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
ENST00000356714 [[2281856, 2281891], [2284197, 2284361], [2289491, 2289637], [2290463, 2290780]] [[2284209, 2284361], [2289491, 2289637], [2290463, 2290636]]
ENST00000397049 [[2281856, 2281891], [2282559, 2282683], [2284197, 2284361], [2289491, 2289637], [2290463, 2290780]] [[2282626, 2282683], [2284197, 2284361], [2289491, 2289637], [2290463, 2290636]]
ENST00000397046 [[2281893, 2281927], [2282559, 2282610], [2284197, 2284361], [2289491, 2289637], [2290463, 2290780]] [[2284209, 2284361], [2289491, 2289637], [2290463, 2290636]]
ENST00000397048 [[2281895, 2281927], [2282559, 2282683], [2284197, 2284361], [2289491, 2289637], [2290463, 2290780]] [[2282626, 2282683], [2284197, 2284361], [2289491, 2289637], [2290463, 2290636]]
ENST00000454650 [[2281911, 2282610], [2284197, 2284320]] [[2284209, 2284320]]
ENST00000343985 [[2282539, 2282683], [2284197, 2284361], [2289491, 2289637], [2290463, 2290780]] [[2282626, 2282683], [2284197, 2284361], [2289491, 2289637], [2290463, 2290636]]
ENST00000339737 [[2282539, 2282610], [2284197, 2284361], [2289491, 2289637], [2290463, 2290780]] [[2284209, 2284361], [2289491, 2289637], [2290463, 2290636]]
ENST00000471348 [[2284243, 2284361], [2287659, 2287804]] None
ENST00000487426 [[2288919, 2289327], [2289491, 2289637], [2290463, 2290781]] None
NM_002452 [[2281856, 2281891], [2284197, 2284361], [2289491, 2289637], [2290463, 2290780]] [[2284209, 2284361], [2289491, 2289637], [2290463, 2290636]]
NM_198948 [[2281856, 2281891], [2282559, 2282610], [2284197, 2284361], [2289491, 2289637], [2290463, 2290780]] [[2284209, 2284361], [2289491, 2289637], [2290463, 2290636]]
NM_198949 [[2281856, 2281891], [2282559, 2282683], [2284197, 2284361], [2289491, 2289637], [2290463, 2290780]] [[2282626, 2282683], [2284197, 2284361], [2289491, 2289637], [2290463, 2290636]]
NM_198950 [[2281895, 2281927], [2282559, 2282610], [2284197, 2284361], [2289491, 2289637], [2290463, 2290780]] [[2284209, 2284361], [2289491, 2289637], [2290463, 2290636]]
NM_198952 [[2281895, 2281927], [2282559, 2282683], [2284197, 2284361], [2289491, 2289637], [2290463, 2290780]] [[2282626, 2282683], [2284197, 2284361], [2289491, 2289637], [2290463, 2290636]]
NM_198953 [[2282539, 2282610], [2284197, 2284361], [2289491, 2289637], [2290463, 2290780]] [[2284209, 2284361], [2289491, 2289637], [2290463, 2290636]]
NM_198954 [[2282539, 2282683], [2284197, 2284361], [2289491, 2289637], [2290463, 2290780]] [[2282626, 2282683], [2284197, 2284361], [2289491, 2289637], [2290463, 2290636]]
Promoter
Chrom Start End Description
chr7 2281843 2281869 CAGE_peak_1_at_NUDT1_5end
chr7 2281882 2281901 CAGE_peak_2_at_NUDT1_5end
chr7 2284179 2284201 CAGE_peak_3_at_NUDT1_5end
chr7 2288927 2288952 CAGE_peak_4_at_NUDT1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I003193 3193435 3195916 0.97 [{'connected_gene': 'CARD11', 'score': 19.63}, {'connected_gene': 'BRAT1', 'score': 15.11}, {'connected_gene': 'CHST12', 'score': 11.91}, {'connected_gene': 'EIF3B', 'score': 11.64}, {'connected_gene': 'LOC105375132', 'score': 10.55}, {'connected_gene': 'SDK1', 'score': 10.55}, {'connected_gene': 'LOC100129603', 'score': 5.47}, {'connected_gene': 'NUDT1', 'score': 4.46}, {'connected_gene': 'ENSG00000231892', 'score': 0.77}, {'connected_gene': 'GC07P003179', 'score': 0.39}]
chr7 GH07I002023 2023932 2024813 0.79 [{'connected_gene': 'PSMG3', 'score': 5.89}, {'connected_gene': 'NUDT1', 'score': 5.19}, {'connected_gene': 'GC07M001999', 'score': 0.34}, {'connected_gene': 'GC07M002088', 'score': 0.2}, {'connected_gene': 'MAD1L1', 'score': 0.08}]
chr7 GH07I002232 2231702 2235126 2.02 [{'connected_gene': 'MAD1L1', 'score': 550.77}, {'connected_gene': 'NUDT1', 'score': 16.9}, {'connected_gene': 'MRM2', 'score': 14.0}]
chr7 GH07I002362 2362453 2363490 0.31 [{'connected_gene': 'CHST12', 'score': 12.78}, {'connected_gene': 'EIF3B', 'score': 12.47}, {'connected_gene': 'MAD1L1', 'score': 11.27}, {'connected_gene': 'MRM2', 'score': 11.27}, {'connected_gene': 'NUDT1', 'score': 11.27}, {'connected_gene': 'BRAT1', 'score': 10.43}, {'connected_gene': 'GC07P002359', 'score': 0.77}, {'connected_gene': 'PIR35679', 'score': 0.39}, {'connected_gene': 'GC07M002361', 'score': 0.39}]
chr7 GH07I002037 2037265 2038600 1.13 [{'connected_gene': 'NUDT1', 'score': 15.92}, {'connected_gene': 'MAD1L1', 'score': 10.87}, {'connected_gene': 'MRM2', 'score': 10.87}, {'connected_gene': 'LFNG', 'score': 1.6}, {'connected_gene': 'GC07M001999', 'score': 0.28}, {'connected_gene': 'GC07M002088', 'score': 0.23}]
chr7 GH07I002063 2063066 2064681 0.84 [{'connected_gene': 'NUDT1', 'score': 5.48}, {'connected_gene': 'MAD1L1', 'score': 5.28}, {'connected_gene': 'MRM2', 'score': 5.18}, {'connected_gene': 'ELFN1', 'score': 4.68}, {'connected_gene': 'GC07M002088', 'score': 0.31}, {'connected_gene': 'GC07M001999', 'score': 0.21}]
chr7 GH07I002195 2195673 2196764 0.43 [{'connected_gene': 'NUDT1', 'score': 22.37}, {'connected_gene': 'MAD1L1', 'score': 12.5}, {'connected_gene': 'MRM2', 'score': 12.47}, {'connected_gene': 'GC07P002200', 'score': 0.77}, {'connected_gene': 'GC07P002190', 'score': 0.44}, {'connected_gene': 'LOC105375126', 'score': 0.39}]
chr7 GH07I002081 2081686 2083550 0.46 [{'connected_gene': 'NUDT1', 'score': 5.36}, {'connected_gene': 'GC07M002088', 'score': 0.44}, {'connected_gene': 'GC07M001999', 'score': 0.18}, {'connected_gene': 'MAD1L1', 'score': 0.1}]
chr7 GH07I001924 1924401 1924600 0.46 [{'connected_gene': 'NUDT1', 'score': 8.91}, {'connected_gene': 'GC07P001949', 'score': 0.34}, {'connected_gene': 'GC07M001848', 'score': 0.31}, {'connected_gene': 'MAD1L1', 'score': 0.06}]
chr7 GH07I002071 2071993 2072644 0.73 [{'connected_gene': 'NUDT1', 'score': 5.49}, {'connected_gene': 'GC07M002088', 'score': 0.34}, {'connected_gene': 'GC07M001999', 'score': 0.19}, {'connected_gene': 'MAD1L1', 'score': 0.1}]
chr7 GH07I002076 2076630 2076945 0.46 [{'connected_gene': 'NUDT1', 'score': 5.53}, {'connected_gene': 'LFNG', 'score': 5.16}, {'connected_gene': 'GC07M002088', 'score': 0.37}, {'connected_gene': 'GC07M001999', 'score': 0.18}, {'connected_gene': 'MAD1L1', 'score': 0.1}]
chr7 GH07I002115 2115556 2117595 1.25 [{'connected_gene': 'NUDT1', 'score': 10.78}, {'connected_gene': 'LFNG', 'score': 8.7}, {'connected_gene': 'MRM2', 'score': 6.88}, {'connected_gene': 'EIF3B', 'score': 4.75}, {'connected_gene': 'SNX8', 'score': 3.49}, {'connected_gene': 'LOC105375127', 'score': 0.77}, {'connected_gene': 'GC07P002128', 'score': 0.39}, {'connected_gene': 'MAD1L1', 'score': 0.13}]
chr7 GH07I002137 2137946 2139198 1.09 [{'connected_gene': 'NUDT1', 'score': 13.77}, {'connected_gene': 'MRM2', 'score': 7.76}, {'connected_gene': 'MAD1L1', 'score': 6.88}, {'connected_gene': 'GC07P002128', 'score': 0.44}, {'connected_gene': 'GC07P002150', 'score': 0.39}]
chr7 GH07I002083 2083966 2084826 0.31 [{'connected_gene': 'NUDT1', 'score': 5.36}, {'connected_gene': 'MRM2', 'score': 4.96}, {'connected_gene': 'GC07M002088', 'score': 0.44}, {'connected_gene': 'GC07M001999', 'score': 0.18}, {'connected_gene': 'MAD1L1', 'score': 0.11}]
chr7 GH07I002236 2236423 2238754 1.28 [{'connected_gene': 'NUDT1', 'score': 17.19}, {'connected_gene': 'MRM2', 'score': 15.14}, {'connected_gene': 'LFNG', 'score': 5.88}, {'connected_gene': 'SNX8', 'score': 4.48}, {'connected_gene': 'MAD1L1', 'score': 0.77}]
chr7 GH07I002169 2169989 2171597 0.89 [{'connected_gene': 'NUDT1', 'score': 10.13}, {'connected_gene': 'LOC105375126', 'score': 0.39}, {'connected_gene': 'GC07M002150', 'score': 0.37}, {'connected_gene': 'MAD1L1', 'score': 0.21}]
chr7 GH07I002497 2497148 2500889 0.43 [{'connected_gene': 'LFNG', 'score': 7.59}, {'connected_gene': 'NUDT1', 'score': 7.21}, {'connected_gene': 'GRIFIN', 'score': 0.34}]
chr7 GH07I002018 2018002 2021159 1.42 [{'connected_gene': 'MRM2', 'score': 10.43}, {'connected_gene': 'PSMG3', 'score': 6.14}, {'connected_gene': 'NUDT1', 'score': 5.14}, {'connected_gene': 'SNX8', 'score': 3.42}, {'connected_gene': 'MAFK', 'score': 3.34}, {'connected_gene': 'GC07M001999', 'score': 0.37}, {'connected_gene': 'GC07M002088', 'score': 0.19}, {'connected_gene': 'MAD1L1', 'score': 0.08}]
chr7 GH07I002120 2120001 2120941 0.51 [{'connected_gene': 'MRM2', 'score': 10.09}, {'connected_gene': 'MAD1L1', 'score': 6.48}, {'connected_gene': 'NUDT1', 'score': 5.41}, {'connected_gene': 'LOC105375127', 'score': 0.44}, {'connected_gene': 'GC07P002128', 'score': 0.44}]
chr7 GH07I002203 2203705 2204976 0.38 [{'connected_gene': 'MRM2', 'score': 21.38}, {'connected_gene': 'MAD1L1', 'score': 12.72}, {'connected_gene': 'NUDT1', 'score': 12.69}, {'connected_gene': 'GC07P002200', 'score': 0.77}, {'connected_gene': 'LOC105375126', 'score': 0.34}]
chr7 GH07I002103 2103221 2113200 1.76 [{'connected_gene': 'MRM2', 'score': 10.08}, {'connected_gene': 'NUDT1', 'score': 8.06}, {'connected_gene': 'MAD1L1', 'score': 6.47}, {'connected_gene': 'LFNG', 'score': 3.23}, {'connected_gene': 'SNX8', 'score': 1.37}, {'connected_gene': 'LOC105375127', 'score': 0.44}, {'connected_gene': 'GC07P002097', 'score': 0.39}]
chr7 GH07I002317 2317030 2317298 0.39 [{'connected_gene': 'MRM2', 'score': 12.09}, {'connected_gene': 'NUDT1', 'score': 12.09}, {'connected_gene': 'MAD1L1', 'score': 12.07}, {'connected_gene': 'GC07P002305', 'score': 0.39}, {'connected_gene': 'GC07M002345', 'score': 0.29}, {'connected_gene': 'SNX8', 'score': 0.28}]
chr7 GH07I001990 1990100 1990789 0.2 [{'connected_gene': 'MRM2', 'score': 9.41}, {'connected_gene': 'NUDT1', 'score': 5.86}, {'connected_gene': 'MAD1L1', 'score': 5.68}, {'connected_gene': 'GC07M001985', 'score': 0.77}, {'connected_gene': 'GC07M001999', 'score': 0.44}]
chr7 GH07I002241 2241219 2243532 2.03 [{'connected_gene': 'MRM2', 'score': 562.76}, {'connected_gene': 'PIR43450', 'score': 550.77}, {'connected_gene': 'NUDT1', 'score': 550.77}, {'connected_gene': 'BRAT1', 'score': 11.82}, {'connected_gene': 'EIF3B', 'score': 10.7}, {'connected_gene': 'SNX8', 'score': 5.59}]
chr7 GH07I002246 2246174 2247175 0.74 [{'connected_gene': 'MRM2', 'score': 9.27}, {'connected_gene': 'PIR43450', 'score': 0.77}, {'connected_gene': 'PIR41829', 'score': 0.77}, {'connected_gene': 'NUDT1', 'score': 0.77}]
chr7 GH07I002298 2298335 2302102 1.33 [{'connected_gene': 'MRM2', 'score': 20.7}, {'connected_gene': 'SNX8', 'score': 13.84}, {'connected_gene': 'NUDT1', 'score': 12.46}, {'connected_gene': 'MAD1L1', 'score': 12.45}, {'connected_gene': 'LFNG', 'score': 4.9}, {'connected_gene': 'GC07P002305', 'score': 0.44}, {'connected_gene': 'IMMP1LP3', 'score': 0.39}]
chr7 GH07I002325 2325155 2325600 0.76 [{'connected_gene': 'SNX8', 'score': 17.29}, {'connected_gene': 'EIF3B', 'score': 12.67}, {'connected_gene': 'MRM2', 'score': 12.19}, {'connected_gene': 'NUDT1', 'score': 12.19}, {'connected_gene': 'MAD1L1', 'score': 12.18}, {'connected_gene': 'LOC645357', 'score': 11.8}, {'connected_gene': 'CHST12', 'score': 11.76}, {'connected_gene': 'LFNG', 'score': 1.47}, {'connected_gene': 'GC07P002305', 'score': 0.37}, {'connected_gene': 'GC07M002345', 'score': 0.34}]
chr7 GH07I002309 2309426 2315131 2.32 [{'connected_gene': 'SNX8', 'score': 571.98}, {'connected_gene': 'MRM2', 'score': 12.35}, {'connected_gene': 'NUDT1', 'score': 12.35}, {'connected_gene': 'MAD1L1', 'score': 12.34}, {'connected_gene': 'CHST12', 'score': 10.61}, {'connected_gene': 'BRAT1', 'score': 10.16}, {'connected_gene': 'GC07P002305', 'score': 0.44}, {'connected_gene': 'GC07M002345', 'score': 0.28}]
chr7 GH07I002323 2323327 2323628 0.33 [{'connected_gene': 'SNX8', 'score': 14.29}, {'connected_gene': 'MRM2', 'score': 12.19}, {'connected_gene': 'NUDT1', 'score': 12.19}, {'connected_gene': 'MAD1L1', 'score': 12.18}, {'connected_gene': 'AMZ1', 'score': 1.62}, {'connected_gene': 'GC07P002305', 'score': 0.37}, {'connected_gene': 'GC07M002345', 'score': 0.34}]
chr7 GH07I002306 2306646 2308744 0.99 [{'connected_gene': 'SNX8', 'score': 14.63}, {'connected_gene': 'MRM2', 'score': 12.43}, {'connected_gene': 'NUDT1', 'score': 12.43}, {'connected_gene': 'MAD1L1', 'score': 12.42}, {'connected_gene': 'GC07P002305', 'score': 0.77}, {'connected_gene': 'GC07M002345', 'score': 0.26}]
chr7 GH07I002818 2818164 2826928 1.64 [{'connected_gene': 'GNA12', 'score': 28.37}, {'connected_gene': 'BRAT1', 'score': 16.54}, {'connected_gene': 'LOC101927256', 'score': 10.45}, {'connected_gene': 'LFNG', 'score': 7.25}, {'connected_gene': 'NUDT1', 'score': 5.1}, {'connected_gene': 'PIR32151', 'score': 0.77}, {'connected_gene': 'LOC100131264', 'score': 0.39}]
chr7 GH07I001562 1562085 1563309 0.52 [{'connected_gene': 'TMEM184A', 'score': 550.77}, {'connected_gene': 'PSMG3-AS1', 'score': 10.23}, {'connected_gene': 'PSMG3', 'score': 8.39}, {'connected_gene': 'NUDT1', 'score': 5.32}, {'connected_gene': 'GC07P001567', 'score': 0.77}]
chr7 GH07I002678 2678230 2679957 0.99 [{'connected_gene': 'AMZ1', 'score': 550.77}, {'connected_gene': 'NUDT1', 'score': 5.58}, {'connected_gene': 'TTYH3', 'score': 0.25}]
chr7 GH07I001814 1814441 1819800 0.99 [{'connected_gene': 'LOC105375128', 'score': 550.77}, {'connected_gene': 'NUDT1', 'score': 5.38}, {'connected_gene': 'ELFN1', 'score': 5.37}, {'connected_gene': 'PIR40429', 'score': 0.39}, {'connected_gene': 'MAD1L1', 'score': 0.05}]
chr7 GH07I002182 2182304 2182676 0.63 [{'connected_gene': 'LOC105375126', 'score': 550.77}, {'connected_gene': 'NUDT1', 'score': 8.81}, {'connected_gene': 'IQCE', 'score': 1.63}, {'connected_gene': 'GC07M002150', 'score': 0.31}, {'connected_gene': 'MAD1L1', 'score': 0.23}]
chr7 GH07I001741 1741241 1745587 1.16 [{'connected_gene': 'ELFN1-AS1', 'score': 555.09}, {'connected_gene': 'BRAT1', 'score': 11.76}, {'connected_gene': 'NUDT1', 'score': 5.47}, {'connected_gene': 'GC07P001739', 'score': 0.77}, {'connected_gene': 'PIR40429', 'score': 0.21}, {'connected_gene': 'ELFN1', 'score': 0.18}]
chr7 GH07I001841 1841809 1845267 0.79 [{'connected_gene': 'MIR4655', 'score': 550.77}, {'connected_gene': 'EIF3B', 'score': 11.95}, {'connected_gene': 'CHST12', 'score': 10.95}, {'connected_gene': 'BRAT1', 'score': 10.31}, {'connected_gene': 'LOC100127955', 'score': 7.14}, {'connected_gene': 'NUDT1', 'score': 5.01}, {'connected_gene': 'MRM2', 'score': 4.84}, {'connected_gene': 'TMEM184A', 'score': 4.6}, {'connected_gene': 'IQCE', 'score': 4.37}, {'connected_gene': 'GC07M001835', 'score': 0.77}, {'connected_gene': 'MAD1L1', 'score': 0.05}]
chr7 GH07I001881 1881815 1884085 1.09 [{'connected_gene': 'LOC100127955', 'score': 11.84}, {'connected_gene': 'MRM2', 'score': 9.75}, {'connected_gene': 'NUDT1', 'score': 5.82}, {'connected_gene': 'MAD1L1', 'score': 5.27}, {'connected_gene': 'EIF3B', 'score': 5.15}, {'connected_gene': 'GC07M001848', 'score': 0.37}, {'connected_gene': 'MIR4655', 'score': 0.28}]
chr7 GH07I002093 2093083 2094142 0.56 [{'connected_gene': 'GC07M002088', 'score': 550.77}, {'connected_gene': 'MAD1L1', 'score': 18.18}, {'connected_gene': 'NUDT1', 'score': 17.11}, {'connected_gene': 'MRM2', 'score': 11.85}, {'connected_gene': 'GC07P002097', 'score': 0.77}]
chr7 GH07I002201 2201746 2201895 0.43 [{'connected_gene': 'GC07P002200', 'score': 550.77}, {'connected_gene': 'MAD1L1', 'score': 12.7}, {'connected_gene': 'MRM2', 'score': 12.67}, {'connected_gene': 'NUDT1', 'score': 12.67}, {'connected_gene': 'LOC105375126', 'score': 0.37}]
chr7 GH07I002244 2244507 2244566 0.5 [{'connected_gene': 'PIR43450', 'score': 550.77}, {'connected_gene': 'NUDT1', 'score': 550.77}, {'connected_gene': 'PIR41829', 'score': 0.44}]
chr7 GH07I002248 2247226 2247435 0.62 [{'connected_gene': 'PIR43450', 'score': 0.77}, {'connected_gene': 'PIR41829', 'score': 0.77}, {'connected_gene': 'NUDT1', 'score': 0.44}]
chr7 GH07I002304 2304459 2305398 1.1 [{'connected_gene': 'GC07P002305', 'score': 550.77}, {'connected_gene': 'MRM2', 'score': 19.43}, {'connected_gene': 'NUDT1', 'score': 12.45}, {'connected_gene': 'MAD1L1', 'score': 12.44}, {'connected_gene': 'IMMP1LP3', 'score': 0.37}, {'connected_gene': 'SNX8', 'score': 0.25}]
chr7 GH07I002098 2098350 2100975 1.24 [{'connected_gene': 'GC07P002097', 'score': 550.77}, {'connected_gene': 'MRM2', 'score': 7.72}, {'connected_gene': 'NUDT1', 'score': 5.37}, {'connected_gene': 'IQCE', 'score': 1.8}, {'connected_gene': 'LOC105375127', 'score': 0.39}, {'connected_gene': 'MAD1L1', 'score': 0.12}]
chr7 GH07I001898 1898393 1900256 0.31 [{'connected_gene': 'GC07M001848', 'score': 550.77}, {'connected_gene': 'MRM2', 'score': 9.41}, {'connected_gene': 'NUDT1', 'score': 8.91}, {'connected_gene': 'TMEM184A', 'score': 6.11}, {'connected_gene': 'GC07P001949', 'score': 0.25}, {'connected_gene': 'MAD1L1', 'score': 0.06}]
chr7 GH07I002247 2247496 2250457 0.94 [{'connected_gene': 'PIR41829', 'score': 550.77}, {'connected_gene': 'MRM2', 'score': 8.9}, {'connected_gene': 'SNX8', 'score': 7.6}, {'connected_gene': 'PIR43450', 'score': 0.44}, {'connected_gene': 'NUDT1', 'score': 0.44}]

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