mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for ABL1
Gene summary
Basic gene Info.Gene symbolABL1
Gene nameABL proto-oncogene 1, non-receptor tyrosine kinase
SynonymsABL|JTK7|bcr/abl|c-ABL|c-ABL1|p150|v-abl
CytomapUCSC genome browser: 9q34.1
Type of geneprotein-coding
RefGenesNM_005157.5,
NM_007313.2,
DescriptionAbelson tyrosine-protein kinase 1bcr/c-abl oncogene proteinc-abl oncogene 1, receptor tyrosine kinaseproto-oncogene c-Ablproto-oncogene tyrosine-protein kinase ABL1tyrosine-protein kinase ABL1v-abl Abelson murine leukemia viral oncogene homolog 1
Modification date20141207
dbXrefs MIM : 189980
HGNC : HGNC
Ensembl : ENSG00000097007
HPRD : 01809
Vega : OTTHUMG00000020813
ProteinUniProt: P00519
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ABL1
BioGPS: 25
PathwayNCI Pathway Interaction Database: ABL1
KEGG: ABL1
REACTOME: ABL1
Pathway Commons: ABL1
ContextiHOP: ABL1
ligand binding site mutation search in PubMed: ABL1
UCL Cancer Institute: ABL1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006974cellular response to DNA damage stimulus15657060
GO:0006975DNA damage induced protein phosphorylation18280240
GO:0018108peptidyl-tyrosine phosphorylation11121037
GO:0042770signal transduction in response to DNA damage15657060
GO:0043065positive regulation of apoptotic process9037071
GO:0050731positive regulation of peptidyl-tyrosine phosphorylation15657060
GO:0051353positive regulation of oxidoreductase activity12893824
GO:0051444negative regulation of ubiquitin-protein transferase activity20823226
GO:0071901negative regulation of protein serine/threonine kinase activity11121037
GO:2001020regulation of response to DNA damage stimulus9461559


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Ligand binding site mutations for ABL1
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 : non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
L248H246YBLCA1
F72F72VBLCA1
Y70,F72D71NBRCA1
Y253Y253FCOAD1
F317F317SCOAD1
H396H396RCOAD1
S385,G383L384PCOAD1
L370L370PCOAD1
V299V299MCOAD1
Q103T104ICOAD1
G254,V256E255GCOAD1
V379V377MCOAD1
D381D381YGBM1
S75S75RKIRC1
R367,D363A365VKIRC1
L370G372VLUAD1
L370V371LLUSC1
R89K87NOV1
Y449Y449CPRAD1
L302G303RSKCM1
G250G250RSTAD1
F72F72VUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for ABL1
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
Y449Y449C0.41616954
F317F317S-1.7716962
L370L370P-1.4233211
G254E255G-1.2554371
V256E255G-1.2554371
L302G303R-1.1625728
F72F72V-1.1558826
V379V377M-1.1482814
F72D71N-0.84928222
Y70D71N-0.84928222
G383L384P-0.8070038
S385L384P-0.8070038
R89K87N-0.71532214
D381D381Y-0.64740661
Q103T104I-0.5979022
H396H396R-0.51940819
G250G250R-0.48999594
L248H246Y-0.4783158
L370V371L-0.40376571
R367A365V-0.39317114
D363A365V-0.39317114
L370G372V-0.32043509
V299V299M-0.30316477
S75S75R-0.22644422
Y253Y253F-0.18276699
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for ABL1 from PDB

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Differential gene expression and gene-gene network for ABL1
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of ABL1 and the right PPI network was created from samples without mutations in the LBS of ABL1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for ABL1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0023473Leukemia, Myelogenous, Chronic, BCR-ABL Positive1319AlteredExpression, Biomarker, GeneticVariation
umls:C1961102Precursor Cell Lymphoblastic Leukemia-Lymphoma173AlteredExpression, Biomarker, GeneticVariation
umls:C0596263Carcinogenesis7Biomarker
umls:C1458155Breast Neoplasms3Biomarker, PostTranslationalModification
umls:C0014859Esophageal Neoplasms2Biomarker
umls:C0032927Precancerous Conditions2Biomarker
umls:C0001418Adenocarcinoma1Biomarker
umls:C0023903Liver Neoplasms1Biomarker
umls:C0027659Neoplasms, Experimental1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for ABL1
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|nutraceuticalDB00171Adenosine triphosphateSmall molecule
ApprovedDB00619ImatinibSmall molecule
Approved|investigationalDB01254DasatinibSmall molecule
ExperimentalDB03878N-[4-Methyl-3-[[4-(3-Pyridinyl)-2-Pyrimidinyl]Amino]Phenyl]-3-PyridinecarboxamideSmall molecule
Approved|investigationalDB04868NilotinibSmall molecule
InvestigationalDB05184XL228Small molecule
ApprovedDB06616BosutinibSmall molecule
ExperimentalDB078312-{[(6-OXO-1,6-DIHYDROPYRIDIN-3-YL)METHYL]AMINO}-N-[4-PROPYL-3-(TRIFLUOROMETHYL)PHENYL]BENZAMIDESmall molecule
ExperimentalDB080431-[4-(PYRIDIN-4-YLOXY)PHENYL]-3-[3-(TRIFLUOROMETHYL)PHENYL]UREASmall molecule
ExperimentalDB08231MYRISTIC ACIDSmall molecule
ExperimentalDB083396-(2,6-DICHLOROPHENYL)-2-{[3-(HYDROXYMETHYL)PHENYL]AMINO}-8-METHYLPYRIDO[2,3-D]PYRIMIDIN-7(8H)-ONESmall molecule
ExperimentalDB083505-[3-(2-METHOXYPHENYL)-1H-PYRROLO[2,3-B]PYRIDIN-5-YL]-N,N-DIMETHYLPYRIDINE-3-CARBOXAMIDESmall molecule
ExperimentalDB085832-amino-5-[3-(1-ethyl-1H-pyrazol-5-yl)-1H-pyrrolo[2,3-b]pyridin-5-yl]-N,N-dimethylbenzamideSmall molecule
ApprovedDB08896RegorafenibSmall molecule
ApprovedDB08901PonatinibSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ABL1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
MGMAGNESIUM(2+)2g1tAD381
MGMAGNESIUM(2+)2g1tBD381
MGMAGNESIUM(2+)2g1tCD381
MGMAGNESIUM(2+)2g1tDD381
MGMAGNESIUM(2+)2v7aAD381
MGMAGNESIUM(2+)2v7aBD381
ADPADP2g2iAG250 F317 L370
ADPADP2g2iBG250 V256 F317 L370
IIIPeptide ligand (GLU,GLU,ILE,PHE,GLY,GLU,PHE,GLU,ALA,LYS)2g1tBH396 Y449
IIIPeptide ligand (GLU,ILE,PHE,GLY,GLU,PHE,GLU)2g1tCH396 Y449
IIIPeptide ligand (GLU,GLU,ILE,PHE,GLY,GLU,PHE,GLU)2g1tDH396 Y449
627N-[(3E)-5-[(2R)-2-METHOXY-2-PHENYLACETYL]PYRROLO[3,4-C]PYRAZOL-3(5H)-YLIDENE]-4-(4-METHYLPIPERAZIN-1-YL)BENZAMIDE2v7aAL248 G250 F317 R367 L370
627N-[(3E)-5-[(2R)-2-METHOXY-2-PHENYLACETYL]PYRROLO[3,4-C]PYRAZOL-3(5H)-YLIDENE]-4-(4-METHYLPIPERAZIN-1-YL)BENZAMIDE2v7aBL248 G250 F317 R367 L370 D381
112THIOPHOSPHORIC ACID O-((ADENOSYL-PHOSPHO)PHOSPHO)-S-ACETAMIDYL-DIESTER2g1tBL248 G250 Y253 G254 V256 F317 D363 R367 L370 D381
112THIOPHOSPHORIC ACID O-((ADENOSYL-PHOSPHO)PHOSPHO)-S-ACETAMIDYL-DIESTER2g1tCL248 G250 Y253 G254 V256 F317 D363 R367 L370 D381
112THIOPHOSPHORIC ACID O-((ADENOSYL-PHOSPHO)PHOSPHO)-S-ACETAMIDYL-DIESTER2g1tDL248 G250 Y253 V256 F317 D363 R367 L370 D381
112THIOPHOSPHORIC ACID O-((ADENOSYL-PHOSPHO)PHOSPHO)-S-ACETAMIDYL-DIESTER2g2fAL248 G250 Y253 V256 F317 L370
112THIOPHOSPHORIC ACID O-((ADENOSYL-PHOSPHO)PHOSPHO)-S-ACETAMIDYL-DIESTER2g1tAL248 G250 Y253 V256 F317 R367 L370 D381
AGSADENOSINE 5'-[GAMMA-THIO]TRIPHOSPHATE2g2fBL248 V256 F317 R367
4ST1,2,3,4-TETRAHYDROGEN-STAUROSPORINE2hz4BL248 V256 F317 R367 L370 D381
DB8BOSUTINIB3ue4BL248 V256 V299 F317 L370
919DCC-20363qriAL248 V256 V299 F317 L370 D381
919DCC-20363qriBL248 V256 V299 F317 L370 D381
919DCC-20363qrjAL248 V256 V299 F317 L370 D381
919DCC-20363qrjBL248 V256 V299 F317 L370 D381
1N1DASATINIB2gqgAL248 V299 F317 L370
1N1DASATINIB2gqgBL248 V299 F317 L370
DB8BOSUTINIB3ue4AL248 V299 F317 L370
GIN2-{[(6-OXO-1,6-DIHYDROPYRIDIN-3-YL)METHYL]AMINO}-N-[4-PROPYL-3-(TRIFLUOROMETHYL)PHENYL]BENZAMIDE2hz0BL248 V299 F317 L370 V379 D381
GIN2-{[(6-OXO-1,6-DIHYDROPYRIDIN-3-YL)METHYL]AMINO}-N-[4-PROPYL-3-(TRIFLUOROMETHYL)PHENYL]BENZAMIDE2hz0AL248 V299 F317 L370 V379 D381 S385
AXIAXITINIBN-METHYL-2-(3-((E)-2-PYRIDIN-2-YL-VINYL)-1H-INDAZOL-6- YLSULFANYL)-BENZAMIDE4wa9AL248 Y253 F317 L370
AXIAXITINIBN-METHYL-2-(3-((E)-2-PYRIDIN-2-YL-VINYL)-1H-INDAZOL-6- YLSULFANYL)-BENZAMIDE4twpAL248 Y253 F317 L370 D381
VX6CYCLOPROPANECARBOXYLIC ACID {4-[4-(4-METHYL-PIPERAZIN-1-YL)-6-(5-METHYL-2H-PYRAZOL-3-YLAMINO)-PYRIMIDIN-2-YLSULFANYL]-PHENYL}-AMIDE2f4jAL248 Y253 V256 F317 L370 D381
JIN6-(2,6-DICHLOROPHENYL)-2-[(4-FLUORO-3-METHYLPHENYL)AMINO]-8-METHYLPYRIDO[2,3-D]PYRIMIDIN-7(8H)-ONE2hziAL248 Y253 V256 F317 L370 D381
NILNILOTINIB3cs9DL248 Y253 V256 F317 L370 D381
STIIMATINIB2hyyAL248 Y253 V256 V299 F317 L370 D381
STIIMATINIB2hyyBL248 Y253 V256 V299 F317 L370 D381
STIIMATINIB2hyyDL248 Y253 V256 V299 F317 L370 D381
406INNO-4062e2bAL248 Y253 V256 V299 F317 V379 D381
406INNO-4062e2bBL248 Y253 V256 V299 F317 V379 D381
NILNILOTINIB3cs9AL248 Y253 V299 F317 D381
NILNILOTINIB3cs9CL248 Y253 V299 F317 D381
4ST1,2,3,4-TETRAHYDROGEN-STAUROSPORINE2hz4AL302
4ST1,2,3,4-TETRAHYDROGEN-STAUROSPORINE2hz4CL302
IIIPeptide ligand (GLU,ILE,PHE,GLY,GLU,PHE,GLU,ALA)2g1tAR367 H396 Y449
IIIPeptide ligand (ACE,ALA,PRO,SER,TYR,SER,PRO,PRO,PRO,PRO,PRO)3eg1BR89 Q103
9DPDP-9873qrkAV299 D381 G383
AXIAXITINIBN-METHYL-2-(3-((E)-2-PYRIDIN-2-YL-VINYL)-1H-INDAZOL-6- YLSULFANYL)-BENZAMIDE4twpBY253 F317 L370 D381
AXIAXITINIBN-METHYL-2-(3-((E)-2-PYRIDIN-2-YL-VINYL)-1H-INDAZOL-6- YLSULFANYL)-BENZAMIDE4wa9BY253 V256 F317 L370
STIIMATINIB2hyyCY253 V256 V299 F317 L370 D381
JIN6-(2,6-DICHLOROPHENYL)-2-[(4-FLUORO-3-METHYLPHENYL)AMINO]-8-METHYLPYRIDO[2,3-D]PYRIMIDIN-7(8H)-ONE2hziBY253 V256 V299 F317 L370 D381
NILNILOTINIB3cs9BY253 V299 F317 D381
IIIPeptide ligand (GLU,GLU,ILE,PHE,GLY,GLU,PHE)2g2iBY449
IIIPeptide ligand (ACE,ALA,PRO,SER,TYR,SER,PRO,PRO,PRO,PRO,PRO)3eg1BY70
IIIPeptide ligand (ACE,ALA,PRO,SER,TYR,SER,PRO,PRO,PRO,PRO,PRO)2o88AY70 F72 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,PRO,PRO,PRO,LEU,PRO,PRO)4j9dAY70 F72 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,PRO,PRO,PRO,LEU,PRO,PRO)4j9dCY70 F72 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,PRO,PRO,PRO,LEU,PRO,PRO)4j9dEY70 F72 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,SER,PRO,PRO,LEU,PRO,PRO)4j9eAY70 F72 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,SER,PRO,PRO,LEU,PRO,PRO)4j9eEY70 F72 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,PRO,PRO,PRO,LEU,PRO,PRO)4j9fAY70 F72 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,PRO,PRO,PRO,LEU,PRO,PRO)4j9fCY70 F72 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,PRO,PRO,PRO,PRO,PRO,PRO)4j9gAY70 F72 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,PRO,PRO,PRO,PRO,PRO,PRO)4j9gCY70 F72 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,PRO,PRO,PRO,PRO,PRO,PRO)4j9gEY70 F72 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,PRO,PRO,PRO,PRO,PRO,PRO)4j9hAY70 F72 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,PRO,PRO,PRO,PRO,PRO,PRO)4j9hEY70 F72 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,PRO,PRO,PRO,PRO,PRO,PRO)4j9hFY70 F72 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,SER,PRO,PRO,LEU,PRO,PRO)4j9iCY70 F72 S75
IIIPeptide ligand (ACE,ALA,PRO,SER,TYR,SER,PRO,PRO,PRO,PRO,PRO)2o88BY70 S75
IIIPeptide ligand (ACE,ALA,PRO,SER,TYR,SER,PRO,PRO,PRO,PRO,PRO)3eg1AY70 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,SER,PRO,PRO,LEU,PRO,PRO)4j9cAY70 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,SER,PRO,PRO,LEU,PRO,PRO)4j9eCY70 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,PRO,PRO,PRO,LEU,PRO,PRO)4j9fEY70 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,PRO,PRO,PRO,PRO,PRO,PRO)4j9hBY70 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,PRO,PRO,PRO,PRO,PRO,PRO)4j9hCY70 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,PRO,PRO,PRO,PRO,PRO,PRO)4j9hDY70 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,SER,PRO,PRO,LEU,PRO,PRO)4j9iAY70 S75
IIIPeptide ligand (ACE,ALA,PRO,THR,TYR,SER,PRO,PRO,LEU,PRO,PRO)4j9iEY70 S75


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Conservation information for LBS of ABL1
Multiple alignments for P00519 in multiple species
LBSAA sequence# speciesSpecies


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