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 ABCB10
Gene summary
Basic gene Info.Gene symbolABCB10
Gene nameATP-binding cassette, sub-family B (MDR/TAP), member 10
SynonymsEST20237|M-ABC2|MTABC2
CytomapUCSC genome browser: 1q42.13
Type of geneprotein-coding
RefGenesNM_012089.2,
DescriptionABC transporter 10 proteinATP-binding cassette sub-family B member 10, mitochondrialATP-binding cassette transporter 10mitochondrial ATP-binding cassette 2
Modification date20141207
dbXrefs MIM : 605454
HGNC : HGNC
Ensembl : ENSG00000135776
HPRD : 09263
Vega : OTTHUMG00000039471
ProteinUniProt: Q9NRK6
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ABCB10
BioGPS: 23456
PathwayNCI Pathway Interaction Database: ABCB10
KEGG: ABCB10
REACTOME: ABCB10
Pathway Commons: ABCB10
ContextiHOP: ABCB10
ligand binding site mutation search in PubMed: ABCB10
UCL Cancer Institute: ABCB10
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for ABCB10

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D264F262LBRCA1
A503R504HCOAD1
I509P508SSTAD1
I231R232LSTAD1
I509Q511HUCEC1
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 ABCB10
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
A503R504H-1.5996574
I509Q511H-1.2414627
I509P508S-0.77676004
D264F262L-0.51370508
I231R232L-0.31980843
(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 ABCB10 from PDB

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Differential gene expression and gene-gene network for ABCB10
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 ABCB10 and the right PPI network was created from samples without mutations in the LBS of ABCB10. 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 ABCB10
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0009404Colorectal Neoplasms1Biomarker

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

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Pharmacological information for ABCB10
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ABCB10 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ACPADENOSINE 5'-[BETA,GAMMA-METHYLENE]TRIPHOSPHATE4aytAD264 A503 I509
Y01CHOLESTEROL HYDROGEN SUCCINATE4aywAI231
ACPADENOSINE 5'-[BETA,GAMMA-METHYLENE]TRIPHOSPHATE4ayxAI509


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Conservation information for LBS of ABCB10
Multiple alignments for Q9NRK6 in multiple species
LBSAA sequence# speciesSpecies
A227FLCGAAANAIR1Homo sapiens
A227FLCGAAANGIR1Mus musculus
A227VVIGSICTALR1Arabidopsis thaliana
A227VVTGSVCTALR1Oryza sativa subsp. japonica
A227LLIGCAANFGR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A227FFLGSACNFGR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A230GAAANAIRVYL1Homo sapiens
A230GAAANGIRVYL1Mus musculus
A230GSICTALRAWL1Arabidopsis thaliana
A230GSVCTALRAWL1Oryza sativa subsp. japonica
A230GCAANFGRFIL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A230GSACNFGRIIT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A503WFAYPSRPSHM2Arabidopsis thaliana, Oryza sativa subsp. japonica
A503HFAYPARPEVP1Homo sapiens
A503HFTYPARPEVS1Mus musculus
A503SFSYPTRPSVQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A503GFAYPTRPSAS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D264EVAFFDKTRTG2Homo sapiens, Mus musculus
D264EIAFYDVTKTG1Arabidopsis thaliana
D264EIAFFDVTRTG1Oryza sativa subsp. japonica
D264DAEFFDNHKVG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D264DGAFFDFHKHG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D658KILLLDEATSA2Homo sapiens, Mus musculus
D658SVLLLDEATSA1Arabidopsis thaliana
D658RVLLLDEATSA1Oryza sativa subsp. japonica
D658TILILDEATSA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D658AFLILDEATSA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G530LVGPSGSGKST2Homo sapiens, Mus musculus
G530LVGPSGGGKTT2Arabidopsis thaliana, Oryza sativa subsp. japonica
G530IVGPSGRGKST1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G530IVAPSGGGKST1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G532GPSGGGKTTIA2Arabidopsis thaliana, Oryza sativa subsp. japonica
G532GPSGSGKSTVL1Homo sapiens
G532GPSGSGKSTVV1Mus musculus
G532GPSGRGKSTIA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G532APSGGGKSTIS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I231AAANAIRVYLM1Homo sapiens
I231AAANGIRVYLM1Mus musculus
I231SICTALRAWLF1Arabidopsis thaliana
I231SVCTALRAWLF1Oryza sativa subsp. japonica
I231CAANFGRFILL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I231SACNFGRIITL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I509RPEVPIFQDFS1Homo sapiens
I509RPEVSVFQDFS1Mus musculus
I509RPSHMILKGIS1Arabidopsis thaliana
I509RPSHMILKGIT1Oryza sativa subsp. japonica
I509RPSVQIFKNLN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I509RPSASIFDNLS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K533PSGGGKTTIAN2Arabidopsis thaliana, Oryza sativa subsp. japonica
K533PSGSGKSTVLS1Homo sapiens
K533PSGSGKSTVVS1Mus musculus
K533PSGRGKSTIAL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K533PSGGGKSTISQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L235ALRAWLFNSAS2Arabidopsis thaliana, Oryza sativa subsp. japonica
L235AIRVYLMQTSG1Homo sapiens
L235GIRVYLMQSSG1Mus musculus
L235FGRFILLRILS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L235FGRIITLRLLS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q575IGTVSQEPILF1Homo sapiens
Q575IGTVSQEPVLF1Mus musculus
Q575ISIVSQEPILF1Arabidopsis thaliana
Q575VSIVSQEPVLF1Oryza sativa subsp. japonica
Q575IGIVQQEPVLM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q575FGLVGQEPVLF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R170-PERRRLAAAV1Homo sapiens
R170-PERGRLSAAV1Mus musculus
R170-PDAGKLVIGT1Arabidopsis thaliana
R170-HDAGKLVIAT1Oryza sativa subsp. japonica
R170-RDWKLLLTAI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R170GQGWNFFIAGS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R242NSASERVVARL2Arabidopsis thaliana, Oryza sativa subsp. japonica
R242QTSGQRIVNRL1Homo sapiens
R242QSSGQSIVNRL1Mus musculus
R242RILSERVVARL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R242RLLSERIVSRL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S529ALVGPSGSGKS2Homo sapiens, Mus musculus
S529ALVGPSGGGKT2Arabidopsis thaliana, Oryza sativa subsp. japonica
S529CIVGPSGRGKS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S529AIVAPSGGGKS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S531VGPSGSGKSTV2Homo sapiens, Mus musculus
S531VGPSGGGKTTI2Arabidopsis thaliana, Oryza sativa subsp. japonica
S531VGPSGRGKSTI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S531VAPSGGGKSTI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S534SGGGKTTIANL2Arabidopsis thaliana, Oryza sativa subsp. japonica
S534SGSGKSTVLSL1Homo sapiens
S534SGSGKSTVVSL1Mus musculus
S534SGRGKSTIALL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S534SGGGKSTISQL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T535GGGKTTIANLI2Arabidopsis thaliana, Oryza sativa subsp. japonica
T535GSGKSTVLSLL1Homo sapiens
T535GSGKSTVVSLL1Mus musculus
T535GRGKSTIALLL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T535GGGKSTISQLL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y234TALRAWLFNSA2Arabidopsis thaliana, Oryza sativa subsp. japonica
Y234NAIRVYLMQTS1Homo sapiens
Y234NGIRVYLMQSS1Mus musculus
Y234NFGRFILLRIL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y234NFGRIITLRLL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y501DVWFAYPSRPS2Arabidopsis thaliana, Oryza sativa subsp. japonica
Y501NVHFAYPARPE1Homo sapiens
Y501NVHFTYPARPE1Mus musculus
Y501DVSFSYPTRPS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y501NVGFAYPTRPS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)


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