00000263677', 'score': 550.77}, {'connected_gene': 'KCTD1', 'score': 2.66}, {'connected_gene': 'AQP4-AS1', 'score': 0.29}, {'connected_gene': 'LOC102725227', 'score': 0.29}]
chr18 GH18I025735 25735759 25740908 0.54 [{'connected_gene': 'GC18M026345', 'score': 550.77}, {'connected_gene': 'GC18M026373', 'score': 550.77}, {'connected_gene': 'GC18M026347', 'score': 550.77}, {'connected_gene': 'PIR50780', 'score': 550.77}, {'connected_gene': 'PIR43268', 'score': 550.77}, {'connected_gene': 'GC18M026329', 'score': 550.77}, {'connected_gene': 'PIR49928', 'score': 550.77}, {'connected_gene': 'GC18M026365', 'score': 550.77}, {'connected_gene': 'PIR58363', 'score': 550.77}, {'connected_gene': 'PIR33683', 'score': 550.77}, {'connected_gene': 'PIR41526', 'score': 550.77}, {'connected_gene': 'GC18M026331', 'score': 550.77}, {'connected_gene': 'GC18M026324', 'score': 550.77}, {'connected_gene': 'GC18M026362', 'score': 550.77}, {'connected_gene': 'PIR45668', 'score': 550.77}, {'connected_gene': 'PIR54814', 'score': 550.77}, {'connected_gene': 'GC18M026322', 'score': 550.77}, {'connected_gene': 'PIR41661', 'score': 550.77}, {'connected_gene': 'KCTD1', 'score': 5.34}, {'connected_gene': 'GC18M026308', 'score': 0.77}, {'connected_gene': 'PIR36086', 'score': 0.77}]
chr18 GH18I026574 26574757 26575953 1.31 [{'connected_gene': 'ENSG00000275805', 'score': 550.77}, {'connected_gene': 'GC18P026566', 'score': 0.44}, {'connected_gene': 'KCTD1', 'score': 0.18}]
chr18 GH18I026525 26525900 26526710 0.56 [{'connected_gene': 'ENSG00000277534', 'score': 0.37}, {'connected_gene': 'GC18M026482', 'score': 0.26}, {'connected_gene': 'KCTD1', 'score': 0.12}]
chr18 GH18I026513 26513306 26514897 0.38 [{'connected_gene': 'GC18M026482', 'score': 0.29}, {'connected_gene': 'ENSG00000277534', 'score': 0.29}, {'connected_gene': 'KCTD1', 'score': 0.11}]
chr18 GH18I026543 26543601 26544000 0.31 [{'connected_gene': 'ENSG00000277534', 'score': 550.77}, {'connected_gene': 'KCTD1', 'score': 6.02}, {'connected_gene': 'GC18M026482', 'score': 0.21}]
chr18 GH18I026486 26486498 26491107 1.01 [{'connected_gene': 'GC18M026482', 'score': 0.44}, {'connected_gene': 'ENSG00000277534', 'score': 0.22}, {'connected_gene': 'KCTD1', 'score': 0.1}]
chr18 GH18I026459 26457757 26457846 0.2 [{'connected_gene': 'GC18M026482', 'score': 0.31}, {'connected_gene': 'LINC01543', 'score': 0.29}, {'connected_gene': 'KCTD1', 'score': 0.08}]
chr18 GH18I026458 26457872 26457906 0.43 [{'connected_gene': 'GC18M026482', 'score': 0.31}, {'connected_gene': 'LINC01543', 'score': 0.29}, {'connected_gene': 'KCTD1', 'score': 0.08}]
chr18 GH18I026468 26468957 26469106 0.76 [{'connected_gene': 'GC18M026482', 'score': 0.39}, {'connected_gene': 'LINC01543', 'score': 0.25}, {'connected_gene': 'KCTD1', 'score': 0.09}]
chr18 GH18I026469 26469577 26471015 0.76 [{'connected_gene': 'GC18M026482', 'score': 0.39}, {'connected_gene': 'LINC01543', 'score': 0.25}, {'connected_gene': 'KCTD1', 'score': 0.09}]

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