WASL (WASP like actin nucleation promoting factor) - Rat Genome Database

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Gene: WASL (WASP like actin nucleation promoting factor) Homo sapiens
Analyze
Symbol: WASL
Name: WASP like actin nucleation promoting factor
RGD ID: 1347655
HGNC Page HGNC:12735
Description: Predicted to enable identical protein binding activity. Involved in several processes, including actin filament polymerization; negative regulation of lymphocyte migration; and negative regulation of membrane tubulation. Located in cytosol and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: actin nucleation-promoting factor WASL; DKFZp779G0847; MGC48327; N-WASP; neural Wiskott-Aldrich syndrome protein; NWASP; WASPB; Wiskott-Aldrich syndrome gene-like; Wiskott-Aldrich syndrome like; Wiskott-Aldrich syndrome-like
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387123,681,943 - 123,749,003 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl7123,681,943 - 123,749,003 (-)EnsemblGRCh38hg38GRCh38
GRCh377123,321,997 - 123,389,057 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367123,109,233 - 123,176,352 (-)NCBINCBI36Build 36hg18NCBI36
Build 347122,915,949 - 122,983,067NCBI
Celera7118,125,741 - 118,192,900 (-)NCBICelera
Cytogenetic Map7q31.32NCBI
HuRef7117,685,121 - 117,752,321 (-)NCBIHuRef
CHM1_17123,255,296 - 123,322,481 (-)NCBICHM1_1
T2T-CHM13v2.07124,998,697 - 125,065,742 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27122,710,608 - 122,777,749 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Identification of N-WASP homologs in human and rat brain. Fukuoka M, etal., Gene 1997 Sep 1;196(1-2):43-8.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9422512   PMID:9582270   PMID:9822597   PMID:9950691   PMID:10087612   PMID:10381382   PMID:10467124   PMID:10491394   PMID:10563804   PMID:10704453   PMID:10724160   PMID:10781580  
PMID:10867004   PMID:11052943   PMID:11082044   PMID:11146629   PMID:11157975   PMID:11179684   PMID:11231575   PMID:11331876   PMID:11340081   PMID:11584276   PMID:11698281   PMID:11830518  
PMID:11943145   PMID:12372256   PMID:12437929   PMID:12456725   PMID:12477932   PMID:12672817   PMID:12732638   PMID:12853948   PMID:12871950   PMID:12872157   PMID:14506234   PMID:14702039  
PMID:14732713   PMID:15102814   PMID:15169891   PMID:15260990   PMID:15296718   PMID:15489334   PMID:15527496   PMID:15699051   PMID:15791211   PMID:15834156   PMID:15894313   PMID:16055720  
PMID:16246732   PMID:16253999   PMID:16293614   PMID:16344560   PMID:16418535   PMID:16483316   PMID:16531231   PMID:16582881   PMID:16595635   PMID:16687395   PMID:16767080   PMID:16885158  
PMID:17015620   PMID:17085436   PMID:17474147   PMID:17573773   PMID:17985201   PMID:18029348   PMID:18191793   PMID:18388313   PMID:18430734   PMID:18539136   PMID:18650809   PMID:18662323  
PMID:18667055   PMID:18708039   PMID:19056867   PMID:19213734   PMID:19262673   PMID:19322201   PMID:19531213   PMID:20095995   PMID:20146487   PMID:20678498   PMID:20730103   PMID:20880986  
PMID:20936779   PMID:21516116   PMID:21533546   PMID:21610097   PMID:21677511   PMID:21706016   PMID:21769917   PMID:21785420   PMID:21832049   PMID:21873635   PMID:21988832   PMID:22139419  
PMID:22558309   PMID:22559840   PMID:22585739   PMID:22847007   PMID:22921828   PMID:22939629   PMID:23212915   PMID:23273897   PMID:23376485   PMID:23414517   PMID:23527602   PMID:23549080  
PMID:23690407   PMID:23760605   PMID:23793025   PMID:24069415   PMID:24284073   PMID:24332715   PMID:24385601   PMID:24550385   PMID:24639526   PMID:24658140   PMID:25262827   PMID:25402006  
PMID:25416956   PMID:25482634   PMID:25921289   PMID:26070569   PMID:26186194   PMID:26305187   PMID:26344197   PMID:26463123   PMID:26496610   PMID:26506240   PMID:26554011   PMID:26752341  
PMID:26871637   PMID:26986510   PMID:27095481   PMID:27107012   PMID:27129201   PMID:27143109   PMID:27684187   PMID:27685868   PMID:28514442   PMID:28718761   PMID:28938008   PMID:29100370  
PMID:29672847   PMID:30639242   PMID:30890647   PMID:31515488   PMID:31769754   PMID:31871319   PMID:31980649   PMID:32203420   PMID:32296183   PMID:32434991   PMID:32843668   PMID:32946535  
PMID:33468693   PMID:33571872   PMID:33961781   PMID:34079125   PMID:34520816   PMID:34709727   PMID:35271311   PMID:35337019   PMID:35831314  


Genomics

Comparative Map Data
WASL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387123,681,943 - 123,749,003 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl7123,681,943 - 123,749,003 (-)EnsemblGRCh38hg38GRCh38
GRCh377123,321,997 - 123,389,057 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367123,109,233 - 123,176,352 (-)NCBINCBI36Build 36hg18NCBI36
Build 347122,915,949 - 122,983,067NCBI
Celera7118,125,741 - 118,192,900 (-)NCBICelera
Cytogenetic Map7q31.32NCBI
HuRef7117,685,121 - 117,752,321 (-)NCBIHuRef
CHM1_17123,255,296 - 123,322,481 (-)NCBICHM1_1
T2T-CHM13v2.07124,998,697 - 125,065,742 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27122,710,608 - 122,777,749 (-)NCBI
Wasl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39624,613,809 - 24,665,185 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl624,613,804 - 24,665,008 (-)EnsemblGRCm39 Ensembl
GRCm38624,613,810 - 24,664,995 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl624,613,805 - 24,665,009 (-)EnsemblGRCm38mm10GRCm38
MGSCv37624,563,810 - 24,614,995 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36624,563,815 - 24,614,981 (-)NCBIMGSCv36mm8
Celera624,624,846 - 24,676,054 (-)NCBICelera
Cytogenetic Map6A3.1NCBI
Wasl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2453,083,536 - 53,132,061 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl453,083,536 - 53,132,022 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx458,070,385 - 58,118,872 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0453,977,276 - 54,025,972 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0452,411,758 - 52,460,472 (-)NCBIRnor_WKY
Rnor_6.0451,677,722 - 51,726,212 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl451,677,722 - 51,726,212 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0451,455,978 - 51,504,496 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4451,063,710 - 51,092,848 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1451,294,288 - 51,323,128 (-)NCBI
Celera448,249,249 - 48,297,692 (-)NCBICelera
Cytogenetic Map4q22NCBI
Wasl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554795,166,393 - 5,200,512 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554795,167,851 - 5,200,512 (-)NCBIChiLan1.0ChiLan1.0
WASL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.17128,357,909 - 128,388,395 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7128,360,495 - 128,385,393 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v07115,675,170 - 115,741,498 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
WASL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11411,828,298 - 11,901,190 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1411,828,687 - 11,899,788 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1411,512,373 - 11,585,271 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01411,605,958 - 11,678,914 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1411,606,343 - 11,678,904 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11411,795,524 - 11,868,439 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01411,533,495 - 11,606,377 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01411,774,079 - 11,846,981 (+)NCBIUU_Cfam_GSD_1.0
Wasl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511850,387,234 - 50,461,160 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366051,742,776 - 1,816,690 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049366051,741,832 - 1,816,694 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WASL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1823,722,188 - 23,789,506 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11823,722,188 - 23,789,516 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21825,318,931 - 25,386,518 (+)NCBISscrofa10.2Sscrofa10.2susScr3
WASL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12192,480,392 - 92,546,725 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2192,482,918 - 92,546,481 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604210,917,558 - 10,985,328 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Wasl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478312,254,715 - 12,323,232 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478312,239,467 - 12,322,403 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in WASL
5 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:762
Count of miRNA genes:533
Interacting mature miRNAs:584
Transcripts:ENST00000223023
Prediction methods:Miranda
Result types:miRGate_prediction

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.

Markers in Region
D7S487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377123,379,867 - 123,380,005UniSTSGRCh37
GRCh377123,379,840 - 123,380,027UniSTSGRCh37
Build 367123,167,076 - 123,167,263RGDNCBI36
Celera7118,183,657 - 118,183,789UniSTS
Celera7118,183,630 - 118,183,811RGD
Cytogenetic Map7q31.3UniSTS
HuRef7117,743,071 - 117,743,201UniSTS
HuRef7117,743,044 - 117,743,223UniSTS
CRA_TCAGchr7v27122,768,471 - 122,768,651UniSTS
CRA_TCAGchr7v27122,768,498 - 122,768,629UniSTS
Marshfield Genetic Map7128.41RGD
Genethon Genetic Map7130.0UniSTS
Stanford-G3 RH Map76131.0UniSTS
Whitehead-YAC Contig Map7 UniSTS
GeneMap99-G3 RH Map76131.0UniSTS
SHGC-152662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377123,379,838 - 123,380,036UniSTSGRCh37
Build 367123,167,074 - 123,167,272RGDNCBI36
Celera7118,183,628 - 118,183,820RGD
Cytogenetic Map7q31.3UniSTS
HuRef7117,743,042 - 117,743,232UniSTS
CRA_TCAGchr7v27122,768,469 - 122,768,660UniSTS
TNG Radiation Hybrid Map452473.0UniSTS
SHGC-144840  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377123,335,166 - 123,335,436UniSTSGRCh37
Build 367123,122,402 - 123,122,672RGDNCBI36
Celera7118,138,951 - 118,139,221RGD
Cytogenetic Map7q31.3UniSTS
HuRef7117,698,347 - 117,698,617UniSTS
CRA_TCAGchr7v27122,723,793 - 122,724,063UniSTS
RH69244  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377123,383,546 - 123,383,700UniSTSGRCh37
Build 367123,170,782 - 123,170,936RGDNCBI36
Celera7118,187,330 - 118,187,484RGD
Cytogenetic Map7q31.3UniSTS
HuRef7117,746,742 - 117,746,896UniSTS
CRA_TCAGchr7v27122,772,170 - 122,772,324UniSTS
GeneMap99-GB4 RH Map7562.25UniSTS
D7S2879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377123,330,692 - 123,330,895UniSTSGRCh37
Build 367123,117,928 - 123,118,131RGDNCBI36
Celera7118,134,477 - 118,134,680RGD
Cytogenetic Map7q31.3UniSTS
HuRef7117,693,873 - 117,694,076UniSTS
CRA_TCAGchr7v27122,719,318 - 122,719,521UniSTS
GeneMap99-G3 RH Map76149.0UniSTS
D7S487  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q31.3UniSTS
Marshfield Genetic Map7128.41UniSTS
Genethon Genetic Map7130.0UniSTS
Whitehead-YAC Contig Map7 UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2425 1907 1695 603 787 446 4320 1910 3480 413 1451 1603 171 1203 2757 4
Low 14 1032 31 21 1112 19 37 287 254 6 9 10 4 1 1 31 2 2
Below cutoff 52 52

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_003941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM295156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB990698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF593336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D88460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB380642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  E15468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000223023   ⟹   ENSP00000223023
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7123,681,943 - 123,749,003 (-)Ensembl
RefSeq Acc Id: NM_003941   ⟹   NP_003932
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387123,681,943 - 123,749,003 (-)NCBI
GRCh377123,321,981 - 123,389,125 (-)NCBI
Build 367123,109,233 - 123,176,352 (-)NCBI Archive
HuRef7117,685,121 - 117,752,321 (-)NCBI
CHM1_17123,255,296 - 123,322,481 (-)NCBI
T2T-CHM13v2.07124,998,697 - 125,065,742 (-)NCBI
CRA_TCAGchr7v27122,710,608 - 122,777,749 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003932   ⟸   NM_003941
- UniProtKB: Q7Z746 (UniProtKB/Swiss-Prot),   O00401 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000223023   ⟸   ENST00000223023
Protein Domains
CRIB   WH1   WH2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00401-F1-model_v2 AlphaFold O00401 1-505 view protein structure

Promoters
RGD ID:6806411
Promoter ID:HG_KWN:59534
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003941,   UC003VLA.2
Position:
Human AssemblyChrPosition (strand)Source
Build 367123,174,931 - 123,176,712 (-)MPROMDB
RGD ID:7211823
Promoter ID:EPDNEW_H11657
Type:initiation region
Name:WASL_1
Description:Wiskott-Aldrich syndrome like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387123,749,001 - 123,749,061EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1 copy number loss See cases [RCV000054160] Chr7:113799835..124899218 [GRCh38]
Chr7:113439890..124539272 [GRCh37]
Chr7:113227126..124326508 [NCBI36]
Chr7:7q31.1-31.33
pathogenic
GRCh38/hg38 7q31.32-31.33(chr7:123319393-124170657)x3 copy number gain See cases [RCV000134327] Chr7:123319393..124170657 [GRCh38]
Chr7:122959447..123810711 [GRCh37]
Chr7:122746683..123597947 [NCBI36]
Chr7:7q31.32-31.33
uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1 copy number loss See cases [RCV000135311] Chr7:114142477..125840381 [GRCh38]
Chr7:113782532..125480435 [GRCh37]
Chr7:113569768..125267671 [NCBI36]
Chr7:7q31.1-31.33
pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1 copy number loss See cases [RCV000138226] Chr7:117326805..134790689 [GRCh38]
Chr7:116966859..134475440 [GRCh37]
Chr7:116754095..134125980 [NCBI36]
Chr7:7q31.2-33
pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3
pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3
pathogenic
GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1 copy number loss See cases [RCV000142521] Chr7:122018122..128907727 [GRCh38]
Chr7:121658176..128547780 [GRCh37]
Chr7:121445412..128335016 [NCBI36]
Chr7:7q31.32-32.1
pathogenic
GRCh38/hg38 7q31.32-31.33(chr7:123303689-124164709)x3 copy number gain See cases [RCV000143276] Chr7:123303689..124164709 [GRCh38]
Chr7:122943743..123804763 [GRCh37]
Chr7:122730979..123591999 [NCBI36]
Chr7:7q31.32-31.33
uncertain significance
GRCh38/hg38 7q31.32-31.33(chr7:123303689-124171626)x3 copy number gain See cases [RCV000143482] Chr7:123303689..124171626 [GRCh38]
Chr7:122943743..123811680 [GRCh37]
Chr7:122730979..123598916 [NCBI36]
Chr7:7q31.32-31.33
uncertain significance
GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1 copy number loss See cases [RCV000240177] Chr7:111613396..127897316 [GRCh37]
Chr7:7q31.1-32.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q31.32-31.33(chr7:122943743-123804763)x3 copy number gain not provided [RCV000682868] Chr7:122943743..123804763 [GRCh37]
Chr7:7q31.32-31.33
likely benign
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)x1 copy number loss not provided [RCV000847911] Chr7:121480906..129389003 [GRCh37]
Chr7:7q31.32-32.2
pathogenic
GRCh37/hg19 7q31.32(chr7:122637357-123574829)x3 copy number gain not provided [RCV001006006] Chr7:122637357..123574829 [GRCh37]
Chr7:7q31.32
likely benign
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3
pathogenic
GRCh37/hg19 7q31.32(chr7:122963176-123347717)x3 copy number gain not provided [RCV001258969] Chr7:122963176..123347717 [GRCh37]
Chr7:7q31.32
uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694) copy number loss Global developmental delay [RCV001352642] Chr7:116297277..126370694 [GRCh37]
Chr7:7q31.2-31.33
pathogenic
Single allele deletion Delayed speech and language development [RCV002251690] Chr7:114888786..124720929 [GRCh37]
Chr7:7q31.2-31.33
likely pathogenic
GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489) copy number gain not specified [RCV002053715] Chr7:106984287..128949489 [GRCh37]
Chr7:7q22.3-32.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12735 AgrOrtholog
COSMIC WASL COSMIC
Ensembl Genes ENSG00000106299 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000223023 ENTREZGENE
  ENSP00000223023.4 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000223023 ENTREZGENE
  ENST00000223023.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.810.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000106299 GTEx
HGNC ID HGNC:12735 ENTREZGENE
Human Proteome Map WASL Human Proteome Map
InterPro CRIB_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CRIB_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  N-WASP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WASP_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WASPfam_EVH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH1/EVH1_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8976 UniProtKB/Swiss-Prot
NCBI Gene 8976 ENTREZGENE
OMIM 605056 OMIM
PANTHER PTHR23202:SF39 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37346 PharmGKB
PROSITE CRIB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47912 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4D0Y1_HUMAN UniProtKB/TrEMBL
  O00401 ENTREZGENE
  Q7Z746 ENTREZGENE
  WASL_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A1JUI9 UniProtKB/Swiss-Prot
  Q7Z746 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-19 WASL  WASP like actin nucleation promoting factor  WASL  Wiskott-Aldrich syndrome like  Symbol and/or name change 5135510 APPROVED
2016-03-21 WASL  Wiskott-Aldrich syndrome like  WASL  Wiskott-Aldrich syndrome-like  Symbol and/or name change 5135510 APPROVED