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
ENST00000308724 [[24028773, 24029059], [24029146, 24029245], [24029463, 24029627], [24030504, 24030640], [24030720, 24030844], [24031170, 24031275], [24031496, 24031624], [24031712, 24031802], [24032588, 24032711], [24032792, 24032847], [24032924, 24033065], [24033254, 24033368], [24033541, 24033597], [24033770, 24033869], [24034327, 24034408], [24034814, 24034910], [24035024, 24035101], [24035272, 24035369], [24035486, 24035628], [24035770, 24035895], [24036319, 24037279]] [[24028957, 24029059], [24029146, 24029245], [24029463, 24029627], [24030504, 24030640], [24030720, 24030844], [24031170, 24031275], [24031496, 24031624], [24031712, 24031802], [24032588, 24032711], [24032792, 24032847], [24032924, 24033065], [24033254, 24033368], [24033541, 24033597], [24033770, 24033869], [24034327, 24034408], [24034814, 24034910], [24035024, 24035101], [24035272, 24035369], [24035486, 24035628], [24035770, 24035895], [24036319, 24036523]]
ENST00000554892 [[24028775, 24029059], [24029146, 24029520]] None
ENST00000554554 [[24028776, 24029059], [24029146, 24029245], [24029463, 24029627], [24030504, 24030640], [24030720, 24031624], [24031712, 24032847], [24032924, 24033158]] None
ENST00000397120 [[24028776, 24029059], [24029146, 24029245], [24029463, 24029627], [24030504, 24030640], [24030720, 24030844], [24031170, 24031275], [24031496, 24031624], [24031712, 24031802], [24032588, 24032711], [24032792, 24032847], [24032924, 24033065], [24033254, 24033368], [24033541, 24033597], [24033770, 24033869], [24034327, 24034408], [24034814, 24034910], [24035024, 24035101], [24035272, 24035369], [24035486, 24035628], [24035770, 24035895], [24036319, 24036528], [24036947, 24037012]] [[24028957, 24029059], [24029146, 24029245], [24029463, 24029627], [24030504, 24030640], [24030720, 24030844], [24031170, 24031275], [24031496, 24031624], [24031712, 24031802], [24032588, 24032711], [24032792, 24032847], [24032924, 24033065], [24033254, 24033368], [24033541, 24033597], [24033770, 24033869], [24034327, 24034408], [24034814, 24034910], [24035024, 24035101], [24035272, 24035369], [24035486, 24035628], [24035770, 24035895], [24036319, 24036523]]
ENST00000535852 [[24028784, 24029059], [24029146, 24029245], [24029463, 24029627], [24030504, 24030640], [24030720, 24030844], [24031170, 24031275], [24031496, 24031624], [24031712, 24031802], [24032588, 24032711], [24032792, 24032847], [24032924, 24033065], [24033254, 24033368], [24033541, 24033597], [24033770, 24033869], [24034327, 24034408], [24034814, 24034910], [24035024, 24035369], [24035486, 24035628], [24036445, 24036528], [24036659, 24036674]] None
ENST00000460049 [[24028816, 24029059], [24029146, 24029245], [24029463, 24029627], [24030504, 24030640], [24030720, 24030844], [24031170, 24031275], [24031496, 24031624], [24031712, 24031802], [24032588, 24032711], [24032792, 24032847], [24032924, 24033065], [24033254, 24033430], [24033541, 24033597], [24033770, 24033869], [24034327, 24034408], [24034814, 24034910], [24035024, 24035369], [24035486, 24035628], [24036319, 24036528], [24036947, 24037007]] None
ENST00000465445 [[24028820, 24029059], [24029146, 24029245], [24029463, 24029627], [24030504, 24030640], [24030720, 24030844], [24031170, 24031275], [24031496, 24031624], [24031712, 24031802], [24032588, 24032711], [24032792, 24032847], [24032924, 24033430], [24033541, 24033597], [24033770, 24033869], [24034327, 24034408], [24034814, 24034910], [24035272, 24035369], [24035486, 24035628], [24036319, 24036533]] None
ENST00000557391 [[24028897, 24029059], [24029146, 24029245], [24029463, 24029661]] None
ENST00000554477 [[24029196, 24029245], [24029463, 24029627], [24030504, 24030640], [24030720, 24030844], [24031496, 24031615]] [[24029196, 24029245], [24029463, 24029627], [24030504, 24030640], [24030720, 24030844], [24031496, 24031615]]
ENST00000555510 [[24030527, 24030640], [24030720, 24030844], [24031170, 24031275], [24031496, 24031624], [24031712, 24031802], [24032408, 24032432]] None
ENST00000556966 [[24030617, 24030640], [24030720, 24030844], [24031170, 24031624], [24031712, 24032209]] None
ENST00000554982 [[24031395, 24031624], [24031712, 24031802], [24032588, 24032847], [24032924, 24033062]] None
ENST00000555118 [[24031577, 24031624], [24031712, 24031802], [24032588, 24032711], [24032792, 24032818], [24032924, 24033000]] None
ENST00000557132 [[24032304, 24032491], [24032588, 24032847], [24032924, 24032952]] None
ENST00000557162 [[24032460, 24032491], [24032588, 24032711], [24032792, 24032818], [24032924, 24033065], [24033254, 24033368], [24033541, 24033597], [24033770, 24033840]] [[24032688, 24032711], [24032792, 24032818], [24032924, 24033065], [24033254, 24033368], [24033541, 24033597], [24033770, 24033840]]
ENST00000555789 [[24032681, 24032818], [24032924, 24033065], [24033254, 24033294]] None
ENST00000555974 [[24032681, 24032711], [24032792, 24033065], [24033254, 24033300]] None
ENST00000556741 [[24032685, 24032847], [24032924, 24033065], [24033254, 24033304]] None
ENST00000554977 [[24032827, 24032847], [24032924, 24033065], [24033254, 24033368], [24033541, 24033597], [24033770, 24034008]] None
ENST00000556152 [[24033243, 24033430], [24033541, 24034027]] None
ENST00000556277 [[24033824, 24033869], [24034327, 24034408], [24034814, 24034910], [24035272, 24035369], [24035486, 24035628], [24035770, 24035895], [24036319, 24036528], [24036947, 24037043]] None
ENST00000553629 [[24034188, 24034408], [24034814, 24035369], [24035486, 24035628], [24035770, 24035895], [24036319, 24036528], [24036947, 24036997]] None
ENST00000556743 [[24034191, 24034910], [24035024, 24035369], [24035486, 24035628], [24036319, 24036528], [24036947, 24036988]] None
ENST00000556943 [[24034329, 24034408], [24034814, 24034910], [24035024, 24035101], [24035272, 24035369], [24035486, 24035628], [24036319, 24036528], [24036947, 24036994]] [[24035625, 24035628], [24036319, 24036523]]
ENST00000555896 [[24034743, 24034910], [24035024, 24035369], [24035486, 24035628], [24036319, 24036528], [24036659, 24036723]] None
ENST00000557619 [[24034761, 24035369], [24035486, 24035628], [24036319, 24036528], [24036947, 24036992]] None
ENST00000557482 [[24035020, 24035101], [24035272, 24035369], [24035486, 24035628], [24035770, 24035895], [24036319, 24036528], [24036659, 24036733]] None
ENST00000554312 [[24035032, 24035369], [24035486, 24035784]] None
ENST00000557189 [[24035068, 24035101], [24035272, 24035369], [24035486, 24035628], [24035770, 24035895], [24036319, 24036524], [24036947, 24037023]] [[24035068, 24035101], [24035272, 24035369], [24035486, 24035628], [24035770, 24035895]]
ENST00000553756 [[24035080, 24035101], [24035272, 24035369], [24035486, 24035628], [24036319, 24036528], [24036805, 24036992]] [[24035625, 24035628], [24036319, 24036523]]
ENST00000554069 [[24035139, 24035369], [24035486, 24035628], [24035770, 24035895], [24036319, 24036528], [24036659, 24036708]] None
ENST00000556843 [[24035547, 24035628], [24035770, 24035895], [24036319, 24036524], [24036805, 24036956]] [[24035547, 24035628], [24035770, 24035895]]
ENST00000553685 [[24036017, 24036528], [24036947, 24036997]] None
ENST00000554816 [[24036325, 24036559], [24036659, 24036722]] None
NM_001282475 [[24028771, 24029059], [24029146, 24029245], [24029463, 24029627], [24030504, 24030640], [24030720, 24030844], [24031170, 24031275], [24031496, 24031624], [24031712, 24031802], [24032588, 24032711], [24032792, 24032847], [24032924, 24033065], [24033254, 24033368], [24033541, 24033597], [24033770, 24033869], [24034327, 24034408], [24034814, 24034910], [24035024, 24035369], [24035486, 24035628], [24036445, 24036528], [24036659, 24036733]] [[24028957, 24029059], [24029146, 24029245], [24029463, 24029627], [24030504, 24030640], [24030720, 24030844], [24031170, 24031275], [24031496, 24031624], [24031712, 24031802], [24032588, 24032711], [24032792, 24032847], [24032924, 24033065], [24033254, 24033368], [24033541, 24033597], [24033770, 24033869], [24034327, 24034408], [24034814, 24034910], [24035024, 24035369], [24035486, 24035570]]
NM_003917 [[24028771, 24029059], [24029146, 24029245], [24029463, 24029627], [24030504, 24030640], [24030720, 24030844], [24031170, 24031275], [24031496, 24031624], [24031712, 24031802], [24032588, 24032711], [24032792, 24032847], [24032924, 24033065], [24033254, 24033368], [24033541, 24033597], [24033770, 24033869], [24034327, 24034408], [24034814, 24034910], [24035024, 24035101], [24035272, 24035369], [24035486, 24035628], [24035770, 24035895], [24036319, 24036528], [24036947, 24037045]] [[24028957, 24029059], [24029146, 24029245], [24029463, 24029627], [24030504, 24030640], [24030720, 24030844], [24031170, 24031275], [24031496, 24031624], [24031712, 24031802], [24032588, 24032711], [24032792, 24032847], [24032924, 24033065], [24033254, 24033368], [24033541, 24033597], [24033770, 24033869], [24034327, 24034408], [24034814, 24034910], [24035024, 24035101], [24035272, 24035369], [24035486, 24035628], [24035770, 24035895], [24036319, 24036523]]
NM_001282474 [[24028771, 24029059], [24029146, 24029245], [24029463, 24029627], [24030504, 24030640], [24030720, 24030844], [24031170, 24031275], [24031496, 24031624], [24031712, 24031802], [24032588, 24032711], [24032792, 24032847], [24032924, 24033065], [24033254, 24033430], [24033541, 24033597], [24033770, 24033869], [24034327, 24034408], [24034814, 24034910], [24035024, 24035369], [24035486, 24035628], [24036319, 24036528], [24036947, 24037045]] [[24028957, 24029059], [24029146, 24029245], [24029463, 24029627], [24030504, 24030640], [24030720, 24030844], [24031170, 24031275], [24031496, 24031624], [24031712, 24031802], [24032588, 24032711], [24032792, 24032847], [24032924, 24033013]]
Promoter
Chrom Start End Description
chr14 24036698 24036729 CAGE_peak_2_at_AP1G2_5end
chr14 24036943 24037025 CAGE_peak_1_at_AP1G2_5end
chr14 24037536 24037551 CAGE_peak_3_at_AP1G2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I023562 23562572 23564122 0.75 [{'connected_gene': 'AP1G2', 'score': 23.94}, {'connected_gene': 'JPH4', 'score': 4.6}, {'connected_gene': 'LOC102724814', 'score': 0.77}]
chr14 GH14I023536 23536306 23540137 1.42 [{'connected_gene': 'AP1G2', 'score': 24.46}, {'connected_gene': 'THTPA', 'score': 11.78}, {'connected_gene': 'MYH6', 'score': 10.17}, {'connected_gene': 'ZFHX2', 'score': 5.62}, {'connected_gene': 'JPH4', 'score': 3.65}, {'connected_gene': 'CMTM5', 'score': 2.93}, {'connected_gene': 'SLC22A17', 'score': 2.23}, {'connected_gene': 'DHRS4L2', 'score': 1.54}, {'connected_gene': 'ENSG00000273618', 'score': 0.44}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.31}]
chr14 GH14I023566 23566485 23570161 2.27 [{'connected_gene': 'AP1G2', 'score': 570.42}, {'connected_gene': 'KHNYN', 'score': 33.65}, {'connected_gene': 'RNA5SP383', 'score': 33.57}, {'connected_gene': 'ACIN1', 'score': 29.78}, {'connected_gene': 'NGDN', 'score': 24.11}, {'connected_gene': 'TM9SF1', 'score': 22.54}, {'connected_gene': 'MMP14', 'score': 21.95}, {'connected_gene': 'TINF2', 'score': 21.08}, {'connected_gene': 'PRMT5', 'score': 20.86}, {'connected_gene': 'C14orf93', 'score': 20.61}, {'connected_gene': 'ENSG00000259321', 'score': 19.13}, {'connected_gene': 'RNF31', 'score': 14.02}, {'connected_gene': 'LOC102724814', 'score': 13.36}, {'connected_gene': 'CIDEB', 'score': 12.88}, {'connected_gene': 'NYNRIN', 'score': 12.32}, {'connected_gene': 'RBM23', 'score': 12.17}, {'connected_gene': 'NFATC4', 'score': 11.87}, {'connected_gene': 'HAUS4', 'score': 11.82}, {'connected_gene': 'SDR39U1', 'score': 10.61}, {'connected_gene': 'PSME1', 'score': 9.84}, {'connected_gene': 'JPH4', 'score': 0.39}]
chr14 GH14I023550 23550179 23552361 1.99 [{'connected_gene': 'ZFHX2', 'score': 550.77}, {'connected_gene': 'AP1G2', 'score': 23.31}, {'connected_gene': 'KHNYN', 'score': 21.83}, {'connected_gene': 'ACIN1', 'score': 19.31}, {'connected_gene': 'RNA5SP383', 'score': 15.82}, {'connected_gene': 'TM9SF1', 'score': 14.36}, {'connected_gene': 'RNF31', 'score': 14.03}, {'connected_gene': 'LOC102724814', 'score': 13.36}, {'connected_gene': 'TINF2', 'score': 13.17}, {'connected_gene': 'CIDEB', 'score': 12.88}, {'connected_gene': 'PRMT5', 'score': 12.25}, {'connected_gene': 'RBM23', 'score': 12.17}, {'connected_gene': 'HAUS4', 'score': 11.82}, {'connected_gene': 'C14orf93', 'score': 11.72}, {'connected_gene': 'NGDN', 'score': 11.21}, {'connected_gene': 'MMP14', 'score': 10.64}, {'connected_gene': 'ENSG00000259321', 'score': 10.09}, {'connected_gene': 'ENSG00000273618', 'score': 0.34}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.28}, {'connected_gene': 'THTPA', 'score': 0.28}]
chr14 GH14I023555 23555269 23559997 2.07 [{'connected_gene': 'ZFHX2', 'score': 550.77}, {'connected_gene': 'THTPA', 'score': 550.25}, {'connected_gene': 'AP1G2', 'score': 23.44}, {'connected_gene': 'DHRS4-AS1', 'score': 4.53}, {'connected_gene': 'LOC102724814', 'score': 0.77}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.25}]
chr14 GH14I023579 23577392 23577541 0.38 [{'connected_gene': 'JPH4', 'score': 550.77}, {'connected_gene': 'AP1G2', 'score': 0.44}]
chr14 GH14I023578 23577092 23577261 0.43 [{'connected_gene': 'JPH4', 'score': 550.77}, {'connected_gene': 'AP1G2', 'score': 0.44}]
chr14 GH14I023576 23576312 23576461 0.46 [{'connected_gene': 'JPH4', 'score': 0.77}, {'connected_gene': 'AP1G2', 'score': 0.44}]
chr14 GH14I023577 23577706 23579866 1.17 [{'connected_gene': 'JPH4', 'score': 555.48}, {'connected_gene': 'ZFHX2', 'score': 11.37}, {'connected_gene': 'ZFHX2-AS1', 'score': 11.24}, {'connected_gene': 'DHRS4-AS1', 'score': 4.96}, {'connected_gene': 'AP1G2', 'score': 0.44}]
chr14 GH14I023548 23547460 23549800 1.15 [{'connected_gene': 'NGDN', 'score': 12.99}, {'connected_gene': 'EFS', 'score': 12.43}, {'connected_gene': 'CDH24', 'score': 11.05}, {'connected_gene': 'AP1G2', 'score': 10.62}, {'connected_gene': 'NYNRIN', 'score': 10.01}, {'connected_gene': 'NFATC4', 'score': 10.0}, {'connected_gene': 'DHRS4', 'score': 5.02}, {'connected_gene': 'LOC102724814', 'score': 4.94}, {'connected_gene': 'DHRS4-AS1', 'score': 4.7}, {'connected_gene': 'ZFHX2', 'score': 0.44}, {'connected_gene': 'ENSG00000273618', 'score': 0.37}, {'connected_gene': 'THTPA', 'score': 0.28}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.28}]
chr14 GH14I023572 23572001 23573272 0.84 [{'connected_gene': 'KHNYN', 'score': 21.83}, {'connected_gene': 'ACIN1', 'score': 19.31}, {'connected_gene': 'RNA5SP383', 'score': 15.82}, {'connected_gene': 'TM9SF1', 'score': 14.36}, {'connected_gene': 'RNF31', 'score': 14.03}, {'connected_gene': 'LOC102724814', 'score': 13.32}, {'connected_gene': 'TINF2', 'score': 13.18}, {'connected_gene': 'CIDEB', 'score': 12.88}, {'connected_gene': 'PRMT5', 'score': 12.26}, {'connected_gene': 'RBM23', 'score': 12.17}, {'connected_gene': 'HAUS4', 'score': 11.82}, {'connected_gene': 'C14orf93', 'score': 11.72}, {'connected_gene': 'NGDN', 'score': 11.18}, {'connected_gene': 'MMP14', 'score': 10.64}, {'connected_gene': 'ENSG00000259321', 'score': 10.09}, {'connected_gene': 'AP1G2', 'score': 0.77}, {'connected_gene': 'JPH4', 'score': 0.44}]
chr14 GH14I023145 23145149 23147953 1.63 [{'connected_gene': 'ACIN1', 'score': 34.05}, {'connected_gene': 'C14orf93', 'score': 25.15}, {'connected_gene': 'ENSG00000259321', 'score': 22.37}, {'connected_gene': 'RBM23', 'score': 16.08}, {'connected_gene': 'LOC102724814', 'score': 15.92}, {'connected_gene': 'NGDN', 'score': 12.81}, {'connected_gene': 'RNF212B', 'score': 11.64}, {'connected_gene': 'SLC7A8', 'score': 11.64}, {'connected_gene': 'HAUS4', 'score': 11.64}, {'connected_gene': 'CEBPE', 'score': 11.53}, {'connected_gene': 'PRMT5', 'score': 10.38}, {'connected_gene': 'AP1G2', 'score': 10.33}, {'connected_gene': 'SLC22A17', 'score': 9.93}, {'connected_gene': 'DHRS4', 'score': 6.0}, {'connected_gene': 'RNU6-1138P', 'score': 0.44}]
chr14 GH14I023544 23544279 23546314 1.41 [{'connected_gene': 'ACIN1', 'score': 32.53}, {'connected_gene': 'KHNYN', 'score': 29.6}, {'connected_gene': 'NGDN', 'score': 27.39}, {'connected_gene': 'RNF31', 'score': 24.66}, {'connected_gene': 'RNA5SP383', 'score': 24.26}, {'connected_gene': 'PRMT5', 'score': 22.28}, {'connected_gene': 'RBM23', 'score': 20.62}, {'connected_gene': 'PRMT5-AS1', 'score': 17.6}, {'connected_gene': 'TSSK4', 'score': 14.36}, {'connected_gene': 'TM9SF1', 'score': 14.36}, {'connected_gene': 'NYNRIN', 'score': 13.33}, {'connected_gene': 'LOC102724814', 'score': 13.29}, {'connected_gene': 'TINF2', 'score': 13.17}, {'connected_gene': 'CIDEB', 'score': 12.88}, {'connected_gene': 'SLC7A8', 'score': 11.86}, {'connected_gene': 'HAUS4', 'score': 11.82}, {'connected_gene': 'C14orf93', 'score': 11.72}, {'connected_gene': 'SDR39U1', 'score': 10.87}, {'connected_gene': 'MMP14', 'score': 10.64}, {'connected_gene': 'PABPN1', 'score': 10.42}, {'connected_gene': 'ENSG00000259321', 'score': 10.09}, {'connected_gene': 'NOP9', 'score': 9.99}, {'connected_gene': 'NFATC4', 'score': 9.96}, {'connected_gene': 'IPO4', 'score': 9.77}, {'connected_gene': 'AP1G2', 'score': 9.57}, {'connected_gene': 'JPH4', 'score': 7.13}, {'connected_gene': 'ZFHX2', 'score': 5.8}, {'connected_gene': 'SLC22A17', 'score': 5.0}, {'connected_gene': 'CMTM5', 'score': 2.48}, {'connected_gene': 'DHRS4L2', 'score': 2.16}, {'connected_gene': 'BCL2L2', 'score': 1.71}, {'connected_gene': 'THTPA', 'score': 1.45}, {'connected_gene': 'ENSG00000273618', 'score': 0.39}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.29}]
chr14 GH14I023112 23112592 23116249 1.43 [{'connected_gene': 'ACIN1', 'score': 19.45}, {'connected_gene': 'LOC102724814', 'score': 12.97}, {'connected_gene': 'PRMT5', 'score': 12.31}, {'connected_gene': 'RBM23', 'score': 12.22}, {'connected_gene': 'HAUS4', 'score': 11.9}, {'connected_gene': 'C14orf93', 'score': 11.84}, {'connected_gene': 'NGDN', 'score': 11.09}, {'connected_gene': 'MMP14', 'score': 10.68}, {'connected_gene': 'AP1G2', 'score': 10.33}, {'connected_gene': 'CEBPE', 'score': 8.53}, {'connected_gene': 'C14orf119', 'score': 2.5}, {'connected_gene': 'CDH24', 'score': 1.8}, {'connected_gene': 'REM2', 'score': 1.69}, {'connected_gene': 'LMLN2', 'score': 0.44}]
chr14 GH14I022829 22829241 22831039 2.23 [{'connected_gene': 'MRPL52', 'score': 564.34}, {'connected_gene': 'SLC7A7', 'score': 550.77}, {'connected_gene': 'AP1G2', 'score': 10.31}, {'connected_gene': 'MMP14', 'score': 0.44}]
chr14 GH14I023478 23478212 23479061 0.78 [{'connected_gene': 'ZFHX2-AS1', 'score': 12.18}, {'connected_gene': 'ZFHX2', 'score': 12.06}, {'connected_gene': 'THTPA', 'score': 11.16}, {'connected_gene': 'AP1G2', 'score': 11.07}, {'connected_gene': 'MYH7', 'score': 10.6}, {'connected_gene': 'MIR208B', 'score': 10.46}, {'connected_gene': 'NGDN', 'score': 7.61}]

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