| Note | |
| | |
| Entity | t(7;12)(q36;p13) - associated infant acute myeloid leukemia (AML) |
| Prognosis | Prognosis probably poor: median survival is 13 months. |
| Cytogenetics | t(7;12)(q36;p13), but not always visible by chromosome banding; may also be misdiagnosed as del(12)(p13). |
| Hybrid/Mutated Gene | 5' HLXB9 _ 3' ETV6 |
| |  |
| |
| Fig. 3. Schematic representation of the HLXB9 and ETV6 proteins and the putative HLXB9-ETV6 chimeric protein resulting from the t(7;12)(q36;p13). Arrow, the observed breakpoints. nt numbers (cDNA level) are given above each protein, and amino acid numbers are given in bold type below each protein. |
| |
| Abnormal Protein | N-term HLXB9, including its polyalanine repeat, is fused to a large C-term part of the ETV6 protein including its HLH domain and ETS domain; the homeobox domain of HLXB9 is not retained in the fusion protein; the reciprocal transcript is not expressed. |
| | |
| Fusion of the homeobox gene HLXB9 and the ETV6 gene in infant acute myeloid leukemias with the t(7;12)(q36;p13). |
| Beverloo HB, Panagopoulos I, Isaksson M, van Wering E, van Drunen E, de Klein A, Johansson B, Slater R |
| Cancer research. 2001 ; 61 (14) : 5374-5377. |
| PMID 11454678 |
| |
| A novel human homeobox gene distantly related to proboscipedia is expressed in lymphoid and pancreatic tissues. |
| Harrison KA, Druey KM, Deguchi Y, Tuscano JM, Kehrl JH |
| The Journal of biological chemistry. 1994 ; 269 (31) : 19968-19975. |
| PMID 7914194 |
| |
| A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. |
| Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler P, Strachan T |
| Nature genetics. 1998 ; 20 (4) : 358-361. |
| PMID 9843207 |
| |
| Nomenclature |
|---|
| HGNC (Hugo) | MNX1 4979 |
| Cards |
|---|
| Atlas | HLXB9ID393 |
| Entrez_Gene (NCBI) | MNX1 3110 motor neuron and pancreas homeobox 1 |
| Aliases | HB9; HLXB9; HOXHB9; SCRA1 |
| GeneCards (Weizmann) | MNX1 |
| Ensembl hg19 (Hinxton) | ENSG00000130675 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000130675 [Gene_View] ENSG00000130675 [Sequence] chr7:157004853-157010653 [Contig_View] MNX1 [Vega] |
| ICGC DataPortal | ENSG00000130675 |
| TCGA cBioPortal | MNX1 |
| AceView (NCBI) | MNX1 |
| Genatlas (Paris) | MNX1 |
| WikiGenes | 3110 |
| SOURCE (Princeton) | MNX1 |
| Genetics Home Reference (NIH) | MNX1 |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | MNX1 - chr7:157004853-157010653 - 7q36.3 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | MNX1 - 7q36.3 [Description] (hg19-Feb_2009) |
| Ensembl | MNX1 - 7q36.3 [CytoView hg19] MNX1 - 7q36.3 [CytoView hg38] |
| Mapping of homologs : NCBI | MNX1 [Mapview hg19] MNX1 [Mapview hg38] |
| OMIM | 142994 176450 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AF107457 AY927457 AY927459 AY927460 AY927461 |
| RefSeq transcript (Entrez) | NM_001165255 NM_005515 |
| RefSeq genomic (Entrez) | |
| Consensus coding sequences : CCDS (NCBI) | MNX1 |
| Cluster EST : Unigene | Hs.37035 [ NCBI ] |
| CGAP (NCI) | Hs.37035 |
| Alternative Splicing Gallery | ENSG00000130675 |
| Gene Expression | MNX1 [ NCBI-GEO ] MNX1 [ EBI - ARRAY_EXPRESS ]
MNX1 [ SEEK ] MNX1 [ MEM ] |
| Gene Expression Viewer (FireBrowse) | MNX1 [ Firebrowse - Broad ] |
| SOURCE (Princeton) | Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60] |
| Genevestigator | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 3110 |
| GTEX Portal (Tissue expression) | MNX1 |
| Human Protein Atlas | ENSG00000130675-MNX1 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | P50219 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | P50219 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | P50219 |
| Splice isoforms : SwissVar | P50219 |
| PhosPhoSitePlus | P50219 |
| Domaine pattern : Prosite (Expaxy) | HOMEOBOX_1 (PS00027) HOMEOBOX_2 (PS50071) |
| Domains : Interpro (EBI) | Homeobox-like_sf Homeobox_CS Homeobox_dom Homeobox_metazoa |
| Domain families : Pfam (Sanger) | Homeobox (PF00046) |
| Domain families : Pfam (NCBI) | pfam00046 |
| Domain families : Smart (EMBL) | HOX (SM00389) |
| Conserved Domain (NCBI) | MNX1 |
| DMDM Disease mutations | 3110 |
| Blocks (Seattle) | MNX1 |
| Superfamily | P50219 |
| Human Protein Atlas [tissue] | ENSG00000130675-MNX1 [tissue] |
| Peptide Atlas | P50219 |
| HPRD | 00874 |
| IPI | IPI00030703 IPI00925104 IPI01014673 IPI00924644 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | P50219 |
| IntAct (EBI) | P50219 |
| FunCoup | ENSG00000130675 |
| BioGRID | MNX1 |
| STRING (EMBL) | MNX1 |
| ZODIAC | MNX1 |
| Ontologies - Pathways |
|---|
| QuickGO | P50219 |
| Ontology : AmiGO | RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA-binding transcription factor activity nucleus nucleus nucleolus cytosol transcription, DNA-templated regulation of transcription by RNA polymerase II humoral immune response anatomical structure morphogenesis spinal cord motor neuron cell fate specification endocrine pancreas development sequence-specific DNA binding neuron projection morphogenesis |
| Ontology : EGO-EBI | RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA-binding transcription factor activity nucleus nucleus nucleolus cytosol transcription, DNA-templated regulation of transcription by RNA polymerase II humoral immune response anatomical structure morphogenesis spinal cord motor neuron cell fate specification endocrine pancreas development sequence-specific DNA binding neuron projection morphogenesis |
| Pathways : KEGG | Maturity onset diabetes of the young |
| NDEx Network | MNX1 |
| Atlas of Cancer Signalling Network | MNX1 |
| Wikipedia pathways | MNX1 |
| Orthology - Evolution |
|---|
| OrthoDB | 3110 |
| GeneTree (enSembl) | ENSG00000130675 |
| Phylogenetic Trees/Animal Genes : TreeFam | MNX1 |
| HOVERGEN | P50219 |
| HOGENOM | P50219 |
| Homologs : HomoloGene | MNX1 |
| Homology/Alignments : Family Browser (UCSC) | MNX1 |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | MNX1/ETV6 [7q36.3/12p13.2] |
| Fusion : Mitelman | MYB/MNX1 [6q23.3/7q36.3] [t(6;7)(q23;q36)] |
| Fusion : TICdb | MNX1 [7q36.3] - ETV6 [12p13.2] |
| Fusion : Quiver | MNX1 |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | MNX1 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | MNX1 |
| dbVar | MNX1 |
| ClinVar | MNX1 |
| 1000_Genomes | MNX1 |
| Exome Variant Server | MNX1 |
| ExAC (Exome Aggregation Consortium) | ENSG00000130675 |
| GNOMAD Browser | ENSG00000130675 |
| Varsome Browser | MNX1 |
| Genetic variants : HAPMAP | 3110 |
| Genomic Variants (DGV) | MNX1 [DGVbeta] |
| DECIPHER | MNX1 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | MNX1 |
| Mutations |
|---|
| ICGC Data Portal | MNX1 |
| TCGA Data Portal | MNX1 |
| Broad Tumor Portal | MNX1 |
| OASIS Portal | MNX1 [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | MNX1 [overview] [genome browser] [tissue] [distribution] |
| Mutations and Diseases : HGMD | MNX1 |
| LOVD (Leiden Open Variation Database) | Whole genome datasets |
| LOVD (Leiden Open Variation Database) | LOVD - Leiden Open Variation Database |
| LOVD (Leiden Open Variation Database) | LOVD 3.0 shared installation |
| BioMuta | search MNX1 |
| DgiDB (Drug Gene Interaction Database) | MNX1 |
| DoCM (Curated mutations) | MNX1 (select the gene name) |
| CIViC (Clinical Interpretations of Variants in Cancer) | MNX1 (select a term) |
| intoGen | MNX1 |
| NCG5 (London) | MNX1 |
| Cancer3D | MNX1(select the gene name) |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 142994 176450 |
| Orphanet | 1082 |
| DisGeNET | MNX1 |
| Medgen | MNX1 |
| Genetic Testing Registry | MNX1
|
| NextProt | P50219 [Medical] |
| TSGene | 3110 |
| GENETests | MNX1 |
| Target Validation | MNX1 |
| Huge Navigator |
MNX1 [HugePedia] |
| snp3D : Map Gene to Disease | 3110 |
| BioCentury BCIQ | MNX1 |
| ClinGen | MNX1 (curated) |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 3110 |
| Chemical/Pharm GKB Gene | PA162396041 |
| Clinical trial | MNX1 |
| Miscellaneous |
|---|
| canSAR (ICR) | MNX1 (select the gene name) |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 41 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | MNX1 |
| EVEX | MNX1 |
| GoPubMed | MNX1 |
| iHOP | MNX1 |
