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| # | Reference Title | Reference Citation |
| 1. | Wiskott-Aldrich syndrome protein is needed for vaccinia virus pathogenesis. | null |
| 2. | Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. | Derry JM, etal., Cell. 1994 Aug 26;78(4):635-44. |
| 3. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 4. | Reduced type I interferon production by dendritic cells and weakened antiviral immunity in patients with Wiskott-Aldrich syndrome protein deficiency. | Lang PA, etal., J Allergy Clin Immunol. 2013 Mar;131(3):815-24. doi: 10.1016/j.jaci.2012.08.050. Epub 2012 Nov 6. |
| 5. | Wiskott-Aldrich syndrome protein may be critical for CD8+ T cell function following MCMV infection. | Li S, etal., Cell Immunol. 2019 Apr;338:43-50. doi: 10.1016/j.cellimm.2019.03.004. Epub 2019 Mar 27. |
| 6. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 7. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 8. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 9. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 10. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 11. | Phosphorylation of WASP by the Cdc42-associated kinase ACK1: dual hydroxyamino acid specificity in a tyrosine kinase. | Yokoyama N, etal., J Biol Chem. 2005 Dec 23;280(51):42219-26. Epub 2005 Oct 28. |
| PMID:8625410 | PMID:8892607 | PMID:10724160 | PMID:11070165 | PMID:12147689 | PMID:12431372 | PMID:12477932 | PMID:12769847 | PMID:17086175 | PMID:18650809 | PMID:19144319 | PMID:19798448 |
| PMID:20458337 | PMID:20574068 | PMID:22804504 | PMID:23793062 | PMID:29925947 |
| Was (Rattus norvegicus - Norway rat) |
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| WAS (Homo sapiens - human) |
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| Was (Mus musculus - house mouse) |
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| Was (Chinchilla lanigera - long-tailed chinchilla) |
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| WAS (Pan paniscus - bonobo/pygmy chimpanzee) |
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| WAS (Canis lupus familiaris - dog) |
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| Was (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| WAS (Sus scrofa - pig) |
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| WAS (Chlorocebus sabaeus - green monkey) |
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| Was (Heterocephalus glaber - naked mole-rat) |
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| Was (Rattus rattus - black rat) |
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Variants in Was
17 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| Suv39h1 |
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| AW534613 |
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| Suv39h1 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 163 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 138 | 81 | 92 | 31 | 15 | 15 |
| RefSeq Transcripts | NM_001398747 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| GenBank Nucleotide | BC158677 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| CH474078 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000051439 ⟹ ENSRNOP00000050978 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000073289 ⟹ ENSRNOP00000066881 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| RefSeq Acc Id: | NM_001398747 ⟹ NP_001385676 | ||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Protein RefSeqs | NP_001385676 | (Get FASTA) | NCBI Sequence Viewer |
| GenBank Protein | AAI58678 | (Get FASTA) | NCBI Sequence Viewer |
| EDL83802 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL83803 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000050978.5 | ||
| ENSRNOP00000066881 | |||
| ENSRNOP00000066881.2 |
| Ensembl Acc Id: | ENSRNOP00000066881 ⟸ ENSRNOT00000073289 |
| Ensembl Acc Id: | ENSRNOP00000050978 ⟸ ENSRNOT00000051439 |
| RefSeq Acc Id: | NP_001385676 ⟸ NM_001398747 |
| - UniProtKB: | B0BN43 (UniProtKB/TrEMBL), M0RBE8 (UniProtKB/TrEMBL) |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13701736 | ||||||||
| Promoter ID: | EPDNEW_R12256 | ||||||||
| Type: | initiation region | ||||||||
| Name: | Was_1 | ||||||||
| Description: | Wiskott-Aldrich syndrome | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
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| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1563567 | AgrOrtholog |
| BioCyc Gene | G2FUF-2945 | BioCyc |
| Ensembl Genes | ENSRNOG00000031058 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000051439.6 | UniProtKB/TrEMBL |
| ENSRNOT00000073289 | ENTREZGENE | |
| ENSRNOT00000073289.5 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 2.30.29.30 | UniProtKB/TrEMBL |
| 3.90.810.10 | UniProtKB/TrEMBL | |
| IMAGE_CLONE | IMAGE:8372629 | IMAGE-MGC_LOAD |
| InterPro | CRIB_dom_sf | UniProtKB/TrEMBL |
| EVH1 | UniProtKB/TrEMBL | |
| PAK_box_Rho-bd | UniProtKB/TrEMBL | |
| PH_like_dom | UniProtKB/TrEMBL | |
| WASP_C | UniProtKB/TrEMBL | |
| WASPfam_EVH1 | UniProtKB/TrEMBL | |
| WH2_dom | UniProtKB/TrEMBL | |
| MGC_CLONE | MGC:187683 | IMAGE-MGC_LOAD |
| NCBI Gene | 317371 | ENTREZGENE |
| PANTHER | NEURAL WISKOTT-ALDRICH SYNDROME PROTEIN | UniProtKB/TrEMBL |
| SPROUTY-RELATED, EVH1 DOMAIN-CONTAINING PROTEIN FAMILY MEMBER | UniProtKB/TrEMBL | |
| Pfam | PBD | UniProtKB/TrEMBL |
| WH1 | UniProtKB/TrEMBL | |
| WH2 | UniProtKB/TrEMBL | |
| PhenoGen | Was | PhenoGen |
| PROSITE | CRIB | UniProtKB/TrEMBL |
| WH1 | UniProtKB/TrEMBL | |
| WH2 | UniProtKB/TrEMBL | |
| RatGTEx | ENSRNOG00000031058 | RatGTEx |
| SMART | PBD | UniProtKB/TrEMBL |
| WH1 | UniProtKB/TrEMBL | |
| WH2 | UniProtKB/TrEMBL | |
| Superfamily-SCOP | PH domain-like | UniProtKB/TrEMBL |
| WASP_C | UniProtKB/TrEMBL | |
| UniProt | B0BN43 | ENTREZGENE, UniProtKB/TrEMBL |
| G3V9K5_RAT | UniProtKB/TrEMBL | |
| M0RBE8 | ENTREZGENE, UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2019-04-02 | Was | WASP actin nucleation promoting factor | Was | Wiskott-Aldrich syndrome | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2013-04-01 | Was | Wiskott-Aldrich syndrome | Was | Wiskott-Aldrich syndrome homolog (human) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2008-04-30 | Was | Wiskott-Aldrich syndrome homolog (human) | Was_predicted | Wiskott-Aldrich syndrome homolog (human) (predicted) | 'predicted' is removed | 2292626 | APPROVED |
| 2006-03-30 | Was_predicted | Wiskott-Aldrich syndrome homolog (human) (predicted) | WAS_predicted | Wiskott-Aldrich syndrome protein (predicted) | Symbol and Name updated | 1299863 | APPROVED |
| 2006-03-07 | WAS_predicted | Wiskott-Aldrich syndrome protein (predicted) | WAS | Wiskott-Aldrich syndrome protein | Symbol and Name status set to approved | 1299863 | APPROVED |
| 2006-02-09 | WAS | Wiskott-Aldrich syndrome protein | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
| Note Type | Note | Reference |
|---|