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
ENST00000452400 [[71021996, 71025878], [71033536, 71033626], [71036118, 71036317], [71036922, 71037100], [71039047, 71039282], [71040667, 71040745], [71040936, 71041215], [71044071, 71044237], [71050437, 71050567], [71053418, 71053634], [71056876, 71057083], [71060507, 71060718], [71068205, 71069475], [71071739, 71071887], [71074945, 71075089], [71075699, 71075801], [71078800, 71078989], [71082436, 71082614], [71086990, 71087094], [71126137, 71126310], [71128894, 71128999], [71208978, 71209035], [71315934, 71316040]] [[71025866, 71025878], [71033536, 71033626], [71036118, 71036317], [71036922, 71037100], [71039047, 71039282], [71040667, 71040745], [71040936, 71041215], [71044071, 71044237], [71050437, 71050567], [71053418, 71053634], [71056876, 71057083], [71060507, 71060718], [71068205, 71069475], [71071739, 71071887], [71074945, 71075089], [71075699, 71075801], [71078800, 71078989], [71082436, 71082614], [71086990, 71087094], [71126137, 71126310], [71128894, 71128980]]
ENST00000518287 [[71024304, 71025878], [71036038, 71036317], [71036922, 71037100], [71039047, 71039282], [71040667, 71040745], [71040936, 71041215], [71044071, 71044237], [71050437, 71050567], [71053413, 71053634], [71060507, 71060718], [71068205, 71069475], [71071739, 71071887], [71074945, 71075089], [71075699, 71075801], [71078800, 71078989], [71082436, 71082614], [71086990, 71087094], [71126137, 71126310], [71128894, 71128999], [71208978, 71209035], [71314048, 71314314]] [[71050552, 71050567], [71053413, 71053634], [71060507, 71060718], [71068205, 71069475], [71071739, 71071887], [71074945, 71075089], [71075699, 71075801], [71078800, 71078989], [71082436, 71082614], [71086990, 71087094], [71126137, 71126310], [71128894, 71128980]]
ENST00000520416 [[71128955, 71128999], [71208978, 71209035], [71314397, 71314822]] [[71128955, 71128980]]
ENST00000267974 [[71025803, 71025878], [71033536, 71033626], [71036118, 71036317], [71036922, 71037100], [71039047, 71039282], [71040667, 71040745], [71040936, 71041215], [71044071, 71044237], [71050437, 71050567], [71053418, 71053634], [71060507, 71060621]] [[71025866, 71025878], [71033536, 71033626], [71036118, 71036317], [71036922, 71037100], [71039047, 71039282], [71040667, 71040745], [71040936, 71041215], [71044071, 71044237], [71050437, 71050567], [71053418, 71053634], [71060507, 71060583]]
ENST00000518363 [[71025803, 71025878], [71033536, 71033626], [71036118, 71036317], [71036922, 71037100], [71039047, 71039282], [71040667, 71040745], [71040936, 71041215], [71044071, 71044237], [71050437, 71050567], [71053418, 71053634], [71060507, 71060695]] [[71025866, 71025878], [71033536, 71033626], [71036118, 71036317], [71036922, 71037100], [71039047, 71039282], [71040667, 71040745], [71040936, 71041215], [71044071, 71044237], [71050437, 71050567], [71053418, 71053634], [71060507, 71060695]]
ENST00000521239 [[71038843, 71039282], [71040667, 71040745], [71040936, 71040982]] None
ENST00000522054 [[71050207, 71050567], [71053418, 71053477]] None
ENST00000524223 [[71068205, 71068900], [71069359, 71069381]] None
ENST00000519724 [[71128930, 71128999], [71157241, 71157610]] [[71128930, 71128980]]
NM_001321712 [[71021996, 71025878], [71033536, 71033626], [71036118, 71036317], [71036922, 71037100], [71039047, 71039282], [71040667, 71040745], [71040936, 71041215], [71044071, 71044237], [71050437, 71050567], [71053418, 71053634], [71060507, 71060718], [71068205, 71069475], [71071739, 71071887], [71074945, 71075089], [71075699, 71075801], [71078800, 71078989], [71082436, 71082614], [71086990, 71087094], [71126137, 71126310], [71128894, 71128999], [71208978, 71209035], [71315432, 71315490]] [[71025866, 71025878], [71033536, 71033626], [71036118, 71036317], [71036922, 71037100], [71039047, 71039282], [71040667, 71040745], [71040936, 71041215], [71044071, 71044237], [71050437, 71050567], [71053418, 71053634], [71060507, 71060718], [71068205, 71069475], [71071739, 71071887], [71074945, 71075089], [71075699, 71075801], [71078800, 71078989], [71082436, 71082614], [71086990, 71087094], [71126137, 71126310], [71128894, 71128980]]
NM_001321713 [[71021996, 71025878], [71033536, 71033626], [71036118, 71036317], [71036922, 71037100], [71039047, 71039282], [71040667, 71040745], [71040936, 71041215], [71044071, 71044237], [71050437, 71050567], [71053418, 71053634], [71056876, 71057083], [71060507, 71060718], [71068205, 71069475], [71071739, 71071887], [71074945, 71075089], [71075699, 71075801], [71078800, 71078989], [71082436, 71082614], [71126137, 71126310], [71128894, 71128999], [71208978, 71209035], [71315432, 71315490]] [[71025866, 71025878], [71033536, 71033626], [71036118, 71036317], [71036922, 71037100], [71039047, 71039282], [71040667, 71040745], [71040936, 71041215], [71044071, 71044237], [71050437, 71050567], [71053418, 71053634], [71056876, 71057083], [71060507, 71060718], [71068205, 71069475], [71071739, 71071887], [71074945, 71075089], [71075699, 71075801], [71078800, 71078989], [71082436, 71082515]]
NM_001321707 [[71021996, 71025878], [71033536, 71033626], [71036118, 71036317], [71036922, 71037100], [71039047, 71039282], [71040667, 71040745], [71040936, 71041215], [71044071, 71044237], [71050437, 71050567], [71053418, 71053634], [71056876, 71057083], [71060507, 71060718], [71068205, 71069475], [71071739, 71071887], [71074945, 71075089], [71075699, 71075801], [71078800, 71078989], [71082436, 71082614], [71086990, 71087094], [71126137, 71126310], [71128894, 71128999], [71208978, 71209035], [71315568, 71315627]] [[71025866, 71025878], [71033536, 71033626], [71036118, 71036317], [71036922, 71037100], [71039047, 71039282], [71040667, 71040745], [71040936, 71041215], [71044071, 71044237], [71050437, 71050567], [71053418, 71053634], [71056876, 71057083], [71060507, 71060718], [71068205, 71069475], [71071739, 71071887], [71074945, 71075089], [71075699, 71075801], [71078800, 71078989], [71082436, 71082614], [71086990, 71087094], [71126137, 71126310], [71128894, 71128980]]
NM_006540 [[71021996, 71025878], [71033536, 71033626], [71036118, 71036317], [71036922, 71037100], [71039047, 71039282], [71040667, 71040745], [71040936, 71041215], [71044071, 71044237], [71050437, 71050567], [71053418, 71053634], [71056876, 71057083], [71060507, 71060718], [71068205, 71069475], [71071739, 71071887], [71074945, 71075089], [71075699, 71075801], [71078800, 71078989], [71082436, 71082614], [71086990, 71087094], [71126137, 71126310], [71128894, 71128999], [71208978, 71209035], [71315934, 71316075]] [[71025866, 71025878], [71033536, 71033626], [71036118, 71036317], [71036922, 71037100], [71039047, 71039282], [71040667, 71040745], [71040936, 71041215], [71044071, 71044237], [71050437, 71050567], [71053418, 71053634], [71056876, 71057083], [71060507, 71060718], [71068205, 71069475], [71071739, 71071887], [71074945, 71075089], [71075699, 71075801], [71078800, 71078989], [71082436, 71082614], [71086990, 71087094], [71126137, 71126310], [71128894, 71128980]]
NM_001321711 [[71021996, 71025878], [71033536, 71033626], [71036118, 71036317], [71036922, 71037100], [71039047, 71039282], [71040667, 71040745], [71040936, 71041215], [71044071, 71044237], [71050437, 71050567], [71053418, 71053634], [71060507, 71060718], [71068205, 71069475], [71071739, 71071887], [71074945, 71075089], [71075699, 71075801], [71078800, 71078989], [71082436, 71082614], [71086990, 71087094], [71126137, 71126310], [71128894, 71128999], [71208978, 71209035], [71315934, 71316075]] [[71025866, 71025878], [71033536, 71033626], [71036118, 71036317], [71036922, 71037100], [71039047, 71039282], [71040667, 71040745], [71040936, 71041215], [71044071, 71044237], [71050437, 71050567], [71053418, 71053634], [71060507, 71060718], [71068205, 71069475], [71071739, 71071887], [71074945, 71075089], [71075699, 71075801], [71078800, 71078989], [71082436, 71082614], [71086990, 71087094], [71126137, 71126310], [71128894, 71128980]]
NM_001321703 [[71021996, 71025878], [71033536, 71033626], [71036118, 71036317], [71036922, 71037100], [71039047, 71039282], [71040667, 71040745], [71040936, 71041215], [71044071, 71044237], [71050437, 71050567], [71053418, 71053634], [71056876, 71057083], [71060507, 71060718], [71068205, 71069475], [71071739, 71071887], [71074945, 71075089], [71075699, 71075801], [71078800, 71078989], [71082436, 71082614], [71086990, 71087094], [71126137, 71126310], [71128894, 71128999], [71208978, 71209035], [71316260, 71316473]] [[71025866, 71025878], [71033536, 71033626], [71036118, 71036317], [71036922, 71037100], [71039047, 71039282], [71040667, 71040745], [71040936, 71041215], [71044071, 71044237], [71050437, 71050567], [71053418, 71053634], [71056876, 71057083], [71060507, 71060718], [71068205, 71069475], [71071739, 71071887], [71074945, 71075089], [71075699, 71075801], [71078800, 71078989], [71082436, 71082614], [71086990, 71087094], [71126137, 71126310], [71128894, 71128980]]
Promoter
Chrom Start End Description
chr8 71053573 71053617 CAGE_peak_25_at_NCOA2_5end
chr8 71053651 71053662 CAGE_peak_24_at_NCOA2_5end
chr8 71053689 71053698 CAGE_peak_31_at_NCOA2_5end
chr8 71053850 71053871 CAGE_peak_22_at_NCOA2_5end
chr8 71157578 71157592 CAGE_peak_15_at_NCOA2_5end
chr8 71157595 71157616 CAGE_peak_13_at_NCOA2_5end
chr8 71315585 71315605 CAGE_peak_8_at_NCOA2_5end
chr8 71315615 71315638 CAGE_peak_3_at_NCOA2_5end
chr8 71316021 71316068 CAGE_peak_1_at_NCOA2_5end
chr8 71316222 71316259 CAGE_peak_5_at_NCOA2_5end
chr8 71316403 71316427 CAGE_peak_6_at_NCOA2_5end
chr8 71316428 71316459 CAGE_peak_2_at_NCOA2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I069832 69832257 69835627 1.97 [{'connected_gene': 'SLCO5A1', 'score': 550.77}, {'connected_gene': 'LOC101929759', 'score': 550.77}, {'connected_gene': 'LOC100129096', 'score': 11.39}, {'connected_gene': 'NCOA2', 'score': 9.73}, {'connected_gene': 'LOC100101127', 'score': 0.28}, {'connected_gene': 'GC08P069795', 'score': 0.28}]
chr8 GH08I070211 70211870 70212203 0.47 [{'connected_gene': 'BTF3P12', 'score': 0.21}, {'connected_gene': 'H2AFZP2', 'score': 0.14}, {'connected_gene': 'NCOA2', 'score': 0.08}]
chr8 GH08I070222 70222801 70223200 0.2 [{'connected_gene': 'BTF3P12', 'score': 0.23}, {'connected_gene': 'H2AFZP2', 'score': 0.13}, {'connected_gene': 'NCOA2', 'score': 0.09}]
chr8 GH08I070226 70226801 70227400 0.38 [{'connected_gene': 'BTF3P12', 'score': 0.25}, {'connected_gene': 'H2AFZP2', 'score': 0.13}, {'connected_gene': 'NCOA2', 'score': 0.1}]
chr8 GH08I070143 70143089 70144248 0.51 [{'connected_gene': 'LACTB2', 'score': 11.06}, {'connected_gene': 'XKR9', 'score': 11.06}, {'connected_gene': 'H2AFZP2', 'score': 0.28}, {'connected_gene': 'BTF3P12', 'score': 0.13}, {'connected_gene': 'NCOA2', 'score': 0.07}]
chr8 GH08I070140 70140175 70142729 0.69 [{'connected_gene': 'LACTB2', 'score': 11.06}, {'connected_gene': 'XKR9', 'score': 11.06}, {'connected_gene': 'H2AFZP2', 'score': 0.28}, {'connected_gene': 'BTF3P12', 'score': 0.12}, {'connected_gene': 'NCOA2', 'score': 0.07}]
chr8 GH08I070113 70113226 70114038 0.54 [{'connected_gene': 'LACTB2', 'score': 10.58}, {'connected_gene': 'XKR9', 'score': 10.58}, {'connected_gene': 'H2AFZP2', 'score': 0.44}, {'connected_gene': 'BTF3P12', 'score': 0.1}, {'connected_gene': 'NCOA2', 'score': 0.06}]
chr8 GH08I070110 70110222 70110637 0.74 [{'connected_gene': 'LACTB2', 'score': 10.58}, {'connected_gene': 'XKR9', 'score': 10.58}, {'connected_gene': 'H2AFZP2', 'score': 0.44}, {'connected_gene': 'BTF3P12', 'score': 0.1}, {'connected_gene': 'NCOA2', 'score': 0.06}]
chr8 GH08I070147 70147586 70149314 1.33 [{'connected_gene': 'LACTB2', 'score': 11.17}, {'connected_gene': 'XKR9', 'score': 11.17}, {'connected_gene': 'TRAM1', 'score': 10.75}, {'connected_gene': 'LACTB2-AS1', 'score': 10.75}, {'connected_gene': 'H2AFZP2', 'score': 0.26}, {'connected_gene': 'BTF3P12', 'score': 0.13}, {'connected_gene': 'NCOA2', 'score': 0.07}]
chr8 GH08I070126 70126149 70128311 0.46 [{'connected_gene': 'LACTB2', 'score': 10.19}, {'connected_gene': 'XKR9', 'score': 10.19}, {'connected_gene': 'RNU1-101P', 'score': 10.02}, {'connected_gene': 'H2AFZP2', 'score': 0.34}, {'connected_gene': 'BTF3P12', 'score': 0.11}, {'connected_gene': 'NCOA2', 'score': 0.06}]
chr8 GH08I070200 70200220 70203895 0.38 [{'connected_gene': 'XKR9', 'score': 4.39}, {'connected_gene': 'BTF3P12', 'score': 0.19}, {'connected_gene': 'H2AFZP2', 'score': 0.15}, {'connected_gene': 'NCOA2', 'score': 0.08}]
chr8 GH08I070244 70244801 70247312 1.34 [{'connected_gene': 'XKR9', 'score': 4.28}, {'connected_gene': 'BTF3P12', 'score': 0.31}, {'connected_gene': 'H2AFZP2', 'score': 0.11}, {'connected_gene': 'NCOA2', 'score': 0.1}]
chr8 GH08I070212 70212777 70215893 0.98 [{'connected_gene': 'XKR9', 'score': 4.41}, {'connected_gene': 'BTF3P12', 'score': 0.22}, {'connected_gene': 'H2AFZP2', 'score': 0.14}, {'connected_gene': 'NCOA2', 'score': 0.08}]
chr8 GH08I070374 70374401 70376400 0.77 [{'connected_gene': 'XKR9', 'score': 4.06}, {'connected_gene': 'RNY3P14', 'score': 0.37}, {'connected_gene': 'GC08P070403', 'score': 0.31}, {'connected_gene': 'NCOA2', 'score': 0.29}]
chr8 GH08I070328 70328745 70329725 0.2 [{'connected_gene': 'XKR9', 'score': 4.0}, {'connected_gene': 'GC08P070359', 'score': 0.31}, {'connected_gene': 'GC08P070274', 'score': 0.22}, {'connected_gene': 'NCOA2', 'score': 0.18}]
chr8 GH08I070329 70329900 70334315 1.04 [{'connected_gene': 'XKR9', 'score': 4.05}, {'connected_gene': 'GC08P070359', 'score': 0.31}, {'connected_gene': 'GC08P070274', 'score': 0.22}, {'connected_gene': 'NCOA2', 'score': 0.19}]
chr8 GH08I070315 70315206 70317154 0.92 [{'connected_gene': 'XKR9', 'score': 4.42}, {'connected_gene': 'GC08P070274', 'score': 0.26}, {'connected_gene': 'GC08P070359', 'score': 0.26}, {'connected_gene': 'NCOA2', 'score': 0.17}]
chr8 GH08I070151 70151774 70154659 1.29 [{'connected_gene': 'H2AFZP2', 'score': 0.25}, {'connected_gene': 'BTF3P12', 'score': 0.13}, {'connected_gene': 'NCOA2', 'score': 0.07}]
chr8 GH08I070181 70181035 70182610 1.19 [{'connected_gene': 'H2AFZP2', 'score': 0.18}, {'connected_gene': 'BTF3P12', 'score': 0.16}, {'connected_gene': 'NCOA2', 'score': 0.07}]
chr8 GH08I070160 70160078 70161355 1.15 [{'connected_gene': 'H2AFZP2', 'score': 0.22}, {'connected_gene': 'BTF3P12', 'score': 0.14}, {'connected_gene': 'NCOA2', 'score': 0.07}]
chr8 GH08I070130 70130493 70131288 0.97 [{'connected_gene': 'H2AFZP2', 'score': 0.31}, {'connected_gene': 'BTF3P12', 'score': 0.11}, {'connected_gene': 'NCOA2', 'score': 0.06}]
chr8 GH08I070188 70188286 70188435 0.57 [{'connected_gene': 'H2AFZP2', 'score': 0.18}, {'connected_gene': 'BTF3P12', 'score': 0.18}, {'connected_gene': 'NCOA2', 'score': 0.08}]
chr8 GH08I070109 70109754 70110184 0.76 [{'connected_gene': 'RNU1-101P', 'score': 12.02}, {'connected_gene': 'LACTB2', 'score': 10.58}, {'connected_gene': 'XKR9', 'score': 10.58}, {'connected_gene': 'H2AFZP2', 'score': 0.44}, {'connected_gene': 'BTF3P12', 'score': 0.1}, {'connected_gene': 'NCOA2', 'score': 0.06}]
chr8 GH08I070366 70366000 70366201 0.49 [{'connected_gene': 'RNY3P14', 'score': 0.44}, {'connected_gene': 'GC08P070403', 'score': 0.28}, {'connected_gene': 'NCOA2', 'score': 0.28}]
chr8 GH08I070367 70367947 70368567 0.31 [{'connected_gene': 'RNY3P14', 'score': 0.39}, {'connected_gene': 'GC08P070403', 'score': 0.28}, {'connected_gene': 'NCOA2', 'score': 0.28}]
chr8 GH08I070194 70194407 70194699 0.33 [{'connected_gene': 'NCOA2', 'score': 2.16}, {'connected_gene': 'BTF3P12', 'score': 0.18}, {'connected_gene': 'H2AFZP2', 'score': 0.16}]
chr8 GH08I070259 70259001 70259200 0.46 [{'connected_gene': 'NCOA2', 'score': 11.41}, {'connected_gene': 'BTF3P12', 'score': 0.39}, {'connected_gene': 'H2AFZP2', 'score': 0.1}]
chr8 GH08I070216 70216461 70221949 1.35 [{'connected_gene': 'NCOA2', 'score': 1.42}, {'connected_gene': 'BTF3P12', 'score': 0.23}, {'connected_gene': 'H2AFZP2', 'score': 0.14}]
chr8 GH08I070171 70171631 70175148 1.19 [{'connected_gene': 'NCOA2', 'score': 13.68}, {'connected_gene': 'H2AFZP2', 'score': 0.2}, {'connected_gene': 'BTF3P12', 'score': 0.15}]
chr8 GH08I070422 70422094 70422417 0.23 [{'connected_gene': 'LOC101926892', 'score': 4.51}, {'connected_gene': 'GC08M070425', 'score': 0.77}, {'connected_gene': 'NCOA2', 'score': 0.37}]
chr8 GH08I070271 70271357 70272752 0.72 [{'connected_gene': 'GC08P070274', 'score': 550.77}, {'connected_gene': 'BTF3P12', 'score': 550.77}, {'connected_gene': 'NCOA2', 'score': 0.12}, {'connected_gene': 'H2AFZP2', 'score': 0.1}]
chr8 GH08I070273 70273205 70274422 0.79 [{'connected_gene': 'GC08P070274', 'score': 550.77}, {'connected_gene': 'BTF3P12', 'score': 550.77}, {'connected_gene': 'GC08P070359', 'score': 0.18}, {'connected_gene': 'NCOA2', 'score': 0.12}]
chr8 GH08I070400 70400052 70405157 2.27 [{'connected_gene': 'GC08P070403', 'score': 550.77}, {'connected_gene': 'NCOA2', 'score': 550.77}, {'connected_gene': 'XKR9', 'score': 5.23}, {'connected_gene': 'RNY3P14', 'score': 0.25}]
chr8 GH08I070393 70393601 70395599 0.38 [{'connected_gene': 'GC08P070403', 'score': 0.44}, {'connected_gene': 'NCOA2', 'score': 0.39}, {'connected_gene': 'RNY3P14', 'score': 0.28}]
chr8 GH08I070327 70327946 70328115 0.74 [{'connected_gene': 'GC08P070359', 'score': 0.31}, {'connected_gene': 'GC08P070274', 'score': 0.23}, {'connected_gene': 'NCOA2', 'score': 0.18}]
chr8 GH08I070345 70345600 70346800 0.84 [{'connected_gene': 'GC08P070359', 'score': 0.39}, {'connected_gene': 'NCOA2', 'score': 0.22}, {'connected_gene': 'GC08P070274', 'score': 0.19}]

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