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
ENST00000265808 [[20002365, 20003387], [20004768, 20004902], [20005113, 20005233], [20005517, 20005581], [20007186, 20007238], [20008176, 20008255], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038598], [20039259, 20039463], [20040573, 20040626]] [[20003273, 20003387], [20004768, 20004902], [20005113, 20005233], [20005517, 20005581], [20007186, 20007238], [20008176, 20008255], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038475]]
ENST00000276373 [[20002365, 20003387], [20004768, 20004902], [20005113, 20005233], [20005517, 20005581], [20007186, 20007238], [20008176, 20008255], [20022379, 20022475], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038598], [20040573, 20040717]] [[20003273, 20003387], [20004768, 20004902], [20005113, 20005233], [20005517, 20005581], [20007186, 20007238], [20008176, 20008255], [20022379, 20022475], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038475]]
ENST00000440926 [[20002366, 20003387], [20004768, 20004902], [20005113, 20005233], [20005517, 20005581], [20007186, 20007238], [20008176, 20008255], [20022379, 20022475], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038598], [20039259, 20039463], [20040573, 20040717]] [[20003273, 20003387], [20004768, 20004902], [20005113, 20005233], [20005517, 20005581], [20007186, 20007238], [20008176, 20008255], [20022379, 20022475], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038475]]
ENST00000437980 [[20002366, 20003387], [20005113, 20005233], [20005517, 20005581], [20007186, 20007238], [20008176, 20008255], [20022379, 20022475], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038598], [20039259, 20039463], [20040573, 20040717]] [[20003298, 20003387], [20005113, 20005233], [20005517, 20005581], [20007186, 20007238], [20008176, 20008255], [20022379, 20022475], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038475]]
ENST00000517776 [[20002369, 20003387], [20004768, 20004902], [20005113, 20005233], [20005517, 20005581], [20005925, 20006027], [20007186, 20007238], [20008176, 20008255], [20022379, 20022475], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038598], [20040573, 20040636]] [[20006015, 20006027], [20007186, 20007238], [20008176, 20008255], [20022379, 20022475], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038475]]
ENST00000519026 [[20003008, 20003387], [20004768, 20004902], [20005113, 20005233], [20005517, 20005581], [20007186, 20007238], [20008176, 20008255], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038598], [20040573, 20040683]] [[20003273, 20003387], [20004768, 20004902], [20005113, 20005233], [20005517, 20005581], [20007186, 20007238], [20008176, 20008255], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038475]]
ENST00000381608 [[20003298, 20003387], [20005113, 20005233], [20005517, 20005581], [20007186, 20007238], [20008176, 20008255], [20022379, 20022475], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038475]] [[20003298, 20003387], [20005113, 20005233], [20005517, 20005581], [20007186, 20007238], [20008176, 20008255], [20022379, 20022475], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038475]]
ENST00000519171 [[20005113, 20005233], [20005517, 20005581], [20005925, 20006027], [20007186, 20007238], [20008176, 20008507]] None
ENST00000522513 [[20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20035945, 20036004], [20036631, 20036995], [20038351, 20038598], [20040573, 20040628]] [[20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20035945, 20036004], [20036631, 20036995], [20038351, 20038475]]
ENST00000524272 [[20028615, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20032834, 20033433]] None
NM_001135691 [[20002365, 20003387], [20004768, 20004902], [20005113, 20005233], [20005517, 20005581], [20007186, 20007238], [20008176, 20008255], [20022379, 20022475], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038598], [20039259, 20039463], [20040573, 20040717]] [[20003273, 20003387], [20004768, 20004902], [20005113, 20005233], [20005517, 20005581], [20007186, 20007238], [20008176, 20008255], [20022379, 20022475], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038475]]
NM_001142325 [[20002365, 20003387], [20005113, 20005233], [20005517, 20005581], [20007186, 20007238], [20008176, 20008255], [20022379, 20022475], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038598], [20039259, 20039463], [20040573, 20040717]] [[20003298, 20003387], [20005113, 20005233], [20005517, 20005581], [20007186, 20007238], [20008176, 20008255], [20022379, 20022475], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038475]]
NM_001142324 [[20002365, 20003387], [20004768, 20004902], [20005113, 20005233], [20005517, 20005581], [20007186, 20007238], [20008176, 20008255], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038598], [20039259, 20039463], [20040573, 20040717]] [[20003273, 20003387], [20004768, 20004902], [20005113, 20005233], [20005517, 20005581], [20007186, 20007238], [20008176, 20008255], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038475]]
NM_003053 [[20002365, 20003387], [20004768, 20004902], [20005113, 20005233], [20005517, 20005581], [20007186, 20007238], [20008176, 20008255], [20022379, 20022475], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038598], [20040573, 20040717]] [[20003273, 20003387], [20004768, 20004902], [20005113, 20005233], [20005517, 20005581], [20007186, 20007238], [20008176, 20008255], [20022379, 20022475], [20022557, 20022618], [20028613, 20028657], [20028915, 20029005], [20030546, 20030639], [20031871, 20031955], [20035945, 20036004], [20036631, 20036995], [20038351, 20038475]]
Promoter
Chrom Start End Description
chr8 20040601 20040630 CAGE_peak_2_at_SLC18A1_5end
chr8 20040638 20040652 CAGE_peak_1_at_SLC18A1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I019966 19966285 19967003 0.2 [{'connected_gene': 'SLC18A1', 'score': 10.65}, {'connected_gene': 'GC08M019958', 'score': 0.77}, {'connected_gene': 'LPL', 'score': 0.21}, {'connected_gene': 'LOC105379311', 'score': 0.14}]
chr8 GH08I019965 19965098 19965799 0.4 [{'connected_gene': 'SLC18A1', 'score': 10.65}, {'connected_gene': 'LPL', 'score': 4.59}, {'connected_gene': 'GC08M019958', 'score': 0.77}, {'connected_gene': 'LOC105379311', 'score': 0.14}]
chr8 GH08I020133 20133810 20133939 0.57 [{'connected_gene': 'SLC18A1', 'score': 10.9}, {'connected_gene': 'LOC105379311', 'score': 10.4}, {'connected_gene': 'INTS10', 'score': 9.89}, {'connected_gene': 'CSGALNACT1', 'score': 9.82}, {'connected_gene': 'LOC105379312', 'score': 0.44}, {'connected_gene': 'GC08M020154', 'score': 0.34}]
chr8 GH08I020156 20156778 20159633 0.2 [{'connected_gene': 'SLC18A1', 'score': 19.32}, {'connected_gene': 'GC08M020154', 'score': 0.77}]
chr8 GH08I020182 20182674 20183532 1.02 [{'connected_gene': 'SLC18A1', 'score': 550.77}, {'connected_gene': 'GC08M020154', 'score': 0.31}]
chr8 GH08I019967 19967525 19969794 0.31 [{'connected_gene': 'INTS10', 'score': 11.73}, {'connected_gene': 'LOC105379311', 'score': 10.76}, {'connected_gene': 'SLC18A1', 'score': 10.65}, {'connected_gene': 'GC08M019958', 'score': 0.44}]
chr8 GH08I020188 20188201 20190000 1.33 [{'connected_gene': 'ATP6V1B2', 'score': 27.64}, {'connected_gene': 'PIR35798', 'score': 0.77}, {'connected_gene': 'SLC18A1', 'score': 0.44}]
chr8 GH08I020186 20186201 20187848 1.18 [{'connected_gene': 'ATP6V1B2', 'score': 18.13}, {'connected_gene': 'SLC18A1', 'score': 0.77}, {'connected_gene': 'PIR35798', 'score': 0.44}]
chr8 GH08I020206 20206679 20206996 0.52 [{'connected_gene': 'ATP6V1B2', 'score': 28.61}, {'connected_gene': 'RNU6-892P', 'score': 11.63}, {'connected_gene': 'SLC18A1', 'score': 10.72}, {'connected_gene': 'LZTS1', 'score': 10.14}, {'connected_gene': 'GC08P020230', 'score': 0.34}]
chr8 GH08I020175 20175181 20177164 0.31 [{'connected_gene': 'ATP6V1B2', 'score': 11.25}, {'connected_gene': 'RNU6-892P', 'score': 9.85}, {'connected_gene': 'SLC18A1', 'score': 8.88}, {'connected_gene': 'GC08M020154', 'score': 0.34}]
chr8 GH08I020208 20208871 20210064 0.2 [{'connected_gene': 'RNU6-892P', 'score': 11.63}, {'connected_gene': 'SLC18A1', 'score': 11.08}, {'connected_gene': 'LZTS1', 'score': 10.15}, {'connected_gene': 'ATP6V1B2', 'score': 0.39}, {'connected_gene': 'GC08P020230', 'score': 0.34}]
chr8 GH08I019962 19962137 19962800 0.71 [{'connected_gene': 'GC08M019958', 'score': 550.77}, {'connected_gene': 'SLC18A1', 'score': 10.65}, {'connected_gene': 'LPL', 'score': 0.21}, {'connected_gene': 'LOC105379311', 'score': 0.13}]
chr8 GH08I020193 20192070 20192219 0.31 [{'connected_gene': 'PIR35798', 'score': 550.77}, {'connected_gene': 'SLC18A1', 'score': 0.44}]
chr8 GH08I020144 20144890 20145881 0.62 [{'connected_gene': 'GC08M020154', 'score': 0.44}, {'connected_gene': 'LOC105379312', 'score': 0.37}, {'connected_gene': 'SLC18A1', 'score': 0.28}]

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