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Gene Detail
Wolf-Hirschhorn syndrome candidate 1 (human)
Synonyms 5830445G22Rik, 9430010A17Rik, C130020C13Rik, D030027O06Rik, D930023B08Rik, mKIAA1090, Whsc1l
Feature Type protein coding gene
Genetic Map
Chromosome 5
17.83 cM
Detailed Genetic Map ± 1 cM

Mapping data(4)
Sequence Map
Chr5:33820725-33897975 bp, + strand
From VEGA annotation of GRCm38

  77251 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
HomoloGene:26175  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Whsc1

Human Homolog WHSC1, Wolf-Hirschhorn syndrome candidate 1
NCBI Gene ID 7468
neXtProt AC  NX_O96028
Human Synonyms  MMSET, NSD2, REIIBP, TRX5, WHS
Human Chr (Location)  4p16.3; chr4:1871396-1982207 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human WHSC1
alleles, and
All mutations/alleles(8) : Chemically induced (ENU)(1) Gene trapped(1) Radiation induced(5) Targeted(1)
Genomic Mutations involving Whsc1 (6)
Incidental mutations (data from Mutagenetix , APF )
Homozygous null mice display reduced fetal size, failed sternum ossification, cleft palate, atrial and ventricular septal defects, stunted growth and postnatal death. Some heterozygotes show severe growth defects, malocclusion, delayed sternum ossification and hypoplasia of the septum secundum.
Human Diseases Modeled Using Mouse Whsc1 (1)    Alleles Annotated to Human Diseases(5)   
Whsc1 interacts with 431 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
All GO classifications: (28 annotations)
Process atrial septum primum morphogenesis, atrial septum secundum morphogenesis, ...
Component chromosome, nuclear membrane, ...
Function chromatin binding, DNA binding, ...
External Resources: FuncBase
Literature Summary: (7 records)
Data Summary: Results (123)    Tissues (112)    Images (13)
Theiler Stages: 17, 22, 23
Assay TypeResults
RNA in situ 123
cDNA source data(26)
External Resources: Allen Institute   GEO   Expression Atlas
All nucleic(28) cDNA(27) Primer pair(1)
Microarray probesets(10)
Other database
VEGA Gene ModelOTTMUSG00000025044 (Evidence)
Ensembl Gene ModelENSMUSG00000057406 (Evidence)
Entrez Gene107823 (Evidence)
DFCITC1579470, TC1600877, TC1601185, TC1601890, TC1625333, TC1637769, TC1647439, TC1659447
NIA Mouse Gene IndexU133579, U271571
Consensus CDS ProjectCCDS51467.1, CCDS51468.1
International Mouse Knockout Project StatusWhsc1
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025044 VEGA Gene Model | MGI Sequence Detail 77251 C57BL/6J ±  kb
transcript OTTMUST00000061620 VEGA | MGI Sequence Detail 7142 Not Applicable 
polypeptide OTTMUSP00000030262 VEGA | MGI Sequence Detail 1366 Not Applicable 

For the selected sequences
All sequences(116) RefSeq(19) UniProt(9)
Polymorphisms SNPs within 2kb(192 from dbSNP Build 137)
InterPro IPR006560 AWS
InterPro IPR009071 High mobility group (HMG) box domain
InterPro IPR003616 Post-SET domain
InterPro IPR000313 PWWP
InterPro IPR001214 SET domain
InterPro IPR011011 Zinc finger, FYVE/PHD-type
InterPro IPR019787 Zinc finger, PHD-finger
InterPro IPR001965 Zinc finger, PHD-type
InterPro IPR019786 Zinc finger, PHD-type, conserved site
InterPro IPR013083 Zinc finger, RING/FYVE/PHD-type
InterPro IPR001841 Zinc finger, RING-type
Protein Ontology PR:000030426 probable histone-lysine N-methyltransferase NSD2
References (Earliest) J:48436 Stec I, et al., WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma [published erratum appears in HumMol Genet 1998 Sep;7(9):1527]. Hum Mol Genet. 1998 Jul;7(7):1071-82
(Latest) J:200067 Sarai N, et al., WHSC1 links transcription elongation to HIRA-mediated histone H3.3 deposition. EMBO J. 2013 Aug 28;32(17):2392-406
All references(40)
Disease annotation references (1)
accession IDs
MGI:1923296, MGI:1924531, MGI:2141235, MGI:2442003, MGI:2442363, MGI:2443975

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 5.19
The Jackson Laboratory