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mutLBSgeneDB |
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| Gene summary for FHIT |
 Gene summary |
| Basic gene Info. | Gene symbol | FHIT |
| Gene name | fragile histidine triad | |
| Synonyms | AP3Aase|FRA3B | |
| Cytomap | UCSC genome browser: 3p14.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001166243.1, NM_002012.2, | |
| Description | AP3A hydrolasebis(5'-adenosyl)-triphosphatasediadenosine 5',5'''-P1,P3-triphosphate hydrolasedinucleosidetriphosphatasetumor suppressor protein | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 601153 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000189283 | ||
| HPRD : 03096 | ||
| Vega : OTTHUMG00000158591 | ||
| Protein | UniProt: P49789 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_FHIT | |
| BioGPS: 2272 | ||
| Pathway | NCI Pathway Interaction Database: FHIT | |
| KEGG: FHIT | ||
| REACTOME: FHIT | ||
| Pathway Commons: FHIT | ||
| Context | iHOP: FHIT | |
| ligand binding site mutation search in PubMed: FHIT | ||
| UCL Cancer Institute: FHIT | ||
| 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:0006163 | purine nucleotide metabolic process | 9323207 |
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| Ligand binding site mutations for FHIT |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H96,H98 | V97I | COAD | 1 | H96 | V95L | LUAD | 1 | L37 | V38A | PRAD | 1 | R28 | R28G | STAD | 1 | L25 | A24T | 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 FHIT |
| 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 |
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| 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 | L25 | A24T | -1.5122714 | R28 | R28G | -1.4004118 | L37 | V38A | -1.0391678 | H96 | V95L | -0.77503541 | H98 | V97I | -0.56439619 | H96 | V97I | -0.56439619 |
| (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 FHIT from PDB |
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| Differential gene expression and gene-gene network for FHIT |
| 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 FHIT |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0007097 | Carcinoma | 69 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0024121 | Lung Neoplasms | 25 | AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification |
| umls:C0007131 | Carcinoma, Non-Small-Cell Lung | 23 | Biomarker |
| umls:C0038356 | Stomach Neoplasms | 5 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0033578 | Prostatic Neoplasms | 4 | Biomarker, GeneticVariation |
| umls:C0023903 | Liver Neoplasms | 3 | Biomarker |
| umls:C0025500 | Mesothelioma | 2 | AlteredExpression, Biomarker |
| umls:C0236733 | Amphetamine-Related Disorders | 1 | Biomarker |
| umls:C0236969 | Substance-Related Disorders | 1 | Biomarker |
| umls:C0042076 | Urologic Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for FHIT |
| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB02373 | Adenosine Monotungstate | Small molecule |  |
| Experimental | DB04173 | Fructose | Small molecule |  |
| Experimental | DB04389 | Ado-P-Ch2-P-Ps-Ado | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of FHIT go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | AP2 | ADENOSINE 5'-METHYLENEDIPHOSPHATE | 5fit | A | L25 R28 L37 H96 H98 | AMW | ADENOSINE MONOTUNGSTATE | 6fit | A | L25 R28 L37 H96 H98 | A | ADENOSINE-5'-MONOPHOSPHATE | 3fit | A | L37 | IB2 | ADO-P-CH2-P-PS-ADO | 1fhi | A | L37 H96 H98 | IB2 | ADO-P-CH2-P-PS-ADO | 2fhi | A | L37 H98 |
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| Conservation information for LBS of FHIT |
| Multiple alignments for P49789 in multiple species |
| LBS | AA sequence | # species | Species | F5 | -MSFRFGQHLI | 3 | Homo sapiens, Bos taurus, Mus musculus | F5 | NKPIYFSKFLV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F5 | PKQLYFSKFPV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | F5 | -MSFKFGQHLI | 1 | Rattus norvegicus | F73 | VVEKHFQGTSI | 2 | Mus musculus, Rattus norvegicus | F73 | VVEKHFHGTSL | 1 | Homo sapiens | F73 | FIKWQYKADSI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F73 | VIEKVFSASAS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | F73 | VVEKHFQGTSL | 1 | Bos taurus | F80 | GTSLTFSMQDG | 2 | Homo sapiens, Bos taurus | F80 | GTSITFSMQDG | 2 | Mus musculus, Rattus norvegicus | F80 | ADSINVAIQDG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F80 | ASASNIGIQDG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G89 | DGPEAGQTVKH | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | G89 | DGPEAGQSVPH | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G89 | DGVDAGQTVPH | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H35 | PVVPGHVLVCP | 3 | Homo sapiens, Bos taurus, Mus musculus | H35 | PIVPGHVLIVP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H35 | PILPGHVLVIP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H35 | PVVPGHVLMCP | 1 | Rattus norvegicus | H72 | TVVEKHFQGTS | 3 | Bos taurus, Mus musculus, Rattus norvegicus | H72 | TVVEKHFHGTS | 1 | Homo sapiens | H72 | RFIKWQYKADS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H72 | QVIEKVFSASA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H74 | VEKHFQGTSIT | 2 | Mus musculus, Rattus norvegicus | H74 | VEKHFHGTSLT | 1 | Homo sapiens | H74 | IKWQYKADSIN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H74 | IEKVFSASASN | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H74 | VEKHFQGTSLT | 1 | Bos taurus | H8 | FRFGQHLIKPS | 3 | Homo sapiens, Bos taurus, Mus musculus | H8 | IYFSKFLVTEQ | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H8 | LYFSKFPVGSQ | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H8 | FKFGQHLIKPS | 1 | Rattus norvegicus | H96 | TVKHVHVHVLP | 2 | Homo sapiens, Mus musculus | H96 | TVKHVHVHILP | 2 | Bos taurus, Rattus norvegicus | H96 | SVPHLHTHIIP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H96 | TVPHVHVHIIP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H98 | KHVHVHVLPRK | 2 | Homo sapiens, Mus musculus | H98 | KHVHVHILPRK | 2 | Bos taurus, Rattus norvegicus | H98 | PHLHTHIIPRY | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H98 | PHVHVHIIPRK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | I10 | FGQHLIKPSVV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I10 | FSKFLVTEQV- | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I10 | FSKFPVGSQV- | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K29 | ALVNRKPVVPG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K29 | ALVNLKPIVPG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K29 | AFVNLKPILPG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L100 | VHVHVLPRKAG | 2 | Homo sapiens, Mus musculus | L100 | LHTHIIPRYKI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L100 | VHVHIIPRKKA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L100 | VHVHILPRKAG | 1 | Bos taurus | L100 | VHVHILPRKSG | 1 | Rattus norvegicus | L25 | ELSFALVNRKP | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L25 | KYTYALVNLKP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L25 | KLSAAFVNLKP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L37 | VPGHVLVCPLR | 3 | Homo sapiens, Bos taurus, Mus musculus | L37 | VPGHVLIVPLR | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L37 | LPGHVLVIPQR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L37 | VPGHVLMCPLR | 1 | Rattus norvegicus | N27 | SFALVNRKPVV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N27 | TYALVNLKPIV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N27 | SAAFVNLKPIL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Q83 | LTFSMQDGPEA | 2 | Homo sapiens, Bos taurus | Q83 | ITFSMQDGPEA | 2 | Mus musculus, Rattus norvegicus | Q83 | INVAIQDGPEA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Q83 | SNIGIQDGVDA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Q90 | GPEAGQTVKHV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Q90 | GPEAGQSVPHL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Q90 | GVDAGQTVPHV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R102 | VHVLPRKAGDF | 2 | Homo sapiens, Mus musculus | R102 | THIIPRYKIN- | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R102 | VHIIPRKKADF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R102 | VHILPRKAGDF | 1 | Bos taurus | R102 | VHILPRKSGDF | 1 | Rattus norvegicus | R28 | FALVNRKPVVP | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R28 | YALVNLKPIVP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R28 | AAFVNLKPILP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S81 | TSLTFSMQDGP | 2 | Homo sapiens, Bos taurus | S81 | TSITFSMQDGP | 2 | Mus musculus, Rattus norvegicus | S81 | DSINVAIQDGP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S81 | SASNIGIQDGV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T79 | QGTSITFSMQD | 2 | Mus musculus, Rattus norvegicus | T79 | HGTSLTFSMQD | 1 | Homo sapiens | T79 | KADSINVAIQD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T79 | SASASNIGIQD | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T79 | QGTSLTFSMQD | 1 | Bos taurus | T91 | PEAGQTVKHVH | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | T91 | PEAGQSVPHLH | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T91 | VDAGQTVPHVH | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V26 | LSFALVNRKPV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | V26 | YTYALVNLKPI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V26 | LSAAFVNLKPI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V92 | EAGQTVKHVHV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | V92 | EAGQSVPHLHT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V92 | DAGQTVPHVHV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) |
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