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
ENST00000366911 [[161551010, 161557666], [161560453, 161560652], [161567555, 161567631], [161570218, 161570321], [161574377, 161574531], [161575180, 161575342], [161653067, 161653334], [161694969, 161695057]] [[161574514, 161574531], [161575180, 161575342], [161653067, 161653245]]
ENST00000320285 [[161551056, 161557666], [161560453, 161560652], [161567555, 161567631], [161570218, 161570321], [161574377, 161574531], [161575180, 161575342], [161587279, 161587449], [161653067, 161653334], [161694969, 161695093]] [[161557571, 161557666], [161560453, 161560652], [161567555, 161567631], [161570218, 161570321], [161574377, 161574531], [161575180, 161575342], [161587279, 161587449], [161653067, 161653245]]
ENST00000457520 [[161557286, 161557666], [161560453, 161560652], [161567555, 161567631], [161570218, 161570321], [161653067, 161653334], [161694969, 161695077]] [[161557571, 161557666], [161560453, 161560652], [161567555, 161567631], [161570218, 161570321], [161653067, 161653245]]
ENST00000366908 [[161567554, 161567631], [161570218, 161570321], [161574377, 161575342], [161586608, 161586745], [161587279, 161587449], [161653067, 161653334], [161694969, 161695051]] [[161586691, 161586745], [161587279, 161587449], [161653067, 161653245]]
ENST00000436279 [[161570236, 161570287], [161574377, 161574531], [161575180, 161575342], [161586608, 161586745], [161587279, 161587449], [161653067, 161653268]] [[161586691, 161586745], [161587279, 161587449], [161653067, 161653245]]
ENST00000366906 [[161574692, 161575342], [161587279, 161587449], [161694969, 161695082]] [[161575129, 161575342], [161587279, 161587441]]
ENST00000366905 [[161586869, 161587449], [161653067, 161653334], [161694969, 161695064]] [[161587147, 161587449], [161653067, 161653245]]
ENST00000437165 [[161564987, 161565298], [161567555, 161567631], [161570218, 161570321]] [[161565160, 161565298], [161567555, 161567631], [161570218, 161570321]]
NM_020133 [[161551056, 161557666], [161560453, 161560652], [161567555, 161567631], [161570218, 161570321], [161574377, 161574531], [161575180, 161575342], [161587279, 161587449], [161653067, 161653334], [161694969, 161695107]] [[161557571, 161557666], [161560453, 161560652], [161567555, 161567631], [161570218, 161570321], [161574377, 161574531], [161575180, 161575342], [161587279, 161587449], [161653067, 161653245]]
Promoter
Chrom Start End Description
chr6 161695019 161695036 CAGE_peak_3_at_AGPAT4_5end
chr6 161695042 161695064 CAGE_peak_2_at_AGPAT4_5end
chr6 161695074 161695112 CAGE_peak_1_at_AGPAT4_5end
chr6 161695118 161695131 CAGE_peak_4_at_AGPAT4_5end
chr6 161695185 161695199 CAGE_peak_5_at_AGPAT4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I161163 161163629 161163778 0.63 [{'connected_gene': 'AGPAT4-IT1', 'score': 550.77}, {'connected_gene': 'PIR49622', 'score': 0.77}, {'connected_gene': 'AGPAT4', 'score': 0.14}]
chr6 GH06I161160 161160174 161161094 0.51 [{'connected_gene': 'AGPAT4-IT1', 'score': 550.77}, {'connected_gene': 'PIR56804', 'score': 0.34}, {'connected_gene': 'AGPAT4', 'score': 0.14}]
chr6 GH06I161151 161151380 161154139 0.69 [{'connected_gene': 'AGPAT4', 'score': 19.48}, {'connected_gene': 'AGPAT4-IT1', 'score': 0.44}, {'connected_gene': 'PIR56804', 'score': 0.39}]
chr6 GH06I161242 161242065 161244085 1.33 [{'connected_gene': 'AGPAT4', 'score': 13.12}, {'connected_gene': 'MAP3K4', 'score': 1.34}, {'connected_gene': 'GC06P161252', 'score': 0.44}, {'connected_gene': 'PIR49622', 'score': 0.18}]
chr6 GH06I161225 161225354 161230058 1.6 [{'connected_gene': 'AGPAT4', 'score': 28.55}, {'connected_gene': 'MAP3K4', 'score': 1.53}, {'connected_gene': 'GC06P161252', 'score': 0.31}, {'connected_gene': 'PIR49622', 'score': 0.21}]
chr6 GH06I161115 161115612 161115686 0.59 [{'connected_gene': 'AGPAT4', 'score': 8.17}, {'connected_gene': 'PIR62103', 'score': 0.37}, {'connected_gene': 'GC06P161073', 'score': 0.26}, {'connected_gene': 'MAP3K4', 'score': 0.13}]
chr6 GH06I161292 161292462 161293155 0.38 [{'connected_gene': 'AGPAT4', 'score': 0.37}, {'connected_gene': 'LOC105378094', 'score': 0.26}]
chr6 GH06I161360 161360706 161360830 0.54 [{'connected_gene': 'AGPAT4', 'score': 1.31}, {'connected_gene': 'LOC105378094', 'score': 0.34}, {'connected_gene': 'GC06P161404', 'score': 0.26}]
chr6 GH06I161375 161375001 161376200 1.2 [{'connected_gene': 'AGPAT4', 'score': 4.41}, {'connected_gene': 'GC06P161404', 'score': 0.31}, {'connected_gene': 'LOC105378094', 'score': 0.28}]
chr6 GH06I161368 161368801 161370308 0.99 [{'connected_gene': 'AGPAT4', 'score': 4.53}, {'connected_gene': 'LOC105378094', 'score': 0.29}, {'connected_gene': 'GC06P161404', 'score': 0.28}]
chr6 GH06I161293 161292249 161292458 0.38 [{'connected_gene': 'AGPAT4', 'score': 0.37}, {'connected_gene': 'LOC105378094', 'score': 0.26}]
chr6 GH06I161359 161359369 161359842 1.08 [{'connected_gene': 'AGPAT4', 'score': 5.18}, {'connected_gene': 'LOC105378094', 'score': 0.34}, {'connected_gene': 'GC06P161404', 'score': 0.25}]
chr6 GH06I161198 161198400 161198968 0.63 [{'connected_gene': 'AGPAT4', 'score': 12.39}, {'connected_gene': 'PIR49622', 'score': 0.29}, {'connected_gene': 'GC06P161252', 'score': 0.23}]
chr6 GH06I161179 161179753 161184960 0.31 [{'connected_gene': 'AGPAT4', 'score': 6.49}, {'connected_gene': 'PIR49622', 'score': 0.37}, {'connected_gene': 'GC06P161252', 'score': 0.19}]
chr6 GH06I161185 161185970 161186785 1.2 [{'connected_gene': 'AGPAT4', 'score': 1.91}, {'connected_gene': 'PIR49622', 'score': 0.34}, {'connected_gene': 'GC06P161252', 'score': 0.2}]
chr6 GH06I161244 161244769 161244878 1.01 [{'connected_gene': 'AGPAT4', 'score': 11.14}, {'connected_gene': 'GC06P161252', 'score': 0.44}, {'connected_gene': 'PIR49622', 'score': 0.18}]
chr6 GH06I161188 161188602 161190445 0.46 [{'connected_gene': 'AGPAT4', 'score': 8.5}, {'connected_gene': 'PIR49622', 'score': 0.34}, {'connected_gene': 'GC06P161252', 'score': 0.21}]
chr6 GH06I161214 161214334 161216979 1.23 [{'connected_gene': 'AGPAT4', 'score': 21.12}, {'connected_gene': 'GC06P161252', 'score': 0.28}, {'connected_gene': 'PIR49622', 'score': 0.25}]
chr6 GH06I161206 161206771 161207921 0.54 [{'connected_gene': 'AGPAT4', 'score': 20.52}, {'connected_gene': 'PIR49622', 'score': 0.26}, {'connected_gene': 'GC06P161252', 'score': 0.25}]
chr6 GH06I161128 161128521 161128998 0.69 [{'connected_gene': 'AGPAT4', 'score': 10.45}, {'connected_gene': 'PIR62103', 'score': 0.77}, {'connected_gene': 'GC06P161073', 'score': 0.22}]
chr6 GH06I161238 161238512 161238842 0.82 [{'connected_gene': 'AGPAT4', 'score': 2.64}, {'connected_gene': 'GC06P161252', 'score': 0.39}, {'connected_gene': 'PIR49622', 'score': 0.19}]
chr6 GH06I161217 161217805 161218308 0.46 [{'connected_gene': 'AGPAT4', 'score': 11.76}, {'connected_gene': 'GC06P161252', 'score': 0.29}, {'connected_gene': 'PIR49622', 'score': 0.23}]
chr6 GH06I161233 161233924 161235019 0.89 [{'connected_gene': 'AGPAT4', 'score': 12.15}, {'connected_gene': 'GC06P161252', 'score': 0.37}, {'connected_gene': 'PIR49622', 'score': 0.2}]
chr6 GH06I161124 161124819 161125079 0.44 [{'connected_gene': 'AGPAT4', 'score': 2.17}, {'connected_gene': 'PIR62103', 'score': 0.44}, {'connected_gene': 'GC06P161073', 'score': 0.23}]
chr6 GH06I161222 161222511 161223544 0.38 [{'connected_gene': 'AGPAT4', 'score': 11.77}, {'connected_gene': 'GC06P161252', 'score': 0.31}, {'connected_gene': 'PIR49622', 'score': 0.22}]
chr6 GH06I161199 161199634 161201602 0.43 [{'connected_gene': 'AGPAT4', 'score': 9.96}, {'connected_gene': 'PIR49622', 'score': 0.29}, {'connected_gene': 'GC06P161252', 'score': 0.23}]
chr6 GH06I161167 161167774 161170722 1.59 [{'connected_gene': 'AGPAT4', 'score': 6.69}, {'connected_gene': 'PIR49622', 'score': 0.77}, {'connected_gene': 'GC06P161252', 'score': 0.18}]
chr6 GH06I161208 161208538 161209863 0.38 [{'connected_gene': 'AGPAT4', 'score': 9.58}, {'connected_gene': 'GC06P161252', 'score': 0.26}, {'connected_gene': 'PIR49622', 'score': 0.26}]
chr6 GH06I161195 161195181 161196544 0.43 [{'connected_gene': 'AGPAT4', 'score': 10.89}, {'connected_gene': 'PIR49622', 'score': 0.31}, {'connected_gene': 'GC06P161252', 'score': 0.22}]
chr6 GH06I161268 161268503 161268943 0.8 [{'connected_gene': 'AGPAT4', 'score': 0.44}, {'connected_gene': 'GC06P161252', 'score': 0.37}]
chr6 GH06I161270 161270929 161272450 0.62 [{'connected_gene': 'AGPAT4', 'score': 0.77}, {'connected_gene': 'GC06P161252', 'score': 0.37}]
chr6 GH06I161265 161265389 161267710 0.59 [{'connected_gene': 'AGPAT4', 'score': 0.44}, {'connected_gene': 'GC06P161252', 'score': 0.39}]
chr6 GH06I161272 161272516 161274848 2.21 [{'connected_gene': 'AGPAT4', 'score': 555.13}, {'connected_gene': 'GC06P161252', 'score': 0.34}]
chr6 GH06I161263 161263744 161265175 0.43 [{'connected_gene': 'AGPAT4', 'score': 0.44}, {'connected_gene': 'GC06P161252', 'score': 0.39}]
chr6 GH06I161443 161443735 161445458 0.97 [{'connected_gene': 'MAP3K4', 'score': 5.7}, {'connected_gene': 'AGPAT4', 'score': 1.82}, {'connected_gene': 'LOC105378098', 'score': 0.31}, {'connected_gene': 'GC06P161404', 'score': 0.28}]
chr6 GH06I161226 161225009 161225158 0.8 [{'connected_gene': 'MAP3K4', 'score': 33.03}, {'connected_gene': 'AGPAT4', 'score': 21.29}, {'connected_gene': 'GC06P161252', 'score': 0.31}, {'connected_gene': 'PIR49622', 'score': 0.22}]
chr6 GH06I161204 161204565 161205697 1.16 [{'connected_gene': 'MAP3K4', 'score': 10.22}, {'connected_gene': 'AGPAT4', 'score': 9.88}, {'connected_gene': 'PIR49622', 'score': 0.28}, {'connected_gene': 'GC06P161252', 'score': 0.25}]
chr6 GH06I161315 161315369 161315491 0.86 [{'connected_gene': 'MAP3K4', 'score': 23.05}, {'connected_gene': 'LOC105378094', 'score': 0.34}, {'connected_gene': 'AGPAT4', 'score': 0.26}]
chr6 GH06I161313 161313629 161313778 0.43 [{'connected_gene': 'LOC105378094', 'score': 0.34}, {'connected_gene': 'AGPAT4', 'score': 0.28}]
chr6 GH06I161373 161373969 161374158 0.88 [{'connected_gene': 'ENSG00000272841', 'score': 12.24}, {'connected_gene': 'AGPAT4', 'score': 11.54}, {'connected_gene': 'GC06P161404', 'score': 0.29}, {'connected_gene': 'LOC105378094', 'score': 0.28}]
chr6 GH06I161136 161136061 161136999 0.89 [{'connected_gene': 'PIR57040', 'score': 550.77}, {'connected_gene': 'PIR37580', 'score': 550.77}, {'connected_gene': 'GC06M161137', 'score': 550.77}, {'connected_gene': 'PIR56804', 'score': 0.77}, {'connected_gene': 'AGPAT4', 'score': 0.12}]
chr6 GH06I161257 161257205 161258870 1.08 [{'connected_gene': 'GC06P161252', 'score': 0.44}, {'connected_gene': 'AGPAT4', 'score': 0.37}]
chr6 GH06I161260 161260796 161263258 0.74 [{'connected_gene': 'GC06P161252', 'score': 0.44}, {'connected_gene': 'AGPAT4', 'score': 0.39}]
chr6 GH06I161254 161254228 161256031 1.18 [{'connected_gene': 'GC06P161252', 'score': 0.77}, {'connected_gene': 'AGPAT4', 'score': 0.37}]
chr6 GH06I161235 161235676 161236766 0.67 [{'connected_gene': 'GC06P161252', 'score': 0.37}, {'connected_gene': 'AGPAT4', 'score': 0.28}, {'connected_gene': 'PIR49622', 'score': 0.2}]