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 GABARAPL1

Gene summary

Basic gene Info.	Gene symbol	GABARAPL1
	Gene name	GABA(A) receptor-associated protein like 1
	Synonyms	APG8-LIKE\|APG8L\|ATG8\|ATG8B\|ATG8L\|GEC1
	Cytomap	UCSC genome browser: 12p13.2
	Type of gene	protein-coding
	RefGenes	NM_031412.2,
	Description	GABA(A) receptor-associated protein-like 1GABARAPL1-aGEC-1early estrogen-regulated proteingamma-aminobutyric acid receptor-associated protein-like 1glandular epithelial cell protein 1
	Modification date	20141207
dbXrefs	MIM : 607420
	HGNC : HGNC
	Ensembl : ENSG00000139112
	HPRD : 07601
	Vega : OTTHUMG00000168411
Protein	UniProt: Q9H0R8 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_GABARAPL1
	BioGPS: 23710
Pathway	NCI Pathway Interaction Database: GABARAPL1
	KEGG: GABARAPL1
	REACTOME: GABARAPL1
	Pathway Commons: GABARAPL1
Context	iHOP: GABARAPL1
	ligand binding site mutation search in PubMed: GABARAPL1
	UCL Cancer Institute: GABARAPL1
Assigned class in mutLBSgeneDB	C: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

GO ID

GO Term

PubMed ID

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Ligand binding site mutations for GABARAPL1

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
F104	D102Y	LUAD	1
F104	L105M	STAD	1

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 GABARAPL1

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.

LBS	AAchange of nsSNV	Relative stability change
F104	L105M	-1.3796591
F104	D102Y	-0.9487654

(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 GABARAPL1 from PDB

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Differential gene expression and gene-gene network for GABARAPL1

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 GABARAPL1 and the right PPI network was created from samples without mutations in the LBS of GABARAPL1. 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 GABARAPL1

Gene level disease information (DisGeNet)

Disease ID

Disease name

# PubMed

Association type

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for GABARAPL1

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.

Drug information targeting mutLBSgene (Approved drugs only)

Drug status

DrugBank ID

Name

Type

Drug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of GABARAPL1 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
III		Peptide ligand (GLY,ALA,MET,GLY,SER,ALA,SER,SER,GLU,ASP,TYR,ILE,ILE,ILE,LEU,PRO,GLU,SER)	2l8j	A	F104

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Conservation information for LBS of GABARAPL1

Multiple alignments for Q9H0R8 in multiple species

LBS	AA sequence	# species	Species
E12	EDHPFEYRKKE	5	Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis
E12	SEYPFEKRKAE	2	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E12	DEHPFEKRKAE	2	Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
E12	SEFPFEKRKAE	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
E12	HEHPLEKRQAE	1	Arabidopsis thaliana
E12	DDFSFEKRKTE	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E12	EENNFEKRRAE	1	Caenorhabditis elegans
E17	EYRKKEGEKIR	5	Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis
E17	EKRKAEAERIR	2	Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
E17	EKRKAESERIV	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
E17	EKRKAESERIC	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
E17	EKRKAESERIA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E17	EKRQAEAARIR	1	Arabidopsis thaliana
E17	EKRKTESQRIR	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E17	EKRRAEGDKIR	1	Caenorhabditis elegans
F104	HEEDYFLYVAY	5	Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis
F104	KDEDGFLYITY	2	Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
F104	KDKDGFLYVSY	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
F104	KDKDGFLYVKY	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
F104	KDKDGFLYVTY	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F104	KDEDGFLYMSY	1	Arabidopsis thaliana
F104	KSEDGFLYITY	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F104	HEEDLFLYIAY	1	Caenorhabditis elegans
I21	KEGEKIRKKYP	5	Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis
I21	AESERIVQKFH	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
I21	AESERICSQFE	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
I21	AESERIADRFK	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I21	AEAARIREKYP	1	Arabidopsis thaliana
I21	TESQRIREKYP	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I21	AEAERIRQKYT	1	Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
I21	AEAERIRQKYS	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
I21	AEGDKIRRKYP	1	Caenorhabditis elegans
K16	FEYRKKEGEKI	5	Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis
K16	FEKRKAESERI	3	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K16	FEKRKAEAERI	2	Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
K16	LEKRQAEAARI	1	Arabidopsis thaliana
K16	FEKRKTESQRI	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K16	FEKRRAEGDKI	1	Caenorhabditis elegans
K48	DLDKRKYLVPS	5	Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis
K48	TIDKKKYLVPA	2	Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
K48	DIDKRKYLVPG	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
K48	EVDRRKYLVPA	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
K48	EIDKRKYLVPA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K48	DIDRKKYLVPA	1	Arabidopsis thaliana
K48	AIDKKKYLVPS	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K48	DLDKKKYLVPS	1	Caenorhabditis elegans
L50	DKRKYLVPSDL	5	Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis
L50	DKKKYLVPSDL	2	Schizosaccharomyces pombe (strain 972 / ATCC 24843), Caenorhabditis elegans
L50	DKKKYLVPADL	2	Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
L50	DKRKYLVPGDL	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
L50	DRRKYLVPADL	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
L50	DKRKYLVPADL	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L50	DRKKYLVPADL	1	Arabidopsis thaliana
P52	RKYLVPSDLTV	5	Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis
P52	KKYLVPADLTV	3	Arabidopsis thaliana, Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
P52	RKYLVPADLTV	2	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P52	KKYLVPSDLTV	2	Schizosaccharomyces pombe (strain 972 / ATCC 24843), Caenorhabditis elegans
P52	RKYLVPGDLTV	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R28	KKYPDRVPVIV	5	Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis
R28	QKFHNRIPVIC	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R28	SQFENRVPVIC	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R28	DRFKNRIPVIC	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R28	EKYPDRIPVIV	1	Arabidopsis thaliana
R28	EKYPDRIPVIC	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R28	QKYTDRIPVIC	1	Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
R28	QKYSDRIPVIC	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
R28	RKYPDRIPVIV	1	Caenorhabditis elegans
V51	KRKYLVPSDLT	5	Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis
V51	KKKYLVPSDLT	2	Schizosaccharomyces pombe (strain 972 / ATCC 24843), Caenorhabditis elegans
V51	KKKYLVPADLT	2	Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
V51	KRKYLVPGDLT	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
V51	RRKYLVPADLT	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
V51	KRKYLVPADLT	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V51	RKKYLVPADLT	1	Arabidopsis thaliana
Y25	KIRKKYPDRVP	5	Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis
Y25	RIREKYPDRIP	2	Arabidopsis thaliana, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y25	RIVQKFHNRIP	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
Y25	RICSQFENRVP	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
Y25	RIADRFKNRIP	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y25	RIRQKYTDRIP	1	Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
Y25	RIRQKYSDRIP	1	Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
Y25	KIRRKYPDRIP	1	Caenorhabditis elegans
Y49	LDKRKYLVPSD	5	Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis
Y49	IDKKKYLVPAD	2	Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958), Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
Y49	IDKRKYLVPGD	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
Y49	VDRRKYLVPAD	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
Y49	IDKRKYLVPAD	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y49	IDRKKYLVPAD	1	Arabidopsis thaliana
Y49	IDKKKYLVPSD	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y49	LDKKKYLVPSD	1	Caenorhabditis elegans