mutLBSgeneDB |
Gene summary for ACMSD |
Gene summary |
Basic gene Info. | Gene symbol | ACMSD |
Gene name | aminocarboxymuconate semialdehyde decarboxylase | |
Synonyms | - | |
Cytomap | UCSC genome browser: 2q21.3 | |
Type of gene | protein-coding | |
RefGenes | NM_138326.2, | |
Description | 2-amino-3-carboxymuconate-6-semialdehyde decarboxylasepicolinate carboxylase | |
Modification date | 20141211 | |
dbXrefs | MIM : 608889 | |
HGNC : HGNC | ||
Ensembl : ENSG00000153086 | ||
HPRD : 12326 | ||
Vega : OTTHUMG00000131711 | ||
Protein | UniProt: Q8TDX5 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ACMSD | |
BioGPS: 130013 | ||
Pathway | NCI Pathway Interaction Database: ACMSD | |
KEGG: ACMSD | ||
REACTOME: ACMSD | ||
Pathway Commons: ACMSD | ||
Context | iHOP: ACMSD | |
ligand binding site mutation search in PubMed: ACMSD | ||
UCL Cancer Institute: ACMSD | ||
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 | GO:0046874 | quinolinate metabolic process | 12140278 |
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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 |
LBS | AAchange of nsSNV | Cancer type | # samples | F46 | F46V | STAD | 1 | W191 | P190H | UCEC | 1 | W191 | P190S | UCEC | 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 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. |
LBS | AAchange of nsSNV | Relative stability change | W191 | P190H | -1.0056748 | W191 | P190S | -0.99545655 | F46 | F46V | -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) |
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Phenotype information for ACMSD |
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 ACMSD |
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 ACMSD go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | PDC | DIPICOLINIC ACID | 4ih3 | D | F46 W191 | 13P | 1,3-DIHYDROXYACETONEPHOSPHATE | 2wm1 | A | W191 | PDC | DIPICOLINIC ACID | 4ih3 | A | W191 | PDC | DIPICOLINIC ACID | 4ih3 | B | W191 | PDC | DIPICOLINIC ACID | 4ih3 | C | W191 | PDC | DIPICOLINIC ACID | 4ih3 | E | W191 | PDC | DIPICOLINIC ACID | 4ih3 | F | W191 |
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Conservation information for LBS of ACMSD |
Multiple alignments for Q8TDX5 in multiple species |
LBS | AA sequence | # species | Species | D291 | VILGTDYPFPL | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | D291 | VMLGTDYPFPL | 1 | Mus musculus | F294 | GTDYPFPLGEL | 2 | Homo sapiens, Bos taurus | F294 | GTDYPFPLGEQ | 2 | Mus musculus, Rattus norvegicus | F46 | KDGKVFRVVRE | 1 | Homo sapiens | F46 | KDGKLFRVIQQ | 1 | Mus musculus | F46 | KDGKVFRVIQQ | 1 | Rattus norvegicus | F46 | KDGKVFRVVQE | 1 | Bos taurus | H174 | CSLFVHPWDMQ | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | H224 | KVCFAHGGGAF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H224 | KVCFAHGGGSF | 1 | Bos taurus | H6 | MKIDIHTHILP | 3 | Mus musculus, Rattus norvegicus, Bos taurus | H6 | MKIDIHSHILP | 1 | Homo sapiens | H8 | IDIHTHILPKE | 2 | Mus musculus, Rattus norvegicus | H8 | IDIHSHILPKE | 1 | Homo sapiens | H8 | IDIHTHILPRE | 1 | Bos taurus | L296 | DYPFPLGELEP | 2 | Homo sapiens, Bos taurus | L296 | DYPFPLGEQEP | 2 | Mus musculus, Rattus norvegicus | M195 | PWLVGMPSETT | 2 | Mus musculus, Rattus norvegicus | M195 | PWLVGMPAETT | 1 | Homo sapiens | M195 | PWLIGMPAETT | 1 | Bos taurus | P77 | ALSTVPVMFSY | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | R47 | DGKVFRVVREN | 1 | Homo sapiens | R47 | DGKLFRVIQQN | 1 | Mus musculus | R47 | DGKVFRVIQQN | 1 | Rattus norvegicus | R47 | DGKVFRVVQEN | 1 | Bos taurus | V76 | QALSTVPVMFS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V78 | LSTVPVMFSYW | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | W188 | RMAKYWLPWLV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W188 | RMAKYWFPWLI | 1 | Bos taurus | W191 | KYWLPWLVGMP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W191 | KYWFPWLIGMP | 1 | Bos taurus |
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