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
ENST00000496253 [[103332298, 103332500], [103334648, 103334793]] None
ENST00000258436 [[103332298, 103335666], [103340158, 103340368], [103343303, 103343433], [103347483, 103347527], [103348780, 103348868], [103353104, 103353313]] [[103334878, 103335666], [103340158, 103340368], [103343303, 103343433], [103347483, 103347527], [103348780, 103348868], [103353104, 103353269]]
ENST00000438943 [[103333496, 103335666], [103340158, 103340368], [103343303, 103343433], [103347483, 103347527], [103348482, 103348597], [103348780, 103348868], [103353104, 103353337]] [[103348571, 103348597], [103348780, 103348868], [103353104, 103353269]]
ENST00000437075 [[103334029, 103335666], [103340158, 103340368], [103343303, 103343433], [103347483, 103347527], [103348482, 103348597], [103348780, 103348851], [103353104, 103353337]] [[103348536, 103348597], [103348780, 103348851], [103353104, 103353269]]
ENST00000411991 [[103335272, 103335666], [103340158, 103340337], [103343303, 103343433], [103347483, 103347527], [103348482, 103348597], [103348780, 103348868], [103353104, 103353337]] [[103348571, 103348597], [103348780, 103348868], [103353104, 103353269]]
ENST00000428085 [[103335462, 103335666], [103340158, 103340337], [103343303, 103343433], [103347483, 103347527], [103348780, 103348799]] [[103340290, 103340337], [103343303, 103343433], [103347483, 103347527], [103348780, 103348799]]
ENST00000421966 [[103343376, 103343433], [103347483, 103347527], [103348780, 103348868], [103352988, 103353347]] [[103353068, 103353269]]
ENST00000462099 [[103348744, 103348885], [103353104, 103353298]] None
NM_001322080 [[103331084, 103335666], [103340158, 103340368], [103343303, 103343433], [103347483, 103347527], [103348780, 103348868], [103352988, 103353347]] [[103334878, 103335666], [103340158, 103340368], [103343303, 103343433], [103347483, 103347527], [103348780, 103348850]]
NM_001322081 [[103331084, 103335666], [103340158, 103340368], [103343303, 103343433], [103347483, 103347527], [103348780, 103348885], [103353104, 103353347]] [[103334878, 103335666], [103340158, 103340368], [103343303, 103343433], [103347483, 103347527], [103348780, 103348850]]
NR_136173 [[103331084, 103335666], [103340158, 103340337], [103343303, 103343433], [103347483, 103347527], [103348482, 103348597], [103348780, 103348868], [103353104, 103353347]] None
NM_032718 [[103331084, 103335666], [103340158, 103340368], [103343303, 103343433], [103347483, 103347527], [103348780, 103348868], [103353104, 103353347]] [[103334878, 103335666], [103340158, 103340368], [103343303, 103343433], [103347483, 103347527], [103348780, 103348868], [103353104, 103353269]]
NR_136174 [[103331084, 103332500], [103334648, 103335666], [103340158, 103340337], [103343303, 103343433], [103347483, 103347527], [103348780, 103348868], [103353104, 103353347]] None
Promoter
Chrom Start End Description
chr2 103353277 103353365 CAGE_peak_1_at_MFSD9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I102636 102636349 102637358 0.52 [{'connected_gene': 'IL18R1', 'score': 4.57}, {'connected_gene': 'SLC9A2', 'score': 0.37}, {'connected_gene': 'MFSD9', 'score': 0.15}, {'connected_gene': 'GC02P101903', 'score': 0.02}]
chr2 GH02I102735 102735397 102737749 1.99 [{'connected_gene': 'MFSD9', 'score': 550.77}, {'connected_gene': 'TMEM182', 'score': 550.77}, {'connected_gene': 'SLC9A2', 'score': 0.13}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102770 102770369 102773994 0.51 [{'connected_gene': 'MFSD9', 'score': 25.88}, {'connected_gene': 'TMEM182', 'score': 0.28}, {'connected_gene': 'LINC01796', 'score': 0.13}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102782 102782769 102784712 0.31 [{'connected_gene': 'MFSD9', 'score': 39.28}, {'connected_gene': 'TMEM182', 'score': 0.25}, {'connected_gene': 'LINC01796', 'score': 0.14}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102808 102808844 102811028 0.43 [{'connected_gene': 'MFSD9', 'score': 38.43}, {'connected_gene': 'TMEM182', 'score': 0.19}, {'connected_gene': 'LINC01796', 'score': 0.17}, {'connected_gene': 'GC02P101903', 'score': 0.02}]
chr2 GH02I102766 102766330 102768534 0.49 [{'connected_gene': 'MFSD9', 'score': 71.94}, {'connected_gene': 'TMEM182', 'score': 0.29}, {'connected_gene': 'LINC01796', 'score': 0.13}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102812 102812777 102816729 0.38 [{'connected_gene': 'MFSD9', 'score': 38.42}, {'connected_gene': 'TMEM182', 'score': 0.18}, {'connected_gene': 'LINC01796', 'score': 0.18}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102787 102787805 102789114 0.54 [{'connected_gene': 'MFSD9', 'score': 17.48}, {'connected_gene': 'TMEM182', 'score': 0.23}, {'connected_gene': 'LINC01796', 'score': 0.14}, {'connected_gene': 'GC02P101903', 'score': 0.02}]
chr2 GH02I102754 102754493 102756082 0.38 [{'connected_gene': 'MFSD9', 'score': 26.0}, {'connected_gene': 'TMEM182', 'score': 0.37}, {'connected_gene': 'LINC01796', 'score': 0.11}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102801 102801460 102803513 1 [{'connected_gene': 'MFSD9', 'score': 17.92}, {'connected_gene': 'TMEM182', 'score': 0.2}, {'connected_gene': 'LINC01796', 'score': 0.16}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I103669 103669000 103670334 0.91 [{'connected_gene': 'MFSD9', 'score': 4.6}, {'connected_gene': 'GC02P103623', 'score': 0.25}, {'connected_gene': 'LOC105373520', 'score': 0.1}]
chr2 GH02I102663 102663295 102665274 1.33 [{'connected_gene': 'SLC9A2', 'score': 14.03}, {'connected_gene': 'IL1RL2', 'score': 3.79}, {'connected_gene': 'MFSD9', 'score': 0.19}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102660 102660067 102660526 0.65 [{'connected_gene': 'SLC9A2', 'score': 10.97}, {'connected_gene': 'MFSD9', 'score': 0.18}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102633 102633573 102633624 0.2 [{'connected_gene': 'SLC9A2', 'score': 0.39}, {'connected_gene': 'MFSD9', 'score': 0.15}, {'connected_gene': 'GC02P101903', 'score': 0.02}]
chr2 GH02I102637 102637462 102637524 0.31 [{'connected_gene': 'SLC9A2', 'score': 0.37}, {'connected_gene': 'MFSD9', 'score': 0.15}, {'connected_gene': 'GC02P101903', 'score': 0.02}]
chr2 GH02I102632 102632502 102632651 0.46 [{'connected_gene': 'SLC9A2', 'score': 0.39}, {'connected_gene': 'MFSD9', 'score': 0.15}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102654 102654202 102654351 0.57 [{'connected_gene': 'SLC9A2', 'score': 11.54}, {'connected_gene': 'MFSD9', 'score': 0.18}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102618 102618507 102621225 1.87 [{'connected_gene': 'SLC9A2', 'score': 569.54}, {'connected_gene': 'SLC9A4', 'score': 10.46}, {'connected_gene': 'ENSG00000236525', 'score': 5.12}, {'connected_gene': 'IL18RAP', 'score': 4.26}, {'connected_gene': 'MFSD9', 'score': 0.13}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102708 102708982 102709111 0.56 [{'connected_gene': 'SLC9A2', 'score': 10.96}, {'connected_gene': 'SLC9A4', 'score': 10.68}, {'connected_gene': 'MFSD9', 'score': 0.31}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102698 102698562 102698611 0.56 [{'connected_gene': 'SLC9A2', 'score': 11.34}, {'connected_gene': 'SLC9A4', 'score': 10.46}, {'connected_gene': 'MFSD9', 'score': 0.28}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102621 102621762 102621911 0.49 [{'connected_gene': 'SLC9A4', 'score': 10.46}, {'connected_gene': 'SLC9A2', 'score': 0.77}, {'connected_gene': 'MFSD9', 'score': 0.13}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102761 102761292 102762977 0.9 [{'connected_gene': 'TMEM182', 'score': 550.31}, {'connected_gene': 'MFSD9', 'score': 58.55}, {'connected_gene': 'LINC01796', 'score': 0.12}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I101960 101960007 101963600 1.28 [{'connected_gene': 'LINC01127', 'score': 550.77}, {'connected_gene': 'IL1R2', 'score': 27.13}, {'connected_gene': 'MFSD9', 'score': 4.88}, {'connected_gene': 'GC02P101903', 'score': 0.22}]
chr2 GH02I102146 102146694 102149856 0.62 [{'connected_gene': 'ENSG00000226925', 'score': 11.23}, {'connected_gene': 'IL1RL2', 'score': 7.44}, {'connected_gene': 'MFSD9', 'score': 7.22}, {'connected_gene': 'IL1R1', 'score': 6.41}, {'connected_gene': 'GC02M102141', 'score': 0.44}, {'connected_gene': 'PIR60869', 'score': 0.44}, {'connected_gene': 'GC02P101903', 'score': 0.07}]
chr2 GH02I102154 102154234 102156936 1.34 [{'connected_gene': 'ENSG00000226925', 'score': 11.88}, {'connected_gene': 'IL1RL2', 'score': 11.36}, {'connected_gene': 'IL1R1', 'score': 6.35}, {'connected_gene': 'MFSD9', 'score': 6.14}, {'connected_gene': 'IL18R1', 'score': 5.93}, {'connected_gene': 'IL1RL1', 'score': 5.23}, {'connected_gene': 'GC02M102141', 'score': 0.39}, {'connected_gene': 'PIR60869', 'score': 0.39}, {'connected_gene': 'GC02P101903', 'score': 0.07}]
chr2 GH02I102121 102120954 102123321 1.29 [{'connected_gene': 'ENSG00000226925', 'score': 10.57}, {'connected_gene': 'MFSD9', 'score': 7.51}, {'connected_gene': 'IL1R1', 'score': 6.67}, {'connected_gene': 'GC02M102141', 'score': 0.37}, {'connected_gene': 'PIR60869', 'score': 0.37}, {'connected_gene': 'GC02P101903', 'score': 0.08}]
chr2 GH02I102120 102120761 102120910 0.69 [{'connected_gene': 'ENSG00000226925', 'score': 10.56}, {'connected_gene': 'MFSD9', 'score': 7.36}, {'connected_gene': 'IL1R1', 'score': 6.92}, {'connected_gene': 'GC02M102141', 'score': 0.34}, {'connected_gene': 'PIR60869', 'score': 0.34}, {'connected_gene': 'GC02P101903', 'score': 0.08}]
chr2 GH02I102150 102150001 102150200 0.4 [{'connected_gene': 'ENSG00000226925', 'score': 11.23}, {'connected_gene': 'MFSD9', 'score': 6.55}, {'connected_gene': 'GC02M102141', 'score': 0.44}, {'connected_gene': 'PIR60869', 'score': 0.44}, {'connected_gene': 'IL1R1', 'score': 0.17}, {'connected_gene': 'GC02P101903', 'score': 0.07}]
chr2 GH02I101971 101971592 101974199 0.89 [{'connected_gene': 'ENSG00000226925', 'score': 9.49}, {'connected_gene': 'IL1R2', 'score': 5.95}, {'connected_gene': 'MFSD9', 'score': 4.4}, {'connected_gene': 'LINC01127', 'score': 0.39}, {'connected_gene': 'GC02P101903', 'score': 0.2}]
chr2 GH02I102126 102126461 102129557 1.14 [{'connected_gene': 'ENSG00000226925', 'score': 10.68}, {'connected_gene': 'IL1R1', 'score': 10.59}, {'connected_gene': 'MFSD9', 'score': 7.37}, {'connected_gene': 'IL1RL2', 'score': 3.44}, {'connected_gene': 'MAP4K4', 'score': 3.35}, {'connected_gene': 'GC02M102141', 'score': 0.39}, {'connected_gene': 'PIR60869', 'score': 0.39}, {'connected_gene': 'GC02P101903', 'score': 0.07}]
chr2 GH02I102151 102151212 102152328 0.2 [{'connected_gene': 'ENSG00000226925', 'score': 11.06}, {'connected_gene': 'IL1R1', 'score': 7.48}, {'connected_gene': 'MFSD9', 'score': 6.57}, {'connected_gene': 'GC02M102141', 'score': 0.39}, {'connected_gene': 'PIR60869', 'score': 0.39}, {'connected_gene': 'GC02P101903', 'score': 0.07}]