|
Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for MYT1L |
Gene summary |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for MYT1L |
Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
PCC | UP | ENST00000648814.1 | MYT1L-240:retained_intron:MYT1L | 6.713972e+01 | 8.801186e-01 | 5.190347e-05 | 3.944046e-03 |
STG | UP | ENST00000648366.1 | MYT1L-228:protein_coding:MYT1L | 1.834161e+01 | 9.491658e-01 | 1.538485e-06 | 7.126142e-04 |
PG | UP | ENST00000649313.1 | MYT1L-251:protein_coding:MYT1L | 2.952567e+01 | 1.980256e+00 | 2.594713e-04 | 5.505727e-03 |
CB | UP | ENST00000648486.1 | MYT1L-232:retained_intron:MYT1L | 1.102425e+02 | 9.616133e-01 | 5.470360e-11 | 3.845854e-09 |
CB | DOWN | ENST00000648814.1 | MYT1L-240:retained_intron:MYT1L | 4.015472e+02 | -8.520302e-01 | 1.685346e-07 | 3.300222e-06 |
CB | UP | ENST00000647618.1 | MYT1L-216:protein_coding:MYT1L | 1.374060e+02 | 1.183904e+00 | 3.857309e-05 | 3.299935e-04 |
CB | UP | ENST00000650253.1 | MYT1L-264:lncRNA:MYT1L | 4.829510e+00 | 1.264177e+00 | 3.279584e-04 | 2.020440e-03 |
CB | UP | ENST00000649663.1 | MYT1L-256:protein_coding:MYT1L | 1.493418e+01 | 4.062051e+00 | 1.180005e-03 | 5.939210e-03 |
CB | UP | ENST00000460585.1 | MYT1L-205:lncRNA:MYT1L | 4.237834e+00 | 8.438014e-01 | 1.610611e-03 | 7.698141e-03 |
CB | DOWN | ENST00000649313.1 | MYT1L-251:protein_coding:MYT1L | 3.365115e+01 | -1.502331e+00 | 5.405883e-03 | 2.099898e-02 |
CB | UP | ENST00000647738.1 | MYT1L-220:protein_coding:MYT1L | 5.388276e+02 | 8.241394e-01 | 6.749807e-03 | 2.516830e-02 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MYT1L |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_101649 | chr2 | 1789169:1791262:1791873:1792007:1792321:1792464 | 1791873:1792007 |
exon_skip_102138 | chr2 | 1942982:1943334:1979165:1979227:1979521:1979550 | 1979165:1979227 |
exon_skip_102395 | chr2 | 1912092:1912110:1917205:1917339:1942982:1943334 | 1917205:1917339 |
exon_skip_104850 | chr2 | 1886539:1886607:1887059:1887121:1887488:1887609 | 1887059:1887121 |
exon_skip_109547 | chr2 | 2284470:2284503:2326036:2326111:2330967:2331189 | 2326036:2326111 |
exon_skip_113512 | chr2 | 1917205:1917339:1922286:1923260:1942982:1942992 | 1922286:1923260 |
exon_skip_124299 | chr2 | 1943193:1943334:1979165:1979227:1979521:1979550 | 1979165:1979227 |
exon_skip_13735 | chr2 | 1917205:1917339:1922286:1923260:1942982:1943102 | 1922286:1923260 |
exon_skip_139066 | chr2 | 2172872:2172988:2284404:2284503:2330967:2331189 | 2284404:2284503 |
exon_skip_142377 | chr2 | 1892037:1892287:1903120:1903294:1910240:1910347 | 1903120:1903294 |
exon_skip_143235 | chr2 | 1790278:1791262:1791873:1792007:1792321:1792464 | 1791873:1792007 |
exon_skip_143720 | chr2 | 1917205:1917339:1922286:1923263:1942982:1942992 | 1922286:1923263 |
exon_skip_148481 | chr2 | 1851641:1851703:1886539:1886607:1887488:1887609 | 1886539:1886607 |
exon_skip_153921 | chr2 | 1917205:1917339:1922292:1923263:1942982:1943102 | 1922292:1923263 |
exon_skip_160544 | chr2 | 1886539:1886607:1887059:1887121:1887488:1887605 | 1887059:1887121 |
exon_skip_166131 | chr2 | 2172872:2172988:2284404:2284503:2324769:2324938 | 2284404:2284503 |
exon_skip_166715 | chr2 | 1892037:1892287:1922292:1923263:1942982:1943334 | 1922292:1923263 |
exon_skip_174577 | chr2 | 1917205:1917339:1922292:1923263:1942982:1942994 | 1922292:1923263 |
exon_skip_181400 | chr2 | 1979723:1979777:1997191:1997347:2053978:2054123 | 1997191:1997347 |
exon_skip_181801 | chr2 | 1917205:1917339:1922286:1923260:1942982:1942991 | 1922286:1923260 |
exon_skip_185373 | chr2 | 1917205:1917339:1922286:1923260:1942982:1942994 | 1922286:1923260 |
exon_skip_191796 | chr2 | 1917205:1917339:1922292:1923263:1942982:1942992 | 1922292:1923263 |
exon_skip_202876 | chr2 | 2284404:2284503:2326036:2326111:2330967:2331189 | 2326036:2326111 |
exon_skip_209530 | chr2 | 1922286:1923263:1942982:1943334:1979165:1979227 | 1942982:1943334 |
exon_skip_218525 | chr2 | 1922538:1923263:1942982:1943334:1979165:1979220 | 1942982:1943334 |
exon_skip_219883 | chr2 | 1917205:1917339:1922286:1923260:1942982:1943088 | 1922286:1923260 |
exon_skip_231621 | chr2 | 1917205:1917339:1922286:1923263:1942982:1943088 | 1922286:1923263 |
exon_skip_244968 | chr2 | 1943206:1943334:1979165:1979227:1979521:1979554 | 1979165:1979227 |
exon_skip_248268 | chr2 | 1922701:1923263:1942982:1943334:1979165:1979227 | 1942982:1943334 |
exon_skip_252054 | chr2 | 1917205:1917339:1922292:1923263:1942982:1943334 | 1922292:1923263 |
exon_skip_254556 | chr2 | 1917205:1917339:1922292:1923263:1942982:1943088 | 1922292:1923263 |
exon_skip_260410 | chr2 | 2303483:2304016:2305939:2306155:2330967:2331260 | 2305939:2306155 |
exon_skip_274989 | chr2 | 2054038:2054123:2172872:2172988:2284404:2284503 | 2172872:2172988 |
exon_skip_277580 | chr2 | 1943122:1943334:1979165:1979227:1979521:1979554 | 1979165:1979227 |
exon_skip_277640 | chr2 | 1917205:1917339:1922286:1923260:1942982:1943334 | 1922286:1923260 |
exon_skip_284305 | chr2 | 1912092:1912110:1917205:1917339:1922292:1922517 | 1917205:1917339 |
exon_skip_288989 | chr2 | 1917205:1917339:1922286:1923263:1942982:1943102 | 1922286:1923263 |
exon_skip_289322 | chr2 | 1912092:1912110:1917205:1917339:1922286:1922730 | 1917205:1917339 |
exon_skip_30637 | chr2 | 1851641:1851703:1886539:1886607:1887488:1887605 | 1886539:1886607 |
exon_skip_33366 | chr2 | 1801795:1801799:1809076:1809167:1839149:1839370 | 1809076:1809167 |
exon_skip_36082 | chr2 | 1917205:1917339:1922286:1923263:1942982:1943334 | 1922286:1923263 |
exon_skip_37433 | chr2 | 1943210:1943334:1979165:1979227:1979521:1979554 | 1979165:1979227 |
exon_skip_3858 | chr2 | 1912092:1912110:1917205:1917339:1922286:1922625 | 1917205:1917339 |
exon_skip_38857 | chr2 | 2172872:2172988:2284404:2284503:2326036:2326111 | 2284404:2284503 |
exon_skip_40929 | chr2 | 1912092:1912110:1917205:1917339:1942982:1943001 | 1917205:1917339 |
exon_skip_42127 | chr2 | 1790278:1791262:1792321:1792464:1801696:1801799 | 1792321:1792464 |
exon_skip_66973 | chr2 | 1791926:1792007:1792321:1792464:1801696:1801799 | 1792321:1792464 |
exon_skip_67081 | chr2 | 1851641:1851703:1860162:1860251:1886539:1886607 | 1860162:1860251 |
exon_skip_73728 | chr2 | 1892037:1892287:1903080:1903294:1910240:1910347 | 1903080:1903294 |
exon_skip_82102 | chr2 | 1917205:1917339:1922286:1923263:1942982:1942994 | 1922286:1923263 |
exon_skip_89184 | chr2 | 1997191:1997347:2053978:2054123:2172872:2172949 | 2053978:2054123 |
exon_skip_91858 | chr2 | 1917205:1917339:1922286:1923263:1942982:1942991 | 1922286:1923263 |
exon_skip_99330 | chr2 | 1917205:1917339:1922292:1923263:1942982:1942991 | 1922292:1923263 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for MYT1L |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000428368 | 1997191 | 1997347 | 3UTR-3UTR |
ENST00000428368 | 2053978 | 2054123 | 3UTR-3UTR |
ENST00000428368 | 2172872 | 2172988 | 3UTR-3UTR |
ENST00000428368 | 2284404 | 2284503 | 3UTR-3UTR |
ENST00000428368 | 1809076 | 1809167 | Frame-shift |
ENST00000428368 | 1903080 | 1903294 | Frame-shift |
ENST00000428368 | 1942982 | 1943334 | Frame-shift |
ENST00000428368 | 1792321 | 1792464 | In-frame |
ENST00000428368 | 1886539 | 1886607 | In-frame |
ENST00000428368 | 1917205 | 1917339 | In-frame |
ENST00000428368 | 1922286 | 1923263 | In-frame |
ENST00000428368 | 1979165 | 1979227 | In-frame |
ENST00000428368 | 2326036 | 2326111 | In-frame |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000428368 | 2172872 | 2172988 | 3UTR-3UTR |
ENST00000428368 | 2284404 | 2284503 | 3UTR-3UTR |
ENST00000428368 | 1903080 | 1903294 | Frame-shift |
ENST00000428368 | 1942982 | 1943334 | Frame-shift |
ENST00000428368 | 1917205 | 1917339 | In-frame |
ENST00000428368 | 1922286 | 1923263 | In-frame |
ENST00000428368 | 1979165 | 1979227 | In-frame |
ENST00000428368 | 2326036 | 2326111 | In-frame |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000428368 | 2172872 | 2172988 | 3UTR-3UTR |
ENST00000428368 | 1809076 | 1809167 | Frame-shift |
ENST00000428368 | 1903080 | 1903294 | Frame-shift |
ENST00000428368 | 1942982 | 1943334 | Frame-shift |
ENST00000428368 | 1792321 | 1792464 | In-frame |
ENST00000428368 | 1917205 | 1917339 | In-frame |
ENST00000428368 | 1922286 | 1923263 | In-frame |
ENST00000428368 | 1979165 | 1979227 | In-frame |
ENST00000428368 | 2326036 | 2326111 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MYT1L |
p-ENSG00000186487_img4.png |
Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Lost protein functional features of individual exon skipping events in ROSMAP. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Lost protein functional features of individual exon skipping events in MSBB. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Lost protein functional features of individual exon skipping events in Mayo. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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3'-UTR located exon skipping events that lost miRNA binding sites in MYT1L |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
Mayo | ENST00000428368 | 2172872 | 2172988 | hsa-miR-6715b-3p | chr2:2172934-2172941 | 8mer-1a | chr2:2172933-2172953 | 142.00 | -20.69 |
Mayo | ENST00000428368 | 2172872 | 2172988 | hsa-miR-412-5p | chr2:2172925-2172932 | 8mer-1a | chr2:2172911-2172932 | 157.00 | -21.77 |
Mayo | ENST00000428368 | 2172872 | 2172988 | hsa-miR-4324 | chr2:2172900-2172907 | 8mer-1a | chr2:2172892-2172912 | 157.00 | -22.00 |
Mayo | ENST00000428368 | 2172872 | 2172988 | hsa-miR-9900 | chr2:2172905-2172912 | 8mer-1a | chr2:2172892-2172912 | 157.00 | -22.00 |
Mayo | ENST00000428368 | 2172872 | 2172988 | hsa-miR-6847-5p | chr2:2172972-2172979 | 8mer-1a | chr2:2172958-2172979 | 156.00 | -19.10 |
MSBB | ENST00000428368 | 2284404 | 2284503 | hsa-miR-3116 | chr2:2284448-2284455 | 8mer-1a | chr2:2284442-2284462 | 147.00 | -22.33 |
MSBB | ENST00000428368 | 2284404 | 2284503 | hsa-miR-4423-5p | chr2:2284451-2284458 | 8mer-1a | chr2:2284442-2284462 | 147.00 | -22.33 |
MSBB | ENST00000428368 | 2172872 | 2172988 | hsa-miR-6715b-3p | chr2:2172934-2172941 | 8mer-1a | chr2:2172933-2172953 | 142.00 | -20.69 |
MSBB | ENST00000428368 | 2172872 | 2172988 | hsa-miR-412-5p | chr2:2172925-2172932 | 8mer-1a | chr2:2172911-2172932 | 157.00 | -21.77 |
MSBB | ENST00000428368 | 2172872 | 2172988 | hsa-miR-4324 | chr2:2172900-2172907 | 8mer-1a | chr2:2172892-2172912 | 157.00 | -22.00 |
MSBB | ENST00000428368 | 2172872 | 2172988 | hsa-miR-9900 | chr2:2172905-2172912 | 8mer-1a | chr2:2172892-2172912 | 157.00 | -22.00 |
MSBB | ENST00000428368 | 2172872 | 2172988 | hsa-miR-6847-5p | chr2:2172972-2172979 | 8mer-1a | chr2:2172958-2172979 | 156.00 | -19.10 |
ROSMAP | ENST00000428368 | 1997191 | 1997347 | hsa-miR-6727-3p | chr2:1997236-1997243 | 8mer-1a | chr2:1997236-1997257 | 182.00 | -36.70 |
ROSMAP | ENST00000428368 | 2284404 | 2284503 | hsa-miR-3116 | chr2:2284448-2284455 | 8mer-1a | chr2:2284442-2284462 | 147.00 | -22.33 |
ROSMAP | ENST00000428368 | 2284404 | 2284503 | hsa-miR-4423-5p | chr2:2284451-2284458 | 8mer-1a | chr2:2284442-2284462 | 147.00 | -22.33 |
ROSMAP | ENST00000428368 | 2172872 | 2172988 | hsa-miR-6715b-3p | chr2:2172934-2172941 | 8mer-1a | chr2:2172933-2172953 | 142.00 | -20.69 |
ROSMAP | ENST00000428368 | 2172872 | 2172988 | hsa-miR-412-5p | chr2:2172925-2172932 | 8mer-1a | chr2:2172911-2172932 | 157.00 | -21.77 |
ROSMAP | ENST00000428368 | 2053978 | 2054123 | hsa-miR-5195-3p | chr2:2054018-2054025 | 8mer-1a | chr2:2054009-2054032 | 148.00 | -18.75 |
ROSMAP | ENST00000428368 | 1997191 | 1997347 | hsa-miR-4722-3p | chr2:1997236-1997243 | 8mer-1a | chr2:1997236-1997257 | 182.00 | -36.70 |
ROSMAP | ENST00000428368 | 1997191 | 1997347 | hsa-miR-4522 | chr2:1997252-1997259 | 8mer-1a | chr2:1997240-1997263 | 156.00 | -27.52 |
ROSMAP | ENST00000428368 | 1997191 | 1997347 | hsa-miR-3064-3p | chr2:1997305-1997312 | 8mer-1a | chr2:1997298-1997319 | 160.00 | -22.99 |
ROSMAP | ENST00000428368 | 2053978 | 2054123 | hsa-miR-3065-5p | chr2:2054042-2054049 | 8mer-1a | chr2:2054025-2054049 | 151.00 | -13.71 |
ROSMAP | ENST00000428368 | 2172872 | 2172988 | hsa-miR-4324 | chr2:2172900-2172907 | 8mer-1a | chr2:2172892-2172912 | 157.00 | -22.00 |
ROSMAP | ENST00000428368 | 2053978 | 2054123 | hsa-miR-498-5p | chr2:2054052-2054059 | 8mer-1a | chr2:2054051-2054074 | 155.00 | -18.18 |
ROSMAP | ENST00000428368 | 2053978 | 2054123 | hsa-miR-6513-3p | chr2:2054067-2054074 | 8mer-1a | chr2:2054051-2054074 | 155.00 | -18.18 |
ROSMAP | ENST00000428368 | 1997191 | 1997347 | hsa-miR-5571-3p | chr2:1997210-1997217 | 8mer-1a | chr2:1997205-1997228 | 157.00 | -23.77 |
ROSMAP | ENST00000428368 | 2172872 | 2172988 | hsa-miR-9900 | chr2:2172905-2172912 | 8mer-1a | chr2:2172892-2172912 | 157.00 | -22.00 |
ROSMAP | ENST00000428368 | 2053978 | 2054123 | hsa-miR-4452 | chr2:2054077-2054084 | 8mer-1a | chr2:2054066-2054084 | 147.00 | -15.25 |
ROSMAP | ENST00000428368 | 2053978 | 2054123 | hsa-miR-145-5p | chr2:2054018-2054025 | 8mer-1a | chr2:2054009-2054032 | 148.00 | -18.75 |
ROSMAP | ENST00000428368 | 2053978 | 2054123 | hsa-miR-6843-3p | chr2:2054012-2054019 | 8mer-1a | chr2:2054009-2054032 | 148.00 | -18.75 |
ROSMAP | ENST00000428368 | 2172872 | 2172988 | hsa-miR-6847-5p | chr2:2172972-2172979 | 8mer-1a | chr2:2172958-2172979 | 156.00 | -19.10 |
ROSMAP | ENST00000428368 | 2053978 | 2054123 | hsa-miR-6848-3p | chr2:2054012-2054019 | 8mer-1a | chr2:2054009-2054032 | 148.00 | -18.75 |
ROSMAP | ENST00000428368 | 1997191 | 1997347 | hsa-miR-2861 | chr2:1997246-1997253 | 8mer-1a | chr2:1997236-1997257 | 182.00 | -36.70 |
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SNVs in the skipped exons for MYT1L |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for MYT1L |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MYT1L |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for MYT1L |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | TRA2A | exon_skip_143235 | -4.000401e-01 | 6.189769e-07 |
CB | HNRNPDL | exon_skip_143235 | 4.189324e-01 | 1.569437e-07 |
IFG | TARDBP | exon_skip_36082 | 5.205078e-01 | 4.517151e-03 |
IFG | PABPN1 | exon_skip_36082 | 4.197822e-01 | 2.615650e-02 |
IFG | PCBP2 | exon_skip_36082 | 5.324067e-01 | 3.540101e-03 |
IFG | SRSF4 | exon_skip_36082 | 4.580191e-01 | 1.424660e-02 |
IFG | HNRNPF | exon_skip_36082 | 4.017955e-01 | 3.405573e-02 |
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RelatedDrugs for MYT1L |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MYT1L |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |