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
ENST00000395131 [[33257078, 33257397], [33257546, 33257697], [33257950, 33258021], [33258102, 33258227], [33258492, 33258710]] [[33257633, 33257697], [33257950, 33258021], [33258102, 33258227], [33258492, 33258622]]
ENST00000374606 [[33257371, 33257697], [33257950, 33258021], [33258102, 33258227], [33258492, 33258710]] [[33257633, 33257697], [33257950, 33258021], [33258102, 33258227], [33258492, 33258622]]
ENST00000395134 [[33257372, 33257405], [33257546, 33257697], [33257950, 33258021], [33258102, 33258652]] None
ENST00000374610 [[33257373, 33257405], [33257551, 33257697], [33257950, 33258021], [33258102, 33258227], [33258492, 33258639]] [[33257633, 33257697], [33257950, 33258021], [33258102, 33258227], [33258492, 33258622]]
ENST00000374607 [[33257377, 33257405], [33257546, 33257697], [33257950, 33258021], [33258102, 33258227], [33258492, 33258698]] [[33257633, 33257697], [33257950, 33258021], [33258102, 33258227], [33258492, 33258622]]
ENST00000491382 [[33257403, 33257697], [33257950, 33258645]] None
ENST00000463584 [[33257551, 33257697], [33257950, 33258021], [33258102, 33258227], [33264605, 33266178]] [[33257633, 33257697], [33257950, 33258021], [33258102, 33258227], [33264605, 33264657]]
NM_001265596 [[33257373, 33257397], [33257546, 33257697], [33257950, 33258021], [33258102, 33258227], [33258492, 33258711]] [[33257633, 33257697], [33257950, 33258021], [33258102, 33258227], [33258492, 33258622]]
NM_001265595 [[33257373, 33257405], [33257551, 33257697], [33257950, 33258021], [33258102, 33258227], [33258492, 33258711]] [[33257633, 33257697], [33257950, 33258021], [33258102, 33258227], [33258492, 33258622]]
NM_014260 [[33257373, 33257405], [33257546, 33257697], [33257950, 33258021], [33258102, 33258227], [33258492, 33258711]] [[33257633, 33257697], [33257950, 33258021], [33258102, 33258227], [33258492, 33258622]]
NM_001185181 [[33257411, 33257697], [33257950, 33258021], [33258102, 33258227], [33258492, 33258711]] [[33257633, 33257697], [33257950, 33258021], [33258102, 33258227], [33258492, 33258622]]
NM_001265596 [[4701187, 4701211], [4701360, 4701511], [4701764, 4701835], [4701916, 4702041], [4702306, 4702525]] [[4701447, 4701511], [4701764, 4701835], [4701916, 4702041], [4702306, 4702436]]
NM_001265595 [[4701187, 4701219], [4701365, 4701511], [4701764, 4701835], [4701916, 4702041], [4702306, 4702525]] [[4701447, 4701511], [4701764, 4701835], [4701916, 4702041], [4702306, 4702436]]
NM_014260 [[4701187, 4701219], [4701360, 4701511], [4701764, 4701835], [4701916, 4702041], [4702306, 4702525]] [[4701447, 4701511], [4701764, 4701835], [4701916, 4702041], [4702306, 4702436]]
NM_001185181 [[4701225, 4701511], [4701764, 4701835], [4701916, 4702041], [4702306, 4702525]] [[4701447, 4701511], [4701764, 4701835], [4701916, 4702041], [4702306, 4702436]]
NM_001265596 [[4538699, 4538723], [4538872, 4539023], [4539276, 4539347], [4539428, 4539553], [4539818, 4540037]] [[4538959, 4539023], [4539276, 4539347], [4539428, 4539553], [4539818, 4539948]]
NM_001265595 [[4538699, 4538731], [4538877, 4539023], [4539276, 4539347], [4539428, 4539553], [4539818, 4540037]] [[4538959, 4539023], [4539276, 4539347], [4539428, 4539553], [4539818, 4539948]]
NM_014260 [[4538699, 4538731], [4538872, 4539023], [4539276, 4539347], [4539428, 4539553], [4539818, 4540037]] [[4538959, 4539023], [4539276, 4539347], [4539428, 4539553], [4539818, 4539948]]
NM_001185181 [[4538737, 4539023], [4539276, 4539347], [4539428, 4539553], [4539818, 4540037]] [[4538959, 4539023], [4539276, 4539347], [4539428, 4539553], [4539818, 4539948]]
NM_001265596 [[4731117, 4731141], [4731290, 4731441], [4731694, 4731765], [4731846, 4731971], [4732236, 4732455]] [[4731377, 4731441], [4731694, 4731765], [4731846, 4731971], [4732236, 4732366]]
NM_001265595 [[4731117, 4731149], [4731295, 4731441], [4731694, 4731765], [4731846, 4731971], [4732236, 4732455]] [[4731377, 4731441], [4731694, 4731765], [4731846, 4731971], [4732236, 4732366]]
NM_014260 [[4731117, 4731149], [4731290, 4731441], [4731694, 4731765], [4731846, 4731971], [4732236, 4732455]] [[4731377, 4731441], [4731694, 4731765], [4731846, 4731971], [4732236, 4732366]]
NM_001185181 [[4731155, 4731441], [4731694, 4731765], [4731846, 4731971], [4732236, 4732455]] [[4731377, 4731441], [4731694, 4731765], [4731846, 4731971], [4732236, 4732366]]
NM_001265596 [[4489616, 4489640], [4489789, 4489940], [4490193, 4490264], [4490345, 4490470], [4490735, 4490954]] [[4489876, 4489940], [4490193, 4490264], [4490345, 4490470], [4490735, 4490865]]
NM_001265595 [[4489616, 4489648], [4489794, 4489940], [4490193, 4490264], [4490345, 4490470], [4490735, 4490954]] [[4489876, 4489940], [4490193, 4490264], [4490345, 4490470], [4490735, 4490865]]
NM_014260 [[4489616, 4489648], [4489789, 4489940], [4490193, 4490264], [4490345, 4490470], [4490735, 4490954]] [[4489876, 4489940], [4490193, 4490264], [4490345, 4490470], [4490735, 4490865]]
NM_001185181 [[4489654, 4489940], [4490193, 4490264], [4490345, 4490470], [4490735, 4490954]] [[4489876, 4489940], [4490193, 4490264], [4490345, 4490470], [4490735, 4490865]]
Promoter
Chrom Start End Description
chr6 33257346 33257426 CAGE_peak_1_at_PFDN6_5end
chr6 33257427 33257442 CAGE_peak_2_at_PFDN6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I033287 33287960 33291074 2.02 [{'connected_gene': 'WDR46', 'score': 556.79}, {'connected_gene': 'MIR6834', 'score': 550.77}, {'connected_gene': 'PFDN6', 'score': 550.77}, {'connected_gene': 'TAPBP', 'score': 33.45}, {'connected_gene': 'ZBTB22', 'score': 12.18}, {'connected_gene': 'KIFC1', 'score': 11.23}, {'connected_gene': 'PHF1', 'score': 11.21}, {'connected_gene': 'RPL35AP4', 'score': 10.84}, {'connected_gene': 'CUTA', 'score': 10.82}, {'connected_gene': 'SYNGAP1', 'score': 10.81}, {'connected_gene': 'MIR219A1', 'score': 9.9}, {'connected_gene': 'HSD17B8', 'score': 9.9}, {'connected_gene': 'RNY4P10', 'score': 9.89}, {'connected_gene': 'RXRB', 'score': 9.89}, {'connected_gene': 'SLC39A7', 'score': 9.89}, {'connected_gene': 'RGL2', 'score': 7.13}]
chr6 GH06I033296 33296720 33300759 2.32 [{'connected_gene': 'RGL2', 'score': 570.69}, {'connected_gene': 'BRD2', 'score': 28.07}, {'connected_gene': 'VPS52', 'score': 26.01}, {'connected_gene': 'TAPBP', 'score': 25.01}, {'connected_gene': 'WDR46', 'score': 24.24}, {'connected_gene': 'LEMD2', 'score': 17.53}, {'connected_gene': 'RXRB', 'score': 16.65}, {'connected_gene': 'DAXX', 'score': 12.5}, {'connected_gene': 'RPL35P2', 'score': 12.36}, {'connected_gene': 'RPS18', 'score': 10.19}, {'connected_gene': 'ITPR3', 'score': 9.94}, {'connected_gene': 'CUTA', 'score': 4.92}, {'connected_gene': 'PFDN6', 'score': 0.44}, {'connected_gene': 'MIR6834', 'score': 0.44}]
chr6 GH06I033341 33341971 33345973 1.48 [{'connected_gene': 'DAXX', 'score': 67.12}, {'connected_gene': 'WDR46', 'score': 40.07}, {'connected_gene': 'TAPBP', 'score': 31.34}, {'connected_gene': 'BRD2', 'score': 30.06}, {'connected_gene': 'LEMD2', 'score': 28.15}, {'connected_gene': 'RGL2', 'score': 22.34}, {'connected_gene': 'PHF1', 'score': 21.4}, {'connected_gene': 'KIFC1', 'score': 20.65}, {'connected_gene': 'HCG25', 'score': 20.06}, {'connected_gene': 'B3GALT4', 'score': 19.97}, {'connected_gene': 'VPS52', 'score': 13.11}, {'connected_gene': 'RXRB', 'score': 12.33}, {'connected_gene': 'ZBTB22', 'score': 12.11}, {'connected_gene': 'PFDN6', 'score': 12.1}, {'connected_gene': 'RPL35AP4', 'score': 10.99}, {'connected_gene': 'CUTA', 'score': 10.88}, {'connected_gene': 'SYNGAP1', 'score': 10.87}, {'connected_gene': 'BAK1', 'score': 5.31}, {'connected_gene': 'HCG24', 'score': 5.23}, {'connected_gene': 'PSMB8', 'score': 2.67}, {'connected_gene': 'RPS18', 'score': 2.21}, {'connected_gene': 'PSMB9', 'score': 1.66}, {'connected_gene': 'MYL8P', 'score': 0.44}, {'connected_gene': 'LYPLA2P1', 'score': 0.34}]
chr6 GH06I033311 33311699 33324672 2.34 [{'connected_gene': 'DAXX', 'score': 598.32}, {'connected_gene': 'TAPBP', 'score': 573.64}, {'connected_gene': 'ZBTB22', 'score': 550.77}, {'connected_gene': 'VPS52', 'score': 33.66}, {'connected_gene': 'RING1', 'score': 26.76}, {'connected_gene': 'PHF1', 'score': 21.2}, {'connected_gene': 'HCG25', 'score': 19.55}, {'connected_gene': 'WDR46', 'score': 11.87}, {'connected_gene': 'PFDN6', 'score': 11.87}, {'connected_gene': 'B3GALT4', 'score': 11.57}, {'connected_gene': 'RPS18', 'score': 11.57}, {'connected_gene': 'KIFC1', 'score': 11.06}, {'connected_gene': 'SYNGAP1', 'score': 10.92}, {'connected_gene': 'RPL35AP4', 'score': 10.52}, {'connected_gene': 'LEMD2', 'score': 10.17}, {'connected_gene': 'HCG24', 'score': 6.81}, {'connected_gene': 'RGL2', 'score': 6.72}]
chr6 GH06I033373 33373915 33377033 1.14 [{'connected_gene': 'DAXX', 'score': 16.16}, {'connected_gene': 'PHF1', 'score': 11.4}, {'connected_gene': 'ZBTB22', 'score': 11.21}, {'connected_gene': 'TAPBP', 'score': 11.2}, {'connected_gene': 'RGL2', 'score': 10.62}, {'connected_gene': 'WDR46', 'score': 10.61}, {'connected_gene': 'PFDN6', 'score': 10.61}, {'connected_gene': 'ZBTB9', 'score': 10.43}, {'connected_gene': 'LYPLA2P1', 'score': 0.44}, {'connected_gene': 'RPL35AP4', 'score': 0.39}]
chr6 GH06I033259 33259124 33259273 0.38 [{'connected_gene': 'PFDN6', 'score': 11.63}, {'connected_gene': 'WDR46', 'score': 11.63}, {'connected_gene': 'RGL2', 'score': 11.6}, {'connected_gene': 'HSD17B8', 'score': 11.44}, {'connected_gene': 'MIR219A1', 'score': 11.44}, {'connected_gene': 'RNY4P10', 'score': 11.43}, {'connected_gene': 'SLC39A7', 'score': 11.43}, {'connected_gene': 'RXRB', 'score': 11.43}, {'connected_gene': 'KIFC1', 'score': 10.08}, {'connected_gene': 'PHF1', 'score': 10.07}, {'connected_gene': 'HCG25', 'score': 0.44}, {'connected_gene': 'RPS18', 'score': 0.39}, {'connected_gene': 'VPS52', 'score': 0.39}]

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