WASF1 (WASP family member 1) - Rat Genome Database

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Gene: WASF1 (WASP family member 1) Homo sapiens
Analyze
Symbol: WASF1
Name: WASP family member 1
RGD ID: 1343996
HGNC Page HGNC:12732
Description: Enables protein kinase A binding activity. Contributes to small GTPase binding activity. Involved in several processes, including Rac protein signal transduction; lamellipodium morphogenesis; and positive regulation of Arp2/3 complex-mediated actin nucleation. Part of SCAR complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: actin-binding protein WASF1; FLJ31482; homology of dictyostelium scar 1; KIAA0269; NEDALVS; protein WAVE-1; SCAR1; verprolin homology domain-containing protein 1; WAS protein family member 1; WAS protein family, member 1; WASP family protein member 1; WAVE; WAVE1; wiskott-Aldrich syndrome protein family member 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: WASF1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386110,099,819 - 110,179,670 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6110,099,819 - 110,180,004 (-)EnsemblGRCh38hg38GRCh38
GRCh376110,421,022 - 110,500,873 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366110,527,715 - 110,607,900 (-)NCBINCBI36Build 36hg18NCBI36
Build 346110,527,714 - 110,606,609NCBI
Celera6111,167,684 - 111,247,873 (-)NCBICelera
Cytogenetic Map6q21NCBI
HuRef6107,987,658 - 108,067,845 (-)NCBIHuRef
CHM1_16110,684,246 - 110,764,410 (-)NCBICHM1_1
T2T-CHM13v2.06111,278,252 - 111,358,111 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:2775266   PMID:8605018   PMID:9039502   PMID:9307968   PMID:9463375   PMID:9732292   PMID:9804817   PMID:9843499   PMID:9889097   PMID:10381382   PMID:10532312   PMID:10563804  
PMID:10970852   PMID:11052943   PMID:11130076   PMID:11146629   PMID:12181570   PMID:12429845   PMID:12447388   PMID:12477932   PMID:12829704   PMID:12855698   PMID:12872157   PMID:12931191  
PMID:14506234   PMID:14702039   PMID:15048123   PMID:15048733   PMID:15280206   PMID:15489334   PMID:15494313   PMID:15506982   PMID:15659634   PMID:15670045   PMID:15834156   PMID:16530190  
PMID:16862120   PMID:17101133   PMID:17696648   PMID:17901257   PMID:17939402   PMID:18029348   PMID:18287015   PMID:18516090   PMID:18559503   PMID:18947485   PMID:18995840   PMID:19222940  
PMID:19497998   PMID:19631450   PMID:19731823   PMID:19890377   PMID:20368433   PMID:20426950   PMID:21107423   PMID:21844371   PMID:21873635   PMID:21875946   PMID:21946561   PMID:22179776  
PMID:22721732   PMID:22939629   PMID:23273897   PMID:23452202   PMID:23680521   PMID:24439377   PMID:24819384   PMID:25097019   PMID:25281560   PMID:25315684   PMID:25355952   PMID:25416956  
PMID:25473116   PMID:25527710   PMID:25544563   PMID:25609649   PMID:25745180   PMID:25799492   PMID:25906751   PMID:25921289   PMID:26186194   PMID:26280122   PMID:26288249   PMID:26344197  
PMID:26496610   PMID:26977009   PMID:27035872   PMID:27173435   PMID:27609421   PMID:27880917   PMID:28473602   PMID:28514442   PMID:29053956   PMID:29117863   PMID:29386393   PMID:29961568  
PMID:30697796   PMID:31182584   PMID:31600188   PMID:31871319   PMID:31980649   PMID:32296183   PMID:32697617   PMID:32886101   PMID:33558065   PMID:33961781   PMID:34079125   PMID:35271311  
PMID:35384245   PMID:35831314   PMID:35844135   PMID:35944360   PMID:36215168   PMID:37071682   PMID:39358380  


Genomics

Comparative Map Data
WASF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386110,099,819 - 110,179,670 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6110,099,819 - 110,180,004 (-)EnsemblGRCh38hg38GRCh38
GRCh376110,421,022 - 110,500,873 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366110,527,715 - 110,607,900 (-)NCBINCBI36Build 36hg18NCBI36
Build 346110,527,714 - 110,606,609NCBI
Celera6111,167,684 - 111,247,873 (-)NCBICelera
Cytogenetic Map6q21NCBI
HuRef6107,987,658 - 108,067,845 (-)NCBIHuRef
CHM1_16110,684,246 - 110,764,410 (-)NCBICHM1_1
T2T-CHM13v2.06111,278,252 - 111,358,111 (-)NCBIT2T-CHM13v2.0
Wasf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391040,759,476 - 40,814,565 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1040,759,471 - 40,814,566 (+)EnsemblGRCm39 Ensembl
GRCm381040,883,480 - 40,938,569 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1040,883,475 - 40,938,570 (+)EnsemblGRCm38mm10GRCm38
MGSCv371040,603,340 - 40,658,375 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361040,571,988 - 40,626,982 (+)NCBIMGSCv36mm8
Celera1041,779,631 - 41,834,540 (+)NCBICelera
Cytogenetic Map10B1NCBI
cM Map1022.07NCBI
Wasf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82045,908,458 - 45,956,118 (+)NCBIGRCr8
mRatBN7.22044,325,815 - 44,372,999 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2044,325,795 - 44,372,996 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2046,110,330 - 46,157,484 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02045,769,485 - 45,816,639 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02046,492,179 - 46,541,494 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02048,456,191 - 48,503,768 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2048,455,705 - 48,503,898 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02050,107,711 - 50,155,913 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera2045,130,786 - 45,177,385 (+)NCBICelera
Cytogenetic Map20q12NCBI
Wasf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541134,889,566 - 34,965,769 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541134,893,287 - 34,966,670 (-)NCBIChiLan1.0ChiLan1.0
WASF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25130,117,370 - 130,204,116 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16128,003,292 - 128,090,041 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06107,911,751 - 107,988,821 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16111,951,725 - 112,058,554 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6111,951,726 - 111,979,329 (-)Ensemblpanpan1.1panPan2
WASF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11266,833,776 - 66,897,500 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1266,833,995 - 66,897,483 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1266,653,278 - 66,717,426 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01267,717,606 - 67,781,968 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1267,717,613 - 67,781,602 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11267,069,337 - 67,133,320 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01266,915,644 - 66,979,778 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01267,187,405 - 67,251,555 (-)NCBIUU_Cfam_GSD_1.0
Wasf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946101,761,273 - 101,821,206 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365646,036,135 - 6,096,046 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WASF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1176,107,595 - 76,180,335 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2185,590,358 - 85,660,191 (-)NCBISscrofa10.2Sscrofa10.2susScr3
WASF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11363,718,784 - 63,793,024 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1363,718,737 - 63,793,151 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604036,004,710 - 36,077,937 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Wasf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249161,181,234 - 1,201,975 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249161,183,291 - 1,301,925 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in WASF1
86 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 copy number loss See cases [RCV000051196] Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2		 pathogenic
GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1 copy number loss See cases [RCV000134806] Chr6:102356502..111049879 [GRCh38]
Chr6:102804377..111371082 [GRCh37]
Chr6:102911070..111477775 [NCBI36]
Chr6:6q16.3-21		 pathogenic
GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1 copy number loss See cases [RCV000138006] Chr6:107370141..115827482 [GRCh38]
Chr6:107691345..116148646 [GRCh37]
Chr6:107798038..116255339 [NCBI36]
Chr6:6q21-22.1		 pathogenic
GRCh38/hg38 6q21(chr6:109780913-110202309)x1 copy number loss See cases [RCV000140325] Chr6:109780913..110202309 [GRCh38]
Chr6:110102116..110523512 [GRCh37]
Chr6:110208809..110630205 [NCBI36]
Chr6:6q21		 uncertain significance
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 copy number loss See cases [RCV000139465] Chr6:96609994..122161548 [GRCh38]
Chr6:97057870..122482694 [GRCh37]
Chr6:97164591..122524393 [NCBI36]
Chr6:6q16.1-22.31		 pathogenic
GRCh38/hg38 6q21(chr6:107445281-110547907)x1 copy number loss See cases [RCV000141382] Chr6:107445281..110547907 [GRCh38]
Chr6:107766485..110869110 [GRCh37]
Chr6:107873178..110975803 [NCBI36]
Chr6:6q21		 pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 copy number loss See cases [RCV000141587] Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31		 pathogenic
GRCh38/hg38 6q21(chr6:110020558-111200711)x3 copy number gain See cases [RCV000141546] Chr6:110020558..111200711 [GRCh38]
Chr6:110341761..111521914 [GRCh37]
Chr6:110448454..111628607 [NCBI36]
Chr6:6q21		 uncertain significance
GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1 copy number loss See cases [RCV000142287] Chr6:103279465..113934239 [GRCh38]
Chr6:103727340..114255403 [GRCh37]
Chr6:103834033..114362096 [NCBI36]
Chr6:6q16.3-21		 pathogenic
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 copy number loss See cases [RCV000143227] Chr6:100054889..120488154 [GRCh38]
Chr6:100502765..120809300 [GRCh37]
Chr6:100609486..120850999 [NCBI36]
Chr6:6q16.3-22.31		 pathogenic
GRCh37/hg19 6q21(chr6:109564793-112223595)x1 copy number loss See cases [RCV000447293] Chr6:109564793..112223595 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q21(chr6:110080484-110472732)x1 copy number loss See cases [RCV000510562] Chr6:110080484..110472732 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.1153G>T (p.Ala385Ser) single nucleotide variant Inborn genetic diseases [RCV003271308] Chr6:110101957 [GRCh38]
Chr6:110423160 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.920G>A (p.Arg307His) single nucleotide variant Inborn genetic diseases [RCV003257369] Chr6:110102190 [GRCh38]
Chr6:110423393 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q21(chr6:110419878-111698827)x1 copy number loss not provided [RCV000682707] Chr6:110419878..111698827 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1 copy number loss not provided [RCV000682693] Chr6:95549951..116684929 [GRCh37]
Chr6:6q16.1-22.1		 pathogenic
NM_003931.3(WASF1):c.1516C>T (p.Arg506Ter) single nucleotide variant Intellectual disability [RCV000681442]|Neurodevelopmental disorder with absent language and variable seizures [RCV000984536]|not provided [RCV001731882] Chr6:110101594 [GRCh38]
Chr6:110422797 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance
NM_003931.3(WASF1):c.1558C>T (p.Gln520Ter) single nucleotide variant Epileptic encephalopathy [RCV001003962]|Intellectual disability [RCV000681443]|Neurodevelopmental disorder with absent language and variable seizures [RCV000984537] Chr6:110100644 [GRCh38]
Chr6:110421847 [GRCh37]
Chr6:6q21		 pathogenic
NM_003931.3(WASF1):c.1482delinsGCCAGG (p.Ile494fs) indel Intellectual disability [RCV000681444]|Neurodevelopmental disorder with absent language and variable seizures [RCV000984538] Chr6:110101628 [GRCh38]
Chr6:110422831 [GRCh37]
Chr6:6q21		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_003931.3(WASF1):c.714-3T>C single nucleotide variant not provided [RCV000919350] Chr6:110103560 [GRCh38]
Chr6:110424763 [GRCh37]
Chr6:6q21		 likely benign
GRCh37/hg19 6q21(chr6:109564694-112232351)x1 copy number loss not provided [RCV001007557] Chr6:109564694..112232351 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.136A>T (p.Lys46Ter) single nucleotide variant Intellectual disability [RCV000986123] Chr6:110113458 [GRCh38]
Chr6:110434661 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_003931.3(WASF1):c.540+16A>T single nucleotide variant not specified [RCV003317849] Chr6:110107061 [GRCh38]
Chr6:110428264 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.471C>T (p.Phe157=) single nucleotide variant not provided [RCV000910162] Chr6:110107146 [GRCh38]
Chr6:110428349 [GRCh37]
Chr6:6q21		 likely benign
NM_003931.3(WASF1):c.986C>T (p.Pro329Leu) single nucleotide variant not provided [RCV004814711] Chr6:110102124 [GRCh38]
Chr6:110423327 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.545A>G (p.Lys182Arg) single nucleotide variant not provided [RCV004801771] Chr6:110105575 [GRCh38]
Chr6:110426778 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3 copy number gain Microcephaly [RCV001251053] Chr6:101296547..117004249 [GRCh37]
Chr6:6q16.3-22.1		 pathogenic
GRCh37/hg19 6q21(chr6:110288308-110768384)x3 copy number gain not provided [RCV001259394] Chr6:110288308..110768384 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1 copy number loss Deletion 6q16 q21 [RCV001263224] Chr6:98949950..114533905 [GRCh37]
Chr6:6q16.1-21		 pathogenic
GRCh37/hg19 6q21(chr6:109796301-113083437)x3 copy number gain See cases [RCV001353182] Chr6:109796301..113083437 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.1197A>G (p.Pro399=) single nucleotide variant not provided [RCV001727376] Chr6:110101913 [GRCh38]
Chr6:110423116 [GRCh37]
Chr6:6q21		 likely benign
NM_003931.3(WASF1):c.1319C>T (p.Ser440Leu) single nucleotide variant not provided [RCV001765850] Chr6:110101791 [GRCh38]
Chr6:110422994 [GRCh37]
Chr6:6q21		 likely pathogenic|uncertain significance
NM_003931.3(WASF1):c.373T>C (p.Tyr125His) single nucleotide variant not provided [RCV004809279] Chr6:110108577 [GRCh38]
Chr6:110429780 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.722C>T (p.Thr241Ile) single nucleotide variant Inborn genetic diseases [RCV004683493] Chr6:110103549 [GRCh38]
Chr6:110424752 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.1466C>G (p.Ser489Ter) single nucleotide variant Neurodevelopmental disorder with absent language and variable seizures [RCV001839136] Chr6:110101644 [GRCh38]
Chr6:110422847 [GRCh37]
Chr6:6q21		 likely pathogenic
GRCh37/hg19 6q21-22.1(chr6:110472732-114762836) copy number loss not specified [RCV002053609] Chr6:110472732..114762836 [GRCh37]
Chr6:6q21-22.1		 uncertain significance
GRCh37/hg19 6q21(chr6:109564793-112223595) copy number loss not specified [RCV002053608] Chr6:109564793..112223595 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687) copy number loss not specified [RCV002053595] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
GRCh37/hg19 6q15-22.2(chr6:92054891-118329651) copy number loss not specified [RCV002053598] Chr6:92054891..118329651 [GRCh37]
Chr6:6q15-22.2		 pathogenic
NM_003931.3(WASF1):c.5C>T (p.Pro2Leu) single nucleotide variant not provided [RCV004777110] Chr6:110127597 [GRCh38]
Chr6:110448800 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.145G>A (p.Glu49Lys) single nucleotide variant not provided [RCV004777397] Chr6:110113449 [GRCh38]
Chr6:110434652 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.902C>G (p.Thr301Arg) single nucleotide variant not provided [RCV004778655] Chr6:110102208 [GRCh38]
Chr6:110423411 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.715C>T (p.Pro239Ser) single nucleotide variant Neurodevelopmental disorder with absent language and variable seizures [RCV002254391] Chr6:110103556 [GRCh38]
Chr6:110424759 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.1522G>A (p.Gly508Ser) single nucleotide variant Neurodevelopmental disorder with absent language and variable seizures [RCV002290055] Chr6:110101588 [GRCh38]
Chr6:110422791 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.-2A>G single nucleotide variant WASF1-related neurodevelopmental disorder [RCV003221314]|not provided [RCV002291977] Chr6:110127603 [GRCh38]
Chr6:110448806 [GRCh37]
Chr6:6q21		 uncertain significance|not provided
NM_003931.3(WASF1):c.1553G>A (p.Arg518His) single nucleotide variant not provided [RCV002286969] Chr6:110100649 [GRCh38]
Chr6:110421852 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.493dup (p.Met165fs) duplication Neurodevelopmental disorder with absent language and variable seizures [RCV003236527] Chr6:110107123..110107124 [GRCh38]
Chr6:110428326..110428327 [GRCh37]
Chr6:6q21		 pathogenic
NM_003931.3(WASF1):c.1613G>A (p.Arg538His) single nucleotide variant not provided [RCV002291413] Chr6:110100589 [GRCh38]
Chr6:110421792 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.493A>C (p.Met165Leu) single nucleotide variant Inborn genetic diseases [RCV004965857]|not provided [RCV002285581] Chr6:110107124 [GRCh38]
Chr6:110428327 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.1331C>T (p.Thr444Ile) single nucleotide variant not provided [RCV003129330] Chr6:110101779 [GRCh38]
Chr6:110422982 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q21(chr6:110096791-110491262)x3 copy number gain not provided [RCV002473782] Chr6:110096791..110491262 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.919C>T (p.Arg307Cys) single nucleotide variant Inborn genetic diseases [RCV002990042] Chr6:110102191 [GRCh38]
Chr6:110423394 [GRCh37]
Chr6:6q21		 likely benign
NM_003931.3(WASF1):c.290T>C (p.Met97Thr) single nucleotide variant not provided [RCV003231766] Chr6:110108660 [GRCh38]
Chr6:110429863 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.1184A>G (p.Gln395Arg) single nucleotide variant not provided [RCV002462739] Chr6:110101926 [GRCh38]
Chr6:110423129 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.170A>G (p.Asn57Ser) single nucleotide variant Inborn genetic diseases [RCV002974450]|WASF1-related disorder [RCV003906607] Chr6:110113424 [GRCh38]
Chr6:110434627 [GRCh37]
Chr6:6q21		 likely benign
GRCh37/hg19 6q21(chr6:110098753-110491262)x3 copy number gain not provided [RCV002475555] Chr6:110098753..110491262 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.1060C>T (p.Pro354Ser) single nucleotide variant Inborn genetic diseases [RCV002888463] Chr6:110102050 [GRCh38]
Chr6:110423253 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.733C>G (p.His245Asp) single nucleotide variant not provided [RCV003037068] Chr6:110103538 [GRCh38]
Chr6:110424741 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.1459C>T (p.His487Tyr) single nucleotide variant Inborn genetic diseases [RCV002850730] Chr6:110101651 [GRCh38]
Chr6:110422854 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.271T>C (p.Ser91Pro) single nucleotide variant Inborn genetic diseases [RCV002874775] Chr6:110108679 [GRCh38]
Chr6:110429882 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.738G>T (p.Met246Ile) single nucleotide variant Inborn genetic diseases [RCV002826850] Chr6:110103533 [GRCh38]
Chr6:110424736 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.893+3A>T single nucleotide variant Inborn genetic diseases [RCV002717459] Chr6:110103375 [GRCh38]
Chr6:110424578 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.1436T>C (p.Ile479Thr) single nucleotide variant not provided [RCV003026909] Chr6:110101674 [GRCh38]
Chr6:110422877 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.313A>G (p.Thr105Ala) single nucleotide variant Inborn genetic diseases [RCV002989410] Chr6:110108637 [GRCh38]
Chr6:110429840 [GRCh37]
Chr6:6q21		 likely benign
NM_003931.3(WASF1):c.839C>T (p.Pro280Leu) single nucleotide variant WASF1-related disorder [RCV003396926]|not provided [RCV003149522] Chr6:110103432 [GRCh38]
Chr6:110424635 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.998C>A (p.Ser333Tyr) single nucleotide variant not provided [RCV004777532] Chr6:110102112 [GRCh38]
Chr6:110423315 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.1048C>G (p.Pro350Ala) single nucleotide variant Inborn genetic diseases [RCV003181139] Chr6:110102062 [GRCh38]
Chr6:110423265 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.708A>T (p.Glu236Asp) single nucleotide variant Neurodevelopmental disorder with absent language and variable seizures [RCV003139310] Chr6:110105412 [GRCh38]
Chr6:110426615 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.1030A>G (p.Met344Val) single nucleotide variant Inborn genetic diseases [RCV003309152] Chr6:110102080 [GRCh38]
Chr6:110423283 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.1259T>G (p.Val420Gly) single nucleotide variant Inborn genetic diseases [RCV003266095] Chr6:110101851 [GRCh38]
Chr6:110423054 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.725dup (p.Tyr242Ter) duplication not provided [RCV003327266] Chr6:110103545..110103546 [GRCh38]
Chr6:110424748..110424749 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.1049C>T (p.Pro350Leu) single nucleotide variant Inborn genetic diseases [RCV003381815] Chr6:110102061 [GRCh38]
Chr6:110423264 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.151A>G (p.Ile51Val) single nucleotide variant not provided [RCV003457480] Chr6:110113443 [GRCh38]
Chr6:110434646 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.307A>G (p.Ser103Gly) single nucleotide variant not provided [RCV003432001] Chr6:110108643 [GRCh38]
Chr6:110429846 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.662T>C (p.Leu221Ser) single nucleotide variant WASF1-related disorder [RCV003427896] Chr6:110105458 [GRCh38]
Chr6:110426661 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.372G>A (p.Thr124=) single nucleotide variant not provided [RCV003432000] Chr6:110108578 [GRCh38]
Chr6:110429781 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_003931.3(WASF1):c.1398T>G (p.His466Gln) single nucleotide variant not provided [RCV003428922] Chr6:110101712 [GRCh38]
Chr6:110422915 [GRCh37]
Chr6:6q21		 likely benign
NM_003931.3(WASF1):c.-28-6C>T single nucleotide variant not provided [RCV003428924] Chr6:110127635 [GRCh38]
Chr6:110448838 [GRCh37]
Chr6:6q21		 likely benign
NM_003931.3(WASF1):c.547A>G (p.Asn183Asp) single nucleotide variant not provided [RCV003428923] Chr6:110105573 [GRCh38]
Chr6:110426776 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.1119T>G (p.Ala373=) single nucleotide variant not provided [RCV003431998] Chr6:110101991 [GRCh38]
Chr6:110423194 [GRCh37]
Chr6:6q21		 likely benign
NM_003931.3(WASF1):c.341G>C (p.Arg114Pro) single nucleotide variant WASF1-related disorder [RCV003427977] Chr6:110108609 [GRCh38]
Chr6:110429812 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.262G>T (p.Glu88Ter) single nucleotide variant Neurodevelopmental disorder with absent language and variable seizures [RCV003388877] Chr6:110113332 [GRCh38]
Chr6:110434535 [GRCh37]
Chr6:6q21		 pathogenic
NM_003931.3(WASF1):c.1382C>T (p.Thr461Ile) single nucleotide variant Neurodevelopmental disorder with absent language and variable seizures [RCV005036800]|WASF1-related disorder [RCV003929163]|not provided [RCV003431997] Chr6:110101728 [GRCh38]
Chr6:110422931 [GRCh37]
Chr6:6q21		 benign|likely benign|uncertain significance
NM_003931.3(WASF1):c.557G>A (p.Arg186His) single nucleotide variant WASF1-related disorder [RCV003405880] Chr6:110105563 [GRCh38]
Chr6:110426766 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.776A>G (p.Gln259Arg) single nucleotide variant not provided [RCV003431999] Chr6:110103495 [GRCh38]
Chr6:110424698 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.656A>G (p.Asn219Ser) single nucleotide variant not provided [RCV003685017] Chr6:110105464 [GRCh38]
Chr6:110426667 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.1431A>C (p.Gln477His) single nucleotide variant WASF1-related disorder [RCV003941465] Chr6:110101679 [GRCh38]
Chr6:110422882 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.1385C>T (p.Ala462Val) single nucleotide variant WASF1-related disorder [RCV003959799] Chr6:110101725 [GRCh38]
Chr6:110422928 [GRCh37]
Chr6:6q21		 likely benign
NM_003931.3(WASF1):c.1269G>A (p.Leu423=) single nucleotide variant WASF1-related disorder [RCV003937238] Chr6:110101841 [GRCh38]
Chr6:110423044 [GRCh37]
Chr6:6q21		 likely benign
NM_003931.3(WASF1):c.1045C>T (p.Pro349Ser) single nucleotide variant WASF1-related disorder [RCV003957383] Chr6:110102065 [GRCh38]
Chr6:110423268 [GRCh37]
Chr6:6q21		 benign
NM_003931.3(WASF1):c.1083T>A (p.Thr361=) single nucleotide variant WASF1-related disorder [RCV003922000] Chr6:110102027 [GRCh38]
Chr6:110423230 [GRCh37]
Chr6:6q21		 likely benign
NM_003931.3(WASF1):c.1580T>C (p.Ile527Thr) single nucleotide variant Inborn genetic diseases [RCV004477873] Chr6:110100622 [GRCh38]
Chr6:110421825 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.311C>A (p.Ser104Tyr) single nucleotide variant Inborn genetic diseases [RCV004477874] Chr6:110108639 [GRCh38]
Chr6:110429842 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.319C>G (p.Gln107Glu) single nucleotide variant Inborn genetic diseases [RCV004477875] Chr6:110108631 [GRCh38]
Chr6:110429834 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1 copy number loss not provided [RCV004577478] Chr6:109324789..124836619 [GRCh37]
Chr6:6q21-22.31		 pathogenic
NM_003931.3(WASF1):c.740A>C (p.Asp247Ala) single nucleotide variant not provided [RCV004592255] Chr6:110103531 [GRCh38]
Chr6:110424734 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.1473del (p.Pro492fs) deletion Neurodevelopmental disorder with absent language and variable seizures [RCV004595300] Chr6:110101637 [GRCh38]
Chr6:110422840 [GRCh37]
Chr6:6q21		 pathogenic
NM_003931.3(WASF1):c.1058C>G (p.Pro353Arg) single nucleotide variant Inborn genetic diseases [RCV004688700] Chr6:110102052 [GRCh38]
Chr6:110423255 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.1411C>T (p.Pro471Ser) single nucleotide variant not provided [RCV004811808] Chr6:110101699 [GRCh38]
Chr6:110422902 [GRCh37]
Chr6:6q21		 likely benign
NM_003931.3(WASF1):c.1480A>G (p.Ile494Val) single nucleotide variant WASF1-related disorder [RCV004755202] Chr6:110101630 [GRCh38]
Chr6:110422833 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.1375C>G (p.Pro459Ala) single nucleotide variant WASF1-related disorder [RCV004730473] Chr6:110101735 [GRCh38]
Chr6:110422938 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.113T>A (p.Ile38Asn) single nucleotide variant not provided [RCV004759881]   uncertain significance
NM_003931.3(WASF1):c.1676A>G (p.Glu559Gly) single nucleotide variant not provided [RCV004723851] Chr6:110100526 [GRCh38]
Chr6:110421729 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.894-1G>T single nucleotide variant not provided [RCV004766185] Chr6:110102217 [GRCh38]
Chr6:110423420 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.650A>G (p.Asp217Gly) single nucleotide variant WASF1-related disorder [RCV004731437] Chr6:110105470 [GRCh38]
Chr6:110426673 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.358C>A (p.Pro120Thr) single nucleotide variant not provided [RCV004775188] Chr6:110108592 [GRCh38]
Chr6:110429795 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.179A>G (p.His60Arg) single nucleotide variant not specified [RCV004702996] Chr6:110113415 [GRCh38]
Chr6:110434618 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.957T>G (p.Phe319Leu) single nucleotide variant Neurodevelopmental disorder with absent language and variable seizures [RCV005052265] Chr6:110102153 [GRCh38]
Chr6:110423356 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.1199T>C (p.Val400Ala) single nucleotide variant Inborn genetic diseases [RCV004967264] Chr6:110101911 [GRCh38]
Chr6:110423114 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.652G>A (p.Ala218Thr) single nucleotide variant Neurodevelopmental disorder with absent language and variable seizures [RCV005045534] Chr6:110105468 [GRCh38]
Chr6:110426671 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.794C>G (p.Thr265Ser) single nucleotide variant Inborn genetic diseases [RCV004967265] Chr6:110103477 [GRCh38]
Chr6:110424680 [GRCh37]
Chr6:6q21		 likely benign
NM_003931.3(WASF1):c.854A>G (p.His285Arg) single nucleotide variant Inborn genetic diseases [RCV004967266] Chr6:110103417 [GRCh38]
Chr6:110424620 [GRCh37]
Chr6:6q21		 likely benign
NM_003931.3(WASF1):c.341G>A (p.Arg114His) single nucleotide variant Neurodevelopmental disorder with absent language and variable seizures [RCV005208356] Chr6:110108609 [GRCh38]
Chr6:110429812 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.1632T>G (p.Ser544Arg) single nucleotide variant not provided [RCV005063390] Chr6:110100570 [GRCh38]
Chr6:110421773 [GRCh37]
Chr6:6q21		 uncertain significance
NM_003931.3(WASF1):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV005250862] Chr6:110127600 [GRCh38]
Chr6:110448803 [GRCh37]
Chr6:6q21		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1665
Count of miRNA genes:409
Interacting mature miRNAs:427
Transcripts:ENST00000265601, ENST00000359451, ENST00000368938, ENST00000392586, ENST00000392587, ENST00000392588, ENST00000392589, ENST00000419252, ENST00000444391, ENST00000447287
Prediction methods:Microtar, Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298426BFD3_HBody fluid distribution QTL 3 (human)2.790.01Body fluid distributionimpedance ratio684873647110873647Human

Markers in Region
D6S1324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376110,436,368 - 110,436,494UniSTSGRCh37
Build 366110,543,061 - 110,543,187RGDNCBI36
Celera6111,183,030 - 111,183,156RGD
Cytogenetic Map6q21UniSTS
HuRef6108,003,005 - 108,003,131UniSTS
Whitehead-YAC Contig Map6 UniSTS
RH12604  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376110,457,585 - 110,457,705UniSTSGRCh37
Build 366110,564,278 - 110,564,398RGDNCBI36
Celera6111,204,247 - 111,204,367RGD
Cytogenetic Map6q21UniSTS
HuRef6108,024,221 - 108,024,341UniSTS
GeneMap99-GB4 RH Map6459.92UniSTS
NCBI RH Map61404.5UniSTS
A007F39  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376110,457,553 - 110,457,696UniSTSGRCh37
Build 366110,564,246 - 110,564,389RGDNCBI36
Celera6111,204,215 - 111,204,358RGD
Cytogenetic Map6q21UniSTS
HuRef6108,024,189 - 108,024,332UniSTS
GeneMap99-GB4 RH Map6459.92UniSTS
NCBI RH Map61404.5UniSTS
WASF1_3919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376110,421,020 - 110,421,744UniSTSGRCh37
Build 366110,527,713 - 110,528,437RGDNCBI36
Celera6111,167,682 - 111,168,406RGD
HuRef6107,987,656 - 107,988,380UniSTS
G19661  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376110,420,874 - 110,421,102UniSTSGRCh37
Build 366110,527,567 - 110,527,795RGDNCBI36
Celera6111,167,536 - 111,167,764RGD
Cytogenetic Map6q21UniSTS
HuRef6107,987,510 - 107,987,738UniSTS
A001U21  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376110,420,874 - 110,421,102UniSTSGRCh37
Build 366110,527,567 - 110,527,795RGDNCBI36
Celera6111,167,536 - 111,167,764RGD
Cytogenetic Map6q21UniSTS
HuRef6107,987,510 - 107,987,738UniSTS
GeneMap99-GB4 RH Map6466.61UniSTS
NCBI RH Map61401.4UniSTS
1634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376110,421,181 - 110,421,272UniSTSGRCh37
Build 366110,527,874 - 110,527,965RGDNCBI36
Celera6111,167,843 - 111,167,934RGD
Cytogenetic Map6q21UniSTS
HuRef6107,987,817 - 107,987,908UniSTS
GeneMap99-GB4 RH Map6459.92UniSTS
NCBI RH Map61401.4UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2436 2788 2248 4971 1726 2351 6 623 1949 465 2269 7297 6463 52 3734 1 851 1742 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001024934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001024935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001024936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF134303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI928895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL671518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX127720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX167525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG719023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI461486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000265601   ⟹   ENSP00000265601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6110,108,528 - 110,179,649 (-)Ensembl
Ensembl Acc Id: ENST00000359451   ⟹   ENSP00000352425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6110,099,819 - 110,180,004 (-)Ensembl
Ensembl Acc Id: ENST00000368938   ⟹   ENSP00000357934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6110,108,528 - 110,179,923 (-)Ensembl
Ensembl Acc Id: ENST00000392586   ⟹   ENSP00000376365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6110,099,819 - 110,180,001 (-)Ensembl
Ensembl Acc Id: ENST00000392587   ⟹   ENSP00000376366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6110,099,819 - 110,179,702 (-)Ensembl
Ensembl Acc Id: ENST00000392588   ⟹   ENSP00000376367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6110,099,819 - 110,180,004 (-)Ensembl
Ensembl Acc Id: ENST00000392589   ⟹   ENSP00000376368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6110,099,819 - 110,179,670 (-)Ensembl
Ensembl Acc Id: ENST00000419252   ⟹   ENSP00000404142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6110,113,326 - 110,180,001 (-)Ensembl
Ensembl Acc Id: ENST00000444391   ⟹   ENSP00000407041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6110,107,077 - 110,179,670 (-)Ensembl
Ensembl Acc Id: ENST00000447287   ⟹   ENSP00000402663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6110,113,326 - 110,179,649 (-)Ensembl
RefSeq Acc Id: NM_001024934   ⟹   NP_001020105
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386110,099,819 - 110,179,670 (-)NCBI
GRCh376110,421,022 - 110,501,219 (-)NCBI
Build 366110,527,715 - 110,607,900 (-)NCBI Archive
HuRef6107,987,658 - 108,067,845 (-)ENTREZGENE
CHM1_16110,684,246 - 110,764,410 (-)NCBI
T2T-CHM13v2.06111,278,252 - 111,358,111 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001024935   ⟹   NP_001020106
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386110,099,819 - 110,179,670 (-)NCBI
GRCh376110,421,022 - 110,501,219 (-)NCBI
Build 366110,527,715 - 110,607,900 (-)NCBI Archive
HuRef6107,987,658 - 108,067,845 (-)ENTREZGENE
CHM1_16110,684,246 - 110,764,410 (-)NCBI
T2T-CHM13v2.06111,278,252 - 111,358,111 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001024936   ⟹   NP_001020107
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386110,099,819 - 110,179,670 (-)NCBI
GRCh376110,421,022 - 110,501,219 (-)NCBI
Build 366110,527,715 - 110,607,900 (-)NCBI Archive
HuRef6107,987,658 - 108,067,845 (-)ENTREZGENE
CHM1_16110,684,246 - 110,764,410 (-)NCBI
T2T-CHM13v2.06111,278,252 - 111,358,111 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003931   ⟹   NP_003922
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386110,099,819 - 110,179,670 (-)NCBI
GRCh376110,421,022 - 110,501,219 (-)NCBI
Build 366110,527,715 - 110,607,900 (-)NCBI Archive
HuRef6107,987,658 - 108,067,845 (-)ENTREZGENE
CHM1_16110,684,246 - 110,764,410 (-)NCBI
T2T-CHM13v2.06111,278,252 - 111,358,111 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001020107   ⟸   NM_001024936
- UniProtKB: E1P5F2 (UniProtKB/Swiss-Prot),   Q5SZK7 (UniProtKB/Swiss-Prot),   Q92558 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001020106   ⟸   NM_001024935
- UniProtKB: E1P5F2 (UniProtKB/Swiss-Prot),   Q5SZK7 (UniProtKB/Swiss-Prot),   Q92558 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001020105   ⟸   NM_001024934
- UniProtKB: E1P5F2 (UniProtKB/Swiss-Prot),   Q5SZK7 (UniProtKB/Swiss-Prot),   Q92558 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_003922   ⟸   NM_003931
- UniProtKB: E1P5F2 (UniProtKB/Swiss-Prot),   Q5SZK7 (UniProtKB/Swiss-Prot),   Q92558 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000352425   ⟸   ENST00000359451
Ensembl Acc Id: ENSP00000404142   ⟸   ENST00000419252
Ensembl Acc Id: ENSP00000407041   ⟸   ENST00000444391
Ensembl Acc Id: ENSP00000376368   ⟸   ENST00000392589
Ensembl Acc Id: ENSP00000376365   ⟸   ENST00000392586
Ensembl Acc Id: ENSP00000376367   ⟸   ENST00000392588
Ensembl Acc Id: ENSP00000376366   ⟸   ENST00000392587
Ensembl Acc Id: ENSP00000357934   ⟸   ENST00000368938
Ensembl Acc Id: ENSP00000402663   ⟸   ENST00000447287
Ensembl Acc Id: ENSP00000265601   ⟸   ENST00000265601
Protein Domains
WH2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92558-F1-model_v2 AlphaFold Q92558 1-559 view protein structure

Promoters
RGD ID:7208877
Promoter ID:EPDNEW_H10183
Type:initiation region
Name:WASF1_1
Description:WAS protein family member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10184  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386110,179,670 - 110,179,730EPDNEW
RGD ID:7208875
Promoter ID:EPDNEW_H10184
Type:initiation region
Name:WASF1_2
Description:WAS protein family member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10183  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386110,180,016 - 110,180,076EPDNEW
RGD ID:6804026
Promoter ID:HG_KWN:54622
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000265601,   ENST00000368930,   ENST00000368932,   ENST00000368933,   ENST00000368938,   ENST00000392586,   NM_001024934,   NM_001024935,   NM_001024936,   NM_003931,   OTTHUMT00000041785,   OTTHUMT00000041787,   OTTHUMT00000041788,   UC003PTZ.1,   UC003PUA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366110,606,726 - 110,608,477 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12732 AgrOrtholog
COSMIC WASF1 COSMIC
Ensembl Genes ENSG00000112290 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000359451 ENTREZGENE
  ENST00000359451.6 UniProtKB/Swiss-Prot
  ENST00000392586.5 UniProtKB/Swiss-Prot
  ENST00000392587 ENTREZGENE
  ENST00000392587.6 UniProtKB/Swiss-Prot
  ENST00000392588 ENTREZGENE
  ENST00000392588.5 UniProtKB/Swiss-Prot
  ENST00000392589 ENTREZGENE
  ENST00000392589.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.340 UniProtKB/Swiss-Prot
  6.10.280.150 UniProtKB/Swiss-Prot
GTEx ENSG00000112290 GTEx
HGNC ID HGNC:12732 ENTREZGENE
Human Proteome Map WASF1 Human Proteome Map
InterPro SCAR/WAVE_fam UniProtKB/Swiss-Prot
  WH2_dom UniProtKB/Swiss-Prot
KEGG Report hsa:8936 UniProtKB/Swiss-Prot
NCBI Gene 8936 ENTREZGENE
OMIM 605035 OMIM
PANTHER PTHR12902 UniProtKB/Swiss-Prot
  WISKOTT-ALDRICH SYNDROME PROTEIN FAMILY MEMBER 1 UniProtKB/Swiss-Prot
Pfam WH2 UniProtKB/Swiss-Prot
PharmGKB PA37343 PharmGKB
PROSITE WH2 UniProtKB/Swiss-Prot
SMART WH2 UniProtKB/Swiss-Prot
UniProt E1P5F2 ENTREZGENE
  Q5SZK3_HUMAN UniProtKB/TrEMBL
  Q5SZK4_HUMAN UniProtKB/TrEMBL
  Q5SZK5_HUMAN UniProtKB/TrEMBL
  Q5SZK7 ENTREZGENE
  Q92558 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary E1P5F2 UniProtKB/Swiss-Prot
  Q5SZK7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-19 WASF1  WASP family member 1  WASF1  WAS protein family member 1  Symbol and/or name change 5135510 APPROVED
2015-11-24 WASF1  WAS protein family member 1  WASF1  WAS protein family, member 1  Symbol and/or name change 5135510 APPROVED