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WHSC1L1 (Wolf-Hirschhorn syndrome candidate 1 like gene 1)

Written2005-03Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


LocusID (NCBI) 54904
Atlas_Id 42810
Location 8p11.23  [Link to chromosome band 8p11]
Location_base_pair Starts at and ends at bp from pter
Local_order WHSC1L1/NSD3 is 30 kb more telomeric than FGFR1 .
Fusion genes
(updated 2016)
CAPN15 (16p13.3) / WHSC1L1 (8p11.23)CHD7 (8q12.2) / WHSC1L1 (8p11.23)LSM1 (8p11.23) / WHSC1L1 (8p11.23)
MTSS1 (8q24.13) / WHSC1L1 (8p11.23)NUP98 (11p15.4) / WHSC1L1 (8p11.23)PROSC (8p11.23) / WHSC1L1 (8p11.23)
WHSC1L1 (8p11.23) / ADAM18 (8p11.22)WHSC1L1 (8p11.23) / ADAM32 (8p11.22)WHSC1L1 (8p11.23) / ANK1 (8p11.21)
WHSC1L1 (8p11.23) / COX4I1 (16q24.1)WHSC1L1 (8p11.23) / CSMD1 (8p23.2)WHSC1L1 (8p11.23) / DUSP26 (8p12)
WHSC1L1 (8p11.23) / FGFR1 (8p11.23)WHSC1L1 (8p11.23) / GAB2 (11q14.1)WHSC1L1 (8p11.23) / MUCL1 (12q13.2)
WHSC1L1 (8p11.23) / NEGR1 (1p31.1)WHSC1L1 (8p11.23) / NUP98 (11p15.4)WHSC1L1 (8p11.23) / NUTM1 (15q14)
WHSC1L1 (8p11.23) / PLEKHA2 (8p11.22)WHSC1L1 (8p11.23) / PSD3 (8p22)WHSC1L1 (8p11.23) / SNX20 (16q12.1)
WHSC1L1 (8p11.23) / TTC3 (21q22.13)WHSC1L1 (8p11.23) / WHSC1L1 (8p11.23)WHSC1L1 (8p11.23) / ZMAT4 (8p11.21)


Description The gene spans 127 kb on minus strand.
Transcription 2 major transcripts: a short transcript ending after an alternative exon 10b (3995 bp), and a long form from exon 1 to 24 (5428 bp).


Description The long transcript encodes a 1437 aminonacids protein (162 kDa) containing from N-term to C-term: a PWWP (proline-tryptophan-tryptophan-proline) domain, 4 PHD (plant-home domain)- type zinc finger motifs, a second PWWP domain, a SET associated cystein rich domain (SAC), a SET domain, a fifth PHD,and a Cys-His rich domain. The short transcript encodes a 645 amino acids protein (73 kDa) containing only the N-term t PWWP domain.
Expression wide.
Localisation putative nuclear location.
Function may have a regulatory role.
Homology NSD1, WHSC1/NSD2 .


Somatic a hybrid gene involving WHSC1L1/NSD3 was found in a rare leukemia subtype (see below); amplification of a region containing WHSC1L1/NSD3 was found in a subset of breast cancers (but it remains to be determined which gene, within an amplicon, is the critical gene).

Implicated in

Entity t(8;11)(p11;p15) Acute non lymphocytic leukemia with WHSC1L1/NSD3 - NUP98 .
Prognosis yet unknown: only 1 case with a proven hybrid gene 5' NUP98 - 3' NSD3; 2 other possible cases, but other genes may also be involved.

To be noted

This region in 8p11.2 seems to be derived from a duplication of 4p16.3 with similar genes WHSC1L1, FGFR1, and TACC1 in 8p11 from pter, and TACC3, FGFR3, and WHSC1 in 4p16 from pter


NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines.
Angrand PO, Apiou F, Stewart AF, Dutrillaux B, Losson R, Chambon P
Genomics. 2001 ; 74 (1) : 79-88.
PMID 11374904
NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15).
Rosati R, La Starza R, Veronese A, Aventin A, Schwienbacher C, Vallespi T, Negrini M, Martelli MF, Mecucci C
Blood. 2002 ; 99 (10) : 3857-3860.
PMID 11986249
WHSC1L1, on human chromosome 8p11.2, closely resembles WHSC1 and maps to a duplicated region shared with 4p16.3.
Stec I, van Ommen GJ, den Dunnen JT
Genomics. 2001 ; 76 (1-3) : 5-8.
PMID 11549311


This paper should be referenced as such :
Huret, JL
WHSC1L1 (Wolf-Hirschhorn syndrome candidate 1 like gene 1)
Atlas Genet Cytogenet Oncol Haematol. 2005;9(2):143-144.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  8p11 myeloproliferative syndrome (FGFR1)
t(8;11)(p11;p15) NUP98/WHSC1L1

External links

Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)54904
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
canSAR (ICR) (select the gene name)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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