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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for ULK2 |
Gene summary |
Gene information | Gene symbol | ULK2 | Gene ID | 9706 |
Gene name | unc-51 like autophagy activating kinase 2 | |
Synonyms | ATG1B|Unc51.2 | |
Cytomap | 17p11.2 | |
Type of gene | protein-coding | |
Description | serine/threonine-protein kinase ULK2 | |
Modification date | 20180523 | |
UniProtAcc | Q8IYT8 | |
Context | PubMed: ULK2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
ULK2 | GO:0006914 | autophagy | 18936157 |
ULK2 | GO:0046777 | protein autophosphorylation | 18936157 |
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Exon skipping events across known transcript of Ensembl for ULK2 from UCSC genome browser |
Skipped exons in TCGA and GTEx 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. |
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Gene isoform structures and expression levels for ULK2 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ULK2 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_287360 | 17 | 19674142:19674380:19679621:19679720:19680893:19681029 | 19679621:19679720 | ENSG00000083290.15 | ENST00000361658.2 |
exon_skip_287362 | 17 | 19683784:19683942:19684298:19684417:19685201:19685380 | 19684298:19684417 | ENSG00000083290.15 | ENST00000361658.2,ENST00000395544.4 |
exon_skip_287363 | 17 | 19684398:19684417:19685201:19685380:19687009:19687218 | 19685201:19685380 | ENSG00000083290.15 | ENST00000361658.2,ENST00000395544.4,ENST00000571454.2 |
exon_skip_287364 | 17 | 19685273:19685380:19687009:19687218:19689249:19689318 | 19687009:19687218 | ENSG00000083290.15 | ENST00000575432.1,ENST00000361658.2,ENST00000395544.4 |
exon_skip_287365 | 17 | 19687009:19687218:19689249:19689318:19698934:19699038 | 19689249:19689318 | ENSG00000083290.15 | ENST00000575432.1 |
exon_skip_287367 | 17 | 19687009:19687218:19689249:19689399:19698934:19699038 | 19689249:19689399 | ENSG00000083290.15 | ENST00000361658.2,ENST00000395544.4 |
exon_skip_287369 | 17 | 19698934:19699038:19699407:19699595:19700708:19700995 | 19699407:19699595 | ENSG00000083290.15 | ENST00000361658.2,ENST00000395544.4 |
exon_skip_287372 | 17 | 19713690:19713751:19720061:19720233:19728406:19728495 | 19720061:19720233 | ENSG00000083290.15 | ENST00000361658.2,ENST00000395544.4 |
exon_skip_287373 | 17 | 19728406:19728495:19729451:19729499:19741813:19741817 | 19729451:19729499 | ENSG00000083290.15 | ENST00000361658.2,ENST00000395544.4,ENST00000571177.1 |
exon_skip_287378 | 17 | 19729451:19729499:19741813:19741896:19744801:19744860 | 19741813:19741896 | ENSG00000083290.15 | ENST00000361658.2,ENST00000395544.4,ENST00000571177.1 |
exon_skip_287383 | 17 | 19741842:19741896:19744801:19744860:19746433:19746451 | 19744801:19744860 | ENSG00000083290.15 | ENST00000574732.2,ENST00000361658.2,ENST00000395544.4,ENST00000571177.1 |
exon_skip_287385 | 17 | 19750049:19750223:19751567:19751657:19752681:19752692 | 19751567:19751657 | ENSG00000083290.15 | ENST00000574732.2 |
exon_skip_287386 | 17 | 19753054:19753087:19764253:19764368:19768115:19768149 | 19764253:19764368 | ENSG00000083290.15 | ENST00000580118.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ULK2 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_287362 | 17 | 19683784:19683942:19684298:19684417:19685201:19685380 | 19684298:19684417 | ENSG00000083290.15 | ENST00000361658.2,ENST00000395544.4 |
exon_skip_287363 | 17 | 19684398:19684417:19685201:19685380:19687009:19687218 | 19685201:19685380 | ENSG00000083290.15 | ENST00000361658.2,ENST00000395544.4,ENST00000571454.2 |
exon_skip_287364 | 17 | 19685273:19685380:19687009:19687218:19689249:19689318 | 19687009:19687218 | ENSG00000083290.15 | ENST00000361658.2,ENST00000395544.4,ENST00000575432.1 |
exon_skip_287365 | 17 | 19687009:19687218:19689249:19689318:19698934:19699038 | 19689249:19689318 | ENSG00000083290.15 | ENST00000575432.1 |
exon_skip_287367 | 17 | 19687009:19687218:19689249:19689399:19698934:19699038 | 19689249:19689399 | ENSG00000083290.15 | ENST00000361658.2,ENST00000395544.4 |
exon_skip_287369 | 17 | 19698934:19699038:19699407:19699595:19700708:19700995 | 19699407:19699595 | ENSG00000083290.15 | ENST00000361658.2,ENST00000395544.4 |
exon_skip_287372 | 17 | 19713690:19713751:19720061:19720233:19728406:19728495 | 19720061:19720233 | ENSG00000083290.15 | ENST00000361658.2,ENST00000395544.4 |
exon_skip_287373 | 17 | 19728406:19728495:19729451:19729499:19741813:19741817 | 19729451:19729499 | ENSG00000083290.15 | ENST00000361658.2,ENST00000395544.4,ENST00000571177.1 |
exon_skip_287378 | 17 | 19729451:19729499:19741813:19741896:19744801:19744860 | 19741813:19741896 | ENSG00000083290.15 | ENST00000361658.2,ENST00000395544.4,ENST00000571177.1 |
exon_skip_287383 | 17 | 19741842:19741896:19744801:19744860:19746433:19746451 | 19744801:19744860 | ENSG00000083290.15 | ENST00000361658.2,ENST00000395544.4,ENST00000571177.1,ENST00000574732.2 |
exon_skip_287385 | 17 | 19750049:19750223:19751567:19751657:19752681:19752692 | 19751567:19751657 | ENSG00000083290.15 | ENST00000574732.2 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ULK2 |
Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000361658 | 19679621 | 19679720 | 5CDS-5UTR |
ENST00000361658 | 19684298 | 19684417 | Frame-shift |
ENST00000395544 | 19684298 | 19684417 | Frame-shift |
ENST00000361658 | 19685201 | 19685380 | Frame-shift |
ENST00000395544 | 19685201 | 19685380 | Frame-shift |
ENST00000361658 | 19687009 | 19687218 | Frame-shift |
ENST00000395544 | 19687009 | 19687218 | Frame-shift |
ENST00000361658 | 19699407 | 19699595 | Frame-shift |
ENST00000395544 | 19699407 | 19699595 | Frame-shift |
ENST00000361658 | 19720061 | 19720233 | Frame-shift |
ENST00000395544 | 19720061 | 19720233 | Frame-shift |
ENST00000361658 | 19741813 | 19741896 | Frame-shift |
ENST00000395544 | 19741813 | 19741896 | Frame-shift |
ENST00000361658 | 19744801 | 19744860 | Frame-shift |
ENST00000395544 | 19744801 | 19744860 | Frame-shift |
ENST00000361658 | 19689249 | 19689399 | In-frame |
ENST00000395544 | 19689249 | 19689399 | In-frame |
ENST00000361658 | 19729451 | 19729499 | In-frame |
ENST00000395544 | 19729451 | 19729499 | In-frame |
Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000361658 | 19684298 | 19684417 | Frame-shift |
ENST00000395544 | 19684298 | 19684417 | Frame-shift |
ENST00000361658 | 19685201 | 19685380 | Frame-shift |
ENST00000395544 | 19685201 | 19685380 | Frame-shift |
ENST00000361658 | 19687009 | 19687218 | Frame-shift |
ENST00000395544 | 19687009 | 19687218 | Frame-shift |
ENST00000361658 | 19699407 | 19699595 | Frame-shift |
ENST00000395544 | 19699407 | 19699595 | Frame-shift |
ENST00000361658 | 19720061 | 19720233 | Frame-shift |
ENST00000395544 | 19720061 | 19720233 | Frame-shift |
ENST00000361658 | 19741813 | 19741896 | Frame-shift |
ENST00000395544 | 19741813 | 19741896 | Frame-shift |
ENST00000361658 | 19744801 | 19744860 | Frame-shift |
ENST00000395544 | 19744801 | 19744860 | Frame-shift |
ENST00000361658 | 19689249 | 19689399 | In-frame |
ENST00000395544 | 19689249 | 19689399 | In-frame |
ENST00000361658 | 19729451 | 19729499 | In-frame |
ENST00000395544 | 19729451 | 19729499 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ULK2 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
Loci of skipped exons in TCGA 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 |
ENST00000361658 | 3925 | 1036 | 19729451 | 19729499 | 1307 | 1354 | 262 | 278 |
ENST00000395544 | 6027 | 1036 | 19729451 | 19729499 | 1288 | 1335 | 262 | 278 |
ENST00000361658 | 3925 | 1036 | 19689249 | 19689399 | 2621 | 2770 | 700 | 750 |
ENST00000395544 | 6027 | 1036 | 19689249 | 19689399 | 2602 | 2751 | 700 | 750 |
Loci of skipped exons in GTEx 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 |
ENST00000361658 | 3925 | 1036 | 19729451 | 19729499 | 1307 | 1354 | 262 | 278 |
ENST00000395544 | 6027 | 1036 | 19729451 | 19729499 | 1288 | 1335 | 262 | 278 |
ENST00000361658 | 3925 | 1036 | 19689249 | 19689399 | 2621 | 2770 | 700 | 750 |
ENST00000395544 | 6027 | 1036 | 19689249 | 19689399 | 2602 | 2751 | 700 | 750 |
Lost protein functional features of individual exon skipping events in TCGA. |
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 |
Q8IYT8 | 262 | 278 | 1 | 1036 | Chain | ID=PRO_0000086782;Note=Serine/threonine-protein kinase ULK2 |
Q8IYT8 | 262 | 278 | 1 | 1036 | Chain | ID=PRO_0000086782;Note=Serine/threonine-protein kinase ULK2 |
Q8IYT8 | 262 | 278 | 9 | 271 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q8IYT8 | 262 | 278 | 9 | 271 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q8IYT8 | 700 | 750 | 1 | 1036 | Chain | ID=PRO_0000086782;Note=Serine/threonine-protein kinase ULK2 |
Q8IYT8 | 700 | 750 | 1 | 1036 | Chain | ID=PRO_0000086782;Note=Serine/threonine-protein kinase ULK2 |
Lost protein functional features of individual exon skipping events in GTEx. |
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 |
Q8IYT8 | 262 | 278 | 1 | 1036 | Chain | ID=PRO_0000086782;Note=Serine/threonine-protein kinase ULK2 |
Q8IYT8 | 262 | 278 | 1 | 1036 | Chain | ID=PRO_0000086782;Note=Serine/threonine-protein kinase ULK2 |
Q8IYT8 | 262 | 278 | 9 | 271 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q8IYT8 | 262 | 278 | 9 | 271 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q8IYT8 | 700 | 750 | 1 | 1036 | Chain | ID=PRO_0000086782;Note=Serine/threonine-protein kinase ULK2 |
Q8IYT8 | 700 | 750 | 1 | 1036 | Chain | ID=PRO_0000086782;Note=Serine/threonine-protein kinase ULK2 |
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SNVs in the skipped exons for ULK2 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
- Non-synonymous mutations located in the skipped exons in TCGA. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
STAD | TCGA-BR-8591-01 | exon_skip_287373 | 19729452 | 19729499 | 19729453 | 19729453 | Frame_Shift_Del | T | - | p.S279fs |
STAD | TCGA-HU-A4GX-01 | exon_skip_287373 | 19729452 | 19729499 | 19729453 | 19729453 | Frame_Shift_Del | T | - | p.S279fs |
STAD | TCGA-HU-A4H4-01 | exon_skip_287373 | 19729452 | 19729499 | 19729453 | 19729453 | Frame_Shift_Del | T | - | p.S279fs |
STAD | TCGA-CG-5728-01 | exon_skip_287373 | 19729452 | 19729499 | 19729489 | 19729489 | Frame_Shift_Del | A | - | p.S267fs |
STAD | TCGA-HU-A4GN-01 | exon_skip_287373 | 19729452 | 19729499 | 19729489 | 19729489 | Frame_Shift_Del | A | - | p.S267fs |
THYM | TCGA-X7-A8DI-01 | exon_skip_287373 | 19729452 | 19729499 | 19729489 | 19729489 | Frame_Shift_Del | A | - | p.F266fs |
THYM | TCGA-X7-A8DI-01 | exon_skip_287373 | 19729452 | 19729499 | 19729489 | 19729489 | Frame_Shift_Del | A | - | p.S267fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_287373 | 19729452 | 19729499 | 19729495 | 19729495 | Frame_Shift_Del | T | - | p.A264fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_287378 | 19741814 | 19741896 | 19741830 | 19741830 | Frame_Shift_Del | T | - | p.K257fs |
LUSC | TCGA-66-2742-01 | exon_skip_287383 | 19744802 | 19744860 | 19744820 | 19744820 | Frame_Shift_Del | T | - | p.N229fs |
STAD | TCGA-CG-4306-01 | exon_skip_287364 | 19687010 | 19687218 | 19687070 | 19687071 | Frame_Shift_Ins | - | G | p.P800fs |
COAD | TCGA-AA-3492-01 | exon_skip_287373 | 19729452 | 19729499 | 19729452 | 19729453 | Frame_Shift_Ins | - | T | p.S279fs |
COAD | TCGA-CM-5861-01 | exon_skip_287373 | 19729452 | 19729499 | 19729452 | 19729453 | Frame_Shift_Ins | - | T | p.S279fs |
STAD | TCGA-BR-8591-01 | exon_skip_287383 | 19744802 | 19744860 | 19744819 | 19744820 | Frame_Shift_Ins | - | T | p.N229fs |
STAD | TCGA-BR-8591-01 | exon_skip_287383 | 19744802 | 19744860 | 19744820 | 19744821 | Frame_Shift_Ins | - | T | p.N229fs |
BLCA | TCGA-UY-A9PA-01 | exon_skip_287378 | 19741814 | 19741896 | 19741844 | 19741844 | Nonsense_Mutation | G | A | p.Q253* |
- Depth of coverage in the three exons composing exon skipping event |
Depth of coverage in three exons | Mutation description |
- 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 |
CW2_LARGE_INTESTINE | 19687010 | 19687218 | 19687070 | 19687070 | Frame_Shift_Del | G | - | p.P800fs |
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19744802 | 19744860 | 19744819 | 19744820 | Frame_Shift_Ins | - | T | p.N229fs |
SNU175_LARGE_INTESTINE | 19679622 | 19679720 | 19679673 | 19679673 | Missense_Mutation | C | T | p.A1034T |
MFE319_ENDOMETRIUM | 19679622 | 19679720 | 19679673 | 19679673 | Missense_Mutation | C | T | p.A1034T |
BICR18_UPPER_AERODIGESTIVE_TRACT | 19684299 | 19684417 | 19684313 | 19684313 | Missense_Mutation | G | A | p.T915I |
NCIH2803_PLEURA | 19684299 | 19684417 | 19684340 | 19684340 | Missense_Mutation | A | G | p.I906T |
VMRCRCZ_KIDNEY | 19684299 | 19684417 | 19684400 | 19684400 | Missense_Mutation | A | C | p.V886G |
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19685202 | 19685380 | 19685352 | 19685352 | Missense_Mutation | A | G | p.L830P |
NCIH716_LARGE_INTESTINE | 19687010 | 19687218 | 19687110 | 19687110 | Missense_Mutation | G | C | p.A787G |
CHLA266_SOFT_TISSUE | 19687010 | 19687218 | 19687171 | 19687171 | Missense_Mutation | C | T | p.V767M |
JHUEM1_ENDOMETRIUM | 19689250 | 19689399 | 19689300 | 19689300 | Missense_Mutation | G | A | p.A734V |
JHUEM1_ENDOMETRIUM | 19689250 | 19689318 | 19689300 | 19689300 | Missense_Mutation | G | A | p.A734V |
HCT15_LARGE_INTESTINE | 19689250 | 19689399 | 19689337 | 19689337 | Missense_Mutation | C | T | p.A722T |
MZ7MEL_SKIN | 19699408 | 19699595 | 19699420 | 19699420 | Missense_Mutation | G | A | p.A662V |
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19699408 | 19699595 | 19699442 | 19699442 | Missense_Mutation | G | A | p.R655W |
SLR21_KIDNEY | 19699408 | 19699595 | 19699468 | 19699468 | Missense_Mutation | A | C | p.L646R |
MZ7MEL_SKIN | 19699408 | 19699595 | 19699525 | 19699525 | Missense_Mutation | C | T | p.G627E |
JHOM2B_OVARY | 19699408 | 19699595 | 19699551 | 19699551 | Missense_Mutation | G | T | p.N618K |
RERFLCAD1_LUNG | 19699408 | 19699595 | 19699551 | 19699551 | Missense_Mutation | G | T | p.N618K |
OVCAR4_OVARY | 19699408 | 19699595 | 19699573 | 19699573 | Missense_Mutation | G | T | p.P611H |
DOV13_OVARY | 19699408 | 19699595 | 19699591 | 19699591 | Missense_Mutation | G | A | p.T605I |
HS294T_SKIN | 19699408 | 19699595 | 19699591 | 19699591 | Missense_Mutation | G | A | p.T605I |
SNGM_ENDOMETRIUM | 19720062 | 19720233 | 19720109 | 19720109 | Missense_Mutation | G | A | p.T350M |
HEC108_ENDOMETRIUM | 19720062 | 19720233 | 19720199 | 19720199 | Missense_Mutation | T | C | p.N320S |
BALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19729452 | 19729499 | 19729481 | 19729481 | Missense_Mutation | G | C | p.P269R |
CW2_LARGE_INTESTINE | 19741814 | 19741896 | 19741847 | 19741847 | Missense_Mutation | G | A | p.L252F |
NCIH1436_LUNG | 19741814 | 19741896 | 19741869 | 19741869 | Missense_Mutation | C | G | p.L244F |
KPNYN_AUTONOMIC_GANGLIA | 19744802 | 19744860 | 19744817 | 19744817 | Missense_Mutation | C | T | p.R230K |
DERL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19689250 | 19689399 | 19689268 | 19689268 | Nonsense_Mutation | G | A | p.R745* |
DERL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19689250 | 19689318 | 19689268 | 19689268 | Nonsense_Mutation | G | A | p.R745* |
OC316_OVARY | 19729452 | 19729499 | 19729453 | 19729453 | Splice_Site | T | - | p.K278fs |
SW48_LARGE_INTESTINE | 19729452 | 19729499 | 19729453 | 19729453 | Splice_Site | T | - | p.K278fs |
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19729452 | 19729499 | 19729453 | 19729453 | Splice_Site | T | - | p.K278fs |
OC314_OVARY | 19729452 | 19729499 | 19729453 | 19729453 | Splice_Site | T | - | p.K278fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ULK2 |
sQTL information located at the skipped exons. |
Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ULK2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ULK2 |
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RelatedDrugs for ULK2 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Q8IYT8 | DB12010 | Fostamatinib | Serine/threonine-protein kinase ULK2 | small molecule | approved|investigational |
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RelatedDiseases for ULK2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
ULK2 | C0345967 | Malignant mesothelioma | 1 | CTD_human |