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
ENST00000395634 [[111065680, 111066743], [111071126, 111071204], [111310970, 111311075], [111312406, 111312628]] [[111066617, 111066743], [111071126, 111071204], [111310970, 111311075], [111312406, 111312436]]
ENST00000450761 [[111066387, 111066743], [111071126, 111071204], [111091466, 111091527], [111333020, 111333161]] [[111066617, 111066743], [111071126, 111071204], [111091466, 111091469]]
ENST00000514515 [[110998317, 111001438], [111005431, 111005601], [111013636, 111013711], [111071126, 111071204], [111091466, 111091527], [111092832, 111092891]] [[111013678, 111013711], [111071126, 111071204], [111091466, 111091469]]
ENST00000509025 [[111004887, 111005601], [111013636, 111013711], [111071126, 111071204], [111091466, 111091527], [111092832, 111092891]] [[111013678, 111013711], [111071126, 111071204], [111091466, 111091469]]
ENST00000379671 [[111064508, 111066743], [111071126, 111071204], [111091466, 111091527], [111092832, 111092876], [111093258, 111093421]] [[111066617, 111066743], [111071126, 111071204], [111091466, 111091469]]
ENST00000257435 [[111064992, 111066743], [111071126, 111071204], [111091466, 111091527], [111092832, 111092955]] [[111066617, 111066743], [111071126, 111071204], [111091466, 111091469]]
ENST00000447165 [[111064999, 111066743], [111071126, 111071204], [111091466, 111091948]] [[111066617, 111066743], [111071126, 111071204], [111091466, 111091469]]
ENST00000446294 [[111065012, 111066743], [111071126, 111071204], [111091466, 111091527], [111092832, 111092876], [111093016, 111093167]] [[111066617, 111066743], [111071126, 111071204], [111091466, 111091469]]
ENST00000515855 [[111066213, 111066743], [111070366, 111070439], [111071126, 111071204], [111091466, 111091527], [111092832, 111092891]] [[111070412, 111070439], [111071126, 111071204], [111091466, 111091469]]
ENST00000507742 [[111066338, 111066743], [111071126, 111071204], [111092832, 111092926]] None
ENST00000509979 [[111066354, 111066743], [111070366, 111070439], [111071126, 111071204], [111091466, 111091527], [111092832, 111092876], [111093641, 111093767]] [[111070412, 111070439], [111071126, 111071204], [111091466, 111091469]]
ENST00000419114 [[111066400, 111066743], [111071126, 111071204], [111091466, 111091527], [111092832, 111092876], [111093074, 111093252]] [[111066617, 111066743], [111071126, 111071204], [111091466, 111091469]]
ENST00000509427 [[111066420, 111066743], [111071126, 111071204], [111091466, 111091527], [111092832, 111092876], [111093025, 111093106]] [[111066617, 111066743], [111071126, 111071204], [111091466, 111091469]]
ENST00000453526 [[111066443, 111066743], [111071126, 111071204], [111091466, 111091527], [111092832, 111092870], [111093016, 111093098]] [[111066617, 111066743], [111071126, 111071204], [111091466, 111091469]]
ENST00000455559 [[111066502, 111066743], [111071126, 111071204], [111091466, 111091527], [111092832, 111092876], [111093641, 111093915]] [[111066617, 111066743], [111071126, 111071204], [111091466, 111091469]]
ENST00000508870 [[111066564, 111066743], [111071126, 111071204], [111091466, 111091623], [111092832, 111092876], [111093258, 111093340]] [[111066617, 111066743], [111071126, 111071204], [111091466, 111091469]]
ENST00000513100 [[111066628, 111066743], [111071126, 111071204], [111091466, 111091623], [111092832, 111092876], [111093628, 111093791]] [[111066628, 111066743], [111071126, 111071204], [111091466, 111091469]]
ENST00000504018 [[111066650, 111066743], [111071126, 111071204], [111091466, 111091948]] None
ENST00000508161 [[111066723, 111066743], [111071126, 111071204], [111091466, 111091527], [111092832, 111092876], [111093628, 111093900]] [[111066723, 111066743], [111071126, 111071204], [111091466, 111091469]]
ENST00000503429 [[111070184, 111071204], [111092832, 111092891]] None
ENST00000505864 [[111070680, 111071204], [111091466, 111091527], [111092832, 111092876], [111093258, 111093330]] None
ENST00000507032 [[111071192, 111071204], [111091466, 111091623], [111092832, 111092876], [111093641, 111093739]] [[111071192, 111071204], [111091466, 111091469]]
ENST00000513684 [[111091053, 111091527], [111092832, 111092861]] None
NM_001142475 [[111064999, 111066743], [111071126, 111071204], [111310970, 111311075], [111312406, 111312628]] [[111066617, 111066743], [111071126, 111071204], [111310970, 111311075], [111312406, 111312436]]
NM_001142474 [[111064999, 111066743], [111071126, 111071204], [111311000, 111311075], [111312406, 111312628]] [[111066617, 111066743], [111071126, 111071204], [111311000, 111311075], [111312406, 111312436]]
NM_001142483 [[111064999, 111066743], [111071126, 111071204], [111091466, 111091948]] [[111066617, 111066743], [111071126, 111071204], [111091466, 111091469]]
NM_004772 [[111064999, 111066743], [111071126, 111071204], [111091466, 111091527], [111092832, 111092945]] [[111066617, 111066743], [111071126, 111071204], [111091466, 111091469]]
NM_001142482 [[111064999, 111066743], [111071126, 111071204], [111091466, 111091527], [111092832, 111092876], [111093016, 111093104]] [[111066617, 111066743], [111071126, 111071204], [111091466, 111091469]]
NM_001142481 [[111064999, 111066743], [111071126, 111071204], [111091466, 111091527], [111092832, 111092876], [111093025, 111093106]] [[111066617, 111066743], [111071126, 111071204], [111091466, 111091469]]
NM_001142479 [[111064999, 111066743], [111071126, 111071204], [111091466, 111091527], [111092832, 111092876], [111093074, 111093252]] [[111066617, 111066743], [111071126, 111071204], [111091466, 111091469]]
NM_001142480 [[111064999, 111066743], [111071126, 111071204], [111091466, 111091527], [111092832, 111092870], [111093074, 111093252]] [[111066617, 111066743], [111071126, 111071204], [111091466, 111091469]]
NM_001142478 [[111064999, 111066743], [111071126, 111071204], [111091466, 111091527], [111092832, 111092876], [111093258, 111093399]] [[111066617, 111066743], [111071126, 111071204], [111091466, 111091469]]
NM_001142477 [[111064999, 111066743], [111071126, 111071204], [111091466, 111091527], [111092832, 111092876], [111093628, 111093793]] [[111066617, 111066743], [111071126, 111071204], [111091466, 111091469]]
NM_001142476 [[111064999, 111066743], [111071126, 111071204], [111091466, 111091527], [111092832, 111092876], [111093641, 111093915]] [[111066617, 111066743], [111071126, 111071204], [111091466, 111091469]]
Promoter
Chrom Start End Description
chr5 111066537 111066541 CAGE_peak_21_at_C5orf13_5end
chr5 111091990 111091994 CAGE_peak_10_at_C5orf13_5end
chr5 111092873 111092898 CAGE_peak_1_at_C5orf13_5end
chr5 111092930 111092941 CAGE_peak_7_at_C5orf13_5end
chr5 111093030 111093073 CAGE_peak_3_at_C5orf13_5end
chr5 111093081 111093111 CAGE_peak_2_at_C5orf13_5end
chr5 111093123 111093136 CAGE_peak_6_at_C5orf13_5end
chr5 111093169 111093178 CAGE_peak_8_at_C5orf13_5end
chr5 111093364 111093400 CAGE_peak_4_at_C5orf13_5end
chr5 111093406 111093458 CAGE_peak_5_at_C5orf13_5end
chr5 111093669 111093674 CAGE_peak_16_at_C5orf13_5end
chr5 111093717 111093743 CAGE_peak_9_at_C5orf13_5end
chr5 111093759 111093772 CAGE_peak_13_at_C5orf13_5end
chr5 111312488 111312498 CAGE_peak_35_at_C5orf13_5end
chr5 111312622 111312634 CAGE_peak_17_at_C5orf13_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I112199 112199577 112199730 0.24 [{'connected_gene': 'NREP', 'score': 1.58}, {'connected_gene': 'ENSG00000251187', 'score': 0.44}, {'connected_gene': 'GC05M112191', 'score': 0.44}, {'connected_gene': 'EPB41L4A', 'score': 0.08}]
chr5 GH05I111753 111753601 111759250 2.45 [{'connected_gene': 'NREP', 'score': 554.38}, {'connected_gene': 'RPS3AP21', 'score': 22.16}, {'connected_gene': 'SNORA13', 'score': 13.11}, {'connected_gene': 'WDR36', 'score': 11.58}, {'connected_gene': 'BCLAF1P1', 'score': 10.0}, {'connected_gene': 'RN7SKP57', 'score': 0.28}, {'connected_gene': 'LOC105379122', 'score': 0.19}]
chr5 GH05I111996 111996682 112000133 0.82 [{'connected_gene': 'NREP', 'score': 550.77}, {'connected_gene': 'STARD4', 'score': 5.08}, {'connected_gene': 'PIR59149', 'score': 0.25}, {'connected_gene': 'NREP-AS1', 'score': 0.17}]
chr5 GH05I111746 111746771 111750163 0.96 [{'connected_gene': 'NREP', 'score': 5.16}, {'connected_gene': 'RN7SKP57', 'score': 0.31}, {'connected_gene': 'LOC105379122', 'score': 0.18}]
chr5 GH05I111683 111683279 111683497 0.22 [{'connected_gene': 'NREP', 'score': 2.35}, {'connected_gene': 'GC05M111608', 'score': 0.37}, {'connected_gene': 'RN7SKP57', 'score': 0.28}, {'connected_gene': 'STARD4-AS1', 'score': 0.09}]
chr5 GH05I111680 111680113 111680325 0.22 [{'connected_gene': 'NREP', 'score': 2.01}, {'connected_gene': 'GC05M111608', 'score': 0.39}, {'connected_gene': 'RN7SKP57', 'score': 0.28}, {'connected_gene': 'STARD4-AS1', 'score': 0.1}]
chr5 GH05I111703 111703212 111705144 0.99 [{'connected_gene': 'NREP', 'score': 4.58}, {'connected_gene': 'RN7SKP57', 'score': 0.37}, {'connected_gene': 'GC05M111608', 'score': 0.28}, {'connected_gene': 'STARD4-AS1', 'score': 0.08}]
chr5 GH05I111589 111589190 111589516 0.22 [{'connected_gene': 'NREP', 'score': 3.2}, {'connected_gene': 'HMGN1P13', 'score': 0.37}, {'connected_gene': 'GC05M111608', 'score': 0.18}, {'connected_gene': 'STARD4-AS1', 'score': 0.18}]
chr5 GH05I111976 111976921 111976980 0.7 [{'connected_gene': 'NREP', 'score': 561.41}, {'connected_gene': 'NREP-AS1', 'score': 0.21}]
chr5 GH05I111935 111935341 111938360 0.38 [{'connected_gene': 'NREP', 'score': 11.0}, {'connected_gene': 'NREP-AS1', 'score': 10.46}]
chr5 GH05I112167 112167120 112167217 0.27 [{'connected_gene': 'EPB41L4A', 'score': 13.96}, {'connected_gene': 'ENSG00000251187', 'score': 10.46}, {'connected_gene': 'NREP', 'score': 3.87}, {'connected_gene': 'PIR36107', 'score': 0.77}, {'connected_gene': 'ENSG00000250882', 'score': 0.44}]
chr5 GH05I112145 112145843 112147400 1.2 [{'connected_gene': 'EPB41L4A', 'score': 5.79}, {'connected_gene': 'APC', 'score': 4.85}, {'connected_gene': 'NREP', 'score': 4.25}, {'connected_gene': 'EPB41L4A-AS1', 'score': 0.39}, {'connected_gene': 'GC05P112053', 'score': 0.16}]
chr5 GH05I111967 111967759 111969808 0.31 [{'connected_gene': 'STARD4', 'score': 5.06}, {'connected_gene': 'NREP', 'score': 0.31}, {'connected_gene': 'NREP-AS1', 'score': 0.22}]
chr5 GH05I111957 111957286 111962826 0.2 [{'connected_gene': 'STARD4', 'score': 5.25}, {'connected_gene': 'EPB41L4A', 'score': 4.58}, {'connected_gene': 'NREP', 'score': 0.28}, {'connected_gene': 'NREP-AS1', 'score': 0.25}]
chr5 GH05I111829 111829114 111831153 0.69 [{'connected_gene': 'STARD4', 'score': 5.05}, {'connected_gene': 'LOC105379122', 'score': 0.77}, {'connected_gene': 'HMGN1P14', 'score': 0.37}, {'connected_gene': 'NREP', 'score': 0.1}]
chr5 GH05I111952 111952548 111955483 0.66 [{'connected_gene': 'STARD4', 'score': 5.13}, {'connected_gene': 'NREP-AS1', 'score': 0.26}, {'connected_gene': 'NREP', 'score': 0.26}]
chr5 GH05I111947 111947524 111949826 0.86 [{'connected_gene': 'STARD4', 'score': 4.95}, {'connected_gene': 'NREP-AS1', 'score': 0.28}, {'connected_gene': 'NREP', 'score': 0.25}]
chr5 GH05I111929 111929048 111932055 1.24 [{'connected_gene': 'STARD4', 'score': 5.64}, {'connected_gene': 'NREP-AS1', 'score': 0.37}, {'connected_gene': 'NREP', 'score': 0.2}]
chr5 GH05I111720 111720499 111721638 0.2 [{'connected_gene': 'RN7SKP57', 'score': 550.77}, {'connected_gene': 'NREP', 'score': 5.51}, {'connected_gene': 'LOC105379122', 'score': 0.14}, {'connected_gene': 'STARD4-AS1', 'score': 0.08}]
chr5 GH05I111719 111719257 111720464 0.56 [{'connected_gene': 'RN7SKP57', 'score': 550.77}, {'connected_gene': 'NREP', 'score': 5.4}, {'connected_gene': 'GC05M111608', 'score': 0.23}, {'connected_gene': 'STARD4-AS1', 'score': 0.08}]
chr5 GH05I111718 111718593 111718899 0.26 [{'connected_gene': 'RN7SKP57', 'score': 550.77}, {'connected_gene': 'NREP', 'score': 3.12}, {'connected_gene': 'GC05M111608', 'score': 0.23}, {'connected_gene': 'STARD4-AS1', 'score': 0.08}]
chr5 GH05I111752 111752601 111752800 0.4 [{'connected_gene': 'RN7SKP57', 'score': 0.29}, {'connected_gene': 'LOC105379122', 'score': 0.19}, {'connected_gene': 'NREP', 'score': 0.07}]
chr5 GH05I111763 111763024 111763173 0.58 [{'connected_gene': 'RN7SKP57', 'score': 0.26}, {'connected_gene': 'LOC105379122', 'score': 0.21}, {'connected_gene': 'NREP', 'score': 0.07}]
chr5 GH05I111740 111740814 111745876 1.33 [{'connected_gene': 'RN7SKP57', 'score': 0.34}, {'connected_gene': 'LOC105379122', 'score': 0.18}, {'connected_gene': 'NREP', 'score': 0.07}]
chr5 GH05I111733 111733143 111739682 1.14 [{'connected_gene': 'RN7SKP57', 'score': 0.37}, {'connected_gene': 'LOC105379122', 'score': 0.16}, {'connected_gene': 'STARD4-AS1', 'score': 0.07}, {'connected_gene': 'NREP', 'score': 0.07}]
chr5 GH05I111730 111730660 111731904 1.04 [{'connected_gene': 'RN7SKP57', 'score': 0.39}, {'connected_gene': 'LOC105379122', 'score': 0.15}, {'connected_gene': 'STARD4-AS1', 'score': 0.08}, {'connected_gene': 'NREP', 'score': 0.06}]
chr5 GH05I111694 111694304 111694453 0.56 [{'connected_gene': 'RN7SKP57', 'score': 0.31}, {'connected_gene': 'GC05M111608', 'score': 0.31}, {'connected_gene': 'STARD4-AS1', 'score': 0.09}, {'connected_gene': 'NREP', 'score': 0.06}]
chr5 GH05I111774 111774388 111775627 1.04 [{'connected_gene': 'LOC105379122', 'score': 0.23}, {'connected_gene': 'RN7SKP57', 'score': 0.23}, {'connected_gene': 'NREP', 'score': 0.07}]
chr5 GH05I111810 111810198 111810873 0.49 [{'connected_gene': 'LOC105379122', 'score': 0.37}, {'connected_gene': 'RN7SKP57', 'score': 0.16}, {'connected_gene': 'NREP', 'score': 0.09}]
chr5 GH05I111847 111847866 111849626 0.38 [{'connected_gene': 'HMGN1P14', 'score': 0.77}, {'connected_gene': 'GC05M111883', 'score': 0.26}, {'connected_gene': 'NREP', 'score': 0.11}]
chr5 GH05I111932 111932324 111932473 0.4 [{'connected_gene': 'NREP-AS1', 'score': 0.37}, {'connected_gene': 'NREP', 'score': 0.2}]
chr5 GH05I111945 111945433 111946441 0.2 [{'connected_gene': 'NREP-AS1', 'score': 0.29}, {'connected_gene': 'NREP', 'score': 0.23}]
chr5 GH05I112004 112004240 112006199 0.89 [{'connected_gene': 'NREP-AS1', 'score': 9.59}, {'connected_gene': 'NREP', 'score': 0.44}, {'connected_gene': 'PIR59149', 'score': 0.26}]
chr5 GH05I111950 111950915 111950952 0.45 [{'connected_gene': 'NREP-AS1', 'score': 0.28}, {'connected_gene': 'NREP', 'score': 0.25}]
chr5 GH05I112006 112006814 112007200 0.96 [{'connected_gene': 'NREP-AS1', 'score': 9.59}, {'connected_gene': 'STARD4', 'score': 2.57}, {'connected_gene': 'NREP', 'score': 0.44}, {'connected_gene': 'PIR59149', 'score': 0.28}]
chr5 GH05I111942 111942017 111943901 0.31 [{'connected_gene': 'NREP-AS1', 'score': 10.58}, {'connected_gene': 'STARD4', 'score': 5.17}, {'connected_gene': 'NREP', 'score': 0.23}]
chr5 GH05I111983 111983624 111985042 1.02 [{'connected_gene': 'NREP-AS1', 'score': 9.87}, {'connected_gene': 'ENSG00000272389', 'score': 4.54}, {'connected_gene': 'EPB41L4A-AS1', 'score': 4.53}, {'connected_gene': 'NREP', 'score': 0.39}]
chr5 GH05I111697 111697344 111697473 0.8 [{'connected_gene': 'STARD4-AS1', 'score': 10.22}, {'connected_gene': 'EPB41L4A-AS2', 'score': 4.46}, {'connected_gene': 'RN7SKP57', 'score': 0.34}, {'connected_gene': 'GC05M111608', 'score': 0.29}, {'connected_gene': 'NREP', 'score': 0.06}]
chr5 GH05I111681 111680326 111683152 1.08 [{'connected_gene': 'GC05M111608', 'score': 0.37}, {'connected_gene': 'RN7SKP57', 'score': 0.28}, {'connected_gene': 'STARD4-AS1', 'score': 0.1}, {'connected_gene': 'NREP', 'score': 0.06}]
chr5 GH05I111670 111670446 111671780 0.2 [{'connected_gene': 'GC05M111608', 'score': 0.44}, {'connected_gene': 'RN7SKP57', 'score': 0.25}, {'connected_gene': 'STARD4-AS1', 'score': 0.1}, {'connected_gene': 'NREP', 'score': 0.05}]

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