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 ACMSD
Gene summary
Basic gene Info.Gene symbolACMSD
Gene nameaminocarboxymuconate semialdehyde decarboxylase
Synonyms-
CytomapUCSC genome browser: 2q21.3
Type of geneprotein-coding
RefGenesNM_138326.2,
Description2-amino-3-carboxymuconate-6-semialdehyde decarboxylasepicolinate carboxylase
Modification date20141211
dbXrefs MIM : 608889
HGNC : HGNC
Ensembl : ENSG00000153086
HPRD : 12326
Vega : OTTHUMG00000131711
ProteinUniProt: Q8TDX5
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ACMSD
BioGPS: 130013
PathwayNCI Pathway Interaction Database: ACMSD
KEGG: ACMSD
REACTOME: ACMSD
Pathway Commons: ACMSD
ContextiHOP: ACMSD
ligand binding site mutation search in PubMed: ACMSD
UCL Cancer Institute: ACMSD
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
GO:0046874quinolinate metabolic process12140278


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Ligand binding site mutations for ACMSD
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
F46F46VSTAD1
W191P190HUCEC1
W191P190SUCEC1
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 ACMSD
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
W191P190H-1.0056748
W191P190S-0.99545655
F46F46V-0.94475367
(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 ACMSD from PDB

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

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

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Pharmacological information for ACMSD
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 ACMSD go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
PDCDIPICOLINIC ACID4ih3DF46 W191
13P1,3-DIHYDROXYACETONEPHOSPHATE2wm1AW191
PDCDIPICOLINIC ACID4ih3AW191
PDCDIPICOLINIC ACID4ih3BW191
PDCDIPICOLINIC ACID4ih3CW191
PDCDIPICOLINIC ACID4ih3EW191
PDCDIPICOLINIC ACID4ih3FW191


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Conservation information for LBS of ACMSD
Multiple alignments for Q8TDX5 in multiple species
LBSAA sequence# speciesSpecies
D291VILGTDYPFPL3Homo sapiens, Rattus norvegicus, Bos taurus
D291VMLGTDYPFPL1Mus musculus
F294GTDYPFPLGEL2Homo sapiens, Bos taurus
F294GTDYPFPLGEQ2Mus musculus, Rattus norvegicus
F46KDGKVFRVVRE1Homo sapiens
F46KDGKLFRVIQQ1Mus musculus
F46KDGKVFRVIQQ1Rattus norvegicus
F46KDGKVFRVVQE1Bos taurus
H174CSLFVHPWDMQ4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
H224KVCFAHGGGAF3Homo sapiens, Mus musculus, Rattus norvegicus
H224KVCFAHGGGSF1Bos taurus
H6MKIDIHTHILP3Mus musculus, Rattus norvegicus, Bos taurus
H6MKIDIHSHILP1Homo sapiens
H8IDIHTHILPKE2Mus musculus, Rattus norvegicus
H8IDIHSHILPKE1Homo sapiens
H8IDIHTHILPRE1Bos taurus
L296DYPFPLGELEP2Homo sapiens, Bos taurus
L296DYPFPLGEQEP2Mus musculus, Rattus norvegicus
M195PWLVGMPSETT2Mus musculus, Rattus norvegicus
M195PWLVGMPAETT1Homo sapiens
M195PWLIGMPAETT1Bos taurus
P77ALSTVPVMFSY4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
R47DGKVFRVVREN1Homo sapiens
R47DGKLFRVIQQN1Mus musculus
R47DGKVFRVIQQN1Rattus norvegicus
R47DGKVFRVVQEN1Bos taurus
V76QALSTVPVMFS4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
V78LSTVPVMFSYW4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
W188RMAKYWLPWLV3Homo sapiens, Mus musculus, Rattus norvegicus
W188RMAKYWFPWLI1Bos taurus
W191KYWLPWLVGMP3Homo sapiens, Mus musculus, Rattus norvegicus
W191KYWFPWLIGMP1Bos taurus


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